### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKD1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PKD1" "polycystic kidney disease 1 (autosomal dominant)" "16" "p13.3" "unknown" "NG_008617.1" "UD_132085396870" "" "https://www.LOVD.nl/PKD1" "" "1" "9008" "5310" "601313" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PKD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-02-02 00:00:00" "00006" "2019-10-08 13:06:04" "00000" "2025-08-27 15:38:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023950" "PKD1" "transcript variant 1" "002" "NM_001009944.2" "" "NP_001009944.2" "" "" "" "-209" "13929" "12912" "2185899" "2138711" "00006" "2014-06-17 20:31:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00189" "TSC2" "tuberous sclerosis, type 2" "AD" "613254" "" "" "" "00006" "2013-09-05 22:00:33" "00006" "2022-08-19 09:49:18" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00269" "PKD1" "kidney disease, polycystic, type 1" "AD" "173900" "" "" "" "00001" "2013-11-14 11:43:05" "00006" "2022-11-30 11:44:40" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PKD1" "00269" "PKD1" "04222" "PKD1" "05427" ## Individuals ## Do not remove or alter this header ## ## Count = 1038 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00017058" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017059" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "4-generation family" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017062" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "large family, 3-generation ADPKD, proband with 5 affected children" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017063" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "positive family history" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017932" "" "" "" "4" "" "00006" "{PMID:European PKD Consortium 1994:8004675}" "3-generation family, 34 affecteds" "-" "no" "" "" "0" "" "" "" "" "00017933" "" "" "" "1" "" "00006" "{PMID:European PKD Consortium 1994:8004675}" "3-generation family, 1 affected" "?" "no" "" "" "0" "" "" "" "" "00017934" "" "" "" "8" "" "00006" "{PMID:Turco 1995:7581371}" "3-generation family, 8 affecteds" "-" "no" "Italy" "" "0" "" "" "" "" "00017935" "" "" "" "5" "" "00006" "{PMID:Peral 1996:8554072}" "3 generations; 3 affected ind.; 4 unaffected ind. available for linkage analysis. Clin. info available 5 patients (2 now deceased);" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017936" "" "" "" "3" "" "00006" "{PMID:Peral 1996:8554072}" "4 generation family, 3 affected cousins" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00017937" "" "" "" "1" "" "00006" "{PMID:Peral 1996:8554072}" "2 generation family, 3 affected + 2 unaffected subjects." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017938" "" "" "" "17" "" "00006" "{PMID:Peral 1996:8554072}" "5 generations; 17 samples of at risk objects." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017939" "" "" "" "1" "" "00006" "{PMID:Peral 1996:8554072}" "4 generation family; 5 affected and 2 unaffected subjects available for study." "?" "?" "" "" "0" "" "" "" "" "00017941" "" "" "" "1" "" "00006" "{PMID:Peral 1996:8845849}" "3 generation family; dizygotic twin (M/F), unaffected (grand)parents" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00017944" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "positive family history but only living affected member" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017945" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "" "?" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017948" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "positive family history, MZ twin daughters (4y) few cysts in each kidney" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017949" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "negative family history" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017950" "" "" "" "1" "" "00006" "{PMID:Peral 1997:9199561}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00017954" "" "" "" "4" "" "00006" "{PMID:Watnick 1997:9285784}" "3-generation family, individual has affected carrier brother, daughter, niece" "?" "" "(United States)" "" "0" "" "" "" "" "00017955" "" "" "" "1" "" "00006" "{PMID:Watnick 1997:9285784}" "" "?" "" "United States" "" "0" "" "" "German" "FamJHU086" "00017956" "" "" "" "1" "" "00006" "{PMID:Watnick 1997:9285784}" "" "?" "" "(United States)" "" "0" "" "" "" "" "00017957" "" "" "" "1" "" "00006" "{PMID:Watnick 1997:9285784}" "" "?" "" "United States" "" "0" "" "" "" "" "00017960" "" "" "" "7" "" "00006" "{PMID:Watnick 1997:9285784}" "4-generation family, 7 affecteds" "?" "" "United States" "" "0" "" "" "" "FamJHU273" "00017961" "" "" "" "4" "" "00006" "{PMID:Roelfsema 1997:9345095}" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00017962" "" "" "" "1" "" "00006" "{PMID:Roelfsema 1997:9345095}" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00017963" "" "" "" "1" "" "00006" "{PMID:Roelfsema 1997:9345095}" "" "?" "" "Netherlands" "" "0" "" "" "" "" "00017964" "" "" "" "10" "" "00006" "{PMID:Roelfsema 1997:9345095}" "large multi-generation family (>75 individuals) probably linked to amily 133" "?" "" "Netherlands" "" "0" "" "" "" "" "00017965" "" "" "" "10" "" "00006" "{PMID:Roelfsema 1997:9345095}" "4-generation family, 10 affecteds" "-" "no" "Netherlands" "" "0" "" "" "" "" "00017966" "" "" "" "5" "" "00006" "{PMID:Roelfsema 1997:9345095}" "multi-generation family" "-" "no" "Netherlands" "" "0" "" "" "" "" "00017967" "" "" "" "4" "" "00006" "{PMID:Roelfsema 1997:9345095}" "multi-generation family" "-" "no" "Netherlands" "" "0" "" "" "" "" "00018043" "" "" "" "3" "" "00006" "{PMID:Rossetti 2001:11115377}" "" "?" "" "" "" "0" "" "" "" "" "00018062" "" "" "" "7" "" "00006" "{PMID:Rossetti 2001:11115377}" "" "?" "" "" "" "0" "" "" "" "" "00018063" "" "" "" "2" "" "00006" "{PMID:Rossetti 2001:11115377}" "" "?" "" "" "" "0" "" "" "" "" "00018064" "" "" "" "2" "" "00006" "{PMID:Rossetti 2001:11115377}" "family, 2 affecteds" "?" "" "" "" "0" "" "" "" "" "00018315" "" "" "" "1" "" "00006" "{PMID:Tsukamoto 2008:18175055}" "mother of NPHP patient" "F" "no" "Japan" "" "0" "" "" "" "" "00032340" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "patient, unaffected heterozygous carrier parents" "" "?" "United States" "00y07m" "0" "" "" "" "" "00050133" "" "" "" "3" "" "00753" "" "large 4-generation family, 3 affected" "M" "no" "Italy" "" "0" "" "" "white" "" "00058842" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family, 3 affecteds" "M" "no" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058843" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4-generation family, 5 affected" "M" "no" "Italy" "" "0" "contributing lab 1" "maintenance therapy" "white" "" "00058844" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "maintenance therapy" "white" "" "00058845" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "contributing lab 1" "renal transplantation" "white" "" "00058846" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 2" "" "white" "" "00058847" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058848" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058849" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058850" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058851" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058852" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058853" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058854" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058855" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058856" "" "" "" "1" "" "00753" "Carrera et al., submitted" "?" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058860" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058861" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058862" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058863" "" "" "" "1" "" "00753" "Carrera et al., submitted" "?" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058864" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058866" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058867" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058868" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058869" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058870" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058871" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "no" "Italy" "" "0" "contributing lab 10" "renal transplantation" "white" "" "00058872" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058873" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058874" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058875" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058876" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058877" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058878" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058879" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058880" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058881" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058882" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058883" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058884" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058885" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058886" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058887" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058888" "" "" "" "1" "" "00753" "Carrera et al., submitted" "?" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058889" "" "" "" "1" "" "00753" "Carrera et al., submitted" "2-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058890" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 2-generation family" "M" "" "Italy" "" "0" "contributing lab 1" "dyalisis" "white" "" "00058891" "" "" "" "1" "" "00753" "Carrera et al., submitted" "?" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058892" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large-3 generation family" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058893" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058894" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058895" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large-3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058896" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large-3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058897" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large-3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058898" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Philippines" "" "0" "contributing lab 3" "" "asian" "" "00058899" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Congo" "" "0" "contributing lab 3" "" "african" "" "00058900" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058901" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058902" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058903" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058904" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 4" "" "white" "" "00058905" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 4" "" "white" "" "00058906" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058907" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058908" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058909" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058910" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058911" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 5" "maintenance therapy" "white" "" "00058912" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "contributing lab 1" "" "white" "" "00058913" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058914" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058915" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058916" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab ?" "" "white" "" "00058917" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 3-generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058918" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "yes" "Italy" "" "0" "contributing lab 4" "" "white" "" "00058919" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 6" "" "white" "" "00058920" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 6" "" "white" "" "00058921" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab ?" "" "white" "" "00058922" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058923" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058924" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058925" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 15" "" "white" "" "00058926" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058927" "" "" "" "1" "" "00753" "Carrera et al., submitted" "2 generation family" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058928" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058930" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058932" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058933" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058934" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058935" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058936" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058937" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058938" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058939" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058940" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058943" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058944" "" "" "" "1" "" "00753" "Carrera et al., submitted" "5 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058945" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058946" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058947" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058948" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058951" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058952" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058953" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058954" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 16" "" "white" "" "00058955" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058956" "" "" "" "1" "" "00753" "Carrera et al., submitted" "2 generation family" "M" "" "Italy" "" "0" "contributing lab 10" "" "white" "" "00058957" "" "" "" "1" "" "00753" "Carrera et al., submitted" "5 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058958" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00058959" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058960" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058961" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058962" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 9" "" "white" "" "00058963" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058964" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058966" "" "" "" "1" "" "00753" "Carrera et al., submitted" "2 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058967" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00058968" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 12" "renal tlansplantation" "white" "" "00058969" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 12" "" "white" "" "00058970" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00058971" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 14" "" "white" "" "00058972" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058973" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 11" "" "white" "" "00058974" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00058975" "" "" "" "1" "" "00753" "Carrera et al., submitted" "large 4-generation family" "F" "" "Moldova" "" "0" "contributing lab 17" "" "white" "" "00058976" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058977" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00058978" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058979" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058980" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058983" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058984" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058985" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058986" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00058987" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "F" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058988" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 18" "" "white" "" "00058989" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058990" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058991" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00058994" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058995" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058996" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00058997" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058998" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00058999" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059000" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 9" "" "white" "" "00059001" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059002" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059003" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 11" "" "white" "" "00059004" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00059005" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059007" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059009" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00059011" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059012" "" "" "" "1" "" "00753" "Carrera et al., submitted" "2 generation family" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059013" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 8" "" "white" "" "00059014" "" "" "" "1" "" "00753" "Carrera et al., submitted" "3 generation family" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00059015" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059016" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "M" "" "Italy" "" "0" "contributing lab 5" "" "white" "" "00059017" "" "" "" "1" "" "00753" "Carrera et al., submitted" "4 generation family" "F" "" "Italy" "" "0" "contributing lab 3" "" "white" "" "00059018" "" "" "" "1" "" "00753" "Carrera et al., submitted" "" "F" "" "Italy" "" "0" "contributing lab 7" "" "white" "" "00081099" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00087128" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087129" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087130" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087131" "" "" "" "8" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087132" "" "" "" "3" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087133" "" "" "" "8" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087134" "" "" "" "10" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087135" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087136" "" "" "" "3" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087137" "" "" "" "4" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087138" "" "" "" "8" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087139" "" "" "" "10" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087140" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087141" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087142" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087143" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087144" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087145" "" "" "" "3" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087146" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087147" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087148" "" "" "" "6" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087149" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087150" "" "" "" "5" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087151" "" "" 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"" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087169" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087170" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087171" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087172" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087173" "" "" "" "7" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087174" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087175" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087176" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087177" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087178" "" "" "" "7" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087179" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087180" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087181" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087182" "" "" "" "5" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087183" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087184" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087185" "" "" "" "5" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087186" "" "" "" "5" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087187" "" "" "" "5" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087188" "" "" "" "3" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087189" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087190" "" "" "" "5" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087191" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087192" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087193" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087194" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087195" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087196" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087197" "" "" "" "7" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087198" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087199" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087200" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087201" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087202" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087203" "" "" "" "2" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00087204" "" "" "" "1" "" "01808" "submitted HuMu" "" "" "" "" "" "0" "EGA database Id: EGAS00001002106" "" "" "" "00089036" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00104028" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-729A" "00104038" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-762A" "00131900" "" "" "" "3" "" "02262" "" "" "F" "?" "(Italy)" ">55y" "0" "yes" "" "" "CRBA" "00131922" "" "" "" "2" "" "02262" "" "" "M" "no" "(Italy)" ">60y" "0" "" "" "" "CRBA" "00131923" "" "" "" "1" "" "02262" "" "" "F" "?" "(Italy)" ">44y" "0" "" "" "" "CRBA" "00131926" "" "" "" "1" "" "02262" "" "" "F" "?" "(Italy)" ">63y" "0" "" "" "" "CRBA" "00131933" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">67y" "0" "no" "unknown" "white" "CRBA" "00131934" "" "" "" "1" "" "02262" "" "3-generation family, 5 affecteds (5F)" "F" "no" "Italy" ">32y" "0" "yes" "unknown" "white" "CRBA" "00131939" "" "" "" "1" "" "02262" "" "" "M" "no" "Italy" ">43y" "0" "yes" "" "white" "CRBA" "00131940" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">47y" "0" "yes" "" "white" "CRBA" "00132037" "" "" "" "1" "" "02262" "" "" "F" "no" "Italy" ">32y" "0" "" "" "white" "CRBA" "00132038" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">31y" "0" "" "" "white" "CRBA" "00132080" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">48y" "0" "" "" "white" "CRBA" "00132081" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">58y" "0" "" "" "" "CRBA" "00132654" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" "" "0" "" "" "white" "CRBA" "00132655" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">38y" "" "" "" "white" "CRBA" "00132659" "" "" "" "2" "" "02262" "" "" "F" "no" "Italy" ">28y" "0" "" "" "white" "CRBA" "00132660" "" "" "" "2" "" "02262" "" "" "F" "?" "Italy" ">35y" "0" "" "" "white" "CRBA" "00132661" "" "" "" "2" "" "02262" "" "" "F" "?" "Italy" ">50y" "0" "" "" "white" "CRBA" "00132736" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" "" "0" "" "" "white" "CRBA" "00132737" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" "" "0" "" "" "white" "CRBA" "00132738" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" "" "0" "" "" "white" "CRBA" "00132739" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" "" "0" "" "" "white" "CRBA" "00144445" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">55y" "0" "" "" "white" "CRBA" "00144447" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">60y" "0" "" "" "white" "CRBA" "00144451" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">72y" "0" "" "" "white" "CRBA" "00144503" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">52y" "0" "" "" "white" "CRBA" "00144504" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">55y" "0" "" "" "white" "CRBA" "00144505" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">47y" "0" "" "" "white" "CRBA" "00151423" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">48y" "" "" "" "white" "CRBA" "00151795" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">45y" "" "" "" "white" "CRBA" "00151796" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">60y" "" "" "" "white" "CRBA" "00151797" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">17y" "" "" "" "white" "CRBA" "00151798" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">55y" "" "" "" "white" "CRBA" "00151799" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">10y" "" "" "" "white" "CRBA" "00151800" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">47y" "" "" "" "white" "CRBA" "00151801" "" "" "" "1" "" "02262" "" "" "M" "" "Italy" ">20y" "" "" "" "white" "CRBA" "00151802" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">44y" "" "" "" "white" "CRBA" "00151803" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">62y" "" "" "" "white" "CRBA" "00151804" "" "" "" "1" "" "02262" "" "" "F" "?" "" "" "" "" "" "" "CRBA" "00151805" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" "" "" "" "" "white" "CRBA" "00151806" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">60y" "" "" "" "white" "CRBA" "00151807" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" "" "" "" "" "white" "CRBA" "00151808" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">60y" "" "" "" "white" "CRBA" "00151809" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">45y" "" "" "" "white" "CRBA" "00151966" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" "" "0" "" "" "white" "CRBA" "00151967" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">43y" "0" "" "" "white" "CRBA" "00151968" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" "" "0" "" "" "white" "CRBA" "00151989" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">47y" "0" "" "" "white" "CRBA" "00152029" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00163849" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">47y" "0" "" "" "white" "CRBA" "00163850" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">41y" "0" "" "" "white" "CRBA" "00163852" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">40y" "0" "" "" "white" "CRBA" "00163917" "" "" "" "1" "" "02262" "" "" "M" "?" "Spain" ">03y" "0" "" "" "" "CRBA" "00163918" "" "" "" "1" "" "02262" "" "" "M" "?" "Morocco" ">57y" "0" "" "" "African" "CRBA" "00163923" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">64y" "0" "" "" "white" "CRBA" "00164029" "" "" "" "1" "" "02262" "" "" "M" "?" "Italy" ">40y" "0" "" "" "white" "CRBA" "00164035" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">47y" "0" "" "" "white" "CRBA" "00164036" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">30y" "0" "" "" "white" "CRBA" "00164462" "" "" "" "2" "" "02262" "" "3 brothers:F, M affecteds, M unaffected" "F" "no" "Italy" "57y" "0" "" "" "white" "" "00164463" "" "" "" "1" "" "02262" "" "" "F" "no" "Italy" ">36y" "0" "" "" "white" "" "00164472" "" "" "" "3" "" "02262" "" "two generation family, 1 father and two sons affected" "M" "?" "Italy" ">46y" "0" "" "" "white" "CRBA" "00164473" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" "" "0" "" "" "white" "CRBA" "00164474" "" "" "" "2" "" "02262" "" "two generations, mother and son affected" "M" "?" "Italy" ">49y" "0" "" "" "white" "CRBA" "00164475" "" "" "" "7" "" "02262" "" "4 generations: 3 male, 2 female and 2 foetuses affected" "M" "?" "Albania" ">28y" "0" "" "" "white" "CRBA" "00164480" "" "" "" "2" "" "02262" "" "2 generations family, 2 affecteds (1male, 1 female)" "F" "?" "Italy" ">32y" "0" "" "" "white" "CRBA" "00164516" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" "" "0" "" "" "white" "CRBA" "00164517" "" "" "" "4" "" "02262" "" "3-generation family: 4 affecteds (4 females)" "F" "no" "Italy" ">48y" "0" "" "" "white" "CRBA" "00164520" "" "" "" "2" "" "02262" "" "2-generation family: 2 affecteds (2 males)" "M" "no" "Italy" ">35y" "0" "" "" "white" "CRBA" "00164521" "" "" "" "4" "" "02262" "" "3-generation family: 4 affecteds (3 females, 1 males)" "F" "no" "" ">62y" "0" "" "" "white" "CRBA" "00164522" "" "" "" "4" "" "02262" "" "3-generation family: 4 affecteds (3 females, 1male)" "F" "no" "Italy" ">60y" "0" "" "" "white" "CRBA" "00181183" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "" "48264" "00218093" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">64y" "0" "" "" "white" "CRBA" "00218390" "" "" "" "1" "" "02262" "" "" "F" "no" "Italy" ">54y" "0" "" "" "white" "CRBA" "00218392" "" "" "" "1" "" "02262" "" "" "F" "?" "Italy" ">47y" "0" "" "" "white" "CRBA" "00218397" "" "" "" "1" "" "02262" "" "" "M" "no" "Italy" ">61y" "0" "" "" "white" "CRBA" "00218398" "" "" "" "1" "" "02262" "" "" "F" "no" "Italy" ">43y" "0" "" "" "white" "CRBA" "00218400" "" "" "" "1" "" "02262" "" "" "M" "no" "Italy" ">32y" "0" "" "" "white" "CRBA" "00218402" "" "" "" "1" "" "02262" "" "" "M" "no" "Albania" ">42y" "0" "" "" "white" "CRBA" "00218403" "" "" "" "1" "" "02262" "" "" "F" "no" "Albania" ">35y" "0" "" "" "white" "CRBA" "00218404" "" "" "" "1" "" "02262" "" "" "F" "no" "Italy" ">25y" "0" "" "" "white" "CRBA" "00218405" "" "" "" "1" "" "02262" "" "" "F" "no" "Italy" ">47y" "0" "" "" "white" "CRBA" "00265200" "" "" "" "1" "" "03416" "" "" "F" "no" "Greece" "29y" "0" "yes" "" "" "" "00281802" "" "" "" "1" "" "00006" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Germany" "" "0" "" "" "" "FamA" "00291417" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291418" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291419" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296492" "" "" "" "1" "" "00006" "{PMID:Waldrop 2019:30792735}" "3-generation family, 3 affected (father and paternal grandmother ADPKD history untested)" "F" "" "United States" "" "0" "" "" "" "Pat1" "00302686" "" "" "" "9" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 9 affected (6F, 3M)" "F" "" "Oman" "" "0" "" "" "" "P1" "00302696" "" "" "" "7" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 7 affected (3F, 4M)" "M" "" "Oman" "" "0" "" "" "" "P18" "00302697" "" "" "" "9" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 9 affected (6F, 3M)" "F" "" "Oman" "" "0" "" "" "" "P20" "00302706" "" "" "" "11" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 11 affected (4F, 7M)" "M" "" "Oman" "" "0" "" "" "" "P32" "00302707" "" "" "" "7" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 7 affected (2F, 5M)" "M" "" "Oman" "" "0" "" "" "" "P33" "00302708" "" "" "00302696" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P34" "00302709" "" "" "" "4" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 4 affected (2F, 2M)" "M" "" "Oman" "" "0" "" "" "" "P37" "00302713" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Oman" "" "0" "" "" "" "P42" "00302714" "" "" "" "5" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 5 affected (F, 4M)" "M" "" "Oman" "" "0" "" "" "" "P43" "00302716" "" "" "00302706" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "" "Oman" "" "0" "" "" "" "P45" "00303033" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat78" "00305881" "" "" "" "2" "" "00006" "{PMID:Bergmann 2011:22034641}" "2-generation family, affected father/son" "M" "" "Germany" "" "0" "" "" "" "FamEPatII1" "00305882" "" "" "" "2" "" "00006" "{PMID:Bergmann 2011:22034641}" "2-generation family, affected mother/son" "M" "" "Germany" "" "0" "" "" "" "FamFPatII1" "00305883" "" "" "" "4" "" "00006" "{PMID:Bergmann 2011:22034641}" "3-generation family, 2 affected sisters, mother and maternal grandmother" "F" "" "Germany" "" "0" "" "" "" "FamG" "00305884" "" "" "" "3" "" "00006" "{PMID:Bergmann 2011:22034641}" "3-generation family, 3 affected children" "" "yes" "Germany" "" "0" "" "" "" "FamH" "00305885" "" "" "" "3" "" "00006" "{PMID:Bergmann 2011:22034641}" "3-generation family, 3 affected, affected fetus" "" "" "Germany" "" "0" "" "" "" "FamBPatIII1" "00306816" "" "" "" "1" "" "00596" "Unpublished" "patient with TSC and ADPKD; no family history of TSC" "F" "?" "" "" "0" "" "" "" "" "00320139" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00377588" "" "" "" "1" "" "01741" "" "" "M" "" "Germany" "" "" "" "" "" "" "00383175" "" "" "" "1" "" "04173" "" "" "" "" "" "" "" "" "" "" "" "00394996" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K4" "00394997" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K5" "00394998" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K6" "00395001" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K25" "00395002" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K28" "00395003" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K31" "00395004" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K33" "00395005" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K34" "00395006" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K44" "00395007" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K56" "00395008" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K57" "00395009" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K62" "00395010" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K67" "00395011" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K70" "00395012" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K71" "00395013" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K72" "00395014" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K76" "00395015" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K81" "00395016" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K82" "00395018" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K94" "00395019" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K104" "00395020" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K134" "00410552" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat14" "00410564" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat26" "00414445" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP112" "00419549" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20131" "00419666" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20094" "00426424" "" "" "" "1" "" "00006" "{PMID:Koay 2022:36281931}" "" "F" "" "Malaysia" "" "0" "" "" "" "patient" "00428006" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A118" "00434373" "" "" "" "1" "" "01741" "affectd mother/child" "" "" "" "" "" "0" "" "" "" "" "00435459" "" "" "" "1" "" "03282" "" "" "M" "" "" "" "" "" "" "" "" "00443815" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat619" "00448186" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat64" "00448828" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat37" "00448829" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat38" "00448833" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat515" "00448834" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat517" "00448835" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat521" "00448836" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat526" "00448837" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat548" "00448838" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat549" "00448839" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat585" "00448840" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat600" "00448841" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat601" "00448843" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat621" "00448844" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat625" "00448845" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat631" "00448847" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat634" "00448848" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat648" "00448849" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat653" "00448850" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat654" "00448851" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat655" "00448852" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat723" "00448853" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat758" "00448854" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat763" "00448855" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat764" "00448856" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat765" "00448857" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat767" "00448858" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat773" "00448859" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat774" "00448860" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat833" "00448861" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat834" "00448862" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat838" "00448863" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "M" "" "Japan" "" "0" "" "" "" "Pat841" "00448864" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "F" "" "Japan" "" "0" "" "" "" "Pat842" "00448878" "" "" "" "10" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 10 affected" "" "" "France" "" "0" "" "" "" "10132" "00448879" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10489" "00448880" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10412" "00448881" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10164" "00448882" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10384" "00448883" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10266" "00448884" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10350" "00448885" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10592" "00448886" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10219" "00448887" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10322" "00448888" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10291" "00448889" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10622" "00448890" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10082" "00448891" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10590" "00448892" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10463" "00448893" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10588" "00448894" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10643" "00448895" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10591" "00448896" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10052" "00448897" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10386" "00448898" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10472" "00448899" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10048" "00448900" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10287" "00448901" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10290" "00448902" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10361" "00448903" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10482" "00448904" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10615" "00448905" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10229" "00448906" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10360" "00448907" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10321" "00448908" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10391" "00448909" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10372" "00448910" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10226" "00448911" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10522" "00448912" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10405" "00448913" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10559" "00448914" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10402" "00448915" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10564" "00448916" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10602" "00448917" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10220" "00448918" "" "" "" "11" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 11 affected" "" "" "France" "" "0" "" "" "" "10230" "00448919" "" "" "" "4" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 4 affected" "" "" "France" "" "0" "" "" "" "10187" "00448920" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10507" "00448921" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10008" "00448922" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10492" "00448923" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10406" "00448924" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10403" "00448925" "" "" "" "5" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 5 affected" "" "" "France" "" "0" "" "" "" "10375" "00448926" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10563" "00448927" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10603" "00448928" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10072" "00448929" "" "" "" "5" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 5 affected" "" "" "France" "" "0" "" "" "" "10171" "00448930" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10268" "00448931" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10491" "00448932" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10028" "00448933" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10001" "00448934" "" "" "" "8" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 8 affected" "" "" "France" "" "0" "" "" "" "10035" "00448935" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10572" "00448936" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10158" "00448937" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10309" "00448938" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10446" "00448939" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10445" "00448940" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10061" "00448941" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10305" "00448942" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10085" "00448943" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10049" "00448944" "" "" "" "4" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 4 affected" "" "" "France" "" "0" "" "" "" "10006" "00448945" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10560" "00448946" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10063" "00448947" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10481" "00448948" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10007" "00448949" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10115" "00448950" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10231" "00448951" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10058" "00448952" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10429" "00448953" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10479" "00448954" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10454" "00448955" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10129" "00448956" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10518" "00448957" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10029" "00448958" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10547" "00448959" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10428" "00448960" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10483" "00448961" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10452" "00448962" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10582" "00448963" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10545" "00448964" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10142" "00448965" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10055" "00448966" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10310" "00448967" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10033" "00448968" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10208" "00448969" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10438" "00448970" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10299" "00448971" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10456" "00448972" "" "" "" "3" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "10109" "00448973" "" "" "" "5" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 5 affected" "" "" "France" "" "0" "" "" "" "10121" "00448974" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10197" "00448975" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10295" "00448976" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient" "" "" "France" "" "0" "" "" "" "10561" "00448977" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "patient, family history" "" "" "France" "" "0" "" "" "" "10573" "00448978" "" "" "" "1" "" "00006" "{PMID:Audrezet 2012:22508176}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "10212" "00448979" "" "" "" "2" "" "00006" "{PMID:Audrezet 2012:22508176}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10113" "00448980" "" "" "" "3" "" "00006" "{PMID:Audrezet 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"{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10584" "00449508" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10635" "00449509" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10655" "00449510" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10661" "00449511" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10673" "00449512" "" "" "" "2" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10675" "00449513" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10692" "00449514" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10703" "00449515" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10705" "00449516" "" "" "" "2" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10706" "00449517" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10707" "00449518" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10708" "00449519" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10719" "00449520" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10720" "00449521" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10742" "00449522" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10746" "00449523" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10747" "00449524" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10748" "00449525" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10785" "00449526" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10812" "00449527" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10818" "00449528" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10828" "00449529" "" "" "" "2" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "10830" "00449530" "" "" "" "1" "" "00006" "{PMID:Cornec-Le Gall 2013:23431072}" "patient" "" "" "France" "" "0" "" "" "" "10831" "00453360" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "F" "" "Turkey" "" "0" "" "" "" "Fam2Pat6" "00453361" "" "" "00453360" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "relative" "M" "" "Turkey" "" "0" "" "" "" "Fam2Pat7" "00453362" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam4Pat29" "00453363" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam5Pat14" "00453364" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "M" "" "Turkey" "" "0" "" "" "" "Fam6Pat11" "00453365" "" "" "00453364" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "relative" "M" "" "Turkey" "" "0" "" "" "" "Fam6Pat12" "00453366" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "M" "" "Turkey" "" "0" "" "" "" "Fam7Pat72" "00453367" "" "" "00453366" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "relative" "M" "" "Turkey" "" "0" "" "" "" "Fam7Pat74" "00453368" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 3 affected" "F" "" "Turkey" "" "0" "" "" "" "Fam8Pat8" "00453369" "" "" "00453368" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "father" "M" "" "Turkey" "" "0" "" "" "" "Fam8Pat32" "00453370" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam9Pat10" "00453371" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam10Pat75" "00453372" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "M" "" "Turkey" "" "0" "" "" "" "Fam11Pat18" "00453373" "" "" "00453372" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "relative" "M" "" "Turkey" "" "0" "" "" "" "Fam11Pat19" "00453374" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "F" "" "Turkey" "" "0" "" "" "" "Fam12Pat23" "00453375" "" "" "00453374" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "relative" "M" "" "Turkey" "" "0" "" "" "" "Fam12Pat24" "00453376" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam17Pat56" "00453377" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam18Pat58" "00453378" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam20Pat62" "00453379" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "M" "" "Turkey" "" "0" "" "" "" "Fam21Pat63" "00453380" "" "" "00453379" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "father" "M" "" "Turkey" "" "0" "" "" "" "Fam21Pat86" "00453381" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam22Pat71" "00453382" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam23Pat85" "00453383" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 3 affected" "F" "" "Turkey" "" "0" "" "" "" "Fam24Pat87" "00453384" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam25Pat49" "00453385" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam26Pat50" "00453386" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam27Pat51" "00453387" "" "" "" "2" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "2-generation family, 2 affected" "" "" "Turkey" "" "0" "" "" "" "Fam29Pat64" "00453388" "" "" "00453387" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "relative" "F" "" "Turkey" "" "0" "" "" "" "Fam29Pat65" "00453389" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam30Pat66" "00453390" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Fam31Pat67" "00453391" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam32Pat13" "00453392" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam33Pat68" "00453445" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453461" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453752" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV855" "00458176" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "312582" "00460937" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00465589" "" "" "" "1" "" "04614" "" "" "F" "no" "Spain" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1038 "{{individualid}}" "{{diseaseid}}" "00017058" "00269" "00017059" "00269" "00017062" "00269" "00017063" "00269" "00017932" "00269" "00017933" "00269" "00017934" "00269" "00017935" "00269" "00017936" "00269" "00017937" "00269" "00017938" "00269" "00017939" "00269" "00017941" "00269" "00017944" "00269" "00017945" "00269" "00017948" "00269" "00017949" "00269" "00017950" "00269" "00017954" "00269" "00017955" "00269" "00017956" "00269" "00017957" "00269" "00017960" "00269" "00017961" "00269" "00017962" "00269" "00017963" "00269" "00017964" "00269" "00017965" "00269" "00017966" "00269" "00017967" "00269" "00018043" "00269" 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"00449509" "04222" "00449510" "04222" "00449511" "04222" "00449512" "04222" "00449513" "04222" "00449514" "04222" "00449515" "04222" "00449516" "04222" "00449517" "04222" "00449518" "04222" "00449519" "04222" "00449520" "04222" "00449521" "04222" "00449522" "04222" "00449523" "04222" "00449524" "04222" "00449525" "04222" "00449526" "04222" "00449527" "04222" "00449528" "04222" "00449529" "04222" "00449530" "04222" "00453360" "04222" "00453361" "04222" "00453362" "04222" "00453363" "04222" "00453364" "04222" "00453365" "04222" "00453366" "04222" "00453367" "04222" "00453368" "04222" "00453369" "04222" "00453370" "04222" "00453371" "04222" "00453372" "04222" "00453373" "04222" "00453374" "04222" "00453375" "04222" "00453376" "04222" "00453377" "04222" "00453378" "04222" "00453379" "04222" "00453380" "04222" "00453381" "04222" "00453382" "04222" "00453383" "04222" "00453384" "04222" "00453385" "04222" "00453386" "04222" "00453387" "04222" "00453388" "04222" "00453389" "04222" "00453390" "04222" "00453391" "04222" "00453392" "04222" "00453445" "04222" "00453461" "04222" "00453752" "00152" "00458176" "00189" "00458176" "00269" "00460937" "00198" "00465589" "05427" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00189, 00198, 00269, 00344, 03381, 04214, 04222, 05330, 05427, 05521, 05611 ## Count = 952 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Cysts}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015432" "00269" "00017058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015433" "00269" "00017059" "00006" "Familial, autosomal dominant" "" "ESRD onset 53y, affected brother/father died at 46y/42y, niece with renal cysts available for study" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015437" "00269" "00017063" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016275" "00269" "00017932" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016276" "00269" "00017933" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016277" "00269" "00017934" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016287" "00269" "00017944" "00006" "Familial, autosomal dominant" "" "ESRD onset 53y; affected father, grandfather, cousin, great uncle had died at 48y, 63y, 43y, 60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016288" "00269" "00017945" "00006" "Familial, autosomal dominant" "" "ESRD onset 47y, affected sister and three children, ages 28y, 23y and 22y with renal cysts but normal renal function" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016291" "00269" "00017948" "00006" "Unknown" "" "33y elevated blood pressure, chronic renal disease; MZ twin daughters (4y) few cysts in each kidney, organs not enlarged, twins remained normotensive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016292" "00269" "00017949" "00006" "Isolated (sporadic)" "" "ESRD onset 57y, two daughters negative renal ultrasounds (37y and 34y)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016293" "00269" "00017950" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016297" "00269" "00017954" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016298" "00269" "00017955" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016299" "00269" "00017956" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016300" "00269" "00017957" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016303" "00269" "00017960" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016304" "00269" "00017961" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016305" "00269" "00017962" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016306" "00269" "00017963" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016307" "00269" "00017964" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016308" "00269" "00017965" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016309" "00269" "00017966" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016310" "00269" "00017967" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016407" "00269" "00018064" "00006" "Familial" "" "family history of PKD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016658" "00269" "00018315" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016755" "00269" "00017941" "00705" "Isolated (sporadic)" "" "28y:bilateral, multiple renal cysts were detected in the father, asymptomatic and normal renal size +\r\nfunction; III2 is now 6y: kidneys continue to be enlarged (>95th centile), multiple cysts, since 2y: hypertensive \r\nrenal function remains normal." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016757" "00269" "00017935" "00705" "Familial, autosomal dominant" "" "3 in generation I age onset ESDR 57y, 54y, and 53y; generation II raised SC levels: 103 51y, 253 46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016758" "00269" "00017936" "00705" "Familial, autosomal dominant" "" "1 ESRD at 61y, 1 raised SC of 153 at 58y, 1 has a normal SC level of 66 at 43y." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016759" "00269" "00017937" "00705" "Familial, autosomal dominant" "" "Age ESRD 49y in affected mother (now deceased) and 42y in son. 2nd affected son has polycystic kidneys diagnosed on ultrasound." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016760" "00269" "00017938" "00705" "Familial, autosomal dominant" "" "Age at death: generation II: 42y + 58y, Generation\r\nIII: 44y, 55y, 56y, 61y, no ESRD. Age at ESRD: Generation II: 55y, Generation III: 65y, Generation IV: 51y, 48y. Generation II: 1 subject is approaching renal failure at 63y, SC level of 529. Generation IV: 2 ind. have elevated SC levels\r\nof 309 (53 y) and 326 (49y), 3 ind. in generation V have normal SC levels; 78 at 26y, 87 at 28y, 91 at 33y." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016761" "00269" "00017939" "00705" "Familial, autosomal dominant" "" "2 sub. reached renal failure at 61y (gen II) and 45y (gen III). 2 sub from gen III have near normal (90 at 47y) or significantly elevated SC levels (177 at 49y). 2 sub from gen IV have SC levels of 89 and 82 at 28y and 21y." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025806" "00198" "00032340" "00006" "Isolated (sporadic)" "" "see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036736" "00269" "00050133" "00753" "Familial, autosomal dominant" "" "prevalence of cerebrovascular disease; kidney disease, chronic, type 1 (HP:0012623); renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "23y" "" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045430" "00269" "00058842" "00753" "Familial, autosomal dominant" "" "prevalence of cerebrovascular disease; kidney disease, chronic, type 1 (HP:0012623); renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "23y" "affected" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045431" "00269" "00058843" "00753" "Familial, autosomal dominant" "" "kidney disease, chronic, type 4 (HP:0012626); ellipsoid US volume (884); renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045432" "04222" "00058844" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); ellipsoid US volume (4605); hypertension (HP:0000822); kidney disease, chronic, type 3 (HP:0012625)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045433" "00269" "00058845" "00753" "Familial, autosomal dominant" "" "kidney disease, chronic, type 5 (HP:0003774); renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000045434" "00269" "00058846" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000045435" "00269" "00058847" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045436" "00269" "00058848" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045437" "00269" "00058849" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045438" "00269" "00058850" "00753" "Familial, autosomal dominant" "" "cerebral aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045439" "04222" "00058851" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045440" "00269" "00058852" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045441" "04222" "00058853" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045442" "00269" "00058854" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045443" "04222" "00058855" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045444" "00269" "00058856" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045448" "00269" "00058860" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045449" "00269" "00058861" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045450" "00269" "00058862" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045451" "00269" "00058863" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045452" "00269" "00058864" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045454" "00269" "00058866" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045455" "00269" "00058867" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045456" "00269" "00058868" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045457" "00269" "00058869" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045458" "00269" "00058870" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045459" "04222" "00058871" "00753" "Familial, autosomal dominant" "" "age at ESRD 24y; cerebral aneurysm; renal cysts (HP:0000107); kidney disease, chronic, type 5 (HP:0003774)" "" "" "" "11y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045460" "00269" "00058872" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000045461" "00269" "00058873" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000045462" "04222" "00058874" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045463" "00269" "00058875" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045464" "00269" "00058876" "00753" "Familial, autosomal dominant" "" "hypertension 120/85; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045465" "00269" "00058877" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045466" "00269" "00058878" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); no hypertension (-HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "no" "" "" "" "" "" "" "0000045467" "00269" "00058879" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045468" "00269" "00058880" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045469" "00269" "00058881" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045470" "00269" "00058882" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045471" "00269" "00058883" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045472" "04222" "00058884" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045473" "00269" "00058885" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045474" "00269" "00058886" "00753" "Familial, autosomal dominant" "" "no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045475" "00269" "00058887" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045476" "00269" "00058888" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045477" "00269" "00058889" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045478" "00269" "00058890" "00753" "Familial, autosomal dominant" "" "kidney disease, chronic, type 5 (HP:0003774); renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "hypertension" "" "" "" "" "" "" "0000045479" "00269" "00058891" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045480" "00269" "00058892" "00753" "Familial, autosomal dominant" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "hypertension" "" "" "" "" "" "" "0000045481" "00269" "00058893" "00753" "Familial, autosomal dominant" "" "kidney disease, chronic, type 4 (HP:0012626); renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "hypertension" "" "" "" "" "" "" "0000045482" "00269" "00058894" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045483" "00269" "00058895" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "27y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045484" "00269" "00058896" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045485" "00269" "00058897" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045486" "00269" "00058898" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045487" "04222" "00058899" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045488" "00269" "00058900" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045489" "00269" "00058901" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "16y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045490" "00269" "00058902" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045491" "00269" "00058903" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045492" "00269" "00058904" "00753" "Familial, autosomal dominant" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "72y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045493" "00269" "00058905" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045494" "00269" "00058906" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "20y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045495" "00269" "00058907" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "40y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045496" "00269" "00058908" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045497" "04222" "00058909" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045498" "00269" "00058910" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045499" "00269" "00058911" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "hypertension" "" "" "" "" "" "" "0000045500" "00269" "00058912" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045501" "04222" "00058913" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045502" "00269" "00058914" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045503" "00269" "00058915" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045504" "00269" "00058916" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "" "" "" "" "" "" "" "0000045505" "00269" "00058917" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045506" "04222" "00058918" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "" "" "" "" "" "" "" "0000045507" "00269" "00058919" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045508" "00269" "00058920" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045509" "00269" "00058921" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045510" "00269" "00058922" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045511" "00269" "00058923" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045512" "00269" "00058924" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045513" "00269" "00058925" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045514" "00269" "00058926" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045515" "00269" "00058927" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045516" "00269" "00058928" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045518" "00269" "00058930" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045520" "00269" "00058932" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045521" "00269" "00058933" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045522" "00269" "00058934" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045523" "04222" "00058935" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045524" "04222" "00058936" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); nephrolithiasis" "" "" "" "15y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045525" "04222" "00058937" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045526" "04222" "00058938" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045527" "04222" "00058939" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045528" "00269" "00058940" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045531" "00269" "00058943" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "1y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045532" "00269" "00058944" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045533" "00269" "00058945" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045534" "00269" "00058946" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045535" "00269" "00058947" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "50y" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045536" "00269" "00058948" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "50y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045539" "00269" "00058951" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "35y" "affected" "" "" "" "" "" "renal;hepatic" "" "" "" "" "" "" "" "0000045540" "00269" "00058952" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045541" "00269" "00058953" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "42y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045542" "00269" "00058954" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045543" "00269" "00058955" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "26y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045544" "00269" "00058956" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045545" "00269" "00058957" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "20y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045546" "00269" "00058958" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045547" "00269" "00058959" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "14Y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045548" "00269" "00058960" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045549" "00269" "00058961" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "42y" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045550" "00269" "00058962" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045551" "00269" "00058963" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "22y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045552" "00269" "00058964" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045554" "04222" "00058966" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "10y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045555" "00269" "00058967" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045556" "00269" "00058968" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "20y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045557" "00269" "00058969" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "23y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045558" "00269" "00058970" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045559" "00269" "00058971" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045560" "00269" "00058972" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045561" "00269" "00058973" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045562" "00269" "00058974" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045563" "00269" "00058975" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "" "" "" "" "" "" "" "0000045564" "00269" "00058976" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "38y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045565" "00269" "00058977" "00753" "Familial, autosomal dominant" "" "clinic: lieve ipertrofia ventricolare; renal cysts (HP:0000107)" "" "" "" "28y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045566" "00269" "00058978" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "40y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045567" "00269" "00058979" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "3y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045568" "00269" "00058980" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045571" "00269" "00058983" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045572" "00269" "00058984" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045573" "00269" "00058985" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045574" "00269" "00058986" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "26y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045575" "00269" "00058987" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045576" "04222" "00058988" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "5y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045577" "00269" "00058989" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "27y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045578" "00269" "00058990" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "30y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045579" "00269" "00058991" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "27y" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045582" "00269" "00058994" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "18y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045583" "00269" "00058995" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045584" "00269" "00058996" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "15y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045585" "00269" "00058997" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045586" "00269" "00058998" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045587" "00269" "00058999" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045588" "00269" "00059000" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045589" "00269" "00059001" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "4y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045590" "00269" "00059002" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045591" "00269" "00059003" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); macroscopic hematuria (HP:0012857)" "" "" "" "32y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045592" "00269" "00059004" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045593" "00269" "00059005" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "28y" "affected" "" "" "" "" "" "renal;hepatic" "" "" "" "" "" "" "" "0000045595" "00269" "00059007" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045597" "00269" "00059009" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "" "" "" "" "" "" "" "0000045599" "00269" "00059011" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045600" "00269" "00059012" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "20y" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045601" "00269" "00059013" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045602" "00269" "00059014" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal;hepatic" "hypertension" "" "" "" "" "" "" "0000045603" "00269" "00059015" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045604" "00269" "00059016" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107); hypertension (HP:0000822)" "" "" "" "" "affected" "" "" "" "" "" "renal" "hypertension" "" "" "" "" "" "" "0000045605" "00269" "00059017" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000045606" "00269" "00059018" "00753" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "affected" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000060668" "00269" "00081099" "01758" "Isolated (sporadic)" "" "Polycystic kidney disease, adult type I (OMIM:173900)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068451" "00269" "00089036" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081962" "03381" "00104028" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081972" "03381" "00104038" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104114" "00269" "00131900" "02262" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "38y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104141" "00269" "00131922" "02262" "Familial, autosomal dominant" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104142" "00269" "00131923" "02262" "Unknown" "44y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104146" "00269" "00131926" "02262" "Familial, autosomal dominant" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104152" "00269" "00131933" "02262" "Familial, autosomal dominant" "67y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104153" "00269" "00131934" "02262" "Familial, autosomal dominant" "32y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104157" "00269" "00131939" "02262" "Familial, autosomal dominant" "43y" "kidney disease, chronic, type 1 (HP:0012623); nephrolithiasis (HP:0000787); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104158" "00269" "00131940" "02262" "Familial, autosomal dominant" "47y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "25y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104248" "00269" "00132037" "02262" "Familial, autosomal dominant" "32y" "renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000104249" "00269" "00132038" "02262" "Familial, autosomal dominant" "31y" "renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000104256" "04222" "00132080" "02262" "Familial, autosomal dominant" "48y" "renal cysts (HP:0000107)" "15y" "" "" "48y" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000104257" "00269" "00132081" "02262" "Familial, autosomal dominant" "58y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "?" "" "" "58y" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000105420" "00269" "00132654" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "" "0000105421" "00269" "00132655" "02262" "Familial, autosomal dominant" "38y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000105427" "00269" "00132659" "02262" "Familial, autosomal dominant" "28y" "no chronic kidney disease (-HP:0012622); enlarged kidney; renal cysts (HP:0000107); hepatic cysts (HP:0001407)" "" "" "" "" "" "" "" "" "" "" "hepatic;renal" "?" "" "" "" "" "" "" "0000105428" "00269" "00132660" "02262" "Familial, autosomal dominant" "35y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "24y" "" "" "35y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000105503" "00269" "00132736" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622)" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "" "0000105506" "00269" "00132737" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622)" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "" "0000105507" "00269" "00132738" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622)" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "" "0000105509" "00269" "00132739" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622)" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "" "0000105522" "00269" "00132661" "02262" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117212" "00269" "00144445" "02262" "Unknown" "55y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "55y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000117214" "00269" "00144447" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "60y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000117218" "00269" "00144451" "02262" "Unknown" "72y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000117240" "00269" "00144503" "02262" "Unknown" "52y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000117241" "00269" "00144504" "02262" "Unknown" "55y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000117243" "00269" "00144505" "02262" "Familial, autosomal dominant" "47y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000123814" "00269" "00151423" "02262" "Familial" "48y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000124163" "04222" "00151795" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124164" "04222" "00151796" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124165" "04222" "00151797" "02262" "Unknown" "" "" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124166" "04222" "00151798" "02262" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124167" "04222" "00151799" "02262" "Familial, autosomal dominant" "" "" "03y01m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124168" "04222" "00151800" "02262" "Unknown" "" "renal cysts (HP:0000107)" "32y" "" "" "" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000124169" "04222" "00151801" "02262" "Unknown" "" "renal cysts (HP:0000107)" "10y" "" "" "" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000124170" "04222" "00151802" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124171" "00269" "00151423" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124172" "04222" "00151803" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124173" "04222" "00151804" "02262" "Unknown" "" "renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000124174" "04222" "00151805" "02262" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "08y" "" "" "" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000124175" "04222" "00151806" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124176" "04222" "00151807" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124177" "04222" "00151808" "02262" "Unknown" "" "renal cysts (HP:0000107); hepatic cysts (HP:0001407); hematuria; kidney disease, chronic (HP:0012622)" "58y" "" "" "" "" "" "" "" "" "" "hepatic;renal" "" "" "" "" "" "" "" "0000124178" "04222" "00151809" "02262" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124330" "04222" "00151966" "02262" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124332" "04222" "00151967" "02262" "Unknown" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124351" "04222" "00151989" "02262" "Familial, autosomal dominant" "" "renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "" "" "" "" "" "" "" "0000128960" "00269" "00163849" "02262" "Familial, autosomal dominant" "47y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "47y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000128961" "00269" "00163850" "02262" "Familial, autosomal dominant" "48y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000128964" "00269" "00163852" "02262" "Familial, autosomal dominant" "40y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "19y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129028" "00269" "00163917" "02262" "Unknown" "03y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129029" "00269" "00163918" "02262" "Familial, autosomal dominant" "57y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "10y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129035" "00269" "00163923" "02262" "Familial, autosomal dominant" "64y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "55y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129144" "00269" "00164029" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "20y" "" "" "40y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129145" "00269" "00164035" "02262" "Familial, autosomal dominant" "47y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "14y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129146" "00269" "00164036" "02262" "Familial, autosomal dominant" "30y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "04y?" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129504" "04222" "00164462" "02262" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129505" "04222" "00164463" "02262" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129510" "00269" "00164472" "02262" "Familial, autosomal dominant" "46y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "33y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129511" "00269" "00164473" "02262" "Unknown" "" "renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129512" "00269" "00164474" "02262" "Familial, autosomal dominant" "49y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129513" "00269" "00164475" "02262" "Familial, autosomal dominant" "28y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "23y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129518" "00269" "00164480" "02262" "Familial, autosomal dominant" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "02y" "" "" "32y" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129557" "00269" "00164516" "02262" "Unknown" "" "no chronic kidney disease (-HP:0012622)" "" "" "" "" "" "" "" "" "" "" "?" "?" "" "" "" "" "" "" "0000129558" "00269" "00164517" "02262" "Familial, autosomal dominant" "48y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129560" "00269" "00164520" "02262" "Familial, autosomal dominant" "" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "17y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "ADPKD" "ADPKD" "" "0000129561" "00269" "00164521" "02262" "Familial, autosomal dominant" "62y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000129562" "00269" "00164522" "02262" "Familial, autosomal dominant" "60y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "35y" "" "" "" "" "" "" "" "" "" "renal" "?" "" "" "" "" "" "" "0000144009" "00344" "00181183" "02552" "Isolated (sporadic)" "" "" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166542" "00269" "00218093" "02262" "Unknown" "63y" "no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)" "46y" "" "" "63y" "" "" "" "" "" "" "renal" "?" "" "" "" "ADPKD" "ADPKD" "" "0000166826" "05427" "00218390" "02262" "Familial, autosomal dominant" "54y" "" "" "" "" "54y" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "ADPKD" "" "0000166830" "05427" "00218392" "02262" "Unknown" "47y" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "ADPKD" "" "0000166831" "05427" "00218398" "02262" "Familial, autosomal dominant" "43y" "" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "ADPKD" "" "0000166833" "05427" "00218400" "02262" "Familial, autosomal dominant" "32y" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "ADPKD" "" "0000166887" "05427" "00218402" "02262" "Familial, autosomal dominant" "42y" "" "32y" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "ADPKD" "" "0000166888" "05427" "00218403" "02262" "-" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "" "" "0000166889" "05427" "00218404" "02262" "Familial, autosomal dominant" "25y" "" "" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "" "" "0000166890" "05427" "00218405" "02262" "Familial, autosomal dominant" "47y" "" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ADPKD" "" "" "0000203028" "05427" "00265200" "03416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000216380" "05611" "00281802" "00006" "Familial, autosomal recessive" "4y6m" "severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; no spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes; infantile spasms; MRI-brain focal thinning of corpus callosum, gray matter heterotopias; dry skin and hypohidrosis; bilateral cataract; normal heart; normal lungs; feeding difficulties, gastrostomy tube; bilateral vesicoureteric reflux grade II; recurrent fever/frequent viral infections; drop foot; craniofacial features thick eyebrows, deep-set eyes, short nasal bridge with anteverted nares, large mouth with prominent lower lip, protruding tongue; gingival hyperplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000223898" "04222" "00296492" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000229770" "04222" "00302686" "03601" "Familial, autosomal dominant" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229780" "04222" "00302696" "03601" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229781" "04222" "00302697" "03601" "Familial, autosomal dominant" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229790" "04222" "00302706" "03601" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229791" "04222" "00302707" "03601" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229792" "04222" "00302708" "03601" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229793" "04222" "00302709" "03601" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229797" "04222" "00302713" "03601" "Isolated (sporadic)" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229798" "04222" "00302714" "03601" "Familial, autosomal dominant" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000229800" "04222" "00302716" "03601" "Familial, autosomal dominant" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "autosomal dominant kidney disease" "" "0000230116" "05521" "00303033" "00006" "Isolated (sporadic)" "" "Genetic Generalized Epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000231728" "04222" "00305881" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000231729" "04222" "00305882" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000231730" "04222" "00305883" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000231731" "04222" "00305884" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000231732" "04222" "00305885" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000232644" "05330" "00306816" "00596" "Unknown" "" "bilateral renal cysts" "" "" "" "" "" "" "rhabdomyoma cardiac;nodules;cysts renal;macules hypomelanotic;epilepsy;cortical tubers" "global" "" "" "" "" "" "" "" "TSC-2;PKD1" "tuberous sclerosis" "" "0000232645" "05427" "00306816" "00596" "Unknown" "" "bilateral renal cysts" "" "" "" "" "" "" "rhabdomyoma cardiac;nodules;cysts renal;macules hypomelanotic;epilepsy;cortical tubers" "global" "" "" "" "" "" "" "" "TSC-2;PKD1" "tuberous sclerosis" "" "0000242185" "00198" "00320139" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Intestinal pseudo-obstruction (HP:0004389)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000278350" "05427" "00383175" "04173" "Familial" "48y" "" "" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant polycystic kidney disease" "" "0000288196" "04214" "00394996" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288197" "04214" "00394997" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288198" "04214" "00394998" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288201" "04214" "00395001" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288202" "04214" "00395002" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288203" "04214" "00395003" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288204" "04214" "00395004" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288205" "04214" "00395005" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288206" "04214" "00395006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288207" "04214" "00395007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288208" "04214" "00395008" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288209" "04214" "00395009" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288210" "04214" "00395010" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288211" "04214" "00395011" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288212" "04214" "00395012" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288213" "04214" "00395013" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288214" "04214" "00395014" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288215" "04214" "00395015" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288216" "04214" "00395016" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288218" "04214" "00395018" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288219" "04214" "00395019" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000288220" "04214" "00395020" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000302655" "00198" "00410552" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset neonatal, polycystic kidney disease, cerebral white matter lesions, depression, anxiety, migraine, family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1;PADMAL" "polycystic kidney disease, progressive leukoencephalopathy" "" "0000302667" "00198" "00410564" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset adulthood, non compaction cardiomyopathy, polycystic kidney disease, family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1;CMD1G" "polycystic kidney disease, noncompaction cardiomyopathy" "" "0000306280" "00198" "00414445" "00000" "Familial, autosomal dominant" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease 1" "" "" "0000310830" "00198" "00419549" "02300" "Isolated (sporadic)" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000310947" "00198" "00419666" "02300" "Unknown" "15y" "renal failure, nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), splenomegaly, cardiomyopathy, beta-thalassemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000317578" "04222" "00426424" "00006" "Unknown" "" "bilateral polycystic kidneys" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "kidney disease" "" "0000318952" "00198" "00428006" "00006" "Familial, autosomal dominant" "68y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease 1" "" "" "0000324779" "04222" "00434373" "01741" "Familial, autosomal dominant" "" "polycystic kidney disease; mother also affected" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000325650" "04222" "00435459" "03282" "Unknown" "" "Bilateral renal cysts without renal enlargement." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333092" "00198" "00443815" "00006" "Unknown" "" "intestinal obstruction" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "" "" "0000337396" "00198" "00448186" "00006" "Familial, autosomal dominant" "13y" "polycystic kidney dysplasia; recurrent infections; immune system dysfunction (sepsis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000338003" "04222" "00448828" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338004" "04222" "00448829" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338008" "04222" "00448833" "00006" "Familial, autosomal dominant" "78y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338009" "04222" "00448834" "00006" "Familial, autosomal dominant" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338010" "04222" "00448835" "00006" "Familial, autosomal dominant" "71y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338011" "04222" "00448836" "00006" "Familial, autosomal dominant" "79y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338012" "04222" "00448837" "00006" "Familial, autosomal dominant" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338013" "04222" "00448838" "00006" "Familial, autosomal dominant" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338014" "04222" "00448839" "00006" "Familial, autosomal dominant" "43y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338015" "04222" "00448840" "00006" "Familial, autosomal dominant" "76y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338016" "04222" "00448841" "00006" "Familial, autosomal dominant" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338018" "04222" "00448843" "00006" "Familial, autosomal dominant" "42y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338019" "04222" "00448844" "00006" "Familial, autosomal dominant" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338020" "04222" "00448845" "00006" "Familial, autosomal dominant" "46y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD2" "polycystic kidney disease" "" "0000338022" "04222" "00448847" "00006" "Familial, autosomal dominant" "49y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD2" "polycystic kidney disease" "" "0000338023" "04222" "00448848" "00006" "Familial, autosomal dominant" "45y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338024" "04222" "00448849" "00006" "Familial, autosomal dominant" "44y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338025" "04222" "00448850" "00006" "Familial, autosomal dominant" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338026" "04222" "00448851" "00006" "Familial, autosomal dominant" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338027" "04222" "00448852" "00006" "Familial, autosomal dominant" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338028" "04222" "00448853" "00006" "Familial, autosomal dominant" "51y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338029" "04222" "00448854" "00006" "Familial, autosomal dominant" "62y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338030" "04222" "00448855" "00006" "Familial, autosomal dominant" "51y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338031" "04222" "00448856" "00006" "Familial, autosomal dominant" "63y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338032" "04222" "00448857" "00006" "Familial, autosomal dominant" "81y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338033" "04222" "00448858" "00006" "Familial, autosomal dominant" "73y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338034" "04222" "00448859" "00006" "Familial, autosomal dominant" "52y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338035" "04222" "00448860" "00006" "Familial, autosomal dominant" "71y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338036" "04222" "00448861" "00006" "Familial, autosomal dominant" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338037" "04222" "00448862" "00006" "Familial, autosomal dominant" "52y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338038" "04222" "00448863" "00006" "Familial, autosomal dominant" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338039" "04222" "00448864" "00006" "Familial, autosomal dominant" "73y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338053" "04222" "00448878" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338054" "04222" "00448879" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338055" "04222" "00448880" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338056" "04222" "00448881" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338057" "04222" "00448882" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338058" "04222" "00448883" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338059" "04222" "00448884" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338060" "04222" "00448885" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338061" "04222" "00448886" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338062" "04222" "00448887" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338063" "04222" "00448888" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338064" "04222" "00448889" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338065" "04222" "00448890" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338066" "04222" "00448891" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338067" "04222" "00448892" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338068" "04222" "00448893" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338069" "04222" "00448894" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338070" "04222" "00448895" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338071" "04222" "00448896" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338072" "04222" "00448897" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338073" "04222" "00448898" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338074" "04222" "00448899" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338075" "04222" "00448900" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338076" "04222" "00448901" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338077" "04222" "00448902" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338078" "04222" "00448903" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338079" "04222" "00448904" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338080" "04222" "00448905" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338081" "04222" "00448906" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338082" "04222" "00448907" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338083" "04222" "00448908" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338084" "04222" "00448909" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338085" "04222" "00448910" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338086" "04222" "00448911" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338087" "04222" "00448912" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338088" "04222" "00448913" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338089" "04222" "00448914" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338090" "04222" "00448915" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338091" "04222" "00448916" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338092" "04222" "00448917" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338093" "04222" "00448918" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338094" "04222" "00448919" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338095" "04222" "00448920" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338096" "04222" "00448921" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338097" "04222" "00448922" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338098" "04222" "00448923" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338099" "04222" "00448924" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338100" "04222" "00448925" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338101" "04222" "00448926" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338102" "04222" "00448927" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338103" "04222" "00448928" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338104" "04222" "00448929" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338105" "04222" "00448930" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338106" "04222" "00448931" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338107" "04222" "00448932" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338108" "04222" "00448933" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338109" "04222" "00448934" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338110" "04222" "00448935" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338111" "04222" "00448936" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338112" "04222" "00448937" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338113" "04222" "00448938" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338114" "04222" "00448939" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338115" "04222" "00448940" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338116" "04222" "00448941" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338117" "04222" "00448942" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338118" "04222" "00448943" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338119" "04222" "00448944" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338120" "04222" "00448945" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338121" "04222" "00448946" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338122" "04222" "00448947" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338123" "04222" "00448948" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338124" "04222" "00448949" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338125" "04222" "00448950" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338126" "04222" "00448951" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338127" "04222" "00448952" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338128" "04222" "00448953" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338129" "04222" "00448954" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338130" "04222" "00448955" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338131" "04222" "00448956" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338132" "04222" "00448957" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338133" "04222" "00448958" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338134" "04222" "00448959" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338135" "04222" "00448960" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338136" "04222" "00448961" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338137" "04222" "00448962" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338138" "04222" "00448963" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338139" "04222" "00448964" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338140" "04222" "00448965" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338141" "04222" "00448966" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338142" "04222" "00448967" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338143" "04222" "00448968" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338144" "04222" "00448969" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338145" "04222" "00448970" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338146" "04222" "00448971" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338147" "04222" "00448972" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338148" "04222" "00448973" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338149" "04222" "00448974" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338150" "04222" "00448975" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338151" "04222" "00448976" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338152" "04222" "00448977" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338153" "04222" "00448978" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338154" "04222" "00448979" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338155" "04222" "00448980" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338156" "04222" "00448981" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338157" "04222" "00448982" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338158" "04222" "00448983" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338159" "04222" "00448984" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338160" "04222" "00448985" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338161" "04222" "00448986" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338162" "04222" "00448987" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338163" "04222" "00448988" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338164" "04222" "00448989" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338165" "04222" "00448990" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338166" "04222" "00448991" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338167" "04222" "00448992" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338168" "04222" "00448993" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338169" "04222" "00448994" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338170" "04222" "00448995" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338171" "04222" "00448996" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338172" "04222" "00448997" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338173" "04222" "00448998" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338174" "04222" "00448999" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338175" "04222" "00449000" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338176" "04222" "00449001" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338177" "04222" "00449002" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338178" "04222" "00449003" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338179" "04222" "00449004" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338180" "04222" "00449005" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338181" "04222" "00449006" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338182" "04222" "00449007" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338183" "04222" "00449008" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338184" "04222" "00449009" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338185" "04222" "00449010" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338186" "04222" "00449011" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338187" "04222" "00449012" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338188" "04222" "00449013" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338189" "04222" "00449014" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338190" "04222" "00449015" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338191" "04222" "00449016" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338192" "04222" "00449017" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338193" "04222" "00449018" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338194" "04222" "00449019" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338195" "04222" "00449020" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338196" "04222" "00449021" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338197" "04222" "00449022" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338198" "04222" "00449023" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338199" "04222" "00449024" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338200" "04222" "00449025" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338201" "04222" "00449026" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338202" "04222" "00449027" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338203" "04222" "00449028" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338204" "04222" "00449029" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338205" "04222" "00449030" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338206" "04222" "00449031" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338207" "04222" "00449032" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338208" "04222" "00449033" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338209" "04222" "00449034" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338210" "04222" "00449035" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338211" "04222" "00449036" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338212" "04222" "00449037" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338213" "04222" "00449038" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338214" "04222" "00449039" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338215" "04222" "00449040" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338216" "04222" "00449041" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338217" "04222" "00449042" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338218" "04222" "00449043" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338219" "04222" "00449044" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338220" "04222" "00449045" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338221" "04222" "00449046" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338222" "04222" "00449047" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338223" "04222" "00449048" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338224" "04222" "00449049" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338225" "04222" "00449050" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338226" "04222" "00449051" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338227" "04222" "00449052" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338228" "04222" "00449053" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338229" "04222" "00449054" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338230" "04222" "00449055" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338231" "04222" "00449056" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338232" "04222" "00449057" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338233" "04222" "00449058" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338234" "04222" "00449059" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338235" "04222" "00449060" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338236" "04222" "00449061" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338237" "04222" "00449062" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338238" "04222" "00449063" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338239" "04222" "00449064" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338240" "04222" "00449065" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338241" "04222" "00449066" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338242" "04222" "00449067" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338243" "04222" "00449068" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338244" "04222" "00449069" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338245" "04222" "00449070" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338246" "04222" "00449071" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338247" "04222" "00449072" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338248" "04222" "00449073" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338249" "04222" "00449074" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338250" "04222" "00449075" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338251" "04222" "00449076" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338252" "04222" "00449077" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338253" "04222" "00449078" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338254" "04222" "00449079" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338255" "04222" "00449080" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338256" "04222" "00449081" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338257" "04222" "00449082" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338258" "04222" "00449083" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338259" "04222" "00449084" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338260" "04222" "00449085" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338261" "04222" "00449086" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338262" "04222" "00449087" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338263" "04222" "00449088" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338264" "04222" "00449089" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338265" "04222" "00449090" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338266" "04222" "00449091" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338267" "04222" "00449092" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338268" "04222" "00449093" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338269" "04222" "00449094" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338270" "04222" "00449095" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338271" "04222" "00449096" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338272" "04222" "00449097" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338273" "04222" "00449098" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338274" "04222" "00449099" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338275" "04222" "00449100" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338276" "04222" "00449101" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338277" "04222" "00449102" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338278" "04222" "00449103" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338279" "04222" "00449104" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338280" "04222" "00449105" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338281" "04222" "00449106" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338282" "04222" "00449107" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338283" "04222" "00449108" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338284" "04222" "00449109" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338285" "04222" "00449110" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338286" "04222" "00449111" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338287" "04222" "00449112" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338288" "04222" "00449113" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338289" "04222" "00449114" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338290" "04222" "00449115" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338291" "04222" "00449116" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338292" "04222" "00449117" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338293" "04222" "00449118" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338294" "04222" "00449119" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338295" "04222" "00449120" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338296" "04222" "00449121" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338297" "04222" "00449122" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338298" "04222" "00449123" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338299" "04222" "00449124" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338300" "04222" "00449125" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338301" "04222" "00449126" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338302" "04222" "00449127" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338303" "04222" "00449128" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338304" "04222" "00449129" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338305" "04222" "00449130" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338306" "04222" "00449131" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338307" "04222" "00449132" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338308" "04222" "00449133" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338309" "04222" "00449134" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338310" "04222" "00449135" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338311" "04222" "00449136" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338312" "04222" "00449137" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338313" "04222" "00449138" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338314" "04222" "00449139" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338315" "04222" "00449140" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338316" "04222" "00449141" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338317" "04222" "00449142" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338318" "04222" "00449143" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338319" "04222" "00449144" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338320" "04222" "00449145" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338321" "04222" "00449146" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338322" "04222" "00449147" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338323" "04222" "00449148" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338324" "04222" "00449149" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338325" "04222" "00449150" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338326" "04222" "00449151" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338327" "04222" "00449152" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338328" "04222" "00449153" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338329" "04222" "00449154" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338330" "04222" "00449155" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338331" "04222" "00449156" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338332" "04222" "00449157" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338333" "04222" "00449158" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338334" "04222" "00449159" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338335" "04222" "00449160" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338336" "04222" "00449161" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338337" "04222" "00449162" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338338" "04222" "00449163" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338339" "04222" "00449164" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338340" "04222" "00449165" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338341" "04222" "00449166" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338342" "04222" "00449167" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338343" "04222" "00449168" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338344" "04222" "00449169" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338345" "04222" "00449170" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338346" "04222" "00449171" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338347" "04222" "00449172" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338348" "04222" "00449173" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338349" "04222" "00449174" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338350" "04222" "00449175" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338351" "04222" "00449176" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338352" "04222" "00449177" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338353" "04222" "00449178" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338354" "04222" "00449179" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338355" "04222" "00449180" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338356" "04222" "00449181" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338357" "04222" "00449182" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338358" "04222" "00449183" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338359" "04222" "00449184" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338360" "04222" "00449185" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338361" "04222" "00449186" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338362" "04222" "00449187" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338363" "04222" "00449188" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338364" "04222" "00449189" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338365" "04222" "00449190" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338366" "04222" "00449191" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338367" "04222" "00449192" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338368" "04222" "00449193" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338369" "04222" "00449194" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338370" "04222" "00449195" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338371" "04222" "00449196" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338372" "04222" "00449197" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338373" "04222" "00449198" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338374" "04222" "00449199" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338375" "04222" "00449200" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338376" "04222" "00449201" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338377" "04222" "00449202" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338378" "04222" "00449203" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338379" "04222" "00449204" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338380" "04222" "00449205" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338381" "04222" "00449206" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338382" "04222" "00449207" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338383" "04222" "00449208" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338384" "04222" "00449209" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338385" "04222" "00449210" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338386" "04222" "00449211" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338387" "04222" "00449212" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338388" "04222" "00449213" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338389" "04222" "00449214" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338390" "04222" "00449215" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338391" "04222" "00449216" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338392" "04222" "00449217" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338393" "04222" "00449218" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338394" "04222" "00449219" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338395" "04222" "00449220" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338396" "04222" "00449221" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338397" "04222" "00449222" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338398" "04222" "00449223" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338399" "04222" "00449224" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338400" "04222" "00449225" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338401" "04222" "00449226" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338402" "04222" "00449227" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338403" "04222" "00449228" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338404" "04222" "00449229" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338405" "04222" "00449230" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338406" "04222" "00449231" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338407" "04222" "00449232" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338408" "04222" "00449233" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338409" "04222" "00449234" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338410" "04222" "00449235" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338411" "04222" "00449236" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338412" "04222" "00449237" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338413" "04222" "00449238" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338414" "04222" "00449239" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338415" "04222" "00449240" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338416" "04222" "00449241" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338417" "04222" "00449242" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338418" "04222" "00449243" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338419" "04222" "00449244" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338420" "04222" "00449245" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338421" "04222" "00449246" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338422" "04222" "00449247" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338423" "04222" "00449248" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338424" "04222" "00449249" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338518" "04222" "00449343" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338519" "04222" "00449344" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338520" "04222" "00449345" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338521" "04222" "00449346" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338522" "04222" "00449347" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338523" "04222" "00449348" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338524" "04222" "00449349" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338525" "04222" "00449350" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338526" "04222" "00449351" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338527" "04222" "00449352" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338528" "04222" "00449353" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338529" "04222" "00449354" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338530" "04222" "00449355" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338531" "04222" "00449356" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338532" "04222" "00449357" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338533" "04222" "00449358" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338534" "04222" "00449359" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338535" "04222" "00449360" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338536" "04222" "00449361" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338537" "04222" "00449362" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338538" "04222" "00449363" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338539" "04222" "00449364" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338540" "04222" "00449365" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338541" "04222" "00449366" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338542" "04222" "00449367" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338543" "04222" "00449368" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338544" "04222" "00449369" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338545" "04222" "00449370" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338546" "04222" "00449371" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338547" "04222" "00449372" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338548" "04222" "00449373" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338549" "04222" "00449374" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338550" "04222" "00449375" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338551" "04222" "00449376" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338552" "04222" "00449377" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338553" "04222" "00449378" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338554" "04222" "00449379" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338555" "04222" "00449380" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338556" "04222" "00449381" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338557" "04222" "00449382" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338558" "04222" "00449383" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338559" "04222" "00449384" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338560" "04222" "00449385" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338561" "04222" "00449386" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338562" "04222" "00449387" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338563" "04222" "00449388" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338564" "04222" "00449389" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338565" "04222" "00449390" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338566" "04222" "00449391" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338567" "04222" "00449392" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338568" "04222" "00449393" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338569" "04222" "00449394" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338570" "04222" "00449395" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338571" "04222" "00449396" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338572" "04222" "00449397" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338573" "04222" "00449398" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338574" "04222" "00449399" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338575" "04222" "00449400" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338576" "04222" "00449401" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338577" "04222" "00449402" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338578" "04222" "00449403" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338579" "04222" "00449404" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338580" "04222" "00449405" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338581" "04222" "00449406" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338582" "04222" "00449407" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338583" "04222" "00449408" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338584" "04222" "00449409" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338585" "04222" "00449410" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338586" "04222" "00449411" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338587" "04222" "00449412" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338588" "04222" "00449413" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338589" "04222" "00449414" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338590" "04222" "00449415" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338591" "04222" "00449416" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338592" "04222" "00449417" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338593" "04222" "00449418" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338594" "04222" "00449419" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338595" "04222" "00449420" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338596" "04222" "00449421" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338597" "04222" "00449422" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338598" "04222" "00449423" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338599" "04222" "00449424" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338600" "04222" "00449425" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338601" "04222" "00449426" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338602" "04222" "00449427" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338603" "04222" "00449428" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338604" "04222" "00449429" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338605" "04222" "00449430" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338606" "04222" "00449431" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338607" "04222" "00449432" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338608" "04222" "00449433" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338609" "04222" "00449434" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338610" "04222" "00449435" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338611" "04222" "00449436" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338612" "04222" "00449437" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338613" "04222" "00449438" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338614" "04222" "00449439" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338615" "04222" "00449440" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338616" "04222" "00449441" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338617" "04222" "00449442" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338618" "04222" "00449443" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338619" "04222" "00449444" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338620" "04222" "00449445" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338621" "04222" "00449446" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338622" "04222" "00449447" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338623" "04222" "00449448" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338624" "04222" "00449449" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338631" "04222" "00449456" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338632" "04222" "00449457" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338633" "04222" "00449458" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338634" "04222" "00449459" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338635" "04222" "00449460" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338636" "04222" "00449461" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338637" "04222" "00449462" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338638" "04222" "00449463" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338639" "04222" "00449464" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338640" "04222" "00449465" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338641" "04222" "00449466" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338642" "04222" "00449467" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338643" "04222" "00449468" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338644" "04222" "00449469" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338645" "04222" "00449470" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338646" "04222" "00449471" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338647" "04222" "00449472" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338648" "04222" "00449473" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338649" "04222" "00449474" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338650" "04222" "00449475" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338651" "04222" "00449476" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338652" "04222" "00449477" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338653" "04222" "00449478" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338654" "04222" "00449479" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338655" "04222" "00449480" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338656" "04222" "00449481" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338657" "04222" "00449482" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338658" "04222" "00449483" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338659" "04222" "00449484" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338660" "04222" "00449485" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338661" "04222" "00449486" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338662" "04222" "00449487" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338663" "04222" "00449488" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338664" "04222" "00449489" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338665" "04222" "00449490" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338666" "04222" "00449491" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338667" "04222" "00449492" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338668" "04222" "00449493" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338669" "04222" "00449494" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338670" "04222" "00449495" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338671" "04222" "00449496" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338672" "04222" "00449497" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338673" "04222" "00449498" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338674" "04222" "00449499" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338675" "04222" "00449500" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338676" "04222" "00449501" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338680" "04222" "00449505" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338681" "04222" "00449506" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338682" "04222" "00449507" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338683" "04222" "00449508" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338684" "04222" "00449509" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338685" "04222" "00449510" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338686" "04222" "00449511" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338687" "04222" "00449512" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338688" "04222" "00449513" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338689" "04222" "00449514" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338690" "04222" "00449515" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338691" "04222" "00449516" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338692" "04222" "00449517" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338693" "04222" "00449518" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338694" "04222" "00449519" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338695" "04222" "00449520" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338696" "04222" "00449521" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338697" "04222" "00449522" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338698" "04222" "00449523" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338699" "04222" "00449524" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338700" "04222" "00449525" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338701" "04222" "00449526" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338702" "04222" "00449527" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338703" "04222" "00449528" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338704" "04222" "00449529" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000338705" "04222" "00449530" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342023" "04222" "00453360" "00006" "Familial, autosomal dominant" "2y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342024" "04222" "00453361" "00006" "Familial, autosomal dominant" "32y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342025" "04222" "00453362" "00006" "Unknown" "17y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342026" "04222" "00453363" "00006" "Unknown" "8y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342027" "04222" "00453364" "00006" "Familial, autosomal dominant" "0y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342028" "04222" "00453365" "00006" "Familial, autosomal dominant" "26y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342029" "04222" "00453366" "00006" "Familial, autosomal dominant" "13y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342030" "04222" "00453367" "00006" "Familial, autosomal dominant" "11y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342031" "04222" "00453368" "00006" "Familial, autosomal dominant" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342032" "04222" "00453369" "00006" "Familial, autosomal dominant" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342033" "04222" "00453370" "00006" "Unknown" "56y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342034" "04222" "00453371" "00006" "Unknown" "0y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342035" "04222" "00453372" "00006" "Familial, autosomal dominant" "0y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342036" "04222" "00453373" "00006" "Familial, autosomal dominant" "36y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342037" "04222" "00453374" "00006" "Familial, autosomal dominant" "35y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342038" "04222" "00453375" "00006" "Familial, autosomal dominant" "3y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342039" "04222" "00453376" "00006" "Unknown" "43y" "bilateral polycystic kidneys in ultrasound, his mother has PKD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342040" "04222" "00453377" "00006" "Unknown" "22y" "bilateral polycystic kidneys in ultrasound, her mother, grandfather and sister have PKD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342041" "04222" "00453378" "00006" "Unknown" "53y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342042" "04222" "00453379" "00006" "Familial, autosomal dominant" "20y" "bilateral polycystic kidneys in ultrasound and hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342043" "04222" "00453380" "00006" "Familial, autosomal dominant" "53y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342044" "04222" "00453381" "00006" "Unknown" "35y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342045" "04222" "00453382" "00006" "Unknown" "26y" "bilateral polycystic kidneys in ultrasound, polycystic over, intracerebral cyst, no family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342046" "04222" "00453383" "00006" "Familial, autosomal dominant" "53y" "multiple liver cysts, bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342047" "04222" "00453384" "00006" "Unknown" "49y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342048" "04222" "00453385" "00006" "Unknown" "63y" "bilateral polycystic kidneys, polycystic liver and hepatosteatosis in ultrasound, his sister has PKD, kre:1.44 eGFR 51ml/dk/1.73 m2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342049" "04222" "00453386" "00006" "Unknown" "24y" "pregnant, 26w-fetus with anhydramnios, polycystic kidney disease, bilateral pes equinovarus, thoracic hypoplasia, right lateral ventriculomegaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342050" "04222" "00453387" "00006" "Familial, autosomal dominant" "" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342051" "04222" "00453388" "00006" "Familial, autosomal dominant" "52y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342052" "04222" "00453389" "00006" "Unknown" "63y" "bilateral polycystic kidneys and polycystic liver in ultrasound, choledocholithiasis, nephrolithiasis, hypertension, adrenal adenoma. His mother also has polycystic liver, and a few cysts on kidneys without renal enlargement" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342053" "04222" "00453390" "00006" "Unknown" "22y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342054" "04222" "00453391" "00006" "Unknown" "23y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342055" "04222" "00453392" "00006" "Unknown" "35y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "polycystic kidney disease" "" "0000342109" "04222" "00453445" "03544" "Familial, autosomal dominant" "" "HP:0005562; kidney disease, chronic (HP:0012622)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "" "" "0000342125" "04222" "00453461" "03544" "Isolated (sporadic)" "" "HP:0000077, HP:0005562" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "" "" "0000342409" "00152" "00453752" "00006" "Unknown" "" "aortic valve replacement, ascending aortic replacement; large ascending aneurysm" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000346612" "00269" "00458176" "01164" "Isolated (sporadic)" "13y" "kidney disease, chronic (HP:0012622); neurodevelopmental delay, polycystic kidney dysplasia, Arachnoid cyst, migraine without aura; renal cysts (HP:0000107); arachnoid cysts (HP:0100702)" "" "" "" "" "" "" "" "" "" "" "arachnoid;renal" "" "" "" "" "" "" "" "0000346613" "00189" "00458176" "01164" "Isolated (sporadic)" "13y" "Neurodevelopmental delay, Polycystic kidney dysplasia, Arachnoid cyst, Migraine without aura" "" "" "no" "" "" "" "autism;cysts renal" "global" "" "yes" "" "" "" "" "" "" "" "" "0000351137" "05427" "00465589" "04614" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "PKD1" "dolycystic kidney disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1038 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017038" "00017058" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017039" "00017059" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017042" "00017062" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017043" "00017063" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017915" "00017932" "1" "00006" "00006" "2014-06-17 14:39:51" "" "" "HD;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017916" "00017933" "1" "00006" "00006" "2014-06-17 14:58:24" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000017917" "00017934" "1" "00006" "00006" "2014-06-17 15:17:04" "00006" "2014-06-17 15:21:15" "HD;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017918" "00017935" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017919" "00017936" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017920" "00017937" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017921" "00017938" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017922" "00017939" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017924" "00017941" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017927" "00017944" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017928" "00017945" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017931" "00017948" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017932" "00017949" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017933" "00017950" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017937" "00017954" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017938" "00017955" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017939" "00017956" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017940" "00017957" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:09:44" "SEQ" "DNA" "" "" "0000017943" "00017960" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:23:40" "HD;SEQ" "DNA" "" "" "0000017944" "00017961" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:38:39" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017945" "00017962" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:41:57" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017946" "00017963" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:48:46" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017947" "00017964" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:53:54" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017948" "00017965" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 11:58:21" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017949" "00017966" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000017950" "00017967" "1" "00006" "00006" "2014-06-17 17:09:43" "00006" "2014-07-18 12:06:05" "PTT;RT-PCR;SEQ" "DNA;RNA" "" "" "0000018026" "00018043" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000018045" "00018062" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000018046" "00018063" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000018047" "00018064" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000018298" "00018315" "1" "00006" "00006" "2014-06-17 17:09:43" "" "" "SEQ" "DNA" "" "" "0000032407" "00032340" "1" "00006" "00006" "2015-02-14 21:15:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000050078" "00050133" "1" "00753" "00006" "2015-09-25 15:40:59" "" "" "SEQ" "DNA" "" "" "0000058805" "00058842" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058806" "00058843" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058807" "00058844" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058808" "00058845" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058809" "00058846" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058810" "00058847" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058811" "00058848" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058812" "00058849" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058813" "00058850" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058814" "00058851" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058815" "00058852" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058816" "00058853" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058817" "00058854" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058818" "00058855" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058819" "00058856" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058823" "00058860" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058824" "00058861" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058825" "00058862" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058826" "00058863" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058827" "00058864" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058829" "00058866" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058830" "00058867" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058831" "00058868" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058832" "00058869" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058833" "00058870" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058834" "00058871" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058835" "00058872" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058836" "00058873" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058837" "00058874" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058838" "00058875" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058839" "00058876" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058840" "00058877" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058841" "00058878" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058842" "00058879" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058843" "00058880" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058844" "00058881" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058845" "00058882" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058846" "00058883" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058847" "00058884" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058848" "00058885" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058849" "00058886" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058850" "00058887" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058851" "00058888" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058852" "00058889" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058853" "00058890" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058854" "00058891" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058855" "00058892" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058856" "00058893" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058857" "00058894" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058858" "00058895" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058859" "00058896" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058860" "00058897" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058861" "00058898" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058862" "00058899" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058863" "00058900" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058864" "00058901" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058865" "00058902" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058866" "00058903" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058867" "00058904" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058868" "00058905" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058869" "00058906" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058870" "00058907" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058871" "00058908" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058872" "00058909" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058873" "00058910" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058874" "00058911" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058875" "00058912" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058876" "00058913" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058877" "00058914" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058878" "00058915" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058879" "00058916" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058880" "00058917" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058881" "00058918" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058882" "00058919" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058883" "00058920" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058884" "00058921" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058885" "00058922" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058886" "00058923" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058887" "00058924" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058888" "00058925" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058889" "00058926" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058890" "00058927" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058891" "00058928" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058893" "00058930" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058895" "00058932" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058896" "00058933" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058897" "00058934" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058898" "00058935" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058899" "00058936" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058900" "00058937" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058901" "00058938" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058902" "00058939" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058903" "00058940" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058906" "00058943" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058907" "00058944" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058908" "00058945" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058909" "00058946" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058910" "00058947" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058911" "00058948" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058914" "00058951" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058915" "00058952" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058916" "00058953" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058917" "00058954" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058918" "00058955" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058919" "00058956" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058920" "00058957" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058921" "00058958" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058922" "00058959" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058923" "00058960" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058924" "00058961" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058925" "00058962" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058926" "00058963" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058927" "00058964" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058929" "00058966" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058930" "00058967" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058931" "00058968" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058932" "00058969" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058933" "00058970" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058934" "00058971" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058935" "00058972" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058936" "00058973" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058937" "00058974" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058938" "00058975" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058939" "00058976" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058940" "00058977" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058941" "00058978" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058942" "00058979" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058943" "00058980" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058946" "00058983" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058947" "00058984" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058948" "00058985" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058949" "00058986" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058950" "00058987" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058951" "00058988" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058952" "00058989" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058953" "00058990" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058954" "00058991" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058957" "00058994" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058958" "00058995" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058959" "00058996" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058960" "00058997" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058961" "00058998" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058962" "00058999" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058963" "00059000" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058964" "00059001" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058965" "00059002" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058966" "00059003" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058967" "00059004" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058968" "00059005" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058970" "00059007" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058972" "00059009" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058974" "00059011" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058975" "00059012" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058976" "00059013" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058977" "00059014" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058978" "00059015" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058979" "00059016" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058980" "00059017" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000058981" "00059018" "1" "00753" "00753" "2016-01-10 14:30:07" "" "" "SEQ" "DNA" "blood" "" "0000081211" "00081099" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000087267" "00087128" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087268" "00087129" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087269" "00087130" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087270" "00087131" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087271" "00087132" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087272" "00087133" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ" "DNA" "" "" "0000087273" "00087134" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087274" "00087135" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087275" "00087136" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ" "DNA" "" "" "0000087276" "00087137" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087277" "00087138" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ" "DNA" "" "" "0000087278" "00087139" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087279" "00087140" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087280" "00087141" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087281" "00087142" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087282" "00087143" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087283" "00087144" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087284" "00087145" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087285" "00087146" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087286" "00087147" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087287" "00087148" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087288" "00087149" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087289" "00087150" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087290" "00087151" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087291" "00087152" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087292" "00087153" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087293" "00087154" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087294" "00087155" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087295" "00087156" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087296" "00087157" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087297" "00087158" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087298" "00087159" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087299" "00087160" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087300" "00087161" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087301" "00087162" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087302" "00087163" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087303" "00087164" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087304" "00087165" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087305" "00087166" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087306" "00087167" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087307" "00087168" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087308" "00087169" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087309" "00087170" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087310" "00087171" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ" "DNA" "" "" "0000087311" "00087172" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087312" "00087173" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087313" "00087174" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087314" "00087175" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087315" "00087176" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087316" "00087177" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087317" "00087178" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ" "DNA" "" "" "0000087318" "00087179" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087319" "00087180" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087320" "00087181" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087321" "00087182" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087322" "00087183" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087323" "00087184" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087324" "00087185" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087325" "00087186" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087326" "00087187" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087327" "00087188" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087328" "00087189" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087329" "00087190" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087330" "00087191" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087331" "00087192" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087332" "00087193" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087333" "00087194" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087334" "00087195" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087335" "00087196" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087336" "00087197" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087337" "00087198" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087338" "00087199" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087339" "00087200" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000087340" "00087201" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087341" "00087202" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087342" "00087203" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000087343" "00087204" "1" "01808" "00008" "2016-11-14 14:59:26" "" "" "SEQ-PB" "DNA" "" "" "0000089181" "00089036" "1" "01741" "01741" "2016-11-28 12:55:46" "" "" "SEQ" "DNA" "" "" "0000104499" "00104028" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104509" "00104038" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000132732" "00131900" "1" "02262" "02262" "2017-09-27 12:09:26" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000132765" "00131922" "1" "02262" "02262" "2017-10-02 14:43:55" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000132766" "00131923" "1" "02262" "02262" "2017-10-02 14:55:49" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000132770" "00131926" "1" "02262" "02262" "2017-10-02 15:41:52" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000132775" "00131933" "1" "02262" "02262" "2017-10-03 12:09:51" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "Targeted gene sequencing" "0000132776" "00131934" "1" "02262" "02262" "2017-10-03 12:45:41" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "Targeted gene sequencing" "0000132779" "00131939" "1" "02262" "02262" "2017-10-03 15:31:29" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "Targeted gene sequencing" "0000132780" "00131940" "1" "02262" "02262" "2017-10-03 15:40:52" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "Targeted gene sequencing" "0000132877" "00132037" "1" "02262" "02262" "2017-10-11 12:26:28" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "Ampliseq" "0000132878" "00132038" "1" "02262" "02262" "2017-10-11 15:35:57" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000132918" "00132080" "1" "02262" "02262" "2017-10-19 12:30:07" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000132919" "00132081" "1" "02262" "02262" "2017-10-19 15:33:00" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133488" "00132654" "1" "02262" "02262" "2017-11-02 15:33:39" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133494" "00132659" "1" "02262" "02262" "2017-11-03 10:26:17" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133495" "00132660" "1" "02262" "02262" "2017-11-03 12:12:40" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133496" "00132661" "1" "02262" "02262" "2017-11-03 13:02:52" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133571" "00132736" "1" "02262" "02262" "2017-11-03 15:12:05" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133572" "00132737" "1" "02262" "02262" "2017-11-03 16:11:15" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133573" "00132738" "1" "02262" "02262" "2017-11-03 16:30:27" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000133574" "00132739" "1" "02262" "02262" "2017-11-03 16:41:31" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000145303" "00144445" "1" "02262" "02262" "2017-12-14 16:06:32" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "target sequencing" "0000145305" "00144447" "1" "02262" "02262" "2017-12-14 16:35:59" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000145309" "00144451" "1" "02262" "02262" "2017-12-14 18:16:27" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000145360" "00144503" "1" "02262" "02262" "2017-12-15 11:50:45" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000145361" "00144504" "1" "02262" "02262" "2017-12-15 12:12:12" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "target sequencing" "0000145362" "00144505" "1" "02262" "02262" "2017-12-15 12:29:35" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152650" "00151795" "1" "02262" "02262" "2018-01-22 12:42:35" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152651" "00151796" "1" "02262" "02262" "2018-01-22 13:02:46" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152652" "00151797" "1" "02262" "02262" "2018-01-22 15:16:40" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152653" "00151798" "1" "02262" "02262" "2018-01-22 16:16:32" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152654" "00151799" "1" "02262" "02262" "2018-01-22 16:29:28" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152655" "00151800" "1" "02262" "02262" "2018-01-22 17:02:01" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152656" "00151801" "1" "02262" "02262" "2018-01-22 17:09:51" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152657" "00151802" "1" "02262" "02262" "2018-01-22 17:30:36" "" "" "SEQ-NG-IT" "DNA" "" "" "0000152658" "00132655" "1" "02262" "02262" "2018-01-22 17:34:48" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152659" "00151423" "1" "02262" "02262" "2018-01-22 17:39:52" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000152660" "00151803" "1" "02262" "02262" "2018-01-23 10:49:54" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152661" "00151804" "1" "02262" "02262" "2018-01-23 11:13:57" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152662" "00151805" "1" "02262" "02262" "2018-01-23 12:00:52" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152663" "00151806" "1" "02262" "02262" "2018-01-23 12:21:31" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152664" "00151807" "1" "02262" "02262" "2018-01-23 12:43:24" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152665" "00151808" "1" "02262" "02262" "2018-01-24 12:13:43" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152666" "00151809" "1" "02262" "02262" "2018-01-24 12:21:27" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000152823" "00151966" "1" "02262" "02262" "2018-01-29 11:36:46" "" "" "SEQ-NG" "DNA" "" "" "0000152824" "00151967" "1" "02262" "02262" "2018-01-29 16:07:09" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000152825" "00151968" "1" "02262" "02262" "2018-01-29 16:14:14" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000152845" "00151989" "1" "02262" "02262" "2018-01-30 10:12:00" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000152883" "00152029" "1" "01741" "01741" "2018-02-01 14:36:42" "" "" "SEQ" "DNA" "" "" "0000164712" "00163849" "1" "02262" "02262" "2018-04-20 11:43:31" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000164714" "00163850" "1" "02262" "02262" "2018-04-20 12:46:27" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000164716" "00163852" "1" "02262" "02262" "2018-04-20 15:28:33" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000164781" "00163917" "1" "02262" "02262" "2018-04-23 11:51:54" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000164786" "00163918" "1" "02262" "02262" "2018-04-23 15:01:25" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000164787" "00163923" "1" "02262" "02262" "2018-04-23 15:30:17" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000164901" "00164029" "1" "02262" "02262" "2018-05-08 14:31:34" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000164902" "00164035" "1" "02262" "02262" "2018-05-08 14:57:23" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000164903" "00164036" "1" "02262" "02262" "2018-05-08 15:44:20" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000165330" "00164462" "1" "02262" "02262" "2018-05-22 17:36:39" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000165331" "00164463" "1" "02262" "02262" "2018-05-22 17:55:17" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000165339" "00164472" "1" "02262" "02262" "2018-05-24 12:07:47" "02262" "2018-05-24 12:23:07" "SEQ-NG-IT" "DNA" "Peripheral blood" "v.mantovani" "0000165340" "00164473" "1" "02262" "02262" "2018-05-24 12:33:55" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000165341" "00164474" "1" "02262" "02262" "2018-05-24 12:50:22" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000165342" "00164475" "1" "02262" "02262" "2018-05-24 14:13:35" "" "" "SEQ-NG-IT" "DNA" "Peripheral blood" "" "0000165346" "00164480" "1" "02262" "02262" "2018-05-28 10:50:24" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000165382" "00164516" "1" "02262" "02262" "2018-05-30 10:12:49" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000165383" "00164517" "1" "02262" "02262" "2018-05-30 10:34:12" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "target sequencing" "0000165385" "00164520" "1" "02262" "02262" "2018-05-30 12:09:36" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "target sequencing" "0000165386" "00164521" "1" "02262" "02262" "2018-05-30 13:58:43" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "target sequencing" "0000165387" "00164522" "1" "02262" "02262" "2018-05-30 14:21:19" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "target sequencing" "0000182141" "00181183" "1" "02552" "02552" "2018-10-02 15:22:07" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000219163" "00218093" "1" "02262" "02262" "2019-01-22 12:08:58" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219460" "00218390" "1" "02262" "02262" "2019-01-25 14:17:42" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219465" "00218392" "1" "02262" "02262" "2019-01-25 15:03:33" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219466" "00218397" "1" "02262" "02262" "2019-01-25 15:13:54" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219467" "00218398" "1" "02262" "02262" "2019-01-25 15:29:16" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219469" "00218400" "1" "02262" "02262" "2019-01-25 16:14:55" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219471" "00218402" "1" "02262" "02262" "2019-01-28 11:23:47" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219472" "00218403" "1" "02262" "02262" "2019-01-28 11:32:55" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219473" "00218404" "1" "02262" "02262" "2019-01-28 11:53:31" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000219474" "00218405" "1" "02262" "02262" "2019-01-28 12:16:13" "" "" "SEQ-NG-IT" "DNA" "peripheral blood" "" "0000266320" "00265200" "1" "03416" "03416" "2019-09-13 20:59:30" "" "" "SEQ-NG-I" "DNA" "blood" "clinical exome sequencing" "0000282948" "00281802" "1" "00006" "00006" "2020-02-03 19:33:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292585" "00291417" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292586" "00291418" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292587" "00291419" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297602" "00296492" "1" "00006" "00006" "2020-04-07 09:24:43" "" "" "SEQ" "DNA" "" "" "0000303812" "00302686" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303822" "00302696" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303823" "00302697" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303832" "00302706" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303833" "00302707" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303834" "00302708" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303835" "00302709" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303839" "00302713" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303840" "00302714" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303842" "00302716" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000304158" "00303033" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000307011" "00305881" "1" "00006" "00006" "2020-07-04 13:35:57" "" "" "SEQ" "DNA" "" "" "0000307012" "00305882" "1" "00006" "00006" "2020-07-04 13:40:22" "" "" "SEQ" "DNA" "" "" "0000307013" "00305883" "1" "00006" "00006" "2020-07-04 13:43:48" "" "" "SEQ" "DNA" "" "" "0000307014" "00305884" "1" "00006" "00006" "2020-07-04 13:50:54" "" "" "SEQ" "DNA" "" "" "0000307015" "00305885" "1" "00006" "00006" "2020-07-04 14:07:40" "" "" "SEQ" "DNA" "" "" "0000307952" "00306816" "1" "00596" "00596" "2020-07-20 14:30:39" "" "" "arraySNP" "DNA" "Blood" "whole genome SNP Microarray (Reveal®) used" "0000321324" "00320139" "1" "01807" "01807" "2020-11-23 17:35:46" "00001" "2020-11-23 17:36:55" "SEQ" "DNA" "" "" "0000378792" "00377588" "1" "01741" "01741" "2021-07-28 15:12:39" "" "" "SEQ" "DNA" "blood" "" "0000384399" "00383175" "1" "04173" "04173" "2021-09-27 15:35:36" "" "" "ARMS" "DNA" "" "" "0000396242" "00394996" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396243" "00394997" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396244" "00394998" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396247" "00395001" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396248" "00395002" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396249" "00395003" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396250" "00395004" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396251" "00395005" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396252" "00395006" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396253" "00395007" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396254" "00395008" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396255" "00395009" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396256" "00395010" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396257" "00395011" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396258" "00395012" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396259" "00395013" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396260" "00395014" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396261" "00395015" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396262" "00395016" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396264" "00395018" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396265" "00395019" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396266" "00395020" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000411817" "00410552" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES duo" "0000411829" "00410564" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415725" "00414445" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420853" "00419549" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420970" "00419666" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000427744" "00426424" "1" "00006" "00006" "2022-11-30 11:45:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429419" "00428006" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000435841" "00434373" "1" "01741" "01741" "2023-03-24 09:14:10" "" "" "SEQ" "DNA" "" "" "0000436938" "00435459" "1" "03282" "03282" "2023-07-27 23:41:28" "" "" "SEQ-NG" "DNA" "" "" "0000445312" "00443815" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000449761" "00448186" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450419" "00448828" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450420" "00448829" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450424" "00448833" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450425" "00448834" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450426" "00448835" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450427" "00448836" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450428" "00448837" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450429" "00448838" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450430" "00448839" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450431" "00448840" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450432" "00448841" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450434" "00448843" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450435" "00448844" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450436" "00448845" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450438" "00448847" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450439" "00448848" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450440" "00448849" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450441" "00448850" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450442" "00448851" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450443" "00448852" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450444" "00448853" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450445" "00448854" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450446" "00448855" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450447" "00448856" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450448" "00448857" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450449" "00448858" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450450" "00448859" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450451" "00448860" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450452" "00448861" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450453" "00448862" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450454" "00448863" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450455" "00448864" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000450469" "00448878" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450470" "00448879" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450471" "00448880" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450472" "00448881" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450473" "00448882" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450474" "00448883" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450475" "00448884" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450476" "00448885" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450477" "00448886" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450478" "00448887" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450479" "00448888" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450480" "00448889" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450481" "00448890" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450482" "00448891" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450483" "00448892" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450484" "00448893" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450485" "00448894" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450486" "00448895" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450487" "00448896" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450488" "00448897" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450489" "00448898" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450490" "00448899" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450491" "00448900" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450492" "00448901" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450493" "00448902" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450494" "00448903" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450495" "00448904" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450496" "00448905" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450497" "00448906" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450498" "00448907" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450499" "00448908" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450500" "00448909" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450501" "00448910" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450502" "00448911" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450503" "00448912" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450504" "00448913" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450505" "00448914" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450506" "00448915" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450507" "00448916" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450508" "00448917" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450509" "00448918" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450510" "00448919" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450511" "00448920" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450512" "00448921" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450513" "00448922" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450514" "00448923" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450515" "00448924" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450516" "00448925" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450517" "00448926" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450518" "00448927" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450519" "00448928" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450520" "00448929" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450521" "00448930" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450522" "00448931" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450523" "00448932" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450524" "00448933" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450525" "00448934" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450526" "00448935" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450527" "00448936" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450528" "00448937" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450529" "00448938" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450530" "00448939" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450531" "00448940" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450532" "00448941" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450533" "00448942" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450534" "00448943" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450535" "00448944" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450536" "00448945" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450537" "00448946" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450538" "00448947" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450539" "00448948" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450540" "00448949" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450541" "00448950" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450542" "00448951" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450543" "00448952" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450544" "00448953" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450545" "00448954" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450546" "00448955" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450547" "00448956" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450548" "00448957" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450549" "00448958" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450550" "00448959" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450551" "00448960" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450552" "00448961" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450553" "00448962" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450554" "00448963" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450555" "00448964" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450556" "00448965" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450557" "00448966" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450558" "00448967" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450559" "00448968" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450560" "00448969" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450561" "00448970" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450562" "00448971" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450563" "00448972" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450564" "00448973" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450565" "00448974" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450566" "00448975" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450567" "00448976" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450568" "00448977" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450569" "00448978" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450570" "00448979" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450571" "00448980" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450572" "00448981" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450573" "00448982" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450574" "00448983" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450575" "00448984" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450576" "00448985" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450577" "00448986" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450578" "00448987" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450579" "00448988" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450580" "00448989" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450581" "00448990" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450582" "00448991" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450583" "00448992" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450584" "00448993" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450585" "00448994" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450586" "00448995" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450587" "00448996" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450588" "00448997" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450589" "00448998" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450590" "00448999" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450591" "00449000" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450592" "00449001" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450593" "00449002" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450594" "00449003" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450595" "00449004" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450596" "00449005" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450597" "00449006" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450598" "00449007" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450599" "00449008" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450600" "00449009" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450601" "00449010" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450602" "00449011" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450603" "00449012" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450604" "00449013" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450605" "00449014" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450606" "00449015" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450607" "00449016" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450608" "00449017" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450609" "00449018" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450610" "00449019" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450611" "00449020" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450612" "00449021" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450613" "00449022" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450614" "00449023" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450615" "00449024" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450616" "00449025" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450617" "00449026" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450618" "00449027" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450619" "00449028" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450620" "00449029" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450621" "00449030" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450622" "00449031" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450623" "00449032" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450624" "00449033" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450625" "00449034" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450626" "00449035" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450627" "00449036" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450628" "00449037" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450629" "00449038" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450630" "00449039" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450631" "00449040" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450632" "00449041" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450633" "00449042" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450634" "00449043" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450635" "00449044" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450636" "00449045" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450637" "00449046" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450638" "00449047" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450639" "00449048" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450640" "00449049" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450641" "00449050" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450642" "00449051" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450643" "00449052" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450644" "00449053" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450645" "00449054" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450646" "00449055" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450647" "00449056" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450648" "00449057" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450649" "00449058" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450650" "00449059" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450651" "00449060" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450652" "00449061" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450653" "00449062" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450654" "00449063" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450655" "00449064" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450656" "00449065" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450657" "00449066" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450658" "00449067" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450659" "00449068" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450660" "00449069" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450661" "00449070" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450662" "00449071" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450663" "00449072" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450664" "00449073" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450665" "00449074" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450666" "00449075" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450667" "00449076" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450668" "00449077" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450669" "00449078" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450670" "00449079" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450671" "00449080" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450672" "00449081" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450673" "00449082" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450674" "00449083" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450675" "00449084" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450676" "00449085" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450677" "00449086" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450678" "00449087" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450679" "00449088" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450680" "00449089" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450681" "00449090" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450682" "00449091" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450683" "00449092" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450684" "00449093" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450685" "00449094" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450686" "00449095" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450687" "00449096" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450688" "00449097" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450689" "00449098" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450690" "00449099" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450691" "00449100" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450692" "00449101" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450693" "00449102" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450694" "00449103" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450695" "00449104" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450696" "00449105" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450697" "00449106" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450698" "00449107" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450699" "00449108" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450700" "00449109" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450701" "00449110" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450702" "00449111" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450703" "00449112" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450704" "00449113" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450705" "00449114" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450706" "00449115" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450707" "00449116" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450708" "00449117" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450709" "00449118" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450710" "00449119" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450711" "00449120" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450712" "00449121" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450713" "00449122" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450714" "00449123" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450715" "00449124" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450716" "00449125" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450717" "00449126" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450718" "00449127" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450719" "00449128" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450720" "00449129" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450721" "00449130" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450722" "00449131" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450723" "00449132" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450724" "00449133" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450725" "00449134" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450726" "00449135" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450727" "00449136" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450728" "00449137" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450729" "00449138" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450730" "00449139" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450731" "00449140" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450732" "00449141" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450733" "00449142" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450734" "00449143" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450735" "00449144" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450736" "00449145" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450737" "00449146" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450738" "00449147" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450739" "00449148" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450740" "00449149" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450741" "00449150" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450742" "00449151" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450743" "00449152" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450744" "00449153" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450745" "00449154" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450746" "00449155" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450747" "00449156" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450748" "00449157" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450749" "00449158" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450750" "00449159" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450751" "00449160" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450752" "00449161" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450753" "00449162" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450754" "00449163" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450755" "00449164" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450756" "00449165" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450757" "00449166" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450758" "00449167" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450759" "00449168" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450760" "00449169" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450761" "00449170" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450762" "00449171" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450763" "00449172" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450764" "00449173" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450765" "00449174" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450766" "00449175" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450767" "00449176" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450768" "00449177" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450769" "00449178" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450770" "00449179" "1" "00006" "00006" 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"2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450804" "00449213" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450805" "00449214" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450806" "00449215" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450807" "00449216" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450808" "00449217" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450809" "00449218" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450810" "00449219" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450811" "00449220" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450812" "00449221" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450813" "00449222" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450814" "00449223" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450815" "00449224" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450816" "00449225" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450817" "00449226" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450818" "00449227" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450819" "00449228" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450820" "00449229" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450821" "00449230" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450822" "00449231" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450823" "00449232" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450824" "00449233" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450825" "00449234" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450826" "00449235" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450827" "00449236" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450828" "00449237" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450829" "00449238" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450830" "00449239" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450831" "00449240" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450832" "00449241" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450833" "00449242" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450834" "00449243" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450835" "00449244" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450836" "00449245" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450837" "00449246" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450838" "00449247" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450839" "00449248" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450840" "00449249" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450934" "00449343" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450935" "00449344" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450936" "00449345" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450937" "00449346" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450938" "00449347" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450939" "00449348" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450940" "00449349" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450941" "00449350" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450942" "00449351" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450943" "00449352" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450944" "00449353" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450945" "00449354" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450946" "00449355" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450947" "00449356" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450948" "00449357" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450949" "00449358" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450950" "00449359" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450951" "00449360" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450952" "00449361" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450953" "00449362" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450954" "00449363" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450955" "00449364" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450956" "00449365" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450957" "00449366" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450958" "00449367" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450959" "00449368" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450960" "00449369" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450961" "00449370" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450962" "00449371" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450963" "00449372" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450964" "00449373" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450965" "00449374" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450966" "00449375" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450967" "00449376" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450968" "00449377" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450969" "00449378" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450970" "00449379" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450971" "00449380" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450972" "00449381" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450973" "00449382" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450974" "00449383" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450975" "00449384" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450976" "00449385" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450977" "00449386" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450978" "00449387" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450979" "00449388" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450980" "00449389" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450981" "00449390" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450982" "00449391" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450983" "00449392" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450984" "00449393" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450985" "00449394" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450986" "00449395" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450987" "00449396" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450988" "00449397" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450989" "00449398" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450990" "00449399" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450991" "00449400" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450992" "00449401" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450993" "00449402" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450994" "00449403" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450995" "00449404" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450996" "00449405" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450997" "00449406" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450998" "00449407" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000450999" "00449408" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451000" "00449409" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451001" "00449410" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451002" "00449411" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451003" "00449412" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451004" "00449413" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451005" "00449414" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451006" "00449415" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451007" "00449416" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451008" "00449417" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451009" "00449418" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451010" "00449419" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451011" "00449420" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451012" "00449421" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451013" "00449422" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451014" "00449423" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451015" "00449424" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451016" "00449425" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451017" "00449426" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451018" "00449427" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451019" "00449428" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451020" "00449429" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451021" "00449430" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451022" "00449431" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451023" "00449432" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451024" "00449433" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451025" "00449434" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451026" "00449435" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451027" "00449436" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451028" "00449437" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451029" "00449438" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451030" "00449439" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451031" "00449440" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451032" "00449441" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451033" "00449442" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451034" "00449443" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451035" "00449444" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451036" "00449445" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451037" "00449446" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451038" "00449447" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451039" "00449448" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451040" "00449449" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451047" "00449456" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451048" "00449457" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451049" "00449458" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451050" "00449459" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451051" "00449460" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451052" "00449461" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451053" "00449462" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451054" "00449463" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451055" "00449464" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451056" "00449465" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451057" "00449466" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451058" "00449467" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451059" "00449468" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451060" "00449469" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451061" "00449470" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451062" "00449471" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451063" "00449472" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451064" "00449473" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451065" "00449474" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451066" "00449475" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451067" "00449476" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451068" "00449477" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451069" "00449478" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451070" "00449479" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451071" "00449480" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451072" "00449481" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451073" "00449482" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451074" "00449483" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451075" "00449484" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451076" "00449485" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451077" "00449486" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451078" "00449487" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451079" "00449488" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451080" "00449489" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451081" "00449490" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451082" "00449491" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451083" "00449492" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451084" "00449493" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451085" "00449494" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451086" "00449495" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451087" "00449496" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451088" "00449497" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451089" "00449498" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451090" "00449499" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451091" "00449500" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451092" "00449501" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451096" "00449505" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451097" "00449506" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451098" "00449507" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451099" "00449508" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451100" "00449509" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451101" "00449510" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451102" "00449511" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451103" "00449512" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451104" "00449513" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451105" "00449514" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451106" "00449515" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451107" "00449516" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451108" "00449517" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451109" "00449518" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451110" "00449519" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451111" "00449520" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451112" "00449521" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451113" "00449522" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451114" "00449523" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451115" "00449524" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451116" "00449525" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451117" "00449526" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451118" "00449527" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451119" "00449528" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451120" "00449529" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000451121" "00449530" "1" "00006" "00006" "2024-04-19 16:21:21" "" "" "SEQ" "DNA" "" "" "0000454971" "00453360" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454972" "00453361" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454973" "00453362" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454974" "00453363" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454975" "00453364" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454976" "00453365" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454977" "00453366" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454978" "00453367" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454979" "00453368" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454980" "00453369" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454981" "00453370" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454982" "00453371" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454983" "00453372" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454984" "00453373" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454985" "00453374" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454986" "00453375" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454987" "00453376" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454988" "00453377" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454989" "00453378" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454990" "00453379" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454991" "00453380" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454992" "00453381" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454993" "00453382" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454994" "00453383" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454995" "00453384" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454996" "00453385" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454997" "00453386" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454998" "00453387" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454999" "00453388" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455000" "00453389" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455001" "00453390" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455002" "00453391" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455003" "00453392" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455059" "00453445" "1" "03544" "03544" "2024-08-29 11:45:34" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000455075" "00453461" "1" "03544" "03544" "2024-09-03 07:33:26" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000455364" "00453752" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459797" "00458176" "1" "01164" "01164" "2024-12-06 13:47:05" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000462569" "00460937" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "cord blood" "mRNA splicing analysis on tissue" "0000467238" "00465589" "1" "04614" "04614" "2025-05-21 08:39:47" "" "" "SEQ-NG-I" "DNA" "blood" "Gene Panle" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 982 "{{screeningid}}" "{{geneid}}" "0000017038" "PKD1" "0000017039" "PKD1" "0000017042" "PKD1" "0000017043" "PKD1" "0000017915" "PKD1" "0000017916" "PKD1" "0000017917" "PKD1" "0000017918" "PKD1" "0000017919" "PKD1" "0000017920" "PKD1" "0000017921" "PKD1" "0000017922" "PKD1" "0000017924" "PKD1" "0000017927" "PKD1" "0000017928" "PKD1" "0000017931" 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"0000450808" "PKD1" "0000450809" "PKD1" "0000450810" "PKD1" "0000450811" "PKD1" "0000450812" "PKD1" "0000450813" "PKD1" "0000450814" "PKD1" "0000450815" "PKD1" "0000450816" "PKD1" "0000450817" "PKD1" "0000450818" "PKD1" "0000450819" "PKD1" "0000450820" "PKD1" "0000450821" "PKD1" "0000450822" "PKD1" "0000450823" "PKD1" "0000450824" "PKD1" "0000450825" "PKD1" "0000450826" "PKD1" "0000450827" "PKD1" "0000450828" "PKD1" "0000450829" "PKD1" "0000450830" "PKD1" "0000450831" "PKD1" "0000450832" "PKD1" "0000450833" "PKD1" "0000450834" "PKD1" "0000450835" "PKD1" "0000450836" "PKD1" "0000450837" "PKD1" "0000450838" "PKD1" "0000450839" "PKD1" "0000450840" "PKD1" "0000450934" "PKD1" "0000450935" "PKD1" "0000450936" "PKD1" "0000450937" "PKD1" "0000450938" "PKD1" "0000450939" "PKD1" "0000450940" "PKD1" "0000450941" "PKD1" "0000450942" "PKD1" "0000450943" "PKD1" "0000450944" "PKD1" "0000450945" "PKD1" "0000450946" "PKD1" "0000450947" "PKD1" "0000450948" "PKD1" "0000450949" "PKD1" "0000450950" "PKD1" "0000450951" "PKD1" "0000450952" "PKD1" "0000450953" "PKD1" "0000450954" "PKD1" "0000450955" "PKD1" "0000450956" "PKD1" "0000450957" "PKD1" "0000450958" "PKD1" "0000450959" "PKD1" "0000450960" "PKD1" "0000450961" "PKD1" "0000450962" "PKD1" "0000450963" "PKD1" "0000450964" "PKD1" "0000450965" "PKD1" "0000450966" "PKD1" "0000450967" "PKD1" "0000450968" "PKD1" "0000450969" "PKD1" "0000450970" "PKD1" "0000450971" "PKD1" "0000450972" "PKD1" "0000450973" "PKD1" "0000450974" "PKD1" "0000450975" "PKD1" "0000450976" "PKD1" "0000450977" "PKD1" "0000450978" "PKD1" "0000450979" "PKD1" "0000450980" "PKD1" "0000450981" "PKD1" "0000450982" "PKD1" "0000450983" "PKD1" "0000450984" "PKD1" "0000450985" "PKD1" "0000450986" "PKD1" "0000450987" "PKD1" "0000450988" "PKD1" "0000450989" "PKD1" "0000450990" "PKD1" "0000450991" "PKD1" "0000450992" "PKD1" "0000450993" "PKD1" "0000450994" "PKD1" "0000450995" "PKD1" "0000450996" "PKD1" "0000450997" "PKD1" "0000450998" "PKD1" "0000450999" "PKD1" "0000451000" "PKD1" "0000451001" "PKD1" "0000451002" "PKD1" "0000451003" "PKD1" "0000451004" "PKD1" "0000451005" "PKD1" "0000451006" "PKD1" "0000451007" "PKD1" "0000451008" "PKD1" "0000451009" "PKD1" "0000451010" "PKD1" "0000451011" "PKD1" "0000451012" "PKD1" "0000451013" "PKD1" "0000451014" "PKD1" "0000451015" "PKD1" "0000451016" "PKD1" "0000451017" "PKD1" "0000451018" "PKD1" "0000451019" "PKD1" "0000451020" "PKD1" "0000451021" "PKD1" "0000451022" "PKD1" "0000451023" "PKD1" "0000451024" "PKD1" "0000451025" "PKD1" "0000451026" "PKD1" "0000451027" "PKD1" "0000451028" "PKD1" "0000451029" "PKD1" "0000451030" "PKD1" "0000451031" "PKD1" "0000451032" "PKD1" "0000451033" "PKD1" "0000451034" "PKD1" "0000451035" "PKD1" "0000451036" "PKD1" "0000451037" "PKD1" "0000451038" "PKD1" "0000451039" "PKD1" "0000451040" "PKD1" "0000451047" "PKD1" "0000451048" "PKD1" "0000451049" "PKD1" "0000451050" "PKD1" "0000451051" "PKD1" "0000451052" "PKD1" "0000451053" "PKD1" "0000451054" "PKD1" "0000451055" "PKD1" "0000451056" "PKD1" "0000451057" "PKD1" "0000451058" "PKD1" "0000451059" "PKD1" "0000451060" "PKD1" "0000451061" "PKD1" "0000451062" "PKD1" "0000451063" "PKD1" "0000451064" "PKD1" "0000451065" "PKD1" "0000451066" "PKD1" "0000451067" "PKD1" "0000451068" "PKD1" "0000451069" "PKD1" "0000451070" "PKD1" "0000451071" "PKD1" "0000451072" "PKD1" "0000451073" "PKD1" "0000451074" "PKD1" "0000451075" "PKD1" "0000451076" "PKD1" "0000451077" "PKD1" "0000451078" "PKD1" "0000451079" "PKD1" "0000451080" "PKD1" "0000451081" "PKD1" "0000451082" "PKD1" "0000451083" "PKD1" "0000451084" "PKD1" "0000451085" "PKD1" "0000451086" "PKD1" "0000451087" "PKD1" "0000451088" "PKD1" "0000451089" "PKD1" "0000451090" "PKD1" "0000451091" "PKD1" "0000451092" "PKD1" "0000451096" "PKD1" "0000451097" "PKD1" "0000451098" "PKD1" "0000451099" "PKD1" "0000451100" "PKD1" "0000451101" "PKD1" "0000451102" "PKD1" "0000451103" "PKD1" "0000451104" "PKD1" "0000451105" "PKD1" "0000451106" "PKD1" "0000451107" "PKD1" "0000451108" "PKD1" "0000451109" "PKD1" "0000451110" "PKD1" "0000451111" "PKD1" "0000451112" "PKD1" "0000451113" "PKD1" "0000451114" "PKD1" "0000451115" "PKD1" "0000451116" "PKD1" "0000451117" "PKD1" "0000451118" "PKD1" "0000451119" "PKD1" "0000451120" "PKD1" "0000451121" "PKD1" "0000459797" "PKD1" "0000462569" "PKD1" "0000467238" "P2RX1" "0000467238" "PKD1" "0000467238" "PKD2" "0000467238" "PKHD1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 6177 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000037007" "11" "90" "16" "2152492" "2152492" "del" "0" "00006" "PKD1_000542" "g.2152492del" "" "{PMID:Peral 1997:09199561}" "" "9299delC" "" "Germline" "yes" "" "0" "" "" "g.2102491del" "" "pathogenic" "" "0000037008" "1" "90" "16" "2152525" "2152525" "subst" "0" "00006" "PKD1_000018" "g.2152525C>A" "" "{PMID:Peral 1997:09199561}" "" "9269G>T" "" "Germline" "yes" "" "0" "" "" "g.2102524C>A" "" "pathogenic" "" "0000037472" "1" "90" "16" "2140674" "2140674" "subst" "0" "00006" "PKD1_000013" "g.2140674C>G" "" "{PMID:Peral 1997:09199561}, EPDKC 1994" "" "12346+1G>C" "" "Unknown" "?" "" "0" "" "" "g.2090673C>G" "" "pathogenic" "" "0000037473" "1" "90" "16" "2142480" "2142480" "subst" "0" "00006" "PKD1_000014" "g.2142480C>G" "" "{PMID:Peral 1997:09199561}" "" "11477+1G>C" "" "Unknown" "?" "" "0" "" "" "g.2092479C>G" "" "pathogenic" "" "0000038360" "2" "50" "16" "2140294" "2140294" "subst" "0.0045433" "00006" "PKD1_000530" "g.2140294C>T" "" "" "" "" "variant marked as interesting (probably affects the function of the gene with phenotypic consequences) from an exome analysis. Please contact me." "Unknown" "" "" "1" "" "" "g.2090293C>T" "" "VUS" "" "0000038361" "2" "30" "16" "2141777" "2141779" "dup" "0" "00006" "PKD1_000531" "g.2141777_2141779dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2091776_2091778dup" "" "likely benign" "" "0000038362" "11" "90" "16" "2140674" "2140674" "subst" "0" "00006" "PKD1_000001" "g.2140674C>G" "" "{PMID:European PKD Consortium 1994:08004675}, {OMIM601313:0001}" "" "IVS at 3831 +1G>C" "" "Germline" "yes" "" "0" "" "" "g.2090673C>G" "" "pathogenic" "" "0000038363" "10" "90" "16" "2147148" "2147986" "" "0" "00006" "PKD1_000002" "g.(2144212_2147148)_(2147986_2149644)del" "" "{PMID:European PKD Consortium 1994:08004675}" "" "RNA 1746_2192del" "2 kb deletion; no paternal DNA available, indirect evidence for de novo appearance" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000038364" "1" "90" "16" "2140689" "2140689" "subst" "0" "00006" "PKD1_000003" "g.2140689G>A" "" "{PMID:Turco 1995:07581371}, {OMIM601313:0002}" "MspA1I-" "C3817T" "" "Germline" "yes" "" "0" "" "" "g.2090688G>A" "" "pathogenic" "" "0000038365" "1" "99" "16" "2139958" "2139958" "subst" "0" "00006" "PKD1_000004" "g.2139958G>A" "" "{PMID:Peral 1996:8554072}" "" "12890C>T" "" "Germline" "yes" "" "0" "" "" "g.2089957G>A" "" "pathogenic" "" "0000038366" "1" "99" "16" "2141807" "2141807" "subst" "0" "00006" "PKD1_000005" "g.2141807G>A" "" "{PMID:Peral 1996:08554072}" "" "11720C>T" "" "Germline" "yes" "" "0" "" "" "g.2091806G>A" "" "pathogenic" "" "0000038367" "1" "99" "16" "2142494" "2142508" "del" "0" "00006" "PKD1_000006" "g.2142494_2142508del" "" "{PMID:Peral 1996:08554072}" "" "11457del15" "" "Germline" "yes" "" "0" "" "" "g.2092493_2092507del" "" "pathogenic" "" "0000038368" "1" "99" "16" "2143665" "2143665" "subst" "0" "00006" "PKD1_000007" "g.2143665C>G" "" "{PMID:Peral 1996:08554072}" "" "11104G>C" "" "Germline" "yes" "" "0" "" "" "g.2093664C>G" "" "pathogenic" "" "0000038369" "1" "99" "16" "2143895" "2143895" "dup" "0" "00006" "PKD1_000008" "g.2143895dup" "" "{PMID:Peral 1996:08554072}" "" "ins T after 10947" "" "Germline" "yes" "" "0" "" "" "g.2093894dup" "" "pathogenic" "" "0000038371" "11" "90" "16" "2141862" "2141862" "subst" "0" "00006" "PKD1_000010" "g.2141862G>T" "" "{PMID:Peral 1996:08845849}" "" "11665C>A" "de novo in father, inherited by twin son" "De novo" "yes" "" "0" "" "" "g.2091861G>T" "" "pathogenic" "" "0000038374" "1" "90" "16" "2144171" "2144171" "subst" "0" "00006" "PKD1_000015" "g.2144171G>A" "" "{PMID:Peral 1997:09199561}" "" "10748C>T" "" "Unknown" "?" "" "0" "" "" "g.2094170G>A" "" "pathogenic" "" "0000038375" "1" "90" "16" "2144180" "2144180" "subst" "0.00130126" "00006" "PKD1_000016" "g.2144180G>C" "" "{PMID:Peral 1997:09199561}" "" "10739C>G" "" "Germline" "yes" "" "0" "" "" "g.2094179G>C" "" "pathogenic" "" "0000038378" "1" "90" "16" "2152536" "2152536" "subst" "0" "00006" "PKD1_000019" "g.2152536T>C" "" "{PMID:Peral 1997:09199561}" "" "9258A>G" "" "Unknown" "?" "" "0" "" "" "g.2102535T>C" "" "pathogenic" "" "0000038379" "1" "90" "16" "2152605" "2152605" "subst" "0" "00006" "PKD1_000020" "g.2152605A>G" "" "{PMID:Peral 1997:09199561}" "" "9189T>C" "" "Unknown" "?" "" "0" "" "" "g.2102604A>G" "" "pathogenic" "" "0000038380" "1" "90" "16" "2153614" "2153614" "del" "0" "00006" "PKD1_000021" "g.2153614del" "" "{PMID:Peral 1997:09199561}" "" "8657delC" "" "Unknown" "?" "" "0" "" "" "g.2103613del" "" "pathogenic" "" "0000038384" "1" "50" "16" "2152561" "2152561" "subst" "0" "00006" "PKD1_000026" "g.2152561C>G" "" "{PMID:Watnick 1997:09285784}" "" "G9233C" "not in 100 control chromosomes" "Germline" "yes" "" "0" "" "" "g.2102560C>G" "" "VUS" "" "0000038385" "1" "10" "16" "2153779" "2153779" "subst" "0" "00006" "PKD1_000032" "g.2153779A>G" "" "{PMID:Watnick 1997:09285784}" "" "[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] T8490C" "gene conversion ex23; pathogenic allele" "Germline" "?" "" "0" "" "" "g.2103778A>G" "" "benign" "" "0000038386" "1" "50" "16" "2153686" "2153686" "subst" "0.000128868" "00006" "PKD1_000028" "g.2153686C>T" "" "{PMID:Watnick 1997:09285784}" "" "G8583A" "" "Unknown" "?" "" "0" "" "" "g.2103685C>T" "" "VUS" "" "0000038390" "1" "10" "16" "2153779" "2153779" "subst" "0" "00006" "PKD1_000032" "g.2153779A>G" "" "{PMID:Watnick 1997:09285784}" "" "8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] T8490C" "gene conversion ex23; pathogenic allele" "Germline" "yes" "" "0" "" "" "g.2103778A>G" "" "benign" "" "0000038391" "1" "90" "16" "2140777" "2140777" "subst" "0" "00006" "PKD1_000033" "g.2140777C>T" "" "{PMID:Roelfsema 1997:09345095}" "AvaII-;Sau3A1+" "" "" "Germline" "yes" "" "0" "" "" "g.2090776C>T" "" "pathogenic" "" "0000038392" "1" "90" "16" "2153360" "2153360" "subst" "0" "00006" "PKD1_000034" "g.2153360G>A" "" "{PMID:Roelfsema 1997:09345095}" "" "8692C>T" "erroneous description, see Fig.4" "Unknown" "?" "" "0" "" "" "g.2103359G>A" "" "pathogenic" "" "0000038393" "1" "90" "16" "2158588" "2158594" "del" "0" "00006" "PKD1_000035" "g.2158588_2158594del" "" "{PMID:Roelfsema 1997:09345095}" "" "" "" "Unknown" "?" "" "0" "" "" "g.2108587_2108593del" "" "pathogenic" "" "0000038394" "1" "90" "16" "2159546" "2159546" "subst" "0" "00006" "PKD1_000036" "g.2159546C>T" "" "{PMID:Roelfsema 1997:09345095}" "" "" "" "Unknown" "?" "" "0" "" "" "g.2109545C>T" "" "pathogenic" "" "0000038395" "1" "90" "16" "2160154" "2160154" "del" "0" "00006" "PKD1_000037" "g.2160154del" "" "{PMID:Roelfsema 1997:09345095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110153del" "" "pathogenic" "" "0000038396" "1" "90" "16" "2161131" "2161132" "del" "0" "00006" "PKD1_000038" "g.2161131_2161132del" "" "{PMID:Roelfsema 1997:09345095}" "" "4036/4042delCA" "" "Germline" "yes" "" "0" "" "" "g.2111130_2111131del" "" "pathogenic" "" "0000038397" "1" "90" "16" "2161302" "2161302" "del" "0" "00006" "PKD1_000039" "g.2161302del" "" "{PMID:Roelfsema 1997:09345095}" "BglII+" "" "" "Germline" "yes" "" "0" "" "" "g.2111301del" "" "pathogenic" "" "0000038473" "1" "90" "16" "2157943" "2157943" "subst" "0" "00006" "PKD1_000123" "g.2157943A>C" "" "{PMID:Rossetti 2001:11115377}" "RsaI" "" "" "Unknown" "yes" "" "0" "" "" "g.2107942A>C" "" "pathogenic" "" "0000038492" "1" "90" "16" "2168789" "2168789" "subst" "0" "00006" "PKD1_000144" "g.2168789C>A" "" "{PMID:Rossetti 2001:11115377}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.2118788C>A" "" "pathogenic" "" "0000038493" "1" "90" "16" "2169371" "2169371" "subst" "0" "00006" "PKD1_000146" "g.2169371G>A" "" "{PMID:Rossetti 2001:11115377}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.2119370G>A" "" "pathogenic" "" "0000038494" "1" "70" "16" "2185653" "2185653" "subst" "0" "00006" "PKD1_000147" "g.2185653A>T" "" "{PMID:Rossetti 2001:11115377}" "" "" "not in 98 control chromosomes" "Germline" "?" "" "0" "" "" "g.2135652A>T" "" "likely pathogenic" "" "0000038495" "1" "90" "16" "2185675" "2185687" "del" "0" "00006" "PKD1_000148" "g.2185675_2185687del" "" "{PMID:Rossetti 2001:11115377}" "" "" "" "Germline" "?" "" "0" "" "" "g.2135674_2135686del" "" "pathogenic" "" "0000038745" "1" "90" "16" "2166089" "2166089" "subst" "0" "00006" "PKD1_000420" "g.2166089G>A" "" "{PMID:Tsukamoto 2008:18175055}" "" "Arg585Cys" "" "Germline" "yes" "" "0" "" "" "g.2116088G>A" "" "pathogenic" "" "0000038842" "3" "77" "16" "2140385" "2140385" "subst" "0" "00705" "PKD1_000533" "g.2140385T>C" "" "{PMID:Rossetti 1996:8911610}" "" "c.12341A>G" "" "Germline" "yes" "" "0" "" "" "g.2090384T>C" "" "likely pathogenic" "" "0000038843" "0" "77" "16" "2140349" "2140349" "subst" "7.04126E-5" "00705" "PKD1_000534" "g.2140349G>A" "" "{PMID:Rossetti 1996:8911610}" "" "c.12384C>T" "" "Germline" "yes" "" "0" "" "" "g.2090348G>A" "" "likely pathogenic" "" "0000038879" "1" "10" "16" "2153823" "2153823" "subst" "0.000201257" "00006" "PKD1_000535" "g.2153823A>C" "" "{PMID:Watnick 1997:09285784}" "" "[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] T8446G" "gene conversion ex23; pathogenic allele" "Germline" "?" "" "0" "" "" "g.2103822A>C" "" "benign" "" "0000038880" "1" "30" "16" "2153776" "2153776" "subst" "0" "00006" "PKD1_000031" "g.2153776C>G" "" "{PMID:Watnick 1997:09285784}" "" "[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] G8493C" "gene conversion ex23; pathogenic allele" "Germline" "?" "" "0" "" "" "g.2103775C>G" "" "likely benign" "" "0000038881" "1" "50" "16" "2153771" "2153771" "subst" "0" "00006" "PKD1_000030" "g.2153771G>C" "" "{PMID:Watnick 1997:09285784}" "" "[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] C8498G" "gene conversion ex23; pathogenic allele" "Germline" "?" "" "0" "" "" "g.2103770G>C" "" "VUS" "" "0000038882" "1" "10" "16" "2153767" "2153767" "subst" "0" "00006" "PKD1_000029" "g.2153767A>G" "" "{PMID:Watnick 1997:09285784}" "" "[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C] T8502C" "gene conversion ex23; pathogenic allele" "Germline" "?" "" "0" "" "" "g.2103766A>G" "" "likely benign" "" "0000038883" "1" "10" "16" "2153823" "2153823" "subst" "0.000201257" "00006" "PKD1_000535" "g.2153823A>C" "" "{PMID:Watnick 1997:09285784}" "" "8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] T8446G" "gene conversion ex23; pathogenic allele" "Germline" "yes" "" "0" "" "" "g.2103822A>C" "" "benign" "" "0000038884" "1" "30" "16" "2153776" "2153776" "subst" "0" "00006" "PKD1_000031" "g.2153776C>G" "" "{PMID:Watnick 1997:09285784}" "" "8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] G8493C" "gene conversion ex23; pathogenic allele" "Germline" "yes" "" "0" "" "" "g.2103775C>G" "" "likely benign" "" "0000038885" "1" "30" "16" "2153767" "2153767" "subst" "0" "00006" "PKD1_000029" "g.2153767A>G" "" "{PMID:Watnick 1997:09285784}" "" "8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] T8502C" "gene conversion ex23; pathogenic allele" "Germline" "yes" "" "0" "" "" "g.2103766A>G" "" "likely benign" "" "0000038886" "1" "30" "16" "2153581" "2153581" "subst" "0" "00006" "PKD1_000536" "g.2153581A>G" "" "{PMID:Watnick 1997:09285784}" "" "[8235T>G;8279T>C;8282G>C;8291T>C;8477T>C] T8688C" "gene conversion ex23; pathogenic allele" "Germline" "yes" "" "0" "" "" "g.2103580A>G" "" "likely benign" "" "0000038887" "1" "10" "16" "2152850" "2152850" "subst" "0.0076062" "00006" "PKD1_000537" "g.2152850A>G" "" "{PMID:Watnick 1997:09285784}" "" "T9124C" "not in control chromosomes" "Unknown" "?" "" "0" "" "" "g.2102849A>G" "" "benign" "" "0000038888" "1" "10" "16" "2152801" "2152801" "subst" "0" "00006" "PKD1_000538" "g.2152801C>T" "" "{PMID:Watnick 1997:09285784}" "" "A38794G" "not in incontrol chromosomes" "Unknown" "?" "" "0" "" "" "g.2102800C>T" "" "benign" "" "0000038889" "2" "10" "16" "2152387" "2152388" "delins" "0" "00006" "PKD1_000539" "g.2152387_2152388delinsGG" "" "{PMID:Watnick 1997:09285784}" "" "G9406C, T9407C (F3064L)" "variant found in controls" "Germline" "no" "" "0" "" "" "g.2102386_2102387delinsGG" "" "benign" "" "0000058532" "1" "50" "16" "2149763" "2149763" "subst" "1.42003E-5" "00006" "PKD1_000543" "g.2149763T>C" "" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "" "10141A>G (His3311Arg)" "" "Unknown" "" "" "0" "" "" "g.2099762T>C" "" "VUS" "" "0000075212" "0" "50" "16" "2167885" "2167885" "subst" "0" "00006" "PKD1_000544" "g.2167885C>T" "" "{PMID:Rossetti 2007:17582161}" "" "" "" "Unknown" "" "" "0" "" "" "g.2117884C>T" "" "VUS" "" "0000079035" "1" "99" "16" "2140209" "2140233" "del" "0" "00753" "PKD1_000545" "g.2140209_2140233del" "" "" "" "IVS45+56del25" "intronic deletion activates a cryptic 3\' splice site in exon 46" "Germline" "?" "" "0" "" "" "g.2090208_2090232del" "" "pathogenic" "" "0000079036" "0" "30" "16" "2160920" "2160920" "subst" "9.81434E-5" "00753" "PKD1_000546" "g.2160920A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110919A>G" "" "likely benign" "" "0000089494" "1" "99" "16" "2140209" "2140233" "del" "0" "00753" "PKD1_000545" "g.2140209_2140233del" "" "" "" "IVS45+56del25" "" "Germline" "?" "" "0" "" "" "g.2090208_2090232del" "" "pathogenic" "" "0000089495" "20" "70" "16" "2142192" "2142192" "subst" "0" "00753" "PKD1_000589" "g.2142192G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2092191G>T" "" "likely pathogenic" "" "0000089496" "0" "70" "16" "2168298" "2168298" "subst" "0" "00753" "PKD1_000697" "g.2168298C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2118297C>G" "" "likely pathogenic" "" "0000089497" "10" "99" "16" "2158744" "2158744" "subst" "0" "00753" "PKD1_000634" "g.2158744G>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2108743G>A" "" "pathogenic" "" "0000089498" "0" "99" "16" "2152544" "2152548" "dup" "0" "00753" "PKD1_000558" "g.2152544_2152548dup" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.2102543_2102547dup" "" "pathogenic" "" "0000089499" "0" "99" "16" "2158624" "2158624" "subst" "0" "00753" "PKD1_000631" "g.2158624G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108623G>A" "" "pathogenic" "" "0000089500" "0" "99" "16" "2158624" "2158624" "subst" "0" "00753" "PKD1_000631" "g.2158624G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108623G>A" "" "pathogenic" "" "0000089501" "0" "50" "16" "2162416" "2162416" "subst" "0" "00753" "PKD1_000671" "g.2162416A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2112415A>T" "" "VUS" "" "0000089502" "10" "99" "16" "2167994" "2167994" "del" "0" "00753" "PKD1_000693" "g.2167994del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2117993del" "" "pathogenic" "" "0000089503" "0" "30" "16" "2160311" "2160311" "subst" "3.6735E-5" "00753" "PKD1_000657" "g.2160311G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110310G>A" "" "likely benign" "" "0000089504" "10" "70" "16" "2159031" "2159031" "subst" "0" "00753" "PKD1_000642" "g.2159031A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2109030A>G" "" "likely pathogenic" "" "0000089505" "20" "70" "16" "2153765" "2153765" "subst" "0.00456926" "00753" "PKD1_000442" "g.2153765G>A" "" "" "" "" "reported in PKDB" "Germline" "?" "" "0" "" "" "g.2103764G>A" "" "likely pathogenic" "" "0000089506" "0" "30" "16" "2155887" "2155887" "subst" "0" "00753" "PKD1_000604" "g.2155887G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2105886G>T" "" "likely benign" "" "0000089507" "0" "50" "16" "2152548" "2152548" "subst" "0.000139456" "00753" "PKD1_000559" "g.2152548G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2102547G>A" "" "VUS" "" "0000089508" "0" "99" "16" "2159691" "2159691" "subst" "0" "00753" "PKD1_000652" "g.2159691C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2109690C>T" "" "pathogenic" "" "0000089512" "10" "70" "16" "2156588" "2156588" "subst" "0" "00753" "PKD1_000478" "g.2156588G>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2106587G>A" "" "likely pathogenic" "" "0000089513" "21" "70" "16" "2156588" "2156588" "subst" "0" "00753" "PKD1_000478" "g.2156588G>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2106587G>A" "" "likely pathogenic" "" "0000089514" "0" "70" "16" "2149956" "2149956" "subst" "0.000155417" "00753" "PKD1_000439" "g.2149956G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2099955G>A" "" "likely pathogenic" "" "0000089515" "0" "99" "16" "2168814" "2168815" "del" "0" "00753" "PKD1_000701" "g.2168814_2168815del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2118813_2118814del" "" "pathogenic" "" "0000089516" "0" "70" "16" "2150561" "2150561" "subst" "0" "00753" "PKD1_000627" "g.2150561G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2100560G>A" "" "likely pathogenic" "" "0000089518" "0" "30" "16" "2156220" "2156220" "subst" "0.000386023" "00753" "PKD1_000609" "g.2156220G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2106219G>A" "" "likely benign" "" "0000089519" "20" "50" "16" "2150466" "2150466" "subst" "0.000991262" "00753" "PKD1_000190" "g.2150466T>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2100465T>A" "" "VUS" "" "0000089520" "10" "50" "16" "2150466" "2150466" "subst" "0.000991262" "00753" "PKD1_000190" "g.2150466T>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2100465T>A" "" "VUS" "" "0000089521" "0" "99" "16" "2140689" "2140689" "subst" "0" "00753" "PKD1_000003" "g.2140689G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2090688G>A" "" "pathogenic" "" "0000089522" "20" "50" "16" "2185497" "2185497" "subst" "0" "00753" "PKD1_000707" "g.2185497A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2135496A>T" "" "VUS" "" "0000089523" "10" "70" "16" "2153779" "2153779" "subst" "0" "00753" "PKD1_000579" "g.2153779A>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2103778A>C" "" "likely pathogenic" "" "0000089524" "0" "70" "16" "2169371" "2169371" "subst" "0" "00753" "PKD1_000146" "g.2169371G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2119370G>A" "" "likely pathogenic" "" "0000089525" "10" "30" "16" "2153694" "2153694" "subst" "0.00105915" "00753" "PKD1_000570" "g.2153694C>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2103693C>T" "" "likely benign" "" "0000089526" "0" "30" "16" "2159507" "2159507" "subst" "5.03132E-5" "00753" "PKD1_000650" "g.2159507G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2109506G>A" "" "likely benign" "" "0000089527" "0" "50" "16" "2164388" "2164388" "subst" "0" "00753" "PKD1_000682" "g.2164388G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2114387G>C" "" "VUS" "" "0000089528" "0" "99" "16" "2154565" "2154565" "subst" "0" "00753" "PKD1_000433" "g.2154565G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2104564G>A" "" "pathogenic" "" "0000089529" "0" "99" "16" "2163264" "2163264" "del" "0" "00753" "PKD1_000677" "g.2163264del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2113263del" "" "pathogenic" "" "0000089530" "0" "99" "16" "2158861" "2158861" "subst" "0" "00753" "PKD1_000638" "g.2158861G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108860G>A" "" "pathogenic" "" "0000089531" "1" "50" "16" "2185497" "2185497" "subst" "0" "00753" "PKD1_000707" "g.2185497A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2135496A>T" "" "VUS" "" "0000089532" "0" "50" "16" "2158419" "2158419" "subst" "0.00234517" "00753" "PKD1_000079" "g.2158419G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108418G>A" "" "VUS" "" "0000089533" "0" "50" "16" "2161744" "2161744" "subst" "0.00320048" "00753" "PKD1_000668" "g.2161744G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2111743G>A" "" "VUS" "" "0000089534" "0" "30" "16" "2167978" "2167978" "subst" "0" "00753" "PKD1_000692" "g.2167978G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2117977G>A" "" "likely benign" "" "0000089535" "0" "30" "16" "2168744" "2168744" "subst" "0.000197227" "00753" "PKD1_000699" "g.2168744C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2118743C>T" "" "likely benign" "" "0000089536" "0" "99" "16" "2167682" "2167682" "subst" "0" "00753" "PKD1_000691" "g.2167682C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2117681C>T" "" "pathogenic" "" "0000089537" "0" "99" "16" "2152218" "2152219" "del" "0" "00753" "PKD1_000556" "g.2152218_2152219del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2102217_2102218del" "" "pathogenic" "" "0000089538" "21" "70" "16" "2150406" "2150408" "del" "0" "00753" "PKD1_000620" "g.2150406_2150408del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2100405_2100407del" "" "likely pathogenic" "" "0000089539" "1" "70" "16" "2150406" "2150408" "del" "0" "00753" "PKD1_000620" "g.2150406_2150408del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2100405_2100407del" "" "likely pathogenic" "" "0000089540" "0" "99" "16" "2158624" "2158624" "subst" "0" "00753" "PKD1_000631" "g.2158624G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108623G>A" "" "pathogenic" "" "0000089541" "10" "99" "16" "2155424" "2155424" "subst" "0" "00753" "PKD1_000074" "g.2155424G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2105423G>A" "" "pathogenic" "" "0000089542" "0" "99" "16" "2143598" "2143598" "del" "0" "00753" "PKD1_000595" "g.2143598del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2093597del" "" "pathogenic" "" "0000089543" "0" "99" "16" "2158624" "2158624" "subst" "0" "00753" "PKD1_000631" "g.2158624G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108623G>A" "" "pathogenic" "" "0000089544" "10" "30" "16" "2160920" "2160920" "subst" "9.81434E-5" "00753" "PKD1_000546" "g.2160920A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2110919A>G" "" "likely benign" "" "0000089545" "0" "50" "16" "2152548" "2152548" "subst" "0.000139456" "00753" "PKD1_000559" "g.2152548G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2102547G>A" "" "VUS" "" "0000089546" "0" "99" "16" "2159657" "2159657" "subst" "0" "00753" "PKD1_000200" "g.2159657C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2109656C>T" "" "pathogenic" "" "0000089547" "1" "30" "16" "2153694" "2153694" "subst" "0.00105915" "00753" "PKD1_000570" "g.2153694C>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2103693C>T" "" "likely benign" "" "0000089548" "10" "99" "16" "2160799" "2160800" "del" "0" "00753" "PKD1_000661" "g.2160799_2160800del" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2110798_2110799del" "" "pathogenic" "" "0000089549" "21" "99" "16" "2160799" "2160800" "del" "0" "00753" "PKD1_000661" "g.2160799_2160800del" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2110798_2110799del" "" "pathogenic" "" "0000089550" "1" "99" "16" "2150013" "2150016" "del" "0" "00753" "PKD1_000616" "g.2150013_2150016del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2100012_2100015del" "" "pathogenic" "" "0000089551" "0" "70" "16" "2152098" "2152098" "subst" "0" "00753" "PKD1_000555" "g.2152098C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2102097C>T" "" "likely pathogenic" "" "0000089552" "10" "99" "16" "2141504" "2141529" "del" "0" "00753" "PKD1_000573" "g.2141504_2141529del" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2091503_2091528del" "" "pathogenic" "" "0000089553" "21" "50" "16" "2164677" "2164677" "subst" "0" "00753" "PKD1_000684" "g.2164677C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114676C>T" "" "VUS" "" "0000089554" "0" "50" "16" "2164677" "2164677" "subst" "0" "00753" "PKD1_000684" "g.2164677C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114676C>T" "" "VUS" "" "0000089555" "0" "50" "16" "2164677" "2164677" "subst" "0" "00753" "PKD1_000684" "g.2164677C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114676C>T" "" "VUS" "" "0000089556" "0" "50" "16" "2160312" "2160312" "subst" "0.000616296" "00753" "PKD1_000658" "g.2160312G>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2110311G>A" "" "VUS" "" "0000089557" "21" "50" "16" "2160312" "2160312" "subst" "0.000616296" "00753" "PKD1_000658" "g.2160312G>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2110311G>A" "" "VUS" "" "0000089558" "21" "99" "16" "2140704" "2140704" "dup" "0" "00753" "PKD1_000563" "g.2140704dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090703dup" "" "pathogenic" "" "0000089559" "0" "99" "16" "2140704" "2140704" "dup" "0" "00753" "PKD1_000563" "g.2140704dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090703dup" "" "pathogenic" "" "0000089560" "0" "30" "16" "2160716" "2160716" "subst" "0.000784284" "00753" "PKD1_000660" "g.2160716C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2110715C>T" "" "likely benign" "" "0000089561" "10" "30" "16" "2140294" "2140294" "subst" "0.0045433" "00753" "PKD1_000530" "g.2140294C>T" "" "" "" "" "" "Germline" "" "rs148478410" "0" "" "" "g.2090293C>T" "" "likely benign" "" "0000089562" "0" "70" "16" "2140342" "2140344" "del" "0" "00753" "PKD1_000560" "g.2140342_2140344del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2090341_2090343del" "" "likely pathogenic" "" "0000089563" "0" "30" "16" "2153909" "2153909" "subst" "0.000107397" "00753" "PKD1_000580" "g.2153909G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2103908G>A" "" "likely benign" "" "0000089564" "10" "99" "16" "2158744" "2158744" "subst" "0" "00753" "PKD1_000634" "g.2158744G>A" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2108743G>A" "" "pathogenic" "" "0000089565" "0" "99" "16" "2160153" "2160154" "del" "0" "00753" "PKD1_000656" "g.2160153_2160154del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic" "" "0000089566" "20" "30" "16" "2150422" "2150422" "subst" "0" "00753" "PKD1_000622" "g.2150422C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2100421C>T" "" "likely benign" "" "0000089567" "11" "99" "16" "2161486" "2161503" "del" "0" "00753" "PKD1_000666" "g.2161486_2161503del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111485_2111502del" "" "pathogenic" "" "0000089568" "0" "99" "16" "2168254" "2168254" "subst" "0" "00753" "PKD1_000696" "g.2168254C>T" "" "" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.2118253C>T" "" "pathogenic" "" "0000089569" "20" "50" "16" "2164292" "2164292" "subst" "0" "00753" "PKD1_000680" "g.2164292A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2114291A>T" "" "VUS" "" "0000089570" "0" "50" "16" "2169327" "2169327" "subst" "6.90046E-5" "00753" "PKD1_000704" "g.2169327G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2119326G>A" "" "VUS" "" "0000089571" "20" "70" "16" "2167569" "2167569" "subst" "0" "00753" "PKD1_000497" "g.2167569A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2117568A>G" "" "likely pathogenic" "" "0000089572" "0" "70" "16" "2167569" "2167569" "subst" "0" "00753" "PKD1_000497" "g.2167569A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2117568A>G" "" "likely pathogenic" "" "0000089573" "0" "30" "16" "2155313" "2155313" "del" "0" "00753" "PKD1_000599" "g.2155313del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2105312del" "" "likely benign" "" "0000089574" "0" "99" "16" "2160153" "2160154" "del" "0" "00753" "PKD1_000656" "g.2160153_2160154del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic" "" "0000089575" "0" "50" "16" "2141028" "2141028" "subst" "0" "00753" "PKD1_000250" "g.2141028C>G" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2091027C>G" "" "VUS" "" "0000089576" "0" "30" "16" "2164186" "2164186" "subst" "0" "00753" "PKD1_000679" "g.2164186C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2114185C>T" "" "likely benign" "" "0000089577" "1" "30" "16" "2142071" "2142071" "subst" "0.000257639" "00753" "PKD1_000584" "g.2142071G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2092070G>C" "" "likely benign" "" "0000089578" "0" "70" "16" "2158764" "2158764" "subst" "3.38203E-5" "00753" "PKD1_000635" "g.2158764G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108763G>A" "" "likely pathogenic" "" "0000089579" "0" "30" "16" "2159189" "2159189" "subst" "0.00028342" "00753" "PKD1_000644" "g.2159189T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2109188T>C" "" "likely benign" "" "0000089580" "20" "99" "16" "2169133" "2169136" "del" "0" "00753" "PKD1_000702" "g.2169133_2169136del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2119132_2119135del" "" "pathogenic" "" "0000089582" "0" "99" "16" "2150396" "2150396" "subst" "0" "00753" "PKD1_000619" "g.2150396C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2100395C>T" "" "pathogenic" "" "0000089584" "20" "99" "16" "2153741" "2153741" "del" "0" "00753" "PKD1_000192" "g.2153741del" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2103740del" "" "pathogenic" "" "0000089585" "0" "50" "16" "2156159" "2156159" "subst" "0.00164739" "00753" "PKD1_000476" "g.2156159G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2106158G>A" "" "VUS" "" "0000089586" "0" "30" "16" "2185449" "2185449" "subst" "0" "00753" "PKD1_000706" "g.2185449C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2135448C>T" "" "likely benign" "" "0000089587" "0" "30" "16" "2152048" "2152048" "subst" "7.15676E-5" "00753" "PKD1_000553" "g.2152048G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2102047G>A" "" "likely benign" "" "0000089588" "0" "50" "16" "2143546" "2143546" "subst" "0.000429801" "00753" "PKD1_000594" "g.2143546C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2093545C>T" "" "VUS" "" "0000089589" "1" "70" "16" "2142069" "2142069" "subst" "0" "00753" "PKD1_000577" "g.2142069T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092068T>C" "" "likely pathogenic" "" "0000089590" "11" "70" "16" "2142069" "2142069" "subst" "0" "00753" "PKD1_000577" "g.2142069T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092068T>C" "" "likely pathogenic" "" "0000089591" "11" "70" "16" "2142069" "2142069" "subst" "0" "00753" "PKD1_000577" "g.2142069T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092068T>C" "" "likely pathogenic" "" "0000089592" "0" "50" "16" "2152395" "2152395" "subst" "4.50242E-5" "00753" "PKD1_000557" "g.2152395C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2102394C>T" "" "VUS" "" "0000089595" "1" "50" "16" "2141018" "2141018" "subst" "0.000614917" "00753" "PKD1_000567" "g.2141018C>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2091017C>T" "" "VUS" "" "0000089596" "1" "50" "16" "2154549" "2154549" "subst" "0.00142352" "00753" "PKD1_000588" "g.2154549G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2104548G>A" "" "VUS" "" "0000089597" "1" "50" "16" "2150459" "2150459" "subst" "0.00061188" "00753" "PKD1_000623" "g.2150459C>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2100458C>T" "" "VUS" "" "0000089598" "20" "99" "16" "2168761" "2168761" "subst" "0" "00753" "PKD1_000700" "g.2168761G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2118760G>A" "" "pathogenic" "" "0000089599" "1" "99" "16" "2168165" "2168166" "ins" "0" "00753" "PKD1_000695" "g.2168165_2168166insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2118164_2118165insC" "" "pathogenic" "" "0000089600" "21" "99" "16" "2168165" "2168166" "ins" "0" "00753" "PKD1_000695" "g.2168165_2168166insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2118164_2118165insC" "" "pathogenic" "" "0000089603" "20" "99" "16" "2150185" "2150185" "subst" "0" "00753" "PKD1_000618" "g.2150185T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2100184T>A" "" "pathogenic" "" "0000089604" "0" "99" "16" "2150184" "2150210" "del" "0" "00753" "PKD1_000617" "g.2150184_2150210del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2100183_2100209del" "" "pathogenic" "" "0000089605" "10" "70" "16" "2162376" "2162376" "subst" "0" "00753" "PKD1_000670" "g.2162376A>C" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2112375A>C" "" "likely pathogenic" "" "0000089606" "0" "99" "16" "2158042" "2158042" "subst" "0" "00753" "PKD1_000622" "g.2158042C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108041C>T" "" "pathogenic" "" "0000089607" "1" "99" "16" "2159383" "2159383" "subst" "0" "00753" "PKD1_000648" "g.2159383C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2109382C>A" "" "pathogenic" "" "0000089608" "21" "99" "16" "2158362" "2158362" "subst" "0" "00753" "PKD1_000177" "g.2158362G>C" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2108361G>C" "" "pathogenic" "" "0000089609" "20" "99" "16" "2140181" "2140182" "del" "0" "00753" "PKD1_000709" "g.2140181_2140182del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2090180_2090181del" "" "pathogenic" "" "0000089610" "0" "70" "16" "2147838" "2147856" "del" "0" "00753" "PKD1_000551" "g.2147838_2147856del" "" "" "" "c.10167+25_+43del19" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2097837_2097855del" "" "likely pathogenic" "" "0000089611" "10" "99" "16" "2157959" "2157965" "del" "0" "00753" "PKD1_000099" "g.2157959_2157965del" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2107958_2107964del" "" "pathogenic" "" "0000089612" "0" "50" "16" "2166834" "2166834" "subst" "0" "00753" "PKD1_000688" "g.2166834C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2116833C>T" "" "VUS" "" "0000089613" "10" "70" "16" "2158525" "2158525" "subst" "8.43697E-6" "00753" "PKD1_000629" "g.2158525G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2108524G>A" "" "likely pathogenic" "" "0000089614" "20" "99" "16" "2166857" "2166857" "dup" "0" "00753" "PKD1_000689" "g.2166857dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2116856dup" "" "pathogenic" "" "0000089615" "10" "99" "16" "2157948" "2157949" "dup" "0" "00753" "PKD1_000620" "g.2157948_2157949dup" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2107947_2107948dup" "" "pathogenic" "" "0000089616" "10" "30" "16" "2162506" "2162506" "subst" "0.000189677" "00753" "PKD1_000672" "g.2162506C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2112505C>T" "" "likely benign" "" "0000089618" "1" "50" "16" "2159272" "2159272" "subst" "3.55003E-5" "00753" "PKD1_000647" "g.2159272C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2109271C>T" "" "VUS" "" "0000089619" "0" "70" "16" "2156617" "2156617" "subst" "0" "00753" "PKD1_000616" "g.2156617G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2106616G>A" "" "likely pathogenic" "" "0000089620" "20" "70" "16" "2152830" "2152832" "del" "0" "00753" "PKD1_000564" "g.2152830_2152832del" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2102829_2102831del" "" "likely pathogenic" "" "0000089621" "21" "70" "16" "2152830" "2152832" "del" "0" "00753" "PKD1_000564" "g.2152830_2152832del" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2102829_2102831del" "" "likely pathogenic" "" "0000089622" "0" "99" "16" "2162883" "2162883" "subst" "0" "00753" "PKD1_000674" "g.2162883G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2112882G>A" "" "pathogenic" "" "0000089623" "0" "99" "16" "2157959" "2157965" "dup" "0" "00753" "PKD1_000621" "g.2157959_2157965dup" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2107958_2107964dup" "" "pathogenic" "" "0000089624" "10" "70" "16" "2164844" "2164844" "subst" "0" "00753" "PKD1_000393" "g.2164844A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic" "" "0000089625" "0" "30" "16" "2158634" "2158634" "subst" "0" "00753" "PKD1_000632" "g.2158634G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108633G>A" "" "likely benign" "" "0000089626" "0" "99" "16" "2142116" "2142116" "subst" "0" "00753" "PKD1_000587" "g.2142116G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2092115G>T" "" "pathogenic" "" "0000089627" "1" "30" "16" "2150464" "2150464" "subst" "0" "00753" "PKD1_000624" "g.2150464G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2100463G>A" "" "likely benign" "" "0000089628" "0" "99" "16" "2159202" "2159203" "del" "0" "00753" "PKD1_000645" "g.2159202_2159203del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2109201_2109202del" "" "pathogenic" "" "0000089629" "0" "70" "16" "2155891" "2155893" "del" "0" "00753" "PKD1_000605" "g.2155891_2155893del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2105890_2105892del" "" "likely pathogenic" "" "0000089630" "10" "50" "16" "2141144" "2141144" "subst" "0" "00753" "PKD1_000570" "g.2141144G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2091143G>T" "" "VUS" "" "0000089631" "10" "99" "16" "2144187" "2144188" "ins" "0" "00753" "PKD1_000604" "g.2144187_2144188insTT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2094186_2094187insTT" "" "pathogenic" "" "0000089632" "0" "30" "16" "2151981" "2151981" "subst" "0" "00753" "PKD1_000552" "g.2151981G>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2101980G>T" "" "likely benign" "" "0000089635" "0" "50" "16" "2142558" "2142558" "subst" "0" "00753" "PKD1_000590" "g.2142558A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2092557A>C" "" "VUS" "" "0000089636" "0" "70" "16" "2152830" "2152832" "del" "0" "00753" "PKD1_000564" "g.2152830_2152832del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2102829_2102831del" "" "likely pathogenic" "" "0000089637" "0" "70" "16" "2147838" "2147856" "del" "0" "00753" "PKD1_000551" "g.2147838_2147856del" "" "" "" "c.10167+25_+43del19" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2097837_2097855del" "" "likely pathogenic" "" "0000089638" "0" "99" "16" "2160047" "2160047" "subst" "0" "00753" "PKD1_000655" "g.2160047C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2110046C>T" "" "pathogenic" "" "0000089639" "20" "99" "16" "2161427" "2161433" "del" "0" "00753" "PKD1_000664" "g.2161427_2161433del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2111426_2111432del" "" "pathogenic" "" "0000089640" "0" "30" "16" "2147586" "2147586" "del" "0" "00753" "PKD1_000608" "g.2147586del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2097585del" "" "likely benign" "" "0000089641" "0" "70" "16" "2168019" "2168019" "subst" "0" "00753" "PKD1_000408" "g.2168019T>C" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2118018T>C" "" "likely pathogenic" "" "0000089642" "20" "99" "16" "2155865" "2155865" "subst" "0" "00753" "PKD1_000601" "g.2155865C>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2105864C>A" "" "pathogenic" "" "0000089643" "0" "50" "16" "2164329" "2164329" "subst" "4.92336E-5" "00753" "PKD1_000547" "g.2164329G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2114328G>C" "" "VUS" "" "0000089646" "10" "50" "16" "2155907" "2155907" "subst" "2.18596E-5" "00753" "PKD1_000606" "g.2155907C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2105906C>T" "" "VUS" "" "0000089647" "20" "30" "16" "2160920" "2160920" "subst" "9.81434E-5" "00753" "PKD1_000546" "g.2160920A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2110919A>G" "" "likely benign" "" "0000089648" "0" "50" "16" "2168413" "2168413" "subst" "0.00113754" "00753" "PKD1_000698" "g.2168413C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2118412C>T" "" "VUS" "" "0000089649" "0" "99" "16" "2140376" "2140376" "subst" "0" "00753" "PKD1_000561" "g.2140376G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2090375G>C" "" "pathogenic" "" "0000089650" "10" "70" "16" "2169172" "2169172" "subst" "0" "00753" "PKD1_000703" "g.2169172T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2119171T>C" "" "likely pathogenic" "" "0000089651" "2" "50" "16" "2161566" "2161566" "subst" "0" "00753" "PKD1_000667" "g.2161566G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2111565G>A" "" "VUS" "" "0000089652" "0" "70" "16" "2156461" "2156461" "subst" "0" "00753" "PKD1_000615" "g.2156461C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2106460C>A" "" "likely pathogenic" "" "0000089653" "20" "50" "16" "2142105" "2142105" "subst" "0" "00753" "PKD1_000585" "g.2142105C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2092104C>A" "" "VUS" "" "0000089654" "20" "50" "16" "2156627" "2156627" "subst" "0" "00753" "PKD1_000617" "g.2156627T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2106626T>G" "" "VUS" "" "0000089655" "0" "99" "16" "2161462" "2161462" "subst" "0" "00753" "PKD1_000665" "g.2161462G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2111461G>A" "" "pathogenic" "" "0000089656" "0" "70" "16" "2156173" "2156173" "subst" "0.00034756" "00753" "PKD1_000607" "g.2156173G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2106172G>A" "" "likely pathogenic" "" "0000089657" "10" "99" "16" "2164835" "2164835" "subst" "0" "00753" "PKD1_000686" "g.2164835G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2114834G>T" "" "pathogenic" "" "0000089659" "0" "99" "16" "2158696" "2158696" "subst" "0" "00753" "PKD1_000198" "g.2158696G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108695G>A" "" "pathogenic" "" "0000089661" "20" "99" "16" "2159524" "2159524" "dup" "0" "00753" "PKD1_000651" "g.2159524dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2109523dup" "" "pathogenic" "" "0000089663" "0" "99" "16" "2158516" "2158518" "del" "0" "00753" "PKD1_000628" "g.2158516_2158518del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108515_2108517del" "" "pathogenic" "" "0000089664" "20" "99" "16" "2168140" "2168146" "del" "0" "00753" "PKD1_000694" "g.2168140_2168146del" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2118139_2118145del" "" "pathogenic" "" "0000089665" "0" "70" "16" "2152089" "2152091" "del" "0" "00753" "PKD1_000554" "g.2152089_2152091del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2102088_2102090del" "" "likely pathogenic" "" "0000089666" "10" "99" "16" "2157905" "2157905" "del" "0" "00753" "PKD1_000619" "g.2157905del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2107904del" "" "pathogenic" "" "0000089667" "0" "99" "16" "2167553" "2167554" "ins" "0" "00753" "PKD1_000690" "g.2167553_2167554insN[13]" "" "" "" "c.1321_1322ins13" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000089668" "10" "30" "16" "2141447" "2141447" "subst" "0.000930233" "00753" "PKD1_000572" "g.2141447G>A" "" "" "" "" "reported in PKDB" "Germline" "no" "" "0" "" "" "g.2091446G>A" "" "likely benign" "" "0000089669" "10" "30" "16" "2144094" "2144094" "subst" "0" "00753" "PKD1_000600" "g.2144094T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2094093T>C" "" "likely benign" "" "0000089670" "0" "99" "16" "2142978" "2142978" "del" "0" "00753" "PKD1_000591" "g.2142978del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2092977del" "" "pathogenic" "" "0000089671" "1" "30" "16" "2160920" "2160920" "subst" "9.81434E-5" "00753" "PKD1_000546" "g.2160920A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110919A>G" "" "likely benign" "" "0000089673" "0" "99" "16" "2140752" "2140752" "subst" "0" "00753" "PKD1_000011" "g.2140752G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2090751G>A" "" "pathogenic" "" "0000089674" "0" "50" "16" "2159385" "2159385" "subst" "0.000375628" "00753" "PKD1_000649" "g.2159385G>C" "" "" "" "" "reported in PKDB" "Germline" "?" "" "0" "" "" "g.2109384G>C" "" "VUS" "" "0000089677" "0" "70" "16" "2149652" "2149652" "subst" "0.000318695" "00753" "PKD1_000612" "g.2149652C>T" "" "" "" "" "reported in PKDB" "Germline" "?" "" "0" "" "" "g.2099651C>T" "" "likely pathogenic" "" "0000089680" "0" "50" "16" "2159017" "2159017" "subst" "0.00021938" "00753" "PKD1_000641" "g.2159017G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2109016G>A" "" "VUS" "" "0000089681" "10" "99" "16" "2141780" "2141780" "subst" "0" "00753" "PKD1_000574" "g.2141780A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2091779A>T" "" "pathogenic" "" "0000089682" "0" "30" "16" "2158231" "2158231" "subst" "0.000658905" "00753" "PKD1_000625" "g.2158231G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108230G>A" "" "likely benign" "" "0000089683" "0" "30" "16" "2165323" "2165323" "subst" "0" "00753" "PKD1_000687" "g.2165323G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2115322G>A" "" "likely benign" "" "0000089684" "0" "30" "16" "2165323" "2165323" "subst" "0" "00753" "PKD1_000687" "g.2165323G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2115322G>A" "" "likely benign" "" "0000089685" "0" "30" "16" "2163084" "2163084" "subst" "0" "00753" "PKD1_000675" "g.2163084G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2113083G>T" "" "likely benign" "" "0000089687" "0" "30" "16" "2154470" "2154470" "subst" "0.0128048" "00753" "PKD1_000583" "g.2154470C>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2104469C>T" "" "likely benign" "" "0000089688" "0" "99" "16" "2158984" "2158984" "subst" "4.16462E-6" "00753" "PKD1_000640" "g.2158984G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108983G>A" "" "pathogenic" "" "0000089690" "0" "99" "16" "2164375" "2164385" "del" "0" "00753" "PKD1_000681" "g.2164375_2164385del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2114374_2114384del" "" "pathogenic" "" "0000089691" "0" "30" "16" "2165323" "2165323" "subst" "0" "00753" "PKD1_000687" "g.2165323G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2115322G>A" "" "likely benign" "" "0000089692" "0" "99" "16" "2160617" "2160617" "subst" "0" "00753" "PKD1_000659" "g.2160617G>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2110616G>T" "" "pathogenic" "" "0000089693" "0" "30" "16" "2164158" "2164158" "subst" "2.19599E-5" "00753" "PKD1_000678" "g.2164158C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2114157C>T" "" "likely benign" "" "0000089694" "0" "30" "16" "2156954" "2156954" "subst" "0.00115167" "00753" "PKD1_000618" "g.2156954C>T" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2106953C>T" "" "likely benign" "" "0000089695" "0" "30" "16" "2147555" "2147555" "subst" "0" "00753" "PKD1_000607" "g.2147555G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2097554G>C" "" "likely benign" "" "0000089696" "0" "70" "16" "2158773" "2158775" "del" "0" "00753" "PKD1_000636" "g.2158773_2158775del" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108772_2108774del" "" "likely pathogenic" "" "0000089697" "0" "30" "16" "2154475" "2154475" "subst" "0" "00753" "PKD1_000586" "g.2154475G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2104474G>A" "" "likely benign" "" "0000089698" "0" "70" "16" "2158620" "2158620" "subst" "0" "00753" "PKD1_000630" "g.2158620G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108619G>A" "" "likely pathogenic" "" "0000089699" "0" "30" "16" "2151911" "2151911" "subst" "0" "00753" "PKD1_000631" "g.2151911G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2101910G>C" "" "likely benign" "" "0000089700" "0" "30" "16" "2151893" "2151893" "subst" "0" "00753" "PKD1_000630" "g.2151893G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2101892G>C" "" "likely benign" "" "0000089702" "0" "30" "16" "2163115" "2163150" "del" "0" "00753" "PKD1_000676" "g.2163115_2163150del" "" "" "" "c.2985+14_49del" "" "Germline" "" "" "0" "" "" "g.2113114_2113149del" "" "likely benign" "" "0000089703" "0" "30" "16" "2148011" "2148011" "subst" "0.000138996" "00753" "PKD1_000611" "g.2148011G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2098010G>A" "" "likely benign" "" "0000089704" "0" "30" "16" "2162603" "2162603" "subst" "0" "00753" "PKD1_000673" "g.2162603C>T" "" "" "" "" "" "Unknown" "" "rs570246389" "0" "" "" "g.2112602C>T" "" "likely benign" "" "0000089705" "0" "30" "16" "2151891" "2151891" "subst" "0" "00753" "PKD1_000629" "g.2151891G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2101890G>C" "" "likely benign" "" "0000089706" "10" "99" "16" "2160799" "2160800" "del" "0" "00753" "PKD1_000661" "g.2160799_2160800del" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2110798_2110799del" "" "pathogenic" "" "0000089707" "1" "30" "16" "2153933" "2153933" "subst" "0.149039" "00753" "PKD1_000581" "g.2153933G>A" "" "" "" "" "" "Germline" "" "rs9938566" "0" "" "" "g.2103932G>A" "" "likely benign" "" "0000089708" "0" "50" "16" "2143955" "2143955" "subst" "0.00206345" "00753" "PKD1_000167" "g.2143955C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2093954C>T" "" "VUS" "" "0000089709" "0" "70" "16" "2140180" "2140180" "subst" "0.000926424" "00753" "PKD1_000086" "g.2140180G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2090179G>A" "" "likely pathogenic" "" "0000089711" "21" "30" "16" "2164687" "2164687" "subst" "3.68292E-5" "00753" "PKD1_000685" "g.2164687G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114686G>A" "" "likely benign" "" "0000089712" "0" "30" "16" "2164687" "2164687" "subst" "3.68292E-5" "00753" "PKD1_000685" "g.2164687G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114686G>A" "" "likely benign" "" "0000089713" "0" "30" "16" "2164687" "2164687" "subst" "3.68292E-5" "00753" "PKD1_000685" "g.2164687G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114686G>A" "" "likely benign" "" "0000089714" "11" "70" "16" "2153383" "2153391" "dup" "0" "00753" "PKD1_000569" "g.2153383_2153391dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103382_2103390dup" "" "likely pathogenic" "" "0000089715" "0" "99" "16" "2155866" "2155870" "del" "0" "00753" "PKD1_000603" "g.2155866_2155870del" "" "" "" "" "reported in PKDB ?" "Unknown" "" "" "0" "" "" "g.2105865_2105869del" "" "pathogenic" "" "0000089717" "0" "50" "16" "2142105" "2142105" "subst" "0" "00753" "PKD1_000586" "g.2142105C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2092104C>G" "" "VUS" "" "0000089718" "0" "30" "16" "2153969" "2153969" "subst" "0" "00753" "PKD1_000582" "g.2153969C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2103968C>T" "" "likely benign" "" "0000089720" "10" "99" "16" "2161486" "2161503" "del" "0" "00753" "PKD1_000666" "g.2161486_2161503del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111485_2111502del" "" "pathogenic" "" "0000089721" "0" "50" "16" "2154549" "2154549" "subst" "0.00142352" "00753" "PKD1_000588" "g.2154549G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2104548G>A" "" "VUS" "" "0000089722" "0" "30" "16" "2143762" "2143762" "subst" "5.8995E-6" "00753" "PKD1_000596" "g.2143762G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2093761G>A" "" "likely benign" "" "0000089723" "0" "50" "16" "2158843" "2158843" "subst" "0" "00753" "PKD1_000637" "g.2158843T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2108842T>C" "" "VUS" "" "0000089724" "0" "30" "16" "2168022" "2168022" "subst" "0.00256961" "00753" "PKD1_000054" "g.2168022C>A" "" "" "" "" "" "Germline" "" "rs199476099" "0" "" "" "g.2118021C>A" "" "likely benign" "" "0000089726" "0" "30" "16" "2160904" "2160904" "subst" "0.00592388" "00753" "PKD1_000662" "g.2160904C>T" "" "" "" "" "" "Unknown" "" "rs140980374" "0" "" "" "g.2110903C>T" "" "likely benign" "" "0000089727" "0" "50" "16" "2159733" "2159733" "subst" "0" "00753" "PKD1_000653" "g.2159733G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2109732G>A" "" "VUS" "" "0000089728" "0" "99" "16" "2159231" "2159231" "subst" "0" "00753" "PKD1_000646" "g.2159231G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2109230G>T" "" "pathogenic" "" "0000089729" "0" "99" "16" "2154644" "2154645" "del" "0" "00753" "PKD1_000120" "g.2154644_2154645del" "" "" "" "c.8017-2_-1delAG" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2104643_2104644del" "" "pathogenic" "" "0000089730" "0" "50" "16" "2158668" "2158668" "subst" "0" "00753" "PKD1_000633" "g.2158668T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108667T>A" "" "VUS" "" "0000089731" "0" "99" "16" "2185530" "2185536" "dup" "0" "00753" "PKD1_000708" "g.2185530_2185536dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2135529_2135535dup" "" "pathogenic" "" "0000089732" "20" "99" "16" "2149686" "2149686" "dup" "0" "00753" "PKD1_000614" "g.2149686dup" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2099685dup" "" "pathogenic" "" "0000089733" "0" "30" "16" "2169428" "2169428" "subst" "0" "00753" "PKD1_000705" "g.2169428G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2119427G>A" "" "likely benign" "" "0000089734" "20" "99" "16" "2162883" "2162883" "subst" "0" "00753" "PKD1_000674" "g.2162883G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2112882G>A" "" "pathogenic" "" "0000089735" "1" "50" "16" "2141018" "2141018" "subst" "0.000614917" "00753" "PKD1_000567" "g.2141018C>T" "" "" "" "" "" "Germline" "" "rs536586062" "0" "" "" "g.2091017C>T" "" "VUS" "" "0000089739" "0" "99" "16" "2160153" "2160154" "del" "0" "00753" "PKD1_000656" "g.2160153_2160154del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic" "" "0000089740" "10" "99" "16" "2141004" "2141004" "subst" "0" "00753" "PKD1_000566" "g.2141004G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2091003G>A" "" "pathogenic" "" "0000089741" "10" "99" "16" "2156218" "2156219" "del" "0" "00753" "PKD1_000608" "g.2156218_2156219del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2106217_2106218del" "" "pathogenic" "" "0000089742" "20" "99" "16" "2140944" "2140944" "subst" "0" "00753" "PKD1_000320" "g.2140944G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2090943G>A" "" "pathogenic" "" "0000089743" "1" "30" "16" "2147444" "2147444" "subst" "0" "00753" "PKD1_000605" "g.2147444C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2097443C>T" "" "likely benign" "" "0000089744" "1" "70" "16" "2143982" "2143982" "subst" "0" "00753" "PKD1_000599" "g.2143982G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2093981G>A" "" "likely pathogenic" "" "0000089745" "0" "50" "16" "2158959" "2158959" "subst" "0.000101971" "00753" "PKD1_000639" "g.2158959G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108958G>C" "" "VUS" "" "0000089746" "1" "99" "16" "2158362" "2158362" "subst" "0" "00753" "PKD1_000177" "g.2158362G>C" "" "" "" "" "reported in PKDB" "Germline" "yes" "" "0" "" "" "g.2108361G>C" "" "pathogenic" "" "0000089747" "1" "30" "16" "2141958" "2141958" "del" "0" "00753" "PKD1_000575" "g.2141958del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2091957del" "" "likely benign" "" "0000089748" "1" "50" "16" "2161788" "2161788" "subst" "0.000645004" "00753" "PKD1_000669" "g.2161788G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2111787G>A" "" "VUS" "" "0000089749" "1" "30" "16" "2143796" "2143796" "subst" "0" "00753" "PKD1_000597" "g.2143796C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2093795C>G" "" "likely benign" "" "0000089750" "1" "30" "16" "2142037" "2142037" "dup" "0" "00753" "PKD1_000576" "g.2142037dup" "" "" "" "c.11411+11_12insC" "" "Germline" "" "" "0" "" "" "g.2092036dup" "" "likely benign" "" "0000089751" "20" "99" "16" "2159118" "2159118" "subst" "0" "00753" "PKD1_000643" "g.2159118G>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2109117G>T" "" "pathogenic" "" "0000089752" "2" "70" "16" "2140288" "2140288" "subst" "0" "00753" "PKD1_000710" "g.2140288C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2090287C>T" "" "likely pathogenic" "" "0000089754" "0" "30" "16" "2158214" "2158214" "subst" "0.000281052" "00753" "PKD1_000624" "g.2158214G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2108213G>A" "" "likely benign" "" "0000089755" "0" "30" "16" "2140624" "2140628" "del" "0" "00753" "PKD1_000562" "g.2140624_2140628del" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.2090623_2090627del" "" "likely benign" "" "0000089756" "0" "70" "16" "2150549" "2150549" "subst" "0" "00753" "PKD1_000626" "g.2150549C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2100548C>T" "" "likely pathogenic" "" "0000089757" "0" "30" "16" "2139851" "2139851" "subst" "4.38124E-6" "00753" "PKD1_000712" "g.2139851G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2089850G>C" "" "likely benign" "" "0000089758" "10" "99" "16" "2144096" "2144097" "dup" "0" "00753" "PKD1_000602" "g.2144096_2144097dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2094095_2094096dup" "" "pathogenic" "" "0000089759" "0" "50" "16" "2161032" "2161032" "subst" "5.32303E-5" "00753" "PKD1_000663" "g.2161032T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2111031T>A" "" "VUS" "" "0000089760" "0" "30" "16" "2154470" "2154470" "subst" "0.0128048" "00753" "PKD1_000583" "g.2154470C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2104469C>T" "" "likely benign" "" "0000089761" "0" "30" "16" "2141204" "2141204" "subst" "0" "00753" "PKD1_000571" "g.2141204A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2091203A>C" "" "likely benign" "" "0000089762" "0" "30" "16" "2143517" "2143517" "subst" "0.000283025" "00753" "PKD1_000593" "g.2143517C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2093516C>T" "" "likely benign" "" "0000089763" "0" "50" "16" "2139898" "2139898" "subst" "0" "00753" "PKD1_000711" "g.2139898C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2089897C>G" "" "VUS" "" "0000089764" "0" "50" "16" "2143012" "2143012" "subst" "8.13617E-6" "00753" "PKD1_000592" "g.2143012C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2093011C>A" "" "VUS" "" "0000089765" "0" "30" "16" "2147857" "2147857" "subst" "0" "00753" "PKD1_000610" "g.2147857T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2097856T>C" "" "likely benign" "" "0000089766" "0" "50" "16" "2150466" "2150466" "subst" "0.000991262" "00753" "PKD1_000190" "g.2150466T>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2100465T>A" "" "VUS" "" "0000089768" "0" "30" "16" "2156412" "2156412" "subst" "0.000192519" "00753" "PKD1_000548" "g.2156412G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2106411G>A" "" "likely benign" "" "0000089769" "0" "30" "16" "2147540" "2147540" "subst" "4.33569E-6" "00753" "PKD1_000606" "g.2147540T>G" "" "" "" "" "" "Unknown" "" "rs533605114" "0" "" "" "g.2097539T>G" "" "likely benign" "" "0000089770" "1" "50" "16" "2149981" "2149981" "subst" "0" "00753" "PKD1_000615" "g.2149981G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2099980G>T" "" "VUS" "" "0000089771" "1" "99" "16" "2160039" "2160040" "del" "0" "00753" "PKD1_000654" "g.2160039_2160040del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2110038_2110039del" "" "pathogenic" "" "0000089772" "0" "99" "16" "2153720" "2153720" "subst" "0" "00753" "PKD1_000578" "g.2153720C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2103719C>A" "" "pathogenic" "" "0000089773" "1" "50" "16" "2156425" "2156425" "subst" "0.000463563" "00753" "PKD1_000613" "g.2156425G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2106424G>A" "" "VUS" "" "0000089774" "10" "99" "16" "2140778" "2140778" "subst" "4.13781E-6" "00753" "PKD1_000565" "g.2140778C>T" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2090777C>T" "" "pathogenic" "" "0000089775" "0" "50" "16" "2153297" "2153297" "subst" "0" "00753" "PKD1_000568" "g.2153297G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2103296G>A" "" "VUS" "" "0000089776" "0" "50" "16" "2143979" "2143979" "subst" "0.000426292" "00753" "PKD1_000598" "g.2143979C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2093978C>A" "" "VUS" "" "0000089777" "1" "50" "16" "2164424" "2164424" "subst" "0" "00753" "PKD1_000683" "g.2164424C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2114423C>G" "" "VUS" "" "0000089778" "0" "50" "16" "2158419" "2158419" "subst" "0.00234517" "00753" "PKD1_000079" "g.2158419G>A" "" "" "" "" "reported in PKDB" "Unknown" "" "" "0" "" "" "g.2108418G>A" "" "VUS" "" "0000089779" "1" "50" "16" "2139814" "2139814" "subst" "0.00377645" "00753" "PKD1_000046" "g.2139814G>A" "" "" "" "" "reported in PKDB" "Germline" "" "" "0" "" "" "g.2089813G>A" "" "VUS" "" "0000089780" "0" "50" "16" "2164329" "2164329" "subst" "4.92336E-5" "00753" "PKD1_000547" "g.2164329G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2114328G>C" "" "VUS" "" "0000089781" "0" "30" "16" "2156412" "2156412" "subst" "0.000192519" "00753" "PKD1_000548" "g.2156412G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2106411G>A" "" "likely benign" "" "0000089782" "0" "30" "16" "2147817" "2147817" "subst" "0.000175288" "00753" "PKD1_000550" "g.2147817C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2097816C>G" "" "likely benign" "" "0000130297" "0" "70" "16" "2156842" "2156842" "del" "0" "01758" "PKD1_000727" "g.2156842del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.2106841del" "" "likely pathogenic" "ACMG" "0000140437" "0" "55" "16" "2139743" "2139743" "subst" "0" "01808" "PKD1_000783" "g.2139743G>A" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "" "0" "" "" "g.2089742G>A" "" "VUS" "" "0000140438" "0" "55" "16" "2139750" "2139750" "subst" "0" "01808" "PKD1_000776" "g.2139750T>C" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "rs758833703" "0" "" "" "g.2089749T>C" "" "VUS" "" "0000140439" "0" "55" "16" "2139860" "2139860" "subst" "0" "01808" "PKD1_000777" "g.2139860A>G" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "" "0" "" "" "g.2089859A>G" "" "VUS" "" "0000140440" "0" "55" "16" "2140010" "2140010" "subst" "0.187805" "01808" "PKD1_000778" "g.2140010A>G" "8/19 patients" "" "" "" "HC; Likely PB FN; Likely S FN" "Unknown" "" "rs7203729" "0" "" "" "g.2090009A>G" "" "VUS" "" "0000140441" "0" "55" "16" "2140321" "2140321" "subst" "0.0666581" "01808" "PKD1_000779" "g.2140321G>A" "3/19 patients" "" "" "" "HC" "Unknown" "" "rs79899502" "0" "" "" "g.2090320G>A" "" "VUS" "" "0000140442" "0" "55" "16" "2140454" "2140454" "subst" "0.186045" "01808" "PKD1_000780" "g.2140454T>C" "8/19 patients" "" "" "" "HC; Likely S FN" "Unknown" "" "rs3087632" "0" "" "" "g.2090453T>C" "" "VUS" "" "0000140443" "0" "55" "16" "2140454" "2140454" "subst" "0.186045" "01808" "PKD1_000780" "g.2140454T>C" "10/19 patients" "" "" "" "HC; Likely S FN" "Unknown" "" "rs3087632" "0" "" "" "g.2090453T>C" "" "VUS" "" "0000140444" "0" "55" "16" "2140548" "2140548" "subst" "1.26749E-5" "01808" "PKD1_000781" "g.2140548G>A" "1/19 patients" "" "" "" "HC; Likely S FP" "Unknown" "" "rs372105572" "0" "" "" "g.2090547G>A" "" "VUS" "" "0000140445" "0" "55" "16" "2140554" "2140554" "subst" "0.0655624" "01808" "PKD1_000782" "g.2140554G>A" "3/19 patients" "" "" "" "HC; Likely S FN" "Unknown" "" "rs3209986" "0" "" "" "g.2090553G>A" "" "VUS" "" "0000140446" "0" "55" "16" "2140554" "2140554" "subst" "0.0655624" "01808" "PKD1_000782" "g.2140554G>A" "4/19 patients" "" "" "" "HC; Likely S FN" "Unknown" "" "rs3209986" "0" "" "" "g.2090553G>A" "" "VUS" "" "0000140447" "0" "55" "16" "2140680" "2140680" "subst" "0.181408" "01808" "PKD1_000764" "g.2140680T>C" "8/19 patients" "" "" "" "HC; Likely S FN" "Unknown" "" "rs10960" "0" "" "" "g.2090679T>C" "" "VUS" "" "0000140448" "0" "55" "16" "2140680" "2140680" "subst" "0.181408" "01808" "PKD1_000764" "g.2140680T>C" "10/19 patients" "" "" "" "HC; Likely S FN" "Unknown" "" "rs10960" "0" "" "" "g.2090679T>C" "" "VUS" "" "0000140449" "0" "55" "16" "2140972" "2140972" "subst" "0.0202177" "01808" "PKD1_000765" "g.2140972G>A" "2/19 patients" "" "" "" "HC" "Unknown" "" "rs77634115" "0" "" "" "g.2090971G>A" "" "VUS" "" "0000140450" "0" "55" "16" "2141454" "2141454" "subst" "0.017369" "01808" "PKD1_000766" "g.2141454G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs567482892" "0" "" "" "g.2091453G>A" "" "VUS" "" "0000140451" "0" "99" "16" "2141583" "2141583" "del" "0" "01808" "PKD1_000767" "g.2141583del" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs724159823" "0" "" "" "g.2091582del" "" "pathogenic" "" "0000140452" "0" "99" "16" "2141910" "2141910" "subst" "0" "01808" "PKD1_000768" "g.2141910G>T" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2091909G>T" "" "pathogenic" "" "0000140453" "0" "55" "16" "2143865" "2143865" "subst" "0.0219739" "01808" "PKD1_000769" "g.2143865G>A" "2/19 patients" "" "" "" "HC" "Unknown" "" "rs116114803" "0" "" "" "g.2093864G>A" "" "VUS" "" "0000140454" "0" "55" "16" "2144176" "2144176" "subst" "0.0731451" "01808" "PKD1_000770" "g.2144176G>A" "3/19 patients" "" "" "" "HC" "Unknown" "" "rs34197769" "0" "" "" "g.2094175G>A" "" "VUS" "" "0000140455" "0" "55" "16" "2149738" "2149738" "subst" "0.00341381" "01808" "PKD1_000771" "g.2149738G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs141101590" "0" "" "" "g.2099737G>A" "" "VUS" "" "0000140456" "0" "99" "16" "2152061" "2152061" "subst" "0" "01808" "PKD1_000772" "g.2152061C>T" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2102060C>T" "" "pathogenic" "" "0000140457" "0" "55" "16" "2152129" "2152129" "subst" "0.0313672" "01808" "PKD1_000773" "g.2152129A>G" "6/19 patients" "rs12926160; rs144582212" "" "" "HC" "Unknown" "" "rs12926160" "0" "" "" "g.2102128A>G" "" "VUS" "" "0000140458" "0" "99" "16" "2152136" "2152136" "del" "0" "01808" "PKD1_000774" "g.2152136del" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs780284643" "0" "" "" "g.2102135del" "" "pathogenic" "" "0000140459" "0" "55" "16" "2152387" "2152388" "delins" "0" "01808" "PKD1_000539" "g.2152387_2152388delinsGG" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs372874584" "0" "" "" "g.2102386_2102387delinsGG" "" "VUS" "" "0000140460" "0" "55" "16" "2152388" "2152388" "subst" "0.156063" "01808" "PKD1_000775" "g.2152388C>G" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "rs9935834" "0" "" "" "g.2102387C>G" "" "VUS" "" "0000140461" "0" "55" "16" "2152396" "2152396" "subst" "0.000224276" "01808" "PKD1_000715" "g.2152396G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs145906459" "0" "" "" "g.2102395G>A" "" "VUS" "" "0000140462" "0" "99" "16" "2152545" "2152550" "del" "0" "01808" "PKD1_000716" "g.2152545_2152550del" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2102544_2102549del" "" "pathogenic" "" "0000140463" "0" "99" "16" "2152904" "2152904" "dup" "0" "01808" "PKD1_000717" "g.2152904dup" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2102903dup" "" "pathogenic" "" "0000140464" "0" "55" "16" "2153618" "2153618" "subst" "0.00621509" "01808" "PKD1_000718" "g.2153618C>T" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs149151043" "0" "" "" "g.2103617C>T" "" "VUS" "" "0000140465" "0" "99" "16" "2153765" "2153765" "subst" "0.00456926" "01808" "PKD1_000442" "g.2153765G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs144979397" "0" "" "" "g.2103764G>A" "" "pathogenic" "" "0000140466" "0" "55" "16" "2154491" "2154491" "subst" "0.00543568" "01808" "PKD1_000719" "g.2154491C>T" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs199569003" "0" "" "" "g.2104490C>T" "" "VUS" "" "0000140467" "0" "55" "16" "2154537" "2154537" "subst" "0.00960525" "01808" "PKD1_000720" "g.2154537G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs147350387" "0" "" "" "g.2104536G>A" "" "VUS" "" "0000140468" "0" "55" "16" "2154640" "2154640" "subst" "0.00921845" "01808" "PKD1_000721" "g.2154640G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs144557371" "0" "" "" "g.2104639G>A" "" "VUS" "" "0000140469" "0" "99" "16" "2154644" "2154645" "del" "0" "01808" "PKD1_000120" "g.2154644_2154645del" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2104643_2104644del" "" "pathogenic" "" "0000140470" "0" "99" "16" "2155399" "2155399" "subst" "2.19744E-5" "01808" "PKD1_000722" "g.2155399G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs748496650" "0" "" "" "g.2105398G>A" "" "pathogenic" "" "0000140471" "0" "55" "16" "2155426" "2155426" "subst" "0.0425094" "01808" "PKD1_000723" "g.2155426T>C" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs9936785" "0" "" "" "g.2105425T>C" "" "VUS" "" "0000140472" "0" "55" "16" "2156021" "2156021" "subst" "0.0914472" "01808" "PKD1_000724" "g.2156021A>G" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs28575767" "0" "" "" "g.2106020A>G" "" "VUS" "" "0000140473" "0" "55" "16" "2156447" "2156447" "subst" "0.154816" "01808" "PKD1_000725" "g.2156447G>A" "7/19 patients" "" "" "" "HC" "Unknown" "" "rs2003782" "0" "" "" "g.2106446G>A" "" "VUS" "" "0000140474" "0" "99" "16" "2156674" "2156674" "subst" "0" "01808" "PKD1_000726" "g.2156674C>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2106673C>A" "" "pathogenic" "" "0000140475" "0" "55" "16" "2156850" "2156850" "subst" "0.142392" "01808" "PKD1_000728" "g.2156850A>G" "7/19 patients" "" "" "" "HC" "Unknown" "" "rs2457533" "0" "" "" "g.2106849A>G" "" "VUS" "" "0000140476" "0" "99" "16" "2157959" "2157965" "dup" "0" "01808" "PKD1_000124" "g.2157959_2157965dup" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2107958_2107964dup" "" "pathogenic" "" "0000140477" "0" "55" "16" "2157963" "2157963" "subst" "4.15478E-5" "01808" "PKD1_000729" "g.2157963C>T" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs575211353" "0" "" "" "g.2107962C>T" "" "VUS" "" "0000140478" "0" "99" "16" "2158503" "2158517" "del" "0" "01808" "PKD1_000128" "g.2158503_2158517del" "1/19 patients" "" "" "" "HC; Complete PB LAA Confident Assembly" "Unknown" "" "" "0" "" "" "g.2108502_2108516del" "" "pathogenic" "" "0000140479" "0" "55" "16" "2158680" "2158680" "subst" "0.0022994" "01808" "PKD1_000730" "g.2158680C>T" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "rs145217118" "0" "" "" "g.2108679C>T" "" "VUS" "" "0000140480" "0" "99" "16" "2158944" "2158945" "ins" "0" "01808" "PKD1_000731" "g.2158944_2158945insAA" "1/19 patients" "" "" "" "Likely PB FN" "Unknown" "" "" "0" "" "" "g.2108943_2108944insAA" "" "pathogenic" "" "0000140481" "0" "55" "16" "2159405" "2159405" "subst" "0.0310929" "01808" "PKD1_000732" "g.2159405C>T" "2/19 patients" "" "" "" "HC" "Unknown" "" "rs2575313" "0" "" "" "g.2109404C>T" "" "VUS" "" "0000140482" "0" "55" "16" "2159996" "2159996" "subst" "0.160191" "01808" "PKD1_000733" "g.2159996G>A" "7/19 patients" "" "" "" "HC" "Unknown" "" "rs9935526" "0" "" "" "g.2109995G>A" "" "VUS" "" "0000140483" "0" "99" "16" "2160199" "2160200" "delins" "0" "01808" "PKD1_000734" "g.2160199_2160200delinsG" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2110198_2110199delinsG" "" "pathogenic" "" "0000140484" "0" "55" "16" "2160200" "2160200" "subst" "0" "01808" "PKD1_000735" "g.2160200A>G" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "rs777909326" "0" "" "" "g.2110199A>G" "" "VUS" "" "0000140485" "0" "55" "16" "2160251" "2160251" "subst" "0.00137944" "01808" "PKD1_000736" "g.2160251G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs148852027" "0" "" "" "g.2110250G>A" "" "VUS" "" "0000140486" "0" "55" "16" "2160494" "2160494" "subst" "0.0767881" "01808" "PKD1_000737" "g.2160494C>T" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs79884128" "0" "" "" "g.2110493C>T" "" "VUS" "" "0000140487" "0" "55" "16" "2160503" "2160503" "subst" "0.163281" "01808" "PKD1_000738" "g.2160503T>G" "7/19 patients" "" "" "" "HC; D; Likely S FP" "Unknown" "" "rs71385734" "0" "" "" "g.2110502T>G" "" "VUS" "" "0000140488" "0" "55" "16" "2160503" "2160503" "subst" "0.163281" "01808" "PKD1_000738" "g.2160503T>G" "1/19 patients" "" "" "" "HC; D; Likely S FP" "Unknown" "" "rs71385734" "0" "" "" "g.2110502T>G" "" "VUS" "" "0000140489" "0" "55" "16" "2160693" "2160693" "subst" "3.33553E-5" "01808" "PKD1_000739" "g.2160693C>G" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2110692C>G" "" "VUS" "" "0000140490" "0" "99" "16" "2160922" "2160922" "dup" "0" "01808" "PKD1_000740" "g.2160922dup" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2110921dup" "" "pathogenic" "" "0000140491" "0" "55" "16" "2160973" "2160973" "subst" "0.0646496" "01808" "PKD1_000741" "g.2160973A>G" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs116092985" "0" "" "" "g.2110972A>G" "" "VUS" "" "0000140492" "0" "55" "16" "2161525" "2161525" "subst" "3.50979E-5" "01808" "PKD1_000742" "g.2161525G>C" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs144338515" "0" "" "" "g.2111524G>C" "" "VUS" "" "0000140493" "0" "55" "16" "2161655" "2161655" "subst" "0.00711697" "01808" "PKD1_000743" "g.2161655G>C" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs143784787" "0" "" "" "g.2111654G>C" "" "VUS" "" "0000140494" "0" "55" "16" "2161793" "2161793" "subst" "0.0882051" "01808" "PKD1_000744" "g.2161793G>A" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs74331768" "0" "" "" "g.2111792G>A" "" "VUS" "" "0000140495" "0" "55" "16" "2161796" "2161796" "subst" "0.0884395" "01808" "PKD1_000745" "g.2161796G>A" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs75510884" "0" "" "" "g.2111795G>A" "" "VUS" "" "0000140496" "0" "55" "16" "2162361" "2162361" "subst" "0.0706129" "01808" "PKD1_000746" "g.2162361A>G" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs2549677" "0" "" "" "g.2112360A>G" "" "VUS" "" "0000140497" "0" "55" "16" "2162839" "2162839" "subst" "0.0380086" "01808" "PKD1_000747" "g.2162839T>C" "3/19 patients" "" "" "" "HC" "Unknown" "" "rs2099534" "0" "" "" "g.2112838T>C" "" "VUS" "" "0000140498" "0" "55" "16" "2162850" "2162850" "subst" "2.48651E-5" "01808" "PKD1_000748" "g.2162850T>C" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs369180760" "0" "" "" "g.2112849T>C" "" "VUS" "" "0000140499" "0" "55" "16" "2162887" "2162887" "subst" "0.104178" "01808" "PKD1_000749" "g.2162887A>G" "5/19 patients" "" "" "" "HC" "Unknown" "" "rs2369068" "0" "" "" "g.2112886A>G" "" "VUS" "" "0000140500" "0" "55" "16" "2164294" "2164294" "subst" "0.0551443" "01808" "PKD1_000750" "g.2164294G>A" "2/19 patients" "" "" "" "HC" "Unknown" "" "rs35965348" "0" "" "" "g.2114293G>A" "" "VUS" "" "0000140501" "0" "55" "16" "2164324" "2164324" "subst" "0.0552375" "01808" "PKD1_000751" "g.2164324C>T" "2/19 patients" "" "" "" "HC" "Unknown" "" "rs35667726" "0" "" "" "g.2114323C>T" "" "VUS" "" "0000140502" "0" "55" "16" "2164330" "2164330" "subst" "0.0129262" "01808" "PKD1_000752" "g.2164330T>G" "2/19 patients" "" "" "" "HC" "Unknown" "" "rs142357713" "0" "" "" "g.2114329T>G" "" "VUS" "" "0000140503" "0" "99" "16" "2164336" "2164345" "del" "0" "01808" "PKD1_000753" "g.2164336_2164345del" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2114335_2114344del" "" "pathogenic" "" "0000140504" "0" "99" "16" "2164757" "2164757" "del" "0" "01808" "PKD1_000754" "g.2164757del" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs775710328" "0" "" "" "g.2114756del" "" "pathogenic" "" "0000140505" "0" "55" "16" "2164915" "2164915" "subst" "0.000745537" "01808" "PKD1_000755" "g.2164915G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs527655141" "0" "" "" "g.2114914G>A" "" "VUS" "" "0000140506" "0" "55" "16" "2165630" "2165630" "subst" "0.154674" "01808" "PKD1_000756" "g.2165630T>C" "7/19 patients" "" "" "" "HC" "Unknown" "" "rs35929659" "0" "" "" "g.2115629T>C" "" "VUS" "" "0000140507" "0" "55" "16" "2166838" "2166838" "subst" "1.50921E-5" "01808" "PKD1_000757" "g.2166838G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "rs759092782" "0" "" "" "g.2116837G>A" "" "VUS" "" "0000140508" "0" "99" "16" "2167589" "2167589" "subst" "0" "01808" "PKD1_000758" "g.2167589C>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2117588C>A" "" "pathogenic" "" "0000140509" "0" "99" "16" "2167614" "2167614" "subst" "0" "01808" "PKD1_000759" "g.2167614G>A" "1/19 patients" "" "" "" "HC" "Unknown" "" "" "0" "" "" "g.2117613G>A" "" "pathogenic" "" "0000140510" "0" "55" "16" "2185509" "2185509" "subst" "0" "01808" "PKD1_000760" "g.2185509G>A" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "" "0" "" "" "g.2135508G>A" "" "VUS" "" "0000140511" "0" "55" "16" "2185562" "2185562" "subst" "0" "01808" "PKD1_000761" "g.2185562G>A" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "" "0" "" "" "g.2135561G>A" "" "VUS" "" "0000140512" "0" "55" "16" "2185569" "2185569" "subst" "0" "01808" "PKD1_000762" "g.2185569G>A" "2/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "" "0" "" "" "g.2135568G>A" "" "VUS" "" "0000140513" "0" "55" "16" "2185595" "2185595" "subst" "0" "01808" "PKD1_000763" "g.2185595G>A" "1/19 patients" "" "" "" "HC; D; Likely S FN" "Unknown" "" "" "0" "" "" "g.2135594G>A" "" "VUS" "" "0000147094" "0" "90" "16" "2153747" "2153747" "del" "0" "01741" "PKD1_000713" "g.2153747del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2103746del" "" "pathogenic" "" "0000147095" "0" "50" "16" "2166106" "2166106" "subst" "0" "01741" "PKD1_000714" "g.2166106G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2116105G>A" "" "VUS" "" "0000169392" "0" "70" "16" "2154537" "2154537" "subst" "0.00960525" "00587" "PKD1_000720" "g.2154537G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001009944.2(PKD1):c.8123C>T p.(Thr2708Met)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.2104536G>A" "" "likely pathogenic" "" "0000169437" "0" "70" "16" "2143685" "2143685" "subst" "4.39298E-6" "00587" "PKD1_000784" "g.2143685C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001009944.2(PKD1):c.10876G>A p.(Glu3626Lys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.2093684C>T" "" "likely pathogenic" "" "0000221917" "0" "90" "16" "2164695" "2164695" "subst" "0" "02262" "PKD1_000785" "g.2164695G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114694G>A" "" "pathogenic" "" "0000221947" "0" "90" "16" "2152532" "2152532" "subst" "0" "02262" "PKD1_000786" "g.2152532G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102531G>T" "" "pathogenic" "" "0000221948" "0" "90" "16" "2140562" "2140562" "subst" "0" "02262" "PKD1_000787" "g.2140562C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2090561C>T" "" "pathogenic" "" "0000221951" "0" "90" "16" "2141895" "2141895" "subst" "0" "02262" "PKD1_000788" "g.2141895C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2091894C>T" "" "likely pathogenic" "" "0000221957" "0" "90" "16" "2150025" "2150025" "subst" "0" "02262" "PKD1_000790" "g.2150025G>A" "" "" "" "" "variant not found in online datasets" "Germline" "yes" "" "0" "" "" "g.2100024G>A" "" "pathogenic" "" "0000221958" "0" "90" "16" "2159284" "2159284" "subst" "0" "02262" "PKD1_000791" "g.2159284G>A" "" "" "" "" "Variant not found in online datasets" "Germline" "yes" "" "0" "" "" "g.2109283G>A" "" "pathogenic" "" "0000221962" "0" "90" "16" "2166963" "2166963" "subst" "0" "02262" "PKD1_000789" "g.2166963G>A" "" "" "" "" "Variant not found in online datasets" "Germline" "yes" "" "0" "" "" "g.2116962G>A" "" "pathogenic" "" "0000221963" "0" "90" "16" "2156889" "2156889" "subst" "0" "02262" "PKD1_000194" "g.2156889G>A" "" "" "" "" "Variant reported in Autosomal Dominant Polycystic Kidney Disease: Mutation Database as definitely pathogenic" "Germline" "yes" "" "0" "" "" "g.2106888G>A" "" "pathogenic" "" "0000222060" "20" "70" "16" "2150025" "2150025" "subst" "0" "02262" "PKD1_000790" "g.2150025G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2100024G>A" "" "likely pathogenic" "" "0000222061" "0" "70" "16" "2149933" "2149933" "subst" "0" "02262" "PKD1_000792" "g.2149933G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2099932G>T" "" "likely pathogenic" "" "0000222105" "10" "70" "16" "2159179" "2159179" "subst" "0" "02262" "PKD1_000793" "g.2159179G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2109178G>A" "" "likely pathogenic" "" "0000222106" "0" "70" "16" "2158984" "2158984" "subst" "4.16462E-6" "02262" "PKD1_000640" "g.2158984G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2108983G>A" "" "likely pathogenic" "" "0000222713" "0" "90" "16" "2164535" "2164535" "dup" "0" "02262" "PKD1_000794" "g.2164535dup" "" "Variant found in Mayo as Definetly pathogenic" "" "" "" "Germline" "?" "" "0" "" "" "g.2114534dup" "" "likely pathogenic" "" "0000222717" "0" "90" "16" "2162417" "2162429" "del" "0" "02262" "PKD1_000795" "g.2162417_2162429del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2112416_2112428del" "" "pathogenic" "" "0000222718" "0" "70" "16" "2161772" "2161773" "del" "0" "02262" "PKD1_000796" "g.2161772_2161773del" "" "" "" "" "Variant not found in online datasets" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2111771_2111772del" "" "likely pathogenic" "" "0000222719" "0" "70" "16" "2168723" "2168723" "del" "0" "02262" "PKD1_000797" "g.2168723del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2118722del" "" "likely pathogenic" "" "0000222795" "0" "70" "16" "2143933" "2143933" "dup" "0" "02262" "PKD1_000798" "g.2143933dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2093932dup" "" "likely pathogenic" "" "0000222796" "0" "70" "16" "2143657" "2143657" "del" "0" "02262" "PKD1_000799" "g.2143657del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2093656del" "" "likely pathogenic" "" "0000222797" "0" "70" "16" "2140422" "2140422" "del" "0" "02262" "PKD1_000800" "g.2140422del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2090421del" "" "likely pathogenic" "" "0000222799" "0" "70" "16" "2152940" "2152940" "del" "0" "02262" "PKD1_000801" "g.2152940del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2102939del" "" "likely pathogenic" "" "0000236406" "0" "70" "16" "2161427" "2161433" "del" "0" "02262" "PKD1_000803" "g.2161427_2161433del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2111426_2111432del" "" "likely pathogenic" "" "0000236407" "0" "70" "16" "2160529" "2160538" "del" "0" "02262" "PKD1_000804" "g.2160529_2160538del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110528_2110537del" "" "likely pathogenic" "" "0000236411" "0" "30" "16" "2140490" "2140499" "del" "0" "02262" "PKD1_000802" "g.2140490_2140499del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2090489_2090498del" "" "likely pathogenic" "" "0000236473" "0" "70" "16" "2159632" "2159632" "del" "0" "02262" "PKD1_000805" "g.2159632del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2109631del" "" "likely pathogenic" "" "0000236474" "0" "70" "16" "2141497" "2141507" "del" "0" "02262" "PKD1_000806" "g.2141497_2141507del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2091496_2091506del" "" "likely pathogenic" "" "0000236475" "0" "70" "16" "2140802" "2140802" "dup" "0" "02262" "PKD1_000807" "g.2140802dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2090801dup" "" "likely pathogenic" "" "0000247360" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02330" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053391A>T" "" "likely benign" "" "0000247361" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "02330" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>G" "" "likely benign" "" "0000247365" "0" "10" "16" "2138218" "2138218" "subst" "0.19978" "02330" "TSC2_000336" "g.2138218A>C" "" "" "" "PKD1(NM_001009944.3):c.*1510T>G, TSC2(NM_000548.3):c.5161-10A>C, TSC2(NM_000548.5):c.5161-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088217A>C" "" "benign" "" "0000247391" "0" "30" "16" "2112998" "2112998" "subst" "0.000477234" "02330" "TSC2_000169" "g.2112998A>G" "" "" "" "TSC2(NM_000548.5):c.1387A>G (p.I463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062997A>G" "" "likely benign" "" "0000247396" "0" "30" "16" "2127634" "2127634" "subst" "9.753E-5" "02330" "TSC2_001232" "g.2127634A>G" "" "" "" "TSC2(NM_000548.5):c.2873A>G (p.N958S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077633A>G" "" "likely benign" "" "0000248110" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "02325" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>G" "" "likely benign" "" "0000248169" "0" "50" "16" "2105523" "2105523" "subst" "0" "02325" "TSC2_002127" "g.2105523A>G" "" "" "" "TSC2(NM_000548.3):c.599+3A>G, TSC2(NM_000548.5):c.599+3A>G, TSC2(NM_001370404.1):c.599+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055522A>G" "" "VUS" "" "0000248181" "0" "10" "16" "2138218" "2138218" "subst" "0.19978" "02325" "TSC2_000336" "g.2138218A>C" "" "" "" "PKD1(NM_001009944.3):c.*1510T>G, TSC2(NM_000548.3):c.5161-10A>C, TSC2(NM_000548.5):c.5161-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088217A>C" "" "benign" "" "0000249399" "0" "30" "16" "2121839" "2121839" "subst" "0" "02325" "TSC2_003785" "g.2121839A>G" "" "" "" "TSC2(NM_000548.5):c.2001A>G (p.T667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071838A>G" "" "likely benign" "" "0000249461" "0" "30" "16" "2114403" "2114403" "subst" "2.4376E-5" "02325" "TSC2_000218" "g.2114403A>G" "" "" "" "TSC2(NM_000548.5):c.1574A>G (p.N525S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064402A>G" "" "likely benign" "" "0000249827" "0" "50" "16" "2104424" "2104424" "subst" "8.1213E-6" "02325" "TSC2_001306" "g.2104424A>G" "" "" "" "TSC2(NM_000548.5):c.464A>G (p.Y155C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054423A>G" "" "VUS" "" "0000249930" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02329" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053391A>T" "" "likely benign" "" "0000249939" "0" "30" "16" "2130325" "2130325" "subst" "0.0001549" "02329" "TSC2_001014" "g.2130325A>G" "" "" "" "TSC2(NM_000548.3):c.3557A>G (p.Y1186C), TSC2(NM_000548.5):c.3557A>G (p.Y1186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080324A>G" "" "likely benign" "" "0000250563" "0" "50" "16" "2125830" "2125830" "subst" "0" "02329" "TSC2_003845" "g.2125830A>C" "" "" "" "TSC2(NM_000548.5):c.2576A>C (p.N859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075829A>C" "" "VUS" "" "0000250884" "0" "10" "16" "2138218" "2138218" "subst" "0.19978" "02326" "TSC2_000336" "g.2138218A>C" "" "" "" "PKD1(NM_001009944.3):c.*1510T>G, TSC2(NM_000548.3):c.5161-10A>C, TSC2(NM_000548.5):c.5161-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088217A>C" "" "benign" "" "0000251164" "0" "10" "16" "2160973" "2160973" "subst" "0.0646496" "02326" "PKD1_000741" "g.2160973A>G" "" "" "" "PKD1(NM_000296.3):c.4195delinsC (p.(Trp1399Arg)), PKD1(NM_000296.4):c.4195T>C (p.W1399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110972A>G" "" "benign" "" "0000253154" "0" "10" "16" "2103392" "2103392" "subst" "0.00100189" "01943" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053391A>T" "" "benign" "" "0000253163" "0" "10" "16" "2130325" "2130325" "subst" "0.0001549" "01943" "TSC2_001014" "g.2130325A>G" "" "" "" "TSC2(NM_000548.3):c.3557A>G (p.Y1186C), TSC2(NM_000548.5):c.3557A>G (p.Y1186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080324A>G" "" "benign" "" "0000253482" "0" "10" "16" "2115576" "2115576" "subst" "2.44377E-5" "01943" "TSC2_002350" "g.2115576A>G" "" "" "" "TSC2(NM_000548.3):c.1656A>G (p.A552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065575A>G" "" "benign" "" "0000253573" "0" "10" "16" "2115628" "2115628" "subst" "0" "01943" "TSC2_002351" "g.2115628A>G" "" "" "" "TSC2(NM_000548.3):c.1708A>G (p.I570V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065627A>G" "" "benign" "" "0000253581" "0" "10" "16" "2134640" "2134640" "subst" "0" "01943" "TSC2_002384" "g.2134640A>C" "" "" "" "TSC2(NM_000548.3):c.4417A>C (p.K1473Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084639A>C" "" "benign" "" "0000253625" "0" "10" "16" "2108755" "2108755" "subst" "0.00180267" "01943" "TSC2_000160" "g.2108755A>G" "" "" "" "TSC2(NM_000548.3):c.856A>G (p.M286V), TSC2(NM_000548.5):c.856A>G (p.M286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058754A>G" "" "benign" "" "0000253658" "0" "10" "16" "2140010" "2140010" "subst" "0.187805" "01943" "PKD1_000778" "g.2140010A>G" "" "" "" "PKD1(NM_001009944.2):c.12630T>C (p.P4210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090009A>G" "" "benign" "" "0000253723" "0" "10" "16" "2138550" "2138550" "subst" "0" "01943" "TSC2_002406" "g.2138550A>T" "" "" "" "TSC2(NM_000548.3):c.5363A>T (p.Y1788F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088549A>T" "" "benign" "" "0000253890" "0" "10" "16" "2122822" "2122822" "subst" "0.0258757" "01943" "TSC2_000444" "g.2122822A>G" "" "" "" "TSC2(NM_000548.3):c.2221-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072821A>G" "" "benign" "" "0000253891" "0" "10" "16" "2127595" "2127595" "subst" "0" "01943" "TSC2_002366" "g.2127595A>C" "" "" "" "TSC2(NM_000548.3):c.2838-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>C" "" "benign" "" "0000253892" "0" "10" "16" "2129247" "2129247" "subst" "0.000822014" "01943" "TSC2_000240" "g.2129247A>G" "" "" "" "TSC2(NM_000548.3):c.3132-30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079246A>G" "" "benign" "" "0000253893" "0" "10" "16" "2135151" "2135151" "subst" "0" "01943" "TSC2_002388" "g.2135151A>G" "" "" "" "TSC2(NM_000548.3):c.4570-80A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085150A>G" "" "benign" "" "0000253894" "0" "10" "16" "2136477" "2136477" "del" "0" "01943" "TSC2_002293" "g.2136477del" "" "" "" "TSC2(NM_000548.3):c.4849+97delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086476del" "" "benign" "" "0000254100" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "01943" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077594A>G" "" "likely benign" "" "0000254334" "0" "30" "16" "2147241" "2147241" "subst" "0" "01943" "PKD1_000817" "g.2147241A>T" "" "" "" "PKD1(NM_001009944.2):c.10407T>A (p.D3469E), PKD1(NM_001009944.3):c.10407T>A (p.D3469E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2097240A>T" "" "likely benign" "" "0000255301" "0" "30" "16" "2100505" "2100505" "subst" "8.14963E-6" "01943" "TSC2_003591" "g.2100505A>G" "" "" "" "TSC2(NM_000548.3):c.225+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050504A>G" "" "likely benign" "" "0000255302" "0" "30" "16" "2129495" "2129495" "subst" "0" "01943" "TSC2_002233" "g.2129495A>G" "" "" "" "TSC2(NM_000548.3):c.3285-63A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079494A>G" "" "likely benign" "" "0000255303" "0" "30" "16" "2149780" "2149780" "subst" "0" "01943" "PKD1_000821" "g.2149780A>T" "" "" "" "PKD1(NM_001009944.2):c.9924-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2099779A>T" "" "likely benign" "" "0000255417" "0" "90" "16" "2111970" "2111970" "subst" "0" "01943" "TSC2_003602" "g.2111970A>G" "" "" "" "TSC2(NM_000548.3):c.1218A>G (p.R406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061969A>G" "" "pathogenic" "" "0000255426" "0" "90" "16" "2135265" "2135265" "subst" "0" "01943" "TSC2_002008" "g.2135265A>C" "" "" "" "TSC2(NM_000548.3):c.4604A>C (p.D1535A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085264A>C" "" "pathogenic" "" "0000255440" "0" "90" "16" "2111987" "2111987" "subst" "0" "01943" "TSC2_001092" "g.2111987A>T" "" "" "" "TSC2(NM_000548.3):c.1235A>T (p.E412V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061986A>T" "" "pathogenic" "" "0000255454" "0" "90" "16" "2107164" "2107164" "subst" "0" "01943" "TSC2_002138" "g.2107164A>C" "" "" "" "TSC2(NM_000548.3):c.833A>C (p.H278P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057163A>C" "" "pathogenic" "" "0000255465" "0" "90" "16" "2126106" "2126106" "del" "0" "01943" "TSC2_002215" "g.2126106del" "" "" "" "TSC2(NM_000548.3):c.2677delA (p.I893*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076105del" "" "pathogenic" "" "0000255468" "0" "90" "16" "2098650" "2098650" "subst" "0" "01943" "TSC2_000047" "g.2098650A>T" "" "" "" "TSC2(NM_000548.3):c.34A>T (p.K12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048649A>T" "" "pathogenic" "" "0000255477" "0" "90" "16" "2136795" "2136795" "subst" "0" "01943" "TSC2_003629" "g.2136795A>T" "" "" "" "TSC2(NM_000548.3):c.4912A>T (p.K1638*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086794A>T" "" "pathogenic" "" "0000255509" "0" "90" "16" "2098635" "2098635" "subst" "0" "01943" "TSC2_002109" "g.2098635A>T" "" "" "" "TSC2(NM_000548.3):c.19A>T (p.K7*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048634A>T" "" "pathogenic" "" "0000255553" "0" "90" "16" "2131656" "2131656" "del" "0" "01943" "TSC2_003620" "g.2131656del" "" "" "" "TSC2(NM_000548.3):c.3671delA (p.N1224Tfs*101)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081655del" "" "pathogenic" "" "0000255558" "0" "90" "16" "2136811" "2136811" "subst" "0" "01943" "TSC2_002026" "g.2136811A>G" "" "" "" "TSC2(NM_000548.3):c.4928A>G (p.N1643S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086810A>G" "" "pathogenic" "" "0000255559" "0" "90" "16" "2136835" "2136835" "subst" "0" "01943" "TSC2_000030" "g.2136835A>G" "" "" "" "TSC2(NM_000548.3):c.4952A>G (p.N1651S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086834A>G" "" "pathogenic" "" "0000255561" "0" "90" "16" "2138259" "2138259" "del" "0" "01943" "TSC2_002403" "g.2138259del" "" "" "" "TSC2(NM_000548.3):c.5192delA (p.N1731Tfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088258del" "" "pathogenic" "" "0000255583" "0" "90" "16" "2137931" "2137931" "subst" "0" "01943" "TSC2_002027" "g.2137931A>C" "" "" "" "TSC2(NM_000548.3):c.5057A>C (p.Q1686P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087930A>C" "" "pathogenic" "" "0000255586" "0" "90" "16" "2110813" "2110813" "subst" "0" "01943" "TSC2_001999" "g.2110813A>C" "" "" "" "TSC2(NM_000548.3):c.1118A>C (p.Q373P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060812A>C" "" "pathogenic" "" "0000255587" "0" "90" "16" "2114337" "2114337" "del" "0" "01943" "TSC2_002165" "g.2114337del" "" "" "" "TSC2(NM_000548.3):c.1508delA (p.Q503Rfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064336del" "" "pathogenic" "" "0000255600" "0" "90" "16" "2098752" "2098752" "subst" "0" "01943" "TSC2_000962" "g.2098752A>T" "" "" "" "TSC2(NM_000548.3):c.136A>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048751A>T" "" "pathogenic" "" "0000255622" "0" "90" "16" "2130375" "2130375" "subst" "0" "01943" "TSC2_002242" "g.2130375A>C" "" "" "" "TSC2(NM_000548.3):c.3607A>C (p.T1203P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080374A>C" "" "pathogenic" "" "0000255667" "0" "90" "16" "2120533" "2120533" "subst" "0" "01943" "TSC2_000421" "g.2120533A>G" "" "" "" "TSC2(NM_000548.3):c.1793A>G (p.Y598C), TSC2(NM_000548.5):c.1793A>G (p.Y598C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070532A>G" "" "pathogenic" "" "0000255700" "0" "90" "16" "2104295" "2104295" "subst" "0" "01943" "TSC2_002116" "g.2104295A>G" "" "" "" "TSC2(NM_000548.3):c.337-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054294A>G" "" "pathogenic" "" "0000255701" "0" "90" "16" "2104295" "2104295" "subst" "0" "01943" "TSC2_002117" "g.2104295A>T" "" "" "" "TSC2(NM_000548.3):c.337-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054294A>T" "" "pathogenic" "" "0000255702" "0" "90" "16" "2106195" "2106195" "subst" "0" "01943" "TSC2_000335" "g.2106195A>G" "" "" "" "TSC2(NM_000548.3):c.600-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056194A>G" "" "pathogenic" "" "0000255703" "0" "90" "16" "2112971" "2112971" "subst" "0" "01943" "TSC2_000310" "g.2112971A>G" "" "" "" "TSC2(NM_000548.3):c.1362-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062970A>G" "" "pathogenic" "" "0000255704" "0" "90" "16" "2114271" "2114271" "subst" "0" "01943" "TSC2_000003" "g.2114271A>G" "" "" "" "TSC2(NM_000548.3):c.1444-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064270A>G" "" "pathogenic" "" "0000255705" "0" "90" "16" "2121509" "2121509" "subst" "0" "01943" "TSC2_002184" "g.2121509A>G" "" "" "" "TSC2(NM_000548.3):c.1840-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071508A>G" "" "pathogenic" "" "0000255706" "0" "90" "16" "2122240" "2122240" "subst" "0" "01943" "TSC2_000438" "g.2122240A>G" "" "" "" "TSC2(NM_000548.3):c.2098-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072239A>G" "" "pathogenic" "" "0000255707" "0" "90" "16" "2122848" "2122848" "subst" "0" "01943" "TSC2_000446" "g.2122848A>G" "" "" "" "TSC2(NM_000548.3):c.2221-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072847A>G" "" "pathogenic" "" "0000255708" "0" "90" "16" "2124199" "2124199" "subst" "0" "01943" "TSC2_000203" "g.2124199A>C" "" "" "" "TSC2(NM_000548.3):c.2356-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074198A>C" "" "pathogenic" "" "0000255709" "0" "90" "16" "2126490" "2126490" "subst" "0" "01943" "TSC2_000482" "g.2126490A>G" "" "" "" "TSC2(NM_000548.3):c.2743-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076489A>G" "" "pathogenic" "" "0000255710" "0" "90" "16" "2134227" "2134227" "subst" "0" "01943" "TSC2_002254" "g.2134227A>G" "" "" "" "TSC2(NM_000548.3):c.4006-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084226A>G" "" "pathogenic" "" "0000255711" "0" "90" "16" "2134950" "2134950" "subst" "0" "01943" "TSC2_002386" "g.2134950A>C" "" "" "" "TSC2(NM_000548.3):c.4494-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084949A>C" "" "pathogenic" "" "0000255712" "0" "90" "16" "2136731" "2136731" "subst" "0" "01943" "TSC2_002295" "g.2136731A>G" "" "" "" "TSC2(NM_000548.3):c.4850-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086730A>G" "" "pathogenic" "" "0000255713" "0" "90" "16" "2138047" "2138047" "subst" "0" "01943" "TSC2_000006" "g.2138047A>G" "" "" "" "TSC2(NM_000548.3):c.5069-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088046A>G" "" "pathogenic" "" "0000255807" "0" "50" "16" "2105523" "2105523" "subst" "0" "01943" "TSC2_002127" "g.2105523A>G" "" "" "" "TSC2(NM_000548.3):c.599+3A>G, TSC2(NM_000548.5):c.599+3A>G, TSC2(NM_001370404.1):c.599+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055522A>G" "" "VUS" "" "0000256168" "0" "50" "16" "2110747" "2110747" "subst" "4.06197E-6" "01943" "TSC2_001318" "g.2110747A>G" "" "" "" "TSC2(NM_000548.3):c.1052A>G (p.K351R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060746A>G" "" "VUS" "" "0000256204" "0" "50" "16" "2126583" "2126583" "subst" "0" "01943" "TSC2_003874" "g.2126583A>G" "" "" "" "TSC2(NM_000548.3):c.2834A>G (p.K945R, p.(Lys945Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076582A>G" "" "VUS" "" "0000256718" "0" "50" "16" "2112953" "2112953" "subst" "0" "01943" "TSC2_001322" "g.2112953A>G" "" "" "" "TSC2(NM_000548.3):c.1362-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062952A>G" "" "VUS" "" "0000256719" "0" "50" "16" "2122367" "2122367" "subst" "0" "01943" "TSC2_002202" "g.2122367A>C" "" "" "" "TSC2(NM_000548.3):c.2220+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072366A>C" "" "VUS" "" "0000293267" "0" "30" "16" "2097861" "2097861" "subst" "8.50221E-5" "02330" "NTHL1_000257" "g.2097861T>C" "" "" "" "NTHL1(NM_002528.7):c.-37A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047860T>C" "" "likely benign" "" "0000293269" "0" "10" "16" "2097712" "2097712" "subst" "0.000763196" "02330" "NTHL1_000231" "g.2097712G>A" "" "" "" "NTHL1(NM_002528.7):c.113C>T (p.A38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047711G>A" "" "benign" "" "0000293270" "0" "10" "16" "2097693" "2097693" "subst" "0.000348517" "02330" "NTHL1_000255" "g.2097693C>T" "" "" "" "NTHL1(NM_002528.7):c.115+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047692C>T" "" "benign" "" "0000293271" "0" "10" "16" "2096384" "2096384" "subst" "0.0026114" "02330" "NTHL1_000008" "g.2096384G>A" "" "" "" "NTHL1(NM_002528.7):c.116-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046383G>A" "" "benign" "" "0000293272" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02330" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000293273" "0" "30" "16" "2093743" "2093743" "subst" "2.05866E-5" "02330" "NTHL1_000004" "g.2093743G>C" "" "" "" "NTHL1(NM_002528.7):c.526-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2043742G>C" "" "likely benign" "" "0000293780" "0" "10" "16" "2138584" "2138584" "subst" "0.0733337" "02330" "TSC2_000002" "g.2138584G>C" "" "" "" "PKD1(NM_001009944.3):c.*1144C>G, TSC2(NM_000548.3):c.5397G>C (p.S1799=), TSC2(NM_000548.5):c.5397G>C (p.S1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088583G>C" "" "benign" "" "0000293781" "0" "10" "16" "2138546" "2138546" "subst" "0.0022029" "02330" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088545G>A" "" "benign" "" "0000293782" "0" "30" "16" "2138533" "2138533" "subst" "4.89736E-5" "02330" "TSC2_004201" "g.2138533C>T" "" "" "" "PKD1(NM_001009944.3):c.*1195G>A, TSC2(NM_000548.5):c.5346C>T (p.A1782=), TSC2(NM_001114382.2):c.5277C>T (p.A1759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088532C>T" "" "likely benign" "" "0000293783" "0" "30" "16" "2138495" "2138495" "subst" "2.03553E-5" "02330" "TSC2_003255" "g.2138495C>T" "" "" "" "PKD1(NM_001009944.3):c.*1233G>A, TSC2(NM_000548.5):c.5308C>T (p.P1770S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088494C>T" "" "likely benign" "" "0000293784" "0" "30" "16" "2138432" "2138432" "subst" "0.00153203" "02330" "TSC2_000338" "g.2138432C>T" "" "" "" "PKD1(NM_001009944.3):c.*1296G>A, TSC2(NM_000548.3):c.5260-15C>T, TSC2(NM_000548.5):c.5260-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088431C>T" "" "likely benign" "" "0000293785" "0" "10" "16" "2138269" "2138269" "subst" "0.178282" "02330" "TSC2_000001" "g.2138269T>C" "" "" "" "PKD1(NM_001009944.3):c.*1459A>G, TSC2(NM_000548.3):c.5202T>C (p.D1734=), TSC2(NM_000548.5):c.5202T>C (p.D1734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088268T>C" "" "benign" "" "0000293786" "0" "30" "16" "2138097" "2138097" "subst" "7.32625E-5" "02330" "TSC2_000944" "g.2138097G>A" "" "" "" "PKD1(NM_001009944.3):c.*1631C>T, TSC2(NM_000548.5):c.5117G>A (p.R1706H), TSC2(NM_001114382.2):c.5048G>A (p.R1683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088096G>A" "" "likely benign" "" "0000293787" "0" "30" "16" "2137969" "2138002" "del" "0" "02330" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "likely benign" "" "0000296987" "0" "50" "16" "2138252" "2138252" "subst" "9.7588E-5" "02325" "TSC2_000659" "g.2138252C>T" "" "" "" "PKD1(NM_001009944.3):c.*1476G>A, TSC2(NM_000548.5):c.5185C>T (p.R1729C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088251C>T" "" "VUS" "" "0000296988" "0" "10" "16" "2167874" "2167874" "subst" "0.896737" "02325" "PKD1_000859" "g.2167874G>A" "" "" "" "PKD1(NM_001009944.2):c.1119C>T (p.L373=), PKD1(NM_001009944.3):c.1119C>T (p.L373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2117873G>A" "" "benign" "" "0000296989" "0" "10" "16" "2164808" "2164808" "subst" "0.975034" "02325" "PKD1_000855" "g.2164808C>T" "" "" "" "PKD1(NM_001009944.2):c.2216G>A (p.R739Q), PKD1(NM_001009944.3):c.2216G>A (p.R739Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2114807C>T" "" "benign" "" "0000298878" "0" "50" "16" "2139814" "2139814" "subst" "0.00377645" "02329" "PKD1_001189" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2089813G>A" "" "VUS" "" "0000300795" "0" "10" "16" "2147500" "2147500" "subst" "0.0104089" "02326" "PKD1_000819" "g.2147500C>G" "" "" "" "PKD1(NM_000296.3):c.10222G>C (p.(Val3408Leu)), PKD1(NM_001009944.2):c.10225G>C (p.V3409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2097499C>G" "" "benign" "" "0000300796" "0" "10" "16" "2142113" "2142113" "subst" "0.00470186" "02326" "PKD1_000815" "g.2142113G>A" "" "" "" "PKD1(NM_000296.3):c.11343C>T (p.(Asp3781=)), PKD1(NM_000296.4):c.11343C>T (p.D3781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2092112G>A" "" "benign" "" "0000300798" "0" "90" "16" "2141583" "2141583" "del" "0" "02326" "PKD1_000767" "g.2141583del" "" "" "" "PKD1(NM_001009944.2):c.11554delC (p.L3852Wfs*93)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091582del" "" "pathogenic" "" "0000300799" "0" "10" "16" "2167831" "2167831" "subst" "0.000113849" "02326" "PKD1_000858" "g.2167831C>T" "" "" "" "PKD1(NM_001009944.2):c.1162G>A (p.A388T), PKD1(NM_001009944.3):c.1162G>A (p.(Ala388Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2117830C>T" "" "benign" "" "0000300801" "0" "10" "16" "2141171" "2141171" "subst" "0.00106505" "02326" "PKD1_000812" "g.2141171C>A" "" "" "" "PKD1(NM_000296.3):c.11714G>T (p.(Cys3905Phe)), PKD1(NM_001009944.2):c.11717G>T (p.C3906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091170C>A" "" "benign" "" "0000300802" "0" "90" "16" "2140431" "2140431" "del" "0" "02326" "PKD1_000809" "g.2140431del" "" "" "" "PKD1(NM_000296.4):c.12297delG (p.L4100Wfs*97)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090430del" "" "pathogenic" "" "0000300803" "0" "30" "16" "2140321" "2140321" "subst" "0.0666581" "02326" "PKD1_000779" "g.2140321G>A" "" "" "" "PKD1(NM_000296.4):c.12406C>T (p.L4136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090320G>A" "" "likely benign" "" "0000300804" "0" "10" "16" "2140294" "2140294" "subst" "0.0045433" "02326" "PKD1_000530" "g.2140294C>T" "" "" "" "PKD1(NM_000296.3):c.12433G>A (p.(Val4145Ile)), PKD1(NM_000296.4):c.12433G>A (p.V4145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090293C>T" "" "benign" "" "0000300805" "0" "10" "16" "2164808" "2164808" "subst" "0.975034" "02326" "PKD1_000855" "g.2164808C>T" "" "" "" "PKD1(NM_001009944.2):c.2216G>A (p.R739Q), PKD1(NM_001009944.3):c.2216G>A (p.R739Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2114807C>T" "" "benign" "" "0000300806" "0" "10" "16" "2164324" "2164324" "subst" "0.0552375" "02326" "PKD1_000751" "g.2164324C>T" "" "" "" "PKD1(NM_000296.4):c.2700G>A (p.P900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2114323C>T" "" "benign" "" "0000300807" "0" "10" "16" "2163298" "2163298" "subst" "0.00855555" "02326" "PKD1_000854" "g.2163298G>A" "" "" "" "PKD1(NM_000296.3):c.2854-5C>T (p.?), PKD1(NM_001009944.2):c.2854-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2113297G>A" "" "benign" "" "0000300808" "0" "10" "16" "2162849" "2162849" "subst" "0.00144656" "02326" "PKD1_000853" "g.2162849T>C" "" "" "" "PKD1(NM_000296.4):c.3101A>G (p.N1034S), PKD1(NM_001009944.2):c.3101A>G (p.(Asn1034Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2112848T>C" "" "benign" "" "0000300809" "0" "10" "16" "2161887" "2161887" "subst" "0.00293832" "02326" "PKD1_000852" "g.2161887C>T" "" "" "" "PKD1(NM_000296.3):c.3296-15G>A (p.(=)), PKD1(NM_001009944.2):c.3296-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111886C>T" "" "benign" "" "0000300810" "0" "30" "16" "2161150" "2161150" "subst" "0.00255814" "02326" "PKD1_000204" "g.2161150G>A" "" "" "" "PKD1(NM_000296.3):c.4018C>T (p.(Arg1340Trp)), PKD1(NM_000296.4):c.4018C>T (p.R1340W), PKD1(NM_001009944.2):c.4018C>T (p.R1340W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111149G>A" "" "likely benign" "" "0000300811" "0" "10" "16" "2160898" "2160898" "subst" "0.00016743" "02326" "PKD1_000847" "g.2160898T>C" "" "" "" "PKD1(NM_001009944.2):c.4270A>G (p.T1424A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110897T>C" "" "benign" "" "0000300812" "0" "90" "16" "2168779" "2168779" "subst" "0" "02326" "PKD1_000861" "g.2168779G>A" "" "" "" "PKD1(NM_001009944.2):c.427C>T (p.Q143*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2118778G>A" "" "pathogenic" "" "0000300813" "0" "10" "16" "2160673" "2160673" "subst" "0.00265265" "02326" "PKD1_000846" "g.2160673G>A" "" "" "" "PKD1(NM_000296.3):c.4495C>T (p.(Leu1499=)), PKD1(NM_001009944.2):c.4495C>T (p.L1499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110672G>A" "" "benign" "" "0000300814" "0" "10" "16" "2160622" "2160622" "subst" "0.00587533" "02326" "PKD1_000845" "g.2160622C>T" "" "" "" "PKD1(NM_000296.3):c.4546G>A (p.(Ala1516Thr)), PKD1(NM_001009944.2):c.4546G>A (p.A1516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110621C>T" "" "benign" "" "0000300815" "0" "10" "16" "2160323" "2160323" "subst" "0.00306431" "02326" "PKD1_000842" "g.2160323G>A" "" "" "" "PKD1(NM_000296.3):c.4845C>T (p.(Asn1615=)), PKD1(NM_001009944.2):c.4845C>T (p.N1615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110322G>A" "" "benign" "" "0000300816" "0" "10" "16" "2159850" "2159850" "subst" "0.00228715" "02326" "PKD1_000841" "g.2159850G>A" "" "" "" "PKD1(NM_001009944.2):c.5318C>T (p.T1773I, p.(Thr1773Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109849G>A" "" "benign" "" "0000300817" "0" "10" "16" "2159557" "2159557" "subst" "0.00423894" "02326" "PKD1_000838" "g.2159557C>T" "" "" "" "PKD1(NM_000296.3):c.5611G>A (p.(Ala1871Thr)), PKD1(NM_000296.4):c.5611G>A (p.A1871T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109556C>T" "" "benign" "" "0000300818" "0" "30" "16" "2159385" "2159385" "subst" "0.000375628" "02326" "PKD1_000649" "g.2159385G>C" "" "" "" "PKD1(NM_000296.3):c.5783C>G (p.(Pro1928Arg)), PKD1(NM_001009944.2):c.5783C>G (p.P1928R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109384G>C" "" "likely benign" "" "0000300819" "0" "30" "16" "2158680" "2158680" "subst" "0.0022994" "02326" "PKD1_000730" "g.2158680C>T" "" "" "" "PKD1(NM_000296.3):c.6488G>A (p.(Arg2163Gln)), PKD1(NM_000296.4):c.6488G>A (p.R2163Q), PKD1(NM_001009944.2):c.6488G>A (p.R2163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108679C>T" "" "likely benign" "" "0000300820" "0" "10" "16" "2158503" "2158503" "subst" "0.000662326" "02326" "PKD1_000833" "g.2158503G>A" "" "" "" "PKD1(NM_001009944.2):c.6665C>T (p.A2222V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108502G>A" "" "benign" "" "0000300821" "0" "30" "16" "2158286" "2158286" "subst" "0.000199714" "02326" "PKD1_000832" "g.2158286G>A" "" "" "" "PKD1(NM_001009944.2):c.6882C>T (p.L2294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108285G>A" "" "likely benign" "" "0000300822" "0" "90" "16" "2156249" "2156249" "subst" "0" "02326" "PKD1_000292" "g.2156249G>A" "" "" "" "PKD1(NM_001009944.2):c.7546C>T (p.(Arg2516Cys), p.R2516C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2106248G>A" "" "pathogenic" "" "0000300823" "0" "10" "16" "2154640" "2154640" "subst" "0.00921845" "02326" "PKD1_000721" "g.2154640G>A" "" "" "" "PKD1(NM_000296.3):c.8020C>T (p.(Pro2674Ser)), PKD1(NM_001009944.2):c.8020C>T (p.P2674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2104639G>A" "" "benign" "" "0000300824" "0" "10" "16" "2154537" "2154537" "subst" "0.00960525" "02326" "PKD1_000720" "g.2154537G>A" "" "" "" "PKD1(NM_000296.3):c.8123C>T (p.(Thr2708Met)), PKD1(NM_001009944.2):c.8123C>T (p.T2708M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2104536G>A" "" "benign" "" "0000300825" "0" "30" "16" "2154494" "2154494" "subst" "0.000164892" "02326" "PKD1_000827" "g.2154494G>A" "" "" "" "PKD1(NM_001009944.2):c.8161+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2104493G>A" "" "likely benign" "" "0000300826" "0" "10" "16" "2153858" "2153858" "subst" "0.000683219" "02326" "PKD1_000826" "g.2153858G>T" "" "" "" "PKD1(NM_001009944.2):c.8200C>A (p.P2734T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2103857G>T" "" "benign" "" "0000300827" "0" "10" "16" "2153854" "2153854" "subst" "0.000679855" "02326" "PKD1_000825" "g.2153854T>A" "" "" "" "PKD1(NM_001009944.2):c.8204A>T (p.Q2735L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2103853T>A" "" "benign" "" "0000300828" "0" "10" "16" "2153618" "2153618" "subst" "0.00621509" "02326" "PKD1_000718" "g.2153618C>T" "" "" "" "PKD1(NM_000296.3):c.8440G>A (p.(Gly2814Arg)), PKD1(NM_001009944.2):c.8440G>A (p.G2814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2103617C>T" "" "benign" "" "0000304654" "0" "50" "16" "2096209" "2096209" "subst" "0.000934762" "01943" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046208G>A" "" "VUS" "" "0000305703" "0" "30" "16" "2147325" "2147325" "subst" "0.000361135" "01943" "PKD1_000818" "g.2147325G>A" "" "" "" "PKD1(NM_001009944.2):c.10400C>T (p.A3467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2097324G>A" "" "likely benign" "" "0000305704" "0" "50" "16" "2143883" "2143883" "subst" "0" "01943" "PKD1_000816" "g.2143883C>T" "" "" "" "PKD1(NM_001009944.2):c.10750G>A (p.V3584M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2093882C>T" "" "VUS" "" "0000305705" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "01943" "PKD1_000567" "g.2141018C>T" "" "" "" "PKD1(NM_001009944.2):c.11870G>A (p.G3957D, p.(Gly3957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091017C>T" "" "likely benign" "" "0000305706" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "01943" "PKD1_000810" "g.2140912G>C" "" "" "" "PKD1(NM_000296.3):c.11973C>G (p.(Ala3991=)), PKD1(NM_001009944.2):c.11976C>G (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090911G>C" "" "likely benign" "" "0000305707" "0" "30" "16" "2167673" "2167673" "subst" "0.000421215" "01943" "PKD1_000857" "g.2167673G>A" "" "" "" "PKD1(NM_001009944.2):c.1202C>T (p.A401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2117672G>A" "" "likely benign" "" "0000305708" "0" "10" "16" "2139814" "2139814" "subst" "0.00377645" "01943" "PKD1_001189" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2089813G>A" "" "benign" "" "0000305709" "0" "50" "16" "2167580" "2167580" "subst" "0" "01943" "PKD1_000404" "g.2167580G>A" "" "" "" "PKD1(NM_001009944.2):c.1295C>T (p.A432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2117579G>A" "" "VUS" "" "0000305710" "0" "30" "16" "2165480" "2165480" "subst" "0" "01943" "PKD1_000856" "g.2165480C>T" "" "" "" "PKD1(NM_001009944.2):c.1996G>A (p.A666T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2115479C>T" "" "likely benign" "" "0000305711" "0" "30" "16" "2161688" "2161688" "subst" "0.000203758" "01943" "PKD1_000851" "g.2161688C>A" "" "" "" "PKD1(NM_001009944.2):c.3480G>T (p.T1160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111687C>A" "" "likely benign" "" "0000305712" "0" "30" "16" "2161673" "2161673" "subst" "0.000362024" "01943" "PKD1_000850" "g.2161673G>A" "" "" "" "PKD1(NM_000296.3):c.3495C>T (p.(Asp1165=)), PKD1(NM_001009944.2):c.3495C>T (p.D1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111672G>A" "" "likely benign" "" "0000305713" "0" "30" "16" "2161599" "2161599" "subst" "3.44527E-5" "01943" "PKD1_000849" "g.2161599C>T" "" "" "" "PKD1(NM_000296.3):c.3569G>A (p.(Arg1190His)), PKD1(NM_001009944.2):c.3569G>A (p.R1190H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111598C>T" "" "likely benign" "" "0000305714" "0" "30" "16" "2161371" "2161371" "subst" "2.10793E-5" "01943" "PKD1_000848" "g.2161371C>T" "" "" "" "PKD1(NM_001009944.2):c.3797G>A (p.R1266Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111370C>T" "" "likely benign" "" "0000305715" "0" "30" "16" "2160904" "2160904" "subst" "0.00592388" "01943" "PKD1_000662" "g.2160904C>T" "" "" "" "PKD1(NM_000296.3):c.4264G>A (p.(Ala1422Thr)), PKD1(NM_001009944.2):c.4264G>A (p.A1422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110903C>T" "" "likely benign" "" "0000305716" "0" "30" "16" "2160622" "2160622" "subst" "0.00587533" "01943" "PKD1_000845" "g.2160622C>T" "" "" "" "PKD1(NM_000296.3):c.4546G>A (p.(Ala1516Thr)), PKD1(NM_001009944.2):c.4546G>A (p.A1516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110621C>T" "" "likely benign" "" "0000305717" "0" "50" "16" "2160514" "2160516" "del" "0" "01943" "PKD1_000844" "g.2160514_2160516del" "" "" "" "PKD1(NM_000296.3):c.4657_4659del (p.(Val1553del)), PKD1(NM_001009944.2):c.4657_4659delGTC (p.V1553del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110513_2110515del" "" "VUS" "" "0000305718" "0" "50" "16" "2160409" "2160409" "subst" "0.000155118" "01943" "PKD1_000843" "g.2160409G>A" "" "" "" "PKD1(NM_000296.3):c.4759C>T (p.(Arg1587Cys)), PKD1(NM_001009944.2):c.4759C>T (p.R1587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110408G>A" "" "VUS" "" "0000305719" "0" "10" "16" "2159850" "2159850" "subst" "0.00228715" "01943" "PKD1_000841" "g.2159850G>A" "" "" "" "PKD1(NM_001009944.2):c.5318C>T (p.T1773I, p.(Thr1773Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109849G>A" "" "benign" "" "0000305720" "0" "50" "16" "2159738" "2159738" "subst" "3.38201E-5" "01943" "PKD1_000840" "g.2159738G>A" "" "" "" "PKD1(NM_001009944.2):c.5430C>T (p.S1810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109737G>A" "" "VUS" "" "0000305721" "0" "30" "16" "2159732" "2159732" "subst" "4.22176E-5" "01943" "PKD1_000839" "g.2159732G>C" "" "" "" "PKD1(NM_001009944.2):c.5436C>G (p.P1812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109731G>C" "" "likely benign" "" "0000305722" "0" "10" "16" "2159486" "2159486" "subst" "0.00440096" "01943" "PKD1_000837" "g.2159486G>A" "" "" "" "PKD1(NM_000296.3):c.5682C>T (p.(Ala1894=)), PKD1(NM_001009944.2):c.5682C>T (p.A1894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109485G>A" "" "benign" "" "0000305723" "0" "50" "16" "2159286" "2159286" "subst" "0.000142421" "01943" "PKD1_000836" "g.2159286G>A" "" "" "" "PKD1(NM_001009944.2):c.5882C>T (p.A1961V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109285G>A" "" "VUS" "" "0000305724" "0" "30" "16" "2159272" "2159272" "subst" "3.55003E-5" "01943" "PKD1_000647" "g.2159272C>T" "" "" "" "PKD1(NM_000296.3):c.5896G>A (p.(Val1966Met)), PKD1(NM_001009944.2):c.5896G>A (p.V1966M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109271C>T" "" "likely benign" "" "0000305725" "0" "10" "16" "2168390" "2168390" "subst" "0.00115561" "01943" "PKD1_000860" "g.2168390G>A" "" "" "" "PKD1(NM_000296.3):c.603C>T (p.(His201=)), PKD1(NM_001009944.2):c.603C>T (p.H201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2118389G>A" "" "benign" "" "0000305726" "0" "10" "16" "2159090" "2159090" "subst" "0.00193916" "01943" "PKD1_000835" "g.2159090G>A" "" "" "" "PKD1(NM_001009944.2):c.6078C>T (p.V2026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2109089G>A" "" "benign" "" "0000305727" "0" "10" "16" "2158837" "2158837" "subst" "0.00091047" "01943" "PKD1_000834" "g.2158837C>T" "" "" "" "PKD1(NM_001009944.2):c.6331G>A (p.E2111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108836C>T" "" "benign" "" "0000305728" "0" "10" "16" "2158623" "2158623" "subst" "0.00112365" "01943" "PKD1_000296" "g.2158623T>C" "" "" "" "PKD1(NM_000296.3):c.6545A>G (p.(Gln2182Arg)), PKD1(NM_001009944.2):c.6545A>G (p.Q2182R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108622T>C" "" "benign" "" "0000305729" "0" "30" "16" "2158286" "2158286" "subst" "0.000199714" "01943" "PKD1_000832" "g.2158286G>A" "" "" "" "PKD1(NM_001009944.2):c.6882C>T (p.L2294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108285G>A" "" "likely benign" "" "0000305730" "0" "50" "16" "2156482" "2156482" "subst" "6.85569E-5" "01943" "PKD1_000831" "g.2156482C>T" "" "" "" "PKD1(NM_001009944.2):c.7406G>A (p.R2469H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2106481C>T" "" "VUS" "" "0000305731" "0" "30" "16" "2156112" "2156112" "subst" "0.000474751" "01943" "PKD1_000830" "g.2156112G>A" "" "" "" "PKD1(NM_001009944.2):c.7683C>T (p.A2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2106111G>A" "" "likely benign" "" "0000305732" "0" "50" "16" "2155432" "2155432" "subst" "3.95462E-5" "01943" "PKD1_000829" "g.2155432C>T" "" "" "" "PKD1(NM_001009944.2):c.7907G>A (p.R2636Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2105431C>T" "" "VUS" "" "0000305733" "0" "30" "16" "2154560" "2154560" "subst" "8.81612E-5" "01943" "PKD1_000828" "g.2154560T>C" "" "" "" "PKD1(NM_001009944.2):c.8100A>G (p.A2700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2104559T>C" "" "likely benign" "" "0000305734" "0" "30" "16" "2153846" "2153846" "subst" "0" "01943" "PKD1_000824" "g.2153846C>G" "" "" "" "PKD1(NM_001009944.2):c.8212G>C (p.E2738Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2103845C>G" "" "likely benign" "" "0000305735" "0" "30" "16" "2153387" "2153387" "subst" "0.0002627" "01943" "PKD1_000823" "g.2153387C>T" "" "" "" "PKD1(NM_000296.3):c.8671G>A (p.(Ala2891Thr)), PKD1(NM_001009944.2):c.8671G>A (p.A2891T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2103386C>T" "" "likely benign" "" "0000305736" "0" "30" "16" "2153369" "2153369" "subst" "0.000313523" "01943" "PKD1_000822" "g.2153369C>T" "" "" "" "PKD1(NM_001009944.2):c.8689G>A (p.V2897I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2103368C>T" "" "likely benign" "" "0000305737" "0" "50" "16" "2152396" "2152396" "subst" "0.000224276" "01943" "PKD1_000715" "g.2152396G>A" "" "" "" "PKD1(NM_000296.3):c.9187C>T (p.(Arg3063Cys)), PKD1(NM_001009944.2):c.9187C>T (p.R3063C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2102395G>A" "" "VUS" "" "0000305738" "0" "30" "16" "2149738" "2149738" "subst" "0.00341381" "01943" "PKD1_000771" "g.2149738G>A" "" "" "" "PKD1(NM_000296.3):c.9957C>T (p.(Ser3319=)), PKD1(NM_001009944.2):c.9957C>T (p.S3319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2099737G>A" "" "likely benign" "" "0000305739" "0" "30" "16" "2149696" "2149696" "subst" "0" "01943" "PKD1_000820" "g.2149696G>A" "" "" "" "PKD1(NM_001009944.2):c.9999C>T (p.V3333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2099695G>A" "" "likely benign" "" "0000309631" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "02330" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000309632" "0" "10" "16" "2110805" "2110805" "subst" "0.0100457" "02330" "TSC2_000164" "g.2110805G>A" "" "" "" "TSC2(NM_000548.3):c.1110G>A (p.Q370=), TSC2(NM_000548.5):c.1110G>A (p.Q370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060804G>A" "" "benign" "" "0000309633" "0" "30" "16" "2111895" "2111895" "subst" "0.000324971" "02330" "TSC2_000124" "g.2111895G>A" "" "" "" "TSC2(NM_000548.3):c.1143G>A (p.(Arg381=)), TSC2(NM_000548.5):c.1143G>A (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061894G>A" "" "likely benign" "" "0000309634" "0" "10" "16" "2112516" "2112516" "subst" "0.00118043" "02330" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062515C>T" "" "benign" "" "0000309635" "0" "30" "16" "2112521" "2112521" "subst" "0.00171838" "02330" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>A" "" "likely benign" "" "0000309636" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "02330" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062557G>A" "" "likely benign" "" "0000309637" "0" "10" "16" "2114372" "2114372" "subst" "0.00193365" "02330" "TSC2_002346" "g.2114372C>T" "" "" "" "TSC2(NM_000548.3):c.1543C>T (p.L515=), TSC2(NM_000548.5):c.1543C>T (p.L515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064371C>T" "" "benign" "" "0000309638" "0" "10" "16" "2114407" "2114407" "subst" "0.0574263" "02330" "TSC2_000005" "g.2114407C>T" "" "" "" "TSC2(NM_000548.3):c.1578C>T (p.S526=), TSC2(NM_000548.5):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064406C>T" "" "benign" "" "0000309639" "0" "10" "16" "2115506" "2115506" "subst" "0.0568299" "02330" "TSC2_000176" "g.2115506C>T" "" "" "" "TSC2(NM_000548.3):c.1600-14C>T, TSC2(NM_000548.5):c.1600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065505C>T" "" "benign" "" "0000309640" "0" "30" "16" "2120585" "2120585" "subst" "0.000432311" "02330" "TSC2_000425" "g.2120585G>A" "" "" "" "TSC2(NM_000548.3):c.1839+6G>A, TSC2(NM_000548.5):c.1839+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070584G>A" "" "likely benign" "" "0000309641" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "02330" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "benign" "" "0000309642" "0" "30" "16" "2122860" "2122860" "subst" "0" "02330" "TSC2_002682" "g.2122860C>G" "" "" "" "TSC2(NM_000548.5):c.2231C>G (p.P744R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072859C>G" "" "likely benign" "" "0000309643" "0" "10" "16" "2103345" "2103345" "subst" "0.00332754" "02330" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053344C>T" "" "benign" "" "0000309644" "0" "30" "16" "2124321" "2124321" "subst" "0.000663497" "02330" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074320C>A" "" "likely benign" "" "0000309645" "0" "10" "16" "2125788" "2125788" "subst" "0.0948179" "02330" "TSC2_000312" "g.2125788C>T" "" "" "" "TSC2(NM_000548.3):c.2546-12C>T, TSC2(NM_000548.5):c.2546-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075787C>T" "" "benign" "" "0000309646" "0" "30" "16" "2103372" "2103372" "subst" "0.0011761" "02330" "TSC2_000074" "g.2103372C>T" "" "" "" "TSC2(NM_000548.3):c.255C>T (p.(Val85=)), TSC2(NM_000548.5):c.255C>T (p.V85=), TSC2(NM_001114382.2):c.255C>T (p.V85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053371C>T" "" "likely benign" "" "0000309647" "0" "10" "16" "2125834" "2125834" "subst" "0.0703171" "02330" "TSC2_000054" "g.2125834T>C" "" "" "" "TSC2(NM_000548.3):c.2580T>C (p.F860=), TSC2(NM_000548.5):c.2580T>C (p.F860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075833T>C" "" "benign" "" "0000309648" "0" "30" "16" "2129045" "2129045" "subst" "0.000863178" "02330" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079044G>A" "" "likely benign" "" "0000309649" "0" "10" "16" "2103417" "2103417" "subst" "0.000133896" "02330" "TSC2_000038" "g.2103417G>A" "" "" "" "TSC2(NM_000548.5):c.300G>A (p.A100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053416G>A" "" "benign" "" "0000309650" "0" "30" "16" "2129103" "2129103" "subst" "4.06765E-6" "02330" "TSC2_000701" "g.2129103G>A" "" "" "" "TSC2(NM_000548.5):c.3037G>A (p.D1013N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079102G>A" "" "likely benign" "" "0000309651" "0" "10" "16" "2130190" "2130190" "subst" "0.00137166" "02330" "TSC2_000515" "g.2130190C>T" "" "" "" "TSC2(NM_000548.3):c.3422C>T (p.A1141V), TSC2(NM_000548.5):c.3422C>T (p.A1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080189C>T" "" "benign" "" "0000309652" "0" "30" "16" "2130198" "2130198" "subst" "0.00024421" "02330" "TSC2_001198" "g.2130198G>A" "" "" "" "TSC2(NM_000548.3):c.3430G>A (p.V1144M, p.(Val1144Met)), TSC2(NM_000548.5):c.3430G>A (p.V1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080197G>A" "" "likely benign" "" "0000309653" "0" "30" "16" "2130259" "2130259" "subst" "0.000134333" "02330" "TSC2_000519" "g.2130259C>T" "" "" "" "TSC2(NM_000548.3):c.3491C>T (p.A1164V), TSC2(NM_000548.5):c.3491C>T (p.A1164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080258C>T" "" "likely benign" "" "0000309654" "0" "30" "16" "2130368" "2130368" "subst" "1.23132E-5" "02330" "TSC2_003177" "g.2130368G>A" "" "" "" "TSC2(NM_000548.5):c.3600G>A (p.R1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080367G>A" "" "likely benign" "" "0000309655" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "02330" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080386C>T" "" "likely benign" "" "0000309656" "0" "30" "16" "2131732" "2131732" "subst" "9.77891E-5" "02330" "TSC2_003965" "g.2131732G>A" "" "" "" "TSC2(NM_000548.5):c.3747G>A (p.L1249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081731G>A" "" "likely benign" "" "0000309657" "0" "30" "16" "2133701" "2133701" "subst" "0.00281981" "02330" "TSC2_000542" "g.2133701G>A" "" "" "" "TSC2(NM_000548.3):c.3889G>A (p.(Ala1297Thr)), TSC2(NM_000548.5):c.3889G>A (p.A1297T), TSC2(NM_001370404.1):c.3757G>A (p.A1253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083700G>A" "" "likely benign" "" "0000309658" "0" "10" "16" "2133726" "2133726" "subst" "0.0018471" "02330" "TSC2_000543" "g.2133726C>T" "" "" "" "TSC2(NM_000548.5):c.3914C>T (p.P1305L), TSC2(NM_001114382.2):c.3845C>T (p.P1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083725C>T" "" "benign" "" "0000309659" "0" "10" "16" "2133727" "2133727" "subst" "0.00475155" "02330" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083726G>A" "" "benign" "" "0000309660" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "02330" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083797G>A" "" "benign" "" "0000309661" "0" "10" "16" "2134221" "2134221" "subst" "0.00247118" "02330" "TSC2_000917" "g.2134221C>T" "" "" "" "TSC2(NM_000548.3):c.4006-8C>T, TSC2(NM_000548.5):c.4006-8C>T, TSC2(NM_001114382.2):c.3937-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084220C>T" "" "benign" "" "0000309662" "0" "30" "16" "2134313" "2134313" "subst" "0" "02330" "TSC2_003999" "g.2134313T>A" "" "" "" "TSC2(NM_000548.5):c.4090T>A (p.S1364T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084312T>A" "" "likely benign" "" "0000309663" "0" "10" "16" "2134438" "2134438" "subst" "0.00890403" "02330" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084437C>T" "" "benign" "" "0000309664" "0" "10" "16" "2134492" "2134492" "subst" "0.00269103" "02330" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "benign" "" "0000309665" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "02330" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084507G>T" "" "benign" "" "0000309666" "0" "10" "16" "2134985" "2134987" "del" "0" "02330" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084984_2084986del" "" "benign" "" "0000309667" "0" "10" "16" "2134994" "2134994" "subst" "0.00313367" "02330" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084993C>T" "" "benign" "" "0000309668" "0" "10" "16" "2105400" "2105400" "subst" "0.0871488" "02330" "TSC2_000156" "g.2105400C>T" "" "" "" "TSC2(NM_000548.3):c.482-3C>T, TSC2(NM_000548.5):c.482-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055399C>T" "" "benign" "" "0000309669" "0" "10" "16" "2136794" "2136794" "subst" "0.000854337" "02330" "TSC2_000028" "g.2136794G>A" "" "" "" "TSC2(NM_000548.5):c.4911G>A (p.K1637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086793G>A" "" "benign" "" "0000309670" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "02330" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086841C>T" "" "benign" "" "0000309671" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "02330" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086865C>T" "" "benign" "" "0000309680" "0" "30" "16" "2105473" "2105473" "subst" "0.000166483" "02330" "TSC2_001307" "g.2105473C>T" "" "" "" "TSC2(NM_000548.5):c.552C>T (p.V184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055472C>T" "" "likely benign" "" "0000309681" "0" "10" "16" "2106725" "2106725" "subst" "0.00337349" "02330" "TSC2_000122" "g.2106725C>G" "" "" "" "TSC2(NM_000548.3):c.729C>G (p.L243=), TSC2(NM_000548.5):c.729C>G (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724C>G" "" "benign" "" "0000309682" "0" "30" "16" "2107094" "2107094" "subst" "2.6846E-5" "02330" "TSC2_001312" "g.2107094T>C" "" "" "" "TSC2(NM_000548.5):c.775-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057093T>C" "" "likely benign" "" "0000312074" "0" "10" "16" "2098578" "2098578" "subst" "0.000752528" "02325" "TSC2_003022" "g.2098578G>C" "" "" "" "TSC2(NM_000548.3):c.-29-10G>C, TSC2(NM_000548.5):c.-29-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048577G>C" "" "benign" "" "0000312075" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "02325" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000312076" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "02325" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062557G>A" "" "likely benign" "" "0000312077" "0" "30" "16" "2098774" "2098774" "subst" "0.000601626" "02325" "TSC2_000342" "g.2098774C>G" "" "" "" "TSC2(NM_000548.3):c.138+20C>G, TSC2(NM_000548.5):c.138+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048773C>G" "" "likely benign" "" "0000312078" "0" "30" "16" "2121830" "2121830" "subst" "0" "02325" "TSC2_003783" "g.2121830T>C" "" "" "" "TSC2(NM_000548.5):c.1992T>C (p.S664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071829T>C" "" "likely benign" "" "0000312079" "0" "30" "16" "2121833" "2121833" "subst" "0" "02325" "TSC2_003784" "g.2121833T>C" "" "" "" "TSC2(NM_000548.5):c.1995T>C (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071832T>C" "" "likely benign" "" "0000312080" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "02325" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "benign" "" "0000312081" "0" "50" "16" "2121877" "2121877" "subst" "1.87933E-5" "02325" "TSC2_003789" "g.2121877G>A" "" "" "" "TSC2(NM_000548.5):c.2039G>A (p.R680Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071876G>A" "" "VUS" "" "0000312082" "0" "30" "16" "2122380" "2122380" "subst" "0" "02325" "TSC2_003808" "g.2122380T>G" "" "" "" "TSC2(NM_000548.5):c.2220+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072379T>G" "" "likely benign" "" "0000312083" "0" "10" "16" "2103345" "2103345" "subst" "0.00332754" "02325" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053344C>T" "" "benign" "" "0000312084" "0" "90" "16" "2126142" "2126142" "subst" "0" "02325" "TSC2_000110" "g.2126142C>T" "" "" "" "TSC2(NM_000548.3):c.2713C>T (p.R905W), TSC2(NM_000548.5):c.2713C>T (p.R905W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076141C>T" "" "pathogenic" "" "0000312085" "0" "30" "16" "2103389" "2103389" "subst" "0.000903667" "02325" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053388C>T" "" "likely benign" "" "0000312086" "0" "30" "16" "2129045" "2129045" "subst" "0.000863178" "02325" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079044G>A" "" "likely benign" "" "0000312087" "0" "50" "16" "2129668" "2129668" "subst" "0" "02325" "TSC2_003931" "g.2129668C>T" "" "" "" "TSC2(NM_000548.5):c.3395C>T (p.S1132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079667C>T" "" "VUS" "" "0000312088" "0" "30" "16" "2131753" "2131753" "subst" "3.26227E-5" "02325" "TSC2_003968" "g.2131753G>A" "" "" "" "TSC2(NM_000548.5):c.3768G>A (p.P1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081752G>A" "" "likely benign" "" "0000312089" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "02325" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "likely benign" "" "0000312090" "0" "50" "16" "2134631" "2134631" "subst" "4.25648E-5" "02325" "TSC2_004037" "g.2134631C>T" "" "" "" "TSC2(NM_000548.5):c.4408C>T (p.R1470C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084630C>T" "" "VUS" "" "0000312092" "0" "30" "16" "2138570" "2138570" "subst" "0.00148943" "02325" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088569C>T" "" "likely benign" "" "0000312093" "0" "30" "16" "2108887" "2108887" "subst" "0.000462771" "02325" "TSC2_002144" "g.2108887C>T" "" "" "" "TSC2(NM_000548.3):c.975+13C>T, TSC2(NM_000548.5):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058886C>T" "" "likely benign" "" "0000313527" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "02329" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000313528" "0" "10" "16" "2110805" "2110805" "subst" "0.0100457" "02329" "TSC2_000164" "g.2110805G>A" "" "" "" "TSC2(NM_000548.3):c.1110G>A (p.Q370=), TSC2(NM_000548.5):c.1110G>A (p.Q370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060804G>A" "" "benign" "" "0000313529" "0" "30" "16" "2111895" "2111895" "subst" "0.000324971" "02329" "TSC2_000124" "g.2111895G>A" "" "" "" "TSC2(NM_000548.3):c.1143G>A (p.(Arg381=)), TSC2(NM_000548.5):c.1143G>A (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061894G>A" "" "likely benign" "" "0000313530" "0" "30" "16" "2112516" "2112516" "subst" "0.00118043" "02329" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062515C>T" "" "likely benign" "" "0000313531" "0" "30" "16" "2112521" "2112521" "subst" "0.00171838" "02329" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>A" "" "likely benign" "" "0000313532" "0" "30" "16" "2112969" "2112969" "subst" "6.77599E-5" "02329" "TSC2_002344" "g.2112969G>A" "" "" "" "TSC2(NM_000548.3):c.1362-4G>A, TSC2(NM_000548.5):c.1362-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062968G>A" "" "likely benign" "" "0000313533" "0" "30" "16" "2113058" "2113058" "subst" "0.000154541" "02329" "TSC2_000698" "g.2113058C>T" "" "" "" "TSC2(NM_000548.3):c.1443+4C>T, TSC2(NM_000548.5):c.1443+4C>T, TSC2(NM_001114382.2):c.1443+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063057C>T" "" "likely benign" "" "0000313534" "0" "30" "16" "2114279" "2114279" "subst" "0" "02329" "TSC2_003712" "g.2114279C>T" "" "" "" "TSC2(NM_000548.5):c.1450C>T (p.L484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064278C>T" "" "likely benign" "" "0000313535" "0" "30" "16" "2121869" "2121869" "subst" "0.00250745" "02329" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "likely benign" "" "0000313536" "0" "30" "16" "2122297" "2122297" "subst" "0.000146267" "02329" "TSC2_000441" "g.2122297G>C" "" "" "" "TSC2(NM_000548.5):c.2153G>C (p.R718P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072296G>C" "" "likely benign" "" "0000313537" "0" "30" "16" "2122380" "2122380" "subst" "8.15288E-6" "02329" "TSC2_003809" "g.2122380T>C" "" "" "" "TSC2(NM_000548.5):c.2220+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072379T>C" "" "likely benign" "" "0000313538" "0" "30" "16" "2103345" "2103345" "subst" "0.00332754" "02329" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053344C>T" "" "likely benign" "" "0000313539" "0" "30" "16" "2124321" "2124321" "subst" "0.000663497" "02329" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074320C>A" "" "likely benign" "" "0000313540" "0" "10" "16" "2103408" "2103408" "subst" "0.000593427" "02329" "TSC2_001304" "g.2103408C>G" "" "" "" "TSC2(NM_000548.5):c.291C>G (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053407C>G" "" "benign" "" "0000313541" "0" "30" "16" "2127724" "2127724" "subst" "6.9269E-5" "02329" "TSC2_002021" "g.2127724G>C" "" "" "" "TSC2(NM_000548.3):c.2963G>C (p.R988P), TSC2(NM_000548.5):c.2963G>C (p.R988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077723G>C" "" "likely benign" "" "0000313542" "0" "10" "16" "2129192" "2129192" "subst" "0.00313342" "02329" "TSC2_000499" "g.2129192G>C" "" "" "" "TSC2(NM_000548.3):c.3126G>C (p.P1042=), TSC2(NM_000548.5):c.3126G>C (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>C" "" "benign" "" "0000313543" "0" "10" "16" "2129192" "2129192" "subst" "0.000105804" "02329" "TSC2_000760" "g.2129192G>T" "" "" "" "TSC2(NM_000548.3):c.3126G>T (p.P1042=), TSC2(NM_000548.5):c.3126G>T (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>T" "" "benign" "" "0000313544" "0" "30" "16" "2129442" "2129442" "subst" "4.08844E-6" "02329" "TSC2_003921" "g.2129442T>A" "" "" "" "TSC2(NM_000548.5):c.3284+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079441T>A" "" "likely benign" "" "0000313545" "0" "10" "16" "2130190" "2130190" "subst" "0.00137166" "02329" "TSC2_000515" "g.2130190C>T" "" "" "" "TSC2(NM_000548.3):c.3422C>T (p.A1141V), TSC2(NM_000548.5):c.3422C>T (p.A1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080189C>T" "" "benign" "" "0000313546" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "02329" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080386C>T" "" "likely benign" "" "0000313547" "0" "30" "16" "2131708" "2131708" "subst" "0.000240349" "02329" "TSC2_000255" "g.2131708C>T" "" "" "" "TSC2(NM_000548.5):c.3723C>T (p.F1241=), TSC2(NM_001114382.2):c.3723C>T (p.F1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081707C>T" "" "likely benign" "" "0000313548" "0" "10" "16" "2132513" "2132513" "subst" "0.00289752" "02329" "TSC2_000539" "g.2132513C>G" "" "" "" "TSC2(NM_000548.3):c.3883+8C>G, TSC2(NM_000548.5):c.3883+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082512C>G" "" "benign" "" "0000313549" "0" "30" "16" "2133679" "2133679" "subst" "0.00052936" "02329" "TSC2_000541" "g.2133679C>G" "" "" "" "TSC2(NM_000548.3):c.3884-17C>G, TSC2(NM_000548.5):c.3884-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083678C>G" "" "likely benign" "" "0000313550" "0" "30" "16" "2133701" "2133701" "subst" "0.00281981" "02329" "TSC2_000542" "g.2133701G>A" "" "" "" "TSC2(NM_000548.3):c.3889G>A (p.(Ala1297Thr)), TSC2(NM_000548.5):c.3889G>A (p.A1297T), TSC2(NM_001370404.1):c.3757G>A (p.A1253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083700G>A" "" "likely benign" "" "0000313551" "0" "10" "16" "2133726" "2133726" "subst" "0.0018471" "02329" "TSC2_000543" "g.2133726C>T" "" "" "" "TSC2(NM_000548.5):c.3914C>T (p.P1305L), TSC2(NM_001114382.2):c.3845C>T (p.P1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083725C>T" "" "benign" "" "0000313552" "0" "10" "16" "2133727" "2133727" "subst" "0.00475155" "02329" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083726G>A" "" "benign" "" "0000313553" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "02329" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083797G>A" "" "benign" "" "0000313554" "0" "10" "16" "2134221" "2134221" "subst" "0.00247118" "02329" "TSC2_000917" "g.2134221C>T" "" "" "" "TSC2(NM_000548.3):c.4006-8C>T, TSC2(NM_000548.5):c.4006-8C>T, TSC2(NM_001114382.2):c.3937-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084220C>T" "" "benign" "" "0000313555" "0" "30" "16" "2134328" "2134328" "subst" "0.000253707" "02329" "TSC2_000558" "g.2134328C>T" "" "" "" "TSC2(NM_000548.5):c.4105C>T (p.R1369W, p.(Arg1369Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084327C>T" "" "likely benign" "" "0000313556" "0" "30" "16" "2134393" "2134393" "subst" "4.10088E-6" "02329" "TSC2_004008" "g.2134393G>A" "" "" "" "TSC2(NM_000548.5):c.4170G>A (p.E1390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084392G>A" "" "likely benign" "" "0000313557" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "02329" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "likely benign" "" "0000313558" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "02329" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084507G>T" "" "benign" "" "0000313559" "0" "50" "16" "2134631" "2134631" "subst" "4.25648E-5" "02329" "TSC2_004037" "g.2134631C>T" "" "" "" "TSC2(NM_000548.5):c.4408C>T (p.R1470C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084630C>T" "" "VUS" "" "0000313561" "0" "30" "16" "2134985" "2134987" "del" "0" "02329" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084984_2084986del" "" "likely benign" "" "0000313562" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "02329" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084993C>T" "" "likely benign" "" "0000313563" "0" "30" "16" "2136384" "2136384" "subst" "4.99538E-5" "02329" "TSC2_004104" "g.2136384C>T" "" "" "" "TSC2(NM_000548.5):c.4849+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086383C>T" "" "likely benign" "" "0000313564" "0" "30" "16" "2136794" "2136794" "subst" "0.000854337" "02329" "TSC2_000028" "g.2136794G>A" "" "" "" "TSC2(NM_000548.5):c.4911G>A (p.K1637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086793G>A" "" "likely benign" "" "0000313565" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "02329" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086841C>T" "" "benign" "" "0000313566" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "02329" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086865C>T" "" "benign" "" "0000313567" "0" "10" "16" "2137969" "2138002" "del" "0" "02329" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "benign" "" "0000313568" "0" "10" "16" "2138508" "2138508" "subst" "0.00233816" "02329" "TSC2_000891" "g.2138508G>C" "" "" "" "TSC2(NM_000548.3):c.5321G>C (p.S1774T), TSC2(NM_000548.5):c.5321G>C (p.S1774T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088507G>C" "" "benign" "" "0000313569" "0" "30" "16" "2138534" "2138534" "subst" "1.22486E-5" "02329" "TSC2_002735" "g.2138534G>A" "" "" "" "TSC2(NM_000548.5):c.5347G>A (p.E1783K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088533G>A" "" "likely benign" "" "0000313570" "0" "30" "16" "2138570" "2138570" "subst" "0.00148943" "02329" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088569C>T" "" "likely benign" "" "0000313571" "0" "30" "16" "2106225" "2106225" "subst" "0.000250189" "02329" "TSC2_003276" "g.2106225G>A" "" "" "" "TSC2(NM_000548.5):c.628G>A (p.A210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056224G>A" "" "likely benign" "" "0000313572" "0" "10" "16" "2106725" "2106725" "subst" "0.00337349" "02329" "TSC2_000122" "g.2106725C>G" "" "" "" "TSC2(NM_000548.3):c.729C>G (p.L243=), TSC2(NM_000548.5):c.729C>G (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724C>G" "" "benign" "" "0000314865" "0" "30" "16" "2098205" "2098205" "subst" "0" "02326" "TSC2_000751" "g.2098205T>G" "" "" "" "TSC2(NM_000548.3):c.-30+139T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048204T>G" "" "likely benign" "" "0000314866" "0" "10" "16" "2138672" "2138673" "del" "0" "02326" "TSC2_000304" "g.2138672_2138673del" "" "" "" "TSC2(NM_000548.3):c.*61_*62delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088671_2088672del" "" "benign" "" "0000314867" "0" "30" "16" "2110795" "2110795" "subst" "0.0138783" "02326" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "likely benign" "" "0000314868" "0" "10" "16" "2111779" "2111779" "subst" "0" "02326" "TSC2_001025" "g.2111779T>C" "" "" "" "TSC2(NM_000548.3):c.1120-93T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061778T>C" "" "benign" "" "0000314869" "0" "10" "16" "2112516" "2112516" "subst" "0.00118043" "02326" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062515C>T" "" "benign" "" "0000314870" "0" "10" "16" "2114407" "2114407" "subst" "0.0574263" "02326" "TSC2_000005" "g.2114407C>T" "" "" "" "TSC2(NM_000548.3):c.1578C>T (p.S526=), TSC2(NM_000548.5):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064406C>T" "" "benign" "" "0000314871" "0" "10" "16" "2115506" "2115506" "subst" "0.0568299" "02326" "TSC2_000176" "g.2115506C>T" "" "" "" "TSC2(NM_000548.3):c.1600-14C>T, TSC2(NM_000548.5):c.1600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065505C>T" "" "benign" "" "0000314872" "0" "10" "16" "2115481" "2115481" "subst" "0.0743235" "02326" "TSC2_000175" "g.2115481C>T" "" "" "" "TSC2(NM_000548.3):c.1600-39C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065480C>T" "" "benign" "" "0000314873" "0" "10" "16" "2120402" "2120402" "subst" "0" "02326" "TSC2_002178" "g.2120402T>C" "" "" "" "TSC2(NM_000548.3):c.1717-55T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070401T>C" "" "benign" "" "0000314874" "0" "10" "16" "2125769" "2125769" "subst" "0.0105874" "02326" "TSC2_002361" "g.2125769G>A" "" "" "" "TSC2(NM_000548.3):c.2546-31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075768G>A" "" "benign" "" "0000314876" "0" "10" "16" "2105400" "2105400" "subst" "0.0871488" "02326" "TSC2_000156" "g.2105400C>T" "" "" "" "TSC2(NM_000548.3):c.482-3C>T, TSC2(NM_000548.5):c.482-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055399C>T" "" "benign" "" "0000314877" "0" "10" "16" "2105335" "2105335" "subst" "0" "02326" "TSC2_001006" "g.2105335C>G" "" "" "" "TSC2(NM_000548.3):c.482-68C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055334C>G" "" "benign" "" "0000314878" "0" "10" "16" "2136455" "2136455" "subst" "0" "02326" "TSC2_002646" "g.2136455C>T" "" "" "" "TSC2(NM_000548.3):c.4849+75C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086454C>T" "" "benign" "" "0000314879" "0" "10" "16" "2138269" "2138269" "subst" "0.178282" "02326" "TSC2_000001" "g.2138269T>C" "" "" "" "PKD1(NM_001009944.3):c.*1459A>G, TSC2(NM_000548.3):c.5202T>C (p.D1734=), TSC2(NM_000548.5):c.5202T>C (p.D1734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088268T>C" "" "benign" "" "0000314880" "0" "10" "16" "2138422" "2138422" "subst" "0.11417" "02326" "TSC2_000300" "g.2138422C>G" "" "" "" "TSC2(NM_000548.3):c.5260-25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088421C>G" "" "benign" "" "0000314881" "0" "10" "16" "2138398" "2138398" "subst" "0.105846" "02326" "TSC2_000150" "g.2138398C>T" "" "" "" "TSC2(NM_000548.3):c.5260-49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088397C>T" "" "benign" "" "0000314882" "0" "10" "16" "2110571" "2110571" "subst" "0" "02326" "TSC2_001317" "g.2110571C>G" "" "" "" "TSC2(NM_000548.3):c.976-100C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060570C>G" "" "benign" "" "0000314883" "0" "10" "16" "2110608" "2110608" "subst" "0" "02326" "TSC2_000752" "g.2110608G>A" "" "" "" "TSC2(NM_000548.3):c.976-63G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060607G>A" "" "benign" "" "0000317376" "0" "10" "16" "2098578" "2098578" "subst" "0.000752528" "01943" "TSC2_003022" "g.2098578G>C" "" "" "" "TSC2(NM_000548.3):c.-29-10G>C, TSC2(NM_000548.5):c.-29-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048577G>C" "" "benign" "" "0000317377" "0" "10" "16" "2138670" "2138673" "del" "0" "01943" "TSC2_000683" "g.2138670_2138673del" "" "" "" "TSC2(NM_000548.3):c.*59_*62delTAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088669_2088672del" "" "benign" "" "0000317378" "0" "10" "16" "2138672" "2138673" "del" "0" "01943" "TSC2_000304" "g.2138672_2138673del" "" "" "" "TSC2(NM_000548.3):c.*61_*62delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088671_2088672del" "" "benign" "" "0000317379" "0" "10" "16" "2138617" "2138617" "subst" "0" "01943" "TSC2_002319" "g.2138617G>A" "" "" "" "TSC2(NM_000548.3):c.*6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088616G>A" "" "benign" "" "0000317380" "0" "50" "16" "2138682" "2138682" "subst" "0" "01943" "TSC2_002678" "g.2138682C>T" "" "" "" "TSC2(NM_000548.3):c.*71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088681C>T" "" "VUS" "" "0000317381" "0" "90" "16" "2110704" "2110704" "subst" "0" "01943" "TSC2_002146" "g.2110704G>T" "" "" "" "TSC2(NM_000548.3):c.1009G>T (p.E337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060703G>T" "" "pathogenic" "" "0000317382" "0" "90" "16" "2110714" "2110714" "subst" "0" "01943" "TSC2_002015" "g.2110714T>C" "" "" "" "TSC2(NM_000548.3):c.1019T>C (p.L340P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060713T>C" "" "pathogenic" "" "0000317383" "0" "50" "16" "2110728" "2110728" "subst" "8.12249E-6" "01943" "TSC2_002338" "g.2110728C>T" "" "" "" "TSC2(NM_000548.3):c.1033C>T (p.L345F), TSC2(NM_001114382.2):c.1033C>T (p.L345F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060727C>T" "" "VUS" "" "0000317384" "0" "30" "16" "2110758" "2110758" "subst" "0" "01943" "TSC2_001319" "g.2110758G>T" "" "" "" "TSC2(NM_001114382.2):c.1063G>T (p.V355L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060757G>T" "" "likely benign" "" "0000317385" "0" "90" "16" "2098723" "2098726" "del" "0" "01943" "TSC2_001060" "g.2098723_2098726del" "" "" "" "TSC2(NM_000548.3):c.107_110delCGGA (p.T36Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048722_2048725del" "" "pathogenic" "" "0000317386" "0" "90" "16" "2110791" "2110791" "subst" "0" "01943" "TSC2_000383" "g.2110791G>T" "" "" "" "TSC2(NM_000548.3):c.1096G>T (p.E366*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060790G>T" "" "pathogenic" "" "0000317387" "0" "90" "16" "2110794" "2110794" "del" "0" "01943" "TSC2_002340" "g.2110794del" "" "" "" "TSC2(NM_000548.3):c.1099delC (p.R367Gfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060793del" "" "pathogenic" "" "0000317388" "0" "10" "16" "2110795" "2110795" "subst" "0.0138783" "01943" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>A" "" "benign" "" "0000317389" "0" "90" "16" "2110795" "2110795" "subst" "0" "01943" "TSC2_002147" "g.2110795G>C" "" "" "" "TSC2(NM_000548.3):c.1100G>C (p.R367P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060794G>C" "" "pathogenic" "" "0000317390" "0" "10" "16" "2110805" "2110805" "subst" "0.0100457" "01943" "TSC2_000164" "g.2110805G>A" "" "" "" "TSC2(NM_000548.3):c.1110G>A (p.Q370=), TSC2(NM_000548.5):c.1110G>A (p.Q370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060804G>A" "" "benign" "" "0000317391" "0" "90" "16" "2110812" "2110812" "subst" "0" "01943" "TSC2_000385" "g.2110812C>T" "" "" "" "TSC2(NM_000548.3):c.1117C>T (p.Q373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060811C>T" "" "pathogenic" "" "0000317392" "0" "10" "16" "2110837" "2110837" "subst" "0.00029227" "01943" "TSC2_002148" "g.2110837G>A" "" "" "" "TSC2(NM_000548.3):c.1119+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060836G>A" "" "benign" "" "0000317393" "0" "10" "16" "2110820" "2110820" "subst" "2.44858E-5" "01943" "TSC2_002149" "g.2110820G>C" "" "" "" "TSC2(NM_000548.3):c.1119+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060819G>C" "" "benign" "" "0000317394" "0" "10" "16" "2111902" "2111902" "subst" "2.03107E-5" "01943" "TSC2_002341" "g.2111902G>A" "" "" "" "TSC2(NM_000548.3):c.1150G>A (p.V384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061901G>A" "" "benign" "" "0000317395" "0" "90" "16" "2111903" "2111903" "subst" "0" "01943" "TSC2_002152" "g.2111903T>A" "" "" "" "TSC2(NM_000548.3):c.1151T>A (p.V384D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061902T>A" "" "pathogenic" "" "0000317396" "0" "90" "16" "2098736" "2098736" "del" "0" "01943" "TSC2_002108" "g.2098736del" "" "" "" "TSC2(NM_000548.3):c.120delC (p.T41Pfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048735del" "" "pathogenic" "" "0000317397" "0" "90" "16" "2111962" "2111962" "subst" "0" "01943" "TSC2_000387" "g.2111962C>T" "" "" "" "TSC2(NM_000548.3):c.1210C>T (p.Q404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061961C>T" "" "pathogenic" "" "0000317398" "0" "90" "16" "2111986" "2111986" "del" "0" "01943" "TSC2_002153" "g.2111986del" "" "" "" "TSC2(NM_000548.3):c.1234delG (p.E412Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2061985del" "" "pathogenic" "" "0000317399" "0" "90" "16" "2112010" "2112010" "subst" "0" "01943" "TSC2_002155" "g.2112010G>A" "" "" "" "TSC2(NM_000548.3):c.1257+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062009G>A" "" "pathogenic" "" "0000317400" "0" "90" "16" "2112030" "2112030" "subst" "0" "01943" "TSC2_002343" "g.2112030G>A" "" "" "" "TSC2(NM_000548.3):c.1257+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062029G>A" "" "pathogenic" "" "0000317401" "0" "10" "16" "2112468" "2112468" "subst" "0" "01943" "TSC2_002326" "g.2112468G>T" "" "" "" "TSC2(NM_000548.3):c.1258-30G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062467G>T" "" "benign" "" "0000317403" "0" "10" "16" "2112521" "2112521" "subst" "0.00171838" "01943" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>A" "" "benign" "" "0000317404" "0" "50" "16" "2112521" "2112521" "subst" "0" "01943" "TSC2_002055" "g.2112521C>G" "" "" "" "TSC2(NM_000548.3):c.1281C>G (p.I427M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062520C>G" "" "VUS" "" "0000317405" "0" "10" "16" "2112558" "2112558" "subst" "0.000718652" "01943" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062557G>A" "" "benign" "" "0000317406" "0" "90" "16" "2112576" "2112576" "subst" "0" "01943" "TSC2_000199" "g.2112576C>T" "" "" "" "TSC2(NM_000548.3):c.1336C>T (p.Q446*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062575C>T" "" "pathogenic" "" "0000317407" "0" "50" "16" "2112580" "2112580" "subst" "5.0293E-5" "01943" "TSC2_000394" "g.2112580C>T" "" "" "" "TSC2(NM_000548.3):c.1340C>T (p.A447V), TSC2(NM_000548.5):c.1340C>T (p.A447V), TSC2(NM_001114382.2):c.1340C>T (p.A447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062579C>T" "" "VUS" "" "0000317408" "0" "90" "16" "2112592" "2112593" "del" "0" "01943" "TSC2_002157" "g.2112592_2112593del" "" "" "" "TSC2(NM_000548.3):c.1352_1353delGA (p.R451Ifs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062591_2062592del" "" "pathogenic" "" "0000317409" "0" "10" "16" "2112619" "2112619" "subst" "0.000774683" "01943" "TSC2_001321" "g.2112619G>C" "" "" "" "TSC2(NM_000548.3):c.1361+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062618G>C" "" "benign" "" "0000317410" "0" "90" "16" "2112602" "2112602" "del" "0" "01943" "TSC2_003603" "g.2112602del" "" "" "" "TSC2(NM_000548.3):c.1361+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062601del" "" "pathogenic" "" "0000317411" "0" "90" "16" "2112602" "2112602" "subst" "0" "01943" "TSC2_000733" "g.2112602G>A" "" "" "" "TSC2(NM_000548.3):c.1361+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062601G>A" "" "pathogenic" "" "0000317412" "0" "90" "16" "2112603" "2112603" "subst" "0" "01943" "TSC2_002158" "g.2112603T>C" "" "" "" "TSC2(NM_000548.3):c.1361+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062602T>C" "" "pathogenic" "" "0000317413" "0" "90" "16" "2112603" "2112603" "subst" "0" "01943" "TSC2_002159" "g.2112603T>G" "" "" "" "TSC2(NM_000548.3):c.1361+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062602T>G" "" "pathogenic" "" "0000317414" "0" "10" "16" "2112655" "2112658" "del" "0" "01943" "TSC2_000697" "g.2112655_2112658del" "" "" "" "TSC2(NM_000548.3):c.1361+54_1361+57delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062654_2062657del" "" "benign" "" "0000317415" "0" "10" "16" "2112941" "2112941" "subst" "0.00378077" "01943" "TSC2_000396" "g.2112941C>G" "" "" "" "TSC2(NM_000548.3):c.1362-32C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062940C>G" "" "benign" "" "0000317416" "0" "10" "16" "2112969" "2112969" "subst" "6.77599E-5" "01943" "TSC2_002344" "g.2112969G>A" "" "" "" "TSC2(NM_000548.3):c.1362-4G>A, TSC2(NM_000548.5):c.1362-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062968G>A" "" "benign" "" "0000317417" "0" "50" "16" "2112977" "2112977" "subst" "2.7019E-5" "01943" "TSC2_002017" "g.2112977G>A" "" "" "" "TSC2(NM_000548.3):c.1366G>A (p.E456K), TSC2(NM_000548.5):c.1366G>A (p.E456K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062976G>A" "" "VUS" "" "0000317418" "0" "90" "16" "2112983" "2112983" "subst" "0" "01943" "TSC2_000070" "g.2112983C>T" "" "" "" "TSC2(NM_000548.3):c.1372C>T (p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062982C>T" "" "pathogenic" "" "0000317419" "0" "10" "16" "2112989" "2112989" "subst" "0.00121899" "01943" "TSC2_001096" "g.2112989G>A" "" "" "" "TSC2(NM_000548.3):c.1378G>A (p.A460T), TSC2(NM_000548.5):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2062988G>A" "" "benign" "" "0000317420" "0" "10" "16" "2098767" "2098767" "subst" "0" "01943" "TSC2_001301" "g.2098767C>T" "" "" "" "TSC2(NM_000548.3):c.138+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048766C>T" "" "benign" "" "0000317421" "0" "90" "16" "2098755" "2098755" "subst" "0" "01943" "TSC2_000013" "g.2098755G>A" "" "" "" "TSC2(NM_000548.3):c.138+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048754G>A" "" "pathogenic" "" "0000317422" "0" "10" "16" "2098774" "2098774" "subst" "0.000601626" "01943" "TSC2_000342" "g.2098774C>G" "" "" "" "TSC2(NM_000548.3):c.138+20C>G, TSC2(NM_000548.5):c.138+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048773C>G" "" "benign" "" "0000317423" "0" "50" "16" "2098759" "2098759" "subst" "0" "01943" "TSC2_000034" "g.2098759G>A" "" "" "" "TSC2(NM_000548.3):c.138+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048758G>A" "" "VUS" "" "0000317424" "0" "30" "16" "2100386" "2100386" "subst" "1.62623E-5" "01943" "TSC2_001302" "g.2100386T>G" "" "" "" "TSC2(NM_000548.3):c.139-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050385T>G" "" "likely benign" "" "0000317425" "0" "90" "16" "2100400" "2100400" "subst" "0" "01943" "TSC2_003589" "g.2100400G>T" "" "" "" "TSC2(NM_000548.3):c.139-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050399G>T" "" "pathogenic" "" "0000317426" "0" "30" "16" "2100381" "2100381" "subst" "0" "01943" "TSC2_003590" "g.2100381C>T" "" "" "" "TSC2(NM_000548.3):c.139-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050380C>T" "" "likely benign" "" "0000317427" "0" "90" "16" "2113008" "2113008" "subst" "0" "01943" "TSC2_001121" "g.2113008T>C" "" "" "" "TSC2(NM_000548.3):c.1397T>C (p.L466P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063007T>C" "" "pathogenic" "" "0000317428" "0" "90" "16" "2113043" "2113043" "subst" "0" "01943" "TSC2_001030" "g.2113043C>T" "" "" "" "TSC2(NM_000548.3):c.1432C>T (p.Q478*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063042C>T" "" "pathogenic" "" "0000317429" "0" "90" "16" "2113049" "2113050" "ins" "0" "01943" "TSC2_003604" "g.2113049_2113050insTT" "" "" "" "TSC2(NM_000548.3):c.1438_1439insTT (p.Y480Ffs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063048_2063049insTT" "" "pathogenic" "" "0000317430" "0" "10" "16" "2113069" "2113069" "subst" "6.05091E-5" "01943" "TSC2_002946" "g.2113069G>A" "" "" "" "TSC2(NM_000548.3):c.1443+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063068G>A" "" "benign" "" "0000317431" "0" "10" "16" "2113072" "2113072" "subst" "0.000679074" "01943" "TSC2_002161" "g.2113072C>T" "" "" "" "TSC2(NM_000548.3):c.1443+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063071C>T" "" "benign" "" "0000317432" "0" "90" "16" "2113055" "2113055" "subst" "0" "01943" "TSC2_002497" "g.2113055G>A" "" "" "" "TSC2(NM_000548.3):c.1443+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063054G>A" "" "pathogenic" "" "0000317433" "0" "90" "16" "2113055" "2113055" "subst" "0" "01943" "TSC2_002162" "g.2113055G>T" "" "" "" "TSC2(NM_000548.3):c.1443+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063054G>T" "" "pathogenic" "" "0000317434" "0" "90" "16" "2113056" "2113056" "subst" "0" "01943" "TSC2_002163" "g.2113056T>G" "" "" "" "TSC2(NM_000548.3):c.1443+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063055T>G" "" "pathogenic" "" "0000317435" "0" "30" "16" "2113058" "2113058" "subst" "0.000154541" "01943" "TSC2_000698" "g.2113058C>T" "" "" "" "TSC2(NM_000548.3):c.1443+4C>T, TSC2(NM_000548.5):c.1443+4C>T, TSC2(NM_001114382.2):c.1443+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2063057C>T" "" "likely benign" "" "0000317436" "0" "50" "16" "2114306" "2114306" "subst" "0" "01943" "TSC2_000699" "g.2114306C>G" "" "" "" "TSC2(NM_000548.3):c.1477C>G (p.L493V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064305C>G" "" "VUS" "" "0000317437" "0" "90" "16" "2114307" "2114307" "subst" "0" "01943" "TSC2_002059" "g.2114307T>C" "" "" "" "TSC2(NM_000548.3):c.1478T>C (p.L493P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064306T>C" "" "pathogenic" "" "0000317438" "0" "10" "16" "2114308" "2114308" "subst" "4.06128E-6" "01943" "TSC2_001053" "g.2114308C>T" "" "" "" "TSC2(NM_000548.3):c.1479C>T (p.L493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064307C>T" "" "benign" "" "0000317439" "0" "90" "16" "2114321" "2114321" "subst" "0" "01943" "TSC2_000407" "g.2114321G>T" "" "" "" "TSC2(NM_000548.3):c.1492G>T (p.E498*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064320G>T" "" "pathogenic" "" "0000317440" "0" "90" "16" "2114328" "2114329" "del" "0" "01943" "TSC2_003605" "g.2114328_2114329del" "" "" "" "TSC2(NM_000548.3):c.1499_1500delAA (p.K500Rfs*88)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064327_2064328del" "" "pathogenic" "" "0000317441" "0" "90" "16" "2114336" "2114336" "subst" "0" "01943" "TSC2_002164" "g.2114336C>T" "" "" "" "TSC2(NM_000548.3):c.1507C>T (p.Q503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064335C>T" "" "pathogenic" "" "0000317442" "0" "30" "16" "2114341" "2114341" "subst" "7.31107E-5" "01943" "TSC2_003606" "g.2114341C>G" "" "" "" "TSC2(NM_000548.3):c.1512C>G (p.V504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064340C>G" "" "likely benign" "" "0000317443" "0" "90" "16" "2114342" "2114342" "subst" "0" "01943" "TSC2_000051" "g.2114342C>T" "" "" "" "TSC2(NM_000548.3):c.1513C>T (p.R505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064341C>T" "" "pathogenic" "" "0000317444" "0" "10" "16" "2114372" "2114372" "subst" "0.00193365" "01943" "TSC2_002346" "g.2114372C>T" "" "" "" "TSC2(NM_000548.3):c.1543C>T (p.L515=), TSC2(NM_000548.5):c.1543C>T (p.L515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064371C>T" "" "benign" "" "0000317445" "0" "90" "16" "2114375" "2114375" "del" "0" "01943" "TSC2_002167" "g.2114375del" "" "" "" "TSC2(NM_000548.3):c.1546delG (p.A516Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064374del" "" "pathogenic" "" "0000317448" "0" "10" "16" "2114407" "2114407" "subst" "0.0574263" "01943" "TSC2_000005" "g.2114407C>T" "" "" "" "TSC2(NM_000548.3):c.1578C>T (p.S526=), TSC2(NM_000548.5):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064406C>T" "" "benign" "" "0000317449" "0" "50" "16" "2114414" "2114414" "subst" "0" "01943" "TSC2_003607" "g.2114414G>T" "" "" "" "TSC2(NM_000548.3):c.1585G>T (p.D529Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064413G>T" "" "VUS" "" "0000317450" "0" "10" "16" "2114422" "2114422" "subst" "0.00101201" "01943" "TSC2_000222" "g.2114422C>T" "" "" "" "TSC2(NM_000548.3):c.1593C>T (p.I531=), TSC2(NM_000548.5):c.1593C>T (p.I531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064421C>T" "" "benign" "" "0000317451" "0" "90" "16" "2114433" "2114433" "subst" "0" "01943" "TSC2_002171" "g.2114433G>A" "" "" "" "TSC2(NM_000548.3):c.1599+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064432G>A" "" "pathogenic" "" "0000317452" "0" "10" "16" "2114510" "2114512" "del" "0" "01943" "TSC2_002348" "g.2114510_2114512del" "" "" "" "TSC2(NM_000548.3):c.1599+82_1599+84delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064509_2064511del" "" "benign" "" "0000317453" "0" "90" "16" "2114428" "2114428" "subst" "0" "01943" "TSC2_000410" "g.2114428G>A" "" "" "" "TSC2(NM_000548.3):c.1599G>A (p.K533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2064427G>A" "" "pathogenic" "" "0000317454" "0" "10" "16" "2115506" "2115506" "subst" "0.0568299" "01943" "TSC2_000176" "g.2115506C>T" "" "" "" "TSC2(NM_000548.3):c.1600-14C>T, TSC2(NM_000548.5):c.1600-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065505C>T" "" "benign" "" "0000317456" "0" "50" "16" "2115529" "2115529" "subst" "0.000142804" "01943" "TSC2_002349" "g.2115529C>T" "" "" "" "TSC2(NM_000548.3):c.1609C>T (p.R537C), TSC2(NM_001114382.2):c.1609C>T (p.R537C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065528C>T" "" "VUS" "" "0000317457" "0" "50" "16" "2115544" "2115544" "subst" "0" "01943" "TSC2_003582" "g.2115544C>G" "" "" "" "TSC2(NM_000548.3):c.1624C>G (p.P542A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065543C>G" "" "VUS" "" "0000317458" "0" "90" "16" "2115550" "2115550" "del" "0" "01943" "TSC2_002174" "g.2115550del" "" "" "" "TSC2(NM_000548.3):c.1630delG (p.E544Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065549del" "" "pathogenic" "" "0000317459" "0" "90" "16" "2115556" "2115556" "subst" "0" "01943" "TSC2_003608" "g.2115556G>T" "" "" "" "TSC2(NM_000548.3):c.1636G>T (p.E546*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065555G>T" "" "pathogenic" "" "0000317460" "0" "90" "16" "2115562" "2115563" "del" "0" "01943" "TSC2_000972" "g.2115562_2115563del" "" "" "" "TSC2(NM_000548.3):c.1642_1643delAG (p.R548Gfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065561_2065562del" "" "pathogenic" "" "0000317461" "0" "10" "16" "2115664" "2115664" "subst" "2.04962E-5" "01943" "TSC2_002177" "g.2115664C>A" "" "" "" "TSC2(NM_000548.3):c.1716+28C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2065663C>A" "" "benign" "" "0000317462" "0" "10" "16" "2120443" "2120443" "subst" "1.62705E-5" "01943" "TSC2_002686" "g.2120443T>C" "" "" "" "TSC2(NM_000548.3):c.1717-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070442T>C" "" "benign" "" "0000317463" "0" "10" "16" "2120429" "2120429" "subst" "0.000244176" "01943" "TSC2_000414" "g.2120429C>T" "" "" "" "TSC2(NM_000548.3):c.1717-28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070428C>T" "" "benign" "" "0000317464" "0" "10" "16" "2120402" "2120402" "subst" "0" "01943" "TSC2_002178" "g.2120402T>C" "" "" "" "TSC2(NM_000548.3):c.1717-55T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070401T>C" "" "benign" "" "0000317465" "0" "90" "16" "2100433" "2100433" "del" "0" "01943" "TSC2_002110" "g.2100433del" "" "" "" "TSC2(NM_000548.3):c.171delC (p.I58Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050432del" "" "pathogenic" "" "0000317466" "0" "90" "16" "2120481" "2120481" "dup" "0" "01943" "TSC2_001031" "g.2120481dup" "" "" "" "TSC2(NM_000548.3):c.1741dupA (p.S581Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070480dup" "" "pathogenic" "" "0000317467" "0" "10" "16" "2120492" "2120492" "subst" "6.50539E-5" "01943" "TSC2_002352" "g.2120492G>A" "" "" "" "TSC2(NM_000548.3):c.1752G>A (p.T584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070491G>A" "" "benign" "" "0000317468" "0" "50" "16" "2120494" "2120494" "subst" "2.84615E-5" "01943" "TSC2_002031" "g.2120494G>A" "" "" "" "TSC2(NM_000548.3):c.1754G>A (p.R585H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070493G>A" "" "VUS" "" "0000317470" "0" "90" "16" "2120523" "2120523" "subst" "0" "01943" "TSC2_000230" "g.2120523C>T" "" "" "" "TSC2(NM_000548.3):c.1783C>T (p.Q595*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070522C>T" "" "pathogenic" "" "0000317472" "0" "90" "16" "2120532" "2120534" "del" "0" "01943" "TSC2_002181" "g.2120532_2120534del" "" "" "" "TSC2(NM_000548.3):c.1792_1794delTAC (p.Y598del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070531_2070533del" "" "pathogenic" "" "0000317473" "0" "90" "16" "2120532" "2120532" "subst" "0" "01943" "TSC2_000420" "g.2120532T>C" "" "" "" "TSC2(NM_000548.3):c.1792T>C (p.Y598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070531T>C" "" "pathogenic" "" "0000317474" "0" "50" "16" "2098633" "2098633" "subst" "3.25124E-5" "01943" "TSC2_001300" "g.2098633G>A" "" "" "" "TSC2(NM_000548.3):c.17G>A (p.S6N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048632G>A" "" "VUS" "" "0000317476" "0" "90" "16" "2120560" "2120560" "subst" "0" "01943" "TSC2_002000" "g.2120560C>A" "" "" "" "TSC2(NM_000548.3):c.1820C>A (p.A607E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070559C>A" "" "pathogenic" "" "0000317477" "0" "90" "16" "2120571" "2120571" "subst" "0" "01943" "TSC2_000053" "g.2120571C>T" "" "" "" "TSC2(NM_000548.3):c.1831C>T (p.R611W), TSC2(NM_000548.5):c.1831C>T (p.R611W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070570C>T" "" "pathogenic" "" "0000317478" "0" "90" "16" "2120572" "2120572" "subst" "0" "01943" "TSC2_000105" "g.2120572G>A" "" "" "" "TSC2(NM_000548.3):c.1832G>A (p.R611Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070571G>A" "" "pathogenic" "" "0000317479" "0" "10" "16" "2120598" "2120598" "subst" "1.22662E-5" "01943" "TSC2_003763" "g.2120598C>T" "" "" "" "TSC2(NM_000548.3):c.1839+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070597C>T" "" "benign" "" "0000317480" "0" "90" "16" "2120580" "2120580" "subst" "0" "01943" "TSC2_001122" "g.2120580G>T" "" "" "" "TSC2(NM_000548.3):c.1839+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070579G>T" "" "pathogenic" "" "0000317481" "0" "90" "16" "2120581" "2120581" "subst" "0" "01943" "TSC2_002661" "g.2120581T>C" "" "" "" "TSC2(NM_000548.3):c.1839+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070580T>C" "" "pathogenic" "" "0000317483" "0" "10" "16" "2120585" "2120585" "subst" "0.000432311" "01943" "TSC2_000425" "g.2120585G>A" "" "" "" "TSC2(NM_000548.3):c.1839+6G>A, TSC2(NM_000548.5):c.1839+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2070584G>A" "" "benign" "" "0000317484" "0" "90" "16" "2121510" "2121510" "subst" "0" "01943" "TSC2_002183" "g.2121510G>C" "" "" "" "TSC2(NM_000548.3):c.1840-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071509G>C" "" "pathogenic" "" "0000317485" "0" "90" "16" "2121508" "2121508" "subst" "0" "01943" "TSC2_002185" "g.2121508C>G" "" "" "" "TSC2(NM_000548.3):c.1840-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071507C>G" "" "pathogenic" "" "0000317486" "0" "90" "16" "2121507" "2121525" "del" "0" "01943" "TSC2_003610" "g.2121507_2121525del" "" "" "" "TSC2(NM_000548.3):c.1840-4_1854delACAGGCCTTTGACTTCCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071506_2071524del" "" "pathogenic" "" "0000317487" "0" "90" "16" "2121524" "2121524" "subst" "0" "01943" "TSC2_002818" "g.2121524T>C" "" "" "" "TSC2(NM_000548.3):c.1853T>C (p.L618P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071523T>C" "" "pathogenic" "" "0000317488" "0" "30" "16" "2100447" "2100447" "subst" "0" "01943" "TSC2_002011" "g.2100447G>A" "" "" "" "TSC2(NM_000548.3):c.185G>A (p.G62E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050446G>A" "" "likely benign" "" "0000317489" "0" "90" "16" "2121533" "2121533" "subst" "0" "01943" "TSC2_002186" "g.2121533T>C" "" "" "" "TSC2(NM_000548.3):c.1862T>C (p.L621P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071532T>C" "" "pathogenic" "" "0000317490" "0" "90" "16" "2121535" "2121535" "subst" "0" "01943" "TSC2_001196" "g.2121535C>T" "" "" "" "TSC2(NM_000548.3):c.1864C>T (p.R622W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071534C>T" "" "pathogenic" "" "0000317491" "0" "30" "16" "2121540" "2121540" "subst" "0.000341878" "01943" "TSC2_003304" "g.2121540C>T" "" "" "" "TSC2(NM_000548.3):c.1869C>T (p.A623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071539C>T" "" "likely benign" "" "0000317492" "0" "90" "16" "2121543" "2121543" "delins" "0" "01943" "TSC2_002187" "g.2121543delinsTT" "" "" "" "TSC2(NM_000548.3):c.1872delCinsTT (p.S625Ffs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071542delinsTT" "" "pathogenic" "" "0000317493" "0" "90" "16" "2121546" "2121547" "del" "0" "01943" "TSC2_002188" "g.2121546_2121547del" "" "" "" "TSC2(NM_000548.3):c.1875_1876delAC (p.L626Afs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071545_2071546del" "" "pathogenic" "" "0000317494" "0" "90" "16" "2100449" "2100449" "del" "0" "01943" "TSC2_002111" "g.2100449del" "" "" "" "TSC2(NM_000548.3):c.187delC (p.Q63Rfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050448del" "" "pathogenic" "" "0000317495" "0" "30" "16" "2121556" "2121556" "subst" "0.000195308" "01943" "TSC2_003775" "g.2121556C>T" "" "" "" "TSC2(NM_000548.3):c.1885C>T (p.L629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071555C>T" "" "likely benign" "" "0000317497" "0" "90" "16" "2121618" "2121618" "subst" "0" "01943" "TSC2_002190" "g.2121618G>C" "" "" "" "TSC2(NM_000548.3):c.1946+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071617G>C" "" "pathogenic" "" "0000317498" "0" "30" "16" "2121641" "2121641" "subst" "0" "01943" "TSC2_003642" "g.2121641C>T" "" "" "" "TSC2(NM_000548.3):c.1946+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071640C>T" "" "likely benign" "" "0000317499" "0" "90" "16" "2121619" "2121619" "subst" "0" "01943" "TSC2_002354" "g.2121619T>C" "" "" "" "TSC2(NM_000548.3):c.1946+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071618T>C" "" "pathogenic" "" "0000317500" "0" "30" "16" "2121617" "2121617" "subst" "0.000317903" "01943" "TSC2_000429" "g.2121617T>C" "" "" "" "TSC2(NM_000548.3):c.1946T>C (p.M649T), TSC2(NM_000548.5):c.1946T>C (p.M649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071616T>C" "" "likely benign" "" "0000317501" "0" "90" "16" "2121825" "2121825" "dup" "0" "01943" "TSC2_000433" "g.2121825dup" "" "" "" "TSC2(NM_000548.3):c.1987dupC (p.L663Pfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071824dup" "" "pathogenic" "" "0000317502" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "01943" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071868C>T" "" "benign" "" "0000317503" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "01943" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071869G>A" "" "likely benign" "" "0000317504" "0" "90" "16" "2121899" "2121905" "del" "0" "01943" "TSC2_001029" "g.2121899_2121905del" "" "" "" "TSC2(NM_000548.3):c.2061_2067delCCTGCTC (p.L688Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071898_2071904del" "" "pathogenic" "" "0000317506" "0" "10" "16" "2121911" "2121911" "subst" "0.000938692" "01943" "TSC2_000435" "g.2121911C>T" "" "" "" "TSC2(NM_000548.3):c.2073C>T (p.R691=), TSC2(NM_000548.5):c.2073C>T (p.R691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071910C>T" "" "benign" "" "0000317507" "0" "30" "16" "2122238" "2122238" "subst" "0" "01943" "TSC2_003612" "g.2122238G>A" "" "" "" "TSC2(NM_000548.3):c.2098-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072237G>A" "" "likely benign" "" "0000317508" "0" "50" "16" "2122235" "2122237" "del" "0" "01943" "TSC2_002516" "g.2122235_2122237del" "" "" "" "TSC2(NM_000548.3):c.2098-7_2098-5delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072234_2072236del" "" "VUS" "" "0000317510" "0" "90" "16" "2122271" "2122271" "del" "0" "01943" "TSC2_002195" "g.2122271del" "" "" "" "TSC2(NM_000548.3):c.2127delT (p.L710Wfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072270del" "" "pathogenic" "" "0000317511" "0" "90" "16" "2122293" "2122293" "del" "0" "01943" "TSC2_002196" "g.2122293del" "" "" "" "TSC2(NM_000548.3):c.2149delC (p.L717Cfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072292del" "" "pathogenic" "" "0000317513" "0" "90" "16" "2122338" "2122338" "subst" "0" "01943" "TSC2_000249" "g.2122338C>T" "" "" "" "TSC2(NM_000548.3):c.2194C>T (p.Q732*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072337C>T" "" "pathogenic" "" "0000317514" "0" "90" "16" "2122341" "2122341" "subst" "0" "01943" "TSC2_002197" "g.2122341C>G" "" "" "" "TSC2(NM_000548.3):c.2197C>G (p.L733V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072340C>G" "" "pathogenic" "" "0000317515" "0" "90" "16" "2122343" "2122347" "del" "0" "01943" "TSC2_002198" "g.2122343_2122347del" "" "" "" "TSC2(NM_000548.3):c.2199_2203delGTGCT (p.A736Lfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072342_2072346del" "" "pathogenic" "" "0000317516" "0" "90" "16" "2122365" "2122365" "subst" "0" "01943" "TSC2_002199" "g.2122365G>A" "" "" "" "TSC2(NM_000548.3):c.2220+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072364G>A" "" "pathogenic" "" "0000317517" "0" "10" "16" "2122389" "2122389" "subst" "0.00118734" "01943" "TSC2_002200" "g.2122389G>C" "" "" "" "TSC2(NM_000548.3):c.2220+25G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072388G>C" "" "benign" "" "0000317518" "0" "90" "16" "2122366" "2122366" "subst" "0" "01943" "TSC2_002201" "g.2122366T>G" "" "" "" "TSC2(NM_000548.3):c.2220+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072365T>G" "" "pathogenic" "" "0000317519" "0" "10" "16" "2122396" "2122396" "del" "0" "01943" "TSC2_000548" "g.2122396del" "" "" "" "TSC2(NM_000548.3):c.2220+32delG, TSC2(NM_000548.5):c.2220+32delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072395del" "" "benign" "" "0000317521" "0" "90" "16" "2122854" "2122854" "subst" "0" "01943" "TSC2_000250" "g.2122854C>G" "" "" "" "TSC2(NM_000548.3):c.2225C>G (p.S742*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072853C>G" "" "pathogenic" "" "0000317522" "0" "90" "16" "2122860" "2122860" "del" "0" "01943" "TSC2_002357" "g.2122860del" "" "" "" "TSC2(NM_000548.3):c.2231delC (p.P744Qfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072859del" "" "pathogenic" "" "0000317523" "0" "10" "16" "2122868" "2122868" "subst" "0.00118286" "01943" "TSC2_000449" "g.2122868C>T" "" "" "" "TSC2(NM_000548.3):c.2239C>T (p.L747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072867C>T" "" "benign" "" "0000317524" "0" "50" "16" "2100485" "2100485" "subst" "0.000113831" "01943" "TSC2_001225" "g.2100485G>A" "" "" "" "TSC2(NM_001114382.2):c.223G>A (p.E75K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050484G>A" "" "VUS" "" "0000317525" "0" "90" "16" "2100489" "2100489" "subst" "0" "01943" "TSC2_002113" "g.2100489T>A" "" "" "" "TSC2(NM_000548.3):c.225+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050488T>A" "" "pathogenic" "" "0000317526" "0" "10" "16" "2100518" "2100519" "del" "0" "01943" "TSC2_000893" "g.2100518_2100519del" "" "" "" "TSC2(NM_000548.3):c.225+31_225+32delAG, TSC2(NM_000548.5):c.225+31_225+32delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2050517_2050518del" "" "benign" "" "0000317527" "0" "90" "16" "2122880" "2122880" "subst" "0" "01943" "TSC2_000197" "g.2122880C>T" "" "" "" "TSC2(NM_000548.3):c.2251C>T (p.R751*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072879C>T" "" "pathogenic" "" "0000317528" "0" "90" "16" "2103342" "2103342" "subst" "0" "01943" "TSC2_002329" "g.2103342G>A" "" "" "" "TSC2(NM_000548.3):c.226-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053341G>A" "" "pathogenic" "" "0000317529" "0" "90" "16" "2122947" "2122947" "subst" "0" "01943" "TSC2_002203" "g.2122947T>G" "" "" "" "TSC2(NM_000548.3):c.2318T>G (p.L773*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072946T>G" "" "pathogenic" "" "0000317530" "0" "90" "16" "2122982" "2122982" "subst" "0" "01943" "TSC2_000708" "g.2122982C>T" "" "" "" "TSC2(NM_000548.3):c.2353C>T (p.Q785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072981C>T" "" "pathogenic" "" "0000317531" "0" "90" "16" "2122985" "2122985" "subst" "0" "01943" "TSC2_000673" "g.2122985G>A" "" "" "" "TSC2(NM_000548.3):c.2355+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072984G>A" "" "pathogenic" "" "0000317532" "0" "90" "16" "2122986" "2122989" "del" "0" "01943" "TSC2_000254" "g.2122986_2122989del" "" "" "" "TSC2(NM_000548.3):c.2355+2_2355+5delTAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072985_2072988del" "" "pathogenic" "" "0000317533" "0" "30" "16" "2123008" "2123008" "subst" "0.000346077" "01943" "TSC2_003614" "g.2123008C>T" "" "" "" "TSC2(NM_000548.3):c.2355+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2073007C>T" "" "likely benign" "" "0000317534" "0" "30" "16" "2123027" "2123041" "del" "0" "01943" "TSC2_003615" "g.2123027_2123041del" "" "" "" "TSC2(NM_000548.3):c.2355+43_2355+57delGATTCGAGGGCCTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2073026_2073040del" "" "likely benign" "" "0000317535" "0" "90" "16" "2124204" "2124204" "subst" "0" "01943" "TSC2_000454" "g.2124204G>T" "" "" "" "TSC2(NM_000548.3):c.2359G>T (p.E787*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074203G>T" "" "pathogenic" "" "0000317536" "0" "90" "16" "2124215" "2124215" "subst" "0" "01943" "TSC2_002204" "g.2124215C>A" "" "" "" "TSC2(NM_000548.3):c.2370C>A (p.Y790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074214C>A" "" "pathogenic" "" "0000317539" "0" "90" "16" "2124255" "2124255" "subst" "0" "01943" "TSC2_001116" "g.2124255T>C" "" "" "" "TSC2(NM_000548.3):c.2410T>C (p.C804R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074254T>C" "" "pathogenic" "" "0000317540" "0" "90" "16" "2124269" "2124271" "delins" "0" "01943" "TSC2_002206" "g.2124269_2124271delinsT" "" "" "" "TSC2(NM_000548.3):c.2424_2426delGTCinsT (p.L808Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074268_2074270delinsT" "" "pathogenic" "" "0000317541" "0" "10" "16" "2124272" "2124272" "subst" "0.000183152" "01943" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074271C>T" "" "benign" "" "0000317542" "0" "90" "16" "2124285" "2124285" "subst" "0" "01943" "TSC2_000460" "g.2124285G>A" "" "" "" "TSC2(NM_000548.3):c.2440G>A (p.E814K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074284G>A" "" "pathogenic" "" "0000317543" "0" "90" "16" "2124304" "2124306" "del" "0" "01943" "TSC2_000461" "g.2124304_2124306del" "" "" "" "TSC2(NM_000548.3):c.2459_2461delTCA (p.I820del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074303_2074305del" "" "pathogenic" "" "0000317544" "0" "10" "16" "2124321" "2124321" "subst" "0.000663497" "01943" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074320C>A" "" "benign" "" "0000317545" "0" "90" "16" "2124334" "2124334" "subst" "0" "01943" "TSC2_003616" "g.2124334T>C" "" "" "" "TSC2(NM_000548.3):c.2489T>C (p.L830P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074333T>C" "" "pathogenic" "" "0000317546" "0" "10" "16" "2103368" "2103368" "subst" "0.000326174" "01943" "TSC2_000718" "g.2103368C>T" "" "" "" "TSC2(NM_000548.3):c.251C>T (p.A84V), TSC2(NM_000548.5):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053367C>T" "" "benign" "" "0000317547" "0" "30" "16" "2124366" "2124366" "subst" "0" "01943" "TSC2_002617" "g.2124366G>A" "" "" "" "TSC2(NM_000548.3):c.2521G>A (p.V841I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074365G>A" "" "likely benign" "" "0000317548" "0" "10" "16" "2124416" "2124416" "subst" "0.00281194" "01943" "TSC2_000468" "g.2124416G>A" "" "" "" "TSC2(NM_000548.3):c.2545+26G>A, TSC2(NM_000548.5):c.2545+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074415G>A" "" "benign" "" "0000317549" "0" "90" "16" "2124392" "2124392" "subst" "0" "01943" "TSC2_002208" "g.2124392T>C" "" "" "" "TSC2(NM_000548.3):c.2545+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074391T>C" "" "pathogenic" "" "0000317550" "0" "10" "16" "2124421" "2124421" "subst" "0.00129581" "01943" "TSC2_000469" "g.2124421C>T" "" "" "" "TSC2(NM_000548.3):c.2545+31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074420C>T" "" "benign" "" "0000317551" "0" "10" "16" "2124485" "2124485" "dup" "0" "01943" "TSC2_002360" "g.2124485dup" "" "" "" "TSC2(NM_000548.3):c.2545+95dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2074484dup" "" "benign" "" "0000317552" "0" "10" "16" "2125788" "2125788" "subst" "0.0948179" "01943" "TSC2_000312" "g.2125788C>T" "" "" "" "TSC2(NM_000548.3):c.2546-12C>T, TSC2(NM_000548.5):c.2546-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075787C>T" "" "benign" "" "0000317553" "0" "10" "16" "2125769" "2125769" "subst" "0.0105874" "01943" "TSC2_002361" "g.2125769G>A" "" "" "" "TSC2(NM_000548.3):c.2546-31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075768G>A" "" "benign" "" "0000317554" "0" "90" "16" "2125760" "2125773" "del" "0" "01943" "TSC2_002209" "g.2125760_2125773del" "" "" "" "TSC2(NM_000548.3):c.2546-40_2546-27delGGGACCCCGGCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075759_2075772del" "" "pathogenic" "" "0000317555" "0" "10" "16" "2103372" "2103372" "subst" "0.0011761" "01943" "TSC2_000074" "g.2103372C>T" "" "" "" "TSC2(NM_000548.3):c.255C>T (p.(Val85=)), TSC2(NM_000548.5):c.255C>T (p.V85=), TSC2(NM_001114382.2):c.255C>T (p.V85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053371C>T" "" "benign" "" "0000317556" "0" "10" "16" "2125834" "2125834" "subst" "0.0703171" "01943" "TSC2_000054" "g.2125834T>C" "" "" "" "TSC2(NM_000548.3):c.2580T>C (p.F860=), TSC2(NM_000548.5):c.2580T>C (p.F860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075833T>C" "" "benign" "" "0000317557" "0" "90" "16" "2125844" "2125844" "subst" "0" "01943" "TSC2_000133" "g.2125844C>T" "" "" "" "TSC2(NM_000548.3):c.2590C>T (p.Q864*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075843C>T" "" "pathogenic" "" "0000317559" "0" "10" "16" "2125908" "2125908" "subst" "0" "01943" "TSC2_002210" "g.2125908C>T" "" "" "" "TSC2(NM_000548.3):c.2639+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075907C>T" "" "benign" "" "0000317560" "0" "10" "16" "2125935" "2125935" "subst" "0.00027307" "01943" "TSC2_002211" "g.2125935C>T" "" "" "" "TSC2(NM_000548.3):c.2639+42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075934C>T" "" "benign" "" "0000317561" "0" "10" "16" "2125937" "2125937" "subst" "0.106649" "01943" "TSC2_000206" "g.2125937C>G" "" "" "" "TSC2(NM_000548.3):c.2639+44C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075936C>G" "" "benign" "" "0000317562" "0" "90" "16" "2125898" "2125898" "subst" "0" "01943" "TSC2_002212" "g.2125898G>A" "" "" "" "TSC2(NM_000548.3):c.2639+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2075897G>A" "" "pathogenic" "" "0000317563" "0" "90" "16" "2126068" "2126068" "subst" "0" "01943" "TSC2_002213" "g.2126068G>A" "" "" "" "TSC2(NM_000548.3):c.2640-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076067G>A" "" "pathogenic" "" "0000317564" "0" "10" "16" "2126043" "2126043" "subst" "0.000781193" "01943" "TSC2_000953" "g.2126043G>T" "" "" "" "TSC2(NM_000548.3):c.2640-26G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076042G>T" "" "benign" "" "0000317565" "0" "90" "16" "2126116" "2126116" "subst" "0" "01943" "TSC2_000553" "g.2126116G>A" "" "" "" "TSC2(NM_000548.3):c.2687G>A (p.W896*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076115G>A" "" "pathogenic" "" "0000317566" "0" "90" "16" "2103386" "2103389" "del" "0" "01943" "TSC2_002115" "g.2103386_2103389del" "" "" "" "TSC2(NM_000548.3):c.269_272delAGCC (p.Q90Rfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053385_2053388del" "" "pathogenic" "" "0000317567" "0" "90" "16" "2126119" "2126119" "subst" "0" "01943" "TSC2_000313" "g.2126119T>C" "" "" "" "TSC2(NM_000548.3):c.2690T>C (p.F897S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076118T>C" "" "pathogenic" "" "0000317568" "0" "90" "16" "2126142" "2126142" "subst" "0" "01943" "TSC2_000110" "g.2126142C>T" "" "" "" "TSC2(NM_000548.3):c.2713C>T (p.R905W), TSC2(NM_000548.5):c.2713C>T (p.R905W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076141C>T" "" "pathogenic" "" "0000317569" "0" "90" "16" "2126142" "2126142" "del" "0" "01943" "TSC2_002216" "g.2126142del" "" "" "" "TSC2(NM_000548.3):c.2713delC (p.R905Gfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076141del" "" "pathogenic" "" "0000317570" "0" "90" "16" "2126143" "2126143" "subst" "0" "01943" "TSC2_000134" "g.2126143G>A" "" "" "" "TSC2(NM_000548.3):c.2714G>A (p.R905Q), TSC2(NM_000548.5):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076142G>A" "" "pathogenic" "" "0000317571" "0" "90" "16" "2126150" "2126150" "delins" "0" "01943" "TSC2_002363" "g.2126150delinsAG" "" "" "" "TSC2(NM_000548.3):c.2721delTinsAG (p.D907Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076149delinsAG" "" "pathogenic" "" "0000317572" "0" "10" "16" "2103389" "2103389" "subst" "0.000903667" "01943" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053388C>T" "" "benign" "" "0000317573" "0" "90" "16" "2126166" "2126167" "del" "0" "01943" "TSC2_002217" "g.2126166_2126167del" "" "" "" "TSC2(NM_000548.3):c.2737_2738delAC (p.T913*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076165_2076166del" "" "pathogenic" "" "0000317574" "0" "90" "16" "2126172" "2126172" "subst" "0" "01943" "TSC2_000260" "g.2126172G>A" "" "" "" "TSC2(NM_000548.3):c.2742+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076171G>A" "" "pathogenic" "" "0000317575" "0" "90" "16" "2126173" "2126173" "subst" "0" "01943" "TSC2_003160" "g.2126173T>C" "" "" "" "TSC2(NM_000548.3):c.2742+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076172T>C" "" "pathogenic" "" "0000317576" "0" "90" "16" "2126176" "2126176" "subst" "0" "01943" "TSC2_002218" "g.2126176G>A" "" "" "" "TSC2(NM_000548.3):c.2742+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076175G>A" "" "pathogenic" "" "0000317578" "0" "90" "16" "2126483" "2126483" "subst" "0" "01943" "TSC2_001993" "g.2126483C>G" "" "" "" "TSC2(NM_000548.3):c.2743-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076482C>G" "" "pathogenic" "" "0000317579" "0" "90" "16" "2126496" "2126496" "subst" "0" "01943" "TSC2_001091" "g.2126496T>G" "" "" "" "TSC2(NM_000548.3):c.2747T>G (p.L916R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076495T>G" "" "pathogenic" "" "0000317580" "0" "10" "16" "2126499" "2126499" "subst" "8.53749E-5" "01943" "TSC2_002364" "g.2126499G>A" "" "" "" "TSC2(NM_000548.3):c.2750G>A (p.R917Q), TSC2(NM_000548.5):c.2750G>A (p.R917Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076498G>A" "" "benign" "" "0000317581" "0" "30" "16" "2126515" "2126515" "subst" "1.21932E-5" "01943" "TSC2_003617" "g.2126515G>A" "" "" "" "TSC2(NM_000548.3):c.2766G>A (p.L922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076514G>A" "" "likely benign" "" "0000317582" "0" "90" "16" "2126516" "2126518" "delins" "0" "01943" "TSC2_002220" "g.2126516_2126518delinsCC" "" "" "" "TSC2(NM_000548.3):c.2767_2769delTCTinsCC (p.S923Pfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076515_2076517delinsCC" "" "pathogenic" "" "0000317583" "0" "30" "16" "2126572" "2126572" "subst" "6.10322E-5" "01943" "TSC2_003873" "g.2126572C>T" "" "" "" "TSC2(NM_000548.3):c.2823C>T (p.N941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076571C>T" "" "likely benign" "" "0000317584" "0" "10" "16" "2126602" "2126602" "subst" "0" "01943" "TSC2_002365" "g.2126602G>A" "" "" "" "TSC2(NM_000548.3):c.2837+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076601G>A" "" "benign" "" "0000317585" "0" "90" "16" "2127477" "2127477" "subst" "0" "01943" "TSC2_002847" "g.2127477G>A" "" "" "" "TSC2(NM_000548.3):c.2838-122G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077476G>A" "" "pathogenic" "" "0000317586" "0" "10" "16" "2127620" "2127620" "subst" "0" "01943" "TSC2_002367" "g.2127620C>T" "" "" "" "TSC2(NM_000548.3):c.2859C>T (p.P953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077619C>T" "" "benign" "" "0000317587" "0" "90" "16" "2127620" "2127620" "del" "0" "01943" "TSC2_003583" "g.2127620del" "" "" "" "TSC2(NM_000548.3):c.2859delC (p.K954Nfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077619del" "" "pathogenic" "" "0000317588" "0" "70" "16" "2103409" "2103409" "subst" "0" "01943" "TSC2_001996" "g.2103409C>T" "" "" "" "TSC2(NM_000548.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053408C>T" "" "likely pathogenic" "" "0000317589" "0" "10" "16" "2127724" "2127724" "subst" "6.9269E-5" "01943" "TSC2_002021" "g.2127724G>C" "" "" "" "TSC2(NM_000548.3):c.2963G>C (p.R988P), TSC2(NM_000548.5):c.2963G>C (p.R988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077723G>C" "" "benign" "" "0000317592" "0" "90" "16" "2129040" "2129040" "subst" "0" "01943" "TSC2_000137" "g.2129040C>T" "" "" "" "TSC2(NM_000548.3):c.2974C>T (p.Q992*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079039C>T" "" "pathogenic" "" "0000317593" "0" "10" "16" "2129045" "2129045" "subst" "0.000863178" "01943" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079044G>A" "" "benign" "" "0000317594" "0" "30" "16" "2129049" "2129049" "subst" "4.07057E-6" "01943" "TSC2_003618" "g.2129049C>A" "" "" "" "TSC2(NM_000548.3):c.2983C>A (p.L995I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079048C>A" "" "likely benign" "" "0000317595" "0" "90" "16" "2129054" "2129054" "del" "0" "01943" "TSC2_002221" "g.2129054del" "" "" "" "TSC2(NM_000548.3):c.2988delC (p.S997Vfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079053del" "" "pathogenic" "" "0000317596" "0" "90" "16" "2103416" "2103416" "del" "0" "01943" "TSC2_003594" "g.2103416del" "" "" "" "TSC2(NM_000548.3):c.299delC (p.A100Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053415del" "" "pathogenic" "" "0000317597" "0" "10" "16" "2129088" "2129088" "subst" "2.03384E-5" "01943" "TSC2_002370" "g.2129088G>A" "" "" "" "TSC2(NM_000548.3):c.3022G>A (p.V1008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079087G>A" "" "benign" "" "0000317598" "0" "30" "16" "2129102" "2129102" "subst" "0.000130161" "01943" "TSC2_001209" "g.2129102C>T" "" "" "" "TSC2(NM_000548.3):c.3036C>T (p.D1012=), TSC2(NM_000548.5):c.3036C>T (p.D1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079101C>T" "" "likely benign" "" "0000317599" "0" "90" "16" "2129124" "2129124" "dup" "0" "01943" "TSC2_002223" "g.2129124dup" "" "" "" "TSC2(NM_000548.3):c.3058dupC (p.L1020Pfs*148)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079123dup" "" "pathogenic" "" "0000317600" "0" "90" "16" "2129148" "2129148" "subst" "0" "01943" "TSC2_000496" "g.2129148G>A" "" "" "" "TSC2(NM_000548.3):c.3082G>A (p.D1028N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079147G>A" "" "pathogenic" "" "0000317601" "0" "90" "16" "2129160" "2129160" "subst" "0" "01943" "TSC2_000492" "g.2129160C>T" "" "" "" "TSC2(NM_000548.3):c.3094C>T (p.R1032*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079159C>T" "" "pathogenic" "" "0000317602" "0" "90" "16" "2129161" "2129161" "subst" "0" "01943" "TSC2_000739" "g.2129161G>C" "" "" "" "TSC2(NM_000548.3):c.3095G>C (p.R1032P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079160G>C" "" "pathogenic" "" "0000317604" "0" "90" "16" "2129165" "2129165" "subst" "0" "01943" "TSC2_000494" "g.2129165C>A" "" "" "" "TSC2(NM_000548.3):c.3099C>A (p.Y1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079164C>A" "" "pathogenic" "" "0000317605" "0" "90" "16" "2129165" "2129165" "subst" "0" "01943" "TSC2_001057" "g.2129165C>G" "" "" "" "TSC2(NM_000548.3):c.3099C>G (p.Y1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079164C>G" "" "pathogenic" "" "0000317606" "0" "10" "16" "2129192" "2129192" "subst" "0.00313342" "01943" "TSC2_000499" "g.2129192G>C" "" "" "" "TSC2(NM_000548.3):c.3126G>C (p.P1042=), TSC2(NM_000548.5):c.3126G>C (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>C" "" "benign" "" "0000317607" "0" "30" "16" "2129192" "2129192" "subst" "0.000105804" "01943" "TSC2_000760" "g.2129192G>T" "" "" "" "TSC2(NM_000548.3):c.3126G>T (p.P1042=), TSC2(NM_000548.5):c.3126G>T (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079191G>T" "" "likely benign" "" "0000317608" "0" "90" "16" "2129198" "2129198" "subst" "0" "01943" "TSC2_000722" "g.2129198G>A" "" "" "" "TSC2(NM_000548.3):c.3131+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079197G>A" "" "pathogenic" "" "0000317609" "0" "90" "16" "2129199" "2129199" "subst" "0" "01943" "TSC2_002224" "g.2129199T>C" "" "" "" "TSC2(NM_000548.3):c.3131+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079198T>C" "" "pathogenic" "" "0000317610" "0" "30" "16" "2129231" "2129231" "subst" "0.000659384" "01943" "TSC2_000501" "g.2129231C>T" "" "" "" "TSC2(NM_000548.3):c.3131+34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079230C>T" "" "likely benign" "" "0000317611" "0" "90" "16" "2129197" "2129197" "subst" "0" "01943" "TSC2_002226" "g.2129197G>T" "" "" "" "TSC2(NM_000548.3):c.3131G>T (p.R1044M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079196G>T" "" "pathogenic" "" "0000317612" "0" "10" "16" "2129267" "2129267" "subst" "4.06914E-6" "01943" "TSC2_002371" "g.2129267T>C" "" "" "" "TSC2(NM_000548.3):c.3132-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079266T>C" "" "benign" "" "0000317613" "0" "10" "16" "2129261" "2129261" "subst" "6.10426E-5" "01943" "TSC2_002372" "g.2129261G>A" "" "" "" "TSC2(NM_000548.3):c.3132-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079260G>A" "" "benign" "" "0000317614" "0" "90" "16" "2129276" "2129276" "subst" "0" "01943" "TSC2_000265" "g.2129276G>C" "" "" "" "TSC2(NM_000548.3):c.3132-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079275G>C" "" "pathogenic" "" "0000317615" "0" "50" "16" "2103431" "2103431" "subst" "0" "01943" "TSC2_003592" "g.2103431T>C" "" "" "" "TSC2(NM_000548.3):c.314T>C (p.L105P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053430T>C" "" "VUS" "" "0000317616" "0" "90" "16" "2129325" "2129325" "subst" "0" "01943" "TSC2_003453" "g.2129325G>A" "" "" "" "TSC2(NM_000548.3):c.3180G>A (p.W1060*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079324G>A" "" "pathogenic" "" "0000317617" "0" "90" "16" "2129327" "2129327" "subst" "0" "01943" "TSC2_002022" "g.2129327T>C" "" "" "" "TSC2(NM_000548.3):c.3182T>C (p.L1061P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079326T>C" "" "pathogenic" "" "0000317618" "0" "90" "16" "2129348" "2129348" "subst" "0" "01943" "TSC2_002001" "g.2129348C>T" "" "" "" "TSC2(NM_000548.3):c.3203C>T (p.T1068I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079347C>T" "" "pathogenic" "" "0000317619" "0" "30" "16" "2129369" "2129369" "subst" "0" "01943" "TSC2_002002" "g.2129369C>T" "" "" "" "TSC2(NM_000548.3):c.3224C>T (p.T1075I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079368C>T" "" "likely benign" "" "0000317620" "0" "30" "16" "2129370" "2129370" "subst" "4.07126E-5" "01943" "TSC2_002003" "g.2129370C>T" "" "" "" "TSC2(NM_000548.3):c.3225C>T (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079369C>T" "" "likely benign" "" "0000317621" "0" "90" "16" "2129381" "2129381" "subst" "0" "01943" "TSC2_002094" "g.2129381C>A" "" "" "" "TSC2(NM_000548.3):c.3236C>A (p.S1079*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079380C>A" "" "pathogenic" "" "0000317622" "0" "90" "16" "2129404" "2129406" "delins" "0" "01943" "TSC2_002228" "g.2129404_2129406delinsAA" "" "" "" "TSC2(NM_000548.3):c.3259_3261delGAGinsAA (p.E1087Nfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079403_2079405delinsAA" "" "pathogenic" "" "0000317623" "0" "90" "16" "2129404" "2129404" "del" "0" "01943" "TSC2_002229" "g.2129404del" "" "" "" "TSC2(NM_000548.3):c.3259delG (p.E1087Sfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079403del" "" "pathogenic" "" "0000317624" "0" "90" "16" "2129410" "2129410" "subst" "0" "01943" "TSC2_000138" "g.2129410C>T" "" "" "" "TSC2(NM_000548.3):c.3265C>T (p.Q1089*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079409C>T" "" "pathogenic" "" "0000317625" "0" "90" "16" "2129420" "2129420" "del" "0" "01943" "TSC2_002230" "g.2129420del" "" "" "" "TSC2(NM_000548.3):c.3275delC (p.P1092Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079419del" "" "pathogenic" "" "0000317626" "0" "30" "16" "2129421" "2129421" "subst" "4.08017E-6" "01943" "TSC2_003919" "g.2129421G>C" "" "" "" "TSC2(NM_001114382.2):c.3276G>C (p.P1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079420G>C" "" "likely benign" "" "0000317627" "0" "10" "16" "2129426" "2129426" "subst" "0.000151001" "01943" "TSC2_002373" "g.2129426C>T" "" "" "" "TSC2(NM_000548.3):c.3281C>T (p.S1094L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079425C>T" "" "benign" "" "0000317628" "0" "10" "16" "2129474" "2129474" "subst" "0.000470238" "01943" "TSC2_002231" "g.2129474G>A" "" "" "" "TSC2(NM_000548.3):c.3284+45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079473G>A" "" "benign" "" "0000317629" "0" "90" "16" "2103445" "2103445" "subst" "0" "01943" "TSC2_002469" "g.2103445C>T" "" "" "" "TSC2(NM_000548.3):c.328C>T (p.Q110*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053444C>T" "" "pathogenic" "" "0000317630" "0" "90" "16" "2129567" "2129567" "del" "0" "01943" "TSC2_002234" "g.2129567del" "" "" "" "TSC2(NM_000548.3):c.3294delC (p.V1100Cfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079566del" "" "pathogenic" "" "0000317632" "0" "90" "16" "2129583" "2129583" "subst" "0" "01943" "TSC2_002236" "g.2129583C>T" "" "" "" "TSC2(NM_000548.3):c.3310C>T (p.Q1104*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079582C>T" "" "pathogenic" "" "0000317633" "0" "50" "16" "2129587" "2129587" "subst" "0" "01943" "TSC2_003927" "g.2129587C>T" "" "" "" "TSC2(NM_000548.3):c.3314C>T (p.T1105I), TSC2(NM_000548.5):c.3314C>T (p.T1105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079586C>T" "" "VUS" "" "0000317634" "0" "30" "16" "2129591" "2129591" "subst" "0" "01943" "TSC2_003928" "g.2129591G>A" "" "" "" "TSC2(NM_000548.3):c.3318G>A (p.K1106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079590G>A" "" "likely benign" "" "0000317635" "0" "90" "16" "2129610" "2129610" "dup" "0" "01943" "TSC2_002238" "g.2129610dup" "" "" "" "TSC2(NM_000548.3):c.3337dupG (p.E1113Gfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079609dup" "" "pathogenic" "" "0000317636" "0" "90" "16" "2129628" "2129628" "subst" "0" "01943" "TSC2_000512" "g.2129628C>T" "" "" "" "TSC2(NM_000548.3):c.3355C>T (p.Q1119*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079627C>T" "" "pathogenic" "" "0000317638" "0" "10" "16" "2103485" "2103485" "subst" "0.00495738" "01943" "TSC2_000046" "g.2103485C>T" "" "" "" "TSC2(NM_000548.3):c.336+32C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053484C>T" "" "benign" "" "0000317639" "0" "90" "16" "2129671" "2129671" "subst" "0" "01943" "TSC2_001062" "g.2129671G>A" "" "" "" "TSC2(NM_000548.3):c.3397+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079670G>A" "" "pathogenic" "" "0000317640" "0" "50" "16" "2129675" "2129675" "subst" "0" "01943" "TSC2_002239" "g.2129675G>T" "" "" "" "TSC2(NM_000548.3):c.3397+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079674G>T" "" "VUS" "" "0000317641" "0" "90" "16" "2104300" "2104300" "subst" "0" "01943" "TSC2_002118" "g.2104300G>T" "" "" "" "TSC2(NM_000548.3):c.340G>T (p.E114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054299G>T" "" "pathogenic" "" "0000317642" "0" "90" "16" "2130180" "2130180" "subst" "0" "01943" "TSC2_000267" "g.2130180C>T" "" "" "" "TSC2(NM_000548.3):c.3412C>T (p.R1138*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080179C>T" "" "pathogenic" "" "0000317644" "0" "10" "16" "2130190" "2130190" "subst" "0.00137166" "01943" "TSC2_000515" "g.2130190C>T" "" "" "" "TSC2(NM_000548.3):c.3422C>T (p.A1141V), TSC2(NM_000548.5):c.3422C>T (p.A1141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080189C>T" "" "benign" "" "0000317645" "0" "30" "16" "2130198" "2130198" "subst" "0.00024421" "01943" "TSC2_001198" "g.2130198G>A" "" "" "" "TSC2(NM_000548.3):c.3430G>A (p.V1144M, p.(Val1144Met)), TSC2(NM_000548.5):c.3430G>A (p.V1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080197G>A" "" "likely benign" "" "0000317646" "0" "10" "16" "2130202" "2130202" "subst" "3.25598E-5" "01943" "TSC2_001199" "g.2130202C>T" "" "" "" "TSC2(NM_000548.3):c.3434C>T (p.P1145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080201C>T" "" "benign" "" "0000317647" "0" "90" "16" "2104303" "2104303" "del" "0" "01943" "TSC2_002119" "g.2104303del" "" "" "" "TSC2(NM_000548.3):c.343delC (p.R115Vfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054302del" "" "pathogenic" "" "0000317648" "0" "10" "16" "2130250" "2130250" "subst" "2.85072E-5" "01943" "TSC2_002407" "g.2130250C>T" "" "" "" "TSC2(NM_000548.3):c.3482C>T (p.A1161V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080249C>T" "" "benign" "" "0000317649" "0" "10" "16" "2130259" "2130259" "subst" "0.000134333" "01943" "TSC2_000519" "g.2130259C>T" "" "" "" "TSC2(NM_000548.3):c.3491C>T (p.A1164V), TSC2(NM_000548.5):c.3491C>T (p.A1164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080258C>T" "" "benign" "" "0000317650" "0" "50" "16" "2130322" "2130322" "subst" "8.15341E-6" "01943" "TSC2_003941" "g.2130322C>T" "" "" "" "TSC2(NM_000548.3):c.3554C>T (p.A1185V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080321C>T" "" "VUS" "" "0000317651" "0" "90" "16" "2130349" "2130349" "subst" "0" "01943" "TSC2_001200" "g.2130349G>A" "" "" "" "TSC2(NM_000548.3):c.3581G>A (p.W1194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080348G>A" "" "pathogenic" "" "0000317652" "0" "90" "16" "2130364" "2130364" "subst" "0" "01943" "TSC2_002004" "g.2130364T>G" "" "" "" "TSC2(NM_000548.3):c.3596T>G (p.V1199G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080363T>G" "" "pathogenic" "" "0000317653" "0" "90" "16" "2130366" "2130366" "subst" "0" "01943" "TSC2_000056" "g.2130366C>T" "" "" "" "TSC2(NM_000548.3):c.3598C>T (p.R1200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080365C>T" "" "pathogenic" "" "0000317654" "0" "90" "16" "2130367" "2130367" "subst" "0" "01943" "TSC2_002240" "g.2130367G>C" "" "" "" "TSC2(NM_000548.3):c.3599G>C (p.R1200P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080366G>C" "" "pathogenic" "" "0000317655" "0" "90" "16" "2130368" "2130368" "del" "0" "01943" "TSC2_003619" "g.2130368del" "" "" "" "TSC2(NM_000548.3):c.3600delG (p.R1201Gfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080367del" "" "pathogenic" "" "0000317656" "0" "90" "16" "2130373" "2130373" "subst" "0" "01943" "TSC2_002024" "g.2130373C>A" "" "" "" "TSC2(NM_000548.3):c.3605C>A (p.P1202H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080372C>A" "" "pathogenic" "" "0000317657" "0" "90" "16" "2130373" "2130373" "subst" "0" "01943" "TSC2_002241" "g.2130373C>G" "" "" "" "TSC2(NM_000548.3):c.3605C>G (p.P1202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080372C>G" "" "pathogenic" "" "0000317659" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "01943" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2080386C>T" "" "likely benign" "" "0000317660" "0" "90" "16" "2131597" "2131597" "del" "0" "01943" "TSC2_002243" "g.2131597del" "" "" "" "TSC2(NM_000548.3):c.3612delG (p.N1205Tfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081596del" "" "pathogenic" "" "0000317661" "0" "90" "16" "2131608" "2131608" "subst" "0" "01943" "TSC2_002244" "g.2131608G>A" "" "" "" "TSC2(NM_000548.3):c.3623G>A (p.W1208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081607G>A" "" "pathogenic" "" "0000317662" "0" "90" "16" "2131638" "2131655" "del" "0" "01943" "TSC2_002246" "g.2131638_2131655del" "" "" "" "TSC2(NM_000548.3):c.3653_3670delCTTTCTCCTCGGACATCA (p.P1218_N1224delinsH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081637_2081654del" "" "pathogenic" "" "0000317663" "0" "90" "16" "2131647" "2131647" "subst" "0" "01943" "TSC2_000067" "g.2131647C>A" "" "" "" "TSC2(NM_000548.3):c.3662C>A (p.S1221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081646C>A" "" "pathogenic" "" "0000317664" "0" "90" "16" "2131678" "2131681" "del" "0" "01943" "TSC2_000531" "g.2131678_2131681del" "" "" "" "TSC2(NM_000548.3):c.3693_3696delGTCT (p.S1232Tfs*92)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081677_2081680del" "" "pathogenic" "" "0000317667" "0" "30" "16" "2131692" "2131692" "subst" "0" "01943" "TSC2_003586" "g.2131692T>C" "" "" "" "TSC2(NM_000548.3):c.3707T>C (p.M1236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081691T>C" "" "likely benign" "" "0000317668" "0" "90" "16" "2131697" "2131697" "del" "0" "01943" "TSC2_002248" "g.2131697del" "" "" "" "TSC2(NM_000548.3):c.3712delG (p.A1238Lfs*87)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081696del" "" "pathogenic" "" "0000317669" "0" "30" "16" "2131708" "2131708" "subst" "0.000240349" "01943" "TSC2_000255" "g.2131708C>T" "" "" "" "TSC2(NM_000548.5):c.3723C>T (p.F1241=), TSC2(NM_001114382.2):c.3723C>T (p.F1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081707C>T" "" "likely benign" "" "0000317670" "0" "90" "16" "2131735" "2131735" "subst" "0" "01943" "TSC2_000528" "g.2131735C>G" "" "" "" "TSC2(NM_000548.3):c.3750C>G (p.Y1250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081734C>G" "" "pathogenic" "" "0000317671" "0" "30" "16" "2131747" "2131747" "subst" "4.07854E-5" "01943" "TSC2_003967" "g.2131747G>A" "" "" "" "TSC2(NM_001114382.2):c.3762G>A (p.S1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081746G>A" "" "likely benign" "" "0000317672" "0" "50" "16" "2131788" "2131788" "subst" "0.000163084" "01943" "TSC2_001137" "g.2131788G>A" "" "" "" "TSC2(NM_000548.3):c.3803G>A (p.R1268H), TSC2(NM_000548.5):c.3803G>A (p.R1268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081787G>A" "" "VUS" "" "0000317673" "0" "90" "16" "2131800" "2131800" "subst" "0" "01943" "TSC2_002376" "g.2131800G>C" "" "" "" "TSC2(NM_000548.3):c.3814+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2081799G>C" "" "pathogenic" "" "0000317674" "0" "10" "16" "2132493" "2132493" "subst" "2.8578E-5" "01943" "TSC2_002377" "g.2132493G>A" "" "" "" "TSC2(NM_000548.3):c.3871G>A (p.V1291I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082492G>A" "" "benign" "" "0000317675" "0" "10" "16" "2132520" "2132521" "del" "0" "01943" "TSC2_000954" "g.2132520_2132521del" "" "" "" "TSC2(NM_000548.3):c.3883+15_3883+16delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082519_2082520del" "" "benign" "" "0000317676" "0" "10" "16" "2132513" "2132513" "subst" "0.00289752" "01943" "TSC2_000539" "g.2132513C>G" "" "" "" "TSC2(NM_000548.3):c.3883+8C>G, TSC2(NM_000548.5):c.3883+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2082512C>G" "" "benign" "" "0000317678" "0" "10" "16" "2133679" "2133679" "subst" "0.00052936" "01943" "TSC2_000541" "g.2133679C>G" "" "" "" "TSC2(NM_000548.3):c.3884-17C>G, TSC2(NM_000548.5):c.3884-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083678C>G" "" "benign" "" "0000317679" "0" "90" "16" "2133695" "2133695" "subst" "0" "01943" "TSC2_002252" "g.2133695G>C" "" "" "" "TSC2(NM_000548.3):c.3884-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083694G>C" "" "pathogenic" "" "0000317680" "0" "90" "16" "2104348" "2104348" "del" "0" "01943" "TSC2_002120" "g.2104348del" "" "" "" "TSC2(NM_000548.3):c.388delT (p.Y130Tfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054347del" "" "pathogenic" "" "0000317681" "0" "10" "16" "2133726" "2133726" "subst" "0.0018471" "01943" "TSC2_000543" "g.2133726C>T" "" "" "" "TSC2(NM_000548.5):c.3914C>T (p.P1305L), TSC2(NM_001114382.2):c.3845C>T (p.P1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083725C>T" "" "benign" "" "0000317682" "0" "10" "16" "2133727" "2133727" "subst" "0.00475155" "01943" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083726G>A" "" "benign" "" "0000317683" "0" "10" "16" "2133755" "2133755" "subst" "0" "01943" "TSC2_002005" "g.2133755C>G" "" "" "" "TSC2(NM_000548.3):c.3943C>G (p.P1315A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083754C>G" "" "benign" "" "0000317684" "0" "90" "16" "2104355" "2104356" "del" "0" "01943" "TSC2_002121" "g.2104355_2104356del" "" "" "" "TSC2(NM_000548.3):c.395_396delCC (p.S132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054354_2054355del" "" "pathogenic" "" "0000317685" "0" "90" "16" "2133764" "2133773" "del" "0" "01943" "TSC2_002250" "g.2133764_2133773del" "" "" "" "TSC2(NM_000548.3):c.3952_3961delGAGGACGTTG (p.E1318Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083763_2083772del" "" "pathogenic" "" "0000317686" "0" "10" "16" "2104355" "2104355" "subst" "0" "01943" "TSC2_001086" "g.2104355C>G" "" "" "" "TSC2(NM_000548.3):c.395C>G (p.S132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054354C>G" "" "benign" "" "0000317687" "0" "10" "16" "2133780" "2133780" "subst" "5.39486E-5" "01943" "TSC2_002378" "g.2133780C>T" "" "" "" "TSC2(NM_000548.3):c.3968C>T (p.A1323V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083779C>T" "" "benign" "" "0000317688" "0" "30" "16" "2133781" "2133781" "subst" "4.9776E-5" "01943" "TSC2_003623" "g.2133781G>A" "" "" "" "TSC2(NM_000548.3):c.3969G>A (p.A1323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083780G>A" "" "likely benign" "" "0000317689" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "01943" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083797G>A" "" "benign" "" "0000317690" "0" "30" "16" "2133802" "2133802" "subst" "2.49321E-5" "01943" "TSC2_003986" "g.2133802G>A" "" "" "" "TSC2(NM_001114382.2):c.3921G>A (p.T1307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083801G>A" "" "likely benign" "" "0000317691" "0" "90" "16" "2133811" "2133811" "del" "0" "01943" "TSC2_002251" "g.2133811del" "" "" "" "TSC2(NM_000548.3):c.3999delC (p.Y1333*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083810del" "" "pathogenic" "" "0000317692" "0" "90" "16" "2133818" "2133818" "subst" "0" "01943" "TSC2_002547" "g.2133818G>A" "" "" "" "TSC2(NM_000548.3):c.4005+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083817G>A" "" "pathogenic" "" "0000317693" "0" "30" "16" "2134210" "2134210" "subst" "1.17596E-5" "01943" "TSC2_003585" "g.2134210T>G" "" "" "" "TSC2(NM_000548.3):c.4006-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084209T>G" "" "likely benign" "" "0000317694" "0" "10" "16" "2134199" "2134200" "del" "0.000108111" "01943" "TSC2_002380" "g.2134199_2134200del" "" "" "" "TSC2(NM_000548.3):c.4006-30_4006-29delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084198_2084199del" "" "benign" "" "0000317695" "0" "30" "16" "2134221" "2134221" "subst" "0.00247118" "01943" "TSC2_000917" "g.2134221C>T" "" "" "" "TSC2(NM_000548.3):c.4006-8C>T, TSC2(NM_000548.5):c.4006-8C>T, TSC2(NM_001114382.2):c.3937-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084220C>T" "" "likely benign" "" "0000317696" "0" "90" "16" "2134247" "2134247" "subst" "0" "01943" "TSC2_002255" "g.2134247C>T" "" "" "" "TSC2(NM_000548.3):c.4024C>T (p.Q1342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084246C>T" "" "pathogenic" "" "0000317697" "0" "90" "16" "2134253" "2134253" "subst" "0" "01943" "TSC2_002256" "g.2134253G>T" "" "" "" "TSC2(NM_000548.3):c.4030G>T (p.E1344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084252G>T" "" "pathogenic" "" "0000317698" "0" "90" "16" "2134284" "2134284" "del" "0" "01943" "TSC2_002257" "g.2134284del" "" "" "" "TSC2(NM_000548.3):c.4061delG (p.G1354Afs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084283del" "" "pathogenic" "" "0000317699" "0" "90" "16" "2134301" "2134301" "subst" "0" "01943" "TSC2_002258" "g.2134301G>T" "" "" "" "TSC2(NM_000548.3):c.4078G>T (p.E1360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084300G>T" "" "pathogenic" "" "0000317700" "0" "10" "16" "2134308" "2134308" "subst" "0" "01943" "TSC2_002381" "g.2134308T>A" "" "" "" "TSC2(NM_000548.3):c.4085T>A (p.V1362D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084307T>A" "" "benign" "" "0000317702" "0" "30" "16" "2134318" "2134318" "subst" "0.000286655" "01943" "TSC2_002260" "g.2134318G>A" "" "" "" "TSC2(NM_000548.3):c.4095G>A (p.S1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084317G>A" "" "likely benign" "" "0000317703" "0" "90" "16" "2134322" "2134323" "del" "0" "01943" "TSC2_003624" "g.2134322_2134323del" "" "" "" "TSC2(NM_000548.3):c.4099_4100delGG (p.G1367Wfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084321_2084322del" "" "pathogenic" "" "0000317704" "0" "90" "16" "2134346" "2134347" "del" "0" "01943" "TSC2_001002" "g.2134346_2134347del" "" "" "" "TSC2(NM_000548.3):c.4123_4124delTC (p.S1375Lfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084345_2084346del" "" "pathogenic" "" "0000317705" "0" "90" "16" "2134352" "2134352" "subst" "0" "01943" "TSC2_000559" "g.2134352C>T" "" "" "" "TSC2(NM_000548.3):c.4129C>T (p.Q1377*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084351C>T" "" "pathogenic" "" "0000317706" "0" "30" "16" "2134359" "2134359" "subst" "2.45278E-5" "01943" "TSC2_002068" "g.2134359C>T" "" "" "" "TSC2(NM_000548.3):c.4136C>T (p.S1379L), TSC2(NM_000548.5):c.4136C>T (p.(Ser1379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084358C>T" "" "likely benign" "" "0000317707" "0" "50" "16" "2134363" "2134363" "subst" "0" "01943" "TSC2_004006" "g.2134363G>T" "" "" "" "TSC2(NM_000548.3):c.4140G>T (p.Q1380H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084362G>T" "" "VUS" "" "0000317708" "0" "90" "16" "2134391" "2134391" "subst" "0" "01943" "TSC2_002261" "g.2134391G>T" "" "" "" "TSC2(NM_000548.3):c.4168G>T (p.E1390*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084390G>T" "" "pathogenic" "" "0000317709" "0" "90" "16" "2134403" "2134404" "del" "0" "01943" "TSC2_000565" "g.2134403_2134404del" "" "" "" "TSC2(NM_000548.3):c.4180_4181delCT (p.L1394Afs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084402_2084403del" "" "pathogenic" "" "0000317710" "0" "90" "16" "2134406" "2134406" "subst" "0" "01943" "TSC2_002882" "g.2134406C>T" "" "" "" "TSC2(NM_000548.3):c.4183C>T (p.Q1395*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084405C>T" "" "pathogenic" "" "0000317711" "0" "10" "16" "2134418" "2134418" "subst" "0.000328838" "01943" "TSC2_000566" "g.2134418G>A" "" "" "" "TSC2(NM_000548.3):c.4195G>A (p.G1399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084417G>A" "" "benign" "" "0000317712" "0" "90" "16" "2134430" "2134430" "dup" "0" "01943" "TSC2_002263" "g.2134430dup" "" "" "" "TSC2(NM_000548.3):c.4207dupG (p.D1403Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084429dup" "" "pathogenic" "" "0000317713" "0" "10" "16" "2134438" "2134438" "subst" "0.00890403" "01943" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084437C>T" "" "benign" "" "0000317714" "0" "90" "16" "2134472" "2134472" "del" "0" "01943" "TSC2_000859" "g.2134472del" "" "" "" "TSC2(NM_000548.3):c.4249delC (p.R1417Gfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084471del" "" "pathogenic" "" "0000317715" "0" "90" "16" "2134478" "2134478" "subst" "0" "01943" "TSC2_000073" "g.2134478C>T" "" "" "" "TSC2(NM_000548.3):c.4255C>T (p.Q1419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084477C>T" "" "pathogenic" "" "0000317716" "0" "90" "16" "2134478" "2134478" "del" "0" "01943" "TSC2_000561" "g.2134478del" "" "" "" "TSC2(NM_000548.3):c.4255delC (p.Q1419Sfs*57)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084477del" "" "pathogenic" "" "0000317717" "0" "90" "16" "2134481" "2134484" "del" "0" "01943" "TSC2_000320" "g.2134481_2134484del" "" "" "" "TSC2(NM_000548.3):c.4258_4261delTCAG (p.S1420Gfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084480_2084483del" "" "pathogenic" "" "0000317718" "0" "90" "16" "2134482" "2134482" "subst" "0" "01943" "TSC2_003625" "g.2134482C>A" "" "" "" "TSC2(NM_000548.3):c.4259C>A (p.S1420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084481C>A" "" "pathogenic" "" "0000317719" "0" "90" "16" "2134483" "2134484" "del" "0" "01943" "TSC2_002264" "g.2134483_2134484del" "" "" "" "TSC2(NM_000548.3):c.4260_4261delAG (p.G1421Dfs*102)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084482_2084483del" "" "pathogenic" "" "0000317720" "0" "90" "16" "2134489" "2134495" "del" "0" "01943" "TSC2_002265" "g.2134489_2134495del" "" "" "" "TSC2(NM_000548.3):c.4266_4272delCCTGGAC (p.L1423Gfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084488_2084494del" "" "pathogenic" "" "0000317721" "0" "10" "16" "2134492" "2134492" "subst" "0.00269103" "01943" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084491G>A" "" "benign" "" "0000317722" "0" "30" "16" "2134495" "2134495" "subst" "0.000110922" "01943" "TSC2_002884" "g.2134495C>T" "" "" "" "TSC2(NM_001114382.2):c.4203C>T (p.D1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084494C>T" "" "likely benign" "" "0000317723" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "01943" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084507G>T" "" "benign" "" "0000317724" "0" "90" "16" "2134513" "2134513" "subst" "0" "01943" "TSC2_000574" "g.2134513G>A" "" "" "" "TSC2(NM_000548.3):c.4290G>A (p.W1430*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084512G>A" "" "pathogenic" "" "0000317725" "0" "30" "16" "2134521" "2134521" "subst" "1.70245E-5" "01943" "TSC2_002006" "g.2134521C>T" "" "" "" "TSC2(NM_000548.3):c.4298C>T (p.S1433L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084520C>T" "" "likely benign" "" "0000317726" "0" "30" "16" "2134522" "2134522" "subst" "5.94955E-5" "01943" "TSC2_003206" "g.2134522G>A" "" "" "" "TSC2(NM_000548.3):c.4299G>A (p.S1433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084521G>A" "" "likely benign" "" "0000317727" "0" "10" "16" "2104389" "2104389" "subst" "0" "01943" "TSC2_001089" "g.2104389C>G" "" "" "" "TSC2(NM_000548.3):c.429C>G (p.F143L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054388C>G" "" "benign" "" "0000317728" "0" "90" "16" "2134532" "2134535" "del" "0" "01943" "TSC2_000575" "g.2134532_2134535del" "" "" "" "TSC2(NM_000548.3):c.4309_4312delAGTC (p.S1437Gfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084531_2084534del" "" "pathogenic" "" "0000317729" "0" "90" "16" "2134539" "2134539" "del" "0" "01943" "TSC2_002268" "g.2134539del" "" "" "" "TSC2(NM_000548.3):c.4316delG (p.G1439Afs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084538del" "" "pathogenic" "" "0000317730" "0" "10" "16" "2134539" "2134539" "subst" "0.00111788" "01943" "TSC2_002007" "g.2134539G>A" "" "" "" "TSC2(NM_000548.3):c.4316G>A (p.G1439D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084538G>A" "" "benign" "" "0000317731" "0" "90" "16" "2134547" "2134547" "del" "0" "01943" "TSC2_002269" "g.2134547del" "" "" "" "TSC2(NM_000548.3):c.4324delG (p.E1442Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084546del" "" "pathogenic" "" "0000317732" "0" "90" "16" "2104395" "2104396" "delins" "0" "01943" "TSC2_003595" "g.2104395_2104396delinsT" "" "" "" "TSC2(NM_000548.3):c.435_436delCCinsT (p.L146Sfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054394_2054395delinsT" "" "pathogenic" "" "0000317733" "0" "90" "16" "2134574" "2134574" "del" "0" "01943" "TSC2_002270" "g.2134574del" "" "" "" "TSC2(NM_000548.3):c.4351delC (p.R1451Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084573del" "" "pathogenic" "" "0000317734" "0" "90" "16" "2134574" "2134574" "dup" "0" "01943" "TSC2_001172" "g.2134574dup" "" "" "" "TSC2(NM_000548.3):c.4351dupC (p.R1451Pfs*73)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084573dup" "" "pathogenic" "" "0000317736" "0" "90" "16" "2134598" "2134598" "subst" "0" "01943" "TSC2_000221" "g.2134598C>T" "" "" "" "TSC2(NM_000548.3):c.4375C>T (p.R1459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084597C>T" "" "pathogenic" "" "0000317737" "0" "90" "16" "2134598" "2134598" "del" "0" "01943" "TSC2_002271" "g.2134598del" "" "" "" "TSC2(NM_000548.3):c.4375delC (p.R1459Efs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084597del" "" "pathogenic" "" "0000317738" "0" "90" "16" "2134606" "2134606" "subst" "0" "01943" "TSC2_002383" "g.2134606C>G" "" "" "" "TSC2(NM_000548.3):c.4383C>G (p.Y1461*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084605C>G" "" "pathogenic" "" "0000317740" "0" "10" "16" "2134637" "2134637" "subst" "3.40515E-5" "01943" "TSC2_004039" "g.2134637G>A" "" "" "" "TSC2(NM_000548.3):c.4414G>A (p.G1472S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084636G>A" "" "benign" "" "0000317741" "0" "90" "16" "2134641" "2134641" "dup" "0" "01943" "TSC2_002889" "g.2134641dup" "" "" "" "TSC2(NM_000548.3):c.4418dupA (p.R1474Efs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084640dup" "" "pathogenic" "" "0000317742" "0" "90" "16" "2134645" "2134646" "del" "0" "01943" "TSC2_000582" "g.2134645_2134646del" "" "" "" "TSC2(NM_000548.3):c.4422_4423delAG (p.R1474Sfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084644_2084645del" "" "pathogenic" "" "0000317743" "0" "90" "16" "2134696" "2134696" "dup" "0" "01943" "TSC2_002274" "g.2134696dup" "" "" "" "TSC2(NM_000548.3):c.4473dupA (p.V1492Sfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084695dup" "" "pathogenic" "" "0000317744" "0" "90" "16" "2134712" "2134712" "subst" "0" "01943" "TSC2_002025" "g.2134712C>T" "" "" "" "TSC2(NM_000548.3):c.4489C>T (p.P1497S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084711C>T" "" "pathogenic" "" "0000317745" "0" "50" "16" "2134713" "2134713" "subst" "0" "01943" "TSC2_000224" "g.2134713C>G" "" "" "" "TSC2(NM_000548.3):c.4490C>G (p.P1497R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084712C>G" "" "VUS" "" "0000317746" "0" "90" "16" "2134717" "2134717" "del" "0" "01943" "TSC2_002275" "g.2134717del" "" "" "" "TSC2(NM_000548.3):c.4493+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084716del" "" "pathogenic" "" "0000317747" "0" "90" "16" "2134716" "2134716" "subst" "0" "01943" "TSC2_000225" "g.2134716G>A" "" "" "" "TSC2(NM_000548.3):c.4493G>A (p.S1498N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084715G>A" "" "pathogenic" "" "0000317748" "0" "50" "16" "2134716" "2134716" "subst" "0" "01943" "TSC2_002325" "g.2134716G>C" "" "" "" "TSC2(NM_000548.3):c.4493G>C (p.S1498T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084715G>C" "" "VUS" "" "0000317749" "0" "30" "16" "2134940" "2134940" "dup" "0" "01943" "TSC2_004050" "g.2134940dup" "" "" "" "TSC2(NM_000548.3):c.4494-12dupC, TSC2(NM_000548.5):c.4494-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084939dup" "" "likely benign" "" "0000317750" "0" "90" "16" "2134951" "2134951" "subst" "0" "01943" "TSC2_001109" "g.2134951G>C" "" "" "" "TSC2(NM_000548.3):c.4494-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084950G>C" "" "pathogenic" "" "0000317751" "0" "90" "16" "2134949" "2134950" "del" "0" "01943" "TSC2_002277" "g.2134949_2134950del" "" "" "" "TSC2(NM_000548.3):c.4494-3_4494-2delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084948_2084949del" "" "pathogenic" "" "0000317752" "0" "90" "16" "2134954" "2134954" "dup" "0" "01943" "TSC2_002387" "g.2134954dup" "" "" "" "TSC2(NM_000548.3):c.4496dupT (p.V1500Rfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084953dup" "" "pathogenic" "" "0000317753" "0" "90" "16" "2134965" "2134965" "subst" "0" "01943" "TSC2_000279" "g.2134965C>T" "" "" "" "TSC2(NM_000548.3):c.4507C>T (p.Q1503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084964C>T" "" "pathogenic" "" "0000317754" "0" "90" "16" "2134973" "2134973" "subst" "0" "01943" "TSC2_001994" "g.2134973C>G" "" "" "" "TSC2(NM_000548.3):c.4515C>G (p.Y1505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084972C>G" "" "pathogenic" "" "0000317755" "0" "10" "16" "2134985" "2134987" "del" "0" "01943" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084984_2084986del" "" "benign" "" "0000317756" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "01943" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084993C>T" "" "likely benign" "" "0000317757" "0" "90" "16" "2134995" "2134995" "subst" "0" "01943" "TSC2_003626" "g.2134995G>T" "" "" "" "TSC2(NM_000548.3):c.4537G>T (p.E1513*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084994G>T" "" "pathogenic" "" "0000317758" "0" "90" "16" "2135002" "2135005" "del" "0" "01943" "TSC2_000590" "g.2135002_2135005del" "" "" "" "TSC2(NM_000548.3):c.4544_4547delACAA (p.N1515Sfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085001_2085004del" "" "pathogenic" "" "0000317759" "0" "10" "16" "2135071" "2135071" "subst" "0.00224715" "01943" "TSC2_002278" "g.2135071C>T" "" "" "" "TSC2(NM_000548.3):c.4569+44C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085070C>T" "" "benign" "" "0000317760" "0" "10" "16" "2135073" "2135073" "subst" "0.0103297" "01943" "TSC2_000923" "g.2135073C>T" "" "" "" "TSC2(NM_000548.3):c.4569+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085072C>T" "" "benign" "" "0000317761" "0" "10" "16" "2135074" "2135074" "subst" "0.00457483" "01943" "TSC2_000924" "g.2135074G>A" "" "" "" "TSC2(NM_000548.3):c.4569+47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085073G>A" "" "benign" "" "0000317762" "0" "10" "16" "2135107" "2135107" "subst" "0" "01943" "TSC2_002279" "g.2135107G>A" "" "" "" "TSC2(NM_000548.3):c.4569+80G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085106G>A" "" "benign" "" "0000317763" "0" "90" "16" "2135234" "2135234" "subst" "0" "01943" "TSC2_000694" "g.2135234C>T" "" "" "" "TSC2(NM_000548.3):c.4573C>T (p.Q1525*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085233C>T" "" "pathogenic" "" "0000317764" "0" "50" "16" "2135251" "2135251" "subst" "8.1477E-6" "01943" "TSC2_003627" "g.2135251G>A" "" "" "" "TSC2(NM_000548.3):c.4590G>A (p.S1530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085250G>A" "" "VUS" "" "0000317765" "0" "30" "16" "2135260" "2135260" "subst" "2.03654E-5" "01943" "TSC2_004069" "g.2135260C>T" "" "" "" "TSC2(NM_000548.3):c.4599C>T (p.L1533=), TSC2(NM_000548.5):c.4599C>T (p.L1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085259C>T" "" "likely benign" "" "0000317766" "0" "90" "16" "2135262" "2135262" "subst" "0" "01943" "TSC2_001084" "g.2135262T>A" "" "" "" "TSC2(NM_000548.3):c.4601T>A (p.L1534H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085261T>A" "" "pathogenic" "" "0000317767" "0" "10" "16" "2135266" "2135266" "subst" "0" "01943" "TSC2_000922" "g.2135266C>T" "" "" "" "TSC2(NM_000548.3):c.4605C>T (p.D1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085265C>T" "" "benign" "" "0000317768" "0" "90" "16" "2135267" "2135267" "subst" "0" "01943" "TSC2_000333" "g.2135267C>T" "" "" "" "TSC2(NM_000548.3):c.4606C>T (p.Q1536*), TSC2(NM_000548.5):c.4606C>T (p.Q1536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085266C>T" "" "pathogenic" "" "0000317769" "0" "90" "16" "2135281" "2135281" "subst" "0" "01943" "TSC2_000596" "g.2135281C>G" "" "" "" "TSC2(NM_000548.3):c.4620C>G (p.Y1540*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085280C>G" "" "pathogenic" "" "0000317770" "0" "30" "16" "2135281" "2135281" "subst" "5.29488E-5" "01943" "TSC2_003643" "g.2135281C>T" "" "" "" "TSC2(NM_000548.3):c.4620C>T (p.Y1540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085280C>T" "" "likely benign" "" "0000317771" "0" "90" "16" "2135282" "2135282" "del" "0" "01943" "TSC2_002280" "g.2135282del" "" "" "" "TSC2(NM_000548.3):c.4621delG (p.D1541Tfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085281del" "" "pathogenic" "" "0000317772" "0" "10" "16" "2135299" "2135299" "subst" "0.000822945" "01943" "TSC2_000958" "g.2135299C>T" "" "" "" "TSC2(NM_000548.3):c.4638C>T (p.A1546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085298C>T" "" "benign" "" "0000317773" "0" "90" "16" "2135301" "2135301" "subst" "0" "01943" "TSC2_002281" "g.2135301T>G" "" "" "" "TSC2(NM_000548.3):c.4640T>G (p.V1547G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085300T>G" "" "pathogenic" "" "0000317774" "0" "90" "16" "2135304" "2135304" "subst" "0" "01943" "TSC2_001249" "g.2135304T>C" "" "" "" "TSC2(NM_000548.3):c.4643T>C (p.L1548P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085303T>C" "" "pathogenic" "" "0000317775" "0" "90" "16" "2135308" "2135308" "subst" "0" "01943" "TSC2_002282" "g.2135308T>A" "" "" "" "TSC2(NM_000548.3):c.4647T>A (p.Y1549*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085307T>A" "" "pathogenic" "" "0000317776" "0" "90" "16" "2135315" "2135315" "subst" "0" "01943" "TSC2_002283" "g.2135315G>T" "" "" "" "TSC2(NM_000548.3):c.4654G>T (p.E1552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085314G>T" "" "pathogenic" "" "0000317777" "0" "90" "16" "2135316" "2135318" "del" "0" "01943" "TSC2_000280" "g.2135316_2135318del" "" "" "" "TSC2(NM_000548.3):c.4655_4657delAAG (p.E1552del), TSC2(NM_001114382.2):c.4586_4588delAAG (p.E1529del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085315_2085317del" "" "pathogenic" "" "0000317778" "0" "30" "16" "2104425" "2104425" "subst" "5.27893E-5" "01943" "TSC2_002122" "g.2104425C>T" "" "" "" "TSC2(NM_000548.3):c.465C>T (p.Y155=), TSC2(NM_000548.5):c.465C>T (p.Y155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054424C>T" "" "likely benign" "" "0000317779" "0" "30" "16" "2135334" "2135334" "subst" "4.0819E-5" "01943" "TSC2_002562" "g.2135334G>A" "" "" "" "TSC2(NM_000548.3):c.4662+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085333G>A" "" "likely benign" "" "0000317780" "0" "10" "16" "2135341" "2135341" "subst" "0.000130828" "01943" "TSC2_000023" "g.2135341G>A" "" "" "" "TSC2(NM_000548.3):c.4662+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085340G>A" "" "benign" "" "0000317781" "0" "50" "16" "2135323" "2135323" "subst" "0" "01943" "TSC2_002071" "g.2135323G>C" "" "" "" "TSC2(NM_000548.3):c.4662G>C (p.Q1554H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085322G>C" "" "VUS" "" "0000317782" "0" "10" "16" "2136180" "2136180" "subst" "2.04641E-5" "01943" "TSC2_002284" "g.2136180C>T" "" "" "" "TSC2(NM_000548.3):c.4663-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086179C>T" "" "benign" "" "0000317784" "0" "30" "16" "2136202" "2136202" "subst" "5.71158E-5" "01943" "TSC2_004088" "g.2136202C>T" "" "" "" "TSC2(NM_000548.3):c.4671C>T (p.S1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086201C>T" "" "likely benign" "" "0000317785" "0" "90" "16" "2136203" "2136203" "subst" "0" "01943" "TSC2_000334" "g.2136203G>A" "" "" "" "TSC2(NM_000548.3):c.4672G>A (p.E1558K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086202G>A" "" "pathogenic" "" "0000317786" "0" "50" "16" "2136231" "2136231" "subst" "0" "01943" "TSC2_000606" "g.2136231G>A" "" "" "" "TSC2(NM_000548.3):c.4700G>A (p.G1567D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086230G>A" "" "VUS" "" "0000317787" "0" "90" "16" "2136231" "2136231" "subst" "0" "01943" "TSC2_002009" "g.2136231G>T" "" "" "" "TSC2(NM_000548.3):c.4700G>T (p.G1567V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086230G>T" "" "pathogenic" "" "0000317788" "0" "90" "16" "2136238" "2136238" "subst" "0" "01943" "TSC2_002391" "g.2136238C>G" "" "" "" "TSC2(NM_000548.3):c.4707C>G (p.Y1569*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086237C>G" "" "pathogenic" "" "0000317789" "0" "90" "16" "2136240" "2136240" "subst" "0" "01943" "TSC2_002287" "g.2136240G>C" "" "" "" "TSC2(NM_000548.3):c.4709G>C (p.R1570T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086239G>C" "" "pathogenic" "" "0000317790" "0" "90" "16" "2136264" "2136264" "subst" "0" "01943" "TSC2_000865" "g.2136264T>C" "" "" "" "TSC2(NM_000548.3):c.4733T>C (p.L1578P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086263T>C" "" "pathogenic" "" "0000317791" "0" "90" "16" "2136267" "2136267" "subst" "0" "01943" "TSC2_002289" "g.2136267G>T" "" "" "" "TSC2(NM_000548.3):c.4736G>T (p.G1579V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086266G>T" "" "pathogenic" "" "0000317793" "0" "90" "16" "2104438" "2104438" "subst" "0" "01943" "TSC2_000154" "g.2104438C>G" "" "" "" "TSC2(NM_000548.3):c.478C>G (p.L160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054437C>G" "" "pathogenic" "" "0000317794" "0" "30" "16" "2136340" "2136340" "subst" "0.000106199" "01943" "TSC2_003224" "g.2136340C>T" "" "" "" "TSC2(NM_000548.3):c.4809C>T (p.D1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086339C>T" "" "likely benign" "" "0000317795" "0" "10" "16" "2104462" "2104462" "subst" "4.06263E-6" "01943" "TSC2_002331" "g.2104462G>C" "" "" "" "TSC2(NM_000548.3):c.481+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054461G>C" "" "benign" "" "0000317796" "0" "90" "16" "2104446" "2104446" "subst" "0" "01943" "TSC2_001146" "g.2104446G>A" "" "" "" "TSC2(NM_000548.3):c.481+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054445G>A" "" "pathogenic" "" "0000317797" "0" "90" "16" "2104446" "2104446" "subst" "0" "01943" "TSC2_000966" "g.2104446G>T" "" "" "" "TSC2(NM_000548.3):c.481+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2054445G>T" "" "pathogenic" "" "0000317798" "0" "10" "16" "2136343" "2136343" "subst" "1.63465E-5" "01943" "TSC2_002392" "g.2136343C>A" "" "" "" "TSC2(NM_000548.3):c.4812C>A (p.G1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086342C>A" "" "benign" "" "0000317799" "0" "90" "16" "2105402" "2105402" "subst" "0" "01943" "TSC2_000968" "g.2105402G>C" "" "" "" "TSC2(NM_000548.3):c.482-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055401G>C" "" "pathogenic" "" "0000317800" "0" "10" "16" "2105400" "2105400" "subst" "0.0871488" "01943" "TSC2_000156" "g.2105400C>T" "" "" "" "TSC2(NM_000548.3):c.482-3C>T, TSC2(NM_000548.5):c.482-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055399C>T" "" "benign" "" "0000317801" "0" "90" "16" "2136354" "2136356" "del" "0" "01943" "TSC2_000612" "g.2136354_2136356del" "" "" "" "TSC2(NM_000548.3):c.4823_4825delACT (p.Y1608del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086353_2086355del" "" "pathogenic" "" "0000317802" "0" "90" "16" "2136361" "2136361" "subst" "0" "01943" "TSC2_000615" "g.2136361G>A" "" "" "" "TSC2(NM_000548.3):c.4830G>A (p.W1610*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086360G>A" "" "pathogenic" "" "0000317803" "0" "90" "16" "2136373" "2136375" "del" "0" "01943" "TSC2_000118" "g.2136373_2136375del" "" "" "" "TSC2(NM_000548.3):c.4842_4844delCAT (p.I1614del), TSC2(NM_001114382.3):c.4773_4775delCAT (p.I1591del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086372_2086374del" "" "pathogenic" "" "0000317804" "0" "90" "16" "2136377" "2136377" "subst" "0" "01943" "TSC2_000788" "g.2136377C>T" "" "" "" "TSC2(NM_000548.3):c.4846C>T (p.Q1616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086376C>T" "" "pathogenic" "" "0000317805" "0" "90" "16" "2136382" "2136382" "subst" "0" "01943" "TSC2_002291" "g.2136382T>A" "" "" "" "TSC2(NM_000548.3):c.4849+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086381T>A" "" "pathogenic" "" "0000317806" "0" "10" "16" "2136428" "2136428" "subst" "5.40371E-5" "01943" "TSC2_002393" "g.2136428C>T" "" "" "" "TSC2(NM_000548.3):c.4849+48C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086427C>T" "" "benign" "" "0000317807" "0" "10" "16" "2136456" "2136456" "subst" "0" "01943" "TSC2_002292" "g.2136456G>A" "" "" "" "TSC2(NM_000548.3):c.4849+76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086455G>A" "" "benign" "" "0000317808" "0" "10" "16" "2136719" "2136719" "subst" "1.23109E-5" "01943" "TSC2_002394" "g.2136719C>G" "" "" "" "TSC2(NM_000548.3):c.4850-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086718C>G" "" "benign" "" "0000317809" "0" "30" "16" "2136710" "2136710" "subst" "4.12327E-6" "01943" "TSC2_002294" "g.2136710C>T" "" "" "" "TSC2(NM_000548.3):c.4850-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086709C>T" "" "likely benign" "" "0000317810" "0" "90" "16" "2136730" "2136730" "subst" "0" "01943" "TSC2_002296" "g.2136730C>G" "" "" "" "TSC2(NM_000548.3):c.4850-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086729C>G" "" "pathogenic" "" "0000317811" "0" "90" "16" "2136738" "2136740" "del" "0" "01943" "TSC2_002297" "g.2136738_2136740del" "" "" "" "TSC2(NM_000548.3):c.4855_4857delTTC (p.F1619del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086737_2086739del" "" "pathogenic" "" "0000317812" "0" "90" "16" "2136739" "2136739" "subst" "0" "01943" "TSC2_000870" "g.2136739T>C" "" "" "" "TSC2(NM_000548.3):c.4856T>C (p.F1619S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086738T>C" "" "pathogenic" "" "0000317813" "0" "90" "16" "2136741" "2136741" "subst" "0" "01943" "TSC2_000285" "g.2136741C>T" "" "" "" "TSC2(NM_000548.3):c.4858C>T (p.H1620Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086740C>T" "" "pathogenic" "" "0000317814" "0" "90" "16" "2136751" "2136751" "subst" "0" "01943" "TSC2_001241" "g.2136751C>T" "" "" "" "TSC2(NM_000548.3):c.4868C>T (p.T1623I), TSC2(NM_000548.5):c.4868C>T (p.T1623I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086750C>T" "" "pathogenic" "" "0000317815" "0" "90" "16" "2136753" "2136754" "del" "0" "01943" "TSC2_000286" "g.2136753_2136754del" "" "" "" "TSC2(NM_000548.3):c.4870_4871delCT (p.L1624Dfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086752_2086753del" "" "pathogenic" "" "0000317816" "0" "90" "16" "2136761" "2136764" "del" "0" "01943" "TSC2_000871" "g.2136761_2136764del" "" "" "" "TSC2(NM_000548.3):c.4878_4881delCACC (p.T1627Rfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086760_2086763del" "" "pathogenic" "" "0000317817" "0" "90" "16" "2105409" "2105410" "del" "0" "01943" "TSC2_000099" "g.2105409_2105410del" "" "" "" "TSC2(NM_000548.3):c.488_489delTT (p.F163Cfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055408_2055409del" "" "pathogenic" "" "0000317818" "0" "90" "16" "2136788" "2136788" "subst" "0" "01943" "TSC2_002299" "g.2136788C>A" "" "" "" "TSC2(NM_000548.3):c.4905C>A (p.C1635*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086787C>A" "" "pathogenic" "" "0000317819" "0" "90" "16" "2136793" "2136802" "del" "0" "01943" "TSC2_002300" "g.2136793_2136802del" "" "" "" "TSC2(NM_000548.3):c.4910_4919delAGAAGCGCCA (p.K1637Tfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086792_2086801del" "" "pathogenic" "" "0000317820" "0" "90" "16" "2136795" "2136797" "del" "0" "01943" "TSC2_000872" "g.2136795_2136797del" "" "" "" "TSC2(NM_000548.3):c.4912_4914delAAG (p.K1638del), TSC2(NM_000548.5):c.4912_4914del (p.(Lys1638del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086794_2086796del" "" "pathogenic" "" "0000317821" "0" "90" "16" "2136796" "2136796" "dup" "0" "01943" "TSC2_002301" "g.2136796dup" "" "" "" "TSC2(NM_000548.3):c.4913dupA (p.R1639Afs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086795dup" "" "pathogenic" "" "0000317822" "0" "90" "16" "2136817" "2136818" "del" "0" "01943" "TSC2_000068" "g.2136817_2136818del" "" "" "" "TSC2(NM_000548.3):c.4934_4935delTT (p.F1645Cfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086816_2086817del" "" "pathogenic" "" "0000317823" "0" "90" "16" "2136818" "2136818" "dup" "0" "01943" "TSC2_002396" "g.2136818dup" "" "" "" "TSC2(NM_000548.3):c.4935dupT (p.V1646Cfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086817dup" "" "pathogenic" "" "0000317824" "0" "90" "16" "2136820" "2136820" "subst" "0" "01943" "TSC2_002010" "g.2136820T>G" "" "" "" "TSC2(NM_000548.3):c.4937T>G (p.V1646G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086819T>G" "" "pathogenic" "" "0000317825" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "01943" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086841C>T" "" "benign" "" "0000317826" "0" "90" "16" "2105417" "2105417" "subst" "0" "01943" "TSC2_000080" "g.2105417C>T" "" "" "" "TSC2(NM_000548.3):c.496C>T (p.Q166*), TSC2(NM_000548.5):c.496C>T (p.Q166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055416C>T" "" "pathogenic" "" "0000317828" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "01943" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086865C>T" "" "benign" "" "0000317829" "0" "30" "16" "2137853" "2137853" "subst" "1.63451E-5" "01943" "TSC2_004131" "g.2137853T>C" "" "" "" "TSC2(NM_000548.3):c.4990-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087852T>C" "" "likely benign" "" "0000317830" "0" "50" "16" "2137858" "2137858" "subst" "4.08423E-6" "01943" "TSC2_001071" "g.2137858G>A" "" "" "" "TSC2(NM_000548.3):c.4990-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087857G>A" "" "VUS" "" "0000317831" "0" "90" "16" "2137867" "2137867" "subst" "0" "01943" "TSC2_000032" "g.2137867C>T" "" "" "" "TSC2(NM_000548.3):c.4993C>T (p.Q1665*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087866C>T" "" "pathogenic" "" "0000317832" "0" "90" "16" "2137875" "2137875" "del" "0" "01943" "TSC2_003631" "g.2137875del" "" "" "" "TSC2(NM_000548.3):c.5001delC (p.F1668Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087874del" "" "pathogenic" "" "0000317833" "0" "50" "16" "2137878" "2137878" "subst" "0" "01943" "TSC2_002458" "g.2137878T>G" "" "" "" "TSC2(NM_000548.3):c.5004T>G (p.F1668L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087877T>G" "" "VUS" "" "0000317834" "0" "90" "16" "2137882" "2137882" "del" "0" "01943" "TSC2_003632" "g.2137882del" "" "" "" "TSC2(NM_000548.3):c.5008delC (p.H1670Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087881del" "" "pathogenic" "" "0000317835" "0" "10" "16" "2137891" "2137891" "subst" "0.000497204" "01943" "TSC2_000724" "g.2137891G>C" "" "" "" "TSC2(NM_000548.3):c.5017G>C (p.V1673L, p.(Val1673Leu)), TSC2(NM_000548.5):c.5017G>C (p.V1673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087890G>C" "" "benign" "" "0000317836" "0" "50" "16" "2137891" "2137891" "subst" "0" "01943" "TSC2_002076" "g.2137891G>T" "" "" "" "TSC2(NM_000548.3):c.5017G>T (p.V1673F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087890G>T" "" "VUS" "" "0000317837" "0" "90" "16" "2137892" "2137892" "subst" "0" "01943" "TSC2_002077" "g.2137892T>A" "" "" "" "TSC2(NM_000548.3):c.5018T>A (p.V1673D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087891T>A" "" "pathogenic" "" "0000317838" "0" "50" "16" "2137897" "2137897" "subst" "0" "01943" "TSC2_003007" "g.2137897C>T" "" "" "" "TSC2(NM_000548.3):c.5023C>T (p.P1675S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087896C>T" "" "VUS" "" "0000317839" "0" "90" "16" "2137898" "2137898" "subst" "0" "01943" "TSC2_000033" "g.2137898C>T" "" "" "" "TSC2(NM_000548.3):c.5024C>T (p.P1675L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087897C>T" "" "pathogenic" "" "0000317840" "0" "90" "16" "2137899" "2137899" "del" "0" "01943" "TSC2_000143" "g.2137899del" "" "" "" "TSC2(NM_000548.3):c.5025delG (p.L1676Wfs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087898del" "" "pathogenic" "" "0000317841" "0" "50" "16" "2137902" "2137902" "subst" "0.000407734" "01943" "TSC2_000631" "g.2137902G>A" "" "" "" "TSC2(NM_000548.3):c.5028G>A (p.L1676=), TSC2(NM_000548.5):c.5028G>A (p.L1676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087901G>A" "" "VUS" "" "0000317842" "0" "90" "16" "2137908" "2137908" "subst" "0" "01943" "TSC2_000633" "g.2137908C>G" "" "" "" "TSC2(NM_000548.3):c.5034C>G (p.Y1678*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087907C>G" "" "pathogenic" "" "0000317843" "0" "10" "16" "2137969" "2138002" "del" "0" "01943" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "benign" "" "0000317844" "0" "90" "16" "2137930" "2137930" "subst" "0" "01943" "TSC2_000636" "g.2137930C>T" "" "" "" "TSC2(NM_000548.3):c.5056C>T (p.Q1686*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087929C>T" "" "pathogenic" "" "0000317845" "0" "30" "16" "2137932" "2137932" "subst" "2.03741E-5" "01943" "TSC2_003633" "g.2137932G>A" "" "" "" "TSC2(NM_000548.3):c.5058G>A (p.Q1686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087931G>A" "" "likely benign" "" "0000317846" "0" "10" "16" "2137958" "2137958" "dup" "0" "01943" "TSC2_002302" "g.2137958dup" "" "" "" "TSC2(NM_000548.3):c.5068+16dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087957dup" "" "benign" "" "0000317847" "0" "90" "16" "2137943" "2137943" "subst" "0" "01943" "TSC2_000637" "g.2137943G>A" "" "" "" "TSC2(NM_000548.3):c.5068+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087942G>A" "" "pathogenic" "" "0000317848" "0" "10" "16" "2137982" "2137982" "subst" "0.00212587" "01943" "TSC2_002323" "g.2137982G>A" "" "" "" "TSC2(NM_000548.3):c.5068+40G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087981G>A" "" "benign" "" "0000317849" "0" "10" "16" "2137951" "2137951" "subst" "0.000138637" "01943" "TSC2_000638" "g.2137951G>A" "" "" "" "TSC2(NM_000548.3):c.5068+9G>A, TSC2(NM_000548.5):c.5068+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087950G>A" "" "benign" "" "0000317850" "0" "90" "16" "2138048" "2138048" "subst" "0" "01943" "TSC2_000639" "g.2138048G>A" "" "" "" "TSC2(NM_000548.3):c.5069-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088047G>A" "" "pathogenic" "" "0000317852" "0" "10" "16" "2138077" "2138077" "subst" "4.47675E-5" "01943" "TSC2_002400" "g.2138077G>C" "" "" "" "TSC2(NM_000548.3):c.5097G>C (p.V1699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088076G>C" "" "benign" "" "0000317854" "0" "10" "16" "2138098" "2138098" "subst" "0" "01943" "TSC2_002401" "g.2138098C>T" "" "" "" "TSC2(NM_000548.3):c.5118C>T (p.R1706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088097C>T" "" "benign" "" "0000317856" "0" "90" "16" "2138103" "2138103" "subst" "0" "01943" "TSC2_002305" "g.2138103T>C" "" "" "" "TSC2(NM_000548.3):c.5123T>C (p.L1708P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088102T>C" "" "pathogenic" "" "0000317857" "0" "90" "16" "2138106" "2138106" "subst" "0" "01943" "TSC2_000059" "g.2138106C>T" "" "" "" "TSC2(NM_000548.3):c.5126C>T (p.P1709L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088105C>T" "" "pathogenic" "" "0000317858" "0" "90" "16" "2138107" "2138107" "dup" "0" "01943" "TSC2_002306" "g.2138107dup" "" "" "" "TSC2(NM_000548.3):c.5127dupC (p.F1710Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088106dup" "" "pathogenic" "" "0000317859" "0" "90" "16" "2138120" "2138120" "subst" "0" "01943" "TSC2_000878" "g.2138120C>T" "" "" "" "TSC2(NM_000548.3):c.5140C>T (p.Q1714*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088119C>T" "" "pathogenic" "" "0000317860" "0" "90" "16" "2138130" "2138130" "subst" "0" "01943" "TSC2_000684" "g.2138130T>C" "" "" "" "TSC2(NM_000548.3):c.5150T>C (p.L1717P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088129T>C" "" "pathogenic" "" "0000317863" "0" "90" "16" "2138141" "2138141" "subst" "0" "01943" "TSC2_000648" "g.2138141G>A" "" "" "" "TSC2(NM_000548.3):c.5160+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088140G>A" "" "pathogenic" "" "0000317864" "0" "10" "16" "2138163" "2138163" "subst" "0.000142452" "01943" "TSC2_002308" "g.2138163G>A" "" "" "" "TSC2(NM_000548.3):c.5160+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088162G>A" "" "benign" "" "0000317865" "0" "90" "16" "2138142" "2138142" "subst" "0" "01943" "TSC2_002310" "g.2138142T>C" "" "" "" "TSC2(NM_000548.3):c.5160+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088141T>C" "" "pathogenic" "" "0000317866" "0" "50" "16" "2138227" "2138227" "subst" "0" "01943" "TSC2_000657" "g.2138227G>A" "" "" "" "TSC2(NM_000548.3):c.5161-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088226G>A" "" "VUS" "" "0000317867" "0" "90" "16" "2138225" "2138226" "del" "0" "01943" "TSC2_003635" "g.2138225_2138226del" "" "" "" "TSC2(NM_000548.3):c.5161-3_5161-2delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088224_2088225del" "" "pathogenic" "" "0000317868" "0" "10" "16" "2138219" "2138219" "subst" "0.00311057" "01943" "TSC2_000297" "g.2138219C>T" "" "" "" "PKD1(NM_001009944.3):c.*1509G>A, TSC2(NM_000548.3):c.5161-9C>T, TSC2(NM_000548.5):c.5161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088218C>T" "" "benign" "" "0000317869" "0" "90" "16" "2138231" "2138231" "subst" "0" "01943" "TSC2_002312" "g.2138231G>C" "" "" "" "TSC2(NM_000548.3):c.5164G>C (p.A1722P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088230G>C" "" "pathogenic" "" "0000317870" "0" "90" "16" "2138237" "2138237" "subst" "0" "01943" "TSC2_000147" "g.2138237C>T" "" "" "" "TSC2(NM_000548.3):c.5170C>T (p.Q1724*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088236C>T" "" "pathogenic" "" "0000317871" "0" "10" "16" "2138251" "2138251" "subst" "0" "01943" "TSC2_002402" "g.2138251C>T" "" "" "" "TSC2(NM_000548.3):c.5184C>T (p.S1728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088250C>T" "" "benign" "" "0000317873" "0" "10" "16" "2138269" "2138269" "subst" "0.178282" "01943" "TSC2_000001" "g.2138269T>C" "" "" "" "PKD1(NM_001009944.3):c.*1459A>G, TSC2(NM_000548.3):c.5202T>C (p.D1734=), TSC2(NM_000548.5):c.5202T>C (p.D1734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088268T>C" "" "benign" "" "0000317875" "0" "90" "16" "2138275" "2138275" "subst" "0" "01943" "TSC2_000328" "g.2138275C>A" "" "" "" "TSC2(NM_000548.3):c.5208C>A (p.Y1736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088274C>A" "" "pathogenic" "" "0000317876" "0" "90" "16" "2138294" "2138294" "subst" "0" "01943" "TSC2_000329" "g.2138294C>T" "" "" "" "TSC2(NM_000548.3):c.5227C>T (p.R1743W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088293C>T" "" "pathogenic" "" "0000317877" "0" "90" "16" "2138295" "2138295" "subst" "0" "01943" "TSC2_000096" "g.2138295G>A" "" "" "" "TSC2(NM_000548.3):c.5228G>A (p.R1743Q), TSC2(NM_001114382.3):c.5159G>A (p.R1720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088294G>A" "" "pathogenic" "" "0000317878" "0" "90" "16" "2138295" "2138295" "subst" "0" "01943" "TSC2_001180" "g.2138295G>T" "" "" "" "TSC2(NM_000548.3):c.5228G>T (p.R1743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088294G>T" "" "pathogenic" "" "0000317879" "0" "90" "16" "2138305" "2138322" "del" "0" "01943" "TSC2_000149" "g.2138305_2138322del" "" "" "" "TSC2(NM_000548.3):c.5238_5255delCATCAAGCGGCTCCGCCA (p.H1746_R1751del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088304_2088321del" "" "pathogenic" "" "0000317880" "0" "90" "16" "2138314" "2138314" "dup" "0" "01943" "TSC2_002079" "g.2138314dup" "" "" "" "TSC2(NM_000548.3):c.5247dupG (p.L1750Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088313dup" "" "pathogenic" "" "0000317881" "0" "90" "16" "2138316" "2138316" "subst" "0" "01943" "TSC2_002316" "g.2138316T>C" "" "" "" "TSC2(NM_000548.3):c.5249T>C (p.L1750P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088315T>C" "" "pathogenic" "" "0000317882" "0" "90" "16" "2138319" "2138345" "del" "0" "01943" "TSC2_000661" "g.2138319_2138345del" "" "" "" "TSC2(NM_000548.3):c.5252_5259+19delGCCAGCGGGTAGGGAATATGGGGCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088318_2088344del" "" "pathogenic" "" "0000317883" "0" "10" "16" "2138422" "2138422" "subst" "0.11417" "01943" "TSC2_000300" "g.2138422C>G" "" "" "" "TSC2(NM_000548.3):c.5260-25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088421C>G" "" "benign" "" "0000317884" "0" "10" "16" "2138398" "2138398" "subst" "0.105846" "01943" "TSC2_000150" "g.2138398C>T" "" "" "" "TSC2(NM_000548.3):c.5260-49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088397C>T" "" "benign" "" "0000317885" "0" "10" "16" "2138449" "2138449" "subst" "0" "01943" "TSC2_002405" "g.2138449C>T" "" "" "" "TSC2(NM_000548.3):c.5262C>T (p.I1754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088448C>T" "" "benign" "" "0000317887" "0" "10" "16" "2138508" "2138508" "subst" "0.00233816" "01943" "TSC2_000891" "g.2138508G>C" "" "" "" "TSC2(NM_000548.3):c.5321G>C (p.S1774T), TSC2(NM_000548.5):c.5321G>C (p.S1774T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088507G>C" "" "benign" "" "0000317888" "0" "30" "16" "2138518" "2138518" "subst" "8.15069E-6" "01943" "TSC2_002322" "g.2138518T>C" "" "" "" "TSC2(NM_000548.3):c.5331T>C (p.P1777=), TSC2(NM_000548.5):c.5331T>C (p.P1777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088517T>C" "" "likely benign" "" "0000317889" "0" "30" "16" "2138546" "2138546" "subst" "0.0022029" "01943" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088545G>A" "" "likely benign" "" "0000317890" "0" "30" "16" "2138554" "2138554" "subst" "0" "01943" "TSC2_003637" "g.2138554G>C" "" "" "" "TSC2(NM_000548.3):c.5367G>C (p.E1789D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088553G>C" "" "likely benign" "" "0000317891" "0" "10" "16" "2138570" "2138570" "subst" "0.00148943" "01943" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088569C>T" "" "benign" "" "0000317892" "0" "10" "16" "2138584" "2138584" "subst" "0.0733337" "01943" "TSC2_000002" "g.2138584G>C" "" "" "" "PKD1(NM_001009944.3):c.*1144C>G, TSC2(NM_000548.3):c.5397G>C (p.S1799=), TSC2(NM_000548.5):c.5397G>C (p.S1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088583G>C" "" "benign" "" "0000317893" "0" "90" "16" "2105460" "2105460" "subst" "0" "01943" "TSC2_003048" "g.2105460T>C" "" "" "" "TSC2(NM_000548.3):c.539T>C (p.L180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055459T>C" "" "pathogenic" "" "0000317895" "0" "10" "16" "2138607" "2138610" "del" "0" "01943" "TSC2_000302" "g.2138607_2138610del" "" "" "" "TSC2(NM_000548.3):c.5420_5423delTGTG (p.V1807Efs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088606_2088609del" "" "benign" "" "0000317896" "0" "90" "16" "2138609" "2138610" "del" "0" "01943" "TSC2_000303" "g.2138609_2138610del" "" "" "" "TSC2(NM_000548.3):c.5422_5423delTG (p.*1808Rfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088608_2088609del" "" "pathogenic" "" "0000317897" "0" "90" "16" "2105486" "2105496" "del" "0" "01943" "TSC2_002125" "g.2105486_2105496del" "" "" "" "TSC2(NM_000548.3):c.565_575delTGTTACCTCGA (p.C189Rfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055485_2055495del" "" "pathogenic" "" "0000317899" "0" "90" "16" "2105491" "2105491" "subst" "0" "01943" "TSC2_002126" "g.2105491C>A" "" "" "" "TSC2(NM_000548.3):c.570C>A (p.Y190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055490C>A" "" "pathogenic" "" "0000317900" "0" "50" "16" "2105507" "2105507" "subst" "3.24852E-5" "01943" "TSC2_000356" "g.2105507G>A" "" "" "" "TSC2(NM_000548.3):c.586G>A (p.A196T), TSC2(NM_000548.5):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055506G>A" "" "VUS" "" "0000317902" "0" "90" "16" "2105519" "2105519" "subst" "0" "01943" "TSC2_000095" "g.2105519C>T" "" "" "" "TSC2(NM_000548.3):c.598C>T (p.Q200*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055518C>T" "" "pathogenic" "" "0000317903" "0" "90" "16" "2105522" "2105522" "subst" "0" "01943" "TSC2_000897" "g.2105522T>G" "" "" "" "TSC2(NM_000548.3):c.599+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055521T>G" "" "pathogenic" "" "0000317904" "0" "90" "16" "2105525" "2105525" "subst" "0" "01943" "TSC2_000360" "g.2105525G>A" "" "" "" "TSC2(NM_000548.3):c.599+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2055524G>A" "" "pathogenic" "" "0000317905" "0" "90" "16" "2106194" "2106194" "subst" "0" "01943" "TSC2_002475" "g.2106194C>A" "" "" "" "TSC2(NM_000548.3):c.600-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056193C>A" "" "pathogenic" "" "0000317906" "0" "50" "16" "2106219" "2106219" "subst" "8.20123E-6" "01943" "TSC2_002129" "g.2106219C>T" "" "" "" "TSC2(NM_000548.3):c.622C>T (p.R208W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056218C>T" "" "VUS" "" "0000317907" "0" "30" "16" "2106227" "2106227" "subst" "0.000270694" "01943" "TSC2_003597" "g.2106227G>A" "" "" "" "TSC2(NM_000548.3):c.630G>A (p.A210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056226G>A" "" "likely benign" "" "0000317908" "0" "10" "16" "2106362" "2106362" "subst" "0" "01943" "TSC2_000106" "g.2106362C>G" "" "" "" "TSC2(NM_000548.3):c.648+117C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056361C>G" "" "benign" "" "0000317909" "0" "90" "16" "2106246" "2106246" "subst" "0" "01943" "TSC2_000365" "g.2106246G>A" "" "" "" "TSC2(NM_000548.3):c.648+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056245G>A" "" "pathogenic" "" "0000317910" "0" "10" "16" "2106619" "2106619" "subst" "5.82755E-5" "01943" "TSC2_002130" "g.2106619G>T" "" "" "" "TSC2(NM_000548.3):c.649-26G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056618G>T" "" "benign" "" "0000317911" "0" "90" "16" "2106652" "2106652" "subst" "0" "01943" "TSC2_002012" "g.2106652T>C" "" "" "" "TSC2(NM_000548.3):c.656T>C (p.L219P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056651T>C" "" "pathogenic" "" "0000317912" "0" "90" "16" "2106653" "2106653" "del" "0" "01943" "TSC2_002131" "g.2106653del" "" "" "" "TSC2(NM_000548.3):c.657delG (p.Q220Rfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056652del" "" "pathogenic" "" "0000317913" "0" "90" "16" "2106654" "2106654" "subst" "0" "01943" "TSC2_000366" "g.2106654C>T" "" "" "" "TSC2(NM_000548.3):c.658C>T (p.Q220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056653C>T" "" "pathogenic" "" "0000317914" "0" "90" "16" "2106661" "2106667" "del" "0" "01943" "TSC2_002132" "g.2106661_2106667del" "" "" "" "TSC2(NM_000548.3):c.665_671delTGGACGC (p.L222Pfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056660_2056666del" "" "pathogenic" "" "0000317915" "0" "90" "16" "2106680" "2106680" "del" "0" "01943" "TSC2_002133" "g.2106680del" "" "" "" "TSC2(NM_000548.3):c.684delC (p.Y228*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056679del" "" "pathogenic" "" "0000317916" "0" "50" "16" "2106696" "2106696" "subst" "0" "01943" "TSC2_001310" "g.2106696G>C" "" "" "" "TSC2(NM_000548.3):c.700G>C (p.E234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056695G>C" "" "VUS" "" "0000317917" "0" "90" "16" "2106696" "2106696" "subst" "0" "01943" "TSC2_002134" "g.2106696G>T" "" "" "" "TSC2(NM_000548.3):c.700G>T (p.E234*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056695G>T" "" "pathogenic" "" "0000317918" "0" "90" "16" "2106705" "2106706" "dup" "0" "01943" "TSC2_002332" "g.2106705_2106706dup" "" "" "" "TSC2(NM_000548.3):c.709_710dupCC (p.L238Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056704_2056705dup" "" "pathogenic" "" "0000317920" "0" "90" "16" "2106723" "2106723" "del" "0" "01943" "TSC2_002135" "g.2106723del" "" "" "" "TSC2(NM_000548.3):c.727delC (p.L243Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056722del" "" "pathogenic" "" "0000317921" "0" "90" "16" "2106725" "2106726" "del" "0" "01943" "TSC2_000689" "g.2106725_2106726del" "" "" "" "TSC2(NM_000548.3):c.729_730delCT (p.C244Sfs*93)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724_2056725del" "" "pathogenic" "" "0000317922" "0" "10" "16" "2106725" "2106725" "subst" "0.00337349" "01943" "TSC2_000122" "g.2106725C>G" "" "" "" "TSC2(NM_000548.3):c.729C>G (p.L243=), TSC2(NM_000548.5):c.729C>G (p.L243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056724C>G" "" "benign" "" "0000317923" "0" "90" "16" "2106726" "2106726" "subst" "0" "01943" "TSC2_001090" "g.2106726T>C" "" "" "" "TSC2(NM_000548.3):c.730T>C (p.C244R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056725T>C" "" "pathogenic" "" "0000317924" "0" "10" "16" "2106756" "2106756" "subst" "5.76602E-5" "01943" "TSC2_002053" "g.2106756G>A" "" "" "" "TSC2(NM_000548.3):c.760G>A (p.E254K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056755G>A" "" "benign" "" "0000317925" "0" "90" "16" "2106771" "2106771" "subst" "0" "01943" "TSC2_000805" "g.2106771G>A" "" "" "" "TSC2(NM_000548.3):c.774+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056770G>A" "" "pathogenic" "" "0000317926" "0" "90" "16" "2106771" "2106771" "subst" "0" "01943" "TSC2_002136" "g.2106771G>T" "" "" "" "TSC2(NM_000548.3):c.774+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056770G>T" "" "pathogenic" "" "0000317927" "0" "10" "16" "2106794" "2106794" "subst" "0" "01943" "TSC2_002334" "g.2106794G>T" "" "" "" "TSC2(NM_000548.3):c.774+24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2056793G>T" "" "benign" "" "0000317928" "0" "90" "16" "2107103" "2107103" "subst" "0" "01943" "TSC2_002137" "g.2107103C>G" "" "" "" "TSC2(NM_000548.3):c.775-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057102C>G" "" "pathogenic" "" "0000317929" "0" "90" "16" "2107155" "2107157" "del" "0" "01943" "TSC2_001998" "g.2107155_2107157del" "" "" "" "TSC2(NM_000548.3):c.824_826delACA (p.N275del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057154_2057156del" "" "pathogenic" "" "0000317930" "0" "90" "16" "2107157" "2107158" "del" "0" "01943" "TSC2_000131" "g.2107157_2107158del" "" "" "" "TSC2(NM_000548.3):c.826_827delAT (p.M276Vfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057156_2057157del" "" "pathogenic" "" "0000317931" "0" "90" "16" "2107158" "2107158" "del" "0" "01943" "TSC2_003584" "g.2107158del" "" "" "" "TSC2(NM_000548.3):c.827delT (p.M276Sfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057157del" "" "pathogenic" "" "0000317932" "0" "30" "16" "2107199" "2107199" "subst" "0" "01943" "TSC2_003598" "g.2107199C>T" "" "" "" "TSC2(NM_000548.3):c.848+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057198C>T" "" "likely benign" "" "0000317933" "0" "10" "16" "2108724" "2108724" "subst" "0.00024052" "01943" "TSC2_002335" "g.2108724C>T" "" "" "" "TSC2(NM_000548.3):c.849-24C>T, TSC2(NM_000548.5):c.849-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058723C>T" "" "benign" "" "0000317934" "0" "90" "16" "2108758" "2108758" "subst" "0" "01943" "TSC2_002139" "g.2108758G>T" "" "" "" "TSC2(NM_000548.3):c.859G>T (p.E287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058757G>T" "" "pathogenic" "" "0000317935" "0" "30" "16" "2108784" "2108784" "subst" "1.90163E-5" "01943" "TSC2_003599" "g.2108784C>T" "" "" "" "TSC2(NM_000548.3):c.885C>T (p.A295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058783C>T" "" "likely benign" "" "0000317936" "0" "30" "16" "2108787" "2108787" "subst" "0" "01943" "TSC2_001314" "g.2108787G>A" "" "" "" "TSC2(NM_000548.3):c.888G>A (p.V296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058786G>A" "" "likely benign" "" "0000317937" "0" "90" "16" "2108825" "2108825" "del" "0" "01943" "TSC2_002140" "g.2108825del" "" "" "" "TSC2(NM_000548.3):c.926delT (p.L309Pfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058824del" "" "pathogenic" "" "0000317939" "0" "30" "16" "2108847" "2108847" "subst" "0" "01943" "TSC2_003600" "g.2108847G>C" "" "" "" "TSC2(NM_000548.3):c.948G>C (p.P316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058846G>C" "" "likely benign" "" "0000317941" "0" "90" "16" "2108856" "2108857" "del" "0" "01943" "TSC2_000807" "g.2108856_2108857del" "" "" "" "TSC2(NM_000548.3):c.957_958delGT (p.L320Afs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058855_2058856del" "" "pathogenic" "" "0000317942" "0" "90" "16" "2108872" "2108872" "subst" "0" "01943" "TSC2_002143" "g.2108872C>T" "" "" "" "TSC2(NM_000548.3):c.973C>T (p.Q325*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058871C>T" "" "pathogenic" "" "0000317943" "0" "10" "16" "2108887" "2108887" "subst" "0.000462771" "01943" "TSC2_002144" "g.2108887C>T" "" "" "" "TSC2(NM_000548.3):c.975+13C>T, TSC2(NM_000548.5):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058886C>T" "" "benign" "" "0000317944" "0" "10" "16" "2108879" "2108879" "subst" "0" "01943" "TSC2_002337" "g.2108879G>C" "" "" "" "TSC2(NM_000548.3):c.975+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058878G>C" "" "benign" "" "0000317945" "0" "90" "16" "2110657" "2110657" "subst" "0" "01943" "TSC2_002150" "g.2110657G>A" "" "" "" "TSC2(NM_000548.3):c.976-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060656G>A" "" "pathogenic" "" "0000317946" "0" "90" "16" "2110670" "2110670" "subst" "0" "01943" "TSC2_000123" "g.2110670G>A" "" "" "" "TSC2(NM_000548.3):c.976-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060669G>A" "" "pathogenic" "" "0000324458" "0" "50" "16" "2094680" "2094680" "subst" "0" "01804" "NTHL1_000005" "g.2094680G>A" "" "" "" "NTHL1(NM_002528.5):c.500C>T (p.(Thr167Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2044679G>A" "" "VUS" "" "0000324459" "0" "30" "16" "2096331" "2096331" "subst" "2.03872E-5" "01804" "NTHL1_000007" "g.2096331C>T" "" "" "" "NTHL1(NM_002528.5):c.176G>A (p.(Arg59Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046330C>T" "" "likely benign" "" "0000324461" "0" "50" "16" "2098091" "2098111" "del" "0" "01804" "TSC2_003385" "g.2098091_2098111del" "" "" "" "TSC2(NM_000548.3):c.-30+3_-30+23del (p.(=)), TSC2(NM_001114382.2):c.-30+25_-30+45delAGTGGCGGTCCCCACGGGGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048090_2048110del" "" "VUS" "" "0000324462" "0" "50" "16" "2107179" "2107179" "subst" "2.67964E-5" "01804" "TSC2_001313" "g.2107179G>A" "Screened in 18 pops and only found in GnomAD_South Asians (MAF = 4/22794 alleles)" "" "" "TSC2(NM_000548.3):c.848G>A (p.(Arg283Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2057178G>A" "" "VUS" "" "0000324463" "0" "50" "16" "2121616" "2121616" "subst" "4.07491E-6" "01804" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071615A>T" "" "VUS" "" "0000324466" "0" "50" "16" "2122244" "2122244" "subst" "0" "01804" "TSC2_003796" "g.2122244G>C" "" "" "" "TSC2(NM_000548.3):c.2100G>C (p.(Glu700Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2072243G>C" "" "VUS" "" "0000324467" "0" "50" "16" "2127688" "2127688" "subst" "2.0333E-5" "01804" "TSC2_003882" "g.2127688G>A" "" "" "" "TSC2(NM_000548.3):c.2927G>A (p.(Arg976Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2077687G>A" "" "VUS" "" "0000324468" "0" "50" "16" "2129290" "2129290" "subst" "0" "01804" "TSC2_003328" "g.2129290G>A" "" "" "" "TSC2(NM_000548.3):c.3145G>A (p.(Glu1049Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079289G>A" "" "VUS" "" "0000324470" "0" "50" "16" "2133777" "2133777" "subst" "0" "01804" "TSC2_003982" "g.2133777C>T" "" "" "" "TSC2(NM_000548.3):c.3965C>T (p.(Ala1322Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083776C>T" "" "VUS" "" "0000324473" "0" "50" "16" "2134632" "2134632" "subst" "4.25822E-6" "01804" "TSC2_004038" "g.2134632G>A" "" "" "" "TSC2(NM_000548.3):c.4409G>A (p.(Arg1470His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084631G>A" "" "VUS" "" "0000324474" "0" "50" "16" "2136325" "2136325" "subst" "0" "01804" "TSC2_004097" "g.2136325C>G" "" "" "" "TSC2(NM_000548.3):c.4794C>G (p.(Asp1598Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2086324C>G" "" "VUS" "" "0000324475" "0" "30" "16" "2137969" "2138002" "del" "0" "01804" "TSC2_000144" "g.2137969_2138002del" "" "" "" "PKD1(NM_001009944.3):c.*1770_*1803del, TSC2(NM_000548.3):c.5051_5068+16del, TSC2(NM_000548.3):c.5068+27_5069-47del (p.(=)), TSC2(NM_000548.5):c.505..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2087968_2088001del" "" "likely benign" "" "0000324476" "0" "50" "16" "2138231" "2138231" "subst" "0" "01804" "TSC2_004177" "g.2138231G>A" "" "" "" "TSC2(NM_000548.3):c.5164G>A (p.(Ala1722Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088230G>A" "" "VUS" "" "0000324478" "0" "50" "16" "2140131" "2140131" "subst" "0.000192426" "01804" "PKD1_000808" "g.2140131T>C" "" "" "" "PKD1(NM_000296.3):c.12506A>G (p.(Lys4169Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090130T>C" "" "VUS" "" "0000324479" "0" "50" "16" "2140974" "2140974" "subst" "0" "01804" "PKD1_000811" "g.2140974G>A" "" "" "" "PKD1(NM_000296.3):c.11911C>T (p.(Arg3971Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090973G>A" "" "VUS" "" "0000324480" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "01804" "PKD1_000567" "g.2141018C>T" "" "" "" "PKD1(NM_001009944.2):c.11870G>A (p.G3957D, p.(Gly3957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091017C>T" "" "likely benign" "" "0000324481" "0" "30" "16" "2141171" "2141171" "subst" "0.00106505" "01804" "PKD1_000812" "g.2141171C>A" "" "" "" "PKD1(NM_000296.3):c.11714G>T (p.(Cys3905Phe)), PKD1(NM_001009944.2):c.11717G>T (p.C3906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2091170C>A" "" "likely benign" "" "0000324482" "0" "30" "16" "2158419" "2158419" "subst" "0.00234517" "01804" "PKD1_000079" "g.2158419G>A" "" "" "" "PKD1(NM_000296.3):c.6749C>T (p.(Thr2250Met)), PKD1(NM_001009944.2):c.6749C>T (p.T2250M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2108418G>A" "" "likely benign" "" "0000336823" "0" "90" "16" "2159745" "2159745" "del" "0" "02262" "PKD1_000871" "g.2159745del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2109744del" "" "pathogenic" "" "0000336824" "0" "50" "16" "2165415" "2165420" "del" "0" "02262" "PKD1_000876" "g.2165415_2165420del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2115414_2115419del" "" "VUS" "" "0000336825" "0" "90" "16" "2162400" "2162400" "del" "0" "02262" "PKD1_000874" "g.2162400del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.2112399del" "" "pathogenic" "" "0000337824" "11" "30" "16" "2158419" "2158419" "subst" "0.00234517" "02262" "PKD1_000079" "g.2158419G>A" "" "" "" "" "" "Germline" "no" "rs139971481" "0" "" "" "g.2108418G>A" "" "likely benign" "" "0000339074" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02327" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2046238G>A" "" "pathogenic" "" "0000339133" "0" "50" "16" "2121616" "2121616" "subst" "4.07491E-6" "02327" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2071615A>T" "" "VUS" "" "0000341923" "0" "90" "16" "2160862" "2160862" "subst" "0" "02327" "PKD1_000301" "g.2160862G>A" "" "" "" "PKD1(NM_001009944.2):c.4306C>T (p.R1436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2110861G>A" "" "pathogenic" "" "0000343537" "0" "50" "16" "2103409" "2103409" "subst" "0" "02327" "TSC2_001996" "g.2103409C>T" "" "" "" "TSC2(NM_000548.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2053408C>T" "" "VUS" "" "0000343906" "0" "30" "16" "2133767" "2133767" "subst" "2.91528E-5" "02327" "TSC2_004218" "g.2133767G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2083766G>A" "" "likely benign" "" "0000346059" "0" "50" "16" "2140718" "2140718" "subst" "0.00012346" "02327" "PKD1_000041" "g.2140718C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2090717C>T" "" "VUS" "" "0000348198" "0" "50" "16" "2134571" "2134571" "subst" "8.42659E-6" "02327" "TSC2_004219" "g.2134571C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2084570C>G" "" "VUS" "" "0000348211" "0" "30" "16" "2135019" "2135019" "subst" "0" "02327" "TSC2_004220" "g.2135019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2085018C>T" "" "likely benign" "" "0000348952" "0" "30" "16" "2110717" "2110717" "subst" "0" "02327" "TSC2_004216" "g.2110717C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2060716C>G" "" "likely benign" "" "0000349269" "0" "50" "16" "2161350" "2161350" "subst" "0" "02327" "PKD1_000880" "g.2161350G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2111349G>A" "" "VUS" "" "0000349668" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "02327" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2079043C>T" "" "likely benign" "" "0000351017" "0" "90" "16" "2138143" "2138143" "subst" "0" "02327" "TSC2_000791" "g.2138143G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088142G>C" "" "pathogenic" "" "0000351018" "0" "70" "16" "2139919" "2139919" "subst" "0" "02327" "PKD1_000463" "g.2139919G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2089918G>A" "" "likely pathogenic" "" "0000351476" "10" "90" "16" "2159152" "2159152" "del" "0" "02262" "PKD1_000870" "g.2159152del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2109151del" "" "pathogenic" "" "0000351477" "21" "90" "16" "2160371" "2160371" "subst" "0" "02262" "PKD1_000873" "g.2160371G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110370G>T" "" "pathogenic" "" "0000351478" "0" "90" "16" "2150414" "2150415" "del" "0" "02262" "PKD1_000864" "g.2150414_2150415del" "" "" "" "9553_9554delTG" "" "Germline" "?" "" "0" "" "" "g.2100413_2100414del" "" "pathogenic" "" "0000351479" "0" "90" "16" "2160932" "2160939" "del" "0" "02262" "PKD1_000878" "g.2160932_2160939del" "" "" "" "4232_4239delGCTACACC" "" "Germline" "" "" "0" "" "" "g.2110931_2110938del" "" "pathogenic" "" "0000351480" "0" "90" "16" "2156579" "2156590" "dup" "0" "02262" "PKD1_000868" "g.2156579_2156590dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2106578_2106589dup" "" "pathogenic" "" "0000351481" "0" "90" "16" "2141069" "2141069" "dup" "0" "02262" "PKD1_000862" "g.2141069dup" "" "" "" "c.11819dupT" "" "Germline" "" "" "0" "" "" "g.2091068dup" "" "pathogenic" "" "0000351482" "0" "50" "16" "2153788" "2153788" "subst" "0" "02262" "PKD1_000866" "g.2153788G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2103787G>C" "" "VUS" "" "0000351483" "0" "50" "16" "2156849" "2156849" "subst" "0" "02262" "PKD1_000869" "g.2156849A>G" "" "" "" "" "variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2106848A>G" "" "VUS" "" "0000351484" "0" "50" "16" "2164586" "2164586" "subst" "0" "02262" "PKD1_000875" "g.2164586C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2114585C>T" "" "VUS" "" "0000351485" "21" "50" "16" "2141879" "2141879" "subst" "0" "02262" "PKD1_000863" "g.2141879A>G" "" "" "" "" "Variant not found in online datasets" "Germline" "yes" "" "0" "" "" "g.2091878A>G" "" "VUS" "" "0000351486" "0" "50" "16" "2160066" "2160066" "subst" "0" "02262" "PKD1_000872" "g.2160066T>A" "" "" "" "" "Variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2110065T>A" "" "VUS" "" "0000351487" "10" "50" "16" "2153362" "2153362" "subst" "0" "02262" "PKD1_000865" "g.2153362A>G" "" "" "" "" "variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2103361A>G" "" "VUS" "" "0000351489" "10" "50" "16" "2166065" "2166065" "subst" "6.90751E-6" "02262" "PKD1_000877" "g.2166065C>T" "" "" "" "" "variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2116064C>T" "" "VUS" "" "0000351490" "0" "50" "16" "2156260" "2156260" "subst" "0" "02262" "PKD1_000867" "g.2156260A>G" "" "" "" "" "variant not found in online datasets" "Germline" "" "" "0" "" "" "g.2106259A>G" "" "VUS" "" "0000351658" "11" "50" "16" "2159169" "2159169" "subst" "0" "02262" "PKD1_000886" "g.2159169G>C" "" "" "" "" "variant not found in online datasets" "Germline" "" "" "0" "" "" "g.2109168G>C" "" "VUS" "" "0000351659" "0" "50" "16" "2155360" "2155360" "subst" "0" "02262" "PKD1_000882" "g.2155360T>C" "" "" "" "" "variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2105359T>C" "" "VUS" "" "0000351660" "0" "50" "16" "2150296" "2150296" "subst" "0" "02262" "PKD1_000883" "g.2150296A>C" "" "" "" "" "variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2100295A>C" "" "VUS" "" "0000351661" "0" "50" "16" "2153879" "2153879" "subst" "0" "02262" "PKD1_000884" "g.2153879C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2103878C>G" "" "VUS" "" "0000351681" "20" "50" "16" "2141869" "2141869" "subst" "0" "02262" "PKD1_000885" "g.2141869C>T" "" "" "" "" "variant not found in online datasets" "Germline" "?" "" "0" "" "" "g.2091868C>T" "" "VUS" "" "0000351722" "0" "70" "16" "2156461" "2156461" "subst" "0" "01741" "PKD1_000881" "g.2156461C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106460C>G" "" "likely pathogenic" "" "0000368272" "0" "70" "16" "2166010" "2166010" "subst" "0" "02262" "PKD1_000887" "g.2166010C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2116009C>G" "" "likely pathogenic" "" "0000368273" "0" "70" "16" "2160280" "2160280" "subst" "0" "02262" "PKD1_000435" "g.2160280G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110279G>A" "" "likely pathogenic" "" "0000368275" "0" "70" "16" "2159004" "2159004" "subst" "0" "02262" "PKD1_000888" "g.2159004A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109003A>G" "" "likely pathogenic" "" "0000368383" "0" "50" "16" "2166570" "2166570" "subst" "0" "02262" "PKD1_000890" "g.2166570G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2116569G>A" "" "VUS" "" "0000368392" "0" "70" "16" "2157879" "2157879" "subst" "0" "02262" "PKD1_000891" "g.2157879C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2107878C>A" "" "likely pathogenic" "" "0000368393" "0" "70" "16" "2156132" "2156132" "subst" "0" "02262" "PKD1_000889" "g.2156132C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2106131C>T" "" "likely pathogenic" "" "0000368514" "0" "70" "16" "2152580" "2152580" "subst" "0" "02262" "PKD1_000892" "g.2152580C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2102579C>T" "" "likely pathogenic" "" "0000368515" "0" "70" "16" "2149928" "2149928" "subst" "0" "02262" "PKD1_000893" "g.2149928A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2099927A>G" "" "likely pathogenic" "" "0000368517" "20" "70" "16" "2141016" "2141016" "subst" "0" "02262" "PKD1_000894" "g.2141016C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091015C>G" "" "likely pathogenic" "" "0000368993" "0" "70" "16" "2150074" "2150074" "subst" "0" "02262" "PKD1_000896" "g.2150074T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100073T>C" "" "likely pathogenic" "" "0000368994" "0" "30" "16" "2152903" "2152903" "subst" "0" "02262" "PKD1_000895" "g.2152903C>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.2102902C>A" "" "likely benign" "" "0000369002" "10" "70" "16" "2168190" "2168190" "dup" "0" "02262" "PKD1_000898" "g.2168190dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2118189dup" "" "likely pathogenic" "" "0000369003" "0" "70" "16" "2164921" "2164934" "del" "0" "02262" "PKD1_000900" "g.2164921_2164934del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2114920_2114933del" "" "likely pathogenic" "" "0000369004" "20" "70" "16" "2162963" "2162966" "del" "0" "02262" "PKD1_000899" "g.2162963_2162966del" "" "" "" "2986-2_2987delAGCT" "" "Germline" "yes" "" "0" "" "" "g.2112962_2112965del" "" "likely pathogenic" "" "0000369005" "0" "70" "16" "2160741" "2160741" "del" "0" "02262" "PKD1_000897" "g.2160741del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110740del" "" "likely pathogenic" "" "0000369008" "10" "70" "16" "2162788" "2162788" "subst" "0" "02262" "PKD1_000906" "g.2162788C>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.2112787C>T" "" "likely pathogenic" "" "0000369043" "0" "70" "16" "2160674" "2160674" "subst" "0" "02262" "PKD1_000904" "g.2160674G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110673G>C" "" "likely pathogenic" "" "0000369044" "20" "70" "16" "2155339" "2155339" "subst" "0" "02262" "PKD1_000905" "g.2155339G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2105338G>T" "" "likely pathogenic" "" "0000369046" "10" "70" "16" "2142483" "2142498" "del" "0" "02262" "PKD1_000901" "g.2142483_2142498del" "" "" "" "11257_11269+3del16" "" "Germline" "yes" "" "0" "" "" "g.2092482_2092497del" "" "likely pathogenic" "" "0000369047" "10" "70" "16" "2166911" "2166911" "subst" "0" "02262" "PKD1_000902" "g.2166911C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2116910C>G" "" "likely pathogenic" "" "0000369048" "0" "70" "16" "2161339" "2161339" "subst" "0" "02262" "PKD1_000903" "g.2161339C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2111338C>G" "" "likely pathogenic" "" "0000405974" "21" "50" "16" "2158672" "2158672" "subst" "0.00320602" "02552" "PKD1_000297" "g.2158672G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs146096401" "0" "" "" "g.2108671G>A" "" "VUS" "" "0000454006" "0" "70" "16" "2149732" "2149733" "del" "0" "02262" "PKD1_000907" "g.2149732_2149733del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2099731_2099732del" "" "likely pathogenic" "" "0000454324" "0" "70" "16" "2161000" "2161000" "subst" "0" "02262" "PKD1_000912" "g.2161000G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110999G>A" "" "likely pathogenic" "" "0000454329" "0" "70" "16" "2150258" "2150258" "del" "0" "02262" "PKD1_000909" "g.2150258del" "" "" "" "9622delG" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2100257del" "" "likely pathogenic" "" "0000454333" "0" "70" "16" "2158404" "2158404" "subst" "0" "02262" "PKD1_000910" "g.2158404C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2108403C>G" "" "likely pathogenic" "" "0000454334" "0" "70" "16" "2160595" "2160595" "subst" "0" "02262" "PKD1_000911" "g.2160595C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2110594C>A" "" "likely pathogenic" "" "0000454336" "0" "70" "16" "2147730" "2147730" "subst" "0" "02262" "PKD1_000908" "g.2147730T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2097729T>C" "" "likely pathogenic" "" "0000454341" "0" "70" "16" "2167499" "2167499" "subst" "0" "02262" "PKD1_000916" "g.2167499C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2117498C>G" "" "likely pathogenic" "" "0000454342" "0" "50" "16" "2161614" "2161614" "subst" "0" "02262" "PKD1_000914" "g.2161614C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2111613C>T" "" "VUS" "" "0000454343" "20" "70" "16" "2166870" "2166871" "del" "0" "02262" "PKD1_000917" "g.2166870_2166871del" "" "" "" "1569_1570delAG" "" "Germline" "?" "" "0" "" "" "g.2116869_2116870del" "" "likely pathogenic" "" "0000454344" "0" "70" "16" "2156398" "2156398" "subst" "0" "02262" "PKD1_000913" "g.2156398C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.2106397C>T" "" "likely pathogenic" "" "0000557081" "0" "30" "16" "2093649" "2093649" "subst" "0" "02330" "NTHL1_000017" "g.2093649C>G" "" "" "" "NTHL1(NM_002528.7):c.604G>C (p.E202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2043648C>G" "" "likely benign" "" "0000557085" "0" "30" "16" "2094653" "2094653" "subst" "0.00195319" "02330" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "likely benign" "" "0000557086" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "01804" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "VUS" "" "0000557087" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "02327" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "VUS" "" "0000557088" "0" "50" "16" "2094653" "2094653" "subst" "0.00195319" "02325" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044652A>G" "" "VUS" "" "0000557091" "0" "50" "16" "2096202" "2096202" "subst" "0" "01943" "NTHL1_000023" "g.2096202A>G" "" "" "" "NTHL1(NM_002528.7):c.281T>C (p.M94T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046201A>G" "" "VUS" "" "0000557092" "0" "50" "16" "2096209" "2096209" "subst" "0.000934762" "02330" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046208G>A" "" "VUS" "" "0000557093" "0" "30" "16" "2096209" "2096209" "subst" "0.000934762" "02327" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046208G>A" "" "likely benign" "" "0000557094" "0" "30" "16" "2096342" "2096342" "subst" "2.85612E-5" "01943" "NTHL1_000024" "g.2096342C>T" "" "" "" "NTHL1(NM_002528.7):c.141G>A (p.V47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046341C>T" "" "likely benign" "" "0000557095" "0" "30" "16" "2096345" "2096345" "subst" "0.000106147" "02330" "NTHL1_000025" "g.2096345G>A" "" "" "" "NTHL1(NM_002528.7):c.138C>T (p.P46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046344G>A" "" "likely benign" "" "0000557097" "0" "30" "16" "2097796" "2097796" "subst" "0.000136478" "02330" "NTHL1_000256" "g.2097796G>C" "" "" "" "NTHL1(NM_002528.7):c.29C>G (p.T10S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2047795G>C" "" "likely benign" "" "0000557101" "0" "50" "16" "2100414" "2100414" "subst" "1.2189E-5" "01943" "TSC2_003640" "g.2100414A>C" "" "" "" "TSC2(NM_000548.3):c.152A>C (p.E51A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2050413A>C" "" "VUS" "" "0000557102" "0" "30" "16" "2100414" "2100414" "subst" "1.2189E-5" "02326" "TSC2_003640" "g.2100414A>C" "" "" "" "TSC2(NM_000548.3):c.152A>C (p.E51A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2050413A>C" "" "likely benign" "" "0000557104" "0" "30" "16" "2103345" "2103345" "subst" "0.00332754" "01943" "TSC2_000035" "g.2103345C>T" "" "" "" "TSC2(NM_000548.5):c.228C>T (p.H76=), TSC2(NM_001114382.2):c.228C>T (p.H76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053344C>T" "" "likely benign" "" "0000557105" "0" "90" "16" "2103356" "2103366" "dup" "0" "01943" "TSC2_002114" "g.2103356_2103366dup" "" "" "" "TSC2(NM_000548.3):c.239_249dupCACTCTGGAAG (p.A84Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053355_2053365dup" "" "pathogenic" "" "0000557106" "0" "90" "16" "2103385" "2103385" "subst" "0" "01943" "TSC2_000036" "g.2103385C>T" "" "" "" "TSC2(NM_000548.3):c.268C>T (p.Q90*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053384C>T" "" "pathogenic" "" "0000557107" "0" "30" "16" "2103414" "2103414" "subst" "3.56779E-5" "01943" "TSC2_001451" "g.2103414C>T" "" "" "" "TSC2(NM_000548.3):c.297C>T (p.H99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053413C>T" "" "likely benign" "" "0000557108" "0" "90" "16" "2103454" "2103455" "dup" "0" "01943" "TSC2_002330" "g.2103454_2103455dup" "" "" "" "TSC2(NM_000548.3):c.336+2_336+3insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053453_2053454dup" "" "pathogenic" "" "0000557109" "0" "90" "16" "2104312" "2104312" "dup" "0" "01943" "TSC2_000965" "g.2104312dup" "" "" "" "TSC2(NM_000548.3):c.352dupG (p.V118Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2054311dup" "" "pathogenic" "" "0000557110" "0" "30" "16" "2104334" "2104334" "subst" "8.12156E-6" "02330" "TSC2_001453" "g.2104334A>G" "" "" "" "TSC2(NM_000548.5):c.374A>G (p.K125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2054333A>G" "" "likely benign" "" "0000557111" "0" "30" "16" "2104416" "2104416" "subst" "0" "02330" "TSC2_001454" "g.2104416C>T" "" "" "" "TSC2(NM_000548.5):c.456C>T (p.H152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2054415C>T" "" "likely benign" "" "0000557113" "0" "90" "16" "2105430" "2105431" "ins" "0" "01943" "TSC2_002124" "g.2105430_2105431insAT" "" "" "" "TSC2(NM_000548.3):c.509_510insAT (p.G171Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055429_2055430insAT" "" "pathogenic" "" "0000557114" "0" "90" "16" "2105490" "2105490" "dup" "0" "01943" "TSC2_000093" "g.2105490dup" "" "" "" "TSC2(NM_000548.3):c.569dupA (p.Y190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055489dup" "" "pathogenic" "" "0000557116" "0" "30" "16" "2105506" "2105506" "subst" "1.62425E-5" "02330" "TSC2_001456" "g.2105506C>T" "" "" "" "TSC2(NM_000548.5):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055505C>T" "" "likely benign" "" "0000557117" "0" "90" "16" "2105516" "2105519" "dup" "0" "01943" "TSC2_003596" "g.2105516_2105519dup" "" "" "" "TSC2(NM_000548.3):c.595_598dupGTTC (p.Q200Rfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055515_2055518dup" "" "pathogenic" "" "0000557118" "0" "50" "16" "2105524" "2105524" "subst" "0" "01943" "TSC2_002128" "g.2105524A>G" "" "" "" "TSC2(NM_000548.3):c.599+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2055523A>G" "" "VUS" "" "0000557120" "0" "30" "16" "2106700" "2106700" "subst" "4.0802E-5" "02330" "TSC2_001216" "g.2106700G>A" "" "" "" "TSC2(NM_000548.5):c.704G>A (p.S235N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2056699G>A" "" "likely benign" "" "0000557121" "0" "90" "16" "2106720" "2106720" "dup" "0" "01943" "TSC2_002333" "g.2106720dup" "" "" "" "TSC2(NM_000548.3):c.724dupA (p.T242Nfs*96)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2056719dup" "" "pathogenic" "" "0000557122" "0" "90" "16" "2107180" "2107180" "subst" "0" "01943" "TSC2_000806" "g.2107180G>A" "" "" "" "TSC2(NM_000548.3):c.848+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2057179G>A" "" "pathogenic" "" "0000557123" "0" "10" "16" "2107186" "2107186" "subst" "0.000743898" "01943" "TSC2_000898" "g.2107186G>A" "" "" "" "TSC2(NM_000548.5):c.848+7G>A, TSC2(NM_001114382.2):c.848+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2057185G>A" "" "benign" "" "0000557125" "0" "90" "16" "2108745" "2108745" "subst" "0" "02327" "TSC2_000330" "g.2108745T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058744T>G" "" "pathogenic" "" "0000557126" "0" "90" "16" "2108747" "2108747" "subst" "0" "01943" "TSC2_002084" "g.2108747G>C" "" "" "" "TSC2(NM_000548.3):c.849-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058746G>C" "" "pathogenic" "" "0000557127" "0" "10" "16" "2108755" "2108755" "subst" "0.00180267" "02330" "TSC2_000160" "g.2108755A>G" "" "" "" "TSC2(NM_000548.3):c.856A>G (p.M286V), TSC2(NM_000548.5):c.856A>G (p.M286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058754A>G" "" "benign" "" "0000557128" "0" "90" "16" "2108827" "2108827" "dup" "0" "01943" "TSC2_002141" "g.2108827dup" "" "" "" "TSC2(NM_000548.3):c.928dupT (p.Y310Lfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058826dup" "" "pathogenic" "" "0000557129" "0" "90" "16" "2108848" "2108849" "ins" "0" "01943" "TSC2_002142" "g.2108848_2108849insTA" "" "" "" "TSC2(NM_000548.3):c.949_950insTA (p.T317Ifs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058847_2058848insTA" "" "pathogenic" "" "0000557130" "0" "30" "16" "2108887" "2108887" "subst" "0.000462771" "02330" "TSC2_002144" "g.2108887C>T" "" "" "" "TSC2(NM_000548.3):c.975+13C>T, TSC2(NM_000548.5):c.975+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2058886C>T" "" "likely benign" "" "0000557132" "0" "90" "16" "2110656" "2110656" "subst" "0" "01943" "TSC2_000184" "g.2110656G>A" "" "" "" "TSC2(NM_000548.3):c.976-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060655G>A" "" "pathogenic" "" "0000557133" "0" "30" "16" "2110662" "2110662" "subst" "4.06388E-6" "02330" "TSC2_001457" "g.2110662G>A" "" "" "" "TSC2(NM_000548.5):c.976-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060661G>A" "" "likely benign" "" "0000557134" "0" "90" "16" "2110673" "2110673" "dup" "0" "01943" "TSC2_002151" "g.2110673dup" "" "" "" "TSC2(NM_000548.3):c.978dupC (p.M327Hfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060672dup" "" "pathogenic" "" "0000557135" "0" "10" "16" "2110735" "2110735" "subst" "2.84301E-5" "01943" "TSC2_002339" "g.2110735A>G" "" "" "" "TSC2(NM_000548.3):c.1040A>G (p.K347R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060734A>G" "" "benign" "" "0000557136" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "01804" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060764C>T" "" "likely benign" "" "0000557137" "0" "30" "16" "2110795" "2110795" "subst" "0.0138783" "01804" "TSC2_000163" "g.2110795G>A" "" "" "" "TSC2(NM_000548.3):c.1100G>A (p.R367Q, p.(Arg367Gln)), TSC2(NM_000548.5):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060794G>A" "" "likely benign" "" "0000557143" "0" "10" "16" "2112116" "2112116" "dup" "0" "01943" "TSC2_002154" "g.2112116dup" "" "" "" "TSC2(NM_000548.3):c.1257+107dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062115dup" "" "benign" "" "0000557144" "0" "10" "16" "2112466" "2112466" "dup" "0" "01943" "TSC2_002156" "g.2112466dup" "" "" "" "TSC2(NM_000548.3):c.1258-32dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062465dup" "" "benign" "" "0000557145" "0" "10" "16" "2112617" "2112617" "subst" "0.000758452" "02330" "TSC2_000274" "g.2112617T>G" "" "" "" "TSC2(NM_000548.5):c.1361+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062616T>G" "" "benign" "" "0000557146" "0" "30" "16" "2112976" "2112976" "subst" "2.02716E-5" "02330" "TSC2_003294" "g.2112976C>T" "" "" "" "TSC2(NM_000548.5):c.1365C>T (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062975C>T" "" "likely benign" "" "0000557147" "0" "50" "16" "2112977" "2112977" "subst" "2.7019E-5" "02329" "TSC2_002017" "g.2112977G>A" "" "" "" "TSC2(NM_000548.3):c.1366G>A (p.E456K), TSC2(NM_000548.5):c.1366G>A (p.E456K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062976G>A" "" "VUS" "" "0000557148" "0" "30" "16" "2112988" "2112988" "subst" "0.000660351" "01943" "TSC2_000168" "g.2112988C>T" "" "" "" "TSC2(NM_001114382.2):c.1377C>T (p.G459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062987C>T" "" "likely benign" "" "0000557149" "0" "10" "16" "2112989" "2112989" "subst" "0.00121899" "02330" "TSC2_001096" "g.2112989G>A" "" "" "" "TSC2(NM_000548.3):c.1378G>A (p.A460T), TSC2(NM_000548.5):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062988G>A" "" "benign" "" "0000557150" "0" "50" "16" "2112996" "2112996" "subst" "0" "02325" "TSC2_001459" "g.2112996G>T" "" "" "" "TSC2(NM_001114382.3):c.1385G>T (p.R462L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062995G>T" "" "VUS" "" "0000557151" "0" "90" "16" "2112996" "2112997" "dup" "0" "01943" "TSC2_002160" "g.2112996_2112997dup" "" "" "" "TSC2(NM_000548.3):c.1385_1386dupGC (p.I463Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062995_2062996dup" "" "pathogenic" "" "0000557153" "0" "30" "16" "2114268" "2114268" "subst" "0" "02330" "TSC2_001460" "g.2114268T>C" "" "" "" "TSC2(NM_000548.5):c.1444-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064267T>C" "" "likely benign" "" "0000557154" "0" "90" "16" "2114334" "2114334" "del" "0" "01943" "TSC2_002345" "g.2114334del" "" "" "" "TSC2(NM_000548.3):c.1505delA (p.H502Pfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064333del" "" "pathogenic" "" "0000557155" "0" "90" "16" "2114337" "2114337" "dup" "0" "01943" "TSC2_002166" "g.2114337dup" "" "" "" "TSC2(NM_000548.3):c.1508dupA (p.V504Gfs*85)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064336dup" "" "pathogenic" "" "0000557156" "0" "90" "16" "2114393" "2114393" "dup" "0" "01943" "TSC2_002168" "g.2114393dup" "" "" "" "TSC2(NM_000548.3):c.1564dupC (p.H522Pfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064392dup" "" "pathogenic" "" "0000557157" "0" "90" "16" "2114394" "2114395" "ins" "0" "01943" "TSC2_001461" "g.2114394_2114395insAC" "" "" "" "TSC2(NM_000548.3):c.1565_1566insAC (p.H522Qfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064393_2064394insAC" "" "pathogenic" "" "0000557158" "0" "30" "16" "2114406" "2114406" "subst" "5.28189E-5" "01943" "TSC2_002679" "g.2114406G>C" "" "" "" "TSC2(NM_000548.5):c.1577G>C (p.S526T), TSC2(NM_001114382.2):c.1577G>C (p.S526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064405G>C" "" "likely benign" "" "0000557159" "0" "90" "16" "2114429" "2114429" "subst" "0" "01943" "TSC2_002170" "g.2114429G>T" "" "" "" "TSC2(NM_000548.3):c.1599+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064428G>T" "" "pathogenic" "" "0000557160" "0" "10" "16" "2115490" "2115490" "dup" "0" "01943" "TSC2_002172" "g.2115490dup" "" "" "" "TSC2(NM_000548.3):c.1600-30dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065489dup" "" "benign" "" "0000557161" "0" "90" "16" "2115518" "2115518" "subst" "0" "02325" "TSC2_001462" "g.2115518A>C" "" "" "" "TSC2(NM_001114382.3):c.1600-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065517A>C" "" "pathogenic" "" "0000557162" "0" "90" "16" "2115530" "2115542" "del" "0" "01943" "TSC2_002173" "g.2115530_2115542del" "" "" "" "TSC2(NM_000548.3):c.1610_1622delGCTCCCTCTCCCC (p.R537Hfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065529_2065541del" "" "pathogenic" "" "0000557163" "0" "90" "16" "2115618" "2115637" "del" "0" "01943" "TSC2_002175" "g.2115618_2115637del" "" "" "" "TSC2(NM_000548.3):c.1698_1716+1delGCTTCTGGTCATCCTTCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065617_2065636del" "" "pathogenic" "" "0000557164" "0" "90" "16" "2115632" "2115632" "subst" "0" "01943" "TSC2_002176" "g.2115632T>C" "" "" "" "TSC2(NM_000548.3):c.1712T>C (p.L571P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2065631T>C" "" "pathogenic" "" "0000557166" "0" "10" "16" "2120487" "2120487" "subst" "0.00196373" "02330" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070486G>A" "" "benign" "" "0000557167" "0" "10" "16" "2120487" "2120487" "subst" "0.00196373" "01943" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070486G>A" "" "benign" "" "0000557168" "0" "30" "16" "2120487" "2120487" "subst" "0.00196373" "02329" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070486G>A" "" "likely benign" "" "0000557169" "0" "90" "16" "2120498" "2120499" "dup" "0" "01943" "TSC2_002179" "g.2120498_2120499dup" "" "" "" "TSC2(NM_000548.3):c.1758_1759dupGT (p.Y587Cfs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070497_2070498dup" "" "pathogenic" "" "0000557170" "0" "90" "16" "2120529" "2120531" "dup" "0" "01943" "TSC2_002180" "g.2120529_2120531dup" "" "" "" "TSC2(NM_000548.3):c.1789_1791dupCAC (p.H597dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070528_2070530dup" "" "pathogenic" "" "0000557171" "0" "90" "16" "2120544" "2120544" "dup" "0" "01943" "TSC2_002182" "g.2120544dup" "" "" "" "TSC2(NM_000548.3):c.1804dupT (p.Y602Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070543dup" "" "pathogenic" "" "0000557172" "0" "30" "16" "2120559" "2120559" "subst" "0.000651238" "02330" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070558G>A" "" "likely benign" "" "0000557173" "0" "10" "16" "2120561" "2120561" "subst" "0.000301202" "01943" "TSC2_002353" "g.2120561G>A" "" "" "" "TSC2(NM_000548.3):c.1821G>A (p.A607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070560G>A" "" "benign" "" "0000557175" "0" "10" "16" "2120637" "2120637" "dup" "0" "01943" "TSC2_001463" "g.2120637dup" "" "" "" "TSC2(NM_000548.3):c.1839+58dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070636dup" "" "benign" "" "0000557177" "0" "50" "16" "2121554" "2121554" "subst" "4.06961E-6" "01943" "TSC2_001464" "g.2121554G>A" "" "" "" "TSC2(NM_000548.3):c.1883G>A (p.R628H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071553G>A" "" "VUS" "" "0000557178" "0" "90" "16" "2121605" "2121605" "dup" "0" "01943" "TSC2_002189" "g.2121605dup" "" "" "" "TSC2(NM_000548.3):c.1934dupT (p.C646Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071604dup" "" "pathogenic" "" "0000557179" "0" "30" "16" "2121616" "2121616" "subst" "4.07491E-6" "02330" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071615A>T" "" "likely benign" "" "0000557180" "0" "50" "16" "2121616" "2121616" "subst" "4.07491E-6" "02325" "TSC2_003514" "g.2121616A>T" "" "" "" "TSC2(NM_000548.3):c.1945A>T (p.(Met649Leu)), TSC2(NM_000548.5):c.1945A>T (p.M649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071615A>T" "" "VUS" "" "0000557181" "0" "30" "16" "2121623" "2121623" "subst" "4.48965E-5" "02330" "TSC2_003306" "g.2121623C>T" "" "" "" "TSC2(NM_000548.5):c.1946+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071622C>T" "" "likely benign" "" "0000557182" "0" "90" "16" "2121762" "2121762" "subst" "0" "01943" "TSC2_003611" "g.2121762A>G" "" "" "" "TSC2(NM_000548.3):c.1947-23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071761A>G" "" "pathogenic" "" "0000557183" "0" "90" "16" "2121784" "2121784" "subst" "0" "01943" "TSC2_002191" "g.2121784G>A" "" "" "" "TSC2(NM_000548.3):c.1947-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071783G>A" "" "pathogenic" "" "0000557184" "0" "30" "16" "2121819" "2121819" "subst" "5.03539E-5" "01804" "TSC2_001465" "g.2121819G>A" "" "" "" "TSC2(NM_000548.3):c.1981G>A (p.(Gly661Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071818G>A" "" "likely benign" "" "0000557185" "0" "10" "16" "2121869" "2121869" "subst" "0.00250745" "02327" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071868C>T" "" "benign" "" "0000557186" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "02330" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071869G>A" "" "likely benign" "" "0000557187" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "01804" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071869G>A" "" "likely benign" "" "0000557188" "0" "90" "16" "2121911" "2121912" "dup" "0" "01943" "TSC2_002355" "g.2121911_2121912dup" "" "" "" "TSC2(NM_000548.3):c.2073_2074dupCG (p.V692Afs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071910_2071911dup" "" "pathogenic" "" "0000557189" "0" "30" "16" "2121978" "2121978" "subst" "0.00921303" "01943" "TSC2_001224" "g.2121978A>G" "" "" "" "TSC2(NM_000548.3):c.2097+43A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071977A>G" "" "likely benign" "" "0000557191" "0" "90" "16" "2122251" "2122251" "dup" "0" "01943" "TSC2_002194" "g.2122251dup" "" "" "" "TSC2(NM_000548.3):c.2107dupT (p.W703Lfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072250dup" "" "pathogenic" "" "0000557192" "0" "50" "16" "2122257" "2122257" "subst" "0" "01943" "TSC2_001466" "g.2122257G>C" "" "" "" "TSC2(NM_001114382.2):c.2113G>C (p.V705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072256G>C" "" "VUS" "" "0000557193" "0" "90" "16" "2122327" "2122327" "dup" "0" "01943" "TSC2_002356" "g.2122327dup" "" "" "" "TSC2(NM_000548.3):c.2183dupG (p.C728Wfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072326dup" "" "pathogenic" "" "0000557194" "0" "30" "16" "2122369" "2122369" "subst" "0" "02330" "TSC2_001467" "g.2122369C>G" "" "" "" "TSC2(NM_000548.5):c.2220+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072368C>G" "" "likely benign" "" "0000557195" "0" "10" "16" "2122823" "2122824" "dup" "0" "01943" "TSC2_001468" "g.2122823_2122824dup" "" "" "" "TSC2(NM_000548.3):c.2221-26_2221-25dupGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072822_2072823dup" "" "benign" "" "0000557196" "0" "50" "16" "2122857" "2122857" "subst" "0" "02325" "TSC2_001469" "g.2122857G>T" "" "" "" "TSC2(NM_000548.5):c.2228G>T (p.G743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2072856G>T" "" "VUS" "" "0000557197" "0" "30" "16" "2124203" "2124203" "subst" "8.20028E-6" "02330" "TSC2_001470" "g.2124203C>T" "" "" "" "TSC2(NM_000548.3):c.2358C>T (p.R786=), TSC2(NM_000548.5):c.2358C>T (p.R786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074202C>T" "" "likely benign" "" "0000557198" "0" "90" "16" "2124225" "2124225" "dup" "0" "01943" "TSC2_002205" "g.2124225dup" "" "" "" "TSC2(NM_000548.3):c.2380dupC (p.Q794Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074224dup" "" "pathogenic" "" "0000557199" "0" "30" "16" "2124272" "2124272" "subst" "0.000183152" "02330" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074271C>T" "" "likely benign" "" "0000557200" "0" "30" "16" "2124296" "2124296" "subst" "0.000948172" "01943" "TSC2_002359" "g.2124296C>T" "" "" "" "TSC2(NM_000548.3):c.2451C>T (p.D817=), TSC2(NM_000548.5):c.2451C>T (p.D817=), TSC2(NM_001114382.2):c.2451C>T (p.D817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074295C>T" "" "likely benign" "" "0000557201" "0" "30" "16" "2124347" "2124347" "subst" "0" "01943" "TSC2_001471" "g.2124347A>G" "" "" "" "TSC2(NM_001114382.2):c.2502A>G (p.S834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2074346A>G" "" "likely benign" "" "0000557202" "0" "30" "16" "2125819" "2125819" "subst" "0.000346074" "02330" "TSC2_001472" "g.2125819C>T" "" "" "" "TSC2(NM_000548.5):c.2565C>T (p.H855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075818C>T" "" "likely benign" "" "0000557203" "0" "90" "16" "2125862" "2125867" "dup" "0" "01943" "TSC2_001027" "g.2125862_2125867dup" "" "" "" "TSC2(NM_000548.3):c.2608_2613dupGCCATC (p.A870_I871dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075861_2075866dup" "" "pathogenic" "" "0000557204" "0" "10" "16" "2125937" "2125937" "subst" "0.106649" "02326" "TSC2_000206" "g.2125937C>G" "" "" "" "TSC2(NM_000548.3):c.2639+44C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075936C>G" "" "benign" "" "0000557205" "0" "30" "16" "2126141" "2126141" "subst" "8.94491E-5" "02330" "TSC2_003448" "g.2126141C>G" "" "" "" "TSC2(NM_000548.5):c.2712C>G (p.F904L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076140C>G" "" "likely benign" "" "0000557206" "0" "50" "16" "2126488" "2126492" "dup" "0" "01943" "TSC2_000483" "g.2126488_2126492dup" "" "" "" "TSC2(NM_000548.3):c.2743-5_2743-4insCCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076487_2076491dup" "" "VUS" "" "0000557207" "0" "30" "16" "2126489" "2126489" "subst" "0.000268402" "02330" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076488C>A" "" "likely benign" "" "0000557208" "0" "30" "16" "2126533" "2126533" "subst" "0.000333333" "01943" "TSC2_003323" "g.2126533C>T" "" "" "" "TSC2(NM_001114382.2):c.2784C>T (p.P928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076532C>T" "" "likely benign" "" "0000557213" "0" "10" "16" "2127819" "2127821" "dup" "0" "01943" "TSC2_002368" "g.2127819_2127821dup" "" "" "" "TSC2(NM_000548.3):c.2966+92_2966+94dupATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2077818_2077820dup" "" "benign" "" "0000557217" "0" "90" "16" "2129034" "2129037" "dup" "0" "01943" "TSC2_002369" "g.2129034_2129037dup" "" "" "" "TSC2(NM_000548.3):c.2968_2971dupAGGA (p.I991Kfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079033_2079036dup" "" "pathogenic" "" "0000557218" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "02330" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079043C>T" "" "likely benign" "" "0000557219" "0" "10" "16" "2129044" "2129044" "subst" "3.6642E-5" "01943" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079043C>T" "" "benign" "" "0000557220" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "02329" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079043C>T" "" "likely benign" "" "0000557221" "0" "90" "16" "2129164" "2129164" "dup" "0" "01943" "TSC2_000493" "g.2129164dup" "" "" "" "TSC2(NM_000548.3):c.3098dupA (p.Y1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079163dup" "" "pathogenic" "" "0000557222" "0" "90" "16" "2129197" "2129197" "subst" "0" "01943" "TSC2_002225" "g.2129197G>A" "" "" "" "TSC2(NM_000548.3):c.3131G>A (p.R1044K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079196G>A" "" "pathogenic" "" "0000557223" "0" "30" "16" "2129567" "2129567" "subst" "2.93834E-5" "01943" "TSC2_003172" "g.2129567C>T" "" "" "" "TSC2(NM_000548.3):c.3294C>T (p.P1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079566C>T" "" "likely benign" "" "0000557224" "0" "30" "16" "2129569" "2129569" "subst" "0" "02330" "TSC2_001473" "g.2129569G>C" "" "" "" "TSC2(NM_000548.5):c.3296G>C (p.G1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079568G>C" "" "likely benign" "" "0000557225" "0" "90" "16" "2129580" "2129581" "ins" "0" "01943" "TSC2_002235" "g.2129580_2129581insC" "" "" "" "TSC2(NM_000548.3):c.3307_3308insC (p.R1103Tfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079579_2079580insC" "" "pathogenic" "" "0000557226" "0" "90" "16" "2129600" "2129610" "del" "0" "01943" "TSC2_002237" "g.2129600_2129610del" "" "" "" "TSC2(NM_000548.3):c.3327_3337delGGCCAAGCTGG (p.A1110Vfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079599_2079609del" "" "pathogenic" "" "0000557227" "0" "50" "16" "2129632" "2129632" "subst" "0" "01943" "TSC2_002065" "g.2129632T>A" "" "" "" "TSC2(NM_000548.3):c.3359T>A (p.V1120E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079631T>A" "" "VUS" "" "0000557228" "0" "30" "16" "2129645" "2129645" "subst" "0" "02330" "TSC2_001474" "g.2129645C>T" "" "" "" "TSC2(NM_000548.5):c.3372C>T (p.A1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079644C>T" "" "likely benign" "" "0000557229" "0" "90" "16" "2130165" "2130165" "subst" "0" "01943" "TSC2_000514" "g.2130165G>A" "" "" "" "TSC2(NM_000548.3):c.3398-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080164G>A" "" "pathogenic" "" "0000557230" "0" "90" "16" "2130181" "2130182" "ins" "0" "01943" "TSC2_002374" "g.2130181_2130182insC" "" "" "" "TSC2(NM_000548.3):c.3413_3414insC (p.V1139Sfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080180_2080181insC" "" "pathogenic" "" "0000557231" "0" "50" "16" "2130277" "2130277" "subst" "0" "01943" "TSC2_001475" "g.2130277C>T" "" "" "" "TSC2(NM_001114382.2):c.3509C>T (p.S1170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080276C>T" "" "VUS" "" "0000557232" "0" "30" "16" "2130384" "2130384" "subst" "0.000618873" "02330" "TSC2_000524" "g.2130384G>A" "" "" "" "TSC2(NM_000548.3):c.3610+6G>A, TSC2(NM_000548.5):c.3610+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080383G>A" "" "likely benign" "" "0000557233" "0" "10" "16" "2130384" "2130384" "subst" "0.000618873" "01943" "TSC2_000524" "g.2130384G>A" "" "" "" "TSC2(NM_000548.3):c.3610+6G>A, TSC2(NM_000548.5):c.3610+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080383G>A" "" "benign" "" "0000557234" "0" "30" "16" "2130384" "2130384" "subst" "0.000618873" "02325" "TSC2_000524" "g.2130384G>A" "" "" "" "TSC2(NM_000548.3):c.3610+6G>A, TSC2(NM_000548.5):c.3610+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080383G>A" "" "likely benign" "" "0000557235" "0" "10" "16" "2130420" "2130420" "dup" "0" "01943" "TSC2_002375" "g.2130420dup" "" "" "" "TSC2(NM_000548.3):c.3610+42dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080419dup" "" "benign" "" "0000557236" "0" "30" "16" "2131583" "2131583" "subst" "0" "02330" "TSC2_001476" "g.2131583G>C" "" "" "" "TSC2(NM_000548.5):c.3611-13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081582G>C" "" "likely benign" "" "0000557237" "0" "90" "16" "2131622" "2131622" "del" "0" "01943" "TSC2_002245" "g.2131622del" "" "" "" "TSC2(NM_000548.3):c.3637delG (p.E1213Rfs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081621del" "" "pathogenic" "" "0000557238" "0" "90" "16" "2131670" "2131670" "subst" "0" "01943" "TSC2_000527" "g.2131670C>T" "" "" "" "TSC2(NM_000548.3):c.3685C>T (p.Q1229*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081669C>T" "" "pathogenic" "" "0000557239" "0" "90" "16" "2131681" "2131681" "dup" "0" "01943" "TSC2_000783" "g.2131681dup" "" "" "" "TSC2(NM_000548.3):c.3696dupT (p.N1233*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081680dup" "" "pathogenic" "" "0000557240" "0" "90" "16" "2131684" "2131684" "dup" "0" "01943" "TSC2_002247" "g.2131684dup" "" "" "" "TSC2(NM_000548.3):c.3699dupC (p.A1234Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081683dup" "" "pathogenic" "" "0000557241" "0" "30" "16" "2131702" "2131702" "subst" "1.22209E-5" "01943" "TSC2_003621" "g.2131702G>A" "" "" "" "TSC2(NM_000548.3):c.3717G>A (p.E1239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081701G>A" "" "likely benign" "" "0000557242" "0" "90" "16" "2131735" "2131735" "del" "0" "01943" "TSC2_003622" "g.2131735del" "" "" "" "TSC2(NM_000548.3):c.3750delC (p.Y1250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081734del" "" "pathogenic" "" "0000557243" "0" "30" "16" "2131788" "2131788" "subst" "0.000163084" "02330" "TSC2_001137" "g.2131788G>A" "" "" "" "TSC2(NM_000548.3):c.3803G>A (p.R1268H), TSC2(NM_000548.5):c.3803G>A (p.R1268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081787G>A" "" "likely benign" "" "0000557244" "0" "90" "16" "2131800" "2131800" "subst" "0" "01943" "TSC2_001201" "g.2131800G>A" "" "" "" "TSC2(NM_000548.3):c.3814+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081799G>A" "" "pathogenic" "" "0000557245" "0" "30" "16" "2132422" "2132422" "subst" "0.00208155" "02330" "TSC2_000536" "g.2132422G>A" "" "" "" "TSC2(NM_000548.3):c.3815-15G>A, TSC2(NM_000548.5):c.3815-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2082421G>A" "" "likely benign" "" "0000557246" "0" "50" "16" "2132422" "2132422" "subst" "0.00208155" "01943" "TSC2_000536" "g.2132422G>A" "" "" "" "TSC2(NM_000548.3):c.3815-15G>A, TSC2(NM_000548.5):c.3815-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2082421G>A" "" "VUS" "" "0000557249" "0" "10" "16" "2133640" "2133640" "subst" "0" "02326" "TSC2_000272" "g.2133640C>G" "" "" "" "TSC2(NM_000548.3):c.3884-56C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2083639C>G" "" "benign" "" "0000557250" "0" "30" "16" "2133679" "2133679" "subst" "0.00052936" "02330" "TSC2_000541" "g.2133679C>G" "" "" "" "TSC2(NM_000548.3):c.3884-17C>G, TSC2(NM_000548.5):c.3884-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2083678C>G" "" "likely benign" "" "0000557251" "0" "10" "16" "2134208" "2134208" "subst" "8.93325E-5" "01943" "TSC2_002379" "g.2134208C>T" "" "" "" "TSC2(NM_000548.3):c.4006-21C>T, TSC2(NM_000548.5):c.4006-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084207C>T" "" "benign" "" "0000557252" "0" "10" "16" "2134270" "2134270" "subst" "0.000109993" "01943" "TSC2_000763" "g.2134270G>A" "" "" "" "TSC2(NM_000548.3):c.4047G>A (p.A1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084269G>A" "" "benign" "" "0000557253" "0" "90" "16" "2134311" "2134318" "dup" "0" "01943" "TSC2_002259" "g.2134311_2134318dup" "" "" "" "TSC2(NM_000548.3):c.4088_4095dupTCTCCTCG (p.E1366Sfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084310_2084317dup" "" "pathogenic" "" "0000557254" "0" "30" "16" "2134328" "2134328" "subst" "0.000253707" "02330" "TSC2_000558" "g.2134328C>T" "" "" "" "TSC2(NM_000548.5):c.4105C>T (p.R1369W, p.(Arg1369Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084327C>T" "" "likely benign" "" "0000557255" "0" "10" "16" "2134438" "2134438" "subst" "0.00890403" "02329" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084437C>T" "" "benign" "" "0000557256" "0" "90" "16" "2134506" "2134506" "del" "0" "01943" "TSC2_002267" "g.2134506del" "" "" "" "TSC2(NM_000548.3):c.4283delC (p.A1428Vfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084505del" "" "pathogenic" "" "0000557257" "0" "30" "16" "2134516" "2134516" "subst" "0.000272893" "01943" "TSC2_000919" "g.2134516G>A" "" "" "" "TSC2(NM_001114382.2):c.4224G>A (p.S1408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084515G>A" "" "likely benign" "" "0000557258" "0" "90" "16" "2134575" "2134575" "dup" "0" "01943" "TSC2_002382" "g.2134575dup" "" "" "" "TSC2(NM_000548.3):c.4352dupG (p.S1452Lfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084574dup" "" "pathogenic" "" "0000557259" "0" "30" "16" "2134615" "2134615" "subst" "0" "01943" "TSC2_001480" "g.2134615C>T" "" "" "" "TSC2(NM_001114382.2):c.4323C>T (p.S1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084614C>T" "" "likely benign" "" "0000557260" "0" "90" "16" "2134624" "2134625" "ins" "0" "01943" "TSC2_002272" "g.2134624_2134625insT" "" "" "" "TSC2(NM_000548.3):c.4401_4402insT (p.P1468Sfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084623_2084624insT" "" "pathogenic" "" "0000557261" "0" "90" "16" "2134632" "2134632" "dup" "0" "01943" "TSC2_002273" "g.2134632dup" "" "" "" "TSC2(NM_000548.3):c.4409dupG (p.R1471Qfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084631dup" "" "pathogenic" "" "0000557262" "0" "30" "16" "2134649" "2134649" "subst" "1.70555E-5" "02330" "TSC2_001481" "g.2134649G>A" "" "" "" "TSC2(NM_000548.5):c.4426G>A (p.E1476K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084648G>A" "" "likely benign" "" "0000557263" "0" "10" "16" "2134671" "2134671" "subst" "2.13591E-5" "01943" "TSC2_002385" "g.2134671G>C" "" "" "" "TSC2(NM_000548.3):c.4448G>C (p.R1483T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084670G>C" "" "benign" "" "0000557264" "0" "30" "16" "2134680" "2134680" "subst" "4.27394E-6" "02330" "TSC2_004254" "g.2134680C>T" "" "" "" "TSC2(NM_000548.5):c.4457C>T (p.A1486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084679C>T" "" "likely benign" "" "0000557265" "0" "10" "16" "2134803" "2134803" "del" "0" "01943" "TSC2_002276" "g.2134803del" "" "" "" "TSC2(NM_000548.3):c.4493+87delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084802del" "" "benign" "" "0000557266" "0" "30" "16" "2134940" "2134940" "dup" "0" "02329" "TSC2_004050" "g.2134940dup" "" "" "" "TSC2(NM_000548.3):c.4494-12dupC, TSC2(NM_000548.5):c.4494-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084939dup" "" "likely benign" "" "0000557267" "0" "30" "16" "2135023" "2135023" "subst" "6.51121E-5" "01943" "TSC2_002070" "g.2135023A>G" "" "" "" "TSC2(NM_001114382.2):c.4496A>G (p.N1499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2085022A>G" "" "likely benign" "" "0000557269" "0" "30" "16" "2135260" "2135260" "subst" "2.03654E-5" "02330" "TSC2_004069" "g.2135260C>T" "" "" "" "TSC2(NM_000548.3):c.4599C>T (p.L1533=), TSC2(NM_000548.5):c.4599C>T (p.L1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2085259C>T" "" "likely benign" "" "0000557270" "0" "90" "16" "2135323" "2135323" "subst" "0" "01943" "TSC2_000599" "g.2135323G>A" "" "" "" "TSC2(NM_000548.3):c.4662G>A (p.Q1554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2085322G>A" "" "pathogenic" "" "0000557271" "0" "30" "16" "2136156" "2136176" "dup" "0" "02330" "TSC2_000927" "g.2136156_2136176dup" "" "" "" "TSC2(NM_000548.3):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT, TSC2(NM_000548.5):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086155_2086175dup" "" "likely benign" "" "0000557272" "0" "50" "16" "2136156" "2136176" "dup" "0" "01943" "TSC2_000927" "g.2136156_2136176dup" "" "" "" "TSC2(NM_000548.3):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT, TSC2(NM_000548.5):c.4663-38_4663-18dupGGGAGTGATGCCACCCTGCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086155_2086175dup" "" "VUS" "" "0000557273" "0" "90" "16" "2136193" "2136193" "subst" "0" "01943" "TSC2_002285" "g.2136193G>C" "" "" "" "TSC2(NM_000548.3):c.4663-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086192G>C" "" "pathogenic" "" "0000557274" "0" "90" "16" "2136196" "2136196" "dup" "0" "01943" "TSC2_002389" "g.2136196dup" "" "" "" "TSC2(NM_000548.3):c.4665dupC (p.N1556Qfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086195dup" "" "pathogenic" "" "0000557275" "0" "90" "16" "2136203" "2136215" "dup" "0" "01943" "TSC2_002286" "g.2136203_2136215dup" "" "" "" "TSC2(NM_000548.3):c.4672_4684dupGAGCTCGCCATCC (p.L1562Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086202_2086214dup" "" "pathogenic" "" "0000557276" "0" "30" "16" "2136280" "2136280" "subst" "4.07385E-6" "01943" "TSC2_003628" "g.2136280G>A" "" "" "" "TSC2(NM_000548.3):c.4749G>A (p.E1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086279G>A" "" "likely benign" "" "0000557277" "0" "90" "16" "2136293" "2136293" "subst" "0" "01943" "TSC2_000866" "g.2136293C>T" "" "" "" "TSC2(NM_000548.3):c.4762C>T (p.Q1588*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086292C>T" "" "pathogenic" "" "0000557278" "0" "90" "16" "2136308" "2136308" "dup" "0" "01943" "TSC2_002290" "g.2136308dup" "" "" "" "TSC2(NM_000548.3):c.4777dupT (p.Y1593Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086307dup" "" "pathogenic" "" "0000557279" "0" "90" "16" "2136360" "2136360" "subst" "0" "01943" "TSC2_000614" "g.2136360G>A" "" "" "" "TSC2(NM_000548.3):c.4829G>A (p.W1610*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086359G>A" "" "pathogenic" "" "0000557280" "0" "10" "16" "2136791" "2136791" "subst" "0.000527176" "01943" "TSC2_002395" "g.2136791C>T" "" "" "" "TSC2(NM_000548.3):c.4908C>T (p.D1636=), TSC2(NM_000548.5):c.4908C>T (p.D1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086790C>T" "" "benign" "" "0000557281" "0" "30" "16" "2136791" "2136791" "subst" "0.000527176" "02329" "TSC2_002395" "g.2136791C>T" "" "" "" "TSC2(NM_000548.3):c.4908C>T (p.D1636=), TSC2(NM_000548.5):c.4908C>T (p.D1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086790C>T" "" "likely benign" "" "0000557282" "0" "90" "16" "2136801" "2136801" "subst" "0" "01943" "TSC2_000598" "g.2136801C>T" "" "" "" "TSC2(NM_000548.3):c.4918C>T (p.H1640Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086800C>T" "" "pathogenic" "" "0000557283" "0" "90" "16" "2136855" "2136856" "dup" "0" "01943" "TSC2_003630" "g.2136855_2136856dup" "" "" "" "TSC2(NM_000548.3):c.4972_4973dupAA (p.L1659Sfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086854_2086855dup" "" "pathogenic" "" "0000557284" "0" "30" "16" "2137857" "2137857" "subst" "0.00229678" "01804" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087856C>T" "" "likely benign" "" "0000557285" "0" "30" "16" "2137899" "2137899" "subst" "0.00103952" "01943" "TSC2_000630" "g.2137899G>A" "" "" "" "TSC2(NM_000548.3):c.5025G>A (p.P1675=), TSC2(NM_000548.5):c.5025G>A (p.P1675=), TSC2(NM_001370404.1):c.4893G>A (p.P1631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087898G>A" "" "likely benign" "" "0000557286" "0" "30" "16" "2137969" "2138002" "dup" "0" "02330" "TSC2_000686" "g.2137969_2138002dup" "" "" "" "TSC2(NM_000548.5):c.5068_5069ins34 (p.D1690Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087968_2088001dup" "" "likely benign" "" "0000557287" "0" "10" "16" "2138002" "2138036" "dup" "0" "01943" "TSC2_002399" "g.2138002_2138036dup" "" "" "" "TSC2(NM_000548.3):c.5069-47_5069-13dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088001_2088035dup" "" "benign" "" "0000557288" "0" "10" "16" "2138035" "2138037" "del" "0" "01943" "TSC2_002398" "g.2138035_2138037del" "" "" "" "TSC2(NM_000548.3):c.5069-14_5069-12delCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088034_2088036del" "" "benign" "" "0000557289" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "02330" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088085C>A" "" "likely benign" "" "0000557290" "0" "90" "16" "2138088" "2138088" "dup" "0" "01943" "TSC2_002304" "g.2138088dup" "" "" "" "TSC2(NM_000548.3):c.5108dupT (p.S1704Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088087dup" "" "pathogenic" "" "0000557291" "0" "30" "16" "2138096" "2138096" "subst" "0.000297089" "02330" "TSC2_000645" "g.2138096C>T" "" "" "" "TSC2(NM_000548.3):c.5116C>T (p.R1706C), TSC2(NM_000548.5):c.5116C>T (p.R1706C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088095C>T" "" "likely benign" "" "0000557292" "0" "50" "16" "2138096" "2138096" "subst" "0.000297089" "01943" "TSC2_000645" "g.2138096C>T" "" "" "" "TSC2(NM_000548.3):c.5116C>T (p.R1706C), TSC2(NM_000548.5):c.5116C>T (p.R1706C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088095C>T" "" "VUS" "" "0000557293" "0" "30" "16" "2138111" "2138111" "subst" "0.000231983" "02330" "TSC2_001243" "g.2138111G>A" "" "" "" "TSC2(NM_000548.5):c.5131G>A (p.V1711M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088110G>A" "" "likely benign" "" "0000557294" "0" "30" "16" "2138122" "2138122" "subst" "5.69754E-5" "02330" "TSC2_003245" "g.2138122G>A" "" "" "" "PKD1(NM_001009944.3):c.*1606C>T, TSC2(NM_000548.5):c.5142G>A (p.Q1714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088121G>A" "" "likely benign" "" "0000557295" "0" "90" "16" "2138134" "2138137" "dup" "0" "01943" "TSC2_002307" "g.2138134_2138137dup" "" "" "" "TSC2(NM_000548.3):c.5154_5157dupCGCA (p.N1720Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088133_2088136dup" "" "pathogenic" "" "0000557296" "0" "50" "16" "2138142" "2138142" "dup" "0" "01943" "TSC2_002309" "g.2138142dup" "" "" "" "TSC2(NM_000548.3):c.5160+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088141dup" "" "VUS" "" "0000557297" "0" "10" "16" "2138200" "2138203" "del" "0" "01943" "TSC2_000307" "g.2138200_2138203del" "" "" "" "TSC2(NM_000548.3):c.5161-28_5161-25delTGAG, TSC2(NM_000548.5):c.5161-28_5161-25delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088199_2088202del" "" "benign" "" "0000557298" "0" "10" "16" "2138219" "2138219" "subst" "0.00311057" "02330" "TSC2_000297" "g.2138219C>T" "" "" "" "PKD1(NM_001009944.3):c.*1509G>A, TSC2(NM_000548.3):c.5161-9C>T, TSC2(NM_000548.5):c.5161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088218C>T" "" "benign" "" "0000557300" "0" "50" "16" "2138267" "2138267" "subst" "0" "01943" "TSC2_001486" "g.2138267G>T" "" "" "" "TSC2(NM_000548.3):c.5200G>T (p.D1734Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088266G>T" "" "VUS" "" "0000557301" "0" "90" "16" "2138267" "2138267" "dup" "0" "01943" "TSC2_003636" "g.2138267dup" "" "" "" "TSC2(NM_000548.3):c.5200dupG (p.D1734Gfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088266dup" "" "pathogenic" "" "0000557302" "0" "90" "16" "2138271" "2138274" "dup" "0" "01943" "TSC2_002327" "g.2138271_2138274dup" "" "" "" "TSC2(NM_000548.3):c.5204_5207dupTCTA (p.P1737Lfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088270_2088273dup" "" "pathogenic" "" "0000557303" "0" "90" "16" "2138291" "2138308" "del" "0" "01943" "TSC2_002313" "g.2138291_2138308del" "" "" "" "TSC2(NM_000548.3):c.5224_5241delGCCCGGCTCCGCCACATC (p.A1742_I1747del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088290_2088307del" "" "pathogenic" "" "0000557304" "0" "90" "16" "2138295" "2138295" "subst" "0" "02325" "TSC2_000096" "g.2138295G>A" "" "" "" "TSC2(NM_000548.3):c.5228G>A (p.R1743Q), TSC2(NM_001114382.3):c.5159G>A (p.R1720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088294G>A" "" "pathogenic" "" "0000557305" "0" "90" "16" "2138295" "2138295" "subst" "0" "02327" "TSC2_000234" "g.2138295G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088294G>C" "" "pathogenic" "" "0000557306" "0" "30" "16" "2138324" "2138324" "subst" "8.16093E-6" "01943" "TSC2_001487" "g.2138324C>A" "" "" "" "TSC2(NM_001114382.2):c.5188C>A (p.R1730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088323C>A" "" "likely benign" "" "0000557307" "0" "10" "16" "2138432" "2138432" "subst" "0.00153203" "01943" "TSC2_000338" "g.2138432C>T" "" "" "" "PKD1(NM_001009944.3):c.*1296G>A, TSC2(NM_000548.3):c.5260-15C>T, TSC2(NM_000548.5):c.5260-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088431C>T" "" "benign" "" "0000557308" "0" "30" "16" "2138432" "2138432" "subst" "0.00153203" "02329" "TSC2_000338" "g.2138432C>T" "" "" "" "PKD1(NM_001009944.3):c.*1296G>A, TSC2(NM_000548.3):c.5260-15C>T, TSC2(NM_000548.5):c.5260-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088431C>T" "" "likely benign" "" "0000557309" "0" "30" "16" "2138448" "2138448" "subst" "4.07209E-6" "02330" "TSC2_001488" "g.2138448T>G" "" "" "" "TSC2(NM_000548.5):c.5261T>G (p.I1754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088447T>G" "" "likely benign" "" "0000557310" "0" "90" "16" "2138456" "2138457" "dup" "0" "01943" "TSC2_002321" "g.2138456_2138457dup" "" "" "" "TSC2(NM_000548.3):c.5269_5270dupGA (p.A1758Kfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088455_2088456dup" "" "pathogenic" "" "0000557311" "0" "90" "16" "2138468" "2138469" "dup" "0" "01943" "TSC2_003587" "g.2138468_2138469dup" "" "" "" "TSC2(NM_000548.3):c.5281_5282dupTC (p.N1762Pfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088467_2088468dup" "" "pathogenic" "" "0000557312" "0" "30" "16" "2138546" "2138546" "subst" "0.0022029" "01804" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088545G>A" "" "likely benign" "" "0000557313" "0" "30" "16" "2138570" "2138570" "subst" "0.00148943" "02330" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088569C>T" "" "likely benign" "" "0000557314" "0" "50" "16" "2138570" "2138570" "subst" "0.00148943" "01804" "TSC2_000666" "g.2138570C>T" "" "" "" "TSC2(NM_000548.3):c.5383C>T (p.R1795C, p.(Arg1795Cys)), TSC2(NM_000548.5):c.5383C>T (p.R1795C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088569C>T" "" "VUS" "" "0000557315" "0" "90" "16" "2138589" "2138598" "dup" "0" "01943" "TSC2_003638" "g.2138589_2138598dup" "" "" "" "TSC2(NM_000548.3):c.5402_5411dupAGGACTTCAC (p.E1805Gfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088588_2088597dup" "" "pathogenic" "" "0000557316" "0" "30" "16" "2139849" "2139849" "subst" "1.76197E-5" "01804" "PKD1_002902" "g.2139849G>A" "" "" "" "PKD1(NM_000296.3):c.12788C>T (p.(Pro4263Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2089848G>A" "" "likely benign" "" "0000557317" "0" "10" "16" "2139976" "2139976" "subst" "0.00229081" "02326" "PKD1_002900" "g.2139976G>A" "" "" "" "PKD1(NM_000296.3):c.12661C>T (p.(Leu4221=)), PKD1(NM_001009944.2):c.12664C>T (p.L4222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2089975G>A" "" "benign" "" "0000557318" "0" "30" "16" "2140294" "2140294" "subst" "0.0045433" "01804" "PKD1_000530" "g.2140294C>T" "" "" "" "PKD1(NM_000296.3):c.12433G>A (p.(Val4145Ile)), PKD1(NM_000296.4):c.12433G>A (p.V4145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090293C>T" "" "likely benign" "" "0000557320" "0" "30" "16" "2140596" "2140596" "subst" "0.000565692" "01804" "PKD1_002896" "g.2140596G>A" "" "" "" "PKD1(NM_000296.3):c.12136-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090595G>A" "" "likely benign" "" "0000557321" "0" "90" "16" "2140782" "2140782" "subst" "0" "02327" "PKD1_000044" "g.2140782G>A" "" "" "" "PKD1(NM_001009944.2):c.12031C>T (p.(Gln4011Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090781G>A" "" "pathogenic" "" "0000557323" "0" "90" "16" "2140953" "2140953" "subst" "0" "02327" "PKD1_000464" "g.2140953G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090952G>A" "" "pathogenic" "" "0000557324" "0" "10" "16" "2140972" "2140972" "subst" "0.0202177" "01804" "PKD1_000765" "g.2140972G>A" "" "" "" "PKD1(NM_000296.3):c.11913C>T (p.(Arg3971=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090971G>A" "" "benign" "" "0000557325" "0" "10" "16" "2141229" "2141262" "dup" "0" "02326" "PKD1_002889" "g.2141229_2141262dup" "" "" "" "PKD1(NM_001009944.2):c.11713-30_11713-29ins34" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091228_2091261dup" "" "benign" "" "0000557327" "0" "30" "16" "2141461" "2141461" "subst" "0" "01804" "PKD1_002888" "g.2141461C>T" "" "" "" "PKD1(NM_000296.3):c.11672G>A (p.(Arg3891His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091460C>T" "" "likely benign" "" "0000557328" "0" "50" "16" "2141461" "2141461" "subst" "0" "02327" "PKD1_002888" "g.2141461C>T" "" "" "" "PKD1(NM_000296.3):c.11672G>A (p.(Arg3891His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091460C>T" "" "VUS" "" "0000557330" "0" "10" "16" "2141777" "2141779" "dup" "0" "02326" "PKD1_000081" "g.2141777_2141779dup" "" "" "" "PKD1(NM_000296.3):c.11534+3_11534+5dup (p.?), PKD1(NM_001009944.2):c.11537+5_11537+6insGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091776_2091778dup" "" "benign" "" "0000557331" "0" "30" "16" "2141777" "2141779" "dup" "0" "01804" "PKD1_000081" "g.2141777_2141779dup" "" "" "" "PKD1(NM_000296.3):c.11534+3_11534+5dup (p.?), PKD1(NM_001009944.2):c.11537+5_11537+6insGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091776_2091778dup" "" "likely benign" "" "0000557332" "0" "30" "16" "2141913" "2141913" "subst" "0.000497664" "01804" "NTHL1_000182" "g.2141913G>A" "" "" "" "PKD1(NM_000296.3):c.11409-6C>T (p.(=)), PKD1(NM_001009944.2):c.11412-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091912G>A" "" "likely benign" "" "0000557333" "0" "30" "16" "2142083" "2142083" "subst" "0.00445305" "01943" "PKD1_002883" "g.2142083C>G" "" "" "" "PKD1(NM_001009944.2):c.11376G>C (p.S3792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092082C>G" "" "likely benign" "" "0000557334" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "01804" "PKD1_002882" "g.2142103C>G" "" "" "" "PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092102C>G" "" "likely benign" "" "0000557335" "0" "30" "16" "2142113" "2142113" "subst" "0.00470186" "01804" "PKD1_000815" "g.2142113G>A" "" "" "" "PKD1(NM_000296.3):c.11343C>T (p.(Asp3781=)), PKD1(NM_000296.4):c.11343C>T (p.D3781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092112G>A" "" "likely benign" "" "0000557337" "0" "90" "16" "2142146" "2142146" "del" "0" "02327" "PKD1_002881" "g.2142146del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092145del" "" "pathogenic" "" "0000557338" "0" "50" "16" "2142501" "2142501" "subst" "4.11238E-6" "02327" "PKD1_000466" "g.2142501C>T" "" "" "" "PKD1(NM_000296.3):c.11246G>A (p.(Arg3749Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2092500C>T" "" "VUS" "" "0000557339" "0" "30" "16" "2143097" "2143097" "subst" "0.00107037" "01804" "NTHL1_000187" "g.2143097G>A" "" "" "" "PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093096G>A" "" "likely benign" "" "0000557340" "0" "50" "16" "2143547" "2143547" "subst" "0" "01943" "PKD1_002878" "g.2143547G>A" "" "" "" "PKD1(NM_001009944.2):c.11014C>T (p.R3672W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093546G>A" "" "VUS" "" "0000557341" "0" "10" "16" "2143865" "2143865" "subst" "0.0219739" "01804" "PKD1_000769" "g.2143865G>A" "" "" "" "PKD1(NM_000296.3):c.10765C>T (p.(Leu3589=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093864G>A" "" "benign" "" "0000557342" "0" "10" "16" "2143865" "2143865" "subst" "0.0219739" "02327" "PKD1_000769" "g.2143865G>A" "" "" "" "PKD1(NM_000296.3):c.10765C>T (p.(Leu3589=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093864G>A" "" "benign" "" "0000557343" "0" "50" "16" "2144014" "2144014" "subst" "0.000198864" "01804" "PKD1_001026" "g.2144014C>G" "" "" "" "PKD1(NM_000296.3):c.10616G>C (p.(Gly3539Ala)), PKD1(NM_001009944.2):c.10619G>C (p.G3540A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2094013C>G" "" "VUS" "" "0000557344" "0" "30" "16" "2144180" "2144180" "subst" "0.00130126" "01804" "PKD1_000016" "g.2144180G>C" "" "" "" "PKD1(NM_000296.3):c.10528C>G (p.(Leu3510Val)), PKD1(NM_001009944.2):c.10531C>G (p.L3511V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2094179G>C" "" "likely benign" "" "0000557345" "0" "50" "16" "2147388" "2147388" "del" "3.30314E-5" "01943" "PKD1_001027" "g.2147388del" "" "" "" "PKD1(NM_001009944.2):c.10337delT (p.L3446Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097387del" "" "VUS" "" "0000557346" "0" "30" "16" "2147390" "2147390" "subst" "3.30625E-5" "01943" "PKD1_001028" "g.2147390C>G" "" "" "" "PKD1(NM_001009944.2):c.10335G>C (p.G3445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097389C>G" "" "likely benign" "" "0000557347" "0" "50" "16" "2147395" "2147405" "del" "2.48841E-5" "01943" "PKD1_001029" "g.2147395_2147405del" "" "" "" "PKD1(NM_001009944.2):c.10320_10330delCCAGGCGGGCC (p.Q3441Wfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097394_2097404del" "" "VUS" "" "0000557348" "0" "30" "16" "2147421" "2147421" "subst" "0.00245984" "01804" "PKD1_001030" "g.2147421C>T" "" "" "" "PKD1(NM_000296.3):c.10301G>A (p.(Arg3434Gln)), PKD1(NM_001009944.2):c.10304G>A (p.R3435Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097420C>T" "" "likely benign" "" "0000557349" "0" "30" "16" "2147491" "2147491" "subst" "0.000777107" "01804" "PKD1_001031" "g.2147491G>A" "" "" "" "PKD1(NM_000296.3):c.10231C>T (p.(Pro3411Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097490G>A" "" "likely benign" "" "0000557350" "0" "30" "16" "2147500" "2147500" "subst" "0.0104089" "01804" "PKD1_000819" "g.2147500C>G" "" "" "" "PKD1(NM_000296.3):c.10222G>C (p.(Val3408Leu)), PKD1(NM_001009944.2):c.10225G>C (p.V3409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097499C>G" "" "likely benign" "" "0000557351" "0" "30" "16" "2147789" "2147789" "subst" "0.000199455" "01804" "PKD1_001032" "g.2147789G>A" "" "" "" "PKD1(NM_001009944.2):c.10168-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097788G>A" "" "likely benign" "" "0000557352" "0" "30" "16" "2147956" "2147956" "subst" "0.000162777" "01943" "PKD1_001033" "g.2147956G>A" "" "" "" "PKD1(NM_000296.3):c.10080C>T (p.(Ala3360=)), PKD1(NM_001009944.2):c.10080C>T (p.A3360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097955G>A" "" "likely benign" "" "0000557354" "0" "50" "16" "2149896" "2149896" "subst" "0.000227958" "01943" "PKD1_001035" "g.2149896C>T" "" "" "" "PKD1(NM_001009944.2):c.9889G>A (p.V3297M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2099895C>T" "" "VUS" "" "0000557355" "0" "30" "16" "2149933" "2149933" "subst" "1.89492E-5" "01943" "PKD1_001036" "g.2149933G>A" "" "" "" "PKD1(NM_001009944.2):c.9852C>T (p.C3284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2099932G>A" "" "likely benign" "" "0000557356" "0" "70" "16" "2149936" "2149936" "subst" "0" "01804" "PKD1_001037" "g.2149936G>C" "" "" "" "PKD1(NM_000296.3):c.9849C>G (p.(Cys3283Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2099935G>C" "" "likely pathogenic" "" "0000557357" "0" "50" "16" "2149956" "2149956" "subst" "0.000155417" "01943" "PKD1_000439" "g.2149956G>A" "" "" "" "PKD1(NM_000296.3):c.9829C>T (p.(Arg3277Cys)), PKD1(NM_001009944.2):c.9829C>T (p.R3277C), PKD1(NM_001009944.3):c.9829C>T (p.R3277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2099955G>A" "" "VUS" "" "0000557358" "0" "70" "16" "2149956" "2149956" "subst" "0.000155417" "02326" "PKD1_000439" "g.2149956G>A" "" "" "" "PKD1(NM_000296.3):c.9829C>T (p.(Arg3277Cys)), PKD1(NM_001009944.2):c.9829C>T (p.R3277C), PKD1(NM_001009944.3):c.9829C>T (p.R3277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2099955G>A" "" "likely pathogenic" "" "0000557359" "0" "90" "16" "2150311" "2150311" "subst" "0" "01804" "PKD1_001038" "g.2150311C>G" "" "" "" "PKD1(NM_000296.3):c.9569-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2100310C>G" "" "pathogenic" "" "0000557361" "0" "50" "16" "2152071" "2152071" "subst" "5.59018E-5" "01943" "PKD1_001039" "g.2152071G>A" "" "" "" "PKD1(NM_001009944.2):c.9388C>T (p.R3130W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2102070G>A" "" "VUS" "" "0000557362" "0" "30" "16" "2152109" "2152109" "subst" "0" "01943" "PKD1_001040" "g.2152109C>T" "" "" "" "PKD1(NM_001009944.2):c.9350G>A (p.R3117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2102108C>T" "" "likely benign" "" "0000557363" "0" "30" "16" "2152396" "2152396" "subst" "0.000224276" "01804" "PKD1_000715" "g.2152396G>A" "" "" "" "PKD1(NM_000296.3):c.9187C>T (p.(Arg3063Cys)), PKD1(NM_001009944.2):c.9187C>T (p.R3063C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2102395G>A" "" "likely benign" "" "0000557364" "0" "50" "16" "2152507" "2152507" "subst" "0" "01804" "PKD1_001041" "g.2152507G>C" "" "" "" "PKD1(NM_000296.3):c.9076C>G (p.(Arg3026Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2102506G>C" "" "VUS" "" "0000557366" "0" "30" "16" "2152619" "2152619" "subst" "0.00749875" "01943" "PKD1_001043" "g.2152619C>T" "" "" "" "PKD1(NM_000296.3):c.8964G>A (p.(Ala2988=)), PKD1(NM_001009944.2):c.8964G>A (p.A2988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2102618C>T" "" "likely benign" "" "0000557367" "0" "10" "16" "2152865" "2152865" "subst" "0.0120695" "02326" "PKD1_000152" "g.2152865C>G" "" "" "" "PKD1(NM_000296.3):c.8898G>C (p.(Glu2966Asp)), PKD1(NM_000296.4):c.8898G>C (p.E2966D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2102864C>G" "" "benign" "" "0000557368" "0" "50" "16" "2153335" "2153335" "subst" "5.07001E-5" "01943" "PKD1_001044" "g.2153335A>T" "" "" "" "PKD1(NM_001009944.2):c.8723T>A (p.V2908E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103334A>T" "" "VUS" "" "0000557369" "0" "10" "16" "2153618" "2153618" "subst" "0.00621509" "01804" "PKD1_000718" "g.2153618C>T" "" "" "" "PKD1(NM_000296.3):c.8440G>A (p.(Gly2814Arg)), PKD1(NM_001009944.2):c.8440G>A (p.G2814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103617C>T" "" "benign" "" "0000557370" "0" "70" "16" "2153618" "2153618" "dup" "0" "01804" "PKD1_001045" "g.2153618dup" "" "" "" "PKD1(NM_001009944.2):c.8443dupG (p.(Ala2815GlyfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103617dup" "" "likely pathogenic" "" "0000557371" "0" "10" "16" "2153694" "2153694" "subst" "0.00105915" "02326" "PKD1_000570" "g.2153694C>T" "" "" "" "PKD1(NM_000296.3):c.8364G>A (p.(Ser2788=)), PKD1(NM_001009944.2):c.8364G>A (p.S2788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103693C>T" "" "benign" "" "0000557372" "0" "30" "16" "2153714" "2153714" "subst" "0.000558008" "01804" "PKD1_001046" "g.2153714C>T" "" "" "" "PKD1(NM_000296.3):c.8344G>A (p.(Val2782Met)), PKD1(NM_001009944.2):c.8344G>A (p.V2782M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103713C>T" "" "likely benign" "" "0000557373" "0" "30" "16" "2153764" "2153764" "subst" "0.000131132" "01804" "PKD1_001047" "g.2153764C>T" "" "" "" "PKD1(NM_000296.3):c.8294G>A (p.(Arg2765His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103763C>T" "" "likely benign" "" "0000557374" "0" "30" "16" "2153765" "2153765" "subst" "0.00456926" "01943" "PKD1_000442" "g.2153765G>A" "" "" "" "PKD1(NM_000296.3):c.8293C>T (p.(Arg2765Cys)), PKD1(NM_001009944.2):c.8293C>T (p.R2765C), PKD1(NM_001009944.3):c.8293C>T (p.R2765C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103764G>A" "" "likely benign" "" "0000557375" "0" "50" "16" "2153765" "2153765" "subst" "0.00456926" "01804" "PKD1_000442" "g.2153765G>A" "" "" "" "PKD1(NM_000296.3):c.8293C>T (p.(Arg2765Cys)), PKD1(NM_001009944.2):c.8293C>T (p.R2765C), PKD1(NM_001009944.3):c.8293C>T (p.R2765C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103764G>A" "" "VUS" "" "0000557376" "0" "10" "16" "2153765" "2153765" "subst" "0.00456926" "02326" "PKD1_000442" "g.2153765G>A" "" "" "" "PKD1(NM_000296.3):c.8293C>T (p.(Arg2765Cys)), PKD1(NM_001009944.2):c.8293C>T (p.R2765C), PKD1(NM_001009944.3):c.8293C>T (p.R2765C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103764G>A" "" "benign" "" "0000557379" "0" "10" "16" "2154491" "2154491" "subst" "0.00543568" "01804" "PKD1_000719" "g.2154491C>T" "" "" "" "PKD1(NM_000296.3):c.8161+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2104490C>T" "" "benign" "" "0000557380" "0" "50" "16" "2154495" "2154495" "subst" "0" "01943" "PKD1_001050" "g.2154495G>A" "" "" "" "PKD1(NM_001009944.2):c.8161+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2104494G>A" "" "VUS" "" "0000557381" "0" "30" "16" "2154537" "2154537" "subst" "0.00960525" "01804" "PKD1_000720" "g.2154537G>A" "" "" "" "PKD1(NM_000296.3):c.8123C>T (p.(Thr2708Met)), PKD1(NM_001009944.2):c.8123C>T (p.T2708M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2104536G>A" "" "likely benign" "" "0000557382" "0" "30" "16" "2154573" "2154573" "subst" "0.0010848" "02326" "PKD1_000157" "g.2154573A>C" "" "" "" "PKD1(NM_000296.3):c.8087T>G (p.(Leu2696Arg)), PKD1(NM_001009944.2):c.8087T>G (p.L2696R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2104572A>C" "" "likely benign" "" "0000557384" "0" "10" "16" "2156153" "2156153" "subst" "0.00666958" "01804" "PKD1_001051" "g.2156153C>G" "" "" "" "PKD1(NM_000296.3):c.7642G>C (p.(Glu2548Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106152C>G" "" "benign" "" "0000557385" "0" "30" "16" "2156159" "2156159" "subst" "0.00164739" "01943" "PKD1_000476" "g.2156159G>A" "" "" "" "PKD1(NM_000296.3):c.7636C>T (p.(His2546Tyr)), PKD1(NM_001009944.2):c.7636C>T (p.H2546Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106158G>A" "" "likely benign" "" "0000557386" "0" "30" "16" "2156159" "2156159" "subst" "0.00164739" "01804" "PKD1_000476" "g.2156159G>A" "" "" "" "PKD1(NM_000296.3):c.7636C>T (p.(His2546Tyr)), PKD1(NM_001009944.2):c.7636C>T (p.H2546Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106158G>A" "" "likely benign" "" "0000557387" "0" "50" "16" "2156173" "2156173" "subst" "0.00034756" "01943" "PKD1_000607" "g.2156173G>A" "" "" "" "PKD1(NM_000296.3):c.7622C>T (p.(Pro2541Leu)), PKD1(NM_001009944.2):c.7622C>T (p.P2541L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106172G>A" "" "VUS" "" "0000557388" "0" "30" "16" "2156184" "2156184" "subst" "2.51465E-5" "01943" "PKD1_001052" "g.2156184G>A" "" "" "" "PKD1(NM_001009944.2):c.7611C>T (p.A2537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106183G>A" "" "likely benign" "" "0000557389" "0" "50" "16" "2156195" "2156195" "subst" "2.48746E-5" "01804" "PKD1_001053" "g.2156195T>C" "" "" "" "PKD1(NM_000296.3):c.7600A>G (p.(Ser2534Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106194T>C" "" "VUS" "" "0000557391" "0" "30" "16" "2156264" "2156264" "subst" "1.25351E-5" "01943" "PKD1_001055" "g.2156264C>T" "" "" "" "PKD1(NM_001009944.2):c.7531G>A (p.A2511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106263C>T" "" "likely benign" "" "0000557392" "0" "30" "16" "2156315" "2156315" "subst" "0.000569699" "01943" "PKD1_001056" "g.2156315G>A" "" "" "" "PKD1(NM_001009944.2):c.7490-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106314G>A" "" "likely benign" "" "0000557393" "0" "50" "16" "2156402" "2156402" "subst" "0" "01943" "PKD1_001057" "g.2156402T>G" "" "" "" "PKD1(NM_001009944.2):c.7486A>C (p.T2496P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106401T>G" "" "VUS" "" "0000557394" "0" "30" "16" "2156459" "2156459" "subst" "0.00116944" "01943" "PKD1_001058" "g.2156459G>A" "" "" "" "PKD1(NM_000296.3):c.7429C>T (p.(Arg2477Cys)), PKD1(NM_001009944.2):c.7429C>T (p.R2477C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106458G>A" "" "likely benign" "" "0000557396" "0" "50" "16" "2156678" "2156678" "subst" "0.000238581" "01804" "PKD1_001060" "g.2156678G>A" "" "" "" "PKD1(NM_000296.3):c.7210C>T (p.(Arg2404Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106677G>A" "" "VUS" "" "0000557397" "0" "30" "16" "2156786" "2156786" "subst" "0" "01804" "PKD1_001061" "g.2156786A>C" "" "" "" "PKD1(NM_000296.3):c.7209+20delinsG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106785A>C" "" "likely benign" "" "0000557398" "0" "30" "16" "2157965" "2157965" "subst" "2.07627E-5" "01943" "PKD1_001062" "g.2157965C>T" "" "" "" "PKD1(NM_001009944.2):c.6984G>A (p.E2328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2107964C>T" "" "likely benign" "" "0000557399" "0" "30" "16" "2157969" "2157969" "subst" "6.92693E-6" "01943" "PKD1_001063" "g.2157969C>T" "" "" "" "PKD1(NM_001009944.2):c.6980G>A (p.R2327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2107968C>T" "" "likely benign" "" "0000557400" "0" "30" "16" "2157984" "2157984" "subst" "0.000153726" "01804" "PKD1_001064" "g.2157984G>A" "" "" "" "PKD1(NM_000296.3):c.6965C>T (p.(Thr2322Met)), PKD1(NM_001009944.2):c.6965C>T (p.T2322M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2107983G>A" "" "likely benign" "" "0000557402" "0" "30" "16" "2158419" "2158419" "subst" "0.00234517" "02326" "PKD1_000079" "g.2158419G>A" "" "" "" "PKD1(NM_000296.3):c.6749C>T (p.(Thr2250Met)), PKD1(NM_001009944.2):c.6749C>T (p.T2250M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108418G>A" "" "likely benign" "" "0000557403" "0" "90" "16" "2158432" "2158432" "subst" "0" "01804" "PKD1_001066" "g.2158432G>A" "" "" "" "PKD1(NM_000296.3):c.6736C>T (p.(Gln2246Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108431G>A" "" "pathogenic" "" "0000557404" "0" "10" "16" "2158570" "2158570" "subst" "0.0113835" "01804" "PKD1_000235" "g.2158570G>A" "" "" "" "PKD1(NM_000296.3):c.6598C>T (p.(Arg2200Cys)), PKD1(NM_001009944.2):c.6598C>T (p.R2200C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108569G>A" "" "benign" "" "0000557405" "0" "10" "16" "2158570" "2158570" "subst" "0.0113835" "02326" "PKD1_000235" "g.2158570G>A" "" "" "" "PKD1(NM_000296.3):c.6598C>T (p.(Arg2200Cys)), PKD1(NM_001009944.2):c.6598C>T (p.R2200C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108569G>A" "" "benign" "" "0000557406" "0" "50" "16" "2158602" "2158602" "subst" "1.87049E-5" "01804" "PKD1_001067" "g.2158602A>G" "" "" "" "PKD1(NM_000296.3):c.6566T>C (p.(Val2189Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108601A>G" "" "VUS" "" "0000557407" "0" "10" "16" "2158672" "2158672" "subst" "0.00320602" "02325" "PKD1_000297" "g.2158672G>A" "" "" "" "PKD1(NM_000296.3):c.6496C>T (p.(Arg2166Cys)), PKD1(NM_001009944.2):c.6496C>T (p.R2166C), PKD1(NM_001009944.3):c.6496C>T (p.R2166C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108671G>A" "" "benign" "" "0000557408" "0" "30" "16" "2158680" "2158680" "subst" "0.0022994" "01804" "PKD1_000730" "g.2158680C>T" "" "" "" "PKD1(NM_000296.3):c.6488G>A (p.(Arg2163Gln)), PKD1(NM_000296.4):c.6488G>A (p.R2163Q), PKD1(NM_001009944.2):c.6488G>A (p.R2163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108679C>T" "" "likely benign" "" "0000557409" "0" "30" "16" "2158684" "2158684" "subst" "0" "01804" "PKD1_001068" "g.2158684G>A" "" "" "" "PKD1(NM_000296.3):c.6484C>T (p.(Arg2162Trp)), PKD1(NM_001009944.3):c.6484C>T (p.R2162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108683G>A" "" "likely benign" "" "0000557410" "0" "30" "16" "2158773" "2158773" "subst" "0.00031295" "01804" "PKD1_001069" "g.2158773A>C" "" "" "" "PKD1(NM_000296.3):c.6395T>G (p.(Phe2132Cys)), PKD1(NM_001009944.2):c.6395T>G (p.F2132C), PKD1(NM_001009944.3):c.6395T>G (p.F2132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108772A>C" "" "likely benign" "" "0000557411" "0" "30" "16" "2158871" "2158871" "subst" "0.00187878" "01943" "PKD1_001070" "g.2158871C>A" "" "" "" "PKD1(NM_000296.3):c.6297G>T (p.(Gly2099=)), PKD1(NM_001009944.2):c.6297G>T (p.G2099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108870C>A" "" "likely benign" "" "0000557412" "0" "30" "16" "2158991" "2158991" "subst" "0.000133072" "01943" "PKD1_001071" "g.2158991G>A" "" "" "" "PKD1(NM_001009944.2):c.6177C>T (p.D2059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108990G>A" "" "likely benign" "" "0000557413" "0" "30" "16" "2159062" "2159062" "subst" "4.14219E-5" "01943" "PKD1_001072" "g.2159062A>G" "" "" "" "PKD1(NM_001009944.2):c.6106T>C (p.L2036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109061A>G" "" "likely benign" "" "0000557414" "0" "30" "16" "2159077" "2159077" "subst" "0.00026168" "01943" "PKD1_001073" "g.2159077C>T" "" "" "" "PKD1(NM_001009944.2):c.6091G>A (p.V2031M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109076C>T" "" "likely benign" "" "0000557415" "0" "10" "16" "2159090" "2159090" "subst" "0.00193916" "02326" "PKD1_000835" "g.2159090G>A" "" "" "" "PKD1(NM_001009944.2):c.6078C>T (p.V2026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109089G>A" "" "benign" "" "0000557416" "0" "50" "16" "2159338" "2159338" "subst" "0.00018048" "01943" "PKD1_001074" "g.2159338C>T" "" "" "" "PKD1(NM_000296.3):c.5830G>A (p.(Gly1944Arg)), PKD1(NM_001009944.2):c.5830G>A (p.G1944R), PKD1(NM_001009944.3):c.5830G>A (p.G1944R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109337C>T" "" "VUS" "" "0000557417" "0" "70" "16" "2159338" "2159338" "subst" "0.00018048" "02326" "PKD1_001074" "g.2159338C>T" "" "" "" "PKD1(NM_000296.3):c.5830G>A (p.(Gly1944Arg)), PKD1(NM_001009944.2):c.5830G>A (p.G1944R), PKD1(NM_001009944.3):c.5830G>A (p.G1944R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109337C>T" "" "likely pathogenic" "" "0000557418" "0" "10" "16" "2159341" "2159341" "subst" "0.0096911" "01804" "PKD1_001075" "g.2159341C>T" "" "" "" "PKD1(NM_000296.3):c.5827G>A (p.(Val1943Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109340C>T" "" "benign" "" "0000557419" "0" "30" "16" "2159385" "2159385" "subst" "0.000375628" "01804" "PKD1_000649" "g.2159385G>C" "" "" "" "PKD1(NM_000296.3):c.5783C>G (p.(Pro1928Arg)), PKD1(NM_001009944.2):c.5783C>G (p.P1928R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109384G>C" "" "likely benign" "" "0000557420" "0" "30" "16" "2159411" "2159411" "subst" "3.46428E-5" "01943" "PKD1_001076" "g.2159411G>A" "" "" "" "PKD1(NM_001009944.2):c.5757C>T (p.F1919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109410G>A" "" "likely benign" "" "0000557422" "0" "30" "16" "2159507" "2159507" "subst" "5.03132E-5" "01943" "PKD1_000650" "g.2159507G>A" "" "" "" "PKD1(NM_001009944.2):c.5661C>T (p.I1887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109506G>A" "" "likely benign" "" "0000557423" "0" "30" "16" "2159557" "2159557" "subst" "0.00423894" "01804" "PKD1_000838" "g.2159557C>T" "" "" "" "PKD1(NM_000296.3):c.5611G>A (p.(Ala1871Thr)), PKD1(NM_000296.4):c.5611G>A (p.A1871T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109556C>T" "" "likely benign" "" "0000557424" "0" "30" "16" "2159805" "2159805" "subst" "0.000340551" "01943" "PKD1_001077" "g.2159805C>T" "" "" "" "PKD1(NM_001009944.2):c.5363G>A (p.G1788D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109804C>T" "" "likely benign" "" "0000557426" "0" "30" "16" "2160251" "2160251" "subst" "0.00137944" "01943" "PKD1_000736" "g.2160251G>A" "" "" "" "PKD1(NM_000296.3):c.4917C>T (p.(Gly1639=)), PKD1(NM_001009944.2):c.4917C>T (p.G1639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110250G>A" "" "likely benign" "" "0000557428" "0" "10" "16" "2160494" "2160494" "subst" "0.0767881" "02327" "PKD1_000737" "g.2160494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110493C>T" "" "benign" "" "0000557429" "0" "50" "16" "2160514" "2160516" "del" "0" "02327" "PKD1_000844" "g.2160514_2160516del" "" "" "" "PKD1(NM_000296.3):c.4657_4659del (p.(Val1553del)), PKD1(NM_001009944.2):c.4657_4659delGTC (p.V1553del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110513_2110515del" "" "VUS" "" "0000557430" "0" "30" "16" "2160603" "2160603" "subst" "0" "01943" "PKD1_001079" "g.2160603T>G" "" "" "" "PKD1(NM_001009944.2):c.4565A>C (p.D1522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110602T>G" "" "likely benign" "" "0000557431" "0" "30" "16" "2160622" "2160622" "subst" "0.00587533" "01804" "PKD1_000845" "g.2160622C>T" "" "" "" "PKD1(NM_000296.3):c.4546G>A (p.(Ala1516Thr)), PKD1(NM_001009944.2):c.4546G>A (p.A1516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110621C>T" "" "likely benign" "" "0000557432" "0" "50" "16" "2160789" "2160789" "subst" "0" "02327" "PKD1_001080" "g.2160789A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110788A>C" "" "VUS" "" "0000557433" "0" "30" "16" "2160904" "2160904" "subst" "0.00592388" "01804" "PKD1_000662" "g.2160904C>T" "" "" "" "PKD1(NM_000296.3):c.4264G>A (p.(Ala1422Thr)), PKD1(NM_001009944.2):c.4264G>A (p.A1422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110903C>T" "" "likely benign" "" "0000557434" "0" "10" "16" "2160973" "2160973" "subst" "0.0646496" "01804" "PKD1_000741" "g.2160973A>G" "" "" "" "PKD1(NM_000296.3):c.4195delinsC (p.(Trp1399Arg)), PKD1(NM_000296.4):c.4195T>C (p.W1399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110972A>G" "" "benign" "" "0000557435" "0" "30" "16" "2161150" "2161150" "subst" "0.00255814" "01804" "PKD1_000204" "g.2161150G>A" "" "" "" "PKD1(NM_000296.3):c.4018C>T (p.(Arg1340Trp)), PKD1(NM_000296.4):c.4018C>T (p.R1340W), PKD1(NM_001009944.2):c.4018C>T (p.R1340W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111149G>A" "" "likely benign" "" "0000557436" "0" "70" "16" "2161213" "2161213" "subst" "4.1437E-6" "02327" "PKD1_001081" "g.2161213C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111212C>T" "" "likely pathogenic" "" "0000557437" "0" "50" "16" "2161225" "2161225" "subst" "0" "01804" "PKD1_001082" "g.2161225C>G" "" "" "" "PKD1(NM_000296.3):c.3943G>C (p.(Ala1315Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111224C>G" "" "VUS" "" "0000557439" "0" "30" "16" "2161306" "2161306" "subst" "0" "01943" "PKD1_001084" "g.2161306G>A" "" "" "" "PKD1(NM_001009944.2):c.3862C>T (p.H1288Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111305G>A" "" "likely benign" "" "0000557440" "0" "30" "16" "2161489" "2161489" "subst" "0.00065278" "01804" "PKD1_001085" "g.2161489C>A" "" "" "" "PKD1(NM_000296.3):c.3679G>T (p.(Ala1227Ser)), PKD1(NM_001009944.2):c.3679G>T (p.A1227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111488C>A" "" "likely benign" "" "0000557441" "0" "30" "16" "2161550" "2161550" "subst" "0" "01943" "PKD1_001086" "g.2161550C>T" "" "" "" "PKD1(NM_001009944.2):c.3618G>A (p.V1206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111549C>T" "" "likely benign" "" "0000557442" "0" "30" "16" "2161620" "2161620" "subst" "6.06401E-5" "01804" "PKD1_001087" "g.2161620G>A" "" "" "" "PKD1(NM_000296.3):c.3548C>T (p.(Ser1183Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111619G>A" "" "likely benign" "" "0000557443" "0" "30" "16" "2161620" "2161620" "subst" "6.06401E-5" "02327" "PKD1_001087" "g.2161620G>A" "" "" "" "PKD1(NM_000296.3):c.3548C>T (p.(Ser1183Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111619G>A" "" "likely benign" "" "0000557444" "0" "30" "16" "2161666" "2161666" "subst" "0.0142609" "01804" "PKD1_001088" "g.2161666G>A" "" "" "" "PKD1(NM_000296.3):c.3502C>T (p.(Pro1168Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111665G>A" "" "likely benign" "" "0000557446" "0" "30" "16" "2161788" "2161788" "subst" "0.000645004" "01804" "PKD1_000669" "g.2161788G>A" "" "" "" "PKD1(NM_000296.3):c.3380C>T (p.(Pro1127Leu)), PKD1(NM_001009944.2):c.3380C>T (p.P1127L), PKD1(NM_001009944.3):c.3380C>T (p.P1127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111787G>A" "" "likely benign" "" "0000557448" "0" "30" "16" "2161852" "2161852" "subst" "0.00236035" "01804" "PKD1_001090" "g.2161852G>C" "" "" "" "PKD1(NM_000296.3):c.3316C>G (p.(Leu1106Val)), PKD1(NM_001009944.2):c.3316C>G (p.L1106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111851G>C" "" "likely benign" "" "0000557449" "0" "10" "16" "2161887" "2161887" "subst" "0.00293832" "01804" "PKD1_000852" "g.2161887C>T" "" "" "" "PKD1(NM_000296.3):c.3296-15G>A (p.(=)), PKD1(NM_001009944.2):c.3296-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111886C>T" "" "benign" "" "0000557450" "0" "30" "16" "2162453" "2162453" "subst" "0.00146763" "01943" "PKD1_001091" "g.2162453C>T" "" "" "" "PKD1(NM_000296.3):c.3183G>A (p.(Glu1061=)), PKD1(NM_001009944.2):c.3183G>A (p.E1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2112452C>T" "" "likely benign" "" "0000557451" "0" "30" "16" "2162849" "2162849" "subst" "0.00144656" "01804" "PKD1_000853" "g.2162849T>C" "" "" "" "PKD1(NM_000296.4):c.3101A>G (p.N1034S), PKD1(NM_001009944.2):c.3101A>G (p.(Asn1034Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2112848T>C" "" "likely benign" "" "0000557453" "0" "70" "16" "2162930" "2162930" "subst" "1.66468E-5" "01804" "PKD1_001093" "g.2162930A>G" "" "" "" "PKD1(NM_000296.3):c.3020T>C (p.(Val1007Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2112929A>G" "" "likely pathogenic" "" "0000557454" "0" "30" "16" "2162972" "2162972" "subst" "0" "01804" "PKD1_001094" "g.2162972G>C" "" "" "" "PKD1(NM_000296.3):c.2986-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2112971G>C" "" "likely benign" "" "0000557455" "0" "10" "16" "2163298" "2163298" "subst" "0.00855555" "01804" "PKD1_000854" "g.2163298G>A" "" "" "" "PKD1(NM_000296.3):c.2854-5C>T (p.?), PKD1(NM_001009944.2):c.2854-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2113297G>A" "" "benign" "" "0000557457" "0" "30" "16" "2164789" "2164789" "subst" "0.00115064" "01804" "PKD1_001096" "g.2164789G>C" "" "" "" "PKD1(NM_000296.3):c.2235C>G (p.(Ala745=)), PKD1(NM_001009944.2):c.2235C>G (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2114788G>C" "" "likely benign" "" "0000557459" "0" "30" "16" "2164832" "2164832" "subst" "0.000268148" "01943" "PKD1_001097" "g.2164832G>A" "" "" "" "PKD1(NM_001009944.2):c.2192C>T (p.P731L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2114831G>A" "" "likely benign" "" "0000557460" "0" "30" "16" "2165395" "2165395" "subst" "0" "01804" "PKD1_001098" "g.2165395G>A" "" "" "" "PKD1(NM_000296.3):c.2081C>T (p.(Pro694Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115394G>A" "" "likely benign" "" "0000557461" "0" "50" "16" "2165401" "2165401" "subst" "1.30478E-5" "01804" "PKD1_001099" "g.2165401G>A" "" "" "" "PKD1(NM_000296.3):c.2075C>T (p.(Ala692Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115400G>A" "" "VUS" "" "0000557462" "0" "10" "16" "2165437" "2165437" "subst" "0.000937914" "01943" "PKD1_001100" "g.2165437T>A" "" "" "" "PKD1(NM_001009944.2):c.2039A>T (p.Y680F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115436T>A" "" "benign" "" "0000557463" "0" "30" "16" "2165566" "2165566" "subst" "0" "01804" "PKD1_001101" "g.2165566G>A" "" "" "" "PKD1(NM_000296.3):c.1910C>T (p.(Ala637Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115565G>A" "" "likely benign" "" "0000557464" "0" "30" "16" "2165571" "2165571" "subst" "0" "01943" "PKD1_001102" "g.2165571C>G" "" "" "" "PKD1(NM_001009944.2):c.1905G>C (p.Q635H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115570C>G" "" "likely benign" "" "0000557465" "0" "30" "16" "2165976" "2165976" "subst" "0" "01804" "PKD1_001103" "g.2165976A>C" "" "" "" "PKD1(NM_000296.3):c.1849+17T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115975A>C" "" "likely benign" "" "0000557466" "0" "10" "16" "2166538" "2166538" "subst" "0.00752623" "01804" "PKD1_001104" "g.2166538G>A" "" "" "" "PKD1(NM_000296.3):c.1714C>T (p.(Pro572Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2116537G>A" "" "benign" "" "0000557467" "0" "50" "16" "2167044" "2167044" "subst" "0" "01804" "PKD1_001105" "g.2167044C>T" "" "" "" "PKD1(NM_000296.3):c.1396G>A (p.(Val466Met)), PKD1(NM_001009944.2):c.1396G>A (p.V466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2117043C>T" "" "VUS" "" "0000557469" "0" "30" "16" "2167594" "2167594" "subst" "0.00112731" "01943" "PKD1_001107" "g.2167594C>T" "" "" "" "PKD1(NM_001009944.2):c.1281G>A (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2117593C>T" "" "likely benign" "" "0000557472" "0" "30" "16" "2168022" "2168022" "subst" "0.00256961" "02326" "PKD1_000054" "g.2168022C>A" "" "" "" "PKD1(NM_000296.3):c.971G>T (p.(Arg324Leu)), PKD1(NM_001009944.2):c.971G>T (p.R324L), PKD1(NM_001009944.3):c.971G>T (p.R324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118021C>A" "" "likely benign" "" "0000557475" "0" "30" "16" "2168390" "2168390" "subst" "0.000356766" "01804" "PKD1_001111" "g.2168390G>C" "" "" "" "PKD1(NM_000296.3):c.603C>G (p.(His201Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118389G>C" "" "likely benign" "" "0000557476" "0" "30" "16" "2168413" "2168413" "subst" "0.00113754" "01804" "PKD1_000698" "g.2168413C>T" "" "" "" "PKD1(NM_000296.3):c.580G>A (p.(Ala194Thr)), PKD1(NM_001009944.2):c.580G>A (p.A194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118412C>T" "" "likely benign" "" "0000557477" "0" "10" "16" "2168783" "2168783" "subst" "0.000539862" "02326" "PKD1_001112" "g.2168783C>T" "" "" "" "PKD1(NM_001009944.2):c.423G>A (p.E141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118782C>T" "" "benign" "" "0000557487" "0" "30" "16" "2185584" "2185584" "subst" "0" "01804" "PKD1_001113" "g.2185584G>T" "" "" "" "PKD1(NM_000296.3):c.107C>A (p.(Pro36His)), PKD1(NM_001009944.2):c.107C>A (p.P36H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2135583G>T" "" "likely benign" "" "0000597001" "0" "70" "16" "2140349" "2140349" "subst" "0" "03416" "PKD1_000023" "g.2140349G>C" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2090348G>C" "" "likely pathogenic" "" "0000615822" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "01943" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046238G>A" "" "pathogenic" "" "0000615824" "0" "50" "16" "2103398" "2103398" "subst" "0" "01943" "TSC2_001450" "g.2103398C>T" "" "" "" "TSC2(NM_001114382.2):c.281C>T (p.P94L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053397C>T" "" "VUS" "" "0000615825" "0" "30" "16" "2103467" "2103467" "subst" "0" "02330" "TSC2_001452" "g.2103467C>T" "" "" "" "TSC2(NM_000548.5):c.336+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053466C>T" "" "likely benign" "" "0000615827" "0" "30" "16" "2121637" "2121637" "subst" "0.000213151" "02330" "TSC2_002512" "g.2121637C>T" "" "" "" "TSC2(NM_000548.5):c.1946+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071636C>T" "" "likely benign" "" "0000615828" "0" "10" "16" "2121911" "2121911" "subst" "0.000938692" "02330" "TSC2_000435" "g.2121911C>T" "" "" "" "TSC2(NM_000548.3):c.2073C>T (p.R691=), TSC2(NM_000548.5):c.2073C>T (p.R691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2071910C>T" "" "benign" "" "0000615829" "0" "30" "16" "2129102" "2129102" "subst" "0.000130161" "02330" "TSC2_001209" "g.2129102C>T" "" "" "" "TSC2(NM_000548.3):c.3036C>T (p.D1012=), TSC2(NM_000548.5):c.3036C>T (p.D1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079101C>T" "" "likely benign" "" "0000615830" "0" "30" "16" "2129539" "2129539" "subst" "4.77418E-5" "02330" "TSC2_000761" "g.2129539C>T" "" "" "" "TSC2(NM_000548.5):c.3285-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079538C>T" "" "likely benign" "" "0000615831" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "02327" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084491G>A" "" "likely benign" "" "0000615832" "0" "30" "16" "2134657" "2134657" "subst" "2.56051E-5" "02330" "TSC2_001482" "g.2134657C>T" "" "" "" "TSC2(NM_000548.5):c.4434C>T (p.D1478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084656C>T" "" "likely benign" "" "0000615833" "0" "30" "16" "2134723" "2134723" "subst" "0.000180369" "01943" "TSC2_002894" "g.2134723C>A" "" "" "" "TSC2(NM_000548.3):c.4493+7C>A, TSC2(NM_000548.5):c.4493+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084722C>A" "" "likely benign" "" "0000615834" "0" "90" "16" "2136373" "2136375" "del" "0" "02325" "TSC2_000118" "g.2136373_2136375del" "" "" "" "TSC2(NM_000548.3):c.4842_4844delCAT (p.I1614del), TSC2(NM_001114382.3):c.4773_4775delCAT (p.I1591del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086372_2086374del" "" "pathogenic" "" "0000615835" "0" "30" "16" "2136809" "2136809" "subst" "4.11997E-6" "01943" "TSC2_001484" "g.2136809C>T" "" "" "" "TSC2(NM_001114382.2):c.4857C>T (p.G1619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086808C>T" "" "likely benign" "" "0000615836" "0" "30" "16" "2136839" "2136839" "subst" "0" "01943" "TSC2_001485" "g.2136839C>T" "" "" "" "TSC2(NM_000548.3):c.4956C>T (p.D1652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2086838C>T" "" "likely benign" "" "0000615837" "0" "30" "16" "2140477" "2140477" "subst" "0.000362854" "01943" "PKD1_002898" "g.2140477G>A" "" "" "" "PKD1(NM_001009944.2):c.12253C>T (p.L4085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090476G>A" "" "likely benign" "" "0000615838" "0" "50" "16" "2140811" "2140812" "dup" "0" "01943" "PKD1_002893" "g.2140811_2140812dup" "" "" "" "PKD1(NM_001009944.2):c.12004-2_12004-1insCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2090810_2090811dup" "" "VUS" "" "0000615839" "0" "10" "16" "2141454" "2141454" "subst" "0.017369" "01804" "PKD1_000766" "g.2141454G>A" "" "" "" "PKD1(NM_000296.3):c.11679C>T (p.(Ser3893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091453G>A" "" "benign" "" "0000615840" "0" "50" "16" "2143577" "2143577" "subst" "2.57314E-5" "01943" "PKD1_002877" "g.2143577G>A" "" "" "" "PKD1(NM_001009944.2):c.10984C>T (p.R3662C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093576G>A" "" "VUS" "" "0000615841" "0" "50" "16" "2143621" "2143621" "subst" "0" "01943" "PKD1_002876" "g.2143621C>T" "" "" "" "PKD1(NM_001009944.2):c.10940G>A (p.R3647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093620C>T" "" "VUS" "" "0000615842" "0" "30" "16" "2143622" "2143622" "subst" "0.000207657" "01804" "PKD1_002875" "g.2143622G>A" "" "" "" "PKD1(NM_000296.3):c.10936C>T (p.(Arg3646Trp)), PKD1(NM_001009944.2):c.10939C>T (p.R3647W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2093621G>A" "" "likely benign" "" "0000615843" "0" "90" "16" "2147205" "2147205" "dup" "0" "02327" "PKD1_001114" "g.2147205dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097204dup" "" "pathogenic" "" "0000615844" "0" "30" "16" "2149901" "2149901" "subst" "4.39522E-5" "01943" "PKD1_001116" "g.2149901T>C" "" "" "" "PKD1(NM_000296.3):c.9884A>G (p.(Asn3295Ser)), PKD1(NM_001009944.2):c.9884A>G (p.N3295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2099900T>C" "" "likely benign" "" "0000615845" "0" "30" "16" "2153345" "2153345" "subst" "0.00163641" "01943" "PKD1_001117" "g.2153345C>T" "" "" "" "PKD1(NM_000296.3):c.8713G>A (p.(Val2905Ile)), PKD1(NM_001009944.2):c.8713G>A (p.V2905I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103344C>T" "" "likely benign" "" "0000615846" "0" "30" "16" "2153599" "2153599" "subst" "3.27273E-5" "01804" "PKD1_001118" "g.2153599C>A" "" "" "" "PKD1(NM_000296.3):c.8459G>T (p.(Ser2820Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103598C>A" "" "likely benign" "" "0000615847" "0" "10" "16" "2153619" "2153619" "subst" "0.0047702" "01804" "PKD1_001119" "g.2153619G>A" "" "" "" "PKD1(NM_000296.3):c.8439C>T (p.(Ser2813=)), PKD1(NM_001009944.2):c.8439C>T (p.S2813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103618G>A" "" "benign" "" "0000615848" "0" "30" "16" "2153785" "2153785" "subst" "5.3242E-5" "01943" "PKD1_001120" "g.2153785G>A" "" "" "" "PKD1(NM_001009944.2):c.8273C>T (p.A2758V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2103784G>A" "" "likely benign" "" "0000615849" "0" "30" "16" "2154549" "2154549" "subst" "0.00142352" "01943" "PKD1_000588" "g.2154549G>A" "" "" "" "PKD1(NM_000296.3):c.8111C>T (p.(Ala2704Val)), PKD1(NM_001009944.2):c.8111C>T (p.A2704V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2104548G>A" "" "likely benign" "" "0000615850" "0" "30" "16" "2158672" "2158672" "subst" "0.00320602" "01943" "PKD1_000297" "g.2158672G>A" "" "" "" "PKD1(NM_000296.3):c.6496C>T (p.(Arg2166Cys)), PKD1(NM_001009944.2):c.6496C>T (p.R2166C), PKD1(NM_001009944.3):c.6496C>T (p.R2166C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108671G>A" "" "likely benign" "" "0000615851" "0" "30" "16" "2158680" "2158680" "subst" "0.0022994" "01943" "PKD1_000730" "g.2158680C>T" "" "" "" "PKD1(NM_000296.3):c.6488G>A (p.(Arg2163Gln)), PKD1(NM_000296.4):c.6488G>A (p.R2163Q), PKD1(NM_001009944.2):c.6488G>A (p.R2163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108679C>T" "" "likely benign" "" "0000615852" "0" "50" "16" "2159568" "2159568" "subst" "7.84877E-5" "01943" "PKD1_001124" "g.2159568T>C" "" "" "" "PKD1(NM_001009944.2):c.5600A>G (p.N1867S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109567T>C" "" "VUS" "" "0000615853" "0" "30" "16" "2159591" "2159591" "subst" "0.000324729" "01943" "PKD1_001125" "g.2159591A>G" "" "" "" "PKD1(NM_000296.3):c.5577T>C (p.(Ala1859=)), PKD1(NM_001009944.2):c.5577T>C (p.A1859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109590A>G" "" "likely benign" "" "0000615854" "0" "30" "16" "2160098" "2160098" "subst" "0.000129277" "01943" "PKD1_001126" "g.2160098G>A" "" "" "" "PKD1(NM_000296.3):c.5070C>T (p.(Ala1690=)), PKD1(NM_001009944.2):c.5070C>T (p.A1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110097G>A" "" "likely benign" "" "0000615855" "0" "30" "16" "2160644" "2160644" "subst" "0.000273984" "01943" "PKD1_001128" "g.2160644G>A" "" "" "" "PKD1(NM_001009944.2):c.4524C>T (p.L1508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110643G>A" "" "likely benign" "" "0000615856" "0" "10" "16" "2160673" "2160673" "subst" "0.00265265" "01943" "PKD1_000846" "g.2160673G>A" "" "" "" "PKD1(NM_000296.3):c.4495C>T (p.(Leu1499=)), PKD1(NM_001009944.2):c.4495C>T (p.L1499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110672G>A" "" "benign" "" "0000615857" "0" "30" "16" "2161572" "2161572" "subst" "5.63406E-6" "01943" "PKD1_001131" "g.2161572C>G" "" "" "" "PKD1(NM_001009944.2):c.3596G>C (p.G1199A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111571C>G" "" "likely benign" "" "0000615858" "0" "30" "16" "2161666" "2161666" "subst" "2.82393E-5" "01943" "PKD1_001132" "g.2161666G>C" "" "" "" "PKD1(NM_001009944.2):c.3502C>G (p.P1168A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111665G>C" "" "likely benign" "" "0000615859" "0" "10" "16" "2164330" "2164330" "subst" "0.0129262" "01804" "PKD1_000752" "g.2164330T>G" "" "" "" "PKD1(NM_000296.3):c.2694A>C (p.(Ala898=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2114329T>G" "" "benign" "" "0000615860" "0" "30" "16" "2164922" "2164922" "subst" "0" "01804" "PKD1_001133" "g.2164922G>T" "" "" "" "PKD1(NM_000296.3):c.2102C>A (p.(Thr701Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2114921G>T" "" "likely benign" "" "0000615861" "0" "30" "16" "2165979" "2165979" "subst" "0" "01804" "PKD1_001134" "g.2165979A>C" "" "" "" "PKD1(NM_000296.3):c.1849+14T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2115978A>C" "" "likely benign" "" "0000615862" "0" "70" "16" "2166527" "2166527" "subst" "0" "01804" "PKD1_001135" "g.2166527T>G" "" "" "" "PKD1(NM_001009944.2):c.1722+3A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2116526T>G" "" "likely pathogenic" "" "0000615863" "0" "30" "16" "2168122" "2168122" "subst" "0.000363098" "01943" "PKD1_001137" "g.2168122C>A" "" "" "" "PKD1(NM_001009944.2):c.871G>T (p.A291S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118121C>A" "" "likely benign" "" "0000615864" "0" "30" "16" "2168703" "2168703" "subst" "0" "01804" "PKD1_001138" "g.2168703C>G" "" "" "" "PKD1(NM_000296.3):c.503G>C (p.(Gly168Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118702C>G" "" "likely benign" "" "0000623394" "0" "30" "16" "2093670" "2093670" "subst" "1.63451E-5" "02330" "NTHL1_000189" "g.2093670C>T" "" "" "" "NTHL1(NM_002528.7):c.583G>A (p.D195N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2043669C>T" "" "likely benign" "" "0000623395" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02329" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2046238G>A" "" "pathogenic" "" "0000623398" "0" "30" "16" "2110790" "2110790" "subst" "1.62692E-5" "02330" "TSC2_003286" "g.2110790C>T" "" "" "" "TSC2(NM_001370404.1):c.1095C>T (p.I365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060789C>T" "" "likely benign" "" "0000623399" "0" "10" "16" "2112989" "2112989" "subst" "0.00121899" "02329" "TSC2_001096" "g.2112989G>A" "" "" "" "TSC2(NM_000548.3):c.1378G>A (p.A460T), TSC2(NM_000548.5):c.1378G>A (p.A460T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062988G>A" "" "benign" "" "0000623400" "0" "30" "16" "2114422" "2114422" "subst" "0.00101201" "02329" "TSC2_000222" "g.2114422C>T" "" "" "" "TSC2(NM_000548.3):c.1593C>T (p.I531=), TSC2(NM_000548.5):c.1593C>T (p.I531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2064421C>T" "" "likely benign" "" "0000623401" "0" "30" "16" "2120559" "2120559" "subst" "0.000651238" "02325" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2070558G>A" "" "likely benign" "" "0000623402" "0" "30" "16" "2125839" "2125839" "subst" "4.06868E-5" "02330" "TSC2_000675" "g.2125839C>T" "" "" "" "TSC2(NM_000548.5):c.2585C>T (p.A862V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2075838C>T" "" "likely benign" "" "0000623403" "0" "50" "16" "2126489" "2126489" "subst" "0.000268402" "01943" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2076488C>A" "" "VUS" "" "0000623405" "0" "30" "16" "2134301" "2134301" "subst" "2.46607E-5" "02330" "TSC2_001479" "g.2134301G>A" "" "" "" "TSC2(NM_000548.5):c.4078G>A (p.E1360K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2084300G>A" "" "likely benign" "" "0000623406" "0" "30" "16" "2147914" "2147914" "subst" "2.58688E-5" "01943" "PKD1_001115" "g.2147914G>A" "" "" "" "PKD1(NM_001009944.2):c.10122C>T (p.S3374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2097913G>A" "" "likely benign" "" "0000623408" "0" "30" "16" "2155908" "2155908" "subst" "0.000100517" "01943" "PKD1_001121" "g.2155908G>A" "" "" "" "PKD1(NM_001009944.2):c.7821C>T (p.H2607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2105907G>A" "" "likely benign" "" "0000623409" "0" "30" "16" "2156252" "2156252" "subst" "2.07343E-5" "01943" "PKD1_001054" "g.2156252G>A" "" "" "" "PKD1(NM_001009944.2):c.7543C>T (p.R2515W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106251G>A" "" "likely benign" "" "0000623410" "0" "30" "16" "2156425" "2156425" "subst" "0.000463563" "01943" "PKD1_000613" "g.2156425G>A" "" "" "" "PKD1(NM_001009944.2):c.7463C>T (p.T2488I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2106424G>A" "" "likely benign" "" "0000623411" "0" "50" "16" "2158548" "2158548" "subst" "4.36491E-6" "01943" "PKD1_001122" "g.2158548G>A" "" "" "" "PKD1(NM_000296.3):c.6620C>T (p.(Pro2207Leu)), PKD1(NM_001009944.2):c.6620C>T (p.P2207L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108547G>A" "" "VUS" "" "0000623412" "0" "30" "16" "2159410" "2159410" "subst" "7.36109E-5" "01943" "PKD1_001123" "g.2159410G>A" "" "" "" "PKD1(NM_000296.3):c.5758C>T (p.(Arg1920Cys)), PKD1(NM_001009944.2):c.5758C>T (p.R1920C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2109409G>A" "" "likely benign" "" "0000623413" "0" "30" "16" "2160627" "2160627" "subst" "4.09068E-5" "01943" "PKD1_001127" "g.2160627G>C" "" "" "" "PKD1(NM_001009944.2):c.4541C>G (p.T1514S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110626G>C" "" "likely benign" "" "0000623414" "0" "30" "16" "2160682" "2160682" "subst" "7.84301E-5" "01943" "PKD1_001129" "g.2160682C>T" "" "" "" "PKD1(NM_001009944.2):c.4486G>A (p.A1496T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110681C>T" "" "likely benign" "" "0000623415" "0" "30" "16" "2160716" "2160716" "subst" "6.14198E-5" "01943" "PKD1_001130" "g.2160716C>A" "" "" "" "PKD1(NM_001009944.2):c.4452G>T (p.P1484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2110715C>A" "" "likely benign" "" "0000623416" "0" "30" "16" "2166545" "2166545" "subst" "0" "01943" "PKD1_001136" "g.2166545C>T" "" "" "" "PKD1(NM_001009944.2):c.1707G>A (p.P569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2116544C>T" "" "likely benign" "" "0000638690" "21" "10" "16" "2142121" "2142121" "subst" "4.07904E-6" "00006" "PKD1_000918" "g.2142121C>T" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "" "" "Germline" "" "" "0" "" "" "g.2092120C>T" "" "benign" "" "0000638691" "11" "70" "16" "2161396" "2161396" "subst" "8.37479E-6" "00006" "PKD1_000919" "g.2161396C>T" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "" "" "Germline" "" "" "0" "" "" "g.2111395C>T" "" "VUS" "" "0000649274" "1" "10" "16" "2140843" "2140843" "subst" "0.0207999" "03575" "PKD1_000920" "g.2140843G>T" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs117865497}" "Germline" "" "rs117865497" "0" "" "" "g.2090842G>T" "" "benign" "" "0000649275" "1" "50" "16" "2153765" "2153765" "subst" "0.00456926" "03575" "PKD1_000442" "g.2153765G>A" "5/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs144979397}" "Germline" "" "rs144979397" "0" "" "" "g.2103764G>A" "" "VUS" "" "0000649276" "1" "30" "16" "2159317" "2159317" "subst" "1.32862E-5" "03575" "PKD1_000921" "g.2159317G>A" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs191717700}" "Germline" "" "rs191717700" "0" "" "" "g.2109316G>A" "" "likely benign" "" "0000657767" "0" "30" "16" "2094722" "2094722" "subst" "2.48363E-5" "02330" "NTHL1_000208" "g.2094722C>T" "" "" "" "NTHL1(NM_002528.7):c.434G>A (p.R145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2044721C>T" "" "likely benign" "" "0000657769" "0" "10" "16" "2098091" "2098111" "del" "0" "01943" "TSC2_003385" "g.2098091_2098111del" "" "" "" "TSC2(NM_000548.3):c.-30+3_-30+23del (p.(=)), TSC2(NM_001114382.2):c.-30+25_-30+45delAGTGGCGGTCCCCACGGGGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2048090_2048110del" "" "benign" "" "0000657770" "0" "10" "16" "2103389" "2103389" "subst" "0.000903667" "02330" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2053388C>T" "" "benign" "" "0000657771" "0" "50" "16" "2108820" "2108820" "subst" "0" "02325" "TSC2_001299" "g.2108820C>G" "" "" "" "TSC2(NM_001114382.3):c.921C>G (p.H307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2058819C>G" "" "VUS" "" "0000657772" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "02330" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2060764C>T" "" "likely benign" "" "0000657773" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "02329" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062557G>A" "" "likely benign" "" "0000657774" "0" "30" "16" "2112580" "2112580" "subst" "5.0293E-5" "02330" "TSC2_000394" "g.2112580C>T" "" "" "" "TSC2(NM_000548.3):c.1340C>T (p.A447V), TSC2(NM_000548.5):c.1340C>T (p.A447V), TSC2(NM_001114382.2):c.1340C>T (p.A447V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2062579C>T" "" "likely benign" "" "0000657775" "0" "50" "16" "2126088" "2126088" "subst" "0" "02327" "TSC2_001491" "g.2126088T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2076087T>C" "" "VUS" "" "0000657776" "0" "30" "16" "2129096" "2129096" "subst" "3.66068E-5" "02330" "TSC2_003163" "g.2129096G>A" "" "" "" "TSC2(NM_000548.5):c.3030G>A (p.Q1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2079095G>A" "" "likely benign" "" "0000657777" "0" "10" "16" "2130243" "2130243" "subst" "0.000383095" "02330" "TSC2_000762" "g.2130243C>T" "" "" "" "TSC2(NM_000548.5):c.3475C>T (p.R1159W), TSC2(NM_001114382.2):c.3475C>T (p.R1159W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2080242C>T" "" "benign" "" "0000657778" "0" "50" "16" "2131648" "2131648" "subst" "8.14034E-6" "02325" "TSC2_001016" "g.2131648G>A" "" "" "" "TSC2(NM_001114382.3):c.3663G>A (p.S1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2081647G>A" "" "VUS" "" "0000657779" "0" "30" "16" "2137951" "2137951" "subst" "0.000138637" "02330" "TSC2_000638" "g.2137951G>A" "" "" "" "TSC2(NM_000548.3):c.5068+9G>A, TSC2(NM_000548.5):c.5068+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2087950G>A" "" "likely benign" "" "0000657780" "0" "30" "16" "2138224" "2138224" "subst" "3.25267E-5" "02330" "TSC2_000656" "g.2138224C>G" "" "" "" "TSC2(NM_000548.5):c.5161-4C>G, TSC2(NM_001114382.2):c.5092-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2088223C>G" "" "likely benign" "" "0000657781" "0" "30" "16" "2138335" "2138335" "subst" "2.85486E-5" "01943" "TSC2_001490" "g.2138335T>C" "" "" "" "TSC2(NM_000548.3):c.5259+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2088334T>C" "" "likely benign" "" "0000657782" "0" "30" "16" "2141609" "2141609" "subst" "0.00151542" "02326" "PKD1_002886" "g.2141609G>A" "" "" "" "PKD1(NM_000296.3):c.11535-11C>T (p.(=)), PKD1(NM_001009944.2):c.11538-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2091608G>A" "" "likely benign" "" "0000657783" "0" "30" "16" "2158871" "2158871" "subst" "0.00187878" "02326" "PKD1_001070" "g.2158871C>A" "" "" "" "PKD1(NM_000296.3):c.6297G>T (p.(Gly2099=)), PKD1(NM_001009944.2):c.6297G>T (p.G2099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2108870C>A" "" "likely benign" "" "0000657784" "0" "30" "16" "2161430" "2161430" "subst" "0" "01943" "PKD1_001144" "g.2161430G>A" "" "" "" "PKD1(NM_001009944.2):c.3738C>T (p.D1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2111429G>A" "" "likely benign" "" "0000657785" "0" "30" "16" "2168340" "2168340" "subst" "0" "01943" "PKD1_001145" "g.2168340C>T" "" "" "" "PKD1(NM_001009944.2):c.653G>A (p.G218D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2118339C>T" "" "likely benign" "" "0000660207" "0" "50" "16" "2185509" "2185509" "subst" "0" "00006" "PKD1_000760" "g.2185509G>A" "" "{PMID:Waldrop 2019:30792735}" "" "" "" "Germline" "" "" "0" "" "" "g.2135508G>A" "" "VUS" "" "0000667208" "1" "70" "16" "2156460" "2156460" "subst" "0" "03601" "PKD1_000925" "g.2156460G>C" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.2106459G>C" "" "likely pathogenic (dominant)" "ACMG" "0000667218" "1" "90" "16" "2140018" "2140045" "del" "0" "03601" "PKD1_000922" "g.2140018_2140045del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "12604_12631delGGCCGGCTGGGGACAAGGTGTGAGCCTG" "" "Germline" "" "" "0" "" "" "g.2090017_2090044del" "" "pathogenic (dominant)" "ACMG" "0000667219" "1" "90" "16" "2160153" "2160154" "del" "0" "03601" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "5014_5015delAG" "" "Germline" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "ACMG" "0000667228" "1" "90" "16" "2158905" "2158905" "dup" "0" "03601" "PKD1_000927" "g.2158905dup" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "6264dupG" "" "Germline" "" "" "0" "" "" "g.2108904dup" "" "pathogenic (dominant)" "ACMG" "0000667229" "1" "90" "16" "2140429" "2140429" "del" "0" "03601" "PKD1_000923" "g.2140429del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "12301delC" "" "Germline" "" "" "0" "" "" "g.2090428del" "" "pathogenic (dominant)" "ACMG" "0000667230" "1" "90" "16" "2140018" "2140045" "del" "0" "03601" "PKD1_000922" "g.2140018_2140045del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "12604_12631delGGCCGGCTGGGGACAAGGTGTGAGCCTG" "" "Germline" "" "" "0" "" "" "g.2090017_2090044del" "" "pathogenic (dominant)" "ACMG" "0000667231" "1" "90" "16" "2152119" "2152119" "subst" "0" "03601" "PKD1_000924" "g.2152119G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.2102118G>A" "" "pathogenic (dominant)" "ACMG" "0000667235" "0" "90" "16" "2156472" "2156472" "dup" "0" "03601" "PKD1_000926" "g.2156472dup" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "7421dupG" "" "De novo" "" "" "0" "" "" "g.2106471dup" "" "pathogenic (dominant)" "ACMG" "0000667236" "1" "90" "16" "2164313" "2164314" "del" "0" "03601" "PKD1_000928" "g.2164313_2164314del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "2711_2712delAG" "" "Germline" "" "" "0" "" "" "g.2114312_2114313del" "" "pathogenic (dominant)" "ACMG" "0000667238" "1" "90" "16" "2158905" "2158905" "dup" "0" "03601" "PKD1_000927" "g.2158905dup" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "6264dupG" "" "Germline" "" "" "0" "" "" "g.2108904dup" "" "pathogenic (dominant)" "ACMG" "0000667556" "0" "90" "16" "2156249" "2156249" "subst" "0" "00006" "PKD1_000292" "g.2156249G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "possible de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106248G>A" "" "pathogenic (dominant)" "ACMG" "0000671211" "0" "90" "16" "2158252" "2185691" "del" "0" "00006" "PKD1_000939" "g.(2158034_2158252)_(2185691_?)del" "" "{PKDdb:PKD1;5%27(E4F1)-EX15del150kb*;468}" "" "1_6915del 150kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2108033_2108251)_(2135690_?)del" "" "pathogenic (dominant)" "" "0000671212" "0" "90" "16" "2155322" "2185691" "del" "0" "00006" "PKD1_000938" "g.(2154644_2155322)_(2185691_?)del" "" "{PKDdb:PKD1;5%27(RAB26)-EX21del65kb*;469}" "" "1_8015del 65kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2104643_2105321)_(2135690_?)del" "" "pathogenic (dominant)" "" "0000671213" "0" "90" "16" "2185475" "2185899" "del" "0" "00006" "PKD1_000929" "g.(2169380_2185475)_(2185899_?)del" "" "{PKDdb:PKD1;5%27_IVS1del2.5kb;470}" "" "IVS1del 2.5kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2119379_2135474)_(2135898_?)del" "" "pathogenic (dominant)" "" "0000671214" "0" "30" "16" "2185807" "2185807" "subst" "0" "00006" "PKD1_002849" "g.2185807C>A" "" "{PKDdb:PKD1;-117G%3ET;110}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135806C>A" "" "likely benign" "" "0000671215" "0" "30" "16" "2185798" "2185798" "subst" "0" "00006" "PKD1_002848" "g.2185798G>A" "" "{PKDdb:PKD1;-108C%3ET;56}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135797G>A" "" "likely benign" "" "0000671216" "0" "30" "16" "2185766" "2185766" "subst" "0" "00006" "PKD1_002847" "g.2185766C>G" "" "{PKDdb:PKD1;-76G%3EC;634}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135765C>G" "" "likely benign" "" "0000671217" "0" "30" "16" "2185757" "2185757" "subst" "0" "00006" "PKD1_002846" "g.2185757G>A" "" "{PKDdb:PKD1;-67C%3ET;575}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135756G>A" "" "likely benign" "" "0000671218" "0" "30" "16" "2185751" "2185751" "subst" "0" "00006" "PKD1_002845" "g.2185751A>G" "" "{PKDdb:PKD1;-61T%3EC;531}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135750A>G" "" "likely benign" "" "0000671219" "0" "30" "16" "2185742" "2185742" "subst" "0" "00006" "PKD1_002844" "g.2185742G>A" "" "{PKDdb:PKD1;-52C%3ET;485}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135741G>A" "" "likely benign" "" "0000671220" "0" "30" "16" "2185692" "2185692" "subst" "0" "00006" "PKD1_002843" "g.2185692G>A" "" "{PKDdb:PKD1;-1_M1insM;7}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135691G>A" "" "likely benign" "" "0000671221" "0" "90" "16" "0" "0" "" "" "00006" "PKD1_001436" "g.(2142190_2142480)_(2185899del_?)del)del" "" "{PKDdb:PKD1;EX1-EX39del;2506}" "" "EX1-EX39del" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2092189_2092479)_(2135898_?)del" "" "pathogenic (dominant)" "" "0000671222" "0" "90" "16" "2185475" "2185899" "del" "0" "00006" "PKD1_000929" "g.(2169380_2185475)_(2185899_?)del" "" "{PKDdb:PKD1;EX1del;2601}" "" "EX1del" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2119379_2135474)_(2135898_?)del" "" "pathogenic (dominant)" "" "0000671223" "0" "50" "16" "2185683" "2185683" "subst" "0" "00006" "PKD1_002842" "g.2185683G>C" "" "{PKDdb:PKD1;P3R;1616}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135682G>C" "" "VUS" "" "0000671224" "0" "90" "16" "2185675" "2185687" "del" "0" "00006" "PKD1_000148" "g.2185675_2185687del" "" "{PKDdb:PKD1;13_25del13;202}" "" "13_25del13" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135674_2135686del" "" "pathogenic (dominant)" "" "0000671225" "0" "90" "16" "2185665" "2185668" "del" "0" "00006" "PKD1_000532" "g.2185665_2185668del" "" "{PKDdb:PKD1;24_27del4;309}" "" "24_27del4" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135664_2135667del" "" "pathogenic (dominant)" "" "0000671226" "0" "90" "16" "2185651" "2185668" "del" "0" "00006" "PKD1_000416" "g.2185651_2185668del" "" "{PKDdb:PKD1;A10_L15del6;764}" "" "A10_L15del6" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135650_2135667del" "" "pathogenic (dominant)" "" "0000671227" "0" "70" "16" "2185653" "2185653" "subst" "0" "00006" "PKD1_000147" "g.2185653A>T" "" "{PKDdb:PKD1;L13Q;1467}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135652A>T" "" "likely pathogenic (dominant)" "" "0000671228" "0" "70" "16" "2185650" "2185655" "del" "0" "00006" "PKD1_002841" "g.2185650_2185655del" "" "{PKDdb:PKD1;G16_L17del2;1012}" "" "46_51delGGCCTG" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135649_2135654del" "" "likely pathogenic (dominant)" "" "0000671229" "0" "90" "16" "2185621" "2185633" "del" "0" "00006" "PKD1_002839" "g.2185621_2185633del" "" "{PKDdb:PKD1;63_75del13;540}" "" "63_75del13" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135620_2135632del" "" "pathogenic (dominant)" "" "0000671230" "0" "90" "16" "2185622" "2185622" "del" "0" "00006" "PKD1_000501" "g.2185622del" "" "{PKDdb:PKD1;74delG;620}" "" "74delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135621del" "" "pathogenic (dominant)" "" "0000671231" "0" "90" "16" "2185616" "2185617" "delins" "0" "00006" "PKD1_000208" "g.2185616_2185617delinsT" "" "{PKDdb:PKD1;74_75delGCinsA;609}" "" "74_75delGCinsA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135615_2135616delinsT" "" "pathogenic (dominant)" "" "0000671232" "0" "50" "16" "2185617" "2185617" "subst" "0" "00006" "PKD1_002840" "g.2185617C>A" "" "{PKDdb:PKD1;G25V;1030}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135616C>A" "" "VUS" "" "0000671233" "0" "30" "16" "2185609" "2185609" "subst" "0" "00006" "PKD1_002838" "g.2185609G>A" "" "{PKDdb:PKD1;R28C;1823}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135608G>A" "" "likely benign" "" "0000671234" "0" "70" "16" "2185590" "2185598" "del" "0" "00006" "PKD1_002836" "g.2185590_2185598del" "" "{PKDdb:PKD1;C33_P35del3;869}" "" "97_105delTGCGAGCCC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135589_2135597del" "" "likely pathogenic (dominant)" "" "0000671235" "0" "90" "16" "2185592" "2185592" "del" "0" "00006" "PKD1_000415" "g.2185592del" "" "{PKDdb:PKD1;99delC;763}" "" "99delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135591del" "" "pathogenic (dominant)" "" "0000671236" "0" "90" "16" "2185588" "2185589" "del" "0" "00006" "PKD1_002837" "g.2185588_2185589del" "" "{PKDdb:PKD1;102_103delGC;19}" "" "102_103delGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135587_2135588del" "" "pathogenic (dominant)" "" "0000671237" "0" "30" "16" "2185584" "2185584" "subst" "0" "00006" "PKD1_001113" "g.2185584G>T" "" "{PKDdb:PKD1;P36H;1614}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135583G>T" "" "likely benign" "" "0000671238" "0" "90" "16" "2185587" "2185588" "dup" "0" "00006" "PKD1_000207" "g.2185587_2185588dup" "" "{PKDdb:PKD1;108_109insCC;42}" "" "108_109insCC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135586_2135587dup" "" "pathogenic (dominant)" "" "0000671239" "0" "90" "16" "2185588" "2185588" "dup" "0" "00006" "PKD1_002835" "g.2185588dup" "" "{PKDdb:PKD1;108_109insC;50}" "" "108_109insC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135587dup" "" "pathogenic (dominant)" "" "0000671240" "0" "90" "16" "2185582" "2185582" "del" "0" "00006" "PKD1_002834" "g.2185582del" "" "{PKDdb:PKD1;109delT;2598}" "" "109delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135581del" "" "pathogenic (dominant)" "" "0000671241" "0" "90" "16" "2185580" "2185580" "subst" "0" "00006" "PKD1_000500" "g.2185580G>T" "" "{PKDdb:PKD1;C37X;873}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135579G>T" "" "pathogenic (dominant)" "" "0000671242" "0" "30" "16" "2185577" "2185577" "subst" "0" "00006" "PKD1_002833" "g.2185577G>A" "" "{PKDdb:PKD1;114C%3ET;92}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135576G>A" "" "likely benign" "" "0000671243" "0" "30" "16" "2185553" "2185553" "subst" "0" "00006" "PKD1_002832" "g.2185553G>A" "" "{PKDdb:PKD1;138C%3ET;214}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135552G>A" "" "likely benign" "" "0000671244" "0" "70" "16" "2185551" "2185551" "subst" "0" "00006" "PKD1_002831" "g.2185551C>G" "" "{PKDdb:PKD1;C47S;879}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135550C>G" "" "likely pathogenic (dominant)" "" "0000671245" "0" "30" "16" "2185547" "2185547" "subst" "0" "00006" "PKD1_002830" "g.2185547G>C" "" "{PKDdb:PKD1;144C%3EG;219}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135546G>C" "" "likely benign" "" "0000671246" "0" "30" "16" "2185544" "2185544" "subst" "0" "00006" "PKD1_002829" "g.2185544G>A" "" "{PKDdb:PKD1;147C%3ET;221}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135543G>A" "" "likely benign" "" "0000671247" "0" "70" "16" "2185539" "2185539" "subst" "0" "00006" "PKD1_002828" "g.2185539C>G" "" "{PKDdb:PKD1;C51S;881}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135538C>G" "" "likely pathogenic (dominant)" "" "0000671248" "0" "90" "16" "2185538" "2185538" "del" "0" "00006" "PKD1_002826" "g.2185538del" "" "{PKDdb:PKD1;153delC;229}" "" "153delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135537del" "" "pathogenic (dominant)" "" "0000671249" "0" "70" "16" "2185538" "2185538" "subst" "0" "00006" "PKD1_002827" "g.2185538G>C" "" "{PKDdb:PKD1;C51W;2507}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135537G>C" "" "likely pathogenic (dominant)" "" "0000671250" "0" "70" "16" "2185536" "2185536" "subst" "0" "00006" "PKD1_002825" "g.2185536G>A" "" "{PKDdb:PKD1;S52L;1980}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135535G>A" "" "likely pathogenic (dominant)" "" "0000671251" "0" "90" "16" "2185518" "2185539" "del" "0" "00006" "PKD1_002823" "g.2185518_2185539del" "" "{PKDdb:PKD1;158_179del22;2599}" "" "158_179del22" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135517_2135538del" "" "pathogenic (dominant)" "" "0000671252" "0" "90" "16" "2185524" "2185530" "del" "0" "00006" "PKD1_000414" "g.2185524_2185530del" "" "{PKDdb:PKD1;165_171del7;236}" "" "165_171del7" "definitely pathogenic in ADPKDdb; reported in 4 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135523_2135529del" "" "pathogenic (dominant)" "" "0000671253" "0" "30" "16" "2185522" "2185522" "subst" "0" "00006" "PKD1_002824" "g.2185522G>A" "" "{PKDdb:PKD1;R57W;1891}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135521G>A" "" "likely benign" "" "0000671254" "0" "30" "16" "2185509" "2185509" "subst" "0" "00006" "PKD1_000760" "g.2185509G>A" "" "{PKDdb:PKD1;P61L;1626}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135508G>A" "" "likely benign" "" "0000671255" "0" "30" "16" "2185477" "2185477" "subst" "0" "00006" "PKD1_002822" "g.2185477G>A" "" "{PKDdb:PKD1;214C%3ET;291}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2135476G>A" "" "likely benign" "" "0000671256" "0" "70" "16" "2185476" "2185476" "subst" "0" "00006" "PKD1_002821" "g.2185476A>T" "" "{PKDdb:PKD1;L72Q;1537}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2135475A>T" "" "likely pathogenic (dominant)" "" "0000671257" "0" "90" "16" "2156398" "2169380" "del" "0" "00006" "PKD1_002023" "g.(2156306_2156398)_(2169380_2185475)del" "" "{PKDdb:PKD1;IVS1_EX18del17kb*;1107}" "" "IVS1_EX18del 17kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2104643_2105321)_(2119379_2135474)del" "" "pathogenic (dominant)" "" "0000671258" "0" "90" "16" "2168206" "2171105" "del" "0" "00006" "PKD1_002756" "g.2168206_2171105del" "" "{PKDdb:PKD1;IVS1-1726_787del2899;1128}" "" "IVS1-1726_787del 2899bp" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118205_2121104del" "" "pathogenic (dominant)" "" "0000671259" "0" "30" "16" "2169458" "2169458" "subst" "0" "00006" "PKD1_002820" "g.2169458G>A" "" "{PKDdb:PKD1;IVS1-79C%3ET;1174}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119457G>A" "" "likely benign" "" "0000671260" "0" "90" "16" "2169380" "2169380" "subst" "0" "00006" "PKD1_002819" "g.2169380C>G" "" "{PKDdb:PKD1;IVS1-1G%3EC;2600}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119379C>G" "" "pathogenic (dominant)" "" "0000671261" "0" "70" "16" "2169371" "2169371" "subst" "0" "00006" "PKD1_000146" "g.2169371G>A" "" "{PKDdb:PKD1;S75F;1984}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119370G>A" "" "likely pathogenic (dominant)" "" "0000671262" "0" "70" "16" "2169365" "2169365" "subst" "0" "00006" "PKD1_002818" "g.2169365T>C" "" "{PKDdb:PKD1;N77S;1581}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119364T>C" "" "likely pathogenic (dominant)" "" "0000671263" "0" "70" "16" "2169359" "2169359" "subst" "0" "00006" "PKD1_002817" "g.2169359A>G" "" "{PKDdb:PKD1;L79P;1540}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119358A>G" "" "likely pathogenic (dominant)" "" "0000671264" "0" "50" "16" "2169357" "2169357" "subst" "0.00171108" "00006" "PKD1_002816" "g.2169357G>A" "" "{PKDdb:PKD1;R80W;1904}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119356G>A" "" "VUS" "" "0000671265" "0" "30" "16" "2169356" "2169356" "subst" "1.52117E-5" "00006" "PKD1_002815" "g.2169356C>T" "" "{PKDdb:PKD1;R80Q;1903}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119355C>T" "" "likely benign" "" "0000671266" "0" "50" "16" "2169336" "2169336" "subst" "0" "00006" "PKD1_002814" "g.2169336G>T" "" "{PKDdb:PKD1;L87M;1543}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119335G>T" "" "VUS" "" "0000671267" "0" "30" "16" "2169332" "2169332" "subst" "3.06434E-5" "00006" "PKD1_002813" "g.2169332G>A" "" "{PKDdb:PKD1;A88V;851}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119331G>A" "" "likely benign" "" "0000671268" "0" "50" "16" "2169329" "2169329" "subst" "0.000145547" "00006" "PKD1_002812" "g.2169329T>G" "" "{PKDdb:PKD1;N89T;1582}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119328T>G" "" "VUS" "" "0000671269" "0" "90" "16" "2169326" "2169327" "del" "0" "00006" "PKD1_002811" "g.2169326_2169327del" "" "{PKDdb:PKD1;271_272delTC;332}" "" "271_272delTC" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119325_2119326del" "" "pathogenic (dominant)" "" "0000671270" "0" "90" "16" "2169323" "2169323" "subst" "0" "00006" "PKD1_000314" "g.2169323G>T" "" "{PKDdb:PKD1;S91X;1989}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119322G>T" "" "pathogenic (dominant)" "" "0000671271" "0" "30" "16" "2169321" "2169321" "subst" "0" "00006" "PKD1_002810" "g.2169321C>T" "" "{PKDdb:PKD1;A92T;852}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119320C>T" "" "likely benign" "" "0000671272" "0" "30" "16" "2169319" "2169319" "subst" "0.00583783" "00006" "PKD1_002809" "g.2169319C>T" "" "{PKDdb:PKD1;276G%3EA;334}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119318C>T" "" "likely benign" "" "0000671273" "0" "70" "16" "2169308" "2169308" "subst" "0" "00006" "PKD1_002808" "g.2169308A>G" "" "{PKDdb:PKD1;L96P;1544}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119307A>G" "" "likely pathogenic (dominant)" "" "0000671274" "0" "70" "16" "2169304" "2169304" "subst" "0.000154859" "00006" "PKD1_002807" "g.2169304T>G" "" "{PKDdb:PKD1;IVS2~4A%3EC;1186}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119303T>G" "" "likely pathogenic (dominant)" "" "0000671275" "0" "30" "16" "2169218" "2169218" "subst" "0.000562014" "00006" "PKD1_002806" "g.2169218T>C" "" "{PKDdb:PKD1;IVS2-32A%3EG;1229}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119217T>C" "" "likely benign" "" "0000671276" "0" "30" "16" "2169207" "2169207" "subst" "0.00182223" "00006" "PKD1_002805" "g.2169207G>A" "" "{PKDdb:PKD1;IVS2-21C%3ET;1220}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119206G>A" "" "likely benign" "" "0000671277" "0" "30" "16" "2169197" "2169197" "subst" "0.000477924" "00006" "PKD1_002804" "g.2169197C>G" "" "{PKDdb:PKD1;IVS2-11G%3EC;1200}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119196C>G" "" "likely benign" "" "0000671278" "0" "30" "16" "2169189" "2169189" "subst" "0" "00006" "PKD1_002803" "g.2169189G>A" "" "{PKDdb:PKD1;IVS2-3C%3ET;2314}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119188G>A" "" "likely benign" "" "0000671279" "0" "90" "16" "2169188" "2169188" "subst" "0" "00006" "PKD1_002802" "g.2169188T>C" "" "{PKDdb:PKD1;IVS2-2A%3EG;1221}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119187T>C" "" "pathogenic (dominant)" "" "0000671280" "0" "30" "16" "2169186" "2169186" "subst" "0.000118184" "00006" "PKD1_002801" "g.2169186C>T" "" "{PKDdb:PKD1;288G%3EA;343}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119185C>T" "" "likely benign" "" "0000671281" "0" "70" "16" "2169184" "2169184" "subst" "0" "00006" "PKD1_000499" "g.2169184T>C" "" "{PKDdb:PKD1;D97G;905}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119183T>C" "" "likely pathogenic (dominant)" "" "0000671282" "0" "70" "16" "2169178" "2169178" "subst" "0" "00006" "PKD1_000438" "g.2169178C>A" "" "{PKDdb:PKD1;S99I;1991}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119177C>A" "" "likely pathogenic (dominant)" "" "0000671283" "0" "70" "16" "2169173" "2169173" "subst" "0" "00006" "PKD1_002800" "g.2169173T>C" "" "{PKDdb:PKD1;N101D;1557}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119172T>C" "" "likely pathogenic (dominant)" "" "0000671284" "0" "70" "16" "2169175" "2169177" "del" "0" "00006" "PKD1_000313" "g.2169175_2169177del" "" "{PKDdb:PKD1;N101del;1558}" "" "303_305delCAA" "highly likely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119174_2119176del" "" "likely pathogenic (dominant)" "" "0000671285" "0" "70" "16" "2169166" "2169166" "subst" "0" "00006" "PKD1_002799" "g.2169166A>G" "" "{PKDdb:PKD1;I103T;1090}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119165A>G" "" "likely pathogenic (dominant)" "" "0000671286" "0" "30" "16" "2169161" "2169161" "subst" "0.000314365" "00006" "PKD1_002798" "g.2169161T>A" "" "{PKDdb:PKD1;T105S;1992}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119160T>A" "" "likely benign" "" "0000671287" "0" "90" "16" "2169152" "2169152" "subst" "0" "00006" "PKD1_002797" "g.2169152C>A" "" "{PKDdb:PKD1;E108X;910}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119151C>A" "" "pathogenic (dominant)" "" "0000671288" "0" "70" "16" "2169154" "2169156" "del" "0" "00006" "PKD1_000427" "g.2169154_2169156del" "" "{PKDdb:PKD1;E108del;909}" "" "323_325delAAG" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119153_2119155del" "" "likely pathogenic (dominant)" "" "0000671289" "0" "30" "16" "2169147" "2169147" "subst" "0" "00006" "PKD1_002796" "g.2169147T>A" "" "{PKDdb:PKD1;327A%3ET;366}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119146T>A" "" "likely benign" "" "0000671290" "0" "30" "16" "2169141" "2169141" "subst" "0" "00006" "PKD1_002795" "g.2169141A>C" "" "{PKDdb:PKD1;F111L;978}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119140A>C" "" "likely benign" "" "0000671291" "0" "90" "16" "2169131" "2169135" "del" "0" "00006" "PKD1_002794" "g.2169131_2169135del" "" "{PKDdb:PKD1;341_345del5;372}" "" "341_345delTATTT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119130_2119134del" "" "pathogenic (dominant)" "" "0000671292" "0" "90" "16" "2169128" "2169132" "del" "0" "00006" "PKD1_000312" "g.2169128_2169132del" "" "{PKDdb:PKD1;348_352del5;377}" "" "348_352delTTTAA" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119127_2119131del" "" "pathogenic (dominant)" "" "0000671293" "0" "70" "16" "2169115" "2169115" "subst" "0" "00006" "PKD1_002793" "g.2169115A>G" "" "{PKDdb:PKD1;I120T;2531}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119114A>G" "" "likely pathogenic (dominant)" "" "0000671294" "0" "90" "16" "2169114" "2169114" "subst" "0" "00006" "PKD1_002792" "g.2169114C>T" "" "{PKDdb:PKD1;IVS3~1G%3EA;2319}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2119113C>T" "" "pathogenic (dominant)" "" "0000671295" "0" "90" "16" "2169113" "2169113" "subst" "0" "00006" "PKD1_002791" "g.2169113A>G" "" "{PKDdb:PKD1;IVS3~2T%3EC;1275}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2119112A>G" "" "pathogenic (dominant)" "" "0000671296" "0" "50" "16" "2168851" "2168851" "subst" "2.05165E-5" "00006" "PKD1_002790" "g.2168851A>G" "" "{PKDdb:PKD1;IVS3-5T%3EC;1311}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118850A>G" "" "VUS" "" "0000671297" "0" "70" "16" "2168833" "2168833" "subst" "0" "00006" "PKD1_002789" "g.2168833T>C" "" "{PKDdb:PKD1;N125D;2212}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118832T>C" "" "likely pathogenic (dominant)" "" "0000671298" "0" "90" "16" "2168822" "2168825" "del" "0" "00006" "PKD1_000413" "g.2168822_2168825del" "" "{PKDdb:PKD1;383_386del4;394}" "" "383_386delAGTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118821_2118824del" "" "pathogenic (dominant)" "" "0000671299" "0" "70" "16" "2168821" "2168821" "subst" "0" "00006" "PKD1_002788" "g.2168821A>G" "" "{PKDdb:PKD1;C129R;2532}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118820A>G" "" "likely pathogenic (dominant)" "" "0000671300" "0" "90" "16" "2168814" "2168815" "del" "0" "00006" "PKD1_000701" "g.2168814_2168815del" "" "{PKDdb:PKD1;393_394delTG;2320}" "" "393_394delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118813_2118814del" "" "pathogenic (dominant)" "" "0000671301" "0" "50" "16" "2168806" "2168806" "subst" "0" "00006" "PKD1_002787" "g.2168806C>G" "" "{PKDdb:PKD1;A134P;772}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118805C>G" "" "VUS" "" "0000671302" "0" "90" "16" "2168794" "2168794" "subst" "0" "00006" "PKD1_000412" "g.2168794G>A" "" "{PKDdb:PKD1;R138X;1760}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118793G>A" "" "pathogenic (dominant)" "" "0000671303" "0" "70" "16" "2168789" "2168789" "subst" "0" "00006" "PKD1_000144" "g.2168789C>A" "" "{PKDdb:PKD1;W139C;2101}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118788C>A" "" "likely pathogenic (dominant)" "" "0000671304" "0" "30" "16" "2168787" "2168787" "subst" "0.000111545" "00006" "PKD1_002786" "g.2168787G>A" "" "{PKDdb:PKD1;A140V;775}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118786G>A" "" "likely benign" "" "0000671305" "0" "30" "16" "2168783" "2168783" "subst" "0.000539862" "00006" "PKD1_001112" "g.2168783C>T" "" "{PKDdb:PKD1;423G%3EA;423}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118782C>T" "" "likely benign" "" "0000671306" "0" "70" "16" "2168742" "2168742" "subst" "0" "00006" "PKD1_002785" "g.2168742C>T" "" "{PKDdb:PKD1;C155Y;2533}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118741C>T" "" "likely pathogenic (dominant)" "" "0000671307" "0" "30" "16" "2168736" "2168736" "subst" "0" "00006" "PKD1_002784" "g.2168736C>T" "" "{PKDdb:PKD1;G157E;1011}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118735C>T" "" "likely benign" "" "0000671308" "0" "90" "16" "2168721" "2168721" "del" "0" "00006" "PKD1_002783" "g.2168721del" "" "{PKDdb:PKD1;485delC;2213}" "" "485delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118720del" "" "pathogenic (dominant)" "" "0000671309" "0" "30" "16" "2168715" "2168715" "subst" "0" "00006" "PKD1_000245" "g.2168715T>C" "" "{PKDdb:PKD1;Q164R;1649}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118714T>C" "" "likely benign" "" "0000671310" "0" "30" "16" "2168703" "2168703" "subst" "0" "00006" "PKD1_001138" "g.2168703C>G" "" "{PKDdb:PKD1;G168A;1014}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118702C>G" "" "likely benign" "" "0000671311" "0" "90" "16" "2168676" "2168676" "subst" "0" "00006" "PKD1_002782" "g.2168676C>T" "" "{PKDdb:PKD1;IVS4~1G%3EA;1341}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118675C>T" "" "pathogenic (dominant)" "" "0000671312" "0" "70" "16" "2168672" "2168672" "subst" "0" "00006" "PKD1_002781" "g.2168672C>T" "" "{PKDdb:PKD1;IVS4~5G%3EA;1347}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118671C>T" "" "likely pathogenic (dominant)" "" "0000671313" "0" "30" "16" "2168667" "2168667" "subst" "8.74967E-5" "00006" "PKD1_002780" "g.2168667C>T" "" "{PKDdb:PKD1;IVS4~10G%3EA;1339}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118666C>T" "" "likely benign" "" "0000671314" "0" "30" "16" "2168490" "2168491" "dup" "0" "00006" "PKD1_002779" "g.2168490_2168491dup" "" "{PKDdb:PKD1;IVS4-26insCC;1372}" "" "530-26insCC" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118489_2118490dup" "" "likely benign" "" "0000671315" "0" "70" "16" "2168445" "2168445" "subst" "0" "00006" "PKD1_002778" "g.2168445C>T" "" "{PKDdb:PKD1;C183Y;2534}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118444C>T" "" "likely pathogenic (dominant)" "" "0000671316" "0" "90" "16" "2168427" "2168427" "subst" "0" "00006" "PKD1_002777" "g.2168427G>T" "" "{PKDdb:PKD1;S189X;1925}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118426G>T" "" "pathogenic (dominant)" "" "0000671317" "0" "30" "16" "2168423" "2168423" "subst" "0" "00006" "PKD1_002776" "g.2168423G>A" "" "{PKDdb:PKD1;570C%3ET;507}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118422G>A" "" "likely benign" "" "0000671318" "0" "30" "16" "2168413" "2168413" "subst" "0.00113754" "00006" "PKD1_000698" "g.2168413C>T" "" "{PKDdb:PKD1;A194T;786}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118412C>T" "" "likely benign" "" "0000671319" "0" "90" "16" "2168408" "2168408" "del" "0" "00006" "PKD1_000498" "g.2168408del" "" "{PKDdb:PKD1;585delG;516}" "" "585delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118407del" "" "pathogenic (dominant)" "" "0000671320" "0" "30" "16" "2168405" "2168405" "subst" "0.00249849" "00006" "PKD1_002775" "g.2168405G>A" "" "{PKDdb:PKD1;588C%3ET;518}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118404G>A" "" "likely benign" "" "0000671321" "0" "30" "16" "2168390" "2168390" "subst" "0.00115561" "00006" "PKD1_000860" "g.2168390G>A" "" "{PKDdb:PKD1;603C%3ET;523}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118389G>A" "" "likely benign" "" "0000671322" "0" "30" "16" "2168390" "2168390" "" "0" "00006" "PKD1_000936" "g.2168390G>Y" "" "{PKDdb:PKD1;H201Q;1071}" "" "603C>T (His201Gln)" "variant description not correct; reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118389G>Y" "" "likely benign" "" "0000671323" "0" "90" "16" "2168377" "2168377" "dup" "0" "00006" "PKD1_002774" "g.2168377dup" "" "{PKDdb:PKD1;616_617insC;530}" "" "616_617insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118376dup" "" "pathogenic (dominant)" "" "0000671324" "0" "90" "16" "2168376" "2168376" "dup" "0" "00006" "PKD1_002773" "g.2168376dup" "" "{PKDdb:PKD1;617_618insA;2603}" "" "617_618insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118375dup" "" "pathogenic (dominant)" "" "0000671325" "0" "90" "16" "2168367" "2168367" "dup" "0" "00006" "PKD1_002772" "g.2168367dup" "" "{PKDdb:PKD1;627_628insC;537}" "" "627_628insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118366dup" "" "pathogenic (dominant)" "" "0000671326" "0" "90" "16" "2168362" "2168368" "del" "0" "00006" "PKD1_002769" "g.2168362_2168368del" "" "{PKDdb:PKD1;627_633del7;538}" "" "627_633delCTGCAGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118361_2118367del" "" "pathogenic (dominant)" "" "0000671327" "0" "70" "16" "2168365" "2168365" "subst" "0" "00006" "PKD1_000244" "g.2168365A>C" "" "{PKDdb:PKD1;C210G;855}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118364A>C" "" "likely pathogenic (dominant)" "" "0000671328" "0" "70" "16" "2168364" "2168364" "subst" "0" "00006" "PKD1_002770" "g.2168364C>A" "" "{PKDdb:PKD1;C210F;854}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118363C>A" "" "likely pathogenic (dominant)" "" "0000671329" "0" "70" "16" "2168364" "2168364" "subst" "0" "00006" "PKD1_002771" "g.2168364C>T" "" "{PKDdb:PKD1;C210Y;2214}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118363C>T" "" "likely pathogenic (dominant)" "" "0000671330" "0" "90" "16" "2168362" "2168365" "dup" "0" "00006" "PKD1_000411" "g.2168362_2168365dup" "" "{PKDdb:PKD1;631_632ins4;541}" "" "631_632insTGCA" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118361_2118364dup" "" "pathogenic (dominant)" "" "0000671331" "0" "30" "16" "2168360" "2168360" "subst" "5.45112E-5" "00006" "PKD1_002768" "g.2168360G>A" "" "{PKDdb:PKD1;633C%3ET;2275}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118359G>A" "" "likely benign" "" "0000671332" "0" "50" "16" "2168359" "2168359" "subst" "4.67574E-5" "00006" "PKD1_002767" "g.2168359C>T" "" "{PKDdb:PKD1;A212T;788}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118358C>T" "" "VUS" "" "0000671333" "0" "90" "16" "2168296" "2168336" "del" "0" "00006" "PKD1_002762" "g.2168296_2168336del" "" "{PKDdb:PKD1;661_701del41;2321}" "" "661_701del41" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118295_2118335del" "" "pathogenic (dominant)" "" "0000671334" "0" "30" "16" "2168324" "2168324" "subst" "7.68888E-6" "00006" "PKD1_002766" "g.2168324G>A" "" "{PKDdb:PKD1;669C%3ET;2276}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118323G>A" "" "likely benign" "" "0000671335" "0" "90" "16" "2168322" "2168323" "del" "0" "00006" "PKD1_002765" "g.2168322_2168323del" "" "{PKDdb:PKD1;673_674delTC;566}" "" "673_674delTC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118321_2118322del" "" "pathogenic (dominant)" "" "0000671336" "0" "70" "16" "2168319" "2168319" "subst" "0.00023033" "00006" "PKD1_002764" "g.2168319G>A" "" "{PKDdb:PKD1;S225L;2606}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118318G>A" "" "likely pathogenic (dominant)" "" "0000671337" "0" "90" "16" "2168319" "2168319" "subst" "0" "00006" "PKD1_000143" "g.2168319G>T" "" "{PKDdb:PKD1;S225X;1931}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118318G>T" "" "pathogenic (dominant)" "" "0000671338" "0" "90" "16" "2168314" "2168314" "subst" "0" "00006" "PKD1_000142" "g.2168314G>A" "" "{PKDdb:PKD1;Q227X;1673}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118313G>A" "" "pathogenic (dominant)" "" "0000671339" "0" "70" "16" "2168305" "2168305" "subst" "0" "00006" "PKD1_000410" "g.2168305A>T" "" "{PKDdb:PKD1;C230S;857}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118304A>T" "" "likely pathogenic (dominant)" "" "0000671340" "0" "90" "16" "2168303" "2168303" "subst" "0" "00006" "PKD1_000206" "g.2168303G>T" "" "{PKDdb:PKD1;C230X;858}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118302G>T" "" "pathogenic (dominant)" "" "0000671341" "0" "70" "16" "2168298" "2168298" "subst" "0" "00006" "PKD1_002763" "g.2168298C>T" "" "{PKDdb:PKD1;C232Y;2607}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118297C>T" "" "likely pathogenic (dominant)" "" "0000671342" "0" "90" "16" "2168287" "2168287" "subst" "0" "00006" "PKD1_002761" "g.2168287G>A" "" "{PKDdb:PKD1;Q236X;2322}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118286G>A" "" "pathogenic (dominant)" "" "0000671343" "0" "30" "16" "2168267" "2168267" "subst" "6.62261E-5" "00006" "PKD1_002759" "g.2168267A>G" "" "{PKDdb:PKD1;726T%3EC;602}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118266A>G" "" "likely benign" "" "0000671344" "0" "90" "16" "2168269" "2168269" "dup" "0" "00006" "PKD1_002760" "g.2168269dup" "" "{PKDdb:PKD1;726_727insT;2604}" "" "726_727insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118268dup" "" "pathogenic (dominant)" "" "0000671345" "0" "30" "16" "2168254" "2168254" "subst" "0.000934469" "00006" "PKD1_001110" "g.2168254G>A" "" "{PKDdb:PKD1;L247F;1476}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118253G>A" "" "likely benign" "" "0000671346" "0" "90" "16" "2168243" "2168243" "dup" "0" "00006" "PKD1_000259" "g.2168243dup" "" "{PKDdb:PKD1;755_756insC;623}" "" "755_756insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118242dup" "" "pathogenic (dominant)" "" "0000671347" "0" "50" "16" "2168238" "2168238" "subst" "6.01386E-5" "00006" "PKD1_002758" "g.2168238G>C" "" "{PKDdb:PKD1;P252R;1597}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118237G>C" "" "VUS" "" "0000671348" "0" "30" "16" "2168234" "2168234" "subst" "0" "00006" "PKD1_002757" "g.2168234T>C" "" "{PKDdb:PKD1;759A%3EG;628}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118233T>C" "" "likely benign" "" "0000671349" "0" "70" "16" "2168217" "2168217" "subst" "0.00012775" "00006" "PKD1_000409" "g.2168217C>T" "" "{PKDdb:PKD1;C259Y;864}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118216C>T" "" "likely pathogenic (dominant)" "" "0000671350" "0" "30" "16" "2168204" "2168204" "subst" "0" "00006" "PKD1_002755" "g.2168204G>A" "" "{PKDdb:PKD1;789C%3ET;649}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118203G>A" "" "likely benign" "" "0000671351" "0" "90" "16" "2168197" "2168197" "subst" "0" "00006" "PKD1_000205" "g.2168197G>A" "" "{PKDdb:PKD1;Q266X;1685}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118196G>A" "" "pathogenic (dominant)" "" "0000671352" "0" "70" "16" "2168181" "2168181" "subst" "0" "00006" "PKD1_000310" "g.2168181G>T" "" "{PKDdb:PKD1;A271D;805}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118180G>T" "" "likely pathogenic (dominant)" "" "0000671353" "0" "30" "16" "2168168" "2168168" "subst" "1.85729E-5" "00006" "PKD1_002754" "g.2168168G>A" "" "{PKDdb:PKD1;825C%3ET;669}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118167G>A" "" "likely benign" "" "0000671354" "0" "70" "16" "2168166" "2168166" "subst" "0.00114929" "00006" "PKD1_002753" "g.2168166G>A" "" "{PKDdb:PKD1;T276I;2215}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118165G>A" "" "likely pathogenic (dominant)" "" "0000671355" "0" "30" "16" "2168156" "2168156" "subst" "0.00571429" "00006" "PKD1_002751" "g.2168156C>T" "" "{PKDdb:PKD1;837G%3EA;680}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118155C>T" "" "likely benign" "" "0000671356" "0" "90" "16" "2168159" "2168159" "dup" "0" "00006" "PKD1_002752" "g.2168159dup" "" "{PKDdb:PKD1;837_838insG;679}" "" "837_838insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118158dup" "" "pathogenic (dominant)" "" "0000671357" "0" "50" "16" "2168139" "2168139" "subst" "0" "00006" "PKD1_002750" "g.2168139G>A" "" "{PKDdb:PKD1;A285V;809}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118138G>A" "" "VUS" "" "0000671358" "0" "90" "16" "2168140" "2168146" "del" "0" "00006" "PKD1_000694" "g.2168140_2168146del" "" "{PKDdb:PKD1;856_862del7;690}" "" "856_862delTCTGGCC" "definitely pathogenic in ADPKDdb; reported in 6 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118139_2118145del" "" "pathogenic (dominant)" "" "0000671359" "0" "90" "16" "2168131" "2168131" "subst" "0" "00006" "PKD1_000515" "g.2168131G>A" "" "{PKDdb:PKD1;Q288X;1689}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118130G>A" "" "pathogenic (dominant)" "" "0000671360" "0" "30" "16" "2168122" "2168122" "subst" "0.000363098" "00006" "PKD1_001137" "g.2168122C>A" "" "{PKDdb:PKD1;A291S;812}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118121C>A" "" "likely benign" "" "0000671361" "0" "90" "16" "2168080" "2168081" "ins" "0" "00006" "PKD1_002749" "g.2168080_2168081insCT" "" "{PKDdb:PKD1;912_913insAG;720}" "" "912_913insAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118079_2118080insCT" "" "pathogenic (dominant)" "" "0000671362" "0" "90" "16" "2168079" "2168080" "ins" "0" "00006" "PKD1_002748" "g.2168079_2168080insCT" "" "{PKDdb:PKD1;913_914insAG;721}" "" "913_914insAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118078_2118079insCT" "" "pathogenic (dominant)" "" "0000671363" "0" "90" "16" "2168080" "2168081" "dup" "0" "00006" "PKD1_000309" "g.2168080_2168081dup" "" "{PKDdb:PKD1;913_914insCT;722}" "" "913_914insCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118079_2118080dup" "" "pathogenic (dominant)" "" "0000671364" "0" "70" "16" "2168078" "2168078" "subst" "0" "00006" "PKD1_002747" "g.2168078C>A" "" "{PKDdb:PKD1;W305C;2122}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118077C>A" "" "likely pathogenic (dominant)" "" "0000671365" "0" "90" "16" "2168057" "2168070" "del" "0" "00006" "PKD1_000514" "g.2168057_2168070del" "" "{PKDdb:PKD1;926_939del14;730}" "" "926_939del14" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118056_2118069del" "" "pathogenic (dominant)" "" "0000671366" "0" "30" "16" "2168060" "2168060" "subst" "7.91544E-5" "00006" "PKD1_002746" "g.2168060G>A" "" "{PKDdb:PKD1;933C%3ET;736}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118059G>A" "" "likely benign" "" "0000671367" "0" "90" "16" "2168056" "2168056" "subst" "0" "00006" "PKD1_000418" "g.2168056C>A" "" "{PKDdb:PKD1;E313X;944}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118055C>A" "" "pathogenic (dominant)" "" "0000671368" "0" "70" "16" "2168033" "2168034" "ins" "0" "00006" "PKD1_002745" "g.2168033_2168034insCTC" "" "{PKDdb:PKD1;A320_A321insA;815}" "" "959_960insGAG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118032_2118033insCTC" "" "likely pathogenic (dominant)" "" "0000671369" "0" "90" "16" "2168013" "2168033" "del" "0" "00006" "PKD1_002742" "g.2168013_2168033del" "" "{PKDdb:PKD1;A321_L327del7;817}" "" "A321_L327del7" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118012_2118032del" "" "pathogenic (dominant)" "" "0000671370" "0" "90" "16" "2167988" "2168032" "del" "0" "00006" "PKD1_002739" "g.2167988_2168032del" "" "{PKDdb:PKD1;A321_A335del15;816}" "" "962_1006del45" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117987_2118031del" "" "pathogenic (dominant)" "" "0000671371" "0" "70" "16" "2168026" "2168026" "subst" "0" "00006" "PKD1_002744" "g.2168026G>C" "" "{PKDdb:PKD1;H323D;1083}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118025G>C" "" "likely pathogenic (dominant)" "" "0000671372" "0" "50" "16" "2168025" "2168025" "subst" "2.07972E-5" "00006" "PKD1_002743" "g.2168025T>C" "" "{PKDdb:PKD1;H323R;2559}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2118024T>C" "" "VUS" "" "0000671373" "0" "30" "16" "2168022" "2168022" "subst" "0.00256961" "00006" "PKD1_000054" "g.2168022C>A" "" "{PKDdb:PKD1;R324L;1852}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118021C>A" "" "likely benign" "" "0000671374" "0" "70" "16" "2168019" "2168019" "subst" "0" "00006" "PKD1_000408" "g.2168019T>C" "" "{PKDdb:PKD1;Y325C;2178}" "" "" "highly likely pathogenic in ADPKDdb; reported in 9 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2118018T>C" "" "likely pathogenic (dominant)" "" "0000671375" "0" "90" "16" "2168000" "2168000" "del" "0" "00006" "PKD1_002741" "g.2168000del" "" "{PKDdb:PKD1;993delT;758}" "" "993delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117999del" "" "pathogenic (dominant)" "" "0000671376" "0" "30" "16" "2167997" "2167997" "subst" "0" "00006" "PKD1_002740" "g.2167997G>A" "" "{PKDdb:PKD1;996C%3ET;761}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117996G>A" "" "likely benign" "" "0000671377" "0" "90" "16" "2167978" "2167984" "del" "0" "00006" "PKD1_002738" "g.2167978_2167984del" "" "{PKDdb:PKD1;1009_1015del7;15}" "" "1009_1015delCTGGCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117977_2117983del" "" "pathogenic (dominant)" "" "0000671378" "0" "30" "16" "2167970" "2167970" "subst" "0.0495596" "00006" "PKD1_001108" "g.2167970G>A" "" "{PKDdb:PKD1;1023C%3ET;20}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117969G>A" "" "likely benign" "" "0000671379" "0" "90" "16" "2167942" "2167942" "subst" "0" "00006" "PKD1_000407" "g.2167942G>A" "" "{PKDdb:PKD1;Q351X;1703}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117941G>A" "" "pathogenic (dominant)" "" "0000671380" "0" "90" "16" "2167852" "2167909" "del" "0" "00006" "PKD1_002731" "g.2167852_2167909del" "" "{PKDdb:PKD1;1087_1144del58;54}" "" "1087_1144del58" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117851_2117908del" "" "pathogenic (dominant)" "" "0000671381" "0" "30" "16" "2167889" "2167889" "subst" "0" "00006" "PKD1_002737" "g.2167889C>T" "" "{PKDdb:PKD1;1104G%3EA;62}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117888C>T" "" "likely benign" "" "0000671382" "0" "90" "16" "2167889" "2167890" "del" "0" "00006" "PKD1_000406" "g.2167889_2167890del" "" "{PKDdb:PKD1;1105_1106delAG;63}" "" "1105_1106delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117888_2117889del" "" "pathogenic (dominant)" "" "0000671383" "0" "90" "16" "2167882" "2167882" "subst" "0" "00006" "PKD1_002736" "g.2167882C>A" "" "{PKDdb:PKD1;Q371X;2323}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117881C>A" "" "pathogenic (dominant)" "" "0000671384" "0" "30" "16" "2167878" "2167878" "subst" "0.00013287" "00006" "PKD1_002735" "g.2167878C>T" "" "{PKDdb:PKD1;S372N;1968}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117877C>T" "" "likely benign" "" "0000671385" "0" "30" "16" "2167876" "2167876" "subst" "0.000133126" "00006" "PKD1_002734" "g.2167876G>C" "" "{PKDdb:PKD1;L373V;1509}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117875G>C" "" "likely benign" "" "0000671386" "0" "30" "16" "2167874" "2167874" "subst" "0" "00006" "PKD1_002733" "g.2167874A>G" "" "{PKDdb:PKD1;1119T%3EC;71}" "" "" "reported in 10 papers\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2117873A>G" "" "likely benign" "" "0000671387" "0" "50" "16" "2167856" "2167856" "subst" "0" "00006" "PKD1_002732" "g.2167856G>C" "" "{PKDdb:PKD1;N379K;1578}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117855G>C" "" "VUS" "" "0000671388" "0" "70" "16" "2167852" "2167852" "subst" "0" "00006" "PKD1_000183" "g.2167852C>A" "" "{PKDdb:PKD1;G381C;1054}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117851C>A" "" "likely pathogenic (dominant)" "" "0000671389" "0" "70" "16" "2167852" "2167852" "subst" "0" "00006" "PKD1_000405" "g.2167852C>T" "" "{PKDdb:PKD1;G381S;1055}" "" "" "highly likely pathogenic in ADPKDdb; reported in 7 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117851C>T" "" "likely pathogenic (dominant)" "" "0000671390" "0" "50" "16" "2167848" "2167848" "subst" "0" "00006" "PKD1_002730" "g.2167848C>T" "" "{PKDdb:PKD1;G382D;1056}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117847C>T" "" "VUS" "" "0000671391" "0" "70" "16" "2167827" "2167827" "subst" "0" "00006" "PKD1_002729" "g.2167827T>C" "" "{PKDdb:PKD1;Y389C;2188}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117826T>C" "" "likely pathogenic (dominant)" "" "0000671392" "0" "30" "16" "2167820" "2167820" "subst" "0" "00006" "PKD1_002728" "g.2167820G>A" "" "{PKDdb:PKD1;1173C%3ET;107}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117819G>A" "" "likely benign" "" "0000671393" "0" "30" "16" "2167808" "2167808" "subst" "9.93951E-5" "00006" "PKD1_002727" "g.2167808G>A" "" "{PKDdb:PKD1;1185C%3ET;114}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117807G>A" "" "likely benign" "" "0000671394" "0" "90" "16" "2167795" "2167795" "subst" "1.49428E-5" "00006" "PKD1_000172" "g.2167795G>A" "" "{PKDdb:PKD1;R400X;1873}" "" "" "definitely pathogenic in ADPKDdb; reported in 5 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117794G>A" "" "pathogenic (dominant)" "" "0000671395" "0" "30" "16" "2167721" "2167721" "subst" "0.000300575" "00006" "PKD1_002726" "g.2167721G>T" "" "{PKDdb:PKD1;IVS5-48C%3EA;1408}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117720G>T" "" "likely benign" "" "0000671396" "0" "70" "16" "2167682" "2167682" "subst" "0" "00006" "PKD1_000691" "g.2167682C>T" "" "{PKDdb:PKD1;IVS5-9G%3EA;1409}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117681C>T" "" "likely pathogenic (dominant)" "" "0000671397" "0" "30" "16" "2167673" "2167673" "subst" "0.000421215" "00006" "PKD1_000857" "g.2167673G>A" "" "{PKDdb:PKD1;A401V;837}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117672G>A" "" "likely benign" "" "0000671398" "0" "30" "16" "2167666" "2167666" "subst" "0" "00006" "PKD1_002725" "g.2167666G>A" "" "{PKDdb:PKD1;1209C%3ET;134}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117665G>A" "" "likely benign" "" "0000671399" "0" "50" "16" "2167664" "2167664" "subst" "8.36518E-5" "00006" "PKD1_002724" "g.2167664G>C" "" "{PKDdb:PKD1;P404R;1617}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117663G>C" "" "VUS" "" "0000671400" "0" "30" "16" "2167627" "2167627" "subst" "8.47903E-6" "00006" "PKD1_002723" "g.2167627G>A" "" "{PKDdb:PKD1;1248C%3ET;2277}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117626G>A" "" "likely benign" "" "0000671401" "0" "70" "16" "2167616" "2167616" "subst" "0" "00006" "PKD1_000308" "g.2167616T>C" "" "{PKDdb:PKD1;Y420C;2192}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117615T>C" "" "likely pathogenic (dominant)" "" "0000671402" "0" "70" "16" "2167616" "2167616" "subst" "0" "00006" "PKD1_002722" "g.2167616T>G" "" "{PKDdb:PKD1;Y420S;2216}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117615T>G" "" "likely pathogenic (dominant)" "" "0000671403" "0" "90" "16" "2167613" "2167614" "del" "0" "00006" "PKD1_002721" "g.2167613_2167614del" "" "{PKDdb:PKD1;1261_1262delCG;186}" "" "1261_1262delCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117612_2117613del" "" "pathogenic (dominant)" "" "0000671404" "0" "70" "16" "2167601" "2167603" "del" "0" "00006" "PKD1_002720" "g.2167601_2167603del" "" "{PKDdb:PKD1;E425del;961}" "" "1273_1275delGAG" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117600_2117602del" "" "likely pathogenic (dominant)" "" "0000671405" "0" "30" "16" "2167594" "2167594" "subst" "0.00112731" "00006" "PKD1_001107" "g.2167594C>T" "" "{PKDdb:PKD1;1281G%3EA;199}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117593C>T" "" "likely benign" "" "0000671406" "0" "70" "16" "2167589" "2167589" "subst" "0" "00006" "PKD1_000758" "g.2167589C>A" "" "{PKDdb:PKD1;W429L;2151}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117588C>A" "" "likely pathogenic (dominant)" "" "0000671407" "0" "90" "16" "2167583" "2167584" "ins" "0" "00006" "PKD1_002719" "g.2167583_2167584insC" "" "{PKDdb:PKD1;1291_1292insG;201}" "" "1291_1292insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117582_2117583insC" "" "pathogenic (dominant)" "" "0000671408" "0" "70" "16" "2167581" "2167581" "subst" "0" "00006" "PKD1_002718" "g.2167581C>T" "" "{PKDdb:PKD1;A432T;841}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117580C>T" "" "likely pathogenic (dominant)" "" "0000671409" "0" "70" "16" "2167580" "2167580" "subst" "0" "00006" "PKD1_000404" "g.2167580G>A" "" "{PKDdb:PKD1;A432V;842}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117579G>A" "" "likely pathogenic (dominant)" "" "0000671410" "0" "70" "16" "2167569" "2167569" "subst" "0" "00006" "PKD1_000497" "g.2167569A>G" "" "{PKDdb:PKD1;C436R;876}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117568A>G" "" "likely pathogenic (dominant)" "" "0000671411" "0" "90" "16" "2167569" "2167570" "del" "0" "00006" "PKD1_000496" "g.2167569_2167570del" "" "{PKDdb:PKD1;1307_1308delGT;203}" "" "1307_1308delGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117568_2117569del" "" "pathogenic (dominant)" "" "0000671412" "0" "70" "16" "2167568" "2167568" "subst" "0" "00006" "PKD1_000403" "g.2167568C>T" "" "{PKDdb:PKD1;C436Y;878}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117567C>T" "" "likely pathogenic (dominant)" "" "0000671413" "0" "70" "16" "2167567" "2167567" "subst" "0" "00006" "PKD1_002717" "g.2167567A>C" "" "{PKDdb:PKD1;C436W;877}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117566A>C" "" "likely pathogenic (dominant)" "" "0000671414" "0" "30" "16" "2167552" "2167552" "subst" "0.00206118" "00006" "PKD1_002716" "g.2167552C>T" "" "{PKDdb:PKD1;1323G%3EA;204}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117551C>T" "" "likely benign" "" "0000671415" "0" "70" "16" "2167551" "2167551" "subst" "0" "00006" "PKD1_000495" "g.2167551C>G" "" "{PKDdb:PKD1;A442P;843}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117550C>G" "" "likely pathogenic (dominant)" "" "0000671416" "0" "30" "16" "2167549" "2167549" "subst" "0.000204405" "00006" "PKD1_002715" "g.2167549G>A" "" "{PKDdb:PKD1;1326C%3ET;205}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117548G>A" "" "likely benign" "" "0000671417" "0" "30" "16" "2167540" "2167540" "subst" "0.000122403" "00006" "PKD1_002714" "g.2167540T>C" "" "{PKDdb:PKD1;1335A%3EG;207}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117539T>C" "" "likely benign" "" "0000671418" "0" "90" "16" "2167527" "2167527" "del" "0" "00006" "PKD1_000402" "g.2167527del" "" "{PKDdb:PKD1;1350delC;209}" "" "1350delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117526del" "" "pathogenic (dominant)" "" "0000671419" "0" "30" "16" "2167521" "2167521" "subst" "1.9199E-5" "00006" "PKD1_002713" "g.2167521C>T" "" "{PKDdb:PKD1;V452M;2081}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117520C>T" "" "likely benign" "" "0000671420" "0" "90" "16" "2167518" "2167518" "subst" "0" "00006" "PKD1_002712" "g.2167518G>A" "" "{PKDdb:PKD1;Q453X;1732}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117517G>A" "" "pathogenic (dominant)" "" "0000671421" "0" "50" "16" "2167515" "2167515" "subst" "0" "00006" "PKD1_002711" "g.2167515G>A" "" "{PKDdb:PKD1;R454C;1887}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117514G>A" "" "VUS" "" "0000671422" "0" "50" "16" "2167514" "2167514" "subst" "0" "00006" "PKD1_002710" "g.2167514C>G" "" "{PKDdb:PKD1;R454P;1888}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117513C>G" "" "VUS" "" "0000671423" "0" "30" "16" "2167507" "2167507" "subst" "2.41834E-5" "00006" "PKD1_002709" "g.2167507C>A" "" "{PKDdb:PKD1;1368G%3ET;2278}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117506C>A" "" "likely benign" "" "0000671424" "0" "70" "16" "2167496" "2167496" "subst" "0" "00006" "PKD1_002707" "g.2167496A>G" "" "{PKDdb:PKD1;V460A;2217}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117495A>G" "" "likely pathogenic (dominant)" "" "0000671425" "0" "70" "16" "2167496" "2167496" "subst" "0" "00006" "PKD1_002708" "g.2167496A>T" "" "{PKDdb:PKD1;V460D;2082}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117495A>T" "" "likely pathogenic (dominant)" "" "0000671426" "0" "30" "16" "2167464" "2167464" "subst" "0.00645888" "00006" "PKD1_002706" "g.2167464G>A" "" "{PKDdb:PKD1;IVS6~26C%3ET;1410}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117463G>A" "" "likely benign" "" "0000671427" "0" "30" "16" "2167125" "2167125" "subst" "0" "00006" "PKD1_002705" "g.2167125T>C" "" "{PKDdb:PKD1;IVS6-71G%3EA;1419}" "" "1386-71G>A" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117124T>C" "" "likely benign" "" "0000671428" "0" "50" "16" "2167070" "2167070" "subst" "0" "00006" "PKD1_002704" "g.2167070G>T" "" "{PKDdb:PKD1;IVS6-16C%3EA;1412}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117069G>T" "" "VUS" "" "0000671429" "0" "50" "16" "2167044" "2167044" "subst" "0" "00006" "PKD1_002703" "g.2167044C>G" "" "{PKDdb:PKD1;V466L;2083}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117043C>G" "" "VUS" "" "0000671430" "0" "50" "16" "2167044" "2167044" "subst" "0" "00006" "PKD1_001105" "g.2167044C>T" "" "{PKDdb:PKD1;V466M;2084}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2117043C>T" "" "VUS" "" "0000671431" "0" "90" "16" "2167039" "2167039" "subst" "0" "00006" "PKD1_000401" "g.2167039C>T" "" "{PKDdb:PKD1;W467X;2153}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117038C>T" "" "pathogenic (dominant)" "" "0000671432" "0" "50" "16" "2167028" "2167028" "subst" "0" "00006" "PKD1_002702" "g.2167028G>A" "" "{PKDdb:PKD1;S471L;2218}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117027G>A" "" "VUS" "" "0000671433" "0" "90" "16" "2167018" "2167018" "dup" "0" "00006" "PKD1_002701" "g.2167018dup" "" "{PKDdb:PKD1;1426_1427insG;215}" "" "1426_1427insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117017dup" "" "pathogenic (dominant)" "" "0000671434" "0" "50" "16" "2167010" "2167010" "subst" "0" "00006" "PKD1_002700" "g.2167010T>A" "" "{PKDdb:PKD1;E477V;962}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2117009T>A" "" "VUS" "" "0000671435" "0" "90" "16" "2166930" "2166948" "dup" "0" "00006" "PKD1_000400" "g.2166930_2166948dup" "" "{PKDdb:PKD1;1510_1511ins19;224}" "" "1510_1511insGGGGAGCCACACCCAGCCA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116929_2116947dup" "" "pathogenic (dominant)" "" "0000671436" "0" "90" "16" "2166924" "2166924" "subst" "0" "00006" "PKD1_002699" "g.2166924C>A" "" "{PKDdb:PKD1;E506X;2324}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116923C>A" "" "pathogenic (dominant)" "" "0000671437" "0" "70" "16" "2166918" "2166918" "subst" "0" "00006" "PKD1_000243" "g.2166918A>G" "" "{PKDdb:PKD1;C508R;880}" "" "" "highly likely pathogenic in ADPKDdb; reported in 5 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116917A>G" "" "likely pathogenic (dominant)" "" "0000671438" "0" "90" "16" "2166916" "2166916" "subst" "0" "00006" "PKD1_002698" "g.2166916G>T" "" "{PKDdb:PKD1;C508X;2325}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116915G>T" "" "pathogenic (dominant)" "" "0000671439" "0" "30" "16" "2166915" "2166915" "subst" "0" "00006" "PKD1_002697" "g.2166915C>T" "" "{PKDdb:PKD1;V509I;2085}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116914C>T" "" "likely benign" "" "0000671440" "0" "30" "16" "2166912" "2166912" "subst" "2.40991E-5" "00006" "PKD1_002696" "g.2166912G>A" "" "{PKDdb:PKD1;R510W;1890}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116911G>A" "" "likely benign" "" "0000671441" "0" "30" "16" "2166907" "2166907" "subst" "0.000729436" "00006" "PKD1_002695" "g.2166907G>A" "" "{PKDdb:PKD1;1533C%3ET;227}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116906G>A" "" "likely benign" "" "0000671442" "0" "30" "16" "2166901" "2166901" "subst" "0.0387228" "00006" "PKD1_002694" "g.2166901G>A" "" "{PKDdb:PKD1;1539C%3ET;228}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116900G>A" "" "likely benign" "" "0000671443" "0" "70" "16" "2166897" "2166897" "subst" "0" "00006" "PKD1_002692" "g.2166897C>T" "" "{PKDdb:PKD1;G515R;1064}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116896C>T" "" "likely pathogenic (dominant)" "" "0000671444" "0" "70" "16" "2166897" "2166897" "subst" "0" "00006" "PKD1_002693" "g.2166897C>A" "" "{PKDdb:PKD1;G515W;2608}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116896C>A" "" "likely pathogenic (dominant)" "" "0000671445" "0" "30" "16" "2166883" "2166883" "subst" "0.00011013" "00006" "PKD1_002691" "g.2166883G>A" "" "{PKDdb:PKD1;1557C%3ET;2279}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116882G>A" "" "likely benign" "" "0000671446" "0" "90" "16" "2166876" "2166876" "del" "0" "00006" "PKD1_000399" "g.2166876del" "" "{PKDdb:PKD1;1564delT;231}" "" "1564delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116875del" "" "pathogenic (dominant)" "" "0000671447" "0" "70" "16" "2166864" "2166864" "subst" "0" "00006" "PKD1_002690" "g.2166864G>C" "" "{PKDdb:PKD1;H526D;2535}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116863G>C" "" "likely pathogenic (dominant)" "" "0000671448" "0" "70" "16" "2166857" "2166857" "subst" "0" "00006" "PKD1_000307" "g.2166857T>C" "" "{PKDdb:PKD1;Y528C;2195}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116856T>C" "" "likely pathogenic (dominant)" "" "0000671449" "0" "70" "16" "2166851" "2166851" "subst" "0" "00006" "PKD1_002689" "g.2166851C>T" "" "{PKDdb:PKD1;C530Y;883}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116850C>T" "" "likely pathogenic (dominant)" "" "0000671450" "0" "70" "16" "2166850" "2166850" "subst" "0" "00006" "PKD1_002688" "g.2166850G>C" "" "{PKDdb:PKD1;C530W;882}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116849G>C" "" "likely pathogenic (dominant)" "" "0000671451" "0" "30" "16" "2166846" "2166846" "subst" "0" "00006" "PKD1_002687" "g.2166846G>C" "" "{PKDdb:PKD1;L532V;2219}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116845G>C" "" "likely benign" "" "0000671452" "0" "90" "16" "2166843" "2166843" "subst" "0" "00006" "PKD1_002686" "g.2166843G>A" "" "{PKDdb:PKD1;Q533X;1735}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116842G>A" "" "pathogenic (dominant)" "" "0000671453" "0" "30" "16" "2166838" "2166838" "subst" "1.50921E-5" "00006" "PKD1_000757" "g.2166838G>A" "" "{PKDdb:PKD1;1602C%3ET;2280}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116837G>A" "" "likely benign" "" "0000671454" "0" "70" "16" "2166834" "2166834" "subst" "0" "00006" "PKD1_000688" "g.2166834C>T" "" "{PKDdb:PKD1;1606G%3EA;232}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116833C>T" "" "likely pathogenic (dominant)" "" "0000671455" "0" "90" "16" "2166833" "2166833" "subst" "0" "00006" "PKD1_002685" "g.2166833C>T" "" "{PKDdb:PKD1;IVS7~1G%3EA;1421}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116832C>T" "" "pathogenic (dominant)" "" "0000671456" "0" "90" "16" "2166832" "2166832" "subst" "0" "00006" "PKD1_002684" "g.2166832A>G" "" "{PKDdb:PKD1;IVS7~2T%3EC;2326}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116831A>G" "" "pathogenic (dominant)" "" "0000671457" "0" "30" "16" "2166684" "2166684" "subst" "0" "00006" "PKD1_002683" "g.2166684G>A" "" "{PKDdb:PKD1;IVS7-39C%3ET;1427}" "" "1607-39C>T" "variant decription not correct; reported in 1 paper\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2116683G>A" "" "likely benign" "" "0000671458" "0" "30" "16" "2166672" "2166672" "subst" "0.0633739" "00006" "PKD1_002682" "g.2166672G>A" "" "{PKDdb:PKD1;IVS7-27C%3ET;1426}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116671G>A" "" "likely benign" "" "0000671459" "0" "90" "16" "2166168" "2166648" "del" "0" "00006" "PKD1_002670" "g.2166168_2166648del" "" "{PKDdb:PKD1;1609_IVS8-44del480;2508}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116167_2116647del" "" "pathogenic (dominant)" "" "0000671460" "0" "30" "16" "2166631" "2166631" "subst" "0" "00006" "PKD1_002681" "g.2166631C>G" "" "{PKDdb:PKD1;A541P;844}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116630C>G" "" "likely benign" "" "0000671461" "0" "50" "16" "2166627" "2166627" "subst" "0" "00006" "PKD1_002680" "g.2166627T>C" "" "{PKDdb:PKD1;E542G;964}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116626T>C" "" "VUS" "" "0000671462" "0" "70" "16" "2166614" "2166616" "del" "0" "00006" "PKD1_000306" "g.2166614_2166616del" "" "{PKDdb:PKD1;V546del;2088}" "" "1637_1639delTGG" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116613_2116615del" "" "likely pathogenic (dominant)" "" "0000671463" "0" "90" "16" "2166593" "2166593" "dup" "0" "00006" "PKD1_002679" "g.2166593dup" "" "{PKDdb:PKD1;1659_1660insG;237}" "" "1659_1660insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116592dup" "" "pathogenic (dominant)" "" "0000671464" "0" "90" "16" "2166587" "2166588" "del" "0" "00006" "PKD1_000398" "g.2166587_2166588del" "" "{PKDdb:PKD1;1664_1665delGA;238}" "" "1664_1665delGA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116586_2116587del" "" "pathogenic (dominant)" "" "0000671465" "0" "30" "16" "2166586" "2166586" "subst" "0" "00006" "PKD1_002678" "g.2166586G>A" "" "{PKDdb:PKD1;P556S;1623}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116585G>A" "" "likely benign" "" "0000671466" "0" "90" "16" "2166582" "2166582" "del" "0" "00006" "PKD1_002677" "g.2166582del" "" "{PKDdb:PKD1;1670delT;2327}" "" "1670delT" "definitely pathogenic in ADPKDdb; reported in 4 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116581del" "" "pathogenic (dominant)" "" "0000671467" "0" "30" "16" "2166578" "2166578" "subst" "6.00876E-5" "00006" "PKD1_002676" "g.2166578C>T" "" "{PKDdb:PKD1;1674G%3EA;239}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116577C>T" "" "likely benign" "" "0000671468" "0" "90" "16" "2166568" "2166568" "subst" "0" "00006" "PKD1_000397" "g.2166568G>A" "" "{PKDdb:PKD1;Q562X;1738}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116567G>A" "" "pathogenic (dominant)" "" "0000671469" "0" "90" "16" "2166565" "2166565" "subst" "0" "00006" "PKD1_000182" "g.2166565G>A" "" "{PKDdb:PKD1;Q563X;1739}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116564G>A" "" "pathogenic (dominant)" "" "0000671470" "0" "30" "16" "2166560" "2166560" "subst" "0.000356149" "00006" "PKD1_002675" "g.2166560G>A" "" "{PKDdb:PKD1;1692C%3ET;240}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116559G>A" "" "likely benign" "" "0000671471" "0" "90" "16" "2166549" "2166549" "del" "0" "00006" "PKD1_000171" "g.2166549del" "" "{PKDdb:PKD1;1706delC;242}" "" "1706delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116548del" "" "pathogenic (dominant)" "" "0000671472" "0" "30" "16" "2166542" "2166542" "subst" "0.00510738" "00006" "PKD1_002674" "g.2166542G>A" "" "{PKDdb:PKD1;1710C%3ET;243}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116541G>A" "" "likely benign" "" "0000671473" "0" "30" "16" "2166538" "2166538" "subst" "0.00752623" "00006" "PKD1_001104" "g.2166538G>A" "" "{PKDdb:PKD1;P572S;1624}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116537G>A" "" "likely benign" "" "0000671474" "0" "50" "16" "2166535" "2166535" "subst" "0" "00006" "PKD1_002673" "g.2166535C>T" "" "{PKDdb:PKD1;V573M;2089}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116534C>T" "" "VUS" "" "0000671475" "0" "90" "16" "2166529" "2166529" "subst" "0" "00006" "PKD1_002672" "g.2166529C>T" "" "{PKDdb:PKD1;IVS8~1G%3EA;2328}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116528C>T" "" "pathogenic (dominant)" "" "0000671476" "0" "30" "16" "2166507" "2166507" "subst" "9.2247E-5" "00006" "PKD1_002671" "g.2166507G>A" "" "{PKDdb:PKD1;IVS8~23C%3ET;1430}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116506G>A" "" "likely benign" "" "0000671477" "0" "90" "16" "2166121" "2166121" "subst" "0" "00006" "PKD1_002669" "g.2166121T>G" "" "{PKDdb:PKD1;IVS8-2A%3EC;2329}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116120T>G" "" "pathogenic (dominant)" "" "0000671478" "0" "70" "16" "2166112" "2166112" "subst" "0" "00006" "PKD1_002668" "g.2166112A>C" "" "{PKDdb:PKD1;V577G;2536}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116111A>C" "" "likely pathogenic (dominant)" "" "0000671479" "0" "70" "16" "2166106" "2166106" "subst" "0" "00006" "PKD1_002667" "g.2166106G>T" "" "{PKDdb:PKD1;P579Q;1625}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116105G>T" "" "likely pathogenic (dominant)" "" "0000671480" "0" "30" "16" "2166105" "2166105" "subst" "0" "00006" "PKD1_002666" "g.2166105C>T" "" "{PKDdb:PKD1;1737G%3EA;245}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116104C>T" "" "likely benign" "" "0000671481" "0" "90" "16" "2166087" "2166087" "dup" "0" "00006" "PKD1_000396" "g.2166087dup" "" "{PKDdb:PKD1;1755_1756insT;246}" "" "1755_1756insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116086dup" "" "pathogenic (dominant)" "" "0000671482" "0" "30" "16" "2166084" "2166084" "subst" "0.000215122" "00006" "PKD1_002665" "g.2166084T>G" "" "{PKDdb:PKD1;E586D;965}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116083T>G" "" "likely benign" "" "0000671483" "0" "90" "16" "2166074" "2166074" "del" "0" "00006" "PKD1_002664" "g.2166074del" "" "{PKDdb:PKD1;1768delA;247}" "" "1768delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116073del" "" "pathogenic (dominant)" "" "0000671484" "0" "90" "16" "2166070" "2166070" "del" "0" "00006" "PKD1_002663" "g.2166070del" "" "{PKDdb:PKD1;1772delC;2330}" "" "1772delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116069del" "" "pathogenic (dominant)" "" "0000671485" "0" "90" "16" "2166064" "2166064" "del" "0" "00006" "PKD1_002662" "g.2166064del" "" "{PKDdb:PKD1;1779delA;248}" "" "1779delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116063del" "" "pathogenic (dominant)" "" "0000671486" "0" "50" "16" "2166061" "2166061" "subst" "0" "00006" "PKD1_002661" "g.2166061A>T" "" "{PKDdb:PKD1;F594Y;1001}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116060A>T" "" "VUS" "" "0000671487" "0" "30" "16" "2166041" "2166041" "subst" "4.81888E-5" "00006" "PKD1_002660" "g.2166041G>A" "" "{PKDdb:PKD1;R601W;1892}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116040G>A" "" "likely benign" "" "0000671488" "0" "70" "16" "2166028" "2166028" "subst" "0" "00006" "PKD1_000395" "g.2166028A>C" "" "{PKDdb:PKD1;L605R;1529}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116027A>C" "" "likely pathogenic (dominant)" "" "0000671489" "0" "50" "16" "2166016" "2166016" "subst" "0" "00006" "PKD1_002659" "g.2166016A>C" "" "{PKDdb:PKD1;V609G;2090}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116015A>C" "" "VUS" "" "0000671490" "0" "90" "16" "2166012" "2166013" "ins" "0" "00006" "PKD1_002657" "g.2166012_2166013insA" "" "{PKDdb:PKD1;1829_1830insT;251}" "" "1829_1830insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116011_2116012insA" "" "pathogenic (dominant)" "" "0000671491" "0" "70" "16" "2166013" "2166013" "subst" "0" "00006" "PKD1_002658" "g.2166013T>C" "" "{PKDdb:PKD1;Y610C;2196}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2116012T>C" "" "likely pathogenic (dominant)" "" "0000671492" "0" "70" "16" "2166011" "2166011" "subst" "0" "00006" "PKD1_000305" "g.2166011G>A" "" "{PKDdb:PKD1;R611W;1894}" "" "" "likely pathogenic in ADPKDdb; reported in 4 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2116010G>A" "" "likely pathogenic (dominant)" "" "0000671493" "0" "90" "16" "2165996" "2165996" "del" "0" "00006" "PKD1_002656" "g.2165996del" "" "{PKDdb:PKD1;1846delG;255}" "" "1846delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115995del" "" "pathogenic (dominant)" "" "0000671494" "0" "90" "16" "2165992" "2165992" "subst" "0" "00006" "PKD1_002655" "g.2165992C>A" "" "{PKDdb:PKD1;IVS9~1G%3ET;1438}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115991C>A" "" "pathogenic (dominant)" "" "0000671495" "0" "50" "16" "2165987" "2165988" "delins" "0" "00006" "PKD1_002654" "g.2165987_2165988delinsAT" "" "{PKDdb:PKD1;IVS9~5G%3ET,~6A%3ET;1445}" "" "1849+5G>A,+6A>T" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115986_2115987delinsAT" "" "VUS" "" "0000671496" "0" "30" "16" "2165970" "2165983" "del" "0" "00006" "PKD1_002648" "g.2165970_2165983del" "" "{PKDdb:PKD1;IVS9~14_~27del14;1434}" "" "1849+14_+27del14" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115969_2115982del" "" "likely benign" "" "0000671497" "0" "30" "16" "2165977" "2165983" "del" "0" "00006" "PKD1_002647" "g.2165977_2165983del" "" "{PKDdb:PKD1;IVS9~18_~24del7;1435}" "" "1849+18_+24del7" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115976_2115982del" "" "likely benign" "" "0000671498" "0" "70" "16" "2165974" "2165974" "subst" "0" "00006" "PKD1_002653" "g.2165974C>T" "" "{PKDdb:PKD1;IVS9~19G%3EA;1436}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115973C>T" "" "likely pathogenic (dominant)" "" "0000671499" "0" "50" "16" "2165972" "2165972" "subst" "0" "00006" "PKD1_002652" "g.2165972A>T" "" "{PKDdb:PKD1;IVS9~21T%3EA;1440}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115971A>T" "" "VUS" "" "0000671500" "0" "30" "16" "2165970" "2165983" "del" "0" "00006" "PKD1_002648" "g.2165970_2165983del" "" "{PKDdb:PKD1;IVS9~21_~34del14;1439}" "" "1849+21_+34del14" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115969_2115982del" "" "likely benign" "" "0000671501" "0" "30" "16" "2165970" "2165970" "subst" "0" "00006" "PKD1_002651" "g.2165970C>T" "" "{PKDdb:PKD1;IVS9~23G%3EA;1441}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115969C>T" "" "likely benign" "" "0000671502" "0" "30" "16" "2165967" "2165967" "subst" "0" "00006" "PKD1_002650" "g.2165967C>T" "" "{PKDdb:PKD1;IVS9~26G%3EA;1442}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115966C>T" "" "likely benign" "" "0000671503" "0" "30" "16" "2165977" "2165983" "del" "0" "00006" "PKD1_002647" "g.2165977_2165983del" "" "{PKDdb:PKD1;IVS9~28_~34del7;1443}" "" "1849+28_34delTGGTGGG" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115976_2115982del" "" "likely benign" "" "0000671504" "0" "30" "16" "2165963" "2165963" "subst" "0" "00006" "PKD1_002649" "g.2165963C>T" "" "{PKDdb:PKD1;IVS9~30G%3EA;1444}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115962C>T" "" "likely benign" "" "0000671505" "0" "30" "16" "2165926" "2165926" "subst" "0" "00006" "PKD1_002646" "g.2165926A>G" "" "{PKDdb:PKD1;IVS9~67T%3EC;1446}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115925A>G" "" "likely benign" "" "0000671506" "0" "30" "16" "2165902" "2165902" "subst" "0" "00006" "PKD1_002645" "g.2165902T>C" "" "{PKDdb:PKD1;IVS9~91A%3EG;1447}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115901T>C" "" "likely benign" "" "0000671507" "0" "30" "16" "2165670" "2165670" "subst" "9.84963E-5" "00006" "PKD1_002644" "g.2165670C>G" "" "{PKDdb:PKD1;IVS9-44G%3EC;1453}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115669C>G" "" "likely benign" "" "0000671508" "0" "30" "16" "2165653" "2165653" "subst" "0" "00006" "PKD1_002643" "g.2165653C>T" "" "{PKDdb:PKD1;IVS9-27G%3EA;1450}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115652C>T" "" "likely benign" "" "0000671509" "0" "30" "16" "2165630" "2165630" "subst" "0.154674" "00006" "PKD1_000756" "g.2165630T>C" "" "{PKDdb:PKD1;IVS9-4A%3EG;1454}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115629T>C" "" "likely benign" "" "0000671510" "0" "30" "16" "2165630" "2165630" "subst" "0" "00006" "PKD1_002642" "g.2165630T>A" "" "{PKDdb:PKD1;IVS9-4A%3ET;1455}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115629T>A" "" "likely benign" "" "0000671511" "0" "90" "16" "2165628" "2165628" "subst" "0" "00006" "PKD1_002641" "g.2165628T>C" "" "{PKDdb:PKD1;IVS9-2A%3EG;1451}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115627T>C" "" "pathogenic (dominant)" "" "0000671512" "0" "30" "16" "2165613" "2165613" "subst" "0" "00006" "PKD1_002640" "g.2165613G>A" "" "{PKDdb:PKD1;1863C%3ET;2281}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115612G>A" "" "likely benign" "" "0000671513" "0" "30" "16" "2165606" "2165606" "subst" "0" "00006" "PKD1_002639" "g.2165606C>T" "" "{PKDdb:PKD1;E624K;966}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115605C>T" "" "likely benign" "" "0000671514" "0" "30" "16" "2165591" "2165591" "subst" "0" "00006" "PKD1_002638" "g.2165591A>T" "" "{PKDdb:PKD1;S629T;1982}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115590A>T" "" "likely benign" "" "0000671515" "0" "30" "16" "2165590" "2165590" "subst" "9.66781E-6" "00006" "PKD1_000266" "g.2165590G>A" "" "{PKDdb:PKD1;S629F;1981}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115589G>A" "" "likely benign" "" "0000671516" "0" "30" "16" "2165566" "2165566" "subst" "0" "00006" "PKD1_001101" "g.2165566G>A" "" "{PKDdb:PKD1;A637V;847}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115565G>A" "" "likely benign" "" "0000671517" "0" "90" "16" "2165566" "2165566" "del" "0" "00006" "PKD1_002637" "g.2165566del" "" "{PKDdb:PKD1;1914delC;257}" "" "1914delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115565del" "" "pathogenic (dominant)" "" "0000671518" "0" "90" "16" "2165529" "2165557" "del" "0" "00006" "PKD1_002632" "g.2165529_2165557del" "" "{PKDdb:PKD1;1921_1949del29;258}" "" "1921_1949del29" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115528_2115556del" "" "pathogenic (dominant)" "" "0000671519" "0" "30" "16" "2165554" "2165554" "subst" "0" "00006" "PKD1_002636" "g.2165554A>G" "" "{PKDdb:PKD1;M641T;2220}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115553A>G" "" "likely benign" "" "0000671520" "0" "90" "16" "2165549" "2165550" "del" "0" "00006" "PKD1_002635" "g.2165549_2165550del" "" "{PKDdb:PKD1;1926_1927delAG;259}" "" "1926_1927delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115548_2115549del" "" "pathogenic (dominant)" "" "0000671521" "0" "90" "16" "2165546" "2165546" "subst" "0" "00006" "PKD1_002634" "g.2165546C>A" "" "{PKDdb:PKD1;G644X;2331}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115545C>A" "" "pathogenic (dominant)" "" "0000671522" "0" "30" "16" "2165534" "2165534" "subst" "1.8158E-5" "00006" "PKD1_002633" "g.2165534G>A" "" "{PKDdb:PKD1;P648S;1627}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115533G>A" "" "likely benign" "" "0000671523" "0" "30" "16" "2165512" "2165512" "subst" "7.14558E-5" "00006" "PKD1_002631" "g.2165512G>A" "" "{PKDdb:PKD1;P655L;1628}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115511G>A" "" "likely benign" "" "0000671524" "0" "70" "16" "2165509" "2165509" "subst" "0.000125036" "00006" "PKD1_002630" "g.2165509A>T" "" "{PKDdb:PKD1;L656Q;1530}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115508A>T" "" "likely pathogenic (dominant)" "" "0000671525" "0" "50" "16" "2165504" "2165504" "subst" "4.56444E-5" "00006" "PKD1_002629" "g.2165504C>T" "" "{PKDdb:PKD1;A658T;2221}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115503C>T" "" "VUS" "" "0000671526" "0" "90" "16" "2165493" "2165493" "del" "0" "00006" "PKD1_002627" "g.2165493del" "" "{PKDdb:PKD1;1987delC;263}" "" "1987delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115492del" "" "pathogenic (dominant)" "" "0000671527" "0" "90" "16" "2165489" "2165489" "subst" "0" "00006" "PKD1_002628" "g.2165489G>A" "" "{PKDdb:PKD1;Q663X;1742}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115488G>A" "" "pathogenic (dominant)" "" "0000671528" "0" "30" "16" "2165480" "2165480" "subst" "0" "00006" "PKD1_000856" "g.2165480C>T" "" "{PKDdb:PKD1;A666T;848}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115479C>T" "" "likely benign" "" "0000671529" "0" "90" "16" "2165462" "2165462" "dup" "0" "00006" "PKD1_002626" "g.2165462dup" "" "{PKDdb:PKD1;2016_2017insG;266}" "" "2016_2017insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115461dup" "" "pathogenic (dominant)" "" "0000671530" "0" "90" "16" "2165452" "2165461" "dup" "0" "00006" "PKD1_002625" "g.2165452_2165461dup" "" "{PKDdb:PKD1;2024_2025ins10;269}" "" "2024_2025insGGCCAGGGCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115451_2115460dup" "" "pathogenic (dominant)" "" "0000671531" "0" "90" "16" "2165438" "2165438" "del" "0" "00006" "PKD1_002624" "g.2165438del" "" "{PKDdb:PKD1;2038delT;2332}" "" "2038delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115437del" "" "pathogenic (dominant)" "" "0000671532" "0" "30" "16" "2165437" "2165437" "subst" "0.000937914" "00006" "PKD1_001100" "g.2165437T>A" "" "{PKDdb:PKD1;Y680F;2197}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115436T>A" "" "likely benign" "" "0000671533" "0" "70" "16" "2165423" "2165423" "subst" "0" "00006" "PKD1_002623" "g.2165423C>T" "" "{PKDdb:PKD1;E685K;2537}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115422C>T" "" "likely pathogenic (dominant)" "" "0000671534" "0" "90" "16" "2165426" "2165427" "del" "0" "00006" "PKD1_000242" "g.2165426_2165427del" "" "{PKDdb:PKD1;2054_2055delAG;275}" "" "2054_2055delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115425_2115426del" "" "pathogenic (dominant)" "" "0000671535" "0" "90" "16" "2165418" "2165418" "del" "0" "00006" "PKD1_002622" "g.2165418del" "" "{PKDdb:PKD1;2059delC;276}" "" "2059delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115417del" "" "pathogenic (dominant)" "" "0000671536" "0" "70" "16" "2165407" "2165407" "subst" "0" "00006" "PKD1_000241" "g.2165407A>T" "" "{PKDdb:PKD1;V690D;2091}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115406A>T" "" "likely pathogenic (dominant)" "" "0000671537" "0" "70" "16" "2165407" "2165407" "subst" "0" "00006" "PKD1_002621" "g.2165407A>C" "" "{PKDdb:PKD1;V690G;2092}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115406A>C" "" "likely pathogenic (dominant)" "" "0000671538" "0" "30" "16" "2165403" "2165403" "subst" "1.26974E-5" "00006" "PKD1_002620" "g.2165403G>A" "" "{PKDdb:PKD1;2073C%3ET;2282}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115402G>A" "" "likely benign" "" "0000671539" "0" "50" "16" "2165402" "2165402" "subst" "0.000265142" "00006" "PKD1_002619" "g.2165402C>T" "" "{PKDdb:PKD1;A692T;849}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115401C>T" "" "VUS" "" "0000671540" "0" "90" "16" "2165400" "2165400" "del" "0" "00006" "PKD1_000394" "g.2165400del" "" "{PKDdb:PKD1;2079delG;278}" "" "2079delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115399del" "" "pathogenic (dominant)" "" "0000671541" "0" "90" "16" "2165395" "2165396" "ins" "0" "00006" "PKD1_002618" "g.2165395_2165396insC" "" "{PKDdb:PKD1;2080_2081insG;279}" "" "2080_2081insG" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115394_2115395insC" "" "pathogenic (dominant)" "" "0000671542" "0" "30" "16" "2165394" "2165394" "subst" "2.09021E-5" "00006" "PKD1_002617" "g.2165394G>A" "" "{PKDdb:PKD1;2082C%3ET;280}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115393G>A" "" "likely benign" "" "0000671543" "0" "90" "16" "2165396" "2165396" "del" "0" "00006" "PKD1_000139" "g.2165396del" "" "{PKDdb:PKD1;2085delC;282}" "" "2085delC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115395del" "" "pathogenic (dominant)" "" "0000671544" "0" "90" "16" "2165396" "2165396" "dup" "0" "00006" "PKD1_000138" "g.2165396dup" "" "{PKDdb:PKD1;2085_2086insC;281}" "" "2085_2086insC" "definitely pathogenic in ADPKDdb; reported in 9 families in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115395dup" "" "pathogenic (dominant)" "" "0000671545" "0" "30" "16" "2165390" "2165390" "subst" "0.000246736" "00006" "PKD1_002616" "g.2165390C>T" "" "{PKDdb:PKD1;A696T;2222}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115389C>T" "" "likely benign" "" "0000671546" "0" "90" "16" "2165387" "2165387" "subst" "0" "00006" "PKD1_002615" "g.2165387G>A" "" "{PKDdb:PKD1;Q697X;1743}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2115386G>A" "" "pathogenic (dominant)" "" "0000671547" "0" "70" "16" "2165384" "2165384" "subst" "0" "00006" "PKD1_002614" "g.2165384A>C" "" "{PKDdb:PKD1;Y698D;2538}" "" "" "likely pathogenic in ADPKDdb; reported in 4 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115383A>C" "" "likely pathogenic (dominant)" "" "0000671548" "0" "90" "16" "2165378" "2165378" "subst" "0" "00006" "PKD1_002613" "g.2165378C>T" "" "{PKDdb:PKD1;IVS10~1G%3EA;1109}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115377C>T" "" "pathogenic (dominant)" "" "0000671549" "0" "90" "16" "2165358" "2165382" "del" "0" "00006" "PKD1_002612" "g.2165358_2165382del" "" "{PKDdb:PKD1;2096_IVS10~23del25;284}" "" "2096_2097+23del25" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2115357_2115381del" "" "pathogenic (dominant)" "" "0000671550" "0" "30" "16" "2164955" "2164955" "subst" "0.000280348" "00006" "PKD1_002611" "g.2164955C>T" "" "{PKDdb:PKD1;IVS10-29G%3EA;1111}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114954C>T" "" "likely benign" "" "0000671551" "0" "30" "16" "2164936" "2164936" "subst" "0.000429373" "00006" "PKD1_002610" "g.2164936G>A" "" "{PKDdb:PKD1;IVS10-10C%3ET;1110}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114935G>A" "" "likely benign" "" "0000671552" "0" "30" "16" "2164930" "2164930" "subst" "0" "00006" "PKD1_002609" "g.2164930T>C" "" "{PKDdb:PKD1;IVS10-4G%3EA;1113}" "" "2098-4G>A" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114929T>C" "" "likely benign" "" "0000671553" "0" "30" "16" "2164915" "2164915" "subst" "0.000745537" "00006" "PKD1_000755" "g.2164915G>A" "" "{PKDdb:PKD1;2109C%3ET;286}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114914G>A" "" "likely benign" "" "0000671554" "0" "90" "16" "2164911" "2164911" "subst" "0" "00006" "PKD1_000137" "g.2164911G>A" "" "{PKDdb:PKD1;Q705X;1744}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114910G>A" "" "pathogenic (dominant)" "" "0000671555" "0" "30" "16" "2164881" "2164881" "subst" "0" "00006" "PKD1_002608" "g.2164881C>A" "" "{PKDdb:PKD1;V715F;2093}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114880C>A" "" "likely benign" "" "0000671556" "0" "90" "16" "2164872" "2164872" "subst" "0" "00006" "PKD1_002607" "g.2164872G>A" "" "{PKDdb:PKD1;Q718X;1745}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114871G>A" "" "pathogenic (dominant)" "" "0000671557" "0" "30" "16" "2164848" "2164848" "subst" "5.846E-5" "00006" "PKD1_002606" "g.2164848G>A" "" "{PKDdb:PKD1;L726F;1533}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114847G>A" "" "likely benign" "" "0000671558" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PKDdb:PKD1;L727P;1534}" "" "" "highly likely pathogenic in ADPKDdb; reported in 20 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000671559" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_002605" "g.2164844A>T" "" "{PKDdb:PKD1;L727Q;1535}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114843A>T" "" "likely pathogenic (dominant)" "" "0000671560" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000494" "g.2164844A>C" "" "{PKDdb:PKD1;L727R;1536}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114843A>C" "" "likely pathogenic (dominant)" "" "0000671561" "0" "30" "16" "2164834" "2164834" "subst" "2.59587E-5" "00006" "PKD1_002604" "g.2164834C>T" "" "{PKDdb:PKD1;2190G%3EA;296}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114833C>T" "" "likely benign" "" "0000671562" "0" "30" "16" "2164832" "2164832" "subst" "0.000268148" "00006" "PKD1_001097" "g.2164832G>A" "" "{PKDdb:PKD1;P731L;1629}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114831G>A" "" "likely benign" "" "0000671563" "0" "90" "16" "2159222" "2164824" "delins" "0" "00006" "PKD1_002224" "g.2159222_2164824delinsGT" "" "{PKDdb:PKD1;EX11_EX15del5604;971}" "" "2200_5946del5604insAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109221_2114823delinsGT" "" "pathogenic (dominant)" "" "0000671564" "0" "30" "16" "2164810" "2164810" "subst" "0.0063716" "00006" "PKD1_002603" "g.2164810G>C" "" "{PKDdb:PKD1;2214C%3EG;298}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114809G>C" "" "likely benign" "" "0000671565" "0" "90" "16" "2164812" "2164819" "dup" "0" "00006" "PKD1_002602" "g.2164812_2164819dup" "" "{PKDdb:PKD1;2215_2216ins8;2333}" "" "2215_2216insTGGTCCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114811_2114818dup" "" "pathogenic (dominant)" "" "0000671566" "0" "30" "16" "2164808" "2164808" "subst" "0" "00006" "PKD1_002601" "g.2164808T>C" "" "{PKDdb:PKD1;Q739R;1746}" "" "" "reported in 9 papers\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2114807T>C" "" "likely benign" "" "0000671567" "0" "30" "16" "2164802" "2164802" "subst" "4.97282E-5" "00006" "PKD1_002600" "g.2164802G>A" "" "{PKDdb:PKD1;P741L;1630}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114801G>A" "" "likely benign" "" "0000671568" "0" "30" "16" "2164797" "2164797" "subst" "8.12401E-6" "00006" "PKD1_002599" "g.2164797G>A" "" "{PKDdb:PKD1;L743F;1539}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114796G>A" "" "likely benign" "" "0000671569" "0" "30" "16" "2164789" "2164789" "subst" "0.00115064" "00006" "PKD1_001096" "g.2164789G>C" "" "{PKDdb:PKD1;2235C%3EG;299}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114788G>C" "" "likely benign" "" "0000671570" "0" "30" "16" "2164785" "2164785" "subst" "3.19433E-5" "00006" "PKD1_002598" "g.2164785C>T" "" "{PKDdb:PKD1;A747T;850}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114784C>T" "" "likely benign" "" "0000671571" "0" "30" "16" "2164780" "2164780" "subst" "1.58123E-5" "00006" "PKD1_002596" "g.2164780C>T" "" "{PKDdb:PKD1;2244G%3EA;301}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114779C>T" "" "likely benign" "" "0000671572" "0" "30" "16" "2164780" "2164780" "subst" "0.000648303" "00006" "PKD1_002597" "g.2164780C>G" "" "{PKDdb:PKD1;2244G%3EC;302}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114779C>G" "" "likely benign" "" "0000671573" "0" "90" "16" "2164778" "2164778" "subst" "0" "00006" "PKD1_000136" "g.2164778G>C" "" "{PKDdb:PKD1;S749X;1983}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114777G>C" "" "pathogenic (dominant)" "" "0000671574" "0" "50" "16" "2164760" "2164760" "subst" "0" "00006" "PKD1_002595" "g.2164760G>A" "" "{PKDdb:PKD1;P755L;1631}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114759G>A" "" "VUS" "" "0000671575" "0" "90" "16" "2164755" "2164755" "subst" "0" "00006" "PKD1_002594" "g.2164755G>A" "" "{PKDdb:PKD1;Q757X;1748}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114754G>A" "" "pathogenic (dominant)" "" "0000671576" "0" "50" "16" "2164730" "2164730" "subst" "0" "00006" "PKD1_002593" "g.2164730G>A" "" "{PKDdb:PKD1;P765L;1632}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114729G>A" "" "VUS" "" "0000671577" "0" "90" "16" "2164724" "2164734" "del" "0" "00006" "PKD1_000493" "g.2164724_2164734del" "" "{PKDdb:PKD1;2298_2308del11;303}" "" "2298_2308del11" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114723_2114733del" "" "pathogenic (dominant)" "" "0000671578" "0" "90" "16" "2164716" "2164716" "del" "0" "00006" "PKD1_002592" "g.2164716del" "" "{PKDdb:PKD1;2308delC;304}" "" "2308delC (Arg770fs27X)" "variant description not correct; definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114715del" "" "pathogenic (dominant)" "" "0000671579" "0" "30" "16" "2164705" "2164705" "subst" "7.58035E-6" "00006" "PKD1_002591" "g.2164705T>C" "" "{PKDdb:PKD1;2319A%3EG;305}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114704T>C" "" "likely benign" "" "0000671580" "0" "90" "16" "2164699" "2164699" "del" "0" "00006" "PKD1_002590" "g.2164699del" "" "{PKDdb:PKD1;2326delG;306}" "" "2326delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114698del" "" "pathogenic (dominant)" "" "0000671581" "0" "30" "16" "2164686" "2164686" "subst" "0" "00006" "PKD1_002589" "g.2164686C>T" "" "{PKDdb:PKD1;V780M;2094}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114685C>T" "" "likely benign" "" "0000671582" "0" "70" "16" "2164637" "2164637" "subst" "0" "00006" "PKD1_002588" "g.2164637T>C" "" "{PKDdb:PKD1;Y796C;2223}" "" "2387G>A" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114636T>C" "" "likely pathogenic (dominant)" "" "0000671583" "0" "50" "16" "2164628" "2164628" "subst" "0" "00006" "PKD1_002587" "g.2164628C>T" "" "{PKDdb:PKD1;R799Q;1899}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114627C>T" "" "VUS" "" "0000671584" "0" "30" "16" "2164593" "2164593" "subst" "0.000578765" "00006" "PKD1_002586" "g.2164593G>C" "" "{PKDdb:PKD1;L811V;1541}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114592G>C" "" "likely benign" "" "0000671585" "0" "30" "16" "2164591" "2164591" "subst" "9.01243E-5" "00006" "PKD1_002585" "g.2164591G>C" "" "{PKDdb:PKD1;2433C%3EG;2283}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114590G>C" "" "likely benign" "" "0000671586" "0" "90" "16" "2164590" "2164590" "del" "0" "00006" "PKD1_000492" "g.2164590del" "" "{PKDdb:PKD1;2434delT;312}" "" "2434delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114589del" "" "pathogenic (dominant)" "" "0000671587" "0" "30" "16" "2164585" "2164585" "subst" "0" "00006" "PKD1_002584" "g.2164585G>A" "" "{PKDdb:PKD1;2439C%3ET;314}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114584G>A" "" "likely benign" "" "0000671588" "0" "30" "16" "2164576" "2164576" "subst" "4.69114E-5" "00006" "PKD1_002583" "g.2164576G>A" "" "{PKDdb:PKD1;2448C%3ET;2284}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114575G>A" "" "likely benign" "" "0000671589" "0" "30" "16" "2164555" "2164555" "subst" "0" "00006" "PKD1_002582" "g.2164555C>T" "" "{PKDdb:PKD1;2469G%3EA;316}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114554C>T" "" "likely benign" "" "0000671590" "0" "90" "16" "2164547" "2164551" "dup" "0" "00006" "PKD1_000392" "g.2164547_2164551dup" "" "{PKDdb:PKD1;2477_2478ins5;317}" "" "2477_2478insCGGGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114546_2114550dup" "" "pathogenic (dominant)" "" "0000671591" "0" "90" "16" "2164540" "2164540" "subst" "0" "00006" "PKD1_002581" "g.2164540G>T" "" "{PKDdb:PKD1;Y828X;2200}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114539G>T" "" "pathogenic (dominant)" "" "0000671592" "0" "50" "16" "2164538" "2164538" "subst" "0" "00006" "PKD1_002580" "g.2164538G>A" "" "{PKDdb:PKD1;P829L;1633}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114537G>A" "" "VUS" "" "0000671593" "0" "90" "16" "2164537" "2164537" "dup" "0" "00006" "PKD1_002579" "g.2164537dup" "" "{PKDdb:PKD1;2487_2488insT;2560}" "" "2487_2488insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114536dup" "" "pathogenic (dominant)" "" "0000671594" "0" "90" "16" "2164535" "2164535" "del" "0" "00006" "PKD1_002577" "g.2164535del" "" "{PKDdb:PKD1;2494delC;319}" "" "2494delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114534del" "" "pathogenic (dominant)" "" "0000671595" "0" "90" "16" "2164535" "2164535" "dup" "0" "00006" "PKD1_000794" "g.2164535dup" "" "{PKDdb:PKD1;2494_2495insC;318}" "" "2494_2495insC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114534dup" "" "pathogenic (dominant)" "" "0000671596" "0" "50" "16" "2164530" "2164530" "subst" "9.40185E-6" "00006" "PKD1_002578" "g.2164530G>T" "" "{PKDdb:PKD1;R832G;1905}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114529G>T" "" "VUS" "" "0000671597" "0" "30" "16" "2164526" "2164526" "subst" "0" "00006" "PKD1_002576" "g.2164526T>C" "" "{PKDdb:PKD1;D833G;899}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114525T>C" "" "likely benign" "" "0000671598" "0" "30" "16" "2164520" "2164520" "subst" "9.32592E-6" "00006" "PKD1_002575" "g.2164520C>T" "" "{PKDdb:PKD1;R835H;1906}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114519C>T" "" "likely benign" "" "0000671599" "0" "30" "16" "2164516" "2164516" "subst" "4.57586E-6" "00006" "PKD1_002574" "g.2164516G>A" "" "{PKDdb:PKD1;2508C%3ET;2285}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114515G>A" "" "likely benign" "" "0000671600" "0" "30" "16" "2164509" "2164509" "subst" "0.000671123" "00006" "PKD1_002573" "g.2164509G>A" "" "{PKDdb:PKD1;P839S;1634}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114508G>A" "" "likely benign" "" "0000671601" "0" "30" "16" "2164501" "2164501" "subst" "3.56528E-5" "00006" "PKD1_002572" "g.2164501G>A" "" "{PKDdb:PKD1;2523C%3ET;322}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114500G>A" "" "likely benign" "" "0000671602" "0" "30" "16" "2164497" "2164497" "subst" "0.000634163" "00006" "PKD1_002571" "g.2164497A>G" "" "{PKDdb:PKD1;S843P;1987}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114496A>G" "" "likely benign" "" "0000671603" "0" "70" "16" "2164490" "2164490" "subst" "4.40975E-6" "00006" "PKD1_000053" "g.2164490A>G" "" "{PKDdb:PKD1;L845S;1542}" "" "" "highly likely pathogenic in ADPKDdb; reported in 9 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114489A>G" "" "likely pathogenic (dominant)" "" "0000671604" "0" "90" "16" "2164482" "2164482" "subst" "0" "00006" "PKD1_000491" "g.2164482G>A" "" "{PKDdb:PKD1;Q848X;1749}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114481G>A" "" "pathogenic (dominant)" "" "0000671605" "0" "30" "16" "2164476" "2164476" "subst" "6.15239E-5" "00006" "PKD1_002570" "g.2164476C>T" "" "{PKDdb:PKD1;D850N;900}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114475C>T" "" "likely benign" "" "0000671606" "0" "90" "16" "2164442" "2164442" "subst" "0" "00006" "PKD1_002569" "g.2164442C>T" "" "{PKDdb:PKD1;W861X;2334}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114441C>T" "" "pathogenic (dominant)" "" "0000671607" "0" "90" "16" "2164408" "2164409" "ins" "0" "00006" "PKD1_002568" "g.2164408_2164409insN[20]" "" "{PKDdb:PKD1;2615_2616ins20;2335}" "" "2615_2616ins20" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114407_2114408insN[20]" "" "pathogenic (dominant)" "" "0000671608" "0" "90" "16" "2164406" "2164406" "delins" "0" "00006" "PKD1_000258" "g.2164406delinsGG" "" "{PKDdb:PKD1;2618delTinsCC;326}" "" "2618delTinsCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114405delinsGG" "" "pathogenic (dominant)" "" "0000671609" "0" "90" "16" "2164405" "2164408" "del" "0" "00006" "PKD1_002565" "g.2164405_2164408del" "" "{PKDdb:PKD1;2618_2621del4;325}" "" "2618_2621delTCTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114404_2114407del" "" "pathogenic (dominant)" "" "0000671610" "0" "30" "16" "2164406" "2164406" "subst" "4.23438E-6" "00006" "PKD1_002567" "g.2164406A>G" "" "{PKDdb:PKD1;V873A;2224}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114405A>G" "" "likely benign" "" "0000671611" "0" "90" "16" "2164405" "2164405" "dup" "0" "00006" "PKD1_002566" "g.2164405dup" "" "{PKDdb:PKD1;2619_2620insC;2225}" "" "2619_2620insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114404dup" "" "pathogenic (dominant)" "" "0000671612" "0" "90" "16" "2164402" "2164402" "subst" "0" "00006" "PKD1_000391" "g.2164402G>T" "" "{PKDdb:PKD1;C874X;885}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114401G>T" "" "pathogenic (dominant)" "" "0000671613" "0" "30" "16" "2164380" "2164380" "subst" "0.000141741" "00006" "PKD1_002564" "g.2164380C>T" "" "{PKDdb:PKD1;V882M;2095}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114379C>T" "" "likely benign" "" "0000671614" "0" "30" "16" "2164369" "2164369" "subst" "0.000920711" "00006" "PKD1_001095" "g.2164369G>A" "" "{PKDdb:PKD1;2655C%3ET;327}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114368G>A" "" "likely benign" "" "0000671615" "0" "90" "16" "2164369" "2164388" "dup" "0" "00006" "PKD1_002563" "g.2164369_2164388dup" "" "{PKDdb:PKD1;2657_2658ins20;2226}" "" "2657_2658insACCTTCGTGCCCGGCTGCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114368_2114387dup" "" "pathogenic (dominant)" "" "0000671616" "0" "30" "16" "2164354" "2164354" "subst" "0.000696614" "00006" "PKD1_002562" "g.2164354G>A" "" "{PKDdb:PKD1;2670C%3ET;328}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114353G>A" "" "likely benign" "" "0000671617" "0" "90" "16" "2164350" "2164350" "dup" "0" "00006" "PKD1_002561" "g.2164350dup" "" "{PKDdb:PKD1;2674_2675insA;2561}" "" "2674_2675insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114349dup" "" "pathogenic (dominant)" "" "0000671618" "0" "90" "16" "2164339" "2164340" "del" "0" "00006" "PKD1_002560" "g.2164339_2164340del" "" "{PKDdb:PKD1;2684_2685delCA;2336}" "" "2684_2685delCA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114338_2114339del" "" "pathogenic (dominant)" "" "0000671619" "0" "90" "16" "2164337" "2164337" "dup" "0" "00006" "PKD1_000390" "g.2164337dup" "" "{PKDdb:PKD1;2687_2688insT;329}" "" "2687_2688insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114336dup" "" "pathogenic (dominant)" "" "0000671620" "0" "30" "16" "2164330" "2164330" "subst" "0.0129262" "00006" "PKD1_000752" "g.2164330T>G" "" "{PKDdb:PKD1;2694A%3EC;330}" "" "" "reported in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114329T>G" "" "likely benign" "" "0000671621" "0" "90" "16" "2164326" "2164326" "dup" "0" "00006" "PKD1_002559" "g.2164326dup" "" "{PKDdb:PKD1;2699_2700insC;2562}" "" "2699_2700insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114325dup" "" "pathogenic (dominant)" "" "0000671622" "0" "30" "16" "2164324" "2164324" "subst" "0.0552375" "00006" "PKD1_000751" "g.2164324C>T" "" "{PKDdb:PKD1;2700G%3EA;331}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114323C>T" "" "likely benign" "" "0000671623" "0" "30" "16" "2164317" "2164317" "subst" "0.000294864" "00006" "PKD1_002558" "g.2164317T>C" "" "{PKDdb:PKD1;S903G;1988}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114316T>C" "" "likely benign" "" "0000671624" "0" "30" "16" "2164305" "2164305" "subst" "4.09363E-6" "00006" "PKD1_002557" "g.2164305G>A" "" "{PKDdb:PKD1;H907Y;1089}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114304G>A" "" "likely benign" "" "0000671625" "0" "70" "16" "2164296" "2164304" "del" "0" "00006" "PKD1_000389" "g.2164296_2164304del" "" "{PKDdb:PKD1;D910_V912del3;902}" "" "D910_V912del3" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114295_2114303del" "" "likely pathogenic (dominant)" "" "0000671626" "0" "30" "16" "2164294" "2164294" "subst" "0.0551443" "00006" "PKD1_000750" "g.2164294G>A" "" "{PKDdb:PKD1;2730C%3ET;333}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114293G>A" "" "likely benign" "" "0000671627" "0" "30" "16" "2164269" "2164269" "subst" "5.36884E-5" "00006" "PKD1_002556" "g.2164269G>A" "" "{PKDdb:PKD1;R919W;1912}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114268G>A" "" "likely benign" "" "0000671628" "0" "50" "16" "2164245" "2164245" "subst" "3.36839E-5" "00006" "PKD1_002555" "g.2164245T>C" "" "{PKDdb:PKD1;T927A;2030}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114244T>C" "" "VUS" "" "0000671629" "0" "50" "16" "2164244" "2164244" "subst" "2.95431E-5" "00006" "PKD1_002554" "g.2164244G>A" "" "{PKDdb:PKD1;T927M;2227}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114243G>A" "" "VUS" "" "0000671630" "0" "30" "16" "2164240" "2164240" "subst" "1.27304E-5" "00006" "PKD1_002553" "g.2164240C>T" "" "{PKDdb:PKD1;2784G%3EA;335}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114239C>T" "" "likely benign" "" "0000671631" "0" "30" "16" "2164216" "2164216" "subst" "0.000336885" "00006" "PKD1_002552" "g.2164216G>A" "" "{PKDdb:PKD1;2808C%3ET;336}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114215G>A" "" "likely benign" "" "0000671632" "0" "30" "16" "2164210" "2164210" "subst" "3.3763E-5" "00006" "PKD1_002551" "g.2164210C>T" "" "{PKDdb:PKD1;2814G%3EA;338}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114209C>T" "" "likely benign" "" "0000671633" "0" "70" "16" "2164209" "2164209" "subst" "0" "00006" "PKD1_002550" "g.2164209G>C" "" "{PKDdb:PKD1;P939A;1635}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114208G>C" "" "likely pathogenic (dominant)" "" "0000671634" "0" "30" "16" "2164195" "2164195" "subst" "6.35238E-5" "00006" "PKD1_002549" "g.2164195G>C" "" "{PKDdb:PKD1;2829C%3EG;339}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114194G>C" "" "likely benign" "" "0000671635" "0" "70" "16" "2164194" "2164194" "subst" "8.48104E-6" "00006" "PKD1_002548" "g.2164194G>A" "" "{PKDdb:PKD1;R944C;1913}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114193G>A" "" "likely pathogenic (dominant)" "" "0000671636" "0" "90" "16" "2164192" "2164193" "del" "0" "00006" "PKD1_002547" "g.2164192_2164193del" "" "{PKDdb:PKD1;2833_2834delGT;2337}" "" "2833_2834delGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114191_2114192del" "" "pathogenic (dominant)" "" "0000671637" "0" "90" "16" "2164185" "2164185" "subst" "0" "00006" "PKD1_002546" "g.2164185G>A" "" "{PKDdb:PKD1;Q947X;2338}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114184G>A" "" "pathogenic (dominant)" "" "0000671638" "0" "90" "16" "2164184" "2164184" "dup" "0" "00006" "PKD1_002545" "g.2164184dup" "" "{PKDdb:PKD1;2840_2841insA;2563}" "" "2840_2841insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114183dup" "" "pathogenic (dominant)" "" "0000671639" "0" "90" "16" "2164170" "2164170" "subst" "0" "00006" "PKD1_002544" "g.2164170C>T" "" "{PKDdb:PKD1;IVS11~1G%3EA;1115}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114169C>T" "" "pathogenic (dominant)" "" "0000671640" "0" "30" "16" "2164148" "2164148" "subst" "0.00523125" "00006" "PKD1_002543" "g.2164148G>A" "" "{PKDdb:PKD1;IVS11~23C%3ET;1117}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114147G>A" "" "likely benign" "" "0000671641" "0" "30" "16" "2164145" "2164145" "subst" "2.24707E-5" "00006" "PKD1_002542" "g.2164145G>A" "" "{PKDdb:PKD1;IVS11~26C%3ET;1118}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114144G>A" "" "likely benign" "" "0000671642" "0" "30" "16" "2164110" "2164110" "subst" "0" "00006" "PKD1_002541" "g.2164110T>G" "" "{PKDdb:PKD1;IVS11~61A%3EC;1120}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2114109T>G" "" "likely benign" "" "0000671643" "0" "30" "16" "2164109" "2164109" "subst" "0" "00006" "PKD1_002540" "g.2164109G>A" "" "{PKDdb:PKD1;IVS11~62C%3ET;1121}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2114108G>A" "" "likely benign" "" "0000671644" "0" "90" "16" "2145157" "2163814" "del" "0" "00006" "PKD1_001549" "g.2145157_2163814del" "" "{PKDdb:PKD1;IVS11~357_IVS34~1992del21kb;1119}" "" "IVS11+357_IVS34+1992del 21kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2095156_2113813del" "" "pathogenic (dominant)" "" "0000671645" "0" "50" "16" "2163302" "2163302" "subst" "8.79078E-5" "00006" "PKD1_002539" "g.2163302G>T" "" "{PKDdb:PKD1;IVS11-9C%3EA;1130}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113301G>T" "" "VUS" "" "0000671646" "0" "50" "16" "2163300" "2163300" "subst" "0" "00006" "PKD1_002538" "g.2163300G>T" "" "{PKDdb:PKD1;IVS11-7C%3EA;1129}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113299G>T" "" "VUS" "" "0000671647" "0" "30" "16" "2163298" "2163298" "subst" "0.00855555" "00006" "PKD1_000854" "g.2163298G>A" "" "{PKDdb:PKD1;IVS11-5C%3ET;1126}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2113297G>A" "" "likely benign" "" "0000671648" "0" "90" "16" "2163295" "2163295" "subst" "0" "00006" "PKD1_002537" "g.2163295T>C" "" "{PKDdb:PKD1;IVS11-2A%3EG;2340}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113294T>C" "" "pathogenic (dominant)" "" "0000671649" "0" "90" "16" "2163294" "2163294" "subst" "0" "00006" "PKD1_002535" "g.2163294C>T" "" "{PKDdb:PKD1;IVS11-1G%3EA;2339}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113293C>T" "" "pathogenic (dominant)" "" "0000671650" "0" "90" "16" "2163294" "2163294" "subst" "0" "00006" "PKD1_002536" "g.2163294C>A" "" "{PKDdb:PKD1;IVS11-1G%3ET;1123}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113293C>A" "" "pathogenic (dominant)" "" "0000671651" "0" "30" "16" "2163291" "2163291" "subst" "0" "00006" "PKD1_002534" "g.2163291C>T" "" "{PKDdb:PKD1;2856G%3EA;342}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113290C>T" "" "likely benign" "" "0000671652" "0" "90" "16" "2163288" "2163288" "subst" "0" "00006" "PKD1_002533" "g.2163288G>C" "" "{PKDdb:PKD1;Y953X;2341}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113287G>C" "" "pathogenic (dominant)" "" "0000671653" "0" "90" "16" "2163285" "2163285" "del" "0" "00006" "PKD1_002532" "g.2163285del" "" "{PKDdb:PKD1;2865delC;2342}" "" "2865delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113284del" "" "pathogenic (dominant)" "" "0000671654" "0" "70" "16" "2163268" "2163268" "subst" "0" "00006" "PKD1_002531" "g.2163268C>T" "" "{PKDdb:PKD1;G960D;2310}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113267C>T" "" "likely pathogenic (dominant)" "" "0000671655" "0" "70" "16" "2163262" "2163262" "subst" "0" "00006" "PKD1_002530" "g.2163262T>C" "" "{PKDdb:PKD1;D962G;904}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113261T>C" "" "likely pathogenic (dominant)" "" "0000671656" "0" "70" "16" "2163248" "2163248" "subst" "0" "00006" "PKD1_000158" "g.2163248A>G" "" "{PKDdb:PKD1;W967R;2155}" "" "" "highly likely pathogenic in ADPKDdb; reported in 4 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2113247A>G" "" "likely pathogenic (dominant)" "" "0000671657" "0" "30" "16" "2163237" "2163237" "subst" "6.92956E-5" "00006" "PKD1_002528" "g.2163237G>A" "" "{PKDdb:PKD1;2910C%3ET;344}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113236G>A" "" "likely benign" "" "0000671658" "0" "50" "16" "2163237" "2163237" "subst" "5.33043E-6" "00006" "PKD1_002529" "g.2163237G>T" "" "{PKDdb:PKD1;N970K;1583}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113236G>T" "" "VUS" "" "0000671659" "0" "70" "16" "2163191" "2163193" "del" "0" "00006" "PKD1_002527" "g.2163191_2163193del" "" "{PKDdb:PKD1;I985del;Y986N;2589}" "" "2954_2956delTTT" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113190_2113192del" "" "likely pathogenic (dominant)" "" "0000671660" "0" "90" "16" "2163189" "2163189" "subst" "0" "00006" "PKD1_002526" "g.2163189A>C" "" "{PKDdb:PKD1;Y986X;2343}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113188A>C" "" "pathogenic (dominant)" "" "0000671661" "0" "90" "16" "2163188" "2163188" "subst" "0" "00006" "PKD1_002525" "g.2163188G>A" "" "{PKDdb:PKD1;Q987X;1752}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113187G>A" "" "pathogenic (dominant)" "" "0000671662" "0" "50" "16" "2163186" "2163186" "subst" "0" "00006" "PKD1_000217" "g.2163186C>A" "" "{PKDdb:PKD1;Q987H;1751}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113185C>A" "" "VUS" "" "0000671663" "0" "90" "16" "2163186" "2163187" "del" "0" "00006" "PKD1_002524" "g.2163186_2163187del" "" "{PKDdb:PKD1;2962_2963delAG;2344}" "" "2962_2963delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113185_2113186del" "" "pathogenic (dominant)" "" "0000671664" "0" "90" "16" "2163180" "2163184" "del" "0" "00006" "PKD1_002521" "g.2163180_2163184del" "" "{PKDdb:PKD1;2966_2970del5;345}" "" "2966_2970delCGGCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2113179_2113183del" "" "pathogenic (dominant)" "" "0000671665" "0" "90" "16" "2163178" "2163179" "delins" "0" "00006" "PKD1_002522" "g.2163178_2163179delinsA" "" "{PKDdb:PKD1;2968_2969delGCinsT;2345}" "" "2968_2969delGCinsT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113177_2113178delinsA" "" "pathogenic (dominant)" "" "0000671666" "0" "30" "16" "2163178" "2163179" "delins" "0" "00006" "PKD1_002523" "g.2163178_2163179delinsAG" "" "{PKDdb:PKD1;A990L;853}" "" "2968G>C+2969C>T" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113177_2113178delinsAG" "" "likely benign" "" "0000671667" "0" "90" "16" "2163178" "2163179" "dup" "0" "00006" "PKD1_002520" "g.2163178_2163179dup" "" "{PKDdb:PKD1;2970_2971insCG;2564}" "" "2970_2971insCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113177_2113178dup" "" "pathogenic (dominant)" "" "0000671668" "0" "90" "16" "2163177" "2163177" "del" "0" "00006" "PKD1_000490" "g.2163177del" "" "{PKDdb:PKD1;2971delG;346}" "" "2971delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113176del" "" "pathogenic (dominant)" "" "0000671669" "0" "50" "16" "2163175" "2163175" "subst" "0" "00006" "PKD1_002519" "g.2163175A>C" "" "{PKDdb:PKD1;V991G;2097}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113174A>C" "" "VUS" "" "0000671670" "0" "50" "16" "2163158" "2163161" "dup" "0" "00006" "PKD1_002514" "g.2163158_2163161dup" "" "{PKDdb:PKD1;2985_IVS12~1ins4;347}" "" "2985_IVS12+1insGTAG" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113157_2113160dup" "" "VUS" "" "0000671671" "0" "90" "16" "2163161" "2163161" "subst" "0" "00006" "PKD1_002518" "g.2163161C>T" "" "{PKDdb:PKD1;IVS12~1G%3EA;2346}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113160C>T" "" "pathogenic (dominant)" "" "0000671672" "0" "90" "16" "2163160" "2163160" "subst" "0" "00006" "PKD1_002517" "g.2163160A>T" "" "{PKDdb:PKD1;IVS12~2T%3EA;2347}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113159A>T" "" "pathogenic (dominant)" "" "0000671673" "0" "30" "16" "2163158" "2163158" "subst" "0" "00006" "PKD1_002516" "g.2163158C>T" "" "{PKDdb:PKD1;IVS12~4G%3EA;1133}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113157C>T" "" "likely benign" "" "0000671674" "0" "50" "16" "2163157" "2163157" "subst" "0" "00006" "PKD1_002515" "g.2163157C>T" "" "{PKDdb:PKD1;IVS12~5G%3EA;1134}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113156C>T" "" "VUS" "" "0000671675" "0" "30" "16" "2163141" "2163145" "dup" "0" "00006" "PKD1_002513" "g.2163141_2163145dup" "" "{PKDdb:PKD1;IVS12~31ins5;1132}" "" "2985+31insGGGGA" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113140_2113144dup" "" "likely benign" "" "0000671676" "0" "30" "16" "2163004" "2163004" "subst" "3.84149E-5" "00006" "PKD1_002512" "g.2163004G>A" "" "{PKDdb:PKD1;IVS12-40C%3ET;1136}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2113003G>A" "" "likely benign" "" "0000671677" "0" "30" "16" "2162979" "2162979" "subst" "0.0545762" "00006" "PKD1_002511" "g.2162979G>A" "" "{PKDdb:PKD1;IVS12-15C%3ET;1135}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112978G>A" "" "likely benign" "" "0000671678" "0" "30" "16" "2162947" "2162947" "subst" "0.000151244" "00006" "PKD1_002510" "g.2162947G>A" "" "{PKDdb:PKD1;3003C%3ET;348}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112946G>A" "" "likely benign" "" "0000671679" "0" "30" "16" "2162944" "2162944" "subst" "0.00119089" "00006" "PKD1_002509" "g.2162944C>G" "" "{PKDdb:PKD1;3006G%3EC;349}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112943C>G" "" "likely benign" "" "0000671680" "0" "90" "16" "2162938" "2162941" "del" "0" "00006" "PKD1_000061" "g.2162938_2162941del" "" "{PKDdb:PKD1;3009_3012del4;350}" "" "3009_3012delCAAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112937_2112940del" "" "pathogenic (dominant)" "" "0000671681" "0" "30" "16" "2162935" "2162935" "subst" "0" "00006" "PKD1_002508" "g.2162935G>A" "" "{PKDdb:PKD1;3015C%3ET;351}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112934G>A" "" "likely benign" "" "0000671682" "0" "90" "16" "2162925" "2162926" "ins" "0" "00006" "PKD1_002507" "g.2162925_2162926insN[18]" "" "{PKDdb:PKD1;N1008_Y1009ins6;1556}" "" "3024_3025ins18" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112924_2112925insN[18]" "" "pathogenic (dominant)" "" "0000671683" "0" "70" "16" "2162925" "2162927" "del" "0" "00006" "PKD1_002506" "g.2162925_2162927del" "" "{PKDdb:PKD1;Y1009del;2509}" "" "3025_3027delTAC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112924_2112926del" "" "likely pathogenic (dominant)" "" "0000671684" "0" "30" "16" "2162899" "2162899" "subst" "1.2368E-5" "00006" "PKD1_002505" "g.2162899G>A" "" "{PKDdb:PKD1;3051C%3ET;352}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112898G>A" "" "likely benign" "" "0000671685" "0" "90" "16" "2162892" "2162892" "subst" "0" "00006" "PKD1_000257" "g.2162892G>A" "" "{PKDdb:PKD1;Q1020X;1636}" "" "" "definitely pathogenic in ADPKDdb; reported in 5 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112891G>A" "" "pathogenic (dominant)" "" "0000671686" "0" "30" "16" "2162887" "2162887" "subst" "0.104178" "00006" "PKD1_000749" "g.2162887A>G" "" "{PKDdb:PKD1;3063T%3EC;353}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112886A>G" "" "likely benign" "" "0000671687" "0" "30" "16" "2162882" "2162882" "subst" "0" "00006" "PKD1_002504" "g.2162882T>C" "" "{PKDdb:PKD1;Q1023R;1637}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112881T>C" "" "likely benign" "" "0000671688" "0" "30" "16" "2162875" "2162875" "subst" "0" "00006" "PKD1_002503" "g.2162875G>A" "" "{PKDdb:PKD1;3075C%3ET;2286}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112874G>A" "" "likely benign" "" "0000671689" "0" "30" "16" "2162866" "2162866" "subst" "6.60666E-5" "00006" "PKD1_002502" "g.2162866C>T" "" "{PKDdb:PKD1;3084G%3EA;2287}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112865C>T" "" "likely benign" "" "0000671690" "0" "90" "16" "2162855" "2162855" "del" "0" "00006" "PKD1_002500" "g.2162855del" "" "{PKDdb:PKD1;3099delC;356}" "" "3099delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112854del" "" "pathogenic (dominant)" "" "0000671691" "0" "90" "16" "2162855" "2162855" "dup" "0" "00006" "PKD1_002501" "g.2162855dup" "" "{PKDdb:PKD1;3099_3100insC;355}" "" "3099_3100insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112854dup" "" "pathogenic (dominant)" "" "0000671692" "0" "30" "16" "2162849" "2162849" "subst" "9.5332E-5" "00006" "PKD1_002499" "g.2162849T>A" "" "{PKDdb:PKD1;N1034I;1559}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112848T>A" "" "likely benign" "" "0000671693" "0" "30" "16" "2162849" "2162849" "subst" "0.00144656" "00006" "PKD1_000853" "g.2162849T>C" "" "{PKDdb:PKD1;N1034S;1560}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112848T>C" "" "likely benign" "" "0000671694" "0" "30" "16" "2162842" "2162842" "subst" "0" "00006" "PKD1_002498" "g.2162842C>A" "" "{PKDdb:PKD1;3108G%3ET;357}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112841C>A" "" "likely benign" "" "0000671695" "0" "30" "16" "2162839" "2162839" "subst" "0.0380086" "00006" "PKD1_000747" "g.2162839T>C" "" "{PKDdb:PKD1;3111A%3EG;358}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112838T>C" "" "likely benign" "" "0000671696" "0" "30" "16" "2162837" "2162837" "subst" "2.08365E-5" "00006" "PKD1_002497" "g.2162837G>T" "" "{PKDdb:PKD1;A1038E;765}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112836G>T" "" "likely benign" "" "0000671697" "0" "30" "16" "2162836" "2162836" "subst" "0" "00006" "PKD1_002496" "g.2162836T>C" "" "{PKDdb:PKD1;3114A%3EG;2288}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112835T>C" "" "likely benign" "" "0000671698" "0" "70" "16" "2162829" "2162831" "del" "0" "00006" "PKD1_002495" "g.2162829_2162831del" "" "{PKDdb:PKD1;A1041del;766}" "" "3122_3124delCGG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112828_2112830del" "" "likely pathogenic (dominant)" "" "0000671699" "0" "90" "16" "2162827" "2162827" "del" "0" "00006" "PKD1_000105" "g.2162827del" "" "{PKDdb:PKD1;3125delG;359}" "" "3125delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112826del" "" "pathogenic (dominant)" "" "0000671700" "0" "50" "16" "2162817" "2162817" "subst" "8.4674E-6" "00006" "PKD1_000461" "g.2162817C>T" "" "{PKDdb:PKD1;V1045M;2032}" "" "" "likely hypomorphic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112816C>T" "" "VUS (!)" "" "0000671701" "0" "30" "16" "2162810" "2162810" "subst" "0.000246914" "00006" "PKD1_000303" "g.2162810G>A" "" "{PKDdb:PKD1;S1047L;1915}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112809G>A" "" "likely benign" "" "0000671702" "0" "50" "16" "2162789" "2162789" "subst" "0" "00006" "PKD1_002494" "g.2162789A>G" "" "{PKDdb:PKD1;L1054P;1460}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112788A>G" "" "VUS" "" "0000671703" "0" "30" "16" "2162492" "2162492" "subst" "0" "00006" "PKD1_002493" "g.2162492C>G" "" "{PKDdb:PKD1;IVS13-18G%3EC;2594}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112491C>G" "" "likely benign" "" "0000671704" "0" "90" "16" "2162476" "2162476" "subst" "0" "00006" "PKD1_002491" "g.2162476T>C" "" "{PKDdb:PKD1;IVS13-2A%3EG;1139}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112475T>C" "" "pathogenic (dominant)" "" "0000671705" "0" "90" "16" "2162476" "2162476" "subst" "0" "00006" "PKD1_002492" "g.2162476T>A" "" "{PKDdb:PKD1;IVS13-2A%3ET;1140}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112475T>A" "" "pathogenic (dominant)" "" "0000671706" "0" "70" "16" "2162461" "2162461" "subst" "0" "00006" "PKD1_002490" "g.2162461C>T" "" "{PKDdb:PKD1;D1059N;886}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112460C>T" "" "likely pathogenic (dominant)" "" "0000671707" "0" "30" "16" "2162453" "2162453" "subst" "0.00146763" "00006" "PKD1_001091" "g.2162453C>T" "" "{PKDdb:PKD1;3183G%3EA;360}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112452C>T" "" "likely benign" "" "0000671708" "0" "90" "16" "2162452" "2162452" "subst" "0" "00006" "PKD1_002489" "g.2162452G>A" "" "{PKDdb:PKD1;Q1062X;1638}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112451G>A" "" "pathogenic (dominant)" "" "0000671709" "0" "90" "16" "2162432" "2162447" "del" "0" "00006" "PKD1_002485" "g.2162432_2162447del" "" "{PKDdb:PKD1;3194_3209del16;361}" "" "3194_3209del16" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112431_2112446del" "" "pathogenic (dominant)" "" "0000671710" "0" "90" "16" "2162440" "2162440" "subst" "0" "00006" "PKD1_002488" "g.2162440G>A" "" "{PKDdb:PKD1;Q1066X;1639}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112439G>A" "" "pathogenic (dominant)" "" "0000671711" "0" "90" "16" "2162434" "2162434" "subst" "0" "00006" "PKD1_002487" "g.2162434G>A" "" "{PKDdb:PKD1;Q1068X;1640}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112433G>A" "" "pathogenic (dominant)" "" "0000671712" "0" "90" "16" "2162429" "2162429" "dup" "0" "00006" "PKD1_002486" "g.2162429dup" "" "{PKDdb:PKD1;3207_3208insT;362}" "" "3207_3208insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112428dup" "" "pathogenic (dominant)" "" "0000671713" "0" "90" "16" "2162393" "2162426" "del" "0" "00006" "PKD1_002480" "g.2162393_2162426del" "" "{PKDdb:PKD1;3212_3245del34;2348}" "" "3212_3245del34" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112392_2112425del" "" "pathogenic (dominant)" "" "0000671714" "0" "90" "16" "2162423" "2162423" "subst" "0" "00006" "PKD1_002484" "g.2162423G>C" "" "{PKDdb:PKD1;Y1071X;2349}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112422G>C" "" "pathogenic (dominant)" "" "0000671715" "0" "90" "16" "2162422" "2162422" "dup" "0" "00006" "PKD1_002483" "g.2162422dup" "" "{PKDdb:PKD1;3215_3216insA;2228}" "" "3215_3216insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112421dup" "" "pathogenic (dominant)" "" "0000671716" "0" "30" "16" "2162408" "2162408" "subst" "0.000330681" "00006" "PKD1_002482" "g.2162408C>T" "" "{PKDdb:PKD1;3228G%3EA;363}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112407C>T" "" "likely benign" "" "0000671717" "0" "90" "16" "2162394" "2162394" "dup" "0" "00006" "PKD1_002481" "g.2162394dup" "" "{PKDdb:PKD1;3241_3242insC;364}" "" "3241_3242insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112393dup" "" "pathogenic (dominant)" "" "0000671718" "0" "90" "16" "2162394" "2162394" "subst" "0" "00006" "PKD1_000387" "g.2162394G>T" "" "{PKDdb:PKD1;S1081X;1916}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112393G>T" "" "pathogenic (dominant)" "" "0000671719" "0" "90" "16" "2162386" "2162386" "subst" "0" "00006" "PKD1_002479" "g.2162386G>A" "" "{PKDdb:PKD1;Q1084X;1641}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112385G>A" "" "pathogenic (dominant)" "" "0000671720" "0" "90" "16" "2162379" "2162379" "dup" "0" "00006" "PKD1_002478" "g.2162379dup" "" "{PKDdb:PKD1;3257_3258insT;365}" "" "3257_3258insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112378dup" "" "pathogenic (dominant)" "" "0000671721" "0" "70" "16" "2162376" "2162376" "subst" "0" "00006" "PKD1_000670" "g.2162376A>C" "" "{PKDdb:PKD1;V1087G;2033}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112375A>C" "" "likely pathogenic (dominant)" "" "0000671722" "0" "90" "16" "2162349" "2162366" "del" "0" "00006" "PKD1_002475" "g.2162349_2162366del" "" "{PKDdb:PKD1;V1091_A1096del6;2034}" "" "V1091_A1096del6" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112348_2112365del" "" "pathogenic (dominant)" "" "0000671723" "0" "30" "16" "2162361" "2162361" "subst" "0.0706129" "00006" "PKD1_000746" "g.2162361A>G" "" "{PKDdb:PKD1;M1092T;1547}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112360A>G" "" "likely benign" "" "0000671724" "0" "50" "16" "2162359" "2162359" "subst" "0" "00006" "PKD1_002476" "g.2162359G>C" "" "{PKDdb:PKD1;H1093D;1065}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112358G>C" "" "VUS" "" "0000671725" "0" "30" "16" "2162359" "2162359" "subst" "0.000701678" "00006" "PKD1_002477" "g.2162359G>A" "" "{PKDdb:PKD1;H1093Y;1066}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2112358G>A" "" "likely benign" "" "0000671726" "0" "90" "16" "2162351" "2162351" "subst" "0" "00006" "PKD1_000386" "g.2162351G>C" "" "{PKDdb:PKD1;Y1095X;2156}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112350G>C" "" "pathogenic (dominant)" "" "0000671727" "0" "90" "16" "2162340" "2162340" "subst" "0" "00006" "PKD1_002473" "g.2162340C>T" "" "{PKDdb:PKD1;IVS14~1G%3EA;1142}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112339C>T" "" "pathogenic (dominant)" "" "0000671728" "0" "90" "16" "2162340" "2162340" "subst" "0" "00006" "PKD1_002474" "g.2162340C>G" "" "{PKDdb:PKD1;IVS14~1G%3EC;1143}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112339C>G" "" "pathogenic (dominant)" "" "0000671729" "0" "30" "16" "2162338" "2162338" "subst" "0" "00006" "PKD1_002472" "g.2162338C>A" "" "{PKDdb:PKD1;IVS14~3G%3ET;1144}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112337C>A" "" "likely benign" "" "0000671730" "0" "30" "16" "2162288" "2162288" "subst" "0" "00006" "PKD1_002471" "g.2162288C>A" "" "{PKDdb:PKD1;IVS14~53G%3ET;1145}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2112287C>A" "" "likely benign" "" "0000671731" "0" "30" "16" "2161887" "2161887" "subst" "0.00293832" "00006" "PKD1_000852" "g.2161887C>T" "" "{PKDdb:PKD1;IVS14-15G%3EA;1146}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111886C>T" "" "likely benign" "" "0000671732" "0" "70" "16" "2161875" "2161875" "subst" "0" "00006" "PKD1_002470" "g.2161875G>C" "" "{PKDdb:PKD1;IVS14-3C%3EG;2539}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111874G>C" "" "likely pathogenic (dominant)" "" "0000671733" "0" "90" "16" "2161874" "2161874" "subst" "0" "00006" "PKD1_002469" "g.2161874T>G" "" "{PKDdb:PKD1;IVS14-2A%3EC;1148}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111873T>G" "" "pathogenic (dominant)" "" "0000671734" "0" "90" "16" "2161873" "2161873" "subst" "0" "00006" "PKD1_002468" "g.2161873C>T" "" "{PKDdb:PKD1;IVS14-1G%3EA;1147}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111872C>T" "" "pathogenic (dominant)" "" "0000671735" "0" "90" "16" "2155322" "2161873" "del" "0" "00006" "PKD1_001928" "g.(2154644_2155322)_(2161873_2162340)del" "" "{PKDdb:PKD1;EX15_IVS21del7kb*;972}" "" "EX15_IVS21del 7kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2104643_2105321)_(2111872_2112339)del" "" "pathogenic (dominant)" "" "0000671736" "0" "30" "16" "2161864" "2161864" "subst" "0" "00006" "PKD1_002467" "g.2161864G>C" "" "{PKDdb:PKD1;L1102V;1461}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111863G>C" "" "likely benign" "" "0000671737" "0" "90" "16" "2161845" "2161854" "del" "0" "00006" "PKD1_002466" "g.2161845_2161854del" "" "{PKDdb:PKD1;3315_3324del10;2350}" "" "3315_3324del10" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111844_2111853del" "" "pathogenic (dominant)" "" "0000671738" "0" "30" "16" "2161852" "2161852" "subst" "0.00236035" "00006" "PKD1_001090" "g.2161852G>C" "" "{PKDdb:PKD1;L1106V;1462}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111851G>C" "" "likely benign" "" "0000671739" "0" "70" "16" "2161821" "2161823" "del" "0" "00006" "PKD1_002465" "g.2161821_2161823del" "" "{PKDdb:PKD1;Q1117del;2510}" "" "3349_3351delCAG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111820_2111822del" "" "likely pathogenic (dominant)" "" "0000671740" "0" "90" "16" "2161819" "2161819" "subst" "0" "00006" "PKD1_000256" "g.2161819G>A" "" "{PKDdb:PKD1;Q1117X;1642}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111818G>A" "" "pathogenic (dominant)" "" "0000671741" "0" "90" "16" "2161811" "2161812" "ins" "0" "00006" "PKD1_002464" "g.2161811_2161812insT" "" "{PKDdb:PKD1;3356_3357insA;2351}" "" "3356_3357insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111810_2111811insT" "" "pathogenic (dominant)" "" "0000671742" "0" "90" "16" "2161810" "2161811" "del" "0" "00006" "PKD1_000489" "g.2161810_2161811del" "" "{PKDdb:PKD1;3359_3360delTG;367}" "" "3359_3360delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111809_2111810del" "" "pathogenic (dominant)" "" "0000671743" "0" "30" "16" "2161796" "2161796" "subst" "0.0884395" "00006" "PKD1_000745" "g.2161796G>A" "" "{PKDdb:PKD1;3372C%3ET;368}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111795G>A" "" "likely benign" "" "0000671744" "0" "30" "16" "2161793" "2161793" "subst" "0.0882051" "00006" "PKD1_000744" "g.2161793G>A" "" "{PKDdb:PKD1;3375C%3ET;369}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111792G>A" "" "likely benign" "" "0000671745" "0" "30" "16" "2161788" "2161788" "subst" "0.000645004" "00006" "PKD1_000669" "g.2161788G>A" "" "{PKDdb:PKD1;P1127L;1584}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111787G>A" "" "likely benign" "" "0000671746" "0" "30" "16" "2161784" "2161784" "subst" "3.81288E-5" "00006" "PKD1_002463" "g.2161784G>A" "" "{PKDdb:PKD1;3384C%3ET;370}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111783G>A" "" "likely benign" "" "0000671747" "0" "30" "16" "2161762" "2161762" "subst" "2.62745E-5" "00006" "PKD1_002462" "g.2161762C>A" "" "{PKDdb:PKD1;G1136C;1004}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111761C>A" "" "likely benign" "" "0000671748" "0" "30" "16" "2161744" "2161744" "subst" "0.00320048" "00006" "PKD1_000668" "g.2161744G>A" "" "{PKDdb:PKD1;R1142W;1754}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111743G>A" "" "likely benign" "" "0000671749" "0" "90" "16" "2161748" "2161751" "del" "0" "00006" "PKD1_002460" "g.2161748_2161751del" "" "{PKDdb:PKD1;3425_3428del4;373}" "" "3425_3428delGGCC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111747_2111750del" "" "pathogenic (dominant)" "" "0000671750" "0" "30" "16" "2161743" "2161743" "subst" "0" "00006" "PKD1_002461" "g.2161743C>T" "" "{PKDdb:PKD1;R1142Q;1753}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111742C>T" "" "likely benign" "" "0000671751" "0" "90" "16" "2161739" "2161740" "ins" "0" "00006" "PKD1_002459" "g.2161739_2161740insN[4]" "" "{PKDdb:PKD1;3428_3429ins4;374}" "" "3428_3429ins4" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111738_2111739insN[4]" "" "pathogenic (dominant)" "" "0000671752" "0" "30" "16" "2161738" "2161738" "subst" "0.000439322" "00006" "PKD1_002458" "g.2161738C>T" "" "{PKDdb:PKD1;V1144I;2035}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111737C>T" "" "likely benign" "" "0000671753" "0" "90" "16" "2161727" "2161727" "subst" "0" "00006" "PKD1_002457" "g.2161727G>C" "" "{PKDdb:PKD1;Y1147X;2352}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111726G>C" "" "pathogenic (dominant)" "" "0000671754" "0" "30" "16" "2161724" "2161724" "subst" "0.00185722" "00006" "PKD1_002456" "g.2161724C>T" "" "{PKDdb:PKD1;3444G%3EA;375}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111723C>T" "" "likely benign" "" "0000671755" "0" "30" "16" "2161701" "2161701" "subst" "2.10837E-5" "00006" "PKD1_002455" "g.2161701C>G" "" "{PKDdb:PKD1;G1156A;1005}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111700C>G" "" "likely benign" "" "0000671756" "0" "90" "16" "2161691" "2161691" "subst" "0" "00006" "PKD1_002454" "g.2161691G>C" "" "{PKDdb:PKD1;Y1159X;2353}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111690G>C" "" "pathogenic (dominant)" "" "0000671757" "0" "30" "16" "2161688" "2161688" "subst" "2.14482E-5" "00006" "PKD1_002453" "g.2161688C>T" "" "{PKDdb:PKD1;3480G%3EA;378}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111687C>T" "" "likely benign" "" "0000671758" "0" "30" "16" "2161688" "2161688" "subst" "0.000203758" "00006" "PKD1_000851" "g.2161688C>A" "" "{PKDdb:PKD1;3480G%3ET;379}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111687C>A" "" "likely benign" "" "0000671759" "0" "90" "16" "2161685" "2161685" "subst" "0" "00006" "PKD1_000239" "g.2161685C>T" "" "{PKDdb:PKD1;W1161X;2098}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111684C>T" "" "pathogenic (dominant)" "" "0000671760" "0" "30" "16" "2161679" "2161679" "subst" "0.00296235" "00006" "PKD1_002452" "g.2161679G>A" "" "{PKDdb:PKD1;3489C%3ET;380}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111678G>A" "" "likely benign" "" "0000671761" "0" "90" "16" "2161678" "2161678" "del" "0" "00006" "PKD1_002451" "g.2161678del" "" "{PKDdb:PKD1;3493delG;2354}" "" "3493delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111677del" "" "pathogenic (dominant)" "" "0000671762" "0" "70" "16" "2161674" "2161674" "subst" "0" "00006" "PKD1_002450" "g.2161674T>C" "" "{PKDdb:PKD1;D1165G;887}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111673T>C" "" "likely pathogenic (dominant)" "" "0000671763" "0" "70" "16" "2161672" "2161672" "subst" "0" "00006" "PKD1_000104" "g.2161672C>T" "" "{PKDdb:PKD1;G1166S;1006}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111671C>T" "" "likely pathogenic (dominant)" "" "0000671764" "0" "30" "16" "2161666" "2161666" "subst" "0.0142609" "00006" "PKD1_001088" "g.2161666G>A" "" "{PKDdb:PKD1;P1168S;1585}" "" "" "reported in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111665G>A" "" "likely benign" "" "0000671765" "0" "90" "16" "2161664" "2161665" "del" "0" "00006" "PKD1_000488" "g.2161664_2161665del" "" "{PKDdb:PKD1;3503_3504delCT;381}" "" "3503_3504delCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111663_2111664del" "" "pathogenic (dominant)" "" "0000671766" "0" "30" "16" "2161655" "2161655" "subst" "0.00711697" "00006" "PKD1_000743" "g.2161655G>C" "" "{PKDdb:PKD1;3513C%3EG;382}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111654G>C" "" "likely benign" "" "0000671767" "0" "90" "16" "2161654" "2161654" "subst" "0" "00006" "PKD1_002449" "g.2161654G>A" "" "{PKDdb:PKD1;Q1172X;1643}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111653G>A" "" "pathogenic (dominant)" "" "0000671768" "0" "90" "16" "2161609" "2161635" "del" "0" "00006" "PKD1_002444" "g.2161609_2161635del" "" "{PKDdb:PKD1;T1180_H1188del9;2356}" "" "T1180_H1188del9" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111608_2111634del" "" "pathogenic (dominant)" "" "0000671769" "0" "90" "16" "2161632" "2161633" "dup" "0" "00006" "PKD1_002448" "g.2161632_2161633dup" "" "{PKDdb:PKD1;3539_3540insAC;2355}" "" "3539_3540insAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111631_2111632dup" "" "pathogenic (dominant)" "" "0000671770" "0" "30" "16" "2161623" "2161623" "subst" "0" "00006" "PKD1_002447" "g.2161623G>A" "" "{PKDdb:PKD1;A1182V;767}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111622G>A" "" "likely benign" "" "0000671771" "0" "30" "16" "2161616" "2161616" "subst" "0" "00006" "PKD1_002446" "g.2161616C>T" "" "{PKDdb:PKD1;3552G%3EA;383}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111615C>T" "" "likely benign" "" "0000671772" "0" "90" "16" "2161607" "2161607" "subst" "0" "00006" "PKD1_002445" "g.2161607G>T" "" "{PKDdb:PKD1;Y1187X;2157}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111606G>T" "" "pathogenic (dominant)" "" "0000671773" "0" "90" "16" "2161569" "2161575" "del" "0" "00006" "PKD1_000060" "g.2161569_2161575del" "" "{PKDdb:PKD1;3593_3599del7;385}" "" "3593_3599delGCGGTGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111568_2111574del" "" "pathogenic (dominant)" "" "0000671774" "0" "30" "16" "2161568" "2161568" "subst" "0.000519873" "00006" "PKD1_002443" "g.2161568C>T" "" "{PKDdb:PKD1;3600G%3EA;386}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111567C>T" "" "likely benign" "" "0000671775" "0" "30" "16" "2161557" "2161557" "subst" "5.44561E-6" "00006" "PKD1_002441" "g.2161557G>T" "" "{PKDdb:PKD1;A1204E;768}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111556G>T" "" "likely benign" "" "0000671776" "0" "30" "16" "2161557" "2161557" "subst" "0.000196042" "00006" "PKD1_002442" "g.2161557G>A" "" "{PKDdb:PKD1;A1204V;769}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111556G>A" "" "likely benign" "" "0000671777" "0" "70" "16" "2161551" "2161551" "subst" "0" "00006" "PKD1_002440" "g.2161551A>C" "" "{PKDdb:PKD1;V1206G;2511}" "" "" "likely pathogenic in ADPKDdb; reported in 5 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111550A>C" "" "likely pathogenic (dominant)" "" "0000671778" "0" "90" "16" "2161546" "2161547" "ins" "0" "00006" "PKD1_002439" "g.2161546_2161547insACAC" "" "{PKDdb:PKD1;3623_3624ins4;387}" "" "3623_3624insGTGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111545_2111546insACAC" "" "pathogenic (dominant)" "" "0000671779" "0" "90" "16" "2161523" "2161544" "delins" "0" "00006" "PKD1_002435" "g.2161523_2161544delinsA" "" "{PKDdb:PKD1;F1209_L1215del7;2357}" "" "3624_3645del22insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111522_2111543delinsA" "" "pathogenic (dominant)" "" "0000671780" "0" "90" "16" "2161540" "2161540" "subst" "0" "00006" "PKD1_002438" "g.2161540C>A" "" "{PKDdb:PKD1;E1210X;911}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111539C>A" "" "pathogenic (dominant)" "" "0000671781" "0" "90" "16" "2161528" "2161528" "subst" "0" "00006" "PKD1_002437" "g.2161528C>A" "" "{PKDdb:PKD1;G1214X;2358}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111527C>A" "" "pathogenic (dominant)" "" "0000671782" "0" "70" "16" "2161524" "2161524" "subst" "0" "00006" "PKD1_002436" "g.2161524A>G" "" "{PKDdb:PKD1;L1215P;1463}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111523A>G" "" "likely pathogenic (dominant)" "" "0000671783" "0" "30" "16" "2161489" "2161489" "subst" "0.00065278" "00006" "PKD1_001085" "g.2161489C>A" "" "{PKDdb:PKD1;A1227S;770}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111488C>A" "" "likely benign" "" "0000671784" "0" "90" "16" "2161488" "2161488" "del" "0" "00006" "PKD1_002433" "g.2161488del" "" "{PKDdb:PKD1;3684delC;389}" "" "3684delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111487del" "" "pathogenic (dominant)" "" "0000671785" "0" "90" "16" "2161488" "2161488" "dup" "0" "00006" "PKD1_002434" "g.2161488dup" "" "{PKDdb:PKD1;3684_3685insC;388}" "" "3684_3685insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111487dup" "" "pathogenic (dominant)" "" "0000671786" "0" "90" "16" "2161462" "2161462" "subst" "0" "00006" "PKD1_000665" "g.2161462G>A" "" "{PKDdb:PKD1;Q1236X;1644}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111461G>A" "" "pathogenic (dominant)" "" "0000671787" "0" "70" "16" "2161450" "2161452" "del" "0" "00006" "PKD1_000238" "g.2161450_2161452del" "" "{PKDdb:PKD1;N1240del;1561}" "" "3719_3721delACA" "highly likely pathogenic in ADPKDdb; reported in 6 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111449_2111451del" "" "likely pathogenic (dominant)" "" "0000671788" "0" "50" "16" "2161449" "2161449" "subst" "0" "00006" "PKD1_002432" "g.2161449T>A" "" "{PKDdb:PKD1;N1240I;1562}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111448T>A" "" "VUS" "" "0000671789" "0" "70" "16" "2161446" "2161446" "subst" "0" "00006" "PKD1_002430" "g.2161446A>T" "" "{PKDdb:PKD1;I1241N;2540}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111445A>T" "" "likely pathogenic (dominant)" "" "0000671790" "0" "50" "16" "2161446" "2161446" "subst" "0" "00006" "PKD1_002431" "g.2161446A>G" "" "{PKDdb:PKD1;I1241T;1091}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111445A>G" "" "VUS" "" "0000671791" "0" "70" "16" "2161443" "2161443" "subst" "0" "00006" "PKD1_000436" "g.2161443G>A" "" "{PKDdb:PKD1;T1242M;1993}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111442G>A" "" "likely pathogenic (dominant)" "" "0000671792" "0" "90" "16" "2161439" "2161439" "subst" "0" "00006" "PKD1_002429" "g.2161439C>T" "" "{PKDdb:PKD1;W1243X;2359}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111438C>T" "" "pathogenic (dominant)" "" "0000671793" "0" "50" "16" "2161407" "2161407" "subst" "4.18673E-6" "00006" "PKD1_002428" "g.2161407G>A" "" "{PKDdb:PKD1;S1254L;2229}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111406G>A" "" "VUS" "" "0000671794" "0" "90" "16" "2161384" "2161384" "dup" "0" "00006" "PKD1_000513" "g.2161384dup" "" "{PKDdb:PKD1;3784_3785insC;390}" "" "3784_3785insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111383dup" "" "pathogenic (dominant)" "" "0000671795" "0" "30" "16" "2161383" "2161383" "subst" "0" "00006" "PKD1_002427" "g.2161383T>C" "" "{PKDdb:PKD1;H1262R;1067}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111382T>C" "" "likely benign" "" "0000671796" "0" "90" "16" "2161376" "2161376" "subst" "0" "00006" "PKD1_002426" "g.2161376G>T" "" "{PKDdb:PKD1;Y1264X;2158}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111375G>T" "" "pathogenic (dominant)" "" "0000671797" "0" "90" "16" "2161354" "2161354" "del" "0" "00006" "PKD1_000385" "g.2161354del" "" "{PKDdb:PKD1;3814delG;391}" "" "3814delG" "definitely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111353del" "" "pathogenic (dominant)" "" "0000671798" "0" "90" "16" "2160281" "2161356" "del" "0" "00006" "PKD1_002320" "g.2160281_2161356del" "" "{PKDdb:PKD1;3815_4890del1076;392}" "" "3815_4890del1076" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110280_2111355del" "" "pathogenic (dominant)" "" "0000671799" "0" "50" "16" "2161348" "2161348" "subst" "4.27745E-6" "00006" "PKD1_000944" "g.2161348C>T" "" "{PKDdb:PKD1;V1274M;2036}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111347C>T" "" "VUS" "" "0000671800" "0" "90" "16" "2161346" "2161346" "del" "0" "00006" "PKD1_002425" "g.2161346del" "" "{PKDdb:PKD1;3824delG;393}" "" "3824delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111345del" "" "pathogenic (dominant)" "" "0000671801" "0" "70" "16" "2161334" "2161334" "subst" "0" "00006" "PKD1_002424" "g.2161334G>T" "" "{PKDdb:PKD1;S1278R;2230}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111333G>T" "" "likely pathogenic (dominant)" "" "0000671802" "0" "90" "16" "2161308" "2161308" "del" "0" "00006" "PKD1_002423" "g.2161308del" "" "{PKDdb:PKD1;3860delT;395}" "" "3860delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111307del" "" "pathogenic (dominant)" "" "0000671803" "0" "30" "16" "2161304" "2161304" "subst" "3.41629E-5" "00006" "PKD1_002422" "g.2161304G>A" "" "{PKDdb:PKD1;3864C%3ET;396}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111303G>A" "" "likely benign" "" "0000671804" "0" "70" "16" "2161302" "2161302" "subst" "0" "00006" "PKD1_002421" "g.2161302A>T" "" "{PKDdb:PKD1;V1289E;2037}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111301A>T" "" "likely pathogenic (dominant)" "" "0000671805" "0" "30" "16" "2161300" "2161300" "subst" "0.000209016" "00006" "PKD1_002420" "g.2161300G>C" "" "{PKDdb:PKD1;L1290V;1464}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111299G>C" "" "likely benign" "" "0000671806" "0" "50" "16" "2161292" "2161292" "subst" "8.49257E-6" "00006" "PKD1_002419" "g.2161292G>T" "" "{PKDdb:PKD1;F1292L;2231}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111291G>T" "" "VUS" "" "0000671807" "0" "90" "16" "2161289" "2161289" "del" "0" "00006" "PKD1_000384" "g.2161289del" "" "{PKDdb:PKD1;3880delC;397}" "" "3880delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111288del" "" "pathogenic (dominant)" "" "0000671808" "0" "90" "16" "2161270" "2161270" "subst" "0" "00006" "PKD1_002418" "g.2161270C>A" "" "{PKDdb:PKD1;E1300X;912}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111269C>A" "" "pathogenic (dominant)" "" "0000671809" "0" "50" "16" "2161267" "2161267" "subst" "0" "00006" "PKD1_002417" "g.2161267G>C" "" "{PKDdb:PKD1;P1301A;1586}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111266G>C" "" "VUS" "" "0000671810" "0" "90" "16" "2161261" "2161262" "del" "0" "00006" "PKD1_002416" "g.2161261_2161262del" "" "{PKDdb:PKD1;3907_3908delGC;2360}" "" "3907_3908delGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111260_2111261del" "" "pathogenic (dominant)" "" "0000671811" "0" "90" "16" "2161250" "2161253" "del" "0" "00006" "PKD1_002415" "g.2161250_2161253del" "" "{PKDdb:PKD1;3915_3918del4;398}" "" "3915_3918delCCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111249_2111252del" "" "pathogenic (dominant)" "" "0000671812" "0" "90" "16" "2161241" "2161242" "del" "0" "00006" "PKD1_000135" "g.2161241_2161242del" "" "{PKDdb:PKD1;3926_3927delCT;399}" "" "3926_3927delCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111240_2111241del" "" "pathogenic (dominant)" "" "0000671813" "0" "30" "16" "2161238" "2161238" "subst" "0.000612858" "00006" "PKD1_002414" "g.2161238G>A" "" "{PKDdb:PKD1;3930C%3ET;400}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111237G>A" "" "likely benign" "" "0000671814" "0" "30" "16" "2161237" "2161237" "subst" "0.00115082" "00006" "PKD1_002413" "g.2161237C>T" "" "{PKDdb:PKD1;A1311T;771}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111236C>T" "" "likely benign" "" "0000671815" "0" "30" "16" "2161233" "2161233" "subst" "0.0021446" "00006" "PKD1_002412" "g.2161233C>T" "" "{PKDdb:PKD1;R1312Q;1756}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111232C>T" "" "likely benign" "" "0000671816" "0" "50" "16" "2161228" "2161228" "subst" "0" "00006" "PKD1_002411" "g.2161228T>G" "" "{PKDdb:PKD1;T1314P;1994}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111227T>G" "" "VUS" "" "0000671817" "0" "90" "16" "2161202" "2161229" "del" "0" "00006" "PKD1_002409" "g.2161202_2161229del" "" "{PKDdb:PKD1;3942_3969del28;2361}" "" "3942_3969del28" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111201_2111228del" "" "pathogenic (dominant)" "" "0000671818" "0" "90" "16" "2161209" "2161210" "ins" "0" "00006" "PKD1_002410" "g.2161209_2161210insC" "" "{PKDdb:PKD1;3958_3959insG;401}" "" "3958_3959insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111208_2111209insC" "" "pathogenic (dominant)" "" "0000671819" "0" "70" "16" "2161186" "2161186" "subst" "0" "00006" "PKD1_002408" "g.2161186A>G" "" "{PKDdb:PKD1;W1328R;2232}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111185A>G" "" "likely pathogenic (dominant)" "" "0000671820" "0" "90" "16" "2161184" "2161184" "subst" "0" "00006" "PKD1_000265" "g.2161184C>T" "" "{PKDdb:PKD1;W1328X;2099}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111183C>T" "" "pathogenic (dominant)" "" "0000671821" "0" "30" "16" "2161178" "2161178" "subst" "1.23316E-5" "00006" "PKD1_002407" "g.2161178G>A" "" "{PKDdb:PKD1;3990C%3ET;402}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111177G>A" "" "likely benign" "" "0000671822" "0" "90" "16" "2161176" "2161213" "dup" "0" "00006" "PKD1_002406" "g.2161176_2161213dup" "" "{PKDdb:PKD1;3994_3995ins38;403}" "" "3994_3995insGAACCCGGCCCACTACCTCTTCGACTGGACCTTCGGGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111175_2111212dup" "" "pathogenic (dominant)" "" "0000671823" "0" "30" "16" "2161174" "2161174" "subst" "0.00022195" "00006" "PKD1_002405" "g.2161174C>T" "" "{PKDdb:PKD1;D1332N;2233}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111173C>T" "" "likely benign" "" "0000671824" "0" "30" "16" "2161154" "2161154" "subst" "0.000759841" "00006" "PKD1_002404" "g.2161154G>A" "" "{PKDdb:PKD1;4014C%3ET;404}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111153G>A" "" "likely benign" "" "0000671825" "0" "30" "16" "2161153" "2161153" "subst" "0.000209399" "00006" "PKD1_002403" "g.2161153C>T" "" "{PKDdb:PKD1;V1339M;2038}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111152C>T" "" "likely benign" "" "0000671826" "0" "30" "16" "2161150" "2161150" "subst" "0.00255814" "00006" "PKD1_000204" "g.2161150G>A" "" "{PKDdb:PKD1;R1340W;1758}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111149G>A" "" "likely benign" "" "0000671827" "0" "30" "16" "2161149" "2161149" "subst" "4.10523E-5" "00006" "PKD1_002402" "g.2161149C>T" "" "{PKDdb:PKD1;R1340Q;1757}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111148C>T" "" "likely benign" "" "0000671828" "0" "90" "16" "2161131" "2161132" "del" "0" "00006" "PKD1_000038" "g.2161131_2161132del" "" "{PKDdb:PKD1;4040_4041delAC;405}" "" "4040_4041delAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111130_2111131del" "" "pathogenic (dominant)" "" "0000671829" "0" "50" "16" "2161119" "2161119" "subst" "3.68418E-5" "00006" "PKD1_002401" "g.2161119G>A" "" "{PKDdb:PKD1;T1350M;1995}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111118G>A" "" "VUS" "" "0000671830" "0" "90" "16" "2161118" "2161119" "del" "0" "00006" "PKD1_000941" "g.2161118_2161119del" "" "{PKDdb:PKD1;4051_4052delGG;406}" "" "4051_4052delGG" "variant decription not correct; definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111117_2111118del" "" "pathogenic (dominant)" "" "0000671831" "0" "30" "16" "2161117" "2161117" "subst" "0.0012075" "00006" "PKD1_000302" "g.2161117G>A" "" "{PKDdb:PKD1;R1351W;1759}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111116G>A" "" "likely benign" "" "0000671832" "0" "30" "16" "2161115" "2161115" "subst" "0.000425602" "00006" "PKD1_002400" "g.2161115C>A" "" "{PKDdb:PKD1;4053G%3ET;407}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111114C>A" "" "likely benign" "" "0000671833" "0" "90" "16" "2161113" "2161113" "dup" "0" "00006" "PKD1_002398" "g.2161113dup" "" "{PKDdb:PKD1;4054_4055insG;408}" "" "4054_4055insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111112dup" "" "pathogenic (dominant)" "" "0000671834" "0" "50" "16" "2161113" "2161113" "subst" "0.000679248" "00006" "PKD1_002399" "g.2161113C>T" "" "{PKDdb:PKD1;S1352N;1917}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111112C>T" "" "VUS" "" "0000671835" "0" "90" "16" "2161103" "2161103" "del" "0" "00006" "PKD1_000426" "g.2161103del" "" "{PKDdb:PKD1;4069delC;409}" "" "4069delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111102del" "" "pathogenic (dominant)" "" "0000671836" "0" "90" "16" "2161098" "2161098" "del" "0" "00006" "PKD1_000383" "g.2161098del" "" "{PKDdb:PKD1;4070delT;410}" "" "4070delT" "definitely pathogenic in ADPKDdb; reported in 4 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111097del" "" "pathogenic (dominant)" "" "0000671837" "0" "70" "16" "2161098" "2161098" "subst" "0" "00006" "PKD1_002397" "g.2161098A>G" "" "{PKDdb:PKD1;L1357P;1465}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111097A>G" "" "likely pathogenic (dominant)" "" "0000671838" "0" "30" "16" "2161097" "2161097" "subst" "0.00600857" "00006" "PKD1_002396" "g.2161097C>A" "" "{PKDdb:PKD1;4071G%3ET;411}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111096C>A" "" "likely benign" "" "0000671839" "0" "90" "16" "2161088" "2161088" "del" "0" "00006" "PKD1_000134" "g.2161088del" "" "{PKDdb:PKD1;4080delG;412}" "" "4080delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111087del" "" "pathogenic (dominant)" "" "0000671840" "0" "70" "16" "2161084" "2161084" "subst" "0" "00006" "PKD1_002395" "g.2161084A>G" "" "{PKDdb:PKD1;S1362P;1918}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111083A>G" "" "likely pathogenic (dominant)" "" "0000671841" "0" "30" "16" "2161076" "2161076" "subst" "3.27094E-5" "00006" "PKD1_002394" "g.2161076G>A" "" "{PKDdb:PKD1;4092C%3ET;413}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111075G>A" "" "likely benign" "" "0000671842" "0" "90" "16" "2161068" "2161069" "del" "0" "00006" "PKD1_002393" "g.2161068_2161069del" "" "{PKDdb:PKD1;4099_4100delAG;414}" "" "4099_4100delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111067_2111068del" "" "pathogenic (dominant)" "" "0000671843" "0" "50" "16" "2161065" "2161065" "subst" "2.45278E-5" "00006" "PKD1_002392" "g.2161065G>A" "" "{PKDdb:PKD1;A1368V;773}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111064G>A" "" "VUS" "" "0000671844" "0" "90" "16" "2161048" "2161059" "delins" "0" "00006" "PKD1_000382" "g.2161048_2161059delinsC" "" "{PKDdb:PKD1;4109_4120del12insG;415}" "" "4109_4120del12insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111047_2111058delinsC" "" "pathogenic (dominant)" "" "0000671845" "0" "30" "16" "2161058" "2161058" "subst" "4.08751E-6" "00006" "PKD1_002391" "g.2161058G>A" "" "{PKDdb:PKD1;4110C%3ET;417}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111057G>A" "" "likely benign" "" "0000671846" "0" "90" "16" "2161055" "2161058" "del" "0" "00006" "PKD1_002390" "g.2161055_2161058del" "" "{PKDdb:PKD1;4110_4113del4;416}" "" "4110_4113delCTTC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111054_2111057del" "" "pathogenic (dominant)" "" "0000671847" "0" "30" "16" "2161049" "2161049" "subst" "4.08874E-6" "00006" "PKD1_002389" "g.2161049G>A" "" "{PKDdb:PKD1;4119C%3ET;418}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2111048G>A" "" "likely benign" "" "0000671848" "0" "30" "16" "2161048" "2161048" "subst" "4.08908E-6" "00006" "PKD1_002388" "g.2161048T>A" "" "{PKDdb:PKD1;I1374F;1092}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111047T>A" "" "likely benign" "" "0000671849" "0" "70" "16" "2161044" "2161044" "subst" "0" "00006" "PKD1_002387" "g.2161044C>T" "" "{PKDdb:PKD1;C1375Y;2234}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111043C>T" "" "likely pathogenic (dominant)" "" "0000671850" "0" "50" "16" "2161042" "2161042" "subst" "1.22722E-5" "00006" "PKD1_002386" "g.2161042C>T" "" "{PKDdb:PKD1;V1376M;2039}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111041C>T" "" "VUS" "" "0000671851" "0" "90" "16" "2161033" "2161033" "subst" "0" "00006" "PKD1_002385" "g.2161033C>A" "" "{PKDdb:PKD1;E1379X;2362}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111032C>A" "" "pathogenic (dominant)" "" "0000671852" "0" "70" "16" "2161020" "2161020" "subst" "0" "00006" "PKD1_002384" "g.2161020A>T" "" "{PKDdb:PKD1;V1383D;2040}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111019A>T" "" "likely pathogenic (dominant)" "" "0000671853" "0" "50" "16" "2161005" "2161005" "subst" "0" "00006" "PKD1_002383" "g.2161005T>C" "" "{PKDdb:PKD1;E1388G;913}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111004T>C" "" "VUS" "" "0000671854" "0" "30" "16" "2161004" "2161004" "subst" "2.05658E-5" "00006" "PKD1_002382" "g.2161004C>T" "" "{PKDdb:PKD1;4164G%3EA;419}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2111003C>T" "" "likely benign" "" "0000671855" "0" "30" "16" "2160988" "2160988" "subst" "0" "00006" "PKD1_002381" "g.2160988G>C" "" "{PKDdb:PKD1;L1394V;1466}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110987G>C" "" "likely benign" "" "0000671856" "0" "70" "16" "2160985" "2160985" "subst" "0" "00006" "PKD1_002380" "g.2160985C>T" "" "{PKDdb:PKD1;G1395R;1009}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110984C>T" "" "likely pathogenic (dominant)" "" "0000671857" "0" "30" "16" "2160973" "2160973" "subst" "0.0646496" "00006" "PKD1_000741" "g.2160973A>G" "" "{PKDdb:PKD1;W1399R;2100}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110972A>G" "" "likely benign" "" "0000671858" "0" "90" "16" "2160971" "2160974" "del" "0" "00006" "PKD1_002379" "g.2160971_2160974del" "" "{PKDdb:PKD1;4198_4201del4;2363}" "" "4198_4201delCTGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110970_2110973del" "" "pathogenic (dominant)" "" "0000671859" "0" "90" "16" "2160969" "2160969" "del" "0" "00006" "PKD1_000942" "g.2160969del" "" "{PKDdb:PKD1;4199delT;420}" "" "4199delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110968del" "" "pathogenic (dominant)" "" "0000671860" "0" "30" "16" "2160958" "2160958" "subst" "8.21504E-6" "00006" "PKD1_002378" "g.2160958C>G" "" "{PKDdb:PKD1;A1404P;774}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110957C>G" "" "likely benign" "" "0000671861" "0" "90" "16" "2160954" "2160954" "subst" "0" "00006" "PKD1_002377" "g.2160954C>T" "" "{PKDdb:PKD1;W1405X;2102}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110953C>T" "" "pathogenic (dominant)" "" "0000671862" "0" "90" "16" "2160952" "2160952" "dup" "0" "00006" "PKD1_002376" "g.2160952dup" "" "{PKDdb:PKD1;4220_4221insC;422}" "" "4220_4221insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110951dup" "" "pathogenic (dominant)" "" "0000671863" "0" "50" "16" "2160937" "2160937" "subst" "4.09722E-5" "00006" "PKD1_002375" "g.2160937G>A" "" "{PKDdb:PKD1;R1411C;1761}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110936G>A" "" "VUS" "" "0000671864" "0" "70" "16" "2160934" "2160934" "subst" "0" "00006" "PKD1_000381" "g.2160934A>C" "" "{PKDdb:PKD1;Y1412D;2159}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110933A>C" "" "likely pathogenic (dominant)" "" "0000671865" "0" "90" "16" "2160921" "2160922" "del" "0" "00006" "PKD1_002374" "g.2160921_2160922del" "" "{PKDdb:PKD1;4247_4248delTT;2364}" "" "4247_4248delTT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110920_2110921del" "" "pathogenic (dominant)" "" "0000671866" "0" "90" "16" "2160895" "2160913" "delins" "0" "00006" "PKD1_002372" "g.2160895_2160913delinsCTCA" "" "{PKDdb:PKD1;4255_4274del20ins5;2365}" "" "4255_4274delGAGGAAGCCGCCCCCACCCGinsTGAGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110894_2110912delinsCTCA" "" "pathogenic (dominant)" "" "0000671867" "0" "30" "16" "2160905" "2160905" "subst" "0.00100491" "00006" "PKD1_002373" "g.2160905G>A" "" "{PKDdb:PKD1;4263C%3ET;424}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110904G>A" "" "likely benign" "" "0000671868" "0" "30" "16" "2160904" "2160904" "subst" "0.00592388" "00006" "PKD1_000662" "g.2160904C>T" "" "{PKDdb:PKD1;A1422T;776}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110903C>T" "" "likely benign" "" "0000671869" "0" "90" "16" "2160889" "2160889" "del" "0" "00006" "PKD1_000486" "g.2160889del" "" "{PKDdb:PKD1;4279delA;425}" "" "4279delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110888del" "" "pathogenic (dominant)" "" "0000671870" "0" "90" "16" "2160874" "2160875" "ins" "0" "00006" "PKD1_002371" "g.2160874_2160875insGACGT" "" "{PKDdb:PKD1;4297_4298ins5;2366}" "" "4297_4298insCACGT" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110873_2110874insGACGT" "" "pathogenic (dominant)" "" "0000671871" "0" "30" "16" "2160866" "2160866" "subst" "0.00246149" "00006" "PKD1_002370" "g.2160866G>A" "" "{PKDdb:PKD1;4302C%3ET;427}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110865G>A" "" "likely benign" "" "0000671872" "0" "90" "16" "2160862" "2160862" "subst" "0" "00006" "PKD1_000301" "g.2160862G>A" "" "{PKDdb:PKD1;R1436X;1762}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110861G>A" "" "pathogenic (dominant)" "" "0000671873" "0" "90" "16" "2160837" "2160838" "del" "0" "00006" "PKD1_002369" "g.2160837_2160838del" "" "{PKDdb:PKD1;4331_4332delCA;2367}" "" "4331_4332delCA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110836_2110837del" "" "pathogenic (dominant)" "" "0000671874" "0" "30" "16" "2160833" "2160833" "subst" "0" "00006" "PKD1_002368" "g.2160833G>T" "" "{PKDdb:PKD1;4335C%3EA;428}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110832G>T" "" "likely benign" "" "0000671875" "0" "30" "16" "2160828" "2160828" "subst" "0.000387512" "00006" "PKD1_002367" "g.2160828G>A" "" "{PKDdb:PKD1;A1447V;777}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110827G>A" "" "likely benign" "" "0000671876" "0" "70" "16" "2160822" "2160824" "del" "0" "00006" "PKD1_002366" "g.2160822_2160824del" "" "{PKDdb:PKD1;N1450del;1563}" "" "4347_4349delCAA" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110821_2110823del" "" "likely pathogenic (dominant)" "" "0000671877" "0" "30" "16" "2160812" "2160812" "subst" "1.22331E-5" "00006" "PKD1_002365" "g.2160812A>G" "" "{PKDdb:PKD1;4356T%3EC;429}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110811A>G" "" "likely benign" "" "0000671878" "0" "90" "16" "2160799" "2160800" "del" "0" "00006" "PKD1_000661" "g.2160799_2160800del" "" "{PKDdb:PKD1;4369_4370delTC;430}" "" "4369_4370delTC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110798_2110799del" "" "pathogenic (dominant)" "" "0000671879" "0" "90" "16" "2160798" "2160798" "subst" "0" "00006" "PKD1_000485" "g.2160798G>C" "" "{PKDdb:PKD1;S1457X;1919}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110797G>C" "" "pathogenic (dominant)" "" "0000671880" "0" "70" "16" "2160789" "2160789" "subst" "0" "00006" "PKD1_001080" "g.2160789A>C" "" "{PKDdb:PKD1;V1460G;2541}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110788A>C" "" "likely pathogenic (dominant)" "" "0000671881" "0" "90" "16" "2160781" "2160781" "subst" "0" "00006" "PKD1_002364" "g.2160781G>A" "" "{PKDdb:PKD1;Q1463X;2368}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110780G>A" "" "pathogenic (dominant)" "" "0000671882" "0" "50" "16" "2160729" "2160729" "subst" "0" "00006" "PKD1_002363" "g.2160729T>C" "" "{PKDdb:PKD1;E1480G;914}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110728T>C" "" "VUS" "" "0000671883" "0" "30" "16" "2160727" "2160727" "subst" "1.40865E-5" "00006" "PKD1_002362" "g.2160727G>T" "" "{PKDdb:PKD1;L1481M;1468}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110726G>T" "" "likely benign" "" "0000671884" "0" "90" "16" "2160726" "2160726" "dup" "0" "00006" "PKD1_002361" "g.2160726dup" "" "{PKDdb:PKD1;4442_4443insT;2369}" "" "4442_4443insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110725dup" "" "pathogenic (dominant)" "" "0000671885" "0" "90" "16" "2160724" "2160724" "subst" "0" "00006" "PKD1_002360" "g.2160724G>A" "" "{PKDdb:PKD1;Q1482X;2235}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110723G>A" "" "pathogenic (dominant)" "" "0000671886" "0" "90" "16" "2160721" "2160721" "subst" "0" "00006" "PKD1_000484" "g.2160721G>A" "" "{PKDdb:PKD1;Q1483X;1645}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110720G>A" "" "pathogenic (dominant)" "" "0000671887" "0" "30" "16" "2160716" "2160716" "subst" "0.000784284" "00006" "PKD1_000660" "g.2160716C>T" "" "{PKDdb:PKD1;4452G%3EA;433}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110715C>T" "" "likely benign" "" "0000671888" "0" "90" "16" "2160713" "2160713" "subst" "0" "00006" "PKD1_002359" "g.2160713G>C" "" "{PKDdb:PKD1;Y1485X;2160}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110712G>C" "" "pathogenic (dominant)" "" "0000671889" "0" "90" "16" "2160707" "2160708" "ins" "0" "00006" "PKD1_002358" "g.2160707_2160708insT" "" "{PKDdb:PKD1;4460_4461insA;2370}" "" "4460_4461insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110706_2110707insT" "" "pathogenic (dominant)" "" "0000671890" "0" "30" "16" "2160673" "2160673" "subst" "0.00265265" "00006" "PKD1_000846" "g.2160673G>A" "" "{PKDdb:PKD1;4495C%3ET;434}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110672G>A" "" "likely benign" "" "0000671891" "0" "90" "16" "2160669" "2160669" "subst" "0" "00006" "PKD1_002357" "g.2160669C>T" "" "{PKDdb:PKD1;W1500X;2103}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110668C>T" "" "pathogenic (dominant)" "" "0000671892" "0" "70" "16" "2160661" "2160661" "subst" "0" "00006" "PKD1_002356" "g.2160661C>T" "" "{PKDdb:PKD1;G1503R (4507G%3EA);2657}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110660C>T" "" "likely pathogenic (dominant)" "" "0000671893" "0" "70" "16" "2160661" "2160661" "subst" "0" "00006" "PKD1_000380" "g.2160661C>G" "" "{PKDdb:PKD1;G1503R (4507G%3EC);1010}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110660C>G" "" "likely pathogenic (dominant)" "" "0000671894" "0" "30" "16" "2160659" "2160659" "subst" "0" "00006" "PKD1_002355" "g.2160659C>A" "" "{PKDdb:PKD1;4509G%3ET;435}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110658C>A" "" "likely benign" "" "0000671895" "0" "90" "16" "2160647" "2160647" "subst" "0" "00006" "PKD1_002354" "g.2160647C>T" "" "{PKDdb:PKD1;W1507X;2104}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110646C>T" "" "pathogenic (dominant)" "" "0000671896" "0" "30" "16" "2160644" "2160644" "subst" "0.000273984" "00006" "PKD1_001128" "g.2160644G>A" "" "{PKDdb:PKD1;4524C%3ET;436}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110643G>A" "" "likely benign" "" "0000671897" "0" "30" "16" "2160635" "2160635" "subst" "4.50041E-5" "00006" "PKD1_002353" "g.2160635C>T" "" "{PKDdb:PKD1;4533G%3EA;437}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110634C>T" "" "likely benign" "" "0000671898" "0" "70" "16" "2160624" "2160624" "subst" "0" "00006" "PKD1_002352" "g.2160624T>G" "" "{PKDdb:PKD1;H1515P;1068}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110623T>G" "" "likely pathogenic (dominant)" "" "0000671899" "0" "30" "16" "2160622" "2160622" "subst" "0.00587533" "00006" "PKD1_000845" "g.2160622C>T" "" "{PKDdb:PKD1;A1516T;779}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110621C>T" "" "likely benign" "" "0000671900" "0" "70" "16" "2160619" "2160619" "subst" "0" "00006" "PKD1_002351" "g.2160619A>C" "" "{PKDdb:PKD1;Y1517D;2161}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110618A>C" "" "likely pathogenic (dominant)" "" "0000671901" "0" "70" "16" "2160618" "2160618" "subst" "0" "00006" "PKD1_002350" "g.2160618T>C" "" "{PKDdb:PKD1;Y1517C;2542}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110617T>C" "" "likely pathogenic (dominant)" "" "0000671902" "0" "90" "16" "2160617" "2160617" "subst" "0" "00006" "PKD1_002349" "g.2160617G>C" "" "{PKDdb:PKD1;Y1517X;2371}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110616G>C" "" "pathogenic (dominant)" "" "0000671903" "0" "30" "16" "2160605" "2160605" "subst" "0.000531815" "00006" "PKD1_002348" "g.2160605A>G" "" "{PKDdb:PKD1;4563T%3EC;438}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110604A>G" "" "likely benign" "" "0000671904" "0" "90" "16" "2160595" "2160595" "del" "0" "00006" "PKD1_000133" "g.2160595del" "" "{PKDdb:PKD1;4573delG;439}" "" "4573delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110594del" "" "pathogenic (dominant)" "" "0000671905" "0" "70" "16" "2160594" "2160594" "subst" "0" "00006" "PKD1_002347" "g.2160594A>C" "" "{PKDdb:PKD1;V1525G;2041}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110593A>C" "" "likely pathogenic (dominant)" "" "0000671906" "0" "30" "16" "2160581" "2160581" "subst" "0" "00006" "PKD1_002346" "g.2160581G>T" "" "{PKDdb:PKD1;4587C%3EA;440}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110580G>T" "" "likely benign" "" "0000671907" "0" "90" "16" "2160327" "2160578" "del" "0" "00006" "PKD1_002328" "g.2160327_2160578del" "" "{PKDdb:PKD1;N1531_E1614del84;1564}" "" "4593_4844del252" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110326_2110577del" "" "pathogenic (dominant)" "" "0000671908" "0" "90" "16" "2160559" "2160559" "subst" "0" "00006" "PKD1_000132" "g.2160559C>A" "" "{PKDdb:PKD1;E1537X;915}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110558C>A" "" "pathogenic (dominant)" "" "0000671909" "0" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PKDdb:PKD1;W1539X;2372}" "" "" "definitely pathogenic in ADPKDdb; reported in 6 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000671910" "0" "30" "16" "2160539" "2160539" "subst" "2.04826E-5" "00006" "PKD1_002344" "g.2160539C>T" "" "{PKDdb:PKD1;4629G%3EA;441}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110538C>T" "" "likely benign" "" "0000671911" "0" "30" "16" "2160533" "2160533" "subst" "0" "00006" "PKD1_002343" "g.2160533C>T" "" "{PKDdb:PKD1;4635G%3EA;442}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110532C>T" "" "likely benign" "" "0000671912" "0" "50" "16" "2160532" "2160532" "subst" "0.000123019" "00006" "PKD1_002342" "g.2160532G>A" "" "{PKDdb:PKD1;R1546W;1763}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110531G>A" "" "VUS" "" "0000671913" "0" "30" "16" "2160527" "2160527" "subst" "8.20244E-6" "00006" "PKD1_002341" "g.2160527G>A" "" "{PKDdb:PKD1;4641C%3ET;443}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110526G>A" "" "likely benign" "" "0000671914" "0" "30" "16" "2160503" "2160503" "subst" "0.163281" "00006" "PKD1_000738" "g.2160503T>G" "" "{PKDdb:PKD1;4665A%3EC;444}" "" "" "reported in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110502T>G" "" "likely benign" "" "0000671915" "0" "30" "16" "2160499" "2160499" "subst" "3.27115E-5" "00006" "PKD1_002340" "g.2160499G>A" "" "{PKDdb:PKD1;R1557C;1764}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110498G>A" "" "likely benign" "" "0000671916" "0" "30" "16" "2160494" "2160494" "subst" "0.0767881" "00006" "PKD1_000737" "g.2160494C>T" "" "{PKDdb:PKD1;4674G%3EA;445}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110493C>T" "" "likely benign" "" "0000671917" "0" "30" "16" "2160484" "2160484" "subst" "0.000968303" "00006" "PKD1_002339" "g.2160484G>A" "" "{PKDdb:PKD1;4684C%3ET;446}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110483G>A" "" "likely benign" "" "0000671918" "0" "90" "16" "2160478" "2160479" "del" "0" "00006" "PKD1_000483" "g.2160478_2160479del" "" "{PKDdb:PKD1;4689_4690delTG;447}" "" "4689_4690delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110477_2110478del" "" "pathogenic (dominant)" "" "0000671919" "0" "50" "16" "2160459" "2160459" "subst" "1.63357E-5" "00006" "PKD1_000460" "g.2160459G>A" "" "{PKDdb:PKD1;T1570M;1996}" "" "" "likely hypomorphic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110458G>A" "" "VUS (!)" "" "0000671920" "0" "30" "16" "2160458" "2160458" "subst" "0" "00006" "PKD1_002338" "g.2160458C>G" "" "{PKDdb:PKD1;4710G%3EC;448}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110457C>G" "" "likely benign" "" "0000671921" "0" "90" "16" "2160422" "2160422" "subst" "0" "00006" "PKD1_000379" "g.2160422C>T" "" "{PKDdb:PKD1;W1582X;2105}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110421C>T" "" "pathogenic (dominant)" "" "0000671922" "0" "30" "16" "2160379" "2160379" "subst" "8.16007E-6" "00006" "PKD1_002337" "g.2160379T>C" "" "{PKDdb:PKD1;I1597V;1093}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110378T>C" "" "likely benign" "" "0000671923" "0" "90" "16" "2160367" "2160374" "dup" "0" "00006" "PKD1_000482" "g.2160367_2160374dup" "" "{PKDdb:PKD1;4795_4802ins8;449}" "" "4795_4802insTACACCTT (Phe1599fs17X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110366_2110373dup" "" "pathogenic (dominant)" "" "0000671924" "0" "90" "16" "2160371" "2160371" "subst" "0" "00006" "PKD1_002336" "g.2160371G>C" "" "{PKDdb:PKD1;Y1599X;2373}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110370G>C" "" "pathogenic (dominant)" "" "0000671925" "0" "30" "16" "2160359" "2160359" "subst" "5.30374E-5" "00006" "PKD1_002335" "g.2160359G>A" "" "{PKDdb:PKD1;4809C%3ET;450}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110358G>A" "" "likely benign" "" "0000671926" "0" "30" "16" "2160358" "2160358" "subst" "0.000616015" "00006" "PKD1_002334" "g.2160358C>T" "" "{PKDdb:PKD1;V1604M;2042}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110357C>T" "" "likely benign" "" "0000671927" "0" "50" "16" "2160351" "2160351" "subst" "2.44748E-5" "00006" "PKD1_002333" "g.2160351G>C" "" "{PKDdb:PKD1;T1606S;1997}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110350G>C" "" "VUS" "" "0000671928" "0" "70" "16" "2160341" "2160343" "del" "0" "00006" "PKD1_002332" "g.2160341_2160343del" "" "{PKDdb:PKD1;I1610del;1094}" "" "4828_4830delATC" "likely pathogenic in ADPKDdb; reported in 5 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110340_2110342del" "" "likely pathogenic (dominant)" "" "0000671929" "0" "30" "16" "2160338" "2160338" "subst" "0" "00006" "PKD1_002331" "g.2160338G>T" "" "{PKDdb:PKD1;4830C%3EA;452}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110337G>T" "" "likely benign" "" "0000671930" "0" "90" "16" "2160338" "2160338" "dup" "0" "00006" "PKD1_000237" "g.2160338dup" "" "{PKDdb:PKD1;4830_4831insC;451}" "" "4830_4831insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110337dup" "" "pathogenic (dominant)" "" "0000671931" "0" "70" "16" "2160337" "2160337" "subst" "2.44754E-5" "00006" "PKD1_002330" "g.2160337C>T" "" "{PKDdb:PKD1;V1611I;2043}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110336C>T" "" "likely pathogenic (dominant)" "" "0000671932" "0" "30" "16" "2160332" "2160332" "subst" "0.00044876" "00006" "PKD1_002329" "g.2160332C>T" "" "{PKDdb:PKD1;4836G%3EA;453}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110331C>T" "" "likely benign" "" "0000671933" "0" "30" "16" "2160323" "2160323" "subst" "0.00306431" "00006" "PKD1_000842" "g.2160323G>A" "" "{PKDdb:PKD1;4845C%3ET;454}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110322G>A" "" "likely benign" "" "0000671934" "0" "30" "16" "2160312" "2160312" "subst" "0.000616296" "00006" "PKD1_000658" "g.2160312G>A" "" "{PKDdb:PKD1;S1619F;1920}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110311G>A" "" "likely benign" "" "0000671935" "0" "90" "16" "2160307" "2160307" "subst" "0" "00006" "PKD1_002327" "g.2160307G>A" "" "{PKDdb:PKD1;Q1621X;2236}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110306G>A" "" "pathogenic (dominant)" "" "0000671936" "0" "30" "16" "2160296" "2160296" "subst" "0.00051025" "00006" "PKD1_002326" "g.2160296G>A" "" "{PKDdb:PKD1;4872C%3ET;455}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110295G>A" "" "likely benign" "" "0000671937" "0" "30" "16" "2160292" "2160292" "subst" "1.63332E-5" "00006" "PKD1_002325" "g.2160292C>T" "" "{PKDdb:PKD1;V1626I;2044}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110291C>T" "" "likely benign" "" "0000671938" "0" "30" "16" "2160290" "2160290" "subst" "0" "00006" "PKD1_002324" "g.2160290G>A" "" "{PKDdb:PKD1;4878C%3ET;456}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110289G>A" "" "likely benign" "" "0000671939" "0" "90" "16" "2160289" "2160289" "dup" "0" "00006" "PKD1_002323" "g.2160289dup" "" "{PKDdb:PKD1;4879_4880insT;457}" "" "4879_4880insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110288dup" "" "pathogenic (dominant)" "" "0000671940" "0" "90" "16" "2160288" "2160289" "del" "0" "00006" "PKD1_002322" "g.2160288_2160289del" "" "{PKDdb:PKD1;4880_4881delAT;458}" "" "4880_4881delAT" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110287_2110288del" "" "pathogenic (dominant)" "" "0000671941" "0" "50" "16" "2160286" "2160286" "subst" "0" "00006" "PKD1_002321" "g.2160286C>G" "" "{PKDdb:PKD1;V1628L;2045}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110285C>G" "" "VUS" "" "0000671942" "0" "90" "16" "2160280" "2160280" "subst" "0" "00006" "PKD1_000435" "g.2160280G>A" "" "{PKDdb:PKD1;Q1630X;1647}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110279G>A" "" "pathogenic (dominant)" "" "0000671943" "0" "90" "16" "2160273" "2160274" "del" "0" "00006" "PKD1_000180" "g.2160273_2160274del" "" "{PKDdb:PKD1;4894_4895delAT;459}" "" "4894_4895delAT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110272_2110273del" "" "pathogenic (dominant)" "" "0000671944" "0" "90" "16" "2160273" "2160274" "del" "0" "00006" "PKD1_000180" "g.2160273_2160274del" "" "{PKDdb:PKD1;4895_4896delTA;2652}" "" "4895_4896delTA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110272_2110273del" "" "pathogenic (dominant)" "" "0000671945" "0" "90" "16" "2160270" "2160271" "ins" "0" "00006" "PKD1_000051" "g.2160270_2160271insA" "" "{PKDdb:PKD1;4897_4898insT;460}" "" "4897_4898insT" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110269_2110270insA" "" "pathogenic (dominant)" "" "0000671946" "0" "90" "16" "2160262" "2160262" "subst" "0" "00006" "PKD1_000203" "g.2160262G>A" "" "{PKDdb:PKD1;Q1636X;1648}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110261G>A" "" "pathogenic (dominant)" "" "0000671947" "0" "30" "16" "2160254" "2160254" "subst" "0.000103491" "00006" "PKD1_002319" "g.2160254C>T" "" "{PKDdb:PKD1;4914G%3EA;461}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110253C>T" "" "likely benign" "" "0000671948" "0" "30" "16" "2160251" "2160251" "subst" "0" "00006" "PKD1_002318" "g.2160251G>C" "" "{PKDdb:PKD1;4917C%3EG;463}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110250G>C" "" "likely benign" "" "0000671949" "0" "30" "16" "2160251" "2160251" "subst" "0.00137944" "00006" "PKD1_000736" "g.2160251G>A" "" "{PKDdb:PKD1;4917C%3ET;462}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110250G>A" "" "likely benign" "" "0000671950" "0" "90" "16" "2160236" "2160236" "del" "0" "00006" "PKD1_002317" "g.2160236del" "" "{PKDdb:PKD1;4935delC;2375}" "" "4935delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110235del" "" "pathogenic (dominant)" "" "0000671951" "0" "30" "16" "2160227" "2160227" "subst" "0.000127127" "00006" "PKD1_002316" "g.2160227G>A" "" "{PKDdb:PKD1;4941C%3ET;464}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110226G>A" "" "likely benign" "" "0000671952" "0" "30" "16" "2160222" "2160222" "subst" "3.69197E-5" "00006" "PKD1_002315" "g.2160222G>A" "" "{PKDdb:PKD1;T1649M;1998}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110221G>A" "" "likely benign" "" "0000671953" "0" "30" "16" "2160221" "2160221" "subst" "1.64077E-5" "00006" "PKD1_002314" "g.2160221C>T" "" "{PKDdb:PKD1;4947G%3EA;465}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110220C>T" "" "likely benign" "" "0000671954" "0" "90" "16" "2160221" "2160221" "del" "0" "00006" "PKD1_000179" "g.2160221del" "" "{PKDdb:PKD1;4948delG;466}" "" "4948delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110220del" "" "pathogenic (dominant)" "" "0000671955" "0" "90" "16" "2160217" "2160217" "subst" "0" "00006" "PKD1_002313" "g.2160217G>A" "" "{PKDdb:PKD1;Q1651X;2376}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110216G>A" "" "pathogenic (dominant)" "" "0000671956" "0" "90" "16" "2160211" "2160211" "subst" "0" "00006" "PKD1_000103" "g.2160211G>A" "" "{PKDdb:PKD1;Q1653X;1650}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110210G>A" "" "pathogenic (dominant)" "" "0000671957" "0" "30" "16" "2160205" "2160205" "subst" "0.000336074" "00006" "PKD1_001078" "g.2160205C>A" "" "{PKDdb:PKD1;V1655L;2046}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110204C>A" "" "likely benign" "" "0000671958" "0" "50" "16" "2160169" "2160169" "subst" "0" "00006" "PKD1_000236" "g.2160169T>G" "" "{PKDdb:PKD1;T1667P;1999}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110168T>G" "" "VUS" "" "0000671959" "0" "90" "16" "2160163" "2160196" "dup" "0" "00006" "PKD1_002312" "g.2160163_2160196dup" "" "{PKDdb:PKD1;5006_5007ins34;2377}" "" "5006_5007insATGGCACCAACGTCTCCTACAGCTGGACTGCCTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110162_2110195dup" "" "pathogenic (dominant)" "" "0000671960" "0" "90" "16" "2160154" "2160154" "del" "0" "00006" "PKD1_000037" "g.2160154del" "" "{PKDdb:PKD1;5014delA;472}" "" "5014delA" "definitely pathogenic in ADPKDdb; reported in 5 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110153del" "" "pathogenic (dominant)" "" "0000671961" "0" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PKDdb:PKD1;5014_5015delAG;471}" "" "5014_5015delAG" "definitely pathogenic in ADPKDdb; reported in 43 families in 13 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000671962" "0" "30" "16" "2160147" "2160147" "subst" "4.18239E-5" "00006" "PKD1_002311" "g.2160147G>A" "" "{PKDdb:PKD1;P1674L;1587}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110146G>A" "" "likely benign" "" "0000671963" "0" "30" "16" "2160136" "2160136" "subst" "3.80427E-5" "00006" "PKD1_002310" "g.2160136C>T" "" "{PKDdb:PKD1;G1678S;1013}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110135C>T" "" "likely benign" "" "0000671964" "0" "90" "16" "2160127" "2160127" "del" "0" "00006" "PKD1_002309" "g.2160127del" "" "{PKDdb:PKD1;5043delA;473}" "" "5043delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110126del" "" "pathogenic (dominant)" "" "0000671965" "0" "30" "16" "2160117" "2160117" "subst" "0.00255207" "00006" "PKD1_002308" "g.2160117G>A" "" "{PKDdb:PKD1;S1684L;1921}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110116G>A" "" "likely benign" "" "0000671966" "0" "30" "16" "2160104" "2160104" "subst" "0.000175516" "00006" "PKD1_002307" "g.2160104G>A" "" "{PKDdb:PKD1;5064C%3ET;474}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110103G>A" "" "likely benign" "" "0000671967" "0" "30" "16" "2160098" "2160098" "subst" "0.000129277" "00006" "PKD1_001126" "g.2160098G>A" "" "{PKDdb:PKD1;5070C%3ET;2289}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110097G>A" "" "likely benign" "" "0000671968" "0" "90" "16" "2160089" "2160089" "subst" "0" "00006" "PKD1_000512" "g.2160089G>T" "" "{PKDdb:PKD1;Y1693X;2162}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110088G>T" "" "pathogenic (dominant)" "" "0000671969" "0" "90" "16" "2160067" "2160090" "del" "0" "00006" "PKD1_002302" "g.2160067_2160090del" "" "{PKDdb:PKD1;H1694_N1701del8;2378}" "" "5080_5103delCATGTGCA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110066_2110089del" "" "pathogenic (dominant)" "" "0000671970" "0" "30" "16" "2160087" "2160087" "subst" "4.16018E-6" "00006" "PKD1_002306" "g.2160087T>C" "" "{PKDdb:PKD1;H1694R;1069}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110086T>C" "" "likely benign" "" "0000671971" "0" "90" "16" "2160082" "2160082" "subst" "0" "00006" "PKD1_000378" "g.2160082G>A" "" "{PKDdb:PKD1;Q1696X;1651}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110081G>A" "" "pathogenic (dominant)" "" "0000671972" "0" "50" "16" "2160076" "2160076" "subst" "0.000175066" "00006" "PKD1_002305" "g.2160076G>A" "" "{PKDdb:PKD1;R1698W;1766}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110075G>A" "" "VUS" "" "0000671973" "0" "70" "16" "2160072" "2160072" "subst" "0" "00006" "PKD1_002304" "g.2160072G>T" "" "{PKDdb:PKD1;A1699D;2237}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110071G>T" "" "likely pathogenic (dominant)" "" "0000671974" "0" "70" "16" "2160067" "2160067" "subst" "0" "00006" "PKD1_002303" "g.2160067T>C" "" "{PKDdb:PKD1;N1701D;1565}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110066T>C" "" "likely pathogenic (dominant)" "" "0000671975" "0" "90" "16" "2160048" "2160048" "subst" "0" "00006" "PKD1_000377" "g.2160048C>T" "" "{PKDdb:PKD1;W1707X;2106}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110047C>T" "" "pathogenic (dominant)" "" "0000671976" "0" "90" "16" "2160045" "2160045" "del" "0" "00006" "PKD1_002301" "g.2160045del" "" "{PKDdb:PKD1;5124delC;475}" "" "5124delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110044del" "" "pathogenic (dominant)" "" "0000671977" "0" "70" "16" "2160036" "2160036" "subst" "2.47623E-5" "00006" "PKD1_002300" "g.2160036G>A" "" "{PKDdb:PKD1;T1711I;2000}" "" "" "likely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110035G>A" "" "likely pathogenic (dominant)" "" "0000671978" "0" "90" "16" "2160028" "2160028" "del" "0" "00006" "PKD1_002299" "g.2160028del" "" "{PKDdb:PKD1;5141delT;476}" "" "5141delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110027del" "" "pathogenic (dominant)" "" "0000671979" "0" "90" "16" "2160022" "2160022" "subst" "0" "00006" "PKD1_002298" "g.2160022C>A" "" "{PKDdb:PKD1;E1716X;916}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110021C>A" "" "pathogenic (dominant)" "" "0000671980" "0" "90" "16" "2160013" "2160023" "del" "0" "00006" "PKD1_002296" "g.2160013_2160023del" "" "{PKDdb:PKD1;5147_5157del11;477}" "" "5147_5157delAGCCTGTG..." "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2110012_2110022del" "" "pathogenic (dominant)" "" "0000671981" "0" "90" "16" "2160013" "2160014" "ins" "0" "00006" "PKD1_002297" "g.2160013_2160014insA" "" "{PKDdb:PKD1;5154_5155insT;478}" "" "5154_5155insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2110012_2110013insA" "" "pathogenic (dominant)" "" "0000671982" "0" "30" "16" "2159996" "2159996" "subst" "0.160191" "00006" "PKD1_000733" "g.2159996G>A" "" "{PKDdb:PKD1;5172C%3ET;479}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109995G>A" "" "likely benign" "" "0000671983" "0" "50" "16" "2159988" "2159988" "subst" "3.78059E-5" "00006" "PKD1_002295" "g.2159988G>A" "" "{PKDdb:PKD1;P1727L;2512}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109987G>A" "" "VUS" "" "0000671984" "0" "90" "16" "2159984" "2159984" "del" "0" "00006" "PKD1_002294" "g.2159984del" "" "{PKDdb:PKD1;5186delC;2379}" "" "5186delC" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109983del" "" "pathogenic (dominant)" "" "0000671985" "0" "30" "16" "2159954" "2159954" "subst" "0" "00006" "PKD1_002293" "g.2159954G>A" "" "{PKDdb:PKD1;5214C%3ET;480}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109953G>A" "" "likely benign" "" "0000671986" "0" "90" "16" "2159915" "2159930" "del" "0" "00006" "PKD1_002289" "g.2159915_2159930del" "" "{PKDdb:PKD1;5242_5257del16;2380}" "" "5242_5257delGTCGTATA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109914_2109929del" "" "pathogenic (dominant)" "" "0000671987" "0" "30" "16" "2159924" "2159924" "subst" "9.48821E-5" "00006" "PKD1_002292" "g.2159924G>A" "" "{PKDdb:PKD1;5244C%3ET;481}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109923G>A" "" "likely benign" "" "0000671988" "0" "90" "16" "2159923" "2159923" "del" "0" "00006" "PKD1_002291" "g.2159923del" "" "{PKDdb:PKD1;5245delG;482}" "" "5245delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109922del" "" "pathogenic (dominant)" "" "0000671989" "0" "70" "16" "2159912" "2159912" "subst" "0" "00006" "PKD1_002290" "g.2159912C>G" "" "{PKDdb:PKD1;W1752C;2107}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109911C>G" "" "likely pathogenic (dominant)" "" "0000671990" "0" "50" "16" "2159880" "2159880" "subst" "0.000298095" "00006" "PKD1_002288" "g.2159880G>C" "" "{PKDdb:PKD1;S1763C;1922}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109879G>C" "" "VUS" "" "0000671991" "0" "30" "16" "2159879" "2159879" "subst" "4.49189E-5" "00006" "PKD1_002287" "g.2159879G>A" "" "{PKDdb:PKD1;5289C%3ET;483}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109878G>A" "" "likely benign" "" "0000671992" "0" "90" "16" "2159878" "2159878" "subst" "0" "00006" "PKD1_002286" "g.2159878C>A" "" "{PKDdb:PKD1;E1764X;2381}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109877C>A" "" "pathogenic (dominant)" "" "0000671993" "0" "30" "16" "2159861" "2159861" "subst" "0.000187875" "00006" "PKD1_002285" "g.2159861A>G" "" "{PKDdb:PKD1;5307T%3EC;486}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109860A>G" "" "likely benign" "" "0000671994" "0" "30" "16" "2159850" "2159850" "subst" "0.00228715" "00006" "PKD1_000841" "g.2159850G>A" "" "{PKDdb:PKD1;T1773I;2001}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109849G>A" "" "likely benign" "" "0000671995" "0" "30" "16" "2159838" "2159838" "subst" "4.08844E-6" "00006" "PKD1_002284" "g.2159838T>G" "" "{PKDdb:PKD1;H1777P;1070}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109837T>G" "" "likely benign" "" "0000671996" "0" "30" "16" "2159811" "2159811" "subst" "6.62202E-5" "00006" "PKD1_002283" "g.2159811G>A" "" "{PKDdb:PKD1;P1786L;1588}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109810G>A" "" "likely benign" "" "0000671997" "0" "30" "16" "2159809" "2159809" "subst" "0" "00006" "PKD1_002282" "g.2159809G>A" "" "{PKDdb:PKD1;5359C%3ET;487}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109808G>A" "" "likely benign" "" "0000671998" "0" "90" "16" "2159807" "2159807" "del" "0" "00006" "PKD1_002281" "g.2159807del" "" "{PKDdb:PKD1;5363delG;488}" "" "5363delG (Gly1788fs9X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109806del" "" "pathogenic (dominant)" "" "0000671999" "0" "30" "16" "2159805" "2159805" "subst" "0.000340551" "00006" "PKD1_001077" "g.2159805C>T" "" "{PKDdb:PKD1;G1788D;1015}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109804C>T" "" "likely benign" "" "0000672000" "0" "30" "16" "2159800" "2159800" "subst" "0" "00006" "PKD1_002280" "g.2159800C>G" "" "{PKDdb:PKD1;A1790P;780}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109799C>G" "" "likely benign" "" "0000672001" "0" "30" "16" "2159799" "2159799" "subst" "1.25324E-5" "00006" "PKD1_002279" "g.2159799G>A" "" "{PKDdb:PKD1;A1790V;781}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109798G>A" "" "likely benign" "" "0000672002" "0" "30" "16" "2159795" "2159795" "subst" "0.000687954" "00006" "PKD1_002278" "g.2159795G>A" "" "{PKDdb:PKD1;5373C%3ET;489}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109794G>A" "" "likely benign" "" "0000672003" "0" "30" "16" "2159794" "2159794" "subst" "0" "00006" "PKD1_002277" "g.2159794C>T" "" "{PKDdb:PKD1;A1792T;782}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109793C>T" "" "likely benign" "" "0000672004" "0" "90" "16" "2159773" "2159773" "subst" "0" "00006" "PKD1_002276" "g.2159773G>A" "" "{PKDdb:PKD1;Q1799X;1652}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109772G>A" "" "pathogenic (dominant)" "" "0000672005" "0" "30" "16" "2159765" "2159765" "subst" "3.81958E-5" "00006" "PKD1_002275" "g.2159765A>G" "" "{PKDdb:PKD1;5403T%3EC;492}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109764A>G" "" "likely benign" "" "0000672006" "0" "30" "16" "2159750" "2159750" "subst" "8.42893E-6" "00006" "PKD1_002274" "g.2159750G>T" "" "{PKDdb:PKD1;S1806R;1923}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109749G>T" "" "likely benign" "" "0000672007" "0" "50" "16" "2159737" "2159737" "subst" "2.95428E-5" "00006" "PKD1_000202" "g.2159737C>T" "" "{PKDdb:PKD1;E1811K;918}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109736C>T" "" "VUS" "" "0000672008" "0" "90" "16" "2159692" "2159737" "del" "0" "00006" "PKD1_002269" "g.2159692_2159737del" "" "{PKDdb:PKD1;5432_5477del46ins7;493}" "" "5432_5477delAGCCCGGA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109691_2109736del" "" "pathogenic (dominant)" "" "0000672009" "0" "30" "16" "2159735" "2159735" "subst" "0.000177443" "00006" "PKD1_002273" "g.2159735C>A" "" "{PKDdb:PKD1;E1811D;917}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109734C>A" "" "likely benign" "" "0000672010" "0" "50" "16" "2159719" "2159719" "subst" "6.99662E-5" "00006" "PKD1_002272" "g.2159719C>T" "" "{PKDdb:PKD1;V1817M;2047}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109718C>T" "" "VUS" "" "0000672011" "0" "30" "16" "2159714" "2159714" "subst" "0.00958397" "00006" "PKD1_002271" "g.2159714C>T" "" "{PKDdb:PKD1;5454G%3EA;494}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109713C>T" "" "likely benign" "" "0000672012" "0" "30" "16" "2159710" "2159710" "subst" "6.57759E-5" "00006" "PKD1_002270" "g.2159710C>T" "" "{PKDdb:PKD1;G1820R;1016}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109709C>T" "" "likely benign" "" "0000672013" "0" "90" "16" "2159690" "2159690" "subst" "0" "00006" "PKD1_002268" "g.2159690C>T" "" "{PKDdb:PKD1;W1826X;2108}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109689C>T" "" "pathogenic (dominant)" "" "0000672014" "0" "90" "16" "2159690" "2159691" "dup" "0" "00006" "PKD1_002267" "g.2159690_2159691dup" "" "{PKDdb:PKD1;5481_5482insGG;2382}" "" "5481_5482insGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109689_2109690dup" "" "pathogenic (dominant)" "" "0000672015" "0" "90" "16" "2159686" "2159686" "subst" "0" "00006" "PKD1_000201" "g.2159686G>A" "" "{PKDdb:PKD1;Q1828X;1654}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109685G>A" "" "pathogenic (dominant)" "" "0000672016" "0" "50" "16" "2159685" "2159685" "subst" "0.00024786" "00006" "PKD1_002266" "g.2159685T>C" "" "{PKDdb:PKD1;Q1828R;1653}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109684T>C" "" "VUS" "" "0000672017" "0" "30" "16" "2159683" "2159683" "subst" "5.62506E-6" "00006" "PKD1_002265" "g.2159683G>A" "" "{PKDdb:PKD1;5485C%3ET;495}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109682G>A" "" "likely benign" "" "0000672018" "0" "70" "16" "2159674" "2159674" "subst" "0" "00006" "PKD1_002264" "g.2159674C>T" "" "{PKDdb:PKD1;G1832S;1017}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109673C>T" "" "likely pathogenic (dominant)" "" "0000672019" "0" "90" "16" "2159657" "2159657" "subst" "0" "00006" "PKD1_000200" "g.2159657C>T" "" "{PKDdb:PKD1;W1837X;2109}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109656C>T" "" "pathogenic (dominant)" "" "0000672020" "0" "90" "16" "2159653" "2159653" "del" "0" "00006" "PKD1_002262" "g.2159653del" "" "{PKDdb:PKD1;5515delT;2383}" "" "5515delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109652del" "" "pathogenic (dominant)" "" "0000672021" "0" "70" "16" "2159653" "2159653" "subst" "0" "00006" "PKD1_002263" "g.2159653A>T" "" "{PKDdb:PKD1;W1839R;2110}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109652A>T" "" "likely pathogenic (dominant)" "" "0000672022" "0" "30" "16" "2159627" "2159627" "subst" "0" "00006" "PKD1_002261" "g.2159627C>T" "" "{PKDdb:PKD1;5541G%3EA;497}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109626C>T" "" "likely benign" "" "0000672023" "0" "90" "16" "2159615" "2159616" "del" "0" "00006" "PKD1_002260" "g.2159615_2159616del" "" "{PKDdb:PKD1;5552_5553delAT;498}" "" "5552_5553delAT" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109614_2109615del" "" "pathogenic (dominant)" "" "0000672024" "0" "90" "16" "2159613" "2159613" "dup" "0" "00006" "PKD1_002259" "g.2159613dup" "" "{PKDdb:PKD1;5555_5556insT;499}" "" "5555_5556insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109612dup" "" "pathogenic (dominant)" "" "0000672025" "0" "90" "16" "2159608" "2159608" "dup" "0" "00006" "PKD1_002258" "g.2159608dup" "" "{PKDdb:PKD1;5560_5561insA;2384}" "" "5560_5561insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109607dup" "" "pathogenic (dominant)" "" "0000672026" "0" "90" "16" "2159602" "2159602" "dup" "0" "00006" "PKD1_002257" "g.2159602dup" "" "{PKDdb:PKD1;5567_5568insT;2385}" "" "5567_5568insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109601dup" "" "pathogenic (dominant)" "" "0000672027" "0" "90" "16" "2159597" "2159597" "del" "0" "00006" "PKD1_000058" "g.2159597del" "" "{PKDdb:PKD1;5572delG;500}" "" "5572delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109596del" "" "pathogenic (dominant)" "" "0000672028" "0" "30" "16" "2159591" "2159591" "subst" "0.000324729" "00006" "PKD1_001125" "g.2159591A>G" "" "{PKDdb:PKD1;5577T%3EC;501}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109590A>G" "" "likely benign" "" "0000672029" "0" "30" "16" "2159588" "2159588" "subst" "0" "00006" "PKD1_002256" "g.2159588G>T" "" "{PKDdb:PKD1;5580C%3EA;502}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109587G>T" "" "likely benign" "" "0000672030" "0" "30" "16" "2159586" "2159586" "subst" "3.3109E-5" "00006" "PKD1_000299" "g.2159586G>A" "" "{PKDdb:PKD1;T1861I;2002}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109585G>A" "" "likely benign" "" "0000672031" "0" "90" "16" "2159574" "2159574" "del" "0" "00006" "PKD1_002255" "g.2159574del" "" "{PKDdb:PKD1;5595delG;503}" "" "5595delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109573del" "" "pathogenic (dominant)" "" "0000672032" "0" "50" "16" "2159571" "2159571" "subst" "0" "00006" "PKD1_002254" "g.2159571A>G" "" "{PKDdb:PKD1;L1866P;1469}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109570A>G" "" "VUS" "" "0000672033" "0" "30" "16" "2159570" "2159570" "subst" "0.00079002" "00006" "PKD1_002253" "g.2159570G>A" "" "{PKDdb:PKD1;5598C%3ET;504}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109569G>A" "" "likely benign" "" "0000672034" "0" "70" "16" "2159560" "2159560" "subst" "0" "00006" "PKD1_002252" "g.2159560T>C" "" "{PKDdb:PKD1;N1870D;2513}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109559T>C" "" "likely pathogenic (dominant)" "" "0000672035" "0" "70" "16" "2159560" "2159560" "subst" "0" "00006" "PKD1_000376" "g.2159560T>G" "" "{PKDdb:PKD1;N1870H;1566}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109559T>G" "" "likely pathogenic (dominant)" "" "0000672036" "0" "70" "16" "2159558" "2159558" "subst" "0" "00006" "PKD1_000511" "g.2159558G>C" "" "{PKDdb:PKD1;N1870K;1567}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109557G>C" "" "likely pathogenic (dominant)" "" "0000672037" "0" "30" "16" "2159557" "2159557" "subst" "0.00423894" "00006" "PKD1_000838" "g.2159557C>T" "" "{PKDdb:PKD1;A1871T;783}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109556C>T" "" "likely benign" "" "0000672038" "0" "70" "16" "2159550" "2159550" "subst" "0" "00006" "PKD1_002251" "g.2159550C>A" "" "{PKDdb:PKD1;S1873I;1924}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109549C>A" "" "likely pathogenic (dominant)" "" "0000672039" "0" "90" "16" "2159546" "2159546" "subst" "0" "00006" "PKD1_000036" "g.2159546C>T" "" "{PKDdb:PKD1;W1874X;2111}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109545C>T" "" "pathogenic (dominant)" "" "0000672040" "0" "90" "16" "2159539" "2159540" "delins" "0" "00006" "PKD1_002250" "g.2159539_2159540delinsG" "" "{PKDdb:PKD1;5628_5629delAGinsC;2386}" "" "5628_5629delAGinsC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109538_2109539delinsG" "" "pathogenic (dominant)" "" "0000672041" "0" "30" "16" "2159535" "2159535" "subst" "0.000195202" "00006" "PKD1_002249" "g.2159535G>A" "" "{PKDdb:PKD1;T1878M;2238}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109534G>A" "" "likely benign" "" "0000672042" "0" "90" "16" "2159496" "2159509" "del" "0" "00006" "PKD1_000131" "g.2159496_2159509del" "" "{PKDdb:PKD1;5659_5672del14;505}" "" "5659_5672delATCGTGGG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109495_2109508del" "" "pathogenic (dominant)" "" "0000672043" "0" "30" "16" "2159506" "2159506" "subst" "2.94081E-5" "00006" "PKD1_002248" "g.2159506C>T" "" "{PKDdb:PKD1;V1888M;2048}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109505C>T" "" "likely benign" "" "0000672044" "0" "30" "16" "2159486" "2159486" "subst" "0.00440096" "00006" "PKD1_000837" "g.2159486G>A" "" "{PKDdb:PKD1;5682C%3ET;506}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109485G>A" "" "likely benign" "" "0000672045" "0" "90" "16" "2159461" "2159461" "subst" "0" "00006" "PKD1_002247" "g.2159461G>A" "" "{PKDdb:PKD1;Q1903X;1655}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109460G>A" "" "pathogenic (dominant)" "" "0000672046" "0" "90" "16" "2159446" "2159446" "subst" "0" "00006" "PKD1_002246" "g.2159446G>A" "" "{PKDdb:PKD1;Q1908X;1656}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109445G>A" "" "pathogenic (dominant)" "" "0000672047" "0" "30" "16" "2159429" "2159429" "subst" "4.71949E-5" "00006" "PKD1_002245" "g.2159429G>A" "" "{PKDdb:PKD1;5739C%3ET;509}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109428G>A" "" "likely benign" "" "0000672048" "0" "70" "16" "2159427" "2159427" "subst" "0" "00006" "PKD1_002244" "g.2159427C>G" "" "{PKDdb:PKD1;G1914A;2239}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109426C>G" "" "likely pathogenic (dominant)" "" "0000672049" "0" "90" "16" "2159411" "2159412" "delins" "0" "00006" "PKD1_002243" "g.2159411_2159412delinsTT" "" "{PKDdb:PKD1;F1919X;979}" "" "5756T>A+5757C>A" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109410_2109411delinsTT" "" "pathogenic (dominant)" "" "0000672050" "0" "90" "16" "2159411" "2159411" "del" "0" "00006" "PKD1_002242" "g.2159411del" "" "{PKDdb:PKD1;5758delC;2387}" "" "5758delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109410del" "" "pathogenic (dominant)" "" "0000672051" "0" "30" "16" "2159405" "2159405" "subst" "0.0310929" "00006" "PKD1_000732" "g.2159405C>T" "" "{PKDdb:PKD1;5763G%3EA;510}" "" "" "reported in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109404C>T" "" "likely benign" "" "0000672052" "0" "90" "16" "2159404" "2159404" "subst" "0" "00006" "PKD1_000050" "g.2159404G>A" "" "{PKDdb:PKD1;Q1922X;1657}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109403G>A" "" "pathogenic (dominant)" "" "0000672053" "0" "30" "16" "2159399" "2159399" "subst" "4.78735E-5" "00006" "PKD1_002241" "g.2159399G>A" "" "{PKDdb:PKD1;5769C%3ET;511}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109398G>A" "" "likely benign" "" "0000672054" "0" "30" "16" "2159396" "2159396" "subst" "0.000894314" "00006" "PKD1_002240" "g.2159396G>A" "" "{PKDdb:PKD1;5772C%3ET;512}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109395G>A" "" "likely benign" "" "0000672055" "0" "30" "16" "2159391" "2159391" "subst" "2.1888E-5" "00006" "PKD1_002239" "g.2159391G>A" "" "{PKDdb:PKD1;A1926V;785}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109390G>A" "" "likely benign" "" "0000672056" "0" "30" "16" "2159385" "2159385" "subst" "0.000375628" "00006" "PKD1_000649" "g.2159385G>C" "" "{PKDdb:PKD1;P1928R;1589}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109384G>C" "" "likely benign" "" "0000672057" "0" "90" "16" "2159354" "2159354" "dup" "0" "00006" "PKD1_002238" "g.2159354dup" "" "{PKDdb:PKD1;5813_5814insC;513}" "" "5813_5814insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109353dup" "" "pathogenic (dominant)" "" "0000672058" "0" "90" "16" "2159348" "2159348" "dup" "0" "00006" "PKD1_002237" "g.2159348dup" "" "{PKDdb:PKD1;5824_5825insC;2388}" "" "5824_5825insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109347dup" "" "pathogenic (dominant)" "" "0000672059" "0" "30" "16" "2159343" "2159343" "subst" "3.07771E-5" "00006" "PKD1_002236" "g.2159343C>T" "" "{PKDdb:PKD1;R1942H;1768}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109342C>T" "" "likely benign" "" "0000672060" "0" "30" "16" "2159342" "2159342" "subst" "0.000171386" "00006" "PKD1_002235" "g.2159342G>A" "" "{PKDdb:PKD1;5826C%3ET;514}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109341G>A" "" "likely benign" "" "0000672061" "0" "30" "16" "2159341" "2159341" "subst" "0.0096911" "00006" "PKD1_001075" "g.2159341C>T" "" "{PKDdb:PKD1;V1943I;2049}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109340C>T" "" "likely benign" "" "0000672062" "0" "50" "16" "2159338" "2159338" "subst" "0.00018048" "00006" "PKD1_001074" "g.2159338C>T" "" "{PKDdb:PKD1;G1944R;1018}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109337C>T" "" "VUS" "" "0000672063" "0" "30" "16" "2159321" "2159321" "subst" "0.00655809" "00006" "PKD1_002234" "g.2159321G>A" "" "{PKDdb:PKD1;5847C%3ET;515}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109320G>A" "" "likely benign" "" "0000672064" "0" "50" "16" "2159320" "2159320" "subst" "4.42036E-6" "00006" "PKD1_002233" "g.2159320C>T" "" "{PKDdb:PKD1;V1950M;2050}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109319C>T" "" "VUS" "" "0000672065" "0" "30" "16" "2159313" "2159313" "subst" "0" "00006" "PKD1_002232" "g.2159313C>T" "" "{PKDdb:PKD1;G1952D;1019}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109312C>T" "" "likely benign" "" "0000672066" "0" "90" "16" "2159311" "2159311" "dup" "0" "00006" "PKD1_002231" "g.2159311dup" "" "{PKDdb:PKD1;5861_5862insA;2389}" "" "5861_5862insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109310dup" "" "pathogenic (dominant)" "" "0000672067" "0" "90" "16" "2159302" "2159302" "dup" "0" "00006" "PKD1_000375" "g.2159302dup" "" "{PKDdb:PKD1;5866_5867insG;517}" "" "5866_5867insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109301dup" "" "pathogenic (dominant)" "" "0000672068" "0" "70" "16" "2159301" "2159301" "subst" "0" "00006" "PKD1_000102" "g.2159301A>T" "" "{PKDdb:PKD1;V1956E;2051}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109300A>T" "" "likely pathogenic (dominant)" "" "0000672069" "0" "90" "16" "2159290" "2159290" "subst" "0" "00006" "PKD1_000101" "g.2159290G>A" "" "{PKDdb:PKD1;Q1960X;1658}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109289G>A" "" "pathogenic (dominant)" "" "0000672070" "0" "90" "16" "2159270" "2159270" "del" "0" "00006" "PKD1_002229" "g.2159270del" "" "{PKDdb:PKD1;5899delG;2390}" "" "5899delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109269del" "" "pathogenic (dominant)" "" "0000672071" "0" "70" "16" "2159270" "2159272" "del" "0" "00006" "PKD1_002228" "g.2159270_2159272del" "" "{PKDdb:PKD1;V1967del;2052}" "" "5899_5901delGTG" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109269_2109271del" "" "likely pathogenic (dominant)" "" "0000672072" "0" "50" "16" "2159269" "2159269" "subst" "0" "00006" "PKD1_002230" "g.2159269C>T" "" "{PKDdb:PKD1;V1967M;2053}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109268C>T" "" "VUS" "" "0000672073" "0" "90" "16" "2159263" "2159263" "subst" "0" "00006" "PKD1_002227" "g.2159263C>A" "" "{PKDdb:PKD1;E1969X;919}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109262C>A" "" "pathogenic (dominant)" "" "0000672074" "0" "90" "16" "2159256" "2159257" "del" "0" "00006" "PKD1_002226" "g.2159256_2159257del" "" "{PKDdb:PKD1;5912_5913delTG;2391}" "" "5912_5913delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109255_2109256del" "" "pathogenic (dominant)" "" "0000672075" "0" "90" "16" "2159245" "2159245" "subst" "0" "00006" "PKD1_000510" "g.2159245G>A" "" "{PKDdb:PKD1;Q1975X;1659}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109244G>A" "" "pathogenic (dominant)" "" "0000672076" "0" "70" "16" "2159232" "2159232" "subst" "0" "00006" "PKD1_002225" "g.2159232C>T" "" "{PKDdb:PKD1;C1979Y;2609}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109231C>T" "" "likely pathogenic (dominant)" "" "0000672077" "0" "70" "16" "2159208" "2159208" "subst" "0.000102159" "00006" "PKD1_002223" "g.2159208C>T" "" "{PKDdb:PKD1;G1987D;2610}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109207C>T" "" "likely pathogenic (dominant)" "" "0000672078" "0" "90" "16" "2159202" "2159203" "del" "0" "00006" "PKD1_000645" "g.2159202_2159203del" "" "{PKDdb:PKD1;5967_5968delGA;2392}" "" "5967_5968delGA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109201_2109202del" "" "pathogenic (dominant)" "" "0000672079" "0" "90" "16" "2159202" "2159203" "del" "0" "00006" "PKD1_000645" "g.2159202_2159203del" "" "{PKDdb:PKD1;5968_5969delAG;519}" "" "5968_5969delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109201_2109202del" "" "pathogenic (dominant)" "" "0000672080" "0" "90" "16" "2159152" "2159199" "del" "0" "00006" "PKD1_002215" "g.2159152_2159199del" "" "{PKDdb:PKD1;N1991_W2006del16;2393}" "" "5969_6016del48" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109151_2109198del" "" "pathogenic (dominant)" "" "0000672081" "0" "30" "16" "2159195" "2159195" "subst" "4.66141E-5" "00006" "PKD1_002222" "g.2159195G>A" "" "{PKDdb:PKD1;5973C%3ET;520}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109194G>A" "" "likely benign" "" "0000672082" "0" "70" "16" "2159190" "2159192" "del" "0" "00006" "PKD1_000130" "g.2159190_2159192del" "" "{PKDdb:PKD1;F1992L:T1993del;980}" "" "5976_5978delCAC" "highly likely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109189_2109191del" "" "likely pathogenic (dominant)" "" "0000672083" "0" "70" "16" "2159185" "2159185" "subst" "2.96108E-5" "00006" "PKD1_002221" "g.2159185G>A" "" "{PKDdb:PKD1;R1995C;2611}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109184G>A" "" "likely pathogenic (dominant)" "" "0000672084" "0" "30" "16" "2159184" "2159184" "subst" "3.38295E-5" "00006" "PKD1_002220" "g.2159184C>T" "" "{PKDdb:PKD1;R1995H;1769}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109183C>T" "" "likely benign" "" "0000672085" "0" "70" "16" "2159173" "2159173" "subst" "0" "00006" "PKD1_000374" "g.2159173C>T" "" "{PKDdb:PKD1;G1999S;1021}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109172C>T" "" "likely pathogenic (dominant)" "" "0000672086" "0" "70" "16" "2159172" "2159172" "subst" "0" "00006" "PKD1_002219" "g.2159172C>G" "" "{PKDdb:PKD1;G1999A;1020}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109171C>G" "" "likely pathogenic (dominant)" "" "0000672087" "0" "70" "16" "2159172" "2159172" "subst" "0" "00006" "PKD1_000373" "g.2159172C>A" "" "{PKDdb:PKD1;G1999V;1022}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109171C>A" "" "likely pathogenic (dominant)" "" "0000672088" "0" "90" "16" "2159148" "2159171" "del" "0" "00006" "PKD1_002212" "g.2159148_2159171del" "" "{PKDdb:PKD1;S2000_Y2007del8;2394}" "" "5997_6020del24" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109147_2109170del" "" "pathogenic (dominant)" "" "0000672089" "0" "50" "16" "2159170" "2159170" "subst" "0" "00006" "PKD1_002218" "g.2159170A>G" "" "{PKDdb:PKD1;S2000P;2612}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109169A>G" "" "VUS" "" "0000672090" "0" "30" "16" "2159167" "2159167" "subst" "2.95334E-5" "00006" "PKD1_002217" "g.2159167G>A" "" "{PKDdb:PKD1;R2001W;2240}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109166G>A" "" "likely benign" "" "0000672091" "0" "30" "16" "2159161" "2159161" "subst" "0.000206545" "00006" "PKD1_002216" "g.2159161C>T" "" "{PKDdb:PKD1;A2003T;787}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109160C>T" "" "likely benign" "" "0000672092" "0" "90" "16" "2159158" "2159158" "del" "0" "00006" "PKD1_000372" "g.2159158del" "" "{PKDdb:PKD1;6010delT;521}" "" "6010delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109157del" "" "pathogenic (dominant)" "" "0000672093" "0" "70" "16" "2159150" "2159150" "subst" "0" "00006" "PKD1_002214" "g.2159150C>A" "" "{PKDdb:PKD1;W2006C;2113}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109149C>A" "" "likely pathogenic (dominant)" "" "0000672094" "0" "30" "16" "2159147" "2159147" "subst" "5.03833E-5" "00006" "PKD1_002213" "g.2159147G>A" "" "{PKDdb:PKD1;6021C%3ET;522}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109146G>A" "" "likely benign" "" "0000672095" "0" "50" "16" "2159142" "2159142" "subst" "5.87081E-5" "00006" "PKD1_002211" "g.2159142G>A" "" "{PKDdb:PKD1;S2009L;1926}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109141G>A" "" "VUS" "" "0000672096" "0" "90" "16" "2159137" "2159137" "subst" "0" "00006" "PKD1_002210" "g.2159137G>A" "" "{PKDdb:PKD1;Q2011X;2395}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109136G>A" "" "pathogenic (dominant)" "" "0000672097" "0" "90" "16" "2159128" "2159128" "subst" "0" "00006" "PKD1_000212" "g.2159128G>A" "" "{PKDdb:PKD1;Q2014X;1660}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109127G>A" "" "pathogenic (dominant)" "" "0000672098" "0" "90" "16" "2159118" "2159118" "subst" "0" "00006" "PKD1_000643" "g.2159118G>T" "" "{PKDdb:PKD1;S2017X;1927}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109117G>T" "" "pathogenic (dominant)" "" "0000672099" "0" "50" "16" "2159106" "2159106" "subst" "0" "00006" "PKD1_002209" "g.2159106A>G" "" "{PKDdb:PKD1;L2021P;1470}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109105A>G" "" "VUS" "" "0000672100" "0" "30" "16" "2159105" "2159105" "subst" "5.00751E-5" "00006" "PKD1_002208" "g.2159105C>T" "" "{PKDdb:PKD1;6063G%3EA;524}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109104C>T" "" "likely benign" "" "0000672101" "0" "90" "16" "2159103" "2159103" "subst" "0" "00006" "PKD1_002207" "g.2159103G>T" "" "{PKDdb:PKD1;S2022X;1928}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109102G>T" "" "pathogenic (dominant)" "" "0000672102" "0" "30" "16" "2159090" "2159090" "subst" "0.00193916" "00006" "PKD1_000835" "g.2159090G>A" "" "{PKDdb:PKD1;6078C%3ET;525}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109089G>A" "" "likely benign" "" "0000672103" "0" "90" "16" "2159079" "2159082" "del" "0" "00006" "PKD1_002205" "g.2159079_2159082del" "" "{PKDdb:PKD1;6088_6091del4;526}" "" "6088_6091delCCCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109078_2109081del" "" "pathogenic (dominant)" "" "0000672104" "0" "90" "16" "2159080" "2159080" "del" "0" "00006" "PKD1_002206" "g.2159080del" "" "{PKDdb:PKD1;6090delC;2396}" "" "6090delC" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109079del" "" "pathogenic (dominant)" "" "0000672105" "0" "30" "16" "2159069" "2159069" "subst" "0.000564166" "00006" "PKD1_002204" "g.2159069C>T" "" "{PKDdb:PKD1;6099G%3EA;527}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109068C>T" "" "likely benign" "" "0000672106" "0" "90" "16" "2159053" "2159053" "subst" "0" "00006" "PKD1_000100" "g.2159053G>A" "" "{PKDdb:PKD1;Q2039X;1661}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2109052G>A" "" "pathogenic (dominant)" "" "0000672107" "0" "50" "16" "2159046" "2159046" "subst" "0" "00006" "PKD1_002203" "g.2159046C>G" "" "{PKDdb:PKD1;R2041P;1770}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109045C>G" "" "VUS" "" "0000672108" "0" "90" "16" "2159030" "2159030" "dup" "0" "00006" "PKD1_002202" "g.2159030dup" "" "{PKDdb:PKD1;6140_6141insG;528}" "" "6140_6141insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109029dup" "" "pathogenic (dominant)" "" "0000672109" "0" "90" "16" "2159023" "2159023" "dup" "0" "00006" "PKD1_002201" "g.2159023dup" "" "{PKDdb:PKD1;6145_6146insG;529}" "" "6145_6146insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109022dup" "" "pathogenic (dominant)" "" "0000672110" "0" "70" "16" "2159017" "2159017" "subst" "0.00021938" "00006" "PKD1_000641" "g.2159017G>A" "" "{PKDdb:PKD1;R2051C;1771}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109016G>A" "" "likely pathogenic (dominant)" "" "0000672111" "0" "30" "16" "2159009" "2159009" "subst" "0" "00006" "PKD1_002200" "g.2159009C>G" "" "{PKDdb:PKD1;6159G%3EC;2290}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109008C>G" "" "likely benign" "" "0000672112" "0" "90" "16" "2159002" "2159002" "subst" "0" "00006" "PKD1_000371" "g.2159002C>A" "" "{PKDdb:PKD1;E2056X;920}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2109001C>A" "" "pathogenic (dominant)" "" "0000672113" "0" "90" "16" "2158996" "2158996" "subst" "0" "00006" "PKD1_002199" "g.2158996G>A" "" "{PKDdb:PKD1;Q2058X;1662}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108995G>A" "" "pathogenic (dominant)" "" "0000672114" "0" "30" "16" "2158983" "2158983" "subst" "0.000154054" "00006" "PKD1_002198" "g.2158983T>A" "" "{PKDdb:PKD1;Q2062L;1663}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108982T>A" "" "likely benign" "" "0000672115" "0" "90" "16" "2158969" "2158969" "subst" "0" "00006" "PKD1_000370" "g.2158969G>A" "" "{PKDdb:PKD1;Q2067X;1665}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108968G>A" "" "pathogenic (dominant)" "" "0000672116" "0" "30" "16" "2158968" "2158968" "subst" "2.51218E-5" "00006" "PKD1_002197" "g.2158968T>C" "" "{PKDdb:PKD1;Q2067R;1664}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108967T>C" "" "likely benign" "" "0000672117" "0" "30" "16" "2158964" "2158964" "subst" "0.000363074" "00006" "PKD1_002196" "g.2158964G>A" "" "{PKDdb:PKD1;6204C%3ET;532}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108963G>A" "" "likely benign" "" "0000672118" "0" "30" "16" "2158963" "2158963" "subst" "5.07065E-5" "00006" "PKD1_002195" "g.2158963C>T" "" "{PKDdb:PKD1;G2069S;1023}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108962C>T" "" "likely benign" "" "0000672119" "0" "90" "16" "2158961" "2158962" "delins" "0" "00006" "PKD1_002194" "g.2158961_2158962delinsT" "" "{PKDdb:PKD1;6206_6207delGCinsA;2397}" "" "6206_6207delGCinsA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108960_2108961delinsT" "" "pathogenic (dominant)" "" "0000672120" "0" "90" "16" "2158918" "2158945" "del" "0" "00006" "PKD1_002190" "g.2158918_2158945del" "" "{PKDdb:PKD1;6223_6250del28;533}" "" "6223_6250delCGCTCGGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108917_2108944del" "" "pathogenic (dominant)" "" "0000672121" "0" "30" "16" "2158944" "2158944" "subst" "6.5661E-5" "00006" "PKD1_002193" "g.2158944C>T" "" "{PKDdb:PKD1;R2075H;1772}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108943C>T" "" "likely benign" "" "0000672122" "0" "30" "16" "2158937" "2158937" "subst" "6.32614E-5" "00006" "PKD1_002192" "g.2158937C>T" "" "{PKDdb:PKD1;6231G%3EA;534}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108936C>T" "" "likely benign" "" "0000672123" "0" "30" "16" "2158924" "2158924" "subst" "8.2429E-5" "00006" "PKD1_002191" "g.2158924C>T" "" "{PKDdb:PKD1;A2082T;2241}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108923C>T" "" "likely benign" "" "0000672124" "0" "50" "16" "2158920" "2158920" "subst" "0" "00006" "PKD1_000211" "g.2158920G>A" "" "{PKDdb:PKD1;T2083I;2003}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108919G>A" "" "VUS" "" "0000672125" "0" "30" "16" "2158913" "2158913" "subst" "0" "00006" "PKD1_002188" "g.2158913G>A" "" "{PKDdb:PKD1;6255C%3ET;535}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108912G>A" "" "likely benign" "" "0000672126" "0" "90" "16" "2158916" "2158916" "del" "0" "00006" "PKD1_002189" "g.2158916del" "" "{PKDdb:PKD1;6255delC;536}" "" "6255delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108915del" "" "pathogenic (dominant)" "" "0000672127" "0" "70" "16" "2158893" "2158893" "subst" "0" "00006" "PKD1_000199" "g.2158893T>C" "" "{PKDdb:PKD1;Y2092C;2163}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108892T>C" "" "likely pathogenic (dominant)" "" "0000672128" "0" "30" "16" "2158871" "2158871" "subst" "0.00187878" "00006" "PKD1_001070" "g.2158871C>A" "" "{PKDdb:PKD1;6297G%3ET;539}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108870C>A" "" "likely benign" "" "0000672129" "0" "30" "16" "2158869" "2158869" "subst" "9.0572E-5" "00006" "PKD1_002187" "g.2158869G>A" "" "{PKDdb:PKD1;S2100L;1929}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108868G>A" "" "likely benign" "" "0000672130" "0" "90" "16" "2158861" "2158861" "subst" "0" "00006" "PKD1_000638" "g.2158861G>A" "" "{PKDdb:PKD1;Q2103X;2398}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108860G>A" "" "pathogenic (dominant)" "" "0000672131" "0" "30" "16" "2158838" "2158838" "subst" "5.80511E-6" "00006" "PKD1_002185" "g.2158838G>C" "" "{PKDdb:PKD1;6330C%3EG;542}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108837G>C" "" "likely benign" "" "0000672132" "0" "30" "16" "2158838" "2158838" "subst" "8.12716E-5" "00006" "PKD1_002186" "g.2158838G>A" "" "{PKDdb:PKD1;6330C%3ET;543}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108837G>A" "" "likely benign" "" "0000672133" "0" "30" "16" "2158837" "2158837" "subst" "0.00091047" "00006" "PKD1_000834" "g.2158837C>T" "" "{PKDdb:PKD1;E2111K;921}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108836C>T" "" "likely benign" "" "0000672134" "0" "90" "16" "2158837" "2158837" "subst" "0" "00006" "PKD1_002184" "g.2158837C>A" "" "{PKDdb:PKD1;E2111X;922}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108836C>A" "" "pathogenic (dominant)" "" "0000672135" "0" "30" "16" "2158805" "2158805" "subst" "0.00067166" "00006" "PKD1_002183" "g.2158805G>A" "" "{PKDdb:PKD1;6363C%3ET;545}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108804G>A" "" "likely benign" "" "0000672136" "0" "70" "16" "2158786" "2158786" "subst" "0" "00006" "PKD1_002182" "g.2158786T>G" "" "{PKDdb:PKD1;N2128H;2613}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108785T>G" "" "likely pathogenic (dominant)" "" "0000672137" "0" "70" "16" "2158773" "2158773" "subst" "0.00031295" "00006" "PKD1_001069" "g.2158773A>C" "" "{PKDdb:PKD1;F2132C;981}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108772A>C" "" "likely pathogenic (dominant)" "" "0000672138" "0" "70" "16" "2158773" "2158775" "del" "0" "00006" "PKD1_000636" "g.2158773_2158775del" "" "{PKDdb:PKD1;F2133del;982}" "" "6397_6399delTTC" "likely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108772_2108774del" "" "likely pathogenic (dominant)" "" "0000672139" "0" "50" "16" "2158765" "2158765" "subst" "5.06335E-5" "00006" "PKD1_002181" "g.2158765C>T" "" "{PKDdb:PKD1;A2135T;789}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108764C>T" "" "VUS" "" "0000672140" "0" "90" "16" "2158762" "2158762" "subst" "0" "00006" "PKD1_002180" "g.2158762G>A" "" "{PKDdb:PKD1;Q2136X;1666}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108761G>A" "" "pathogenic (dominant)" "" "0000672141" "0" "30" "16" "2158748" "2158748" "subst" "0" "00006" "PKD1_002179" "g.2158748G>A" "" "{PKDdb:PKD1;6420C%3ET;546}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108747G>A" "" "likely benign" "" "0000672142" "0" "90" "16" "2158744" "2158744" "subst" "0" "00006" "PKD1_000634" "g.2158744G>A" "" "{PKDdb:PKD1;Q2142X;1667}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108743G>A" "" "pathogenic (dominant)" "" "0000672143" "0" "30" "16" "2158729" "2158729" "subst" "0.000247962" "00006" "PKD1_002178" "g.2158729G>A" "" "{PKDdb:PKD1;R2147W;1773}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108728G>A" "" "likely benign" "" "0000672144" "0" "90" "16" "2158707" "2158734" "del" "0" "00006" "PKD1_002173" "g.2158707_2158734del" "" "{PKDdb:PKD1;6440_6467del28;547}" "" "6440_6467delGGGAGCCG..." "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108706_2108733del" "" "pathogenic (dominant)" "" "0000672145" "0" "90" "16" "2158726" "2158726" "subst" "0" "00006" "PKD1_002177" "g.2158726C>A" "" "{PKDdb:PKD1;E2148X;923}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108725C>A" "" "pathogenic (dominant)" "" "0000672146" "0" "90" "16" "2158715" "2158715" "dup" "0" "00006" "PKD1_000298" "g.2158715dup" "" "{PKDdb:PKD1;6454_6455insG;548}" "" "6454_6455insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108714dup" "" "pathogenic (dominant)" "" "0000672147" "0" "30" "16" "2158712" "2158712" "subst" "0.000192198" "00006" "PKD1_002176" "g.2158712G>A" "" "{PKDdb:PKD1;6456C%3ET;549}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108711G>A" "" "likely benign" "" "0000672148" "0" "90" "16" "2158711" "2158711" "dup" "0" "00006" "PKD1_000369" "g.2158711dup" "" "{PKDdb:PKD1;6457_6458insG;550}" "" "6457_6458insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108710dup" "" "pathogenic (dominant)" "" "0000672149" "0" "30" "16" "2158711" "2158711" "subst" "2.9297E-5" "00006" "PKD1_002175" "g.2158711C>T" "" "{PKDdb:PKD1;V2153M;2054}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108710C>T" "" "likely benign" "" "0000672150" "0" "90" "16" "2158707" "2158734" "dup" "0" "00006" "PKD1_002174" "g.2158707_2158734dup" "" "{PKDdb:PKD1;6461_6462ins28;2242}" "" "6461_6462insCCTGCCGGGAGCCGGAGGTGGACGTGGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108706_2108733dup" "" "pathogenic (dominant)" "" "0000672151" "0" "90" "16" "2158696" "2158696" "subst" "0" "00006" "PKD1_000198" "g.2158696G>A" "" "{PKDdb:PKD1;Q2158X;1668}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108695G>A" "" "pathogenic (dominant)" "" "0000672152" "0" "90" "16" "2158692" "2158693" "ins" "0" "00006" "PKD1_002172" "g.2158692_2158693insGGGG" "" "{PKDdb:PKD1;6475_6476ins4;2399}" "" "6475_6476insCCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108691_2108692insGGGG" "" "pathogenic (dominant)" "" "0000672153" "0" "90" "16" "2158685" "2158685" "dup" "0" "00006" "PKD1_002171" "g.2158685dup" "" "{PKDdb:PKD1;6483_6484insG;551}" "" "6483_6484insG" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108684dup" "" "pathogenic (dominant)" "" "0000672154" "0" "30" "16" "2158684" "2158684" "subst" "0" "00006" "PKD1_001068" "g.2158684G>A" "" "{PKDdb:PKD1;R2162W;1775}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108683G>A" "" "likely benign" "" "0000672155" "0" "50" "16" "2158683" "2158683" "subst" "0" "00006" "PKD1_002170" "g.2158683C>T" "" "{PKDdb:PKD1;R2162Q;1774}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108682C>T" "" "VUS" "" "0000672156" "0" "90" "16" "2158681" "2158681" "subst" "0" "00006" "PKD1_000129" "g.2158681G>A" "" "{PKDdb:PKD1;R2163X;1777}" "" "" "definitely pathogenic in ADPKDdb; reported in 6 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108680G>A" "" "pathogenic (dominant)" "" "0000672157" "0" "30" "16" "2158680" "2158680" "subst" "0.0022994" "00006" "PKD1_000730" "g.2158680C>T" "" "{PKDdb:PKD1;R2163Q;1776}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108679C>T" "" "likely benign" "" "0000672158" "0" "90" "16" "2158677" "2158677" "subst" "0" "00006" "PKD1_000197" "g.2158677G>C" "" "{PKDdb:PKD1;S2164X;1930}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108676G>C" "" "pathogenic (dominant)" "" "0000672159" "0" "50" "16" "2158672" "2158672" "subst" "0.00320602" "00006" "PKD1_000297" "g.2158672G>A" "" "{PKDdb:PKD1;R2166C;1778}" "" "" "indeterminate in ADPKDdb; reported in 6 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108671G>A" "" "VUS" "" "0000672160" "0" "90" "16" "2158664" "2158664" "subst" "0" "00006" "PKD1_002169" "g.2158664G>C" "" "{PKDdb:PKD1;Y2168X;2164}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108663G>C" "" "pathogenic (dominant)" "" "0000672161" "0" "90" "16" "2158640" "2158650" "del" "0" "00006" "PKD1_002168" "g.2158640_2158650del" "" "{PKDdb:PKD1;6518_6528del11;2400}" "" "6518_6528delTTGACCTG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108639_2108649del" "" "pathogenic (dominant)" "" "0000672162" "0" "30" "16" "2158628" "2158628" "subst" "0" "00006" "PKD1_002167" "g.2158628G>A" "" "{PKDdb:PKD1;6540C%3ET;552}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108627G>A" "" "likely benign" "" "0000672163" "0" "90" "16" "2158625" "2158625" "subst" "0" "00006" "PKD1_002166" "g.2158625G>C" "" "{PKDdb:PKD1;Y2181X;2401}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108624G>C" "" "pathogenic (dominant)" "" "0000672164" "0" "30" "16" "2158623" "2158623" "subst" "0.00112365" "00006" "PKD1_000296" "g.2158623T>C" "" "{PKDdb:PKD1;Q2182R;1669}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108622T>C" "" "likely benign" "" "0000672165" "0" "90" "16" "2158619" "2158619" "dup" "0" "00006" "PKD1_000368" "g.2158619dup" "" "{PKDdb:PKD1;6549_6550insT;553}" "" "6549_6550insT" "definitely pathogenic in ADPKDdb; reported in 4 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108618dup" "" "pathogenic (dominant)" "" "0000672166" "0" "70" "16" "2158615" "2158615" "subst" "0" "00006" "PKD1_000178" "g.2158615A>C" "" "{PKDdb:PKD1;Y2185D;2165}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108614A>C" "" "likely pathogenic (dominant)" "" "0000672167" "0" "70" "16" "2158609" "2158609" "subst" "0" "00006" "PKD1_002165" "g.2158609A>G" "" "{PKDdb:PKD1;W2187R;2543}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108608A>G" "" "likely pathogenic (dominant)" "" "0000672168" "0" "90" "16" "2158608" "2158608" "subst" "0" "00006" "PKD1_002164" "g.2158608C>T" "" "{PKDdb:PKD1;W2187X;2402}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108607C>T" "" "pathogenic (dominant)" "" "0000672169" "0" "90" "16" "2158598" "2158598" "subst" "0" "00006" "PKD1_002163" "g.2158598A>T" "" "{PKDdb:PKD1;Y2190X;2403}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108597A>T" "" "pathogenic (dominant)" "" "0000672170" "0" "30" "16" "2158596" "2158596" "subst" "0.000206583" "00006" "PKD1_002162" "g.2158596C>T" "" "{PKDdb:PKD1;R2191H;1779}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108595C>T" "" "likely benign" "" "0000672171" "0" "90" "16" "2158588" "2158594" "del" "0" "00006" "PKD1_000035" "g.2158588_2158594del" "" "{PKDdb:PKD1;6574_6580del7;554}" "" "6574_6580delACCGCCA" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108587_2108593del" "" "pathogenic (dominant)" "" "0000672172" "0" "30" "16" "2158592" "2158592" "subst" "0.000156229" "00006" "PKD1_002161" "g.2158592G>A" "" "{PKDdb:PKD1;6576C%3ET;555}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108591G>A" "" "likely benign" "" "0000672173" "0" "90" "16" "2158585" "2158591" "del" "0" "00006" "PKD1_002159" "g.2158585_2158591del" "" "{PKDdb:PKD1;6577_6583del7;2404}" "" "6577_6583delGCCAGCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108584_2108590del" "" "pathogenic (dominant)" "" "0000672174" "0" "90" "16" "2158585" "2158591" "del" "0" "00006" "PKD1_002159" "g.2158585_2158591del" "" "{PKDdb:PKD1;6583_6589del7;556}" "" "6583_6589delTGCCAGC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108584_2108590del" "" "pathogenic (dominant)" "" "0000672175" "0" "90" "16" "2158582" "2158582" "subst" "0" "00006" "PKD1_002160" "g.2158582G>A" "" "{PKDdb:PKD1;Q2196X;1670}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108581G>A" "" "pathogenic (dominant)" "" "0000672176" "0" "30" "16" "2158575" "2158575" "subst" "0.00109014" "00006" "PKD1_002158" "g.2158575G>A" "" "{PKDdb:PKD1;P2198L;1590}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108574G>A" "" "likely benign" "" "0000672177" "0" "30" "16" "2158570" "2158570" "subst" "0.0113835" "00006" "PKD1_000235" "g.2158570G>A" "" "{PKDdb:PKD1;R2200C;1780}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108569G>A" "" "likely benign" "" "0000672178" "0" "30" "16" "2158562" "2158562" "subst" "0.000528494" "00006" "PKD1_002157" "g.2158562C>T" "" "{PKDdb:PKD1;6606G%3EA;557}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108561C>T" "" "likely benign" "" "0000672179" "0" "30" "16" "2158560" "2158560" "subst" "1.9875E-5" "00006" "PKD1_002156" "g.2158560C>T" "" "{PKDdb:PKD1;R2203H;1781}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108559C>T" "" "likely benign" "" "0000672180" "0" "30" "16" "2158547" "2158547" "subst" "0.000192007" "00006" "PKD1_002155" "g.2158547G>C" "" "{PKDdb:PKD1;6621C%3EG;558}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108546G>C" "" "likely benign" "" "0000672181" "0" "90" "16" "2158546" "2158564" "dup" "0" "00006" "PKD1_002154" "g.2158546_2158564dup" "" "{PKDdb:PKD1;6625_6626ins19;2565}" "" "6625_6626insCGTGTGGCCCTGCCCGGCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108545_2108563dup" "" "pathogenic (dominant)" "" "0000672182" "0" "30" "16" "2158543" "2158543" "subst" "8.6201E-6" "00006" "PKD1_002153" "g.2158543C>T" "" "{PKDdb:PKD1;V2209M;2055}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108542C>T" "" "likely benign" "" "0000672183" "0" "30" "16" "2158533" "2158533" "subst" "4.24463E-6" "00006" "PKD1_002152" "g.2158533C>T" "" "{PKDdb:PKD1;S2212N;2311}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108532C>T" "" "likely benign" "" "0000672184" "0" "70" "16" "2158525" "2158525" "subst" "8.43697E-6" "00006" "PKD1_000629" "g.2158525G>A" "" "{PKDdb:PKD1;R2215W;1782}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108524G>A" "" "likely pathogenic (dominant)" "" "0000672185" "0" "30" "16" "2158524" "2158524" "subst" "8.43448E-6" "00006" "PKD1_002151" "g.2158524C>T" "" "{PKDdb:PKD1;R2215Q;2312}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108523C>T" "" "likely benign" "" "0000672186" "0" "70" "16" "2158521" "2158521" "subst" "0" "00006" "PKD1_002150" "g.2158521A>T" "" "{PKDdb:PKD1;L2216Q;2614}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108520A>T" "" "likely pathogenic (dominant)" "" "0000672187" "0" "90" "16" "2158511" "2158525" "del" "0" "00006" "PKD1_000366" "g.2158511_2158525del" "" "{PKDdb:PKD1;V2217_L2221del5;2056}" "" "6650_6664delTGCTGCCG..." "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108510_2108524del" "" "pathogenic (dominant)" "" "0000672188" "0" "90" "16" "2158515" "2158529" "dup" "0" "00006" "PKD1_000367" "g.2158515_2158529dup" "" "{PKDdb:PKD1;P2219_R2220insRLVLP;1592}" "" "6656_6657insTCGGCTGGTGCTGCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108514_2108528dup" "" "pathogenic (dominant)" "" "0000672189" "0" "90" "16" "2158503" "2158517" "del" "0" "00006" "PKD1_000128" "g.2158503_2158517del" "" "{PKDdb:PKD1;P2219_L2223del5;1591}" "" "6657_6671delGCGGCTGG..." "definitely pathogenic in ADPKDdb; reported in 4 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108502_2108516del" "" "pathogenic (dominant)" "" "0000672190" "0" "50" "16" "2158510" "2158510" "subst" "1.28493E-5" "00006" "PKD1_000459" "g.2158510G>A" "" "{PKDdb:PKD1;R2220W;1783}" "" "" "likely hypomorphic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108509G>A" "" "VUS (!)" "" "0000672191" "0" "90" "16" "2158511" "2158525" "dup" "0" "00006" "PKD1_002149" "g.2158511_2158525dup" "" "{PKDdb:PKD1;L2221_A2222insVLPRL;1471}" "" "6664_6665insTGCTGCCGCGGCTGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108510_2108524dup" "" "pathogenic (dominant)" "" "0000672192" "0" "30" "16" "2158503" "2158503" "subst" "0.000662326" "00006" "PKD1_000833" "g.2158503G>A" "" "{PKDdb:PKD1;A2222V;790}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108502G>A" "" "likely benign" "" "0000672193" "0" "30" "16" "2158502" "2158502" "subst" "3.4231E-5" "00006" "PKD1_002148" "g.2158502C>T" "" "{PKDdb:PKD1;6666G%3EA;559}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108501C>T" "" "likely benign" "" "0000672194" "0" "90" "16" "2158497" "2158498" "ins" "0" "00006" "PKD1_002147" "g.2158497_2158498insT" "" "{PKDdb:PKD1;6670_6671insA;560}" "" "6670_6671insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108496_2108497insT" "" "pathogenic (dominant)" "" "0000672195" "0" "50" "16" "2158497" "2158497" "subst" "8.45201E-6" "00006" "PKD1_002146" "g.2158497G>A" "" "{PKDdb:PKD1;P2224L;1593}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108496G>A" "" "VUS" "" "0000672196" "0" "50" "16" "2158488" "2158488" "subst" "0" "00006" "PKD1_002145" "g.2158488T>G" "" "{PKDdb:PKD1;H2227P;1072}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108487T>G" "" "VUS" "" "0000672197" "0" "90" "16" "2158481" "2158481" "subst" "0" "00006" "PKD1_000127" "g.2158481G>T" "" "{PKDdb:PKD1;C2229X;856}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108480G>T" "" "pathogenic (dominant)" "" "0000672198" "0" "70" "16" "2158475" "2158480" "del" "0" "00006" "PKD1_002144" "g.2158475_2158480del" "" "{PKDdb:PKD1;V2231_F2232del2;2057}" "" "6693_6698delGTTTGT" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108474_2108479del" "" "likely pathogenic (dominant)" "" "0000672199" "0" "90" "16" "2158469" "2158472" "del" "0" "00006" "PKD1_002143" "g.2158469_2158472del" "" "{PKDdb:PKD1;6696_6699del4;562}" "" "6696_6699delTGTC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108468_2108471del" "" "pathogenic (dominant)" "" "0000672200" "0" "30" "16" "2158451" "2158451" "subst" "6.14956E-5" "00006" "PKD1_002142" "g.2158451C>T" "" "{PKDdb:PKD1;6717G%3EA;563}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108450C>T" "" "likely benign" "" "0000672201" "0" "90" "16" "2158443" "2158444" "del" "0" "00006" "PKD1_000125" "g.2158443_2158444del" "" "{PKDdb:PKD1;6726_6727delAC;564}" "" "6726_6727delAC" "definitely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108442_2108443del" "" "pathogenic (dominant)" "" "0000672202" "0" "90" "16" "2158443" "2158444" "del" "0" "00006" "PKD1_000125" "g.2158443_2158444del" "" "{PKDdb:PKD1;6727_6728delCA;565}" "" "6727_6728delCA" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108442_2108443del" "" "pathogenic (dominant)" "" "0000672203" "0" "90" "16" "2158439" "2158442" "del" "0" "00006" "PKD1_002141" "g.2158439_2158442del" "" "{PKDdb:PKD1;6727_6730del4;2405}" "" "6727_6730delCAGA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108438_2108441del" "" "pathogenic (dominant)" "" "0000672204" "0" "90" "16" "2158441" "2158441" "subst" "0" "00006" "PKD1_000126" "g.2158441G>A" "" "{PKDdb:PKD1;Q2243X;1671}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108440G>A" "" "pathogenic (dominant)" "" "0000672205" "0" "90" "16" "2158439" "2158440" "del" "0" "00006" "PKD1_002140" "g.2158439_2158440del" "" "{PKDdb:PKD1;6730_6731delAG;567}" "" "6730_6731delAG" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108438_2108439del" "" "pathogenic (dominant)" "" "0000672206" "0" "90" "16" "2158434" "2158434" "del" "0" "00006" "PKD1_000255" "g.2158434del" "" "{PKDdb:PKD1;6734delT;568}" "" "6734delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108433del" "" "pathogenic (dominant)" "" "0000672207" "0" "90" "16" "2158432" "2158432" "subst" "0" "00006" "PKD1_001066" "g.2158432G>A" "" "{PKDdb:PKD1;Q2246X;1672}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108431G>A" "" "pathogenic (dominant)" "" "0000672208" "0" "90" "16" "2158423" "2158424" "ins" "0" "00006" "PKD1_002139" "g.2158423_2158424insT" "" "{PKDdb:PKD1;6744_6745insA;569}" "" "6744_6745insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108422_2108423insT" "" "pathogenic (dominant)" "" "0000672209" "0" "30" "16" "2158419" "2158419" "subst" "0.00234517" "00006" "PKD1_000079" "g.2158419G>A" "" "{PKDdb:PKD1;T2250M;2004}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108418G>A" "" "likely benign" "" "0000672210" "0" "50" "16" "2158405" "2158405" "subst" "2.8598E-5" "00006" "PKD1_001065" "g.2158405G>A" "" "{PKDdb:PKD1;R2255C;1784}" "" "" "likely hypomorphic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108404G>A" "" "VUS (!)" "" "0000672211" "0" "30" "16" "2158397" "2158397" "subst" "4.0843E-6" "00006" "PKD1_002138" "g.2158397C>T" "" "{PKDdb:PKD1;6771G%3EA;570}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108396C>T" "" "likely benign" "" "0000672212" "0" "50" "16" "2158391" "2158391" "subst" "1.22499E-5" "00006" "PKD1_002137" "g.2158391G>T" "" "{PKDdb:PKD1;6777C%3EA;571}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108390G>T" "" "VUS" "" "0000672213" "0" "70" "16" "2158388" "2158390" "del" "0" "00006" "PKD1_000196" "g.2158388_2158390del" "" "{PKDdb:PKD1;I2260del;1095}" "" "6778_6780delATT" "highly likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108387_2108389del" "" "likely pathogenic (dominant)" "" "0000672214" "0" "90" "16" "2158387" "2158387" "del" "0" "00006" "PKD1_002136" "g.2158387del" "" "{PKDdb:PKD1;6781delG;572}" "" "6781delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108386del" "" "pathogenic (dominant)" "" "0000672215" "0" "90" "16" "2158377" "2158377" "subst" "0" "00006" "PKD1_000365" "g.2158377G>C" "" "{PKDdb:PKD1;S2264X;1932}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108376G>C" "" "pathogenic (dominant)" "" "0000672216" "0" "30" "16" "2158376" "2158376" "subst" "0.000114393" "00006" "PKD1_002135" "g.2158376T>G" "" "{PKDdb:PKD1;6792A%3EC;573}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108375T>G" "" "likely benign" "" "0000672217" "0" "90" "16" "2158375" "2158376" "dup" "0" "00006" "PKD1_002134" "g.2158375_2158376dup" "" "{PKDdb:PKD1;6794_6795insTA;574}" "" "6794_6795insTA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108374_2108375dup" "" "pathogenic (dominant)" "" "0000672218" "0" "90" "16" "2158373" "2158373" "subst" "0" "00006" "PKD1_000294" "g.2158373G>T" "" "{PKDdb:PKD1;Y2265X;2166}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108372G>T" "" "pathogenic (dominant)" "" "0000672219" "0" "70" "16" "2158371" "2158371" "subst" "0" "00006" "PKD1_002133" "g.2158371C>G" "" "{PKDdb:PKD1;R2266P;1785}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108370C>G" "" "likely pathogenic (dominant)" "" "0000672220" "0" "30" "16" "2158369" "2158369" "subst" "0.000106356" "00006" "PKD1_002132" "g.2158369C>T" "" "{PKDdb:PKD1;V2267M;2058}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108368C>T" "" "likely benign" "" "0000672221" "0" "90" "16" "2158365" "2158369" "dup" "0" "00006" "PKD1_002131" "g.2158365_2158369dup" "" "{PKDdb:PKD1;6803_6804ins5;2566}" "" "6803_6804insGTGTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108364_2108368dup" "" "pathogenic (dominant)" "" "0000672222" "0" "90" "16" "2158362" "2158362" "subst" "0" "00006" "PKD1_000177" "g.2158362G>C" "" "{PKDdb:PKD1;S2269X;1933}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108361G>C" "" "pathogenic (dominant)" "" "0000672223" "0" "90" "16" "2158359" "2158362" "del" "0" "00006" "PKD1_002130" "g.2158359_2158362del" "" "{PKDdb:PKD1;6806_6809del4;2406}" "" "6806_6809delCAGA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108358_2108361del" "" "pathogenic (dominant)" "" "0000672224" "0" "90" "16" "2158358" "2158359" "del" "0" "00006" "PKD1_000210" "g.2158358_2158359del" "" "{PKDdb:PKD1;6813_6814delAC;576}" "" "6813_6814delAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108357_2108358del" "" "pathogenic (dominant)" "" "0000672225" "0" "30" "16" "2158353" "2158353" "subst" "2.86664E-5" "00006" "PKD1_002129" "g.2158353C>T" "" "{PKDdb:PKD1;R2272Q;1786}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108352C>T" "" "likely benign" "" "0000672226" "0" "70" "16" "2158336" "2158336" "subst" "0" "00006" "PKD1_000364" "g.2158336C>T" "" "{PKDdb:PKD1;G2278R;1024}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108335C>T" "" "likely pathogenic (dominant)" "" "0000672227" "0" "70" "16" "2158327" "2158327" "subst" "0" "00006" "PKD1_002128" "g.2158327A>G" "" "{PKDdb:PKD1;S2281P;1934}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108326A>G" "" "likely pathogenic (dominant)" "" "0000672228" "0" "30" "16" "2158325" "2158325" "subst" "4.10762E-6" "00006" "PKD1_002127" "g.2158325G>C" "" "{PKDdb:PKD1;6843C%3EG;577}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108324G>C" "" "likely benign" "" "0000672229" "0" "70" "16" "2158323" "2158323" "subst" "0" "00006" "PKD1_002126" "g.2158323T>C" "" "{PKDdb:PKD1;Y2282C;2544}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108322T>C" "" "likely pathogenic (dominant)" "" "0000672230" "0" "30" "16" "2158304" "2158304" "subst" "0.000152913" "00006" "PKD1_002125" "g.2158304G>A" "" "{PKDdb:PKD1;6864C%3ET;578}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108303G>A" "" "likely benign" "" "0000672231" "0" "90" "16" "2158297" "2158297" "subst" "0" "00006" "PKD1_000363" "g.2158297G>A" "" "{PKDdb:PKD1;Q2291X;1674}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108296G>A" "" "pathogenic (dominant)" "" "0000672232" "0" "30" "16" "2158290" "2158290" "subst" "0.000124777" "00006" "PKD1_002124" "g.2158290G>A" "" "{PKDdb:PKD1;P2293L;1594}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108289G>A" "" "likely benign" "" "0000672233" "0" "90" "16" "2158285" "2158286" "del" "0" "00006" "PKD1_000481" "g.2158285_2158286del" "" "{PKDdb:PKD1;6882_6883delCA;579}" "" "6882_6883delCA (Lys2294fs18X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108284_2108285del" "" "pathogenic (dominant)" "" "0000672234" "0" "50" "16" "2158279" "2158279" "subst" "0" "00006" "PKD1_002123" "g.2158279G>A" "" "{PKDdb:PKD1;H2297Y;1074}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108278G>A" "" "VUS" "" "0000672235" "0" "70" "16" "2158278" "2158278" "subst" "0" "00006" "PKD1_000362" "g.2158278T>G" "" "{PKDdb:PKD1;H2297P;1073}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108277T>G" "" "likely pathogenic (dominant)" "" "0000672236" "0" "70" "16" "2158276" "2158276" "subst" "0" "00006" "PKD1_002122" "g.2158276A>C" "" "{PKDdb:PKD1;W2298G;2545}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108275A>C" "" "likely pathogenic (dominant)" "" "0000672237" "0" "90" "16" "2158275" "2158275" "subst" "4.16372E-6" "00006" "PKD1_002121" "g.2158275C>T" "" "{PKDdb:PKD1;W2298X;2407}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108274C>T" "" "pathogenic (dominant)" "" "0000672238" "0" "30" "16" "2158263" "2158263" "subst" "0" "00006" "PKD1_002120" "g.2158263G>C" "" "{PKDdb:PKD1;A2302G;791}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108262G>C" "" "likely benign" "" "0000672239" "0" "30" "16" "2158259" "2158259" "subst" "4.21216E-5" "00006" "PKD1_002119" "g.2158259C>T" "" "{PKDdb:PKD1;6909G%3EA;580}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108258C>T" "" "likely benign" "" "0000672240" "0" "90" "16" "2158257" "2158258" "del" "0" "00006" "PKD1_002118" "g.2158257_2158258del" "" "{PKDdb:PKD1;6913_6914delCA;581}" "" "6913_6914delCA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108256_2108257del" "" "pathogenic (dominant)" "" "0000672241" "0" "90" "16" "2158252" "2158252" "subst" "0" "00006" "PKD1_002117" "g.2158252C>T" "" "{PKDdb:PKD1;IVS15~1G%3EA;1151}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108251C>T" "" "pathogenic (dominant)" "" "0000672242" "0" "90" "16" "2158251" "2158251" "subst" "0" "00006" "PKD1_002116" "g.2158251A>C" "" "{PKDdb:PKD1;IVS15~2T%3EG;1155}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108250A>C" "" "pathogenic (dominant)" "" "0000672243" "0" "70" "16" "2158249" "2158249" "subst" "8.48644E-6" "00006" "PKD1_002115" "g.2158249T>C" "" "{PKDdb:PKD1;IVS15~4A%3EG;1156}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108248T>C" "" "likely pathogenic (dominant)" "" "0000672244" "0" "30" "16" "2158239" "2158239" "subst" "0.000896335" "00006" "PKD1_002114" "g.2158239T>C" "" "{PKDdb:PKD1;IVS15~14A%3EG;1150}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108238T>C" "" "likely benign" "" "0000672245" "0" "30" "16" "2158233" "2158233" "subst" "0.000924932" "00006" "PKD1_002113" "g.2158233C>T" "" "{PKDdb:PKD1;IVS15~20G%3EA;1152}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108232C>T" "" "likely benign" "" "0000672246" "0" "30" "16" "2158231" "2158231" "subst" "0.000658905" "00006" "PKD1_000625" "g.2158231G>A" "" "{PKDdb:PKD1;IVS15~22C%3ET;1153}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108230G>A" "" "likely benign" "" "0000672247" "0" "30" "16" "2158226" "2158226" "subst" "0.000101047" "00006" "PKD1_002112" "g.2158226T>G" "" "{PKDdb:PKD1;IVS15~27A%3EC;1154}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108225T>G" "" "likely benign" "" "0000672248" "0" "30" "16" "2158058" "2158058" "subst" "3.23332E-5" "00006" "PKD1_002111" "g.2158058C>A" "" "{PKDdb:PKD1;IVS15-25G%3ET;1158}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108057C>A" "" "likely benign" "" "0000672249" "0" "70" "16" "2158043" "2158043" "subst" "0" "00006" "PKD1_002110" "g.2158043G>T" "" "{PKDdb:PKD1;IVS15-10C%3EA;1157}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108042G>T" "" "likely pathogenic (dominant)" "" "0000672250" "0" "70" "16" "2158042" "2158042" "subst" "0" "00006" "PKD1_000622" "g.2158042C>T" "" "{PKDdb:PKD1;IVS15-9G%3EA;1159}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108041C>T" "" "likely pathogenic (dominant)" "" "0000672251" "0" "90" "16" "2158030" "2158030" "subst" "0" "00006" "PKD1_000358" "g.2158030C>A" "" "{PKDdb:PKD1;E2307X;925}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108029C>A" "" "pathogenic (dominant)" "" "0000672252" "0" "30" "16" "2158022" "2158022" "subst" "0.0130544" "00006" "PKD1_002109" "g.2158022G>A" "" "{PKDdb:PKD1;6927C%3ET;582}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2108021G>A" "" "likely benign" "" "0000672253" "0" "30" "16" "2158021" "2158021" "subst" "0.000336946" "00006" "PKD1_002108" "g.2158021C>T" "" "{PKDdb:PKD1;G2310R;1025}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108020C>T" "" "likely benign" "" "0000672254" "0" "30" "16" "2158015" "2158015" "subst" "7.0931E-6" "00006" "PKD1_002107" "g.2158015C>T" "" "{PKDdb:PKD1;A2312T;792}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108014C>T" "" "likely benign" "" "0000672255" "0" "30" "16" "2158014" "2158014" "subst" "0.000361635" "00006" "PKD1_002106" "g.2158014G>A" "" "{PKDdb:PKD1;A2312V;793}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108013G>A" "" "likely benign" "" "0000672256" "0" "30" "16" "2158013" "2158013" "subst" "3.54962E-5" "00006" "PKD1_002105" "g.2158013C>T" "" "{PKDdb:PKD1;6936G%3EA;584}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2108012C>T" "" "likely benign" "" "0000672257" "0" "90" "16" "2158000" "2158000" "del" "0" "00006" "PKD1_000357" "g.2158000del" "" "{PKDdb:PKD1;6952delC;585}" "" "6952delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107999del" "" "pathogenic (dominant)" "" "0000672258" "0" "50" "16" "2157997" "2157997" "subst" "0" "00006" "PKD1_002104" "g.2157997G>A" "" "{PKDdb:PKD1;R2318C;1787}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107996G>A" "" "VUS" "" "0000672259" "0" "30" "16" "2157996" "2157996" "subst" "0" "00006" "PKD1_002103" "g.2157996C>T" "" "{PKDdb:PKD1;R2318H;1788}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107995C>T" "" "likely benign" "" "0000672260" "0" "90" "16" "2157973" "2157986" "del" "0" "00006" "PKD1_000166" "g.2157973_2157986del" "" "{PKDdb:PKD1;6968del14;586}" "" "6968_6981delTCACCATT..." "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107972_2107985del" "" "pathogenic (dominant)" "" "0000672261" "0" "30" "16" "2157970" "2157970" "subst" "0.000270356" "00006" "PKD1_002102" "g.2157970G>A" "" "{PKDdb:PKD1;R2327W;1789}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107969G>A" "" "likely benign" "" "0000672262" "0" "50" "16" "2157964" "2157964" "subst" "0" "00006" "PKD1_000077" "g.2157964G>A" "" "{PKDdb:PKD1;R2329W;1791}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107963G>A" "" "VUS" "" "0000672263" "0" "30" "16" "2157963" "2157963" "subst" "4.15478E-5" "00006" "PKD1_000729" "g.2157963C>T" "" "{PKDdb:PKD1;R2329Q;1790}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107962C>T" "" "likely benign" "" "0000672264" "0" "90" "16" "2157961" "2157961" "del" "0" "00006" "PKD1_002101" "g.2157961del" "" "{PKDdb:PKD1;6988delC;587}" "" "6988delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107960del" "" "pathogenic (dominant)" "" "0000672265" "0" "90" "16" "2157959" "2157965" "del" "0" "00006" "PKD1_000099" "g.2157959_2157965del" "" "{PKDdb:PKD1;6994_7000del7;588}" "" "6994_7000delGCTGGCG" "definitely pathogenic in ADPKDdb; reported in 6 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107958_2107964del" "" "pathogenic (dominant)" "" "0000672266" "0" "90" "16" "2157947" "2157953" "del" "0" "00006" "PKD1_002100" "g.2157947_2157953del" "" "{PKDdb:PKD1;6996_7002del7;2408}" "" "6996_7002delTGGCGTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107946_2107952del" "" "pathogenic (dominant)" "" "0000672267" "0" "90" "16" "2157959" "2157965" "dup" "0" "00006" "PKD1_000124" "g.2157959_2157965dup" "" "{PKDdb:PKD1;7000_7001ins7;589}" "" "7000_7001insGCTGGCG" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107958_2107964dup" "" "pathogenic (dominant)" "" "0000672268" "0" "90" "16" "2157946" "2157946" "subst" "0" "00006" "PKD1_002099" "g.2157946C>A" "" "{PKDdb:PKD1;E2335X;926}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107945C>A" "" "pathogenic (dominant)" "" "0000672269" "0" "70" "16" "2157943" "2157943" "subst" "0" "00006" "PKD1_000123" "g.2157943A>C" "" "{PKDdb:PKD1;Y2336D;2168}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107942A>C" "" "likely pathogenic (dominant)" "" "0000672270" "0" "30" "16" "2157941" "2157941" "subst" "0" "00006" "PKD1_002098" "g.2157941G>A" "" "{PKDdb:PKD1;7008C%3ET;590}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107940G>A" "" "likely benign" "" "0000672271" "0" "90" "16" "2157941" "2157941" "subst" "0" "00006" "PKD1_000076" "g.2157941G>T" "" "{PKDdb:PKD1;Y2336X;2169}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107940G>T" "" "pathogenic (dominant)" "" "0000672272" "0" "70" "16" "2157939" "2157939" "subst" "1.40578E-5" "00006" "PKD1_002097" "g.2157939G>A" "" "{PKDdb:PKD1;T2337I;2006}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107938G>A" "" "likely pathogenic (dominant)" "" "0000672273" "0" "70" "16" "2157936" "2157941" "del" "0" "00006" "PKD1_000509" "g.2157936_2157941del" "" "{PKDdb:PKD1;T2337_F2338del2;2005}" "" "7010_7015delCCTTCA" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107935_2107940del" "" "likely pathogenic (dominant)" "" "0000672274" "0" "90" "16" "2157920" "2157920" "subst" "0" "00006" "PKD1_000356" "g.2157920C>T" "" "{PKDdb:PKD1;W2343X;2115}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107919C>T" "" "pathogenic (dominant)" "" "0000672275" "0" "90" "16" "2157904" "2157904" "subst" "0" "00006" "PKD1_002096" "g.2157904C>A" "" "{PKDdb:PKD1;E2349X;927}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107903C>A" "" "pathogenic (dominant)" "" "0000672276" "0" "90" "16" "2157889" "2157889" "subst" "0" "00006" "PKD1_002095" "g.2157889G>A" "" "{PKDdb:PKD1;Q2354X;1676}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107888G>A" "" "pathogenic (dominant)" "" "0000672277" "0" "70" "16" "2157888" "2157888" "subst" "0" "00006" "PKD1_002094" "g.2157888T>C" "" "{PKDdb:PKD1;Q2354R;1675}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107887T>C" "" "likely pathogenic (dominant)" "" "0000672278" "0" "90" "16" "2157883" "2157883" "subst" "0" "00006" "PKD1_002092" "g.2157883C>G" "" "{PKDdb:PKD1;IVS16~1G%3EC;1161}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107882C>G" "" "pathogenic (dominant)" "" "0000672279" "0" "90" "16" "2157883" "2157883" "subst" "0" "00006" "PKD1_002093" "g.2157883C>A" "" "{PKDdb:PKD1;IVS16~1G%3ET;1162}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107882C>A" "" "pathogenic (dominant)" "" "0000672280" "0" "90" "16" "2155865" "2156950" "del" "0" "00006" "PKD1_001956" "g.(2155476_2155865)_(2156950_2157883)del" "" "{PKDdb:PKD1;IVS16-IVS21del5kb*;1168}" "" "IVS16-IVS21del 5kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2105475_2105864)_(2106949_2107882)del" "" "pathogenic (dominant)" "" "0000672281" "0" "70" "16" "2157879" "2157879" "subst" "0" "00006" "PKD1_002091" "g.2157879C>G" "" "{PKDdb:PKD1;IVS16~5G%3EC;1164}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107878C>G" "" "likely pathogenic (dominant)" "" "0000672282" "0" "30" "16" "2157874" "2157874" "subst" "0.000226578" "00006" "PKD1_000937" "g.2157874C>T" "" "{PKDdb:PKD1;IVS16~10G%3EA;1160}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2107873C>T" "" "likely benign" "" "0000672283" "0" "30" "16" "2157863" "2157863" "subst" "0.00100315" "00006" "PKD1_002090" "g.2157863C>T" "" "{PKDdb:PKD1;IVS16~21G%3EA;1163}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2107862C>T" "" "likely benign" "" "0000672284" "0" "70" "16" "2156958" "2156966" "del" "0" "00006" "PKD1_002088" "g.2156958_2156966del" "" "{PKDdb:PKD1;IVS16-16_-8del9;2546}" "" "7066-16_-8delCCCACTC..." "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106957_2106965del" "" "likely pathogenic (dominant)" "" "0000672285" "0" "50" "16" "2156958" "2156958" "subst" "0.000115432" "00006" "PKD1_002089" "g.2156958G>T" "" "{PKDdb:PKD1;IVS16-9C%3EA;1167}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106957G>T" "" "VUS" "" "0000672286" "0" "30" "16" "2156954" "2156954" "subst" "0.00115167" "00006" "PKD1_000618" "g.2156954C>T" "" "{PKDdb:PKD1;IVS16-5G%3EA;1166}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106953C>T" "" "likely benign" "" "0000672287" "0" "70" "16" "2156952" "2156952" "subst" "0" "00006" "PKD1_002087" "g.2156952G>C" "" "{PKDdb:PKD1;IVS16-3C%3EG;1165}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106951G>C" "" "likely pathogenic (dominant)" "" "0000672288" "0" "90" "16" "2156951" "2156951" "subst" "0" "00006" "PKD1_002086" "g.2156951T>C" "" "{PKDdb:PKD1;IVS16-2A%3EG;2409}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106950T>C" "" "pathogenic (dominant)" "" "0000672289" "0" "30" "16" "2156938" "2156938" "subst" "0.0042717" "00006" "PKD1_002085" "g.2156938C>G" "" "{PKDdb:PKD1;7077G%3EC;591}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106937C>G" "" "likely benign" "" "0000672290" "0" "70" "16" "2156927" "2156927" "subst" "0" "00006" "PKD1_002084" "g.2156927A>T" "" "{PKDdb:PKD1;V2363E;2059}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106926A>T" "" "likely pathogenic (dominant)" "" "0000672291" "0" "70" "16" "2156907" "2156907" "subst" "0" "00006" "PKD1_000234" "g.2156907A>G" "" "{PKDdb:PKD1;C2370R;859}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106906A>G" "" "likely pathogenic (dominant)" "" "0000672292" "0" "70" "16" "2156907" "2156907" "subst" "0" "00006" "PKD1_000355" "g.2156907A>T" "" "{PKDdb:PKD1;C2370S;860}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106906A>T" "" "likely pathogenic (dominant)" "" "0000672293" "0" "90" "16" "2156905" "2156905" "subst" "0" "00006" "PKD1_000122" "g.2156905A>T" "" "{PKDdb:PKD1;C2370X;861}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106904A>T" "" "pathogenic (dominant)" "" "0000672294" "0" "90" "16" "2156904" "2156904" "del" "0" "00006" "PKD1_002083" "g.2156904del" "" "{PKDdb:PKD1;7111delG;592}" "" "7111delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106903del" "" "pathogenic (dominant)" "" "0000672295" "0" "90" "16" "2156907" "2156908" "del" "0" "00006" "PKD1_000121" "g.2156907_2156908del" "" "{PKDdb:PKD1;7113_7114delGT;593}" "" "7113_7114delGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106906_2106907del" "" "pathogenic (dominant)" "" "0000672296" "0" "90" "16" "2156901" "2156901" "dup" "0" "00006" "PKD1_002081" "g.2156901dup" "" "{PKDdb:PKD1;7114_7115insT;594}" "" "7114_7115insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106900dup" "" "pathogenic (dominant)" "" "0000672297" "0" "70" "16" "2156901" "2156901" "subst" "0" "00006" "PKD1_002082" "g.2156901A>G" "" "{PKDdb:PKD1;S2372P;1936}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106900A>G" "" "likely pathogenic (dominant)" "" "0000672298" "0" "70" "16" "2156900" "2156900" "subst" "0" "00006" "PKD1_002079" "g.2156900G>C" "" "{PKDdb:PKD1;S2372C;2514}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106899G>C" "" "likely pathogenic (dominant)" "" "0000672299" "0" "70" "16" "2156900" "2156900" "subst" "0" "00006" "PKD1_002080" "g.2156900G>A" "" "{PKDdb:PKD1;S2372F;1935}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106899G>A" "" "likely pathogenic (dominant)" "" "0000672300" "0" "30" "16" "2156899" "2156899" "subst" "0" "00006" "PKD1_002078" "g.2156899G>C" "" "{PKDdb:PKD1;7116C%3EG;595}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106898G>C" "" "likely benign" "" "0000672301" "0" "70" "16" "2156897" "2156897" "subst" "0" "00006" "PKD1_000233" "g.2156897C>T" "" "{PKDdb:PKD1;C2373Y;863}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106896C>T" "" "likely pathogenic (dominant)" "" "0000672302" "0" "90" "16" "2156896" "2156896" "subst" "0" "00006" "PKD1_002077" "g.2156896G>T" "" "{PKDdb:PKD1;C2373X;862}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106895G>T" "" "pathogenic (dominant)" "" "0000672303" "0" "70" "16" "2156891" "2156891" "subst" "0.000341112" "00006" "PKD1_002076" "g.2156891G>A" "" "{PKDdb:PKD1;A2375V;794}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106890G>A" "" "likely pathogenic (dominant)" "" "0000672304" "0" "90" "16" "2156889" "2156889" "subst" "0" "00006" "PKD1_000194" "g.2156889G>A" "" "{PKDdb:PKD1;Q2376X;1677}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106888G>A" "" "pathogenic (dominant)" "" "0000672305" "0" "30" "16" "2156881" "2156881" "subst" "0" "00006" "PKD1_002075" "g.2156881C>A" "" "{PKDdb:PKD1;7134G%3ET;596}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106880C>A" "" "likely benign" "" "0000672306" "0" "70" "16" "2156879" "2156879" "subst" "0" "00006" "PKD1_002074" "g.2156879T>C" "" "{PKDdb:PKD1;Y2379C;2170}" "" "" "highly likely pathogenic in ADPKDdb; reported in 5 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106878T>C" "" "likely pathogenic (dominant)" "" "0000672307" "0" "90" "16" "2156878" "2156878" "subst" "0" "00006" "PKD1_002073" "g.2156878G>C" "" "{PKDdb:PKD1;Y2379X;2410}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106877G>C" "" "pathogenic (dominant)" "" "0000672308" "0" "90" "16" "2156877" "2156877" "subst" "0" "00006" "PKD1_002072" "g.2156877C>A" "" "{PKDdb:PKD1;E2380X;928}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106876C>A" "" "pathogenic (dominant)" "" "0000672309" "0" "30" "16" "2156868" "2156868" "subst" "1.00052E-5" "00006" "PKD1_002071" "g.2156868G>A" "" "{PKDdb:PKD1;R2383C;1792}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106867G>A" "" "likely benign" "" "0000672310" "0" "70" "16" "2156867" "2156867" "subst" "7.05731E-5" "00006" "PKD1_002070" "g.2156867C>T" "" "{PKDdb:PKD1;R2383H;1793}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106866C>T" "" "likely pathogenic (dominant)" "" "0000672311" "0" "90" "16" "2156859" "2156859" "dup" "0" "00006" "PKD1_000508" "g.2156859dup" "" "{PKDdb:PKD1;7156_7157insT;597}" "" "7156_7157insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106858dup" "" "pathogenic (dominant)" "" "0000672312" "0" "90" "16" "2156857" "2156857" "subst" "0" "00006" "PKD1_002069" "g.2156857G>C" "" "{PKDdb:PKD1;Y2386X;2411}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106856G>C" "" "pathogenic (dominant)" "" "0000672313" "0" "30" "16" "2156850" "2156850" "subst" "0.142392" "00006" "PKD1_000728" "g.2156850A>G" "" "{PKDdb:PKD1;7165T%3EC;598}" "" "" "reported in 14 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106849A>G" "" "likely benign" "" "0000672314" "0" "70" "16" "2156846" "2156848" "del" "0" "00006" "PKD1_002068" "g.2156846_2156848del" "" "{PKDdb:PKD1;E2390del;929}" "" "7169_7171delAGG" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106845_2106847del" "" "likely pathogenic (dominant)" "" "0000672315" "0" "70" "16" "2156843" "2156843" "subst" "0" "00006" "PKD1_000480" "g.2156843C>T" "" "{PKDdb:PKD1;G2391D;1026}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106842C>T" "" "likely pathogenic (dominant)" "" "0000672316" "0" "50" "16" "2156840" "2156840" "subst" "0" "00006" "PKD1_002067" "g.2156840C>G" "" "{PKDdb:PKD1;R2392P;1794}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106839C>G" "" "VUS" "" "0000672317" "0" "90" "16" "2156838" "2156839" "ins" "0" "00006" "PKD1_000056" "g.2156838_2156839insAAATTGAGGCA" "" "{PKDdb:PKD1;7186_7187ins11;600}" "" "7186_7187insTTGCCTCAATT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106837_2106838insAAATTGAGGCA" "" "pathogenic (dominant)" "" "0000672318" "0" "30" "16" "2156825" "2156825" "subst" "0.000132939" "00006" "PKD1_002066" "g.2156825C>T" "" "{PKDdb:PKD1;S2397N;1937}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106824C>T" "" "likely benign" "" "0000672319" "0" "90" "16" "2156814" "2156814" "del" "0" "00006" "PKD1_002065" "g.2156814del" "" "{PKDdb:PKD1;7202delA;601}" "" "7202delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106813del" "" "pathogenic (dominant)" "" "0000672320" "0" "90" "16" "2156811" "2156811" "subst" "0" "00006" "PKD1_000098" "g.2156811G>A" "" "{PKDdb:PKD1;R2402X;1795}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106810G>A" "" "pathogenic (dominant)" "" "0000672321" "0" "90" "16" "2156567" "2156812" "dup" "0" "00006" "PKD1_002045" "g.2156567_2156812dup" "" "{PKDdb:PKD1;7328_7329insIVS17~1_7328 (246bp);606}" "" "7328_7329ins7209+1_7..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106566_2106811dup" "" "pathogenic (dominant)" "" "0000672322" "0" "70" "16" "2156802" "2156805" "del" "0" "00006" "PKD1_000354" "g.2156802_2156805del" "" "{PKDdb:PKD1;IVS17~4_~7delAGTG;1170}" "" "7209+4_+7delAGTG" "highly likely pathogenic in ADPKDdb; reported in 2 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106801_2106804del" "" "likely pathogenic (dominant)" "" "0000672323" "0" "30" "16" "2156790" "2156790" "subst" "0" "00006" "PKD1_002064" "g.2156790C>T" "" "{PKDdb:PKD1;IVS17~16G%3EA;1169}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106789C>T" "" "likely benign" "" "0000672324" "0" "30" "16" "2156705" "2156705" "subst" "3.09035E-5" "00006" "PKD1_002063" "g.2156705G>T" "" "{PKDdb:PKD1;IVS17-27C%3EA;1172}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106704G>T" "" "likely benign" "" "0000672325" "0" "50" "16" "2156688" "2156688" "subst" "3.62038E-5" "00006" "PKD1_002062" "g.2156688G>T" "" "{PKDdb:PKD1;IVS17-10C%3EA;1171}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106687G>T" "" "VUS" "" "0000672326" "0" "90" "16" "2156680" "2156680" "subst" "0" "00006" "PKD1_002061" "g.2156680T>C" "" "{PKDdb:PKD1;IVS17-2A %3EG;1173}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106679T>C" "" "pathogenic (dominant)" "" "0000672327" "0" "30" "16" "2156678" "2156678" "subst" "0.000238581" "00006" "PKD1_001060" "g.2156678G>A" "" "{PKDdb:PKD1;R2404W;1796}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106677G>A" "" "likely benign" "" "0000672328" "0" "90" "16" "2155322" "2156679" "del" "0" "00006" "PKD1_001927" "g.(2154644_2155322)_(2156679_2156805)del" "" "{PKDdb:PKD1;EX18-EX21del5kb*;973}" "" "EX18-EX21del 5kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2104643_2105321)_(2106678_2106804)del" "" "pathogenic (dominant)" "" "0000672329" "0" "70" "16" "2156675" "2156675" "subst" "0" "00006" "PKD1_002060" "g.2156675A>G" "" "{PKDdb:PKD1;W2405R;2116}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106674A>G" "" "likely pathogenic (dominant)" "" "0000672330" "0" "90" "16" "2156673" "2156673" "subst" "0" "00006" "PKD1_002059" "g.2156673C>T" "" "{PKDdb:PKD1;W2405X;2412}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106672C>T" "" "pathogenic (dominant)" "" "0000672331" "0" "70" "16" "2156666" "2156666" "subst" "8.50461E-5" "00006" "PKD1_000097" "g.2156666G>A" "" "{PKDdb:PKD1;R2408C;1797}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106665G>A" "" "likely pathogenic (dominant)" "" "0000672332" "0" "70" "16" "2156647" "2156647" "subst" "0.000141785" "00006" "PKD1_002058" "g.2156647G>A" "" "{PKDdb:PKD1;T2414M;2007}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106646G>A" "" "likely pathogenic (dominant)" "" "0000672333" "0" "70" "16" "2156644" "2156644" "subst" "0" "00006" "PKD1_002057" "g.2156644A>G" "" "{PKDdb:PKD1;L2415P;1472}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106643A>G" "" "likely pathogenic (dominant)" "" "0000672334" "0" "90" "16" "2156638" "2156638" "del" "0" "00006" "PKD1_002055" "g.2156638del" "" "{PKDdb:PKD1;7250delT;2413}" "" "7250delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106637del" "" "pathogenic (dominant)" "" "0000672335" "0" "70" "16" "2156638" "2156638" "subst" "0" "00006" "PKD1_002056" "g.2156638A>T" "" "{PKDdb:PKD1;L2417Q;2243}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106637A>T" "" "likely pathogenic (dominant)" "" "0000672336" "0" "70" "16" "2156628" "2156630" "del" "0" "00006" "PKD1_000175" "g.2156628_2156630del" "" "{PKDdb:PKD1;T2421del;2008}" "" "7261_7263delACC" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106627_2106629del" "" "likely pathogenic (dominant)" "" "0000672337" "0" "70" "16" "2156623" "2156623" "subst" "0" "00006" "PKD1_000434" "g.2156623G>T" "" "{PKDdb:PKD1;T2422K;2009}" "" "" "highly likely pathogenic in ADPKDdb; reported in 4 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106622G>T" "" "likely pathogenic (dominant)" "" "0000672338" "0" "70" "16" "2156620" "2156620" "subst" "0" "00006" "PKD1_002054" "g.2156620G>A" "" "{PKDdb:PKD1;S2423F;1938}" "" "" "highly likely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106619G>A" "" "likely pathogenic (dominant)" "" "0000672339" "0" "50" "16" "2156617" "2156617" "subst" "0" "00006" "PKD1_000616" "g.2156617G>A" "" "{PKDdb:PKD1;T2424M;2010}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106616G>A" "" "VUS" "" "0000672340" "0" "50" "16" "2156613" "2156613" "subst" "0.00228662" "00006" "PKD1_002053" "g.2156613G>A" "" "{PKDdb:PKD1;7275C%3ET;603}" "" "" "indeterminate in ADPKDdb; reported in 7 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106612G>A" "" "VUS" "" "0000672341" "0" "30" "16" "2156610" "2156610" "subst" "3.88484E-5" "00006" "PKD1_002052" "g.2156610A>G" "" "{PKDdb:PKD1;7278T%3EC;604}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106609A>G" "" "likely benign" "" "0000672342" "0" "30" "16" "2156608" "2156608" "subst" "0.000267733" "00006" "PKD1_002051" "g.2156608G>A" "" "{PKDdb:PKD1;A2427V;795}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106607G>A" "" "likely benign" "" "0000672343" "0" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PKDdb:PKD1;R2430X;1798}" "" "" "definitely pathogenic in ADPKDdb; reported in 14 families in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000672344" "0" "90" "16" "2156580" "2156591" "del" "0" "00006" "PKD1_002049" "g.2156580_2156591del" "" "{PKDdb:PKD1;L2433_G2436del4;1473}" "" "7297_7308delCTGCGGCG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106579_2106590del" "" "pathogenic (dominant)" "" "0000672345" "0" "70" "16" "2156591" "2156593" "del" "0" "00006" "PKD1_000271" "g.2156591_2156593del" "" "{PKDdb:PKD1;L2433del;1474}" "" "7298_7300delTGC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106590_2106592del" "" "likely pathogenic (dominant)" "" "0000672346" "0" "70" "16" "2156588" "2156588" "subst" "0" "00006" "PKD1_000478" "g.2156588G>A" "" "{PKDdb:PKD1;R2434W;1799}" "" "" "highly likely pathogenic in ADPKDdb; reported in 5 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106587G>A" "" "likely pathogenic (dominant)" "" "0000672347" "0" "70" "16" "2156587" "2156587" "subst" "0" "00006" "PKD1_002050" "g.2156587C>T" "" "{PKDdb:PKD1;R2434Q;2244}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106586C>T" "" "likely pathogenic (dominant)" "" "0000672348" "0" "90" "16" "2156580" "2156594" "del" "0" "00006" "PKD1_000353" "g.2156580_2156594del" "" "{PKDdb:PKD1;R2435_R2439del5;1800}" "" "7303_7317delCGGGGCGT..." "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106579_2106593del" "" "pathogenic (dominant)" "" "0000672349" "0" "90" "16" "2156580" "2156580" "dup" "0" "00006" "PKD1_002048" "g.2156580dup" "" "{PKDdb:PKD1;7308_7309insC;605}" "" "7308_7309insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106579dup" "" "pathogenic (dominant)" "" "0000672350" "0" "90" "16" "2156566" "2156567" "ins" "0" "00006" "PKD1_002047" "g.2156566_2156567insN[12]" "" "{PKDdb:PKD1;D2440_G2441ins4;888}" "" "7321_7322ins12" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106565_2106566insN[12]" "" "pathogenic (dominant)" "" "0000672351" "0" "70" "16" "2156566" "2156568" "dup" "0" "00006" "PKD1_000095" "g.2156566_2156568dup" "" "{PKDdb:PKD1;G2441_E2442insG;1027}" "" "7324_7325insGCG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106565_2106567dup" "" "likely pathogenic (dominant)" "" "0000672352" "0" "30" "16" "2156564" "2156564" "subst" "0" "00006" "PKD1_002046" "g.2156564C>G" "" "{PKDdb:PKD1;E2442Q;2245}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106563C>G" "" "likely benign" "" "0000672353" "0" "90" "16" "2156558" "2156560" "dup" "0" "00006" "PKD1_002044" "g.2156558_2156560dup" "" "{PKDdb:PKD1;Y2444X;2246}" "" "7330_7331insGAT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106557_2106559dup" "" "pathogenic (dominant)" "" "0000672354" "0" "70" "16" "2156545" "2156545" "subst" "0" "00006" "PKD1_000293" "g.2156545A>G" "" "{PKDdb:PKD1;L2448P;1475}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106544A>G" "" "likely pathogenic (dominant)" "" "0000672355" "0" "30" "16" "2156544" "2156544" "subst" "0" "00006" "PKD1_002043" "g.2156544G>C" "" "{PKDdb:PKD1;7344C%3EG;607}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106543G>C" "" "likely benign" "" "0000672356" "0" "90" "16" "2156516" "2156516" "subst" "0" "00006" "PKD1_002042" "g.2156516C>A" "" "{PKDdb:PKD1;E2458X;930}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106515C>A" "" "pathogenic (dominant)" "" "0000672357" "0" "70" "16" "2156513" "2156513" "subst" "0" "00006" "PKD1_002041" "g.2156513C>A" "" "{PKDdb:PKD1;G2459C;1028}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106512C>A" "" "likely pathogenic (dominant)" "" "0000672358" "0" "70" "16" "2156512" "2156512" "subst" "0" "00006" "PKD1_002040" "g.2156512C>T" "" "{PKDdb:PKD1;G2459D;2547}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106511C>T" "" "likely pathogenic (dominant)" "" "0000672359" "0" "70" "16" "2156506" "2156506" "subst" "0" "00006" "PKD1_002039" "g.2156506G>T" "" "{PKDdb:PKD1;A2461D;796}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106505G>T" "" "likely pathogenic (dominant)" "" "0000672360" "0" "90" "16" "2156499" "2156508" "del" "0" "00006" "PKD1_000193" "g.2156499_2156508del" "" "{PKDdb:PKD1;7385_7394del10;608}" "" "7385_7394delCCATCCGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106498_2106507del" "" "pathogenic (dominant)" "" "0000672361" "0" "50" "16" "2156500" "2156500" "subst" "0" "00006" "PKD1_002038" "g.2156500A>G" "" "{PKDdb:PKD1;I2463T;1096}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106499A>G" "" "VUS" "" "0000672362" "0" "30" "16" "2156497" "2156497" "subst" "6.89554E-5" "00006" "PKD1_002036" "g.2156497C>T" "" "{PKDdb:PKD1;R2464H;1801}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106496C>T" "" "likely benign" "" "0000672363" "0" "50" "16" "2156497" "2156497" "subst" "1.83881E-5" "00006" "PKD1_002037" "g.2156497C>G" "" "{PKDdb:PKD1;R2464P;1802}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106496C>G" "" "VUS" "" "0000672364" "0" "70" "16" "2156488" "2156488" "subst" "0" "00006" "PKD1_002035" "g.2156488G>A" "" "{PKDdb:PKD1;P2467L;2247}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106487G>A" "" "likely pathogenic (dominant)" "" "0000672365" "0" "90" "16" "2156481" "2156481" "del" "0" "00006" "PKD1_002034" "g.2156481del" "" "{PKDdb:PKD1;7409delC;610}" "" "7409delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106480del" "" "pathogenic (dominant)" "" "0000672366" "0" "70" "16" "2156476" "2156476" "subst" "0" "00006" "PKD1_000165" "g.2156476G>A" "" "{PKDdb:PKD1;P2471L;1595}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106475G>A" "" "likely pathogenic (dominant)" "" "0000672367" "0" "90" "16" "2156473" "2156473" "dup" "0" "00006" "PKD1_002033" "g.2156473dup" "" "{PKDdb:PKD1;7415_7416insT;611}" "" "7415_7416insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106472dup" "" "pathogenic (dominant)" "" "0000672368" "0" "90" "16" "2156472" "2156472" "del" "0" "00006" "PKD1_002032" "g.2156472del" "" "{PKDdb:PKD1;7421delG;2414}" "" "7421delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106471del" "" "pathogenic (dominant)" "" "0000672369" "0" "50" "16" "2156464" "2156464" "subst" "1.07283E-5" "00006" "PKD1_002031" "g.2156464G>A" "" "{PKDdb:PKD1;S2475F;1939}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106463G>A" "" "VUS" "" "0000672370" "0" "90" "16" "2156459" "2156462" "del" "0" "00006" "PKD1_002029" "g.2156459_2156462del" "" "{PKDdb:PKD1;7426_7429del4;612}" "" "7426_7429delTGCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106458_2106461del" "" "pathogenic (dominant)" "" "0000672371" "0" "70" "16" "2156462" "2156462" "subst" "0" "00006" "PKD1_002030" "g.2156462A>T" "" "{PKDdb:PKD1;C2476S;2548}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106461A>T" "" "likely pathogenic (dominant)" "" "0000672372" "0" "90" "16" "2156458" "2156459" "ins" "0" "00006" "PKD1_000264" "g.2156458_2156459insACTGT" "" "{PKDdb:PKD1;7429_7430ins5;613}" "" "7429_7430insACAGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106457_2106458insACTGT" "" "pathogenic (dominant)" "" "0000672373" "0" "30" "16" "2156459" "2156459" "subst" "0.00116944" "00006" "PKD1_001058" "g.2156459G>A" "" "{PKDdb:PKD1;R2477C;1803}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106458G>A" "" "likely benign" "" "0000672374" "0" "30" "16" "2156458" "2156458" "subst" "0.000574281" "00006" "PKD1_000270" "g.2156458C>T" "" "{PKDdb:PKD1;R2477H;1804}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106457C>T" "" "likely benign" "" "0000672375" "0" "30" "16" "2156447" "2156447" "subst" "0.154816" "00006" "PKD1_000725" "g.2156447G>A" "" "{PKDdb:PKD1;7441C%3ET;614}" "" "" "reported in 12 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106446G>A" "" "likely benign" "" "0000672376" "0" "30" "16" "2156442" "2156442" "subst" "0" "00006" "PKD1_002028" "g.2156442G>A" "" "{PKDdb:PKD1;7446C%3ET;615}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106441G>A" "" "likely benign" "" "0000672377" "0" "30" "16" "2156440" "2156440" "subst" "4.63687E-5" "00006" "PKD1_002027" "g.2156440G>A" "" "{PKDdb:PKD1;A2483V;797}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106439G>A" "" "likely benign" "" "0000672378" "0" "90" "16" "2156433" "2156433" "del" "0" "00006" "PKD1_000477" "g.2156433del" "" "{PKDdb:PKD1;7455delC;616}" "" "7455delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106432del" "" "pathogenic (dominant)" "" "0000672379" "0" "30" "16" "2156425" "2156425" "subst" "0.000463563" "00006" "PKD1_000613" "g.2156425G>A" "" "{PKDdb:PKD1;T2488I;2011}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106424G>A" "" "likely benign" "" "0000672380" "0" "70" "16" "2156405" "2156405" "subst" "0" "00006" "PKD1_002026" "g.2156405A>G" "" "{PKDdb:PKD1;C2495R;2549}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106404A>G" "" "likely pathogenic (dominant)" "" "0000672381" "0" "30" "16" "2156403" "2156403" "subst" "1.65799E-5" "00006" "PKD1_002025" "g.2156403G>A" "" "{PKDdb:PKD1;7485C%3ET;617}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106402G>A" "" "likely benign" "" "0000672382" "0" "50" "16" "2156401" "2156401" "subst" "2.74599E-5" "00006" "PKD1_002024" "g.2156401G>A" "" "{PKDdb:PKD1;T2496M;2012}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106400G>A" "" "VUS" "" "0000672383" "0" "50" "16" "2156315" "2156315" "subst" "0" "00006" "PKD1_002022" "g.2156315G>T" "" "{PKDdb:PKD1;IVS18-10C%3EA;2658}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106314G>T" "" "VUS" "" "0000672384" "0" "30" "16" "2156315" "2156315" "subst" "0.000569699" "00006" "PKD1_001056" "g.2156315G>A" "" "{PKDdb:PKD1;IVS18-10C%3ET;1175}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106314G>A" "" "likely benign" "" "0000672385" "0" "70" "16" "2156310" "2156310" "subst" "5.14333E-5" "00006" "PKD1_002021" "g.2156310G>C" "" "{PKDdb:PKD1;IVS18-5C%3EG;1178}" "" "" "likely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106309G>C" "" "likely pathogenic (dominant)" "" "0000672386" "0" "70" "16" "2156308" "2156308" "subst" "0" "00006" "PKD1_002020" "g.2156308G>C" "" "{PKDdb:PKD1;IVS18-3C%3EG;1177}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106307G>C" "" "likely pathogenic (dominant)" "" "0000672387" "0" "90" "16" "2156307" "2156307" "subst" "0" "00006" "PKD1_002019" "g.2156307T>C" "" "{PKDdb:PKD1;IVS18-2A%3EG;1176}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106306T>C" "" "pathogenic (dominant)" "" "0000672388" "0" "30" "16" "2156304" "2156304" "subst" "0" "00006" "PKD1_002018" "g.2156304G>A" "" "{PKDdb:PKD1;7491C%3ET;618}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106303G>A" "" "likely benign" "" "0000672389" "0" "90" "16" "2156302" "2156302" "subst" "0" "00006" "PKD1_002017" "g.2156302C>T" "" "{PKDdb:PKD1;W2498X (7493G%3EA);2117}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106301C>T" "" "pathogenic (dominant)" "" "0000672390" "0" "90" "16" "2156301" "2156301" "subst" "0" "00006" "PKD1_002016" "g.2156301C>T" "" "{PKDdb:PKD1;W2498X (7494G%3EA);2118}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106300C>T" "" "pathogenic (dominant)" "" "0000672391" "0" "90" "16" "2156297" "2156297" "dup" "0" "00006" "PKD1_002015" "g.2156297dup" "" "{PKDdb:PKD1;7498_7499insG;619}" "" "7498_7499insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106296dup" "" "pathogenic (dominant)" "" "0000672392" "0" "30" "16" "2156295" "2156295" "subst" "2.12761E-5" "00006" "PKD1_002014" "g.2156295G>A" "" "{PKDdb:PKD1;7500C%3ET;621}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106294G>A" "" "likely benign" "" "0000672393" "0" "30" "16" "2156292" "2156292" "subst" "0.000229617" "00006" "PKD1_002013" "g.2156292C>T" "" "{PKDdb:PKD1;7503G%3EA;622}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106291C>T" "" "likely benign" "" "0000672394" "0" "30" "16" "2156280" "2156280" "subst" "4.22115E-5" "00006" "PKD1_002012" "g.2156280G>A" "" "{PKDdb:PKD1;7515C%3ET;2291}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106279G>A" "" "likely benign" "" "0000672395" "0" "30" "16" "2156279" "2156279" "subst" "5.4862E-5" "00006" "PKD1_002011" "g.2156279C>T" "" "{PKDdb:PKD1;A2506T;798}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106278C>T" "" "likely benign" "" "0000672396" "0" "30" "16" "2156264" "2156264" "subst" "0" "00006" "PKD1_002010" "g.2156264C>G" "" "{PKDdb:PKD1;A2511P;799}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106263C>G" "" "likely benign" "" "0000672397" "0" "70" "16" "2156260" "2156260" "subst" "0" "00006" "PKD1_002009" "g.2156260A>C" "" "{PKDdb:PKD1;L2512R;1477}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106259A>C" "" "likely pathogenic (dominant)" "" "0000672398" "0" "90" "16" "2156254" "2156255" "ins" "0" "00006" "PKD1_002008" "g.2156254_2156255insN[12]" "" "{PKDdb:PKD1;L2514_R2515ins4;1478}" "" "7540_7541ins12" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106253_2106254insN[12]" "" "pathogenic (dominant)" "" "0000672399" "0" "70" "16" "2156247" "2156252" "del" "0" "00006" "PKD1_002006" "g.2156247_2156252del" "" "{PKDdb:PKD1;R2515_R2516del2;2515}" "" "7543_7548delCGGCGC" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106246_2106251del" "" "likely pathogenic (dominant)" "" "0000672400" "0" "70" "16" "2156249" "2156249" "subst" "0" "00006" "PKD1_000292" "g.2156249G>A" "" "{PKDdb:PKD1;R2516C;1805}" "" "" "highly likely pathogenic in ADPKDdb; reported in 10 families in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106248G>A" "" "likely pathogenic (dominant)" "" "0000672401" "0" "50" "16" "2156248" "2156248" "subst" "0" "00006" "PKD1_002007" "g.2156248C>T" "" "{PKDdb:PKD1;R2516H;1806}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106247C>T" "" "VUS" "" "0000672402" "0" "90" "16" "2156240" "2156240" "subst" "0" "00006" "PKD1_002005" "g.2156240G>A" "" "{PKDdb:PKD1;Q2519X;2415}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106239G>A" "" "pathogenic (dominant)" "" "0000672403" "0" "50" "16" "2156239" "2156239" "subst" "0" "00006" "PKD1_000164" "g.2156239T>A" "" "{PKDdb:PKD1;Q2519L;1678}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106238T>A" "" "VUS" "" "0000672404" "0" "30" "16" "2156229" "2156229" "subst" "0.00041915" "00006" "PKD1_002004" "g.2156229G>A" "" "{PKDdb:PKD1;7566C%3ET;624}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106228G>A" "" "likely benign" "" "0000672405" "0" "90" "16" "2156228" "2156228" "subst" "0" "00006" "PKD1_000352" "g.2156228C>A" "" "{PKDdb:PKD1;E2523X;931}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106227C>A" "" "pathogenic (dominant)" "" "0000672406" "0" "90" "16" "2156225" "2156225" "subst" "0" "00006" "PKD1_002003" "g.2156225C>A" "" "{PKDdb:PKD1;E2524X;932}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106224C>A" "" "pathogenic (dominant)" "" "0000672407" "0" "30" "16" "2156220" "2156220" "subst" "0.000386023" "00006" "PKD1_000609" "g.2156220G>A" "" "{PKDdb:PKD1;7575C%3ET;625}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106219G>A" "" "likely benign" "" "0000672408" "0" "30" "16" "2156214" "2156214" "subst" "0" "00006" "PKD1_002002" "g.2156214G>A" "" "{PKDdb:PKD1;7581C%3ET;626}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106213G>A" "" "likely benign" "" "0000672409" "0" "90" "16" "2156211" "2156211" "subst" "0" "00006" "PKD1_002001" "g.2156211G>C" "" "{PKDdb:PKD1;Y2528X;2416}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106210G>C" "" "pathogenic (dominant)" "" "0000672410" "0" "70" "16" "2156206" "2156206" "subst" "0" "00006" "PKD1_002000" "g.2156206C>T" "" "{PKDdb:PKD1;G2530D;2248}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106205C>T" "" "likely pathogenic (dominant)" "" "0000672411" "0" "30" "16" "2156202" "2156202" "subst" "0" "00006" "PKD1_001999" "g.2156202G>A" "" "{PKDdb:PKD1;7593C%3ET;627}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106201G>A" "" "likely benign" "" "0000672412" "0" "90" "16" "2156098" "2156193" "del" "0" "00006" "PKD1_001990" "g.2156098_2156193del" "" "{PKDdb:PKD1;Y2535_L2566del32;2417}" "" "7603_7698del96" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106097_2106192del" "" "pathogenic (dominant)" "" "0000672413" "0" "30" "16" "2156190" "2156190" "subst" "9.96694E-5" "00006" "PKD1_001998" "g.2156190G>A" "" "{PKDdb:PKD1;7605C%3ET;629}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106189G>A" "" "likely benign" "" "0000672414" "0" "90" "16" "2156177" "2156177" "dup" "0" "00006" "PKD1_001997" "g.2156177dup" "" "{PKDdb:PKD1;7622_7623insC;630}" "" "7622_7623insC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106176dup" "" "pathogenic (dominant)" "" "0000672415" "0" "30" "16" "2156172" "2156172" "subst" "2.63036E-5" "00006" "PKD1_001996" "g.2156172C>T" "" "{PKDdb:PKD1;7623G%3EA;631}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106171C>T" "" "likely benign" "" "0000672416" "0" "30" "16" "2156159" "2156159" "subst" "0.00164739" "00006" "PKD1_000476" "g.2156159G>A" "" "{PKDdb:PKD1;H2546Y;1076}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106158G>A" "" "likely benign" "" "0000672417" "0" "30" "16" "2156158" "2156158" "subst" "1.38961E-5" "00006" "PKD1_001995" "g.2156158T>C" "" "{PKDdb:PKD1;H2546R;1075}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106157T>C" "" "likely benign" "" "0000672418" "0" "30" "16" "2156153" "2156153" "subst" "0.00666958" "00006" "PKD1_001051" "g.2156153C>G" "" "{PKDdb:PKD1;E2548Q;933}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106152C>G" "" "likely benign" "" "0000672419" "0" "90" "16" "2156140" "2156140" "del" "0" "00006" "PKD1_001994" "g.2156140del" "" "{PKDdb:PKD1;7656delC;2418}" "" "7656delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106139del" "" "pathogenic (dominant)" "" "0000672420" "0" "90" "16" "2156129" "2156129" "subst" "0" "00006" "PKD1_000291" "g.2156129G>A" "" "{PKDdb:PKD1;Q2556X;1679}" "" "" "definitely pathogenic in ADPKDdb; reported in 7 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106128G>A" "" "pathogenic (dominant)" "" "0000672421" "0" "90" "16" "2156116" "2156128" "del" "0" "00006" "PKD1_001991" "g.2156116_2156128del" "" "{PKDdb:PKD1;7669_7681del13;632}" "" "7669_7681delGACCAGCT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106115_2106127del" "" "pathogenic (dominant)" "" "0000672422" "0" "70" "16" "2156125" "2156125" "subst" "3.87241E-5" "00006" "PKD1_001993" "g.2156125T>C" "" "{PKDdb:PKD1;D2557G;889}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106124T>C" "" "likely pathogenic (dominant)" "" "0000672423" "0" "90" "16" "2156124" "2156124" "dup" "0" "00006" "PKD1_001992" "g.2156124dup" "" "{PKDdb:PKD1;7672_7673insC;2568}" "" "7672_7673insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106123dup" "" "pathogenic (dominant)" "" "0000672424" "0" "90" "16" "2156123" "2156123" "subst" "0" "00006" "PKD1_000094" "g.2156123G>A" "" "{PKDdb:PKD1;Q2558X;1680}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106122G>A" "" "pathogenic (dominant)" "" "0000672425" "0" "30" "16" "2156112" "2156112" "subst" "0.000474751" "00006" "PKD1_000830" "g.2156112G>A" "" "{PKDdb:PKD1;7683C%3ET;633}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106111G>A" "" "likely benign" "" "0000672426" "0" "90" "16" "2156063" "2156093" "del" "0" "00006" "PKD1_001984" "g.2156063_2156093del" "" "{PKDdb:PKD1;7702_IVS19~29del31;635}" "" "7702_7703+29delAGGTG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106062_2106092del" "" "pathogenic (dominant)" "" "0000672427" "0" "90" "16" "2156091" "2156091" "subst" "0" "00006" "PKD1_001988" "g.2156091C>T" "" "{PKDdb:PKD1;IVS19~1G%3EA;2419}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106090C>T" "" "pathogenic (dominant)" "" "0000672428" "0" "90" "16" "2156091" "2156091" "subst" "0" "00006" "PKD1_001989" "g.2156091C>A" "" "{PKDdb:PKD1;IVS19~1G%3ET;1180}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106090C>A" "" "pathogenic (dominant)" "" "0000672429" "0" "30" "16" "2156080" "2156080" "subst" "0.000113745" "00006" "PKD1_001987" "g.2156080G>A" "" "{PKDdb:PKD1;IVS19~12C%3ET;1179}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106079G>A" "" "likely benign" "" "0000672430" "0" "30" "16" "2156069" "2156069" "subst" "0.000419778" "00006" "PKD1_001986" "g.2156069C>T" "" "{PKDdb:PKD1;IVS19~23G%3EA;1181}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106068C>T" "" "likely benign" "" "0000672431" "0" "30" "16" "2156068" "2156068" "subst" "0.00295005" "00006" "PKD1_001985" "g.2156068G>T" "" "{PKDdb:PKD1;IVS19~24C%3EA;1182}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106067G>T" "" "likely benign" "" "0000672432" "0" "30" "16" "2156037" "2156037" "subst" "3.825E-5" "00006" "PKD1_001983" "g.2156037G>A" "" "{PKDdb:PKD1;IVS19-12C%3ET;1183}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106036G>A" "" "likely benign" "" "0000672433" "0" "90" "16" "2156026" "2156026" "del" "0" "00006" "PKD1_000351" "g.2156026del" "" "{PKDdb:PKD1;7704delG;636}" "" "7704delG" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106025del" "" "pathogenic (dominant)" "" "0000672434" "0" "70" "16" "2156023" "2156023" "subst" "4.2328E-6" "00006" "PKD1_000475" "g.2156023G>C" "" "{PKDdb:PKD1;S2569C;1940}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106022G>C" "" "likely pathogenic (dominant)" "" "0000672435" "0" "30" "16" "2156021" "2156021" "subst" "0.0914472" "00006" "PKD1_000724" "g.2156021A>G" "" "{PKDdb:PKD1;7708T%3EC;637}" "" "" "reported in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2106020A>G" "" "likely benign" "" "0000672436" "0" "30" "16" "2156017" "2156017" "subst" "4.23664E-6" "00006" "PKD1_001982" "g.2156017G>A" "" "{PKDdb:PKD1;A2571V;800}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2106016G>A" "" "likely benign" "" "0000672437" "0" "90" "16" "2155994" "2156001" "del" "0" "00006" "PKD1_001981" "g.2155994_2156001del" "" "{PKDdb:PKD1;7730_7737del8;2420}" "" "7730_7737delCCAACGGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105993_2106000del" "" "pathogenic (dominant)" "" "0000672438" "0" "70" "16" "2155993" "2155995" "del" "0" "00006" "PKD1_001980" "g.2155993_2155995del" "" "{PKDdb:PKD1;G2579del;1029}" "" "7734_7736delGGC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105992_2105994del" "" "likely pathogenic (dominant)" "" "0000672439" "0" "30" "16" "2155989" "2155989" "subst" "0.000601264" "00006" "PKD1_001979" "g.2155989G>A" "" "{PKDdb:PKD1;7740C%3ET;639}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105988G>A" "" "likely benign" "" "0000672440" "0" "30" "16" "2155984" "2155984" "subst" "0" "00006" "PKD1_001978" "g.2155984G>A" "" "{PKDdb:PKD1;T2582M;2013}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105983G>A" "" "likely benign" "" "0000672441" "0" "90" "16" "2155979" "2155979" "del" "0" "00006" "PKD1_001977" "g.2155979del" "" "{PKDdb:PKD1;7750delC;2421}" "" "7750delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105978del" "" "pathogenic (dominant)" "" "0000672442" "0" "90" "16" "2155949" "2155950" "ins" "0" "00006" "PKD1_001976" "g.2155949_2155950insG" "" "{PKDdb:PKD1;7779_7780insC;640}" "" "7779_7780insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105948_2105949insG" "" "pathogenic (dominant)" "" "0000672443" "0" "30" "16" "2155940" "2155940" "subst" "0.000134575" "00006" "PKD1_001975" "g.2155940G>C" "" "{PKDdb:PKD1;P2597A;1598}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105939G>C" "" "likely benign" "" "0000672444" "0" "30" "16" "2155938" "2155938" "subst" "6.94806E-5" "00006" "PKD1_001974" "g.2155938T>C" "" "{PKDdb:PKD1;7791A%3EG;641}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105937T>C" "" "likely benign" "" "0000672445" "0" "70" "16" "2155933" "2155933" "subst" "0" "00006" "PKD1_001973" "g.2155933A>C" "" "{PKDdb:PKD1;L2599R;1479}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105932A>C" "" "likely pathogenic (dominant)" "" "0000672446" "0" "90" "16" "2155925" "2155925" "subst" "0" "00006" "PKD1_001972" "g.2155925G>A" "" "{PKDdb:PKD1;Q2602X;2422}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105924G>A" "" "pathogenic (dominant)" "" "0000672447" "0" "50" "16" "2155919" "2155919" "subst" "0.00098727" "00006" "PKD1_001971" "g.2155919C>T" "" "{PKDdb:PKD1;D2604N;890}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105918C>T" "" "VUS" "" "0000672448" "0" "30" "16" "2155916" "2155916" "subst" "0" "00006" "PKD1_001970" "g.2155916G>A" "" "{PKDdb:PKD1;P2605S;1599}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105915G>A" "" "likely benign" "" "0000672449" "0" "90" "16" "2155913" "2155913" "subst" "0" "00006" "PKD1_001969" "g.2155913G>A" "" "{PKDdb:PKD1;Q2606X;1681}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105912G>A" "" "pathogenic (dominant)" "" "0000672450" "0" "90" "16" "2155906" "2155910" "del" "0" "00006" "PKD1_000075" "g.2155906_2155910del" "" "{PKDdb:PKD1;7819_7823del5;642}" "" "7819_7823delCACGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105905_2105909del" "" "pathogenic (dominant)" "" "0000672451" "0" "90" "16" "2155906" "2155910" "del" "0" "00006" "PKD1_000075" "g.2155906_2155910del" "" "{PKDdb:PKD1;7821_7825del5;2659}" "" "7821_7825delCGTCA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105905_2105909del" "" "pathogenic (dominant)" "" "0000672452" "0" "70" "16" "2155904" "2155906" "del" "0" "00006" "PKD1_001968" "g.2155904_2155906del" "" "{PKDdb:PKD1;I2609del;1097}" "" "7825_7827delATC" "likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105903_2105905del" "" "likely pathogenic (dominant)" "" "0000672453" "0" "90" "16" "2155896" "2155896" "subst" "4.37449E-6" "00006" "PKD1_001967" "g.2155896G>C" "" "{PKDdb:PKD1;Y2611X;2423}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105895G>C" "" "pathogenic (dominant)" "" "0000672454" "0" "50" "16" "2155894" "2155894" "subst" "7.87484E-5" "00006" "PKD1_001965" "g.2155894G>A" "" "{PKDdb:PKD1;S2612L;1941}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105893G>A" "" "VUS" "" "0000672455" "0" "70" "16" "2155894" "2155894" "subst" "0" "00006" "PKD1_001966" "g.2155894G>C" "" "{PKDdb:PKD1;S2612W;2250}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105893G>C" "" "likely pathogenic (dominant)" "" "0000672456" "0" "70" "16" "2155891" "2155893" "del" "0" "00006" "PKD1_000163" "g.2155891_2155893del" "" "{PKDdb:PKD1;L2613del;1480}" "" "7836_7838delGTT" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105890_2105892del" "" "likely pathogenic (dominant)" "" "0000672457" "0" "30" "16" "2155892" "2155892" "subst" "0" "00006" "PKD1_001964" "g.2155892A>G" "" "{PKDdb:PKD1;7837T%3EC;643}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105891A>G" "" "likely benign" "" "0000672458" "0" "30" "16" "2155875" "2155875" "subst" "0" "00006" "PKD1_001963" "g.2155875C>G" "" "{PKDdb:PKD1;7854G%3EC;644}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105874C>G" "" "likely benign" "" "0000672459" "0" "70" "16" "2155873" "2155873" "subst" "0" "00006" "PKD1_000289" "g.2155873A>G" "" "{PKDdb:PKD1;L2619P;1481}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105872A>G" "" "likely pathogenic (dominant)" "" "0000672460" "0" "90" "16" "2155865" "2155873" "del" "0" "00006" "PKD1_001962" "g.2155865_2155873del" "" "{PKDdb:PKD1;7859_IVS20~4del9;645}" "" "7859_7863+4delACGAGG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105864_2105872del" "" "pathogenic (dominant)" "" "0000672461" "0" "90" "16" "2155865" "2155865" "subst" "0" "00006" "PKD1_000601" "g.2155865C>A" "" "{PKDdb:PKD1;IVS20~1G%3ET;2424}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105864C>A" "" "pathogenic (dominant)" "" "0000672462" "0" "30" "16" "2155855" "2155855" "subst" "0.000521811" "00006" "PKD1_001961" "g.2155855G>A" "" "{PKDdb:PKD1;IVS20~11C%3ET;1187}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105854G>A" "" "likely benign" "" "0000672463" "0" "30" "16" "2155850" "2155850" "subst" "0" "00006" "PKD1_001960" "g.2155850C>G" "" "{PKDdb:PKD1;IVS20~16G%3EC;1189}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105849C>G" "" "likely benign" "" "0000672464" "0" "30" "16" "2155842" "2155842" "subst" "0.000228337" "00006" "PKD1_001959" "g.2155842C>G" "" "{PKDdb:PKD1;IVS20~24G%3EC;1190}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105841C>G" "" "likely benign" "" "0000672465" "0" "30" "16" "2155819" "2155819" "subst" "0.156324" "00006" "PKD1_001958" "g.2155819A>C" "" "{PKDdb:PKD1;IVS20~47T%3EG;1191}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105818A>C" "" "likely benign" "" "0000672466" "0" "30" "16" "2155724" "2155724" "subst" "0" "00006" "PKD1_001957" "g.2155724G>C" "" "{PKDdb:PKD1;IVS20~142C%3EG;1188}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105723G>C" "" "likely benign" "" "0000672467" "0" "30" "16" "2155491" "2155491" "subst" "0" "00006" "PKD1_001954" "g.2155491G>C" "" "{PKDdb:PKD1;IVS20-16C%3EG;1193}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105490G>C" "" "likely benign" "" "0000672468" "0" "30" "16" "2155491" "2155491" "subst" "7.47194E-5" "00006" "PKD1_001955" "g.2155491G>A" "" "{PKDdb:PKD1;IVS20-16C%3ET;1194}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105490G>A" "" "likely benign" "" "0000672469" "0" "30" "16" "2155490" "2155490" "subst" "0" "00006" "PKD1_001953" "g.2155490G>C" "" "{PKDdb:PKD1;IVS20-15C%3EG;1192}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105489G>C" "" "likely benign" "" "0000672470" "0" "90" "16" "2155477" "2155477" "subst" "0" "00006" "PKD1_001952" "g.2155477T>C" "" "{PKDdb:PKD1;IVS20-2A%3EG;2313}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105476T>C" "" "pathogenic (dominant)" "" "0000672471" "0" "90" "16" "2155476" "2155476" "subst" "0" "00006" "PKD1_001951" "g.2155476C>A" "" "{PKDdb:PKD1;IVS20-1G%3ET;2425}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105475C>A" "" "pathogenic (dominant)" "" "0000672472" "0" "30" "16" "2155473" "2155473" "subst" "0.000382166" "00006" "PKD1_001949" "g.2155473G>A" "" "{PKDdb:PKD1;7866C%3ET;646}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105472G>A" "" "likely benign" "" "0000672473" "0" "90" "16" "2155473" "2155473" "subst" "0" "00006" "PKD1_001950" "g.2155473G>T" "" "{PKDdb:PKD1;Y2622X;2426}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105472G>T" "" "pathogenic (dominant)" "" "0000672474" "0" "90" "16" "2155467" "2155470" "del" "0" "00006" "PKD1_001948" "g.2155467_2155470del" "" "{PKDdb:PKD1;7871_7874del4;647}" "" "7871_7874delGGGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105466_2105469del" "" "pathogenic (dominant)" "" "0000672475" "0" "30" "16" "2155457" "2155457" "subst" "2.63493E-5" "00006" "PKD1_001947" "g.2155457C>T" "" "{PKDdb:PKD1;V2628M;2060}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105456C>T" "" "likely benign" "" "0000672476" "0" "30" "16" "2155452" "2155452" "subst" "4.83062E-5" "00006" "PKD1_001946" "g.2155452C>T" "" "{PKDdb:PKD1;7887G%3EA;648}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105451C>T" "" "likely benign" "" "0000672477" "0" "30" "16" "2155451" "2155451" "subst" "1.31774E-5" "00006" "PKD1_001945" "g.2155451C>T" "" "{PKDdb:PKD1;A2630T;801}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105450C>T" "" "likely benign" "" "0000672478" "0" "90" "16" "2155430" "2155430" "subst" "0" "00006" "PKD1_001944" "g.2155430G>A" "" "{PKDdb:PKD1;Q2637X;1682}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105429G>A" "" "pathogenic (dominant)" "" "0000672479" "0" "30" "16" "2155426" "2155426" "subst" "0.0425094" "00006" "PKD1_000723" "g.2155426T>C" "" "{PKDdb:PKD1;H2638R;1077}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105425T>C" "" "likely benign" "" "0000672480" "0" "90" "16" "2155426" "2155445" "dup" "0" "00006" "PKD1_000443" "g.2155426_2155445dup" "" "{PKDdb:PKD1;7915_7916ins20;650}" "" "7915_7916insCAAGCACGAGCGGCAGCACC" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105425_2105444dup" "" "pathogenic (dominant)" "" "0000672481" "0" "90" "16" "2155424" "2155424" "subst" "0" "00006" "PKD1_000074" "g.2155424G>A" "" "{PKDdb:PKD1;R2639X;1807}" "" "" "definitely pathogenic in ADPKDdb; reported in 7 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105423G>A" "" "pathogenic (dominant)" "" "0000672482" "0" "30" "16" "2155421" "2155421" "subst" "0" "00006" "PKD1_001943" "g.2155421C>G" "" "{PKDdb:PKD1;A2640P;802}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105420C>G" "" "likely benign" "" "0000672483" "0" "90" "16" "2155418" "2155418" "subst" "0" "00006" "PKD1_001942" "g.2155418G>A" "" "{PKDdb:PKD1;Q2641X;1683}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105417G>A" "" "pathogenic (dominant)" "" "0000672484" "0" "90" "16" "2155412" "2155412" "del" "0" "00006" "PKD1_001941" "g.2155412del" "" "{PKDdb:PKD1;7927delC;2251}" "" "7927delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105411del" "" "pathogenic (dominant)" "" "0000672485" "0" "70" "16" "2155412" "2155412" "subst" "4.39213E-6" "00006" "PKD1_000288" "g.2155412G>A" "" "{PKDdb:PKD1;R2643C;1808}" "" "" "highly likely pathogenic in ADPKDdb; reported in 6 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105411G>A" "" "likely pathogenic (dominant)" "" "0000672486" "0" "50" "16" "2155402" "2155402" "subst" "0.000219645" "00006" "PKD1_000474" "g.2155402A>G" "" "{PKDdb:PKD1;I2646T;1098}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105401A>G" "" "VUS" "" "0000672487" "0" "50" "16" "2155393" "2155393" "subst" "8.79523E-6" "00006" "PKD1_000162" "g.2155393G>A" "" "{PKDdb:PKD1;T2649I;2014}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105392G>A" "" "VUS" "" "0000672488" "0" "90" "16" "2155392" "2155393" "del" "0" "00006" "PKD1_000093" "g.2155392_2155393del" "" "{PKDdb:PKD1;7948_7949delCT;651}" "" "7948_7949delCT" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105391_2105392del" "" "pathogenic (dominant)" "" "0000672489" "0" "30" "16" "2155379" "2155379" "subst" "0" "00006" "PKD1_001940" "g.2155379T>C" "" "{PKDdb:PKD1;R2654G;1809}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105378T>C" "" "likely benign" "" "0000672490" "0" "90" "16" "2155360" "2155367" "del" "0" "00006" "PKD1_001938" "g.2155360_2155367del" "" "{PKDdb:PKD1;7972_7979del8;652}" "" "7972_7979delGTGGATGA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105359_2105366del" "" "pathogenic (dominant)" "" "0000672491" "0" "90" "16" "2155363" "2155363" "dup" "0" "00006" "PKD1_001939" "g.2155363dup" "" "{PKDdb:PKD1;7976_7977insA;2569}" "" "7976_7977insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105362dup" "" "pathogenic (dominant)" "" "0000672492" "0" "30" "16" "2155359" "2155359" "subst" "8.88605E-6" "00006" "PKD1_001937" "g.2155359G>A" "" "{PKDdb:PKD1;7980C%3ET;653}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105358G>A" "" "likely benign" "" "0000672493" "0" "90" "16" "2155355" "2155355" "subst" "4.45732E-6" "00006" "PKD1_001936" "g.2155355G>A" "" "{PKDdb:PKD1;Q2662X;1684}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105354G>A" "" "pathogenic (dominant)" "" "0000672494" "0" "90" "16" "2155352" "2155352" "subst" "0" "00006" "PKD1_001935" "g.2155352G>A" "" "{PKDdb:PKD1;Q2663X;2427}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105351G>A" "" "pathogenic (dominant)" "" "0000672495" "0" "30" "16" "2155346" "2155346" "subst" "0.000166797" "00006" "PKD1_001934" "g.2155346C>T" "" "{PKDdb:PKD1;A2665T;803}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105345C>T" "" "likely benign" "" "0000672496" "0" "90" "16" "2155331" "2155331" "subst" "0" "00006" "PKD1_001933" "g.2155331G>A" "" "{PKDdb:PKD1;Q2670X;2428}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105330G>A" "" "pathogenic (dominant)" "" "0000672497" "0" "30" "16" "2155313" "2155313" "del" "0" "00006" "PKD1_000599" "g.2155313del" "" "{PKDdb:PKD1;IVS21~13delC;1195}" "" "8016+13delC" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105312del" "" "likely benign" "" "0000672498" "0" "30" "16" "2155307" "2155307" "subst" "8.93168E-6" "00006" "PKD1_001932" "g.2155307G>T" "" "{PKDdb:PKD1;IVS21~16C%3EA;1196}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105306G>T" "" "likely benign" "" "0000672499" "0" "30" "16" "2155297" "2155297" "subst" "0.103977" "00006" "PKD1_001931" "g.2155297A>G" "" "{PKDdb:PKD1;IVS21~26T%3EC;1197}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2105296A>G" "" "likely benign" "" "0000672500" "0" "30" "16" "2155252" "2155252" "subst" "0" "00006" "PKD1_001930" "g.2155252C>T" "" "{PKDdb:PKD1;IVS21~71G%3EA;1198}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105251C>T" "" "likely benign" "" "0000672501" "0" "30" "16" "2155246" "2155246" "subst" "0" "00006" "PKD1_001929" "g.2155246G>A" "" "{PKDdb:PKD1;IVS21~77C%3ET;1199}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2105245G>A" "" "likely benign" "" "0000672502" "0" "30" "16" "2154687" "2154687" "subst" "0.00121874" "00006" "PKD1_001926" "g.2154687C>G" "" "{PKDdb:PKD1;IVS21-44G%3EC;1204}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "g.2104686C>G" "" "likely benign" "" "0000672503" "0" "30" "16" "2154672" "2154672" "subst" "0.00183801" "00006" "PKD1_001925" "g.2154672G>A" "" "{PKDdb:PKD1;IVS21-29C%3ET;1202}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104671G>A" "" "likely benign" "" "0000672504" "0" "90" "16" "2154645" "2154645" "subst" "0" "00006" "PKD1_001924" "g.2154645T>C" "" "{PKDdb:PKD1;IVS21-2A%3EG;1203}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104644T>C" "" "pathogenic (dominant)" "" "0000672505" "0" "90" "16" "2154644" "2154645" "del" "0" "00006" "PKD1_000120" "g.2154644_2154645del" "" "{PKDdb:PKD1;IVS21-2_-1delAG;1201}" "" "8017-2_-1delAG" "definitely pathogenic in ADPKDdb; reported in 9 families in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104643_2104644del" "" "pathogenic (dominant)" "" "0000672506" "0" "90" "16" "2154644" "2154644" "subst" "0" "00006" "PKD1_001923" "g.2154644C>G" "" "{PKDdb:PKD1;IVS21-1G%3EC;2429}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104643C>G" "" "pathogenic (dominant)" "" "0000672507" "0" "30" "16" "2154640" "2154640" "subst" "0.00921845" "00006" "PKD1_000721" "g.2154640G>A" "" "{PKDdb:PKD1;P2674S;1600}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104639G>A" "" "likely benign" "" "0000672508" "0" "30" "16" "2154623" "2154623" "subst" "0.00212447" "00006" "PKD1_001922" "g.2154623T>C" "" "{PKDdb:PKD1;8037A%3EG;654}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104622T>C" "" "likely benign" "" "0000672509" "0" "50" "16" "2154615" "2154615" "subst" "7.00997E-5" "00006" "PKD1_001920" "g.2154615G>A" "" "{PKDdb:PKD1;S2682L;1942}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104614G>A" "" "VUS" "" "0000672510" "0" "90" "16" "2154615" "2154615" "subst" "0" "00006" "PKD1_001921" "g.2154615G>T" "" "{PKDdb:PKD1;S2682X;1943}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104614G>T" "" "pathogenic (dominant)" "" "0000672511" "0" "30" "16" "2154614" "2154614" "subst" "8.36832E-5" "00006" "PKD1_001919" "g.2154614C>T" "" "{PKDdb:PKD1;8046G%3EA;655}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104613C>T" "" "likely benign" "" "0000672512" "0" "90" "16" "2154611" "2154621" "dup" "0" "00006" "PKD1_001918" "g.2154611_2154621dup" "" "{PKDdb:PKD1;8049_8050ins11;2252}" "" "8049_8050insGCCGCTCGTGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104610_2104620dup" "" "pathogenic (dominant)" "" "0000672513" "0" "90" "16" "2154608" "2154609" "ins" "0" "00006" "PKD1_001917" "g.2154608_2154609insN[49]" "" "{PKDdb:PKD1;8051_8052ins49;656}" "" "8051_8052ins49" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104607_2104608insN[49]" "" "pathogenic (dominant)" "" "0000672514" "0" "90" "16" "2154604" "2154604" "subst" "0" "00006" "PKD1_000287" "g.2154604G>A" "" "{PKDdb:PKD1;Q2686X;1686}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104603G>A" "" "pathogenic (dominant)" "" "0000672515" "0" "90" "16" "2154590" "2154590" "del" "0" "00006" "PKD1_001916" "g.2154590del" "" "{PKDdb:PKD1;8070delG;2430}" "" "8070delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104589del" "" "pathogenic (dominant)" "" "0000672516" "0" "30" "16" "2154573" "2154573" "subst" "0.000152359" "00006" "PKD1_001915" "g.2154573A>G" "" "{PKDdb:PKD1;L2696P;1482}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104572A>G" "" "likely benign" "" "0000672517" "0" "30" "16" "2154573" "2154573" "subst" "0.0010848" "00006" "PKD1_000157" "g.2154573A>C" "" "{PKDdb:PKD1;L2696R;1483}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104572A>C" "" "likely benign" "" "0000672518" "0" "70" "16" "2154568" "2154576" "dup" "0" "00006" "PKD1_000473" "g.2154568_2154576dup" "" "{PKDdb:PKD1;L2698_Q2699insLIL;1484}" "" "8094_8095insCTCATCCTG" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104567_2104575dup" "" "likely pathogenic (dominant)" "" "0000672519" "0" "90" "16" "2154565" "2154565" "subst" "0" "00006" "PKD1_000433" "g.2154565G>A" "" "{PKDdb:PKD1;Q2699X;1687}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104564G>A" "" "pathogenic (dominant)" "" "0000672520" "0" "30" "16" "2154551" "2154551" "subst" "0.0013471" "00006" "PKD1_001914" "g.2154551G>A" "" "{PKDdb:PKD1;8109C%3ET;657}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104550G>A" "" "likely benign" "" "0000672521" "0" "30" "16" "2154549" "2154549" "subst" "0.00142352" "00006" "PKD1_000588" "g.2154549G>A" "" "{PKDdb:PKD1;A2704V;804}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104548G>A" "" "likely benign" "" "0000672522" "0" "90" "16" "2154534" "2154543" "del" "0" "00006" "PKD1_000231" "g.2154534_2154543del" "" "{PKDdb:PKD1;8118_8127del10;658}" "" "8118_8127delCGTGACGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104533_2104542del" "" "pathogenic (dominant)" "" "0000672523" "0" "30" "16" "2154537" "2154537" "subst" "0.00960525" "00006" "PKD1_000720" "g.2154537G>A" "" "{PKDdb:PKD1;T2708M;2015}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104536G>A" "" "likely benign" "" "0000672524" "0" "90" "16" "2154534" "2154537" "del" "0" "00006" "PKD1_000507" "g.2154534_2154537del" "" "{PKDdb:PKD1;8124_8127del4;659}" "" "8124_8127delGCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104533_2104536del" "" "pathogenic (dominant)" "" "0000672525" "0" "70" "16" "2154531" "2154531" "subst" "0.000314956" "00006" "PKD1_001913" "g.2154531G>T" "" "{PKDdb:PKD1;T2710N;2016}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104530G>T" "" "likely pathogenic (dominant)" "" "0000672526" "0" "30" "16" "2154524" "2154524" "subst" "0.000226037" "00006" "PKD1_001912" "g.2154524G>A" "" "{PKDdb:PKD1;8136C%3ET;660}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104523G>A" "" "likely benign" "" "0000672527" "0" "90" "16" "2154523" "2154523" "subst" "0" "00006" "PKD1_001911" "g.2154523C>A" "" "{PKDdb:PKD1;G2713X;1032}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104522C>A" "" "pathogenic (dominant)" "" "0000672528" "0" "50" "16" "2154522" "2154522" "subst" "0" "00006" "PKD1_001910" "g.2154522C>T" "" "{PKDdb:PKD1;G2713E;1031}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104521C>T" "" "VUS" "" "0000672529" "0" "50" "16" "2154500" "2154500" "subst" "0" "00006" "PKD1_001909" "g.2154500T>C" "" "{PKDdb:PKD1;8160A%3EG;661}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104499T>C" "" "VUS" "" "0000672530" "0" "30" "16" "2154491" "2154491" "subst" "0.00543568" "00006" "PKD1_000719" "g.2154491C>T" "" "{PKDdb:PKD1;IVS22~8G%3EA;1219}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104490C>T" "" "likely benign" "" "0000672531" "0" "30" "16" "2154487" "2154487" "subst" "0.000457788" "00006" "PKD1_001908" "g.2154487G>A" "" "{PKDdb:PKD1;IVS22~12C%3ET;1205}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104486G>A" "" "likely benign" "" "0000672532" "0" "30" "16" "2154478" "2154478" "subst" "0.628102" "00006" "PKD1_001049" "g.2154478A>G" "" "{PKDdb:PKD1;IVS22~21T%3EC;1206}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104477A>G" "" "likely benign" "" "0000672533" "0" "30" "16" "2154476" "2154476" "subst" "6.82799E-6" "00006" "PKD1_001907" "g.2154476G>A" "" "{PKDdb:PKD1;IVS22~23C%3ET;1207}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104475G>A" "" "likely benign" "" "0000672534" "0" "30" "16" "2154475" "2154475" "subst" "0" "00006" "PKD1_001906" "g.2154475G>C" "" "{PKDdb:PKD1;IVS22~24C%3EG;1208}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104474G>C" "" "likely benign" "" "0000672535" "0" "30" "16" "2154474" "2154474" "subst" "0" "00006" "PKD1_001905" "g.2154474T>C" "" "{PKDdb:PKD1;IVS22~25A%3EG;1209}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104473T>C" "" "likely benign" "" "0000672536" "0" "30" "16" "2154470" "2154470" "subst" "0.0128048" "00006" "PKD1_000583" "g.2154470C>T" "" "{PKDdb:PKD1;IVS22~29G%3EA;1211}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104469C>T" "" "likely benign" "" "0000672537" "0" "30" "16" "2154456" "2154473" "del" "0" "00006" "PKD1_001899" "g.2154456_2154473del" "" "{PKDdb:PKD1;IVS22~29_~46del18;1210}" "" "8161+29_+46del18" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104455_2104472del" "" "likely benign" "" "0000672538" "0" "30" "16" "2154469" "2154469" "subst" "0" "00006" "PKD1_001904" "g.2154469G>C" "" "{PKDdb:PKD1;IVS22~30C%3EG;1212}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104468G>C" "" "likely benign" "" "0000672539" "0" "30" "16" "2154468" "2154468" "subst" "0" "00006" "PKD1_001903" "g.2154468G>A" "" "{PKDdb:PKD1;IVS22~31C%3ET;1213}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104467G>A" "" "likely benign" "" "0000672540" "0" "30" "16" "2154461" "2154461" "subst" "0.177669" "00006" "PKD1_001048" "g.2154461C>T" "" "{PKDdb:PKD1;IVS22~38G%3EA;1214}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104460C>T" "" "likely benign" "" "0000672541" "0" "30" "16" "2154460" "2154460" "subst" "0" "00006" "PKD1_001902" "g.2154460A>G" "" "{PKDdb:PKD1;IVS22~39T%3EC;1215}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2104459A>G" "" "likely benign" "" "0000672542" "0" "30" "16" "2154458" "2154458" "subst" "0.000376121" "00006" "PKD1_001901" "g.2154458G>A" "" "{PKDdb:PKD1;IVS22~41C%3ET;1216}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104457G>A" "" "likely benign" "" "0000672543" "0" "30" "16" "2154457" "2154457" "subst" "0.000985427" "00006" "PKD1_001900" "g.2154457C>G" "" "{PKDdb:PKD1;IVS22~42C%3EG;1217}" "" "8161+42C>G" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104456C>G" "" "likely benign" "" "0000672544" "0" "30" "16" "2154452" "2154453" "ins" "0" "00006" "PKD1_001898" "g.2154452_2154453insN[18]" "" "{PKDdb:PKD1;IVS22~46_~47ins18;1218}" "" "8161+46_+47ins18" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2104451_2104452insN[18]" "" "likely benign" "" "0000672545" "0" "30" "16" "2153882" "2153882" "subst" "0.000130537" "00006" "PKD1_001897" "g.2153882G>A" "" "{PKDdb:PKD1;8176C%3ET;663}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103881G>A" "" "likely benign" "" "0000672546" "0" "30" "16" "2153871" "2153871" "subst" "0.00175651" "00006" "PKD1_001896" "g.2153871C>T" "" "{PKDdb:PKD1;8187G%3EA;664}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103870C>T" "" "likely benign" "" "0000672547" "0" "90" "16" "2153861" "2153897" "dup" "0" "00006" "PKD1_001895" "g.2153861_2153897dup" "" "{PKDdb:PKD1;8197_8198ins37;2431}" "" "8197_8198insGGAGACCTCATCCACCTGGCCAGCTCGGACGTGCGGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103860_2103896dup" "" "pathogenic (dominant)" "" "0000672548" "0" "30" "16" "2153858" "2153858" "subst" "0.000683219" "00006" "PKD1_000826" "g.2153858G>T" "" "{PKDdb:PKD1;P2734T;1601}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103857G>T" "" "likely benign" "" "0000672549" "0" "90" "16" "2153855" "2153855" "subst" "0" "00006" "PKD1_001894" "g.2153855G>A" "" "{PKDdb:PKD1;Q2735X;2432}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103854G>A" "" "pathogenic (dominant)" "" "0000672550" "0" "30" "16" "2153854" "2153854" "subst" "0.000679855" "00006" "PKD1_000825" "g.2153854T>A" "" "{PKDdb:PKD1;Q2735L;1688}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103853T>A" "" "likely benign" "" "0000672551" "0" "90" "16" "2153846" "2153847" "del" "0" "00006" "PKD1_001893" "g.2153846_2153847del" "" "{PKDdb:PKD1;8213_8214delAG;665}" "" "8213_8214delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103845_2103846del" "" "pathogenic (dominant)" "" "0000672552" "0" "30" "16" "2153841" "2153841" "subst" "4.12916E-6" "00006" "PKD1_001892" "g.2153841C>G" "" "{PKDdb:PKD1;8217G%3EC;666}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103840C>G" "" "likely benign" "" "0000672553" "0" "30" "16" "2153835" "2153835" "subst" "2.06187E-5" "00006" "PKD1_001891" "g.2153835G>A" "" "{PKDdb:PKD1;8223C%3ET;667}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103834G>A" "" "likely benign" "" "0000672554" "0" "30" "16" "2153834" "2153834" "subst" "0.000169082" "00006" "PKD1_001890" "g.2153834C>T" "" "{PKDdb:PKD1;E2742K;935}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103833C>T" "" "likely benign" "" "0000672555" "0" "30" "16" "2153823" "2153823" "subst" "0" "00006" "PKD1_001191" "g.[2153823A>C;2153779A>G;2153776C>G;2153767A>G;2153581A>G]" "" "{PKDdb:PKD1;EX23%20Gene%20Conversion;974}" "" "[8235T>G;8279T>C;8282G>C;8291T>C;8477T>C]" "gene conversion ex23; highly likely pathogenic allele in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.[2103822A>C;2103778A>G;2103775C>G;2103766A>G;2103580A>G]" "" "likely benign" "" "0000672556" "0" "70" "16" "2153823" "2153823" "subst" "0" "00006" "PKD1_001192" "g.[2153823A>C;2153779A>G;2153776C>G;2153771G>C;2153767A>G]" "" "{PKDdb:PKD1;EX23%20Gene%20Conversion%20(2);975}" "" "[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C]" "gene conversion ex23; highly likely pathogenic allele in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.[2103822A>C;2103778A>G;2103775C>G;2103770G>C;2103766A>G]" "" "likely pathogenic (dominant)" "" "0000672557" "0" "50" "16" "2153821" "2153821" "subst" "0.000316448" "00006" "PKD1_000549" "g.2153821C>T" "" "{PKDdb:PKD1;R2746Q;1810}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103820C>T" "" "VUS" "" "0000672558" "0" "30" "16" "2153811" "2153811" "subst" "0.000777119" "00006" "PKD1_001889" "g.2153811C>T" "" "{PKDdb:PKD1;8247G%3EA;668}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103810C>T" "" "likely benign" "" "0000672559" "0" "70" "16" "2153803" "2153803" "subst" "0" "00006" "PKD1_000119" "g.2153803G>T" "" "{PKDdb:PKD1;A2752D;806}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103802G>T" "" "likely pathogenic (dominant)" "" "0000672560" "0" "90" "16" "2153798" "2153801" "del" "0" "00006" "PKD1_001888" "g.2153798_2153801del" "" "{PKDdb:PKD1;8257_8260del4;2433}" "" "8257_8260delTACA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103797_2103800del" "" "pathogenic (dominant)" "" "0000672561" "0" "90" "16" "2153799" "2153799" "subst" "0" "00006" "PKD1_000940" "g.2153799G>C" "" "{PKDdb:PKD1;Y2753X;2171}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103798G>C" "" "pathogenic (dominant)" "" "0000672562" "0" "30" "16" "2153796" "2153796" "subst" "1.63894E-5" "00006" "PKD1_001887" "g.2153796G>T" "" "{PKDdb:PKD1;N2754K;1568}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103795G>T" "" "likely benign" "" "0000672563" "0" "30" "16" "2153776" "2153776" "subst" "9.83155E-5" "00006" "PKD1_001886" "g.2153776C>T" "" "{PKDdb:PKD1;R2761H;1811}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103775C>T" "" "likely benign" "" "0000672564" "0" "90" "16" "2153773" "2153784" "del" "0" "00006" "PKD1_001884" "g.2153773_2153784del" "" "{PKDdb:PKD1;I2762_R2765del4;1099}" "" "8284_8295delATCCTCAT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103772_2103783del" "" "pathogenic (dominant)" "" "0000672565" "0" "70" "16" "2153771" "2153773" "del" "0" "00006" "PKD1_001885" "g.2153771_2153773del" "" "{PKDdb:PKD1;L2763del;1485}" "" "8287_8289delCTC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103770_2103772del" "" "likely pathogenic (dominant)" "" "0000672566" "0" "50" "16" "2153765" "2153765" "subst" "0.00456926" "00006" "PKD1_000442" "g.2153765G>A" "" "{PKDdb:PKD1;R2765C;1813}" "" "" "likely hypomorphic in ADPKDdb; reported in 14 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103764G>A" "" "VUS (!)" "" "0000672567" "0" "90" "16" "2153773" "2153784" "dup" "0" "00006" "PKD1_000118" "g.2153773_2153784dup" "" "{PKDdb:PKD1;R2765_S2766insILMR;1812}" "" "8295_8296insATCCTCATGCGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103772_2103783dup" "" "pathogenic (dominant)" "" "0000672568" "0" "30" "16" "2153760" "2153760" "subst" "0.000200838" "00006" "PKD1_001882" "g.2153760G>C" "" "{PKDdb:PKD1;8298C%3EG;671}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103759G>C" "" "likely benign" "" "0000672569" "0" "30" "16" "2153760" "2153760" "subst" "0.000979597" "00006" "PKD1_001883" "g.2153760G>A" "" "{PKDdb:PKD1;8298C%3ET;672}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103759G>A" "" "likely benign" "" "0000672570" "0" "70" "16" "2153759" "2153759" "subst" "0" "00006" "PKD1_000286" "g.2153759G>A" "" "{PKDdb:PKD1;R2767C;1814}" "" "" "highly likely pathogenic in ADPKDdb; reported in 6 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103758G>A" "" "likely pathogenic (dominant)" "" "0000672571" "0" "50" "16" "2153758" "2153758" "subst" "4.10155E-6" "00006" "PKD1_001880" "g.2153758C>T" "" "{PKDdb:PKD1;R2767H;1815}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103757C>T" "" "VUS" "" "0000672572" "0" "70" "16" "2153758" "2153758" "subst" "0" "00006" "PKD1_001881" "g.2153758C>G" "" "{PKDdb:PKD1;R2767P;1816}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103757C>G" "" "likely pathogenic (dominant)" "" "0000672573" "0" "50" "16" "2153756" "2153756" "subst" "8.20553E-6" "00006" "PKD1_000117" "g.2153756C>T" "" "{PKDdb:PKD1;V2768M;2062}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103755C>T" "" "VUS" "" "0000672574" "0" "50" "16" "2153753" "2153753" "subst" "0.000447374" "00006" "PKD1_001879" "g.2153753G>A" "" "{PKDdb:PKD1;L2769F;1486}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103752G>A" "" "VUS" "" "0000672575" "0" "90" "16" "2153747" "2153750" "delins" "0" "00006" "PKD1_001877" "g.2153747_2153750delinsAACGAG" "" "{PKDdb:PKD1;8308_8311del4ins6;2434}" "" "8308_8311delAACGinsCTCGTT" "definitely pathogenic in ADPKDdb; reported in 5 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103746_2103749delinsAACGAG" "" "pathogenic (dominant)" "" "0000672576" "0" "70" "16" "2153749" "2153749" "subst" "0" "00006" "PKD1_001878" "g.2153749T>A" "" "{PKDdb:PKD1;N2770I;2516}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103748T>A" "" "likely pathogenic (dominant)" "" "0000672577" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PKDdb:PKD1;E2771K;936}" "" "" "highly likely pathogenic in ADPKDdb; reported in 29 families in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000672578" "0" "90" "16" "2153741" "2153741" "del" "0" "00006" "PKD1_000192" "g.2153741del" "" "{PKDdb:PKD1;8320delC;673}" "" "8320delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103740del" "" "pathogenic (dominant)" "" "0000672579" "0" "90" "16" "2153737" "2153738" "del" "0" "00006" "PKD1_001876" "g.2153737_2153738del" "" "{PKDdb:PKD1;8320_8321delCT;2435}" "" "8320_8321delCT" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103736_2103737del" "" "pathogenic (dominant)" "" "0000672580" "0" "70" "16" "2153737" "2153737" "subst" "0" "00006" "PKD1_001875" "g.2153737A>G" "" "{PKDdb:PKD1;L2774P;2517}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103736A>G" "" "likely pathogenic (dominant)" "" "0000672581" "0" "30" "16" "2153727" "2153727" "subst" "0.000193624" "00006" "PKD1_001874" "g.2153727C>T" "" "{PKDdb:PKD1;8331G%3EA;674}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103726C>T" "" "likely benign" "" "0000672582" "0" "90" "16" "2153727" "2153730" "del" "0" "00006" "PKD1_001872" "g.2153727_2153730del" "" "{PKDdb:PKD1;8332_8335del4;675}" "" "8332_8335delGGCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103726_2103729del" "" "pathogenic (dominant)" "" "0000672583" "0" "30" "16" "2153724" "2153724" "subst" "0.000982253" "00006" "PKD1_001873" "g.2153724G>A" "" "{PKDdb:PKD1;8334C%3ET;676}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103723G>A" "" "likely benign" "" "0000672584" "0" "30" "16" "2153723" "2153723" "subst" "0.000730487" "00006" "PKD1_001871" "g.2153723C>T" "" "{PKDdb:PKD1;E2779K;937}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103722C>T" "" "likely benign" "" "0000672585" "0" "30" "16" "2153714" "2153714" "subst" "0.000558008" "00006" "PKD1_001046" "g.2153714C>T" "" "{PKDdb:PKD1;V2782M;2063}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103713C>T" "" "likely benign" "" "0000672586" "0" "90" "16" "2153708" "2153708" "subst" "0" "00006" "PKD1_001870" "g.2153708G>A" "" "{PKDdb:PKD1;Q2784X;2436}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103707G>A" "" "pathogenic (dominant)" "" "0000672587" "0" "70" "16" "2153704" "2153704" "subst" "0" "00006" "PKD1_000174" "g.2153704C>T" "" "{PKDdb:PKD1;G2785D;1033}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103703C>T" "" "likely pathogenic (dominant)" "" "0000672588" "0" "50" "16" "2153698" "2153698" "subst" "0.000111999" "00006" "PKD1_001869" "g.2153698C>T" "" "{PKDdb:PKD1;R2787H;1817}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103697C>T" "" "VUS" "" "0000672589" "0" "50" "16" "2153695" "2153695" "subst" "1.24534E-5" "00006" "PKD1_001867" "g.2153695G>A" "" "{PKDdb:PKD1;S2788L;1944}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103694G>A" "" "VUS" "" "0000672590" "0" "70" "16" "2153695" "2153695" "subst" "0" "00006" "PKD1_001868" "g.2153695G>C" "" "{PKDdb:PKD1;S2788W;1945}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103694G>C" "" "likely pathogenic (dominant)" "" "0000672591" "0" "30" "16" "2153694" "2153694" "subst" "0.00105915" "00006" "PKD1_000570" "g.2153694C>T" "" "{PKDdb:PKD1;8364G%3EA;677}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103693C>T" "" "likely benign" "" "0000672592" "0" "30" "16" "2153691" "2153691" "subst" "0.0001204" "00006" "PKD1_001866" "g.2153691G>A" "" "{PKDdb:PKD1;8367C%3ET;678}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103690G>A" "" "likely benign" "" "0000672593" "0" "30" "16" "2153687" "2153687" "subst" "3.32809E-5" "00006" "PKD1_001865" "g.2153687G>A" "" "{PKDdb:PKD1;R2791W;1819}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103686G>A" "" "likely benign" "" "0000672594" "0" "30" "16" "2153686" "2153686" "subst" "0.000128868" "00006" "PKD1_000028" "g.2153686C>T" "" "{PKDdb:PKD1;R2791Q;1818}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103685C>T" "" "likely benign" "" "0000672595" "0" "90" "16" "2153670" "2153670" "subst" "0" "00006" "PKD1_001864" "g.2153670A>T" "" "{PKDdb:PKD1;Y2796X;2172}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103669A>T" "" "pathogenic (dominant)" "" "0000672596" "0" "50" "16" "2153666" "2153666" "subst" "0" "00006" "PKD1_001863" "g.2153666C>A" "" "{PKDdb:PKD1;G2798C;1034}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103665C>A" "" "VUS" "" "0000672597" "0" "70" "16" "2153654" "2153654" "subst" "0" "00006" "PKD1_001862" "g.2153654G>A" "" "{PKDdb:PKD1;P2802L;1602}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103653G>A" "" "likely pathogenic (dominant)" "" "0000672598" "0" "70" "16" "2153632" "2153632" "subst" "0" "00006" "PKD1_000349" "g.2153632G>A" "" "{PKDdb:PKD1;P2809L;1603}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103631G>A" "" "likely pathogenic (dominant)" "" "0000672599" "0" "90" "16" "2153630" "2153630" "subst" "0" "00006" "PKD1_000285" "g.2153630C>A" "" "{PKDdb:PKD1;E2810X;938}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103629C>A" "" "pathogenic (dominant)" "" "0000672600" "0" "30" "16" "2153619" "2153619" "subst" "0.0047702" "00006" "PKD1_001119" "g.2153619G>A" "" "{PKDdb:PKD1;8439C%3ET;681}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103618G>A" "" "likely benign" "" "0000672601" "0" "30" "16" "2153618" "2153618" "subst" "0.00621509" "00006" "PKD1_000718" "g.2153618C>T" "" "{PKDdb:PKD1;G2814R;1035}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103617C>T" "" "likely benign" "" "0000672602" "0" "30" "16" "2153614" "2153614" "subst" "0.000465915" "00006" "PKD1_001861" "g.2153614G>A" "" "{PKDdb:PKD1;A2815V;807}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103613G>A" "" "likely benign" "" "0000672603" "0" "90" "16" "2153614" "2153614" "del" "0" "00006" "PKD1_000021" "g.2153614del" "" "{PKDdb:PKD1;8446delC;683}" "" "8446delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103613del" "" "pathogenic (dominant)" "" "0000672604" "0" "70" "16" "2153611" "2153611" "subst" "0" "00006" "PKD1_000115" "g.2153611A>G" "" "{PKDdb:PKD1;L2816P;1487}" "" "" "highly likely pathogenic in ADPKDdb; reported in 6 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103610A>G" "" "likely pathogenic (dominant)" "" "0000672605" "0" "70" "16" "2153611" "2153611" "subst" "0" "00006" "PKD1_001860" "g.2153611A>T" "" "{PKDdb:PKD1;L2816Q;2253}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103610A>T" "" "likely pathogenic (dominant)" "" "0000672606" "0" "30" "16" "2153607" "2153607" "subst" "0" "00006" "PKD1_001859" "g.2153607G>A" "" "{PKDdb:PKD1;8451C%3ET;684}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103606G>A" "" "likely benign" "" "0000672607" "0" "50" "16" "2153594" "2153594" "subst" "0.000671702" "00006" "PKD1_001858" "g.2153594C>T" "" "{PKDdb:PKD1;V2822M;2064}" "" "" "indeterminate in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103593C>T" "" "VUS" "" "0000672608" "0" "30" "16" "2153585" "2153585" "subst" "7.38165E-5" "00006" "PKD1_001857" "g.2153585G>A" "" "{PKDdb:PKD1;L2825F;1488}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103584G>A" "" "likely benign" "" "0000672609" "0" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PKDdb:PKD1;L2825_I2826insA;2518}" "" "8475_8476insGCT" "likely pathogenic in ADPKDdb; reported in 6 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000672610" "0" "70" "16" "2153561" "2153561" "subst" "0" "00006" "PKD1_001855" "g.2153561G>A" "" "{PKDdb:PKD1;P2833S;1605}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103560G>A" "" "likely pathogenic (dominant)" "" "0000672611" "0" "70" "16" "2153560" "2153560" "subst" "0" "00006" "PKD1_001854" "g.2153560G>C" "" "{PKDdb:PKD1;P2833R;1604}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103559G>C" "" "likely pathogenic (dominant)" "" "0000672612" "0" "30" "16" "2153559" "2153559" "subst" "1.23834E-5" "00006" "PKD1_001853" "g.2153559G>A" "" "{PKDdb:PKD1;8499C%3ET;685}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103558G>A" "" "likely benign" "" "0000672613" "0" "90" "16" "2153558" "2153558" "del" "0" "00006" "PKD1_000284" "g.2153558del" "" "{PKDdb:PKD1;8502delT;686}" "" "8502delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103557del" "" "pathogenic (dominant)" "" "0000672614" "0" "30" "16" "2153529" "2153529" "subst" "2.08974E-5" "00006" "PKD1_001852" "g.2153529G>A" "" "{PKDdb:PKD1;8529C%3ET;687}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103528G>A" "" "likely benign" "" "0000672615" "0" "30" "16" "2153523" "2153523" "subst" "0" "00006" "PKD1_001851" "g.2153523G>C" "" "{PKDdb:PKD1;8535C%3EG;2292}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103522G>C" "" "likely benign" "" "0000672616" "0" "70" "16" "2153521" "2153521" "subst" "0" "00006" "PKD1_001850" "g.2153521G>A" "" "{PKDdb:PKD1;T2846I;2615}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103520G>A" "" "likely pathogenic (dominant)" "" "0000672617" "0" "50" "16" "2153513" "2153513" "subst" "0" "00006" "PKD1_001849" "g.2153513C>G" "" "{PKDdb:PKD1;A2849P;808}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103512C>G" "" "VUS" "" "0000672618" "0" "30" "16" "2153508" "2153508" "subst" "0.000338318" "00006" "PKD1_001848" "g.2153508C>T" "" "{PKDdb:PKD1;8550G%3EA;688}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103507C>T" "" "likely benign" "" "0000672619" "0" "70" "16" "2153496" "2153501" "del" "0" "00006" "PKD1_001845" "g.2153496_2153501del" "" "{PKDdb:PKD1;F2853_Q2854del2;2519}" "" "8557_8562delTTCCAG" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103495_2103500del" "" "likely pathogenic (dominant)" "" "0000672620" "0" "70" "16" "2153500" "2153500" "subst" "0" "00006" "PKD1_000283" "g.2153500A>G" "" "{PKDdb:PKD1;F2853S;984}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103499A>G" "" "likely pathogenic (dominant)" "" "0000672621" "0" "30" "16" "2153499" "2153499" "subst" "0" "00006" "PKD1_001847" "g.2153499G>A" "" "{PKDdb:PKD1;8559C%3ET;689}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103498G>A" "" "likely benign" "" "0000672622" "0" "90" "16" "2153498" "2153498" "subst" "0" "00006" "PKD1_001846" "g.2153498G>A" "" "{PKDdb:PKD1;Q2854X;2437}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103497G>A" "" "pathogenic (dominant)" "" "0000672623" "0" "70" "16" "2153486" "2153486" "subst" "5.5654E-5" "00006" "PKD1_000114" "g.2153486C>T" "" "{PKDdb:PKD1;G2858S;1036}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103485C>T" "" "likely pathogenic (dominant)" "" "0000672624" "0" "90" "16" "2153474" "2153475" "dup" "0" "00006" "PKD1_001844" "g.2153474_2153475dup" "" "{PKDdb:PKD1;8586_8587insCC;691}" "" "8586_8587insCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103473_2103474dup" "" "pathogenic (dominant)" "" "0000672625" "0" "90" "16" "2153475" "2153475" "del" "0" "00006" "PKD1_001843" "g.2153475del" "" "{PKDdb:PKD1;8586delC;2438}" "" "8586delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103474del" "" "pathogenic (dominant)" "" "0000672626" "0" "30" "16" "2153465" "2153465" "subst" "0.000211786" "00006" "PKD1_001842" "g.2153465G>A" "" "{PKDdb:PKD1;R2865W;1820}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103464G>A" "" "likely benign" "" "0000672627" "0" "30" "16" "2153463" "2153463" "subst" "0" "00006" "PKD1_001841" "g.2153463C>T" "" "{PKDdb:PKD1;8595G%3EA;693}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103462C>T" "" "likely benign" "" "0000672628" "0" "70" "16" "2153461" "2153461" "subst" "0" "00006" "PKD1_000348" "g.2153461A>G" "" "{PKDdb:PKD1;L2866P;1489}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103460A>G" "" "likely pathogenic (dominant)" "" "0000672629" "0" "90" "16" "2153455" "2153455" "subst" "0" "00006" "PKD1_001840" "g.2153455G>T" "" "{PKDdb:PKD1;S2868X;2439}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103454G>T" "" "pathogenic (dominant)" "" "0000672630" "0" "90" "16" "2153453" "2153454" "ins" "0" "00006" "PKD1_001839" "g.2153453_2153454insAA" "" "{PKDdb:PKD1;8604_8605insTT;694}" "" "8604_8605insTT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103452_2103453insAA" "" "pathogenic (dominant)" "" "0000672631" "0" "90" "16" "2153453" "2153454" "del" "0" "00006" "PKD1_000347" "g.2153453_2153454del" "" "{PKDdb:PKD1;8606_8607delAG;695}" "" "8606_8607delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103452_2103453del" "" "pathogenic (dominant)" "" "0000672632" "0" "30" "16" "2153449" "2153449" "subst" "0.000277696" "00006" "PKD1_001838" "g.2153449C>T" "" "{PKDdb:PKD1;R2870H;1821}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103448C>T" "" "likely benign" "" "0000672633" "0" "90" "16" "2153444" "2153444" "del" "0" "00006" "PKD1_001837" "g.2153444del" "" "{PKDdb:PKD1;8614delA;696}" "" "8614delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103443del" "" "pathogenic (dominant)" "" "0000672634" "0" "70" "16" "2153443" "2153443" "subst" "0" "00006" "PKD1_001836" "g.2153443A>C" "" "{PKDdb:PKD1;I2872S;2254}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103442A>C" "" "likely pathogenic (dominant)" "" "0000672635" "0" "90" "16" "2153441" "2153441" "del" "0" "00006" "PKD1_001835" "g.2153441del" "" "{PKDdb:PKD1;8617delA;697}" "" "8617delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103440del" "" "pathogenic (dominant)" "" "0000672636" "0" "30" "16" "2153438" "2153438" "subst" "7.80911E-5" "00006" "PKD1_001834" "g.2153438C>T" "" "{PKDdb:PKD1;V2874M;2065}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103437C>T" "" "likely benign" "" "0000672637" "0" "70" "16" "2153419" "2153419" "subst" "8.66814E-6" "00006" "PKD1_001833" "g.2153419G>A" "" "{PKDdb:PKD1;S2880L;1946}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103418G>A" "" "likely pathogenic (dominant)" "" "0000672638" "0" "30" "16" "2153414" "2153414" "subst" "0.0118265" "00006" "PKD1_001832" "g.2153414A>T" "" "{PKDdb:PKD1;W2882R;2120}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103413A>T" "" "likely benign" "" "0000672639" "0" "90" "16" "2153404" "2153404" "del" "0" "00006" "PKD1_001831" "g.2153404del" "" "{PKDdb:PKD1;8657delG;698}" "" "8657delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103403del" "" "pathogenic (dominant)" "" "0000672640" "0" "30" "16" "2153396" "2153396" "subst" "0" "00006" "PKD1_001830" "g.2153396G>C" "" "{PKDdb:PKD1;R2888G;1822}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103395G>C" "" "likely benign" "" "0000672641" "0" "30" "16" "2153392" "2153392" "subst" "4.31369E-6" "00006" "PKD1_001829" "g.2153392C>T" "" "{PKDdb:PKD1;S2889N;1948}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103391C>T" "" "likely benign" "" "0000672642" "0" "50" "16" "2153386" "2153394" "del" "0" "00006" "PKD1_001827" "g.2153386_2153394del" "" "{PKDdb:PKD1;S2889_A2891del3;1947}" "" "8666_8674delGCTCCGCC..." "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103385_2103393del" "" "VUS" "" "0000672643" "0" "30" "16" "2153391" "2153391" "subst" "4.31183E-6" "00006" "PKD1_000472" "g.2153391G>C" "" "{PKDdb:PKD1;S2889R;1949}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103390G>C" "" "likely benign" "" "0000672644" "0" "30" "16" "2153388" "2153388" "subst" "1.29163E-5" "00006" "PKD1_001828" "g.2153388G>A" "" "{PKDdb:PKD1;8670C%3ET;2293}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103387G>A" "" "likely benign" "" "0000672645" "0" "30" "16" "2153379" "2153379" "subst" "0.00356466" "00006" "PKD1_001825" "g.2153379G>C" "" "{PKDdb:PKD1;8679C%3EG;699}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103378G>C" "" "likely benign" "" "0000672646" "0" "90" "16" "2153380" "2153380" "del" "0" "00006" "PKD1_001826" "g.2153380del" "" "{PKDdb:PKD1;8679delC;2440}" "" "8679delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103379del" "" "pathogenic (dominant)" "" "0000672647" "0" "30" "16" "2153383" "2153391" "del" "0" "00006" "PKD1_000282" "g.2153383_2153391del" "" "{PKDdb:PKD1;A2894_S2896del3;810}" "" "8681_8689delCCAACTCC..." "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103382_2103390del" "" "likely benign" "" "0000672648" "0" "30" "16" "2153369" "2153369" "subst" "0.000313523" "00006" "PKD1_000822" "g.2153369C>T" "" "{PKDdb:PKD1;V2897I;2066}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103368C>T" "" "likely benign" "" "0000672649" "0" "90" "16" "2153360" "2153360" "subst" "0" "00006" "PKD1_000034" "g.2153360G>A" "" "{PKDdb:PKD1;Q2900X;1690}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103359G>A" "" "pathogenic (dominant)" "" "0000672650" "0" "50" "16" "2153356" "2153356" "subst" "0" "00006" "PKD1_001824" "g.2153356G>A" "" "{PKDdb:PKD1;P2901L;1606}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103355G>A" "" "VUS" "" "0000672651" "0" "90" "16" "2153347" "2153347" "dup" "0" "00006" "PKD1_001823" "g.2153347dup" "" "{PKDdb:PKD1;8712_8713insC;700}" "" "8712_8713insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103346dup" "" "pathogenic (dominant)" "" "0000672652" "0" "30" "16" "2153345" "2153345" "subst" "0.00163641" "00006" "PKD1_001117" "g.2153345C>T" "" "{PKDdb:PKD1;V2905I;2067}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103344C>T" "" "likely benign" "" "0000672653" "0" "30" "16" "2153342" "2153342" "subst" "0.000114431" "00006" "PKD1_000945" "g.2153342C>T" "" "{PKDdb:PKD1;G2906S;1037}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103341C>T" "" "likely benign" "" "0000672654" "0" "30" "16" "2153308" "2153308" "subst" "0.000422849" "00006" "PKD1_001822" "g.2153308G>A" "" "{PKDdb:PKD1;A2917V;811}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103307G>A" "" "likely benign" "" "0000672655" "0" "30" "16" "2153307" "2153307" "subst" "7.95099E-5" "00006" "PKD1_001821" "g.2153307C>T" "" "{PKDdb:PKD1;8751G%3EA;2294}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103306C>T" "" "likely benign" "" "0000672656" "0" "50" "16" "2153303" "2153303" "subst" "0.000142086" "00006" "PKD1_001820" "g.2153303C>T" "" "{PKDdb:PKD1;G2919R;1038}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2103302C>T" "" "VUS" "" "0000672657" "0" "70" "16" "2153302" "2153302" "subst" "0" "00006" "PKD1_001819" "g.2153302C>A" "" "{PKDdb:PKD1;G2919V;1039}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103301C>A" "" "likely pathogenic (dominant)" "" "0000672658" "0" "70" "16" "2153296" "2153296" "subst" "0" "00006" "PKD1_000085" "g.2153296T>G" "" "{PKDdb:PKD1;H2921P;1078}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103295T>G" "" "likely pathogenic (dominant)" "" "0000672659" "0" "90" "16" "2153291" "2153291" "subst" "0" "00006" "PKD1_001818" "g.2153291G>A" "" "{PKDdb:PKD1;Q2923X;1691}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103290G>A" "" "pathogenic (dominant)" "" "0000672660" "0" "90" "16" "2153284" "2153288" "del" "0" "00006" "PKD1_001817" "g.2153284_2153288del" "" "{PKDdb:PKD1;8772_8776del5;702}" "" "8772_8776delCAACT" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103283_2103287del" "" "pathogenic (dominant)" "" "0000672661" "0" "30" "16" "2153278" "2153278" "subst" "0.00012088" "00006" "PKD1_001816" "g.2153278G>A" "" "{PKDdb:PKD1;T2927M;2017}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103277G>A" "" "likely benign" "" "0000672662" "0" "90" "16" "2153271" "2153272" "ins" "0" "00006" "PKD1_001815" "g.2153271_2153272insN[24]" "" "{PKDdb:PKD1;L2929_D2930ins8;1490}" "" "8786_8787ins24" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103270_2103271insN[24]" "" "pathogenic (dominant)" "" "0000672663" "0" "70" "16" "2153262" "2153262" "subst" "0" "00006" "PKD1_001814" "g.2153262C>G" "" "{PKDdb:PKD1;IVS23~5G%3EC;1226}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103261C>G" "" "likely pathogenic (dominant)" "" "0000672664" "0" "30" "16" "2153255" "2153255" "subst" "0.0002984" "00006" "PKD1_001813" "g.2153255C>T" "" "{PKDdb:PKD1;IVS23~12G%3EA;2315}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103254C>T" "" "likely benign" "" "0000672665" "0" "30" "16" "2153242" "2153242" "subst" "4.27011E-5" "00006" "PKD1_001812" "g.2153242C>T" "" "{PKDdb:PKD1;IVS23~25G%3EA;1223}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103241C>T" "" "likely benign" "" "0000672666" "0" "30" "16" "2153240" "2153240" "subst" "0.00110687" "00006" "PKD1_001811" "g.2153240C>T" "" "{PKDdb:PKD1;IVS23~27G%3EA;1224}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103239C>T" "" "likely benign" "" "0000672667" "0" "30" "16" "2153208" "2153208" "subst" "0" "00006" "PKD1_001810" "g.2153208A>G" "" "{PKDdb:PKD1;IVS23~59T%3EC;1225}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103207A>G" "" "likely benign" "" "0000672668" "0" "30" "16" "2153058" "2153058" "dup" "0" "00006" "PKD1_001809" "g.2153058dup" "" "{PKDdb:PKD1;IVS23-88_-87insA;1233}" "" "8792-88_-87insA" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103057dup" "" "likely benign" "" "0000672669" "0" "30" "16" "2153005" "2153005" "subst" "0" "00006" "PKD1_001808" "g.2153005G>T" "" "{PKDdb:PKD1;IVS23-34C%3EA;1232}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103004G>T" "" "likely benign" "" "0000672670" "0" "30" "16" "2153003" "2153003" "subst" "4.31648E-5" "00006" "PKD1_001807" "g.2153003C>T" "" "{PKDdb:PKD1;IVS23-32G%3EA;1231}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2103002C>T" "" "likely benign" "" "0000672671" "0" "30" "16" "2152985" "2152985" "subst" "0.000565221" "00006" "PKD1_001806" "g.2152985C>T" "" "{PKDdb:PKD1;IVS23-14G%3EA;1227}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102984C>T" "" "likely benign" "" "0000672672" "0" "90" "16" "2152973" "2152973" "subst" "0" "00006" "PKD1_001805" "g.2152973T>C" "" "{PKDdb:PKD1;IVS23-2A%3EG;1230}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102972T>C" "" "pathogenic (dominant)" "" "0000672673" "0" "90" "16" "2152972" "2152972" "subst" "0" "00006" "PKD1_001804" "g.2152972C>G" "" "{PKDdb:PKD1;IVS23-1G%3EC;1228}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102971C>G" "" "pathogenic (dominant)" "" "0000672674" "0" "90" "16" "2152964" "2152964" "subst" "0" "00006" "PKD1_001803" "g.2152964G>C" "" "{PKDdb:PKD1;Y2933X;2441}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102963G>C" "" "pathogenic (dominant)" "" "0000672675" "0" "50" "16" "2152959" "2152959" "subst" "8.33618E-6" "00006" "PKD1_001802" "g.2152959G>A" "" "{PKDdb:PKD1;S2935F;1950}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102958G>A" "" "VUS" "" "0000672676" "0" "70" "16" "2152944" "2152944" "subst" "0" "00006" "PKD1_001801" "g.2152944G>A" "" "{PKDdb:PKD1;P2940L;1607}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102943G>A" "" "likely pathogenic (dominant)" "" "0000672677" "0" "90" "16" "2152941" "2152944" "del" "0" "00006" "PKD1_001799" "g.2152941_2152944del" "" "{PKDdb:PKD1;8822_8825del4;703}" "" "8822_8825delACCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102940_2102943del" "" "pathogenic (dominant)" "" "0000672678" "0" "30" "16" "2152940" "2152940" "subst" "4.12844E-6" "00006" "PKD1_001800" "g.2152940G>A" "" "{PKDdb:PKD1;8823C%3ET;704}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102939G>A" "" "likely benign" "" "0000672679" "0" "90" "16" "2152940" "2152940" "subst" "0" "00006" "PKD1_000471" "g.2152940G>T" "" "{PKDdb:PKD1;Y2941X;2174}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102939G>T" "" "pathogenic (dominant)" "" "0000672680" "0" "70" "16" "2152938" "2152938" "subst" "0" "00006" "PKD1_001797" "g.2152938A>G" "" "{PKDdb:PKD1;L2942P;1491}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102937A>G" "" "likely pathogenic (dominant)" "" "0000672681" "0" "70" "16" "2152938" "2152938" "subst" "0" "00006" "PKD1_001798" "g.2152938A>T" "" "{PKDdb:PKD1;L2942Q;1492}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102937A>T" "" "likely pathogenic (dominant)" "" "0000672682" "0" "70" "16" "2152929" "2152929" "subst" "2.87644E-5" "00006" "PKD1_001796" "g.2152929T>C" "" "{PKDdb:PKD1;Y2945C;2175}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102928T>C" "" "likely pathogenic (dominant)" "" "0000672683" "0" "90" "16" "2152920" "2152920" "subst" "0" "00006" "PKD1_001795" "g.2152920G>T" "" "{PKDdb:PKD1;S2948X;2255}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102919G>T" "" "pathogenic (dominant)" "" "0000672684" "0" "30" "16" "2152913" "2152913" "subst" "9.01396E-5" "00006" "PKD1_001794" "g.2152913G>A" "" "{PKDdb:PKD1;8850C%3ET;705}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102912G>A" "" "likely benign" "" "0000672685" "0" "30" "16" "2152890" "2152890" "subst" "6.95257E-5" "00006" "PKD1_001793" "g.2152890G>A" "" "{PKDdb:PKD1;S2958L;1951}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102889G>A" "" "likely benign" "" "0000672686" "0" "30" "16" "2152889" "2152889" "subst" "5.72499E-5" "00006" "PKD1_001792" "g.2152889C>T" "" "{PKDdb:PKD1;8874G%3EA;706}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102888C>T" "" "likely benign" "" "0000672687" "0" "30" "16" "2152865" "2152865" "subst" "0.0120695" "00006" "PKD1_000152" "g.2152865C>G" "" "{PKDdb:PKD1;E2966D;939}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102864C>G" "" "likely benign" "" "0000672688" "0" "90" "16" "2152858" "2152858" "subst" "0" "00006" "PKD1_000209" "g.2152858G>A" "" "{PKDdb:PKD1;Q2969X;1692}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102857G>A" "" "pathogenic (dominant)" "" "0000672689" "0" "30" "16" "2152850" "2152850" "subst" "0.0076062" "00006" "PKD1_000537" "g.2152850A>G" "" "{PKDdb:PKD1;8913T%3EC;707}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102849A>G" "" "likely benign" "" "0000672690" "0" "30" "16" "2152849" "2152849" "subst" "9.4048E-5" "00006" "PKD1_001791" "g.2152849C>T" "" "{PKDdb:PKD1;D2972N;891}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102848C>T" "" "likely benign" "" "0000672691" "0" "30" "16" "2152847" "2152847" "subst" "0.000568475" "00006" "PKD1_001790" "g.2152847G>A" "" "{PKDdb:PKD1;8916C%3ET;708}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102846G>A" "" "likely benign" "" "0000672692" "0" "50" "16" "2152845" "2152845" "subst" "0" "00006" "PKD1_001789" "g.2152845T>C" "" "{PKDdb:PKD1;H2973R;1079}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102844T>C" "" "VUS" "" "0000672693" "0" "70" "16" "2152843" "2152843" "subst" "2.86362E-5" "00006" "PKD1_001788" "g.2152843G>A" "" "{PKDdb:PKD1;R2974W;1826}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102842G>A" "" "likely pathogenic (dominant)" "" "0000672694" "0" "30" "16" "2152842" "2152842" "subst" "2.86467E-5" "00006" "PKD1_001787" "g.2152842C>T" "" "{PKDdb:PKD1;R2974Q;1825}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102841C>T" "" "likely benign" "" "0000672695" "0" "90" "16" "2152839" "2152840" "ins" "0" "00006" "PKD1_001786" "g.2152839_2152840insA" "" "{PKDdb:PKD1;8923_8924insT;709}" "" "8923_8924insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102838_2102839insA" "" "pathogenic (dominant)" "" "0000672696" "0" "70" "16" "2152833" "2152833" "subst" "0" "00006" "PKD1_001784" "g.2152833G>A" "" "{PKDdb:PKD1;T2977I;2550}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102832G>A" "" "likely pathogenic (dominant)" "" "0000672697" "0" "50" "16" "2152833" "2152833" "subst" "0" "00006" "PKD1_001785" "g.2152833G>T" "" "{PKDdb:PKD1;T2977N;2018}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102832G>T" "" "VUS" "" "0000672698" "0" "70" "16" "2152830" "2152831" "delins" "0" "00006" "PKD1_001783" "g.2152830_2152831delinsGT" "" "{PKDdb:PKD1;F2978T;2520}" "" "8932_8933delTTinsAC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102829_2102830delinsGT" "" "likely pathogenic (dominant)" "" "0000672699" "0" "70" "16" "2152830" "2152830" "subst" "0" "00006" "PKD1_001781" "g.2152830A>C" "" "{PKDdb:PKD1;F2978C;2616}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102829A>C" "" "likely pathogenic (dominant)" "" "0000672700" "0" "70" "16" "2152830" "2152830" "subst" "0" "00006" "PKD1_001782" "g.2152830A>G" "" "{PKDdb:PKD1;F2978S;985}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102829A>G" "" "likely pathogenic (dominant)" "" "0000672701" "0" "70" "16" "2152830" "2152832" "del" "0" "00006" "PKD1_000161" "g.2152830_2152832del" "" "{PKDdb:PKD1;F2979del;987}" "" "8935_8937delTTC" "highly likely pathogenic in ADPKDdb; reported in 5 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102829_2102831del" "" "likely pathogenic (dominant)" "" "0000672702" "0" "90" "16" "2152814" "2152814" "subst" "0" "00006" "PKD1_001780" "g.2152814C>A" "" "{PKDdb:PKD1;IVS24~1G%3ET;1237}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102813C>A" "" "pathogenic (dominant)" "" "0000672703" "0" "70" "16" "2152810" "2152810" "subst" "0" "00006" "PKD1_001779" "g.2152810C>G" "" "{PKDdb:PKD1;IVS24~5G%3EC;1240}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102809C>G" "" "likely pathogenic (dominant)" "" "0000672704" "0" "30" "16" "2152804" "2152804" "subst" "0.00505187" "00006" "PKD1_001778" "g.2152804G>A" "" "{PKDdb:PKD1;IVS24~11C%3ET;1234}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102803G>A" "" "likely benign" "" "0000672705" "0" "30" "16" "2152803" "2152803" "subst" "0.000188932" "00006" "PKD1_001777" "g.2152803C>T" "" "{PKDdb:PKD1;IVS24~12G%3EA;1235}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102802C>T" "" "likely benign" "" "0000672706" "0" "30" "16" "2152798" "2152798" "subst" "0.00734956" "00006" "PKD1_001776" "g.2152798T>C" "" "{PKDdb:PKD1;IVS24~17A%3EG;1236}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102797T>C" "" "likely benign" "" "0000672707" "0" "30" "16" "2152787" "2152787" "subst" "0.000546839" "00006" "PKD1_001775" "g.2152787C>A" "" "{PKDdb:PKD1;IVS24~28G%3ET;1238}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102786C>A" "" "likely benign" "" "0000672708" "0" "30" "16" "2152781" "2152781" "subst" "0.000296191" "00006" "PKD1_001774" "g.2152781G>A" "" "{PKDdb:PKD1;IVS24~34C%3ET;1239}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102780G>A" "" "likely benign" "" "0000672709" "0" "30" "16" "2152735" "2152735" "subst" "0" "00006" "PKD1_001773" "g.2152735T>C" "" "{PKDdb:PKD1;IVS24~80A%3EG;1241}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102734T>C" "" "likely benign" "" "0000672710" "0" "30" "16" "2152688" "2152688" "subst" "0" "00006" "PKD1_001772" "g.2152688C>T" "" "{PKDdb:PKD1;IVS24-54G%3EA;1246}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102687C>T" "" "likely benign" "" "0000672711" "0" "90" "16" "2149644" "2152635" "del" "0" "00006" "PKD1_001615" "g.(2147986_2149644)_(2152635_2152814)del" "" "{PKDdb:PKD1;IVS24-28_IVS30~48del3065;1245}" "" "8949_10051del1102" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.(2097985_2099643)_(2102634_2102813)del" "" "pathogenic (dominant)" "" "0000672712" "0" "30" "16" "2152654" "2152654" "subst" "0.0079763" "00006" "PKD1_001771" "g.2152654C>T" "" "{PKDdb:PKD1;IVS24-20G%3EA;1244}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102653C>T" "" "likely benign" "" "0000672713" "0" "30" "16" "2152651" "2152651" "subst" "0.160536" "00006" "PKD1_001770" "g.2152651T>C" "" "{PKDdb:PKD1;IVS24-17A%3EG;1243}" "" "" "reported in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102650T>C" "" "likely benign" "" "0000672714" "0" "30" "16" "2152649" "2152649" "subst" "0.000127039" "00006" "PKD1_001769" "g.2152649G>C" "" "{PKDdb:PKD1;IVS24-15C%3EG;1242}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102648G>C" "" "likely benign" "" "0000672715" "0" "30" "16" "2152634" "2152634" "subst" "4.09527E-6" "00006" "PKD1_001768" "g.2152634C>T" "" "{PKDdb:PKD1;8949G%3EA;710}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102633C>T" "" "likely benign" "" "0000672716" "0" "30" "16" "2152630" "2152630" "subst" "8.19008E-6" "00006" "PKD1_000156" "g.2152630T>C" "" "{PKDdb:PKD1;R2985G;1827}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102629T>C" "" "likely benign" "" "0000672717" "0" "50" "16" "2152620" "2152620" "subst" "6.14517E-5" "00006" "PKD1_001767" "g.2152620G>A" "" "{PKDdb:PKD1;A2988V;813}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102619G>A" "" "VUS" "" "0000672718" "0" "30" "16" "2152619" "2152619" "subst" "0.00749875" "00006" "PKD1_001043" "g.2152619C>T" "" "{PKDdb:PKD1;8964G%3EA;711}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102618C>T" "" "likely benign" "" "0000672719" "0" "90" "16" "2152611" "2152611" "dup" "0" "00006" "PKD1_001766" "g.2152611dup" "" "{PKDdb:PKD1;8972_8973insA;2442}" "" "8972_8973insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102610dup" "" "pathogenic (dominant)" "" "0000672720" "0" "90" "16" "2152610" "2152610" "subst" "0" "00006" "PKD1_000191" "g.2152610G>C" "" "{PKDdb:PKD1;Y2991X;2176}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102609G>C" "" "pathogenic (dominant)" "" "0000672721" "0" "70" "16" "2152605" "2152605" "subst" "0" "00006" "PKD1_000020" "g.2152605A>G" "" "{PKDdb:PKD1;L2993P;1493}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102604A>G" "" "likely pathogenic (dominant)" "" "0000672722" "0" "70" "16" "2152599" "2152599" "subst" "0" "00006" "PKD1_001765" "g.2152599A>C" "" "{PKDdb:PKD1;L2995R;2521}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102598A>C" "" "likely pathogenic (dominant)" "" "0000672723" "0" "30" "16" "2152598" "2152598" "subst" "0" "00006" "PKD1_001764" "g.2152598G>T" "" "{PKDdb:PKD1;8985C%3EA;712}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102597G>T" "" "likely benign" "" "0000672724" "0" "70" "16" "2152593" "2152593" "subst" "0" "00006" "PKD1_001763" "g.2152593C>A" "" "{PKDdb:PKD1;S2997I;1953}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102592C>A" "" "likely pathogenic (dominant)" "" "0000672725" "0" "50" "16" "2152585" "2152585" "subst" "1.63713E-5" "00006" "PKD1_001761" "g.2152585G>A" "" "{PKDdb:PKD1;R3000C;1828}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102584G>A" "" "VUS" "" "0000672726" "0" "30" "16" "2152585" "2152585" "subst" "0" "00006" "PKD1_001762" "g.2152585G>C" "" "{PKDdb:PKD1;R3000G;1829}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102584G>C" "" "likely benign" "" "0000672727" "0" "90" "16" "2152581" "2152581" "subst" "0" "00006" "PKD1_000155" "g.2152581C>T" "" "{PKDdb:PKD1;W3001X;2121}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102580C>T" "" "pathogenic (dominant)" "" "0000672728" "0" "30" "16" "2152573" "2152573" "subst" "0" "00006" "PKD1_001760" "g.2152573G>A" "" "{PKDdb:PKD1;9010C%3ET;713}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102572G>A" "" "likely benign" "" "0000672729" "0" "50" "16" "2152572" "2152572" "subst" "0" "00006" "PKD1_001759" "g.2152572A>G" "" "{PKDdb:PKD1;L3004P;1494}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102571A>G" "" "VUS" "" "0000672730" "0" "90" "16" "2152570" "2152570" "subst" "0" "00006" "PKD1_001758" "g.2152570G>A" "" "{PKDdb:PKD1;Q3005X;1693}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102569G>A" "" "pathogenic (dominant)" "" "0000672731" "0" "70" "16" "2152564" "2152564" "subst" "0" "00006" "PKD1_000345" "g.2152564A>G" "" "{PKDdb:PKD1;S3007P;1954}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102563A>G" "" "likely pathogenic (dominant)" "" "0000672732" "0" "30" "16" "2152562" "2152562" "subst" "2.04512E-5" "00006" "PKD1_001757" "g.2152562G>A" "" "{PKDdb:PKD1;9021C%3ET;714}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102561G>A" "" "likely benign" "" "0000672733" "0" "30" "16" "2152561" "2152561" "subst" "0" "00006" "PKD1_000026" "g.2152561C>G" "" "{PKDdb:PKD1;V3008L;2068}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102560C>G" "" "likely benign" "" "0000672734" "0" "30" "16" "2152561" "2152561" "subst" "0.000445957" "00006" "PKD1_001756" "g.2152561C>T" "" "{PKDdb:PKD1;V3008M;2069}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102560C>T" "" "likely benign" "" "0000672735" "0" "90" "16" "2152536" "2152553" "del" "0" "00006" "PKD1_000113" "g.2152536_2152553del" "" "{PKDdb:PKD1;T3012_Y3017del6;2019}" "" "9034_9051delACGTCCCT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102535_2102552del" "" "pathogenic (dominant)" "" "0000672736" "0" "50" "16" "2152548" "2152548" "subst" "0.000139456" "00006" "PKD1_000559" "g.2152548G>A" "" "{PKDdb:PKD1;T3012M;2020}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102547G>A" "" "VUS" "" "0000672737" "0" "90" "16" "2152548" "2152565" "dup" "0" "00006" "PKD1_001755" "g.2152548_2152565dup" "" "{PKDdb:PKD1;T3012_S3013ins6;2443}" "" "9035_9036insGTCCGTGGGCCTGTACAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102547_2102564dup" "" "pathogenic (dominant)" "" "0000672738" "0" "70" "16" "2152539" "2152539" "subst" "0" "00006" "PKD1_001754" "g.2152539C>T" "" "{PKDdb:PKD1;C3015Y;866}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102538C>T" "" "likely pathogenic (dominant)" "" "0000672739" "0" "70" "16" "2152538" "2152538" "subst" "0" "00006" "PKD1_001753" "g.2152538G>C" "" "{PKDdb:PKD1;C3015W;865}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102537G>C" "" "likely pathogenic (dominant)" "" "0000672740" "0" "70" "16" "2152536" "2152536" "subst" "0" "00006" "PKD1_000019" "g.2152536T>C" "" "{PKDdb:PKD1;Q3016R;1695}" "" "" "highly likely pathogenic in ADPKDdb; reported in 7 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102535T>C" "" "likely pathogenic (dominant)" "" "0000672741" "0" "70" "16" "2152530" "2152530" "subst" "0" "00006" "PKD1_001752" "g.2152530A>G" "" "{PKDdb:PKD1;F3018S;988}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102529A>G" "" "likely pathogenic (dominant)" "" "0000672742" "0" "30" "16" "2152526" "2152526" "subst" "2.10832E-5" "00006" "PKD1_001751" "g.2152526G>A" "" "{PKDdb:PKD1;9057C%3ET;715}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102525G>A" "" "likely benign" "" "0000672743" "0" "90" "16" "2152525" "2152525" "subst" "0" "00006" "PKD1_000018" "g.2152525C>A" "" "{PKDdb:PKD1;E3020X;940}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102524C>A" "" "pathogenic (dominant)" "" "0000672744" "0" "30" "16" "2152515" "2152515" "subst" "1.32177E-5" "00006" "PKD1_001750" "g.2152515A>T" "" "{PKDdb:PKD1;M3023K;1549}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102514A>T" "" "likely benign" "" "0000672745" "0" "90" "16" "2152463" "2152501" "del" "0" "00006" "PKD1_001745" "g.2152463_2152501del" "" "{PKDdb:PKD1;E3028_Q3040del13;941}" "" "9082_9120delGAGGGGCT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102462_2102500del" "" "pathogenic (dominant)" "" "0000672746" "0" "90" "16" "2152501" "2152502" "del" "0" "00006" "PKD1_001749" "g.2152501_2152502del" "" "{PKDdb:PKD1;9083_9084delAG;716}" "" "9083_9084delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102500_2102501del" "" "pathogenic (dominant)" "" "0000672747" "0" "90" "16" "2152495" "2152495" "del" "0" "00006" "PKD1_001748" "g.2152495del" "" "{PKDdb:PKD1;9088delC;717}" "" "9088delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102494del" "" "pathogenic (dominant)" "" "0000672748" "0" "70" "16" "2152476" "2152476" "subst" "0" "00006" "PKD1_000344" "g.2152476G>A" "" "{PKDdb:PKD1;T3036I;2021}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102475G>A" "" "likely pathogenic (dominant)" "" "0000672749" "0" "90" "16" "2152473" "2152473" "subst" "0" "00006" "PKD1_001747" "g.2152473G>T" "" "{PKDdb:PKD1;S3037X;1955}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102472G>T" "" "pathogenic (dominant)" "" "0000672750" "0" "30" "16" "2152472" "2152472" "subst" "0.000618079" "00006" "PKD1_001746" "g.2152472C>T" "" "{PKDdb:PKD1;9111G%3EA;719}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102471C>T" "" "likely benign" "" "0000672751" "0" "90" "16" "2152455" "2152476" "del" "0" "00006" "PKD1_001743" "g.2152455_2152476del" "" "{PKDdb:PKD1;9111_9132del22;718}" "" "9111_9132delGCCCCGCC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102454_2102475del" "" "pathogenic (dominant)" "" "0000672752" "0" "70" "16" "2152468" "2152468" "subst" "1.93961E-5" "00006" "PKD1_000154" "g.2152468G>A" "" "{PKDdb:PKD1;R3039C;1830}" "" "" "likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102467G>A" "" "likely pathogenic (dominant)" "" "0000672753" "0" "90" "16" "2152456" "2152456" "del" "0" "00006" "PKD1_001744" "g.2152456del" "" "{PKDdb:PKD1;9127delT;2444}" "" "9127delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102455del" "" "pathogenic (dominant)" "" "0000672754" "0" "90" "16" "2152435" "2152435" "dup" "0" "00006" "PKD1_000506" "g.2152435dup" "" "{PKDdb:PKD1;9148_9149insG;723}" "" "9148_9149insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102434dup" "" "pathogenic (dominant)" "" "0000672755" "0" "70" "16" "2152429" "2152429" "subst" "0" "00006" "PKD1_001741" "g.2152429C>G" "" "{PKDdb:PKD1;G3052R;2551}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102428C>G" "" "likely pathogenic (dominant)" "" "0000672756" "0" "30" "16" "2152429" "2152429" "subst" "0" "00006" "PKD1_001742" "g.2152429C>T" "" "{PKDdb:PKD1;G3052S;1040}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102428C>T" "" "likely benign" "" "0000672757" "0" "50" "16" "2152428" "2152428" "subst" "0" "00006" "PKD1_001740" "g.2152428C>A" "" "{PKDdb:PKD1;G3052V;1041}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102427C>A" "" "VUS" "" "0000672758" "0" "30" "16" "2152427" "2152427" "subst" "0.00126628" "00006" "PKD1_001739" "g.2152427G>A" "" "{PKDdb:PKD1;9156C%3ET;724}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102426G>A" "" "likely benign" "" "0000672759" "0" "30" "16" "2152414" "2152414" "subst" "0.000258395" "00006" "PKD1_001738" "g.2152414C>T" "" "{PKDdb:PKD1;V3057M;2070}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102413C>T" "" "likely benign" "" "0000672760" "0" "30" "16" "2152397" "2152397" "subst" "2.55928E-5" "00006" "PKD1_001737" "g.2152397G>T" "" "{PKDdb:PKD1;9186C%3EA;725}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102396G>T" "" "likely benign" "" "0000672761" "0" "30" "16" "2152396" "2152396" "subst" "0.000224276" "00006" "PKD1_000715" "g.2152396G>A" "" "{PKDdb:PKD1;R3063C;1831}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102395G>A" "" "likely benign" "" "0000672762" "0" "50" "16" "2152395" "2152395" "subst" "0" "00006" "PKD1_001736" "g.2152395C>G" "" "{PKDdb:PKD1;R3063P;1832}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102394C>G" "" "VUS" "" "0000672763" "0" "30" "16" "2152387" "2152388" "delins" "0" "00006" "PKD1_000539" "g.2152387_2152388delinsGG" "" "{PKDdb:PKD1;F3066L;989}" "" "9195G>C+9196T>C" "reported in 13 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102386_2102387delinsGG" "" "likely benign" "" "0000672764" "0" "90" "16" "2152381" "2152381" "subst" "0" "00006" "PKD1_001734" "g.2152381C>G" "" "{PKDdb:PKD1;IVS25~1G%3EC;2445}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102380C>G" "" "pathogenic (dominant)" "" "0000672765" "0" "90" "16" "2152381" "2152381" "subst" "0" "00006" "PKD1_001735" "g.2152381C>A" "" "{PKDdb:PKD1;IVS25~1G%3ET;2446}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102380C>A" "" "pathogenic (dominant)" "" "0000672766" "0" "70" "16" "2152376" "2152376" "subst" "0" "00006" "PKD1_001733" "g.2152376A>G" "" "{PKDdb:PKD1;IVS25~6T%3EC;1247}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102375A>G" "" "likely pathogenic (dominant)" "" "0000672767" "0" "70" "16" "2152273" "2152273" "subst" "7.15871E-6" "00006" "PKD1_001732" "g.2152273C>T" "" "{PKDdb:PKD1;IVS25-16G%3EA;1248}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102272C>T" "" "likely pathogenic (dominant)" "" "0000672768" "0" "90" "16" "2152259" "2152259" "subst" "0" "00006" "PKD1_001731" "g.2152259T>C" "" "{PKDdb:PKD1;IVS25-2A%3EG;1250}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102258T>C" "" "pathogenic (dominant)" "" "0000672769" "0" "90" "16" "2152258" "2152258" "subst" "0" "00006" "PKD1_001730" "g.2152258C>T" "" "{PKDdb:PKD1;IVS25-1G%3EA;1249}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102257C>T" "" "pathogenic (dominant)" "" "0000672770" "0" "30" "16" "2152257" "2152257" "subst" "0" "00006" "PKD1_001729" "g.2152257C>G" "" "{PKDdb:PKD1;E3068Q;943}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102256C>G" "" "likely benign" "" "0000672771" "0" "50" "16" "2152255" "2152255" "subst" "0.000686813" "00006" "PKD1_001728" "g.2152255C>G" "" "{PKDdb:PKD1;E3068D;942}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102254C>G" "" "VUS" "" "0000672772" "0" "50" "16" "2152253" "2152253" "subst" "1.40463E-5" "00006" "PKD1_001727" "g.2152253G>A" "" "{PKDdb:PKD1;P3069L;1608}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102252G>A" "" "VUS" "" "0000672773" "0" "30" "16" "2152246" "2152246" "subst" "3.55351E-5" "00006" "PKD1_001726" "g.2152246C>T" "" "{PKDdb:PKD1;9213G%3EA;726}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102245C>T" "" "likely benign" "" "0000672774" "0" "90" "16" "2152246" "2152246" "del" "0" "00006" "PKD1_001725" "g.2152246del" "" "{PKDdb:PKD1;9214delG;2447}" "" "9214delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102245del" "" "pathogenic (dominant)" "" "0000672775" "0" "70" "16" "2152237" "2152237" "subst" "2.88455E-5" "00006" "PKD1_001190" "g.2152237G>C" "" "{PKDdb:PKD1;N3074K;1569}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102236G>C" "" "likely pathogenic (dominant)" "" "0000672776" "0" "90" "16" "2152240" "2152240" "del" "0" "00006" "PKD1_001724" "g.2152240del" "" "{PKDdb:PKD1;9221delA;727}" "" "9221delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102239del" "" "pathogenic (dominant)" "" "0000672777" "0" "50" "16" "2152226" "2152226" "subst" "0" "00006" "PKD1_001723" "g.2152226A>G" "" "{PKDdb:PKD1;M3078T;1550}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102225A>G" "" "VUS" "" "0000672778" "0" "90" "16" "2152218" "2152219" "del" "0" "00006" "PKD1_000247" "g.2152218_2152219del" "" "{PKDdb:PKD1;9240_9241delAT;729}" "" "9240_9241delAT" "definitely pathogenic in ADPKDdb; reported in 6 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102217_2102218del" "" "pathogenic (dominant)" "" "0000672779" "0" "70" "16" "2152218" "2152218" "subst" "0" "00006" "PKD1_001722" "g.2152218A>G" "" "{PKDdb:PKD1;C3081R;2256}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102217A>G" "" "likely pathogenic (dominant)" "" "0000672780" "0" "30" "16" "2152198" "2152198" "subst" "3.26094E-5" "00006" "PKD1_001721" "g.2152198G>C" "" "{PKDdb:PKD1;9261C%3EG;731}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102197G>C" "" "likely benign" "" "0000672781" "0" "30" "16" "2152195" "2152195" "subst" "5.41536E-5" "00006" "PKD1_001719" "g.2152195G>A" "" "{PKDdb:PKD1;9264C%3ET;732}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102194G>A" "" "likely benign" "" "0000672782" "0" "90" "16" "2152195" "2152195" "subst" "0" "00006" "PKD1_001720" "g.2152195G>C" "" "{PKDdb:PKD1;Y3088X;2177}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102194G>C" "" "pathogenic (dominant)" "" "0000672783" "0" "30" "16" "2152189" "2152189" "subst" "0.0100418" "00006" "PKD1_001718" "g.2152189G>A" "" "{PKDdb:PKD1;9270C%3ET;733}" "" "" "reported in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102188G>A" "" "likely benign" "" "0000672784" "0" "90" "16" "2152166" "2152176" "del" "0" "00006" "PKD1_001717" "g.2152166_2152176del" "" "{PKDdb:PKD1;9283_9293del11;2448}" "" "9283_9293delCTGCACAA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102165_2102175del" "" "pathogenic (dominant)" "" "0000672785" "0" "50" "16" "2152146" "2152146" "subst" "1.351E-5" "00006" "PKD1_000441" "g.2152146G>A" "" "{PKDdb:PKD1;R3105W;1835}" "" "" "likely hypomorphic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102145G>A" "" "VUS (!)" "" "0000672786" "0" "90" "16" "2152145" "2152145" "dup" "0" "00006" "PKD1_001716" "g.2152145dup" "" "{PKDdb:PKD1;9317_9318insG;2570}" "" "9317_9318insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102144dup" "" "pathogenic (dominant)" "" "0000672787" "0" "90" "16" "2152138" "2152142" "dup" "0" "00006" "PKD1_000278" "g.2152138_2152142dup" "" "{PKDdb:PKD1;9324_9325ins5;734}" "" "9324_9325insGCGCC" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102137_2102141dup" "" "pathogenic (dominant)" "" "0000672788" "0" "30" "16" "2152129" "2152129" "subst" "0.0313672" "00006" "PKD1_000773" "g.2152129A>G" "" "{PKDdb:PKD1;9330T%3EC;735}" "" "" "reported in 13 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2102128A>G" "" "likely benign" "" "0000672789" "0" "70" "16" "2152124" "2152124" "subst" "0" "00006" "PKD1_001714" "g.2152124C>A" "" "{PKDdb:PKD1;C3112F;867}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102123C>A" "" "likely pathogenic (dominant)" "" "0000672790" "0" "70" "16" "2152124" "2152124" "subst" "0" "00006" "PKD1_001715" "g.2152124C>T" "" "{PKDdb:PKD1;C3112Y;868}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102123C>T" "" "likely pathogenic (dominant)" "" "0000672791" "0" "30" "16" "2152115" "2152115" "subst" "3.27485E-5" "00006" "PKD1_001713" "g.2152115C>T" "" "{PKDdb:PKD1;R3115Q;1836}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102114C>T" "" "likely benign" "" "0000672792" "0" "30" "16" "2152110" "2152110" "subst" "8.69129E-5" "00006" "PKD1_001712" "g.2152110G>A" "" "{PKDdb:PKD1;R3117C;1837}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102109G>A" "" "likely benign" "" "0000672793" "0" "30" "16" "2152109" "2152109" "subst" "0" "00006" "PKD1_001040" "g.2152109C>T" "" "{PKDdb:PKD1;R3117H;1838}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102108C>T" "" "likely benign" "" "0000672794" "0" "70" "16" "2152098" "2152098" "subst" "0" "00006" "PKD1_000555" "g.2152098C>T" "" "{PKDdb:PKD1;E3121K;2617}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102097C>T" "" "likely pathogenic (dominant)" "" "0000672795" "0" "70" "16" "2152082" "2152082" "subst" "0" "00006" "PKD1_001710" "g.2152082G>A" "" "{PKDdb:PKD1;T3126I;2522}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102081G>A" "" "likely pathogenic (dominant)" "" "0000672796" "0" "70" "16" "2152082" "2152082" "subst" "0" "00006" "PKD1_001711" "g.2152082G>T" "" "{PKDdb:PKD1;T3126K;2022}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102081G>T" "" "likely pathogenic (dominant)" "" "0000672797" "0" "90" "16" "2152075" "2152075" "subst" "0" "00006" "PKD1_001709" "g.2152075C>T" "" "{PKDdb:PKD1;W3128X;2123}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102074C>T" "" "pathogenic (dominant)" "" "0000672798" "0" "70" "16" "2152071" "2152071" "subst" "5.59018E-5" "00006" "PKD1_001039" "g.2152071G>A" "" "{PKDdb:PKD1;R3130W;1839}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102070G>A" "" "likely pathogenic (dominant)" "" "0000672799" "0" "70" "16" "2152071" "2152076" "del" "0" "00006" "PKD1_001708" "g.2152071_2152076del" "" "{PKDdb:PKD1;R3130_G3131del2;2257}" "" "9388_9393delCGGGGC" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102070_2102075del" "" "likely pathogenic (dominant)" "" "0000672800" "0" "70" "16" "2152064" "2152064" "subst" "0" "00006" "PKD1_001707" "g.2152064G>A" "" "{PKDdb:PKD1;S3132L;2618}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102063G>A" "" "likely pathogenic (dominant)" "" "0000672801" "0" "90" "16" "2152061" "2152061" "subst" "0" "00006" "PKD1_000772" "g.2152061C>T" "" "{PKDdb:PKD1;IVS26~1G%3EA;1252}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102060C>T" "" "pathogenic (dominant)" "" "0000672802" "0" "30" "16" "2152050" "2152050" "subst" "7.13776E-5" "00006" "PKD1_001706" "g.2152050T>C" "" "{PKDdb:PKD1;IVS26~12A%3EG;1251}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102049T>C" "" "likely benign" "" "0000672803" "0" "30" "16" "2152040" "2152040" "subst" "0.000325069" "00006" "PKD1_001705" "g.2152040G>A" "" "{PKDdb:PKD1;IVS26~22C%3ET;1254}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2102039G>A" "" "likely benign" "" "0000672804" "0" "30" "16" "2151986" "2151986" "subst" "0" "00006" "PKD1_001704" "g.2151986G>T" "" "{PKDdb:PKD1;IVS26~76C%3EA;1256}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2101985G>T" "" "likely benign" "" "0000672805" "0" "30" "16" "2151981" "2151981" "subst" "0" "00006" "PKD1_000552" "g.2151981G>T" "" "{PKDdb:PKD1;IVS26~81C%3EA;1257}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2101980G>T" "" "likely benign" "" "0000672806" "0" "30" "16" "2151848" "2151848" "subst" "0" "00006" "PKD1_001703" "g.2151848C>T" "" "{PKDdb:PKD1;IVS26~214G%3EA;1253}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2101847C>T" "" "likely benign" "" "0000672807" "0" "90" "16" "2142606" "2151819" "del" "0" "00006" "PKD1_001453" "g.2142606_2151819del" "" "{PKDdb:PKD1;IVS26~243_IVS38-13del9213;1255}" "" "9397_11156del1758" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092605_2101818del" "" "pathogenic (dominant)" "" "0000672808" "0" "30" "16" "2150614" "2150614" "subst" "0.000631429" "00006" "PKD1_001702" "g.2150614A>C" "" "{PKDdb:PKD1;IVS26-47T%3EG;1258}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100613A>C" "" "likely benign" "" "0000672809" "0" "70" "16" "2150561" "2150561" "subst" "0" "00006" "PKD1_000627" "g.2150561G>A" "" "{PKDdb:PKD1;T3135M;2023}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100560G>A" "" "likely pathogenic (dominant)" "" "0000672810" "0" "70" "16" "2150556" "2150556" "subst" "0" "00006" "PKD1_001701" "g.2150556G>A" "" "{PKDdb:PKD1;H3137Y;1080}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100555G>A" "" "likely pathogenic (dominant)" "" "0000672811" "0" "70" "16" "2150551" "2150553" "del" "0" "00006" "PKD1_000215" "g.2150551_2150553del" "" "{PKDdb:PKD1;V3138del;2071}" "" "9412_9414delGTG" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100550_2100552del" "" "likely pathogenic (dominant)" "" "0000672812" "0" "70" "16" "2150553" "2150553" "subst" "8.26733E-6" "00006" "PKD1_000254" "g.2150553C>T" "" "{PKDdb:PKD1;V3138M;2073}" "" "" "likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100552C>T" "" "likely pathogenic (dominant)" "" "0000672813" "0" "70" "16" "2150552" "2150552" "subst" "0" "00006" "PKD1_001700" "g.2150552A>T" "" "{PKDdb:PKD1;V3138E;2072}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100551A>T" "" "likely pathogenic (dominant)" "" "0000672814" "0" "50" "16" "2150549" "2150549" "subst" "0" "00006" "PKD1_001699" "g.2150549C>A" "" "{PKDdb:PKD1;G3139V;1042}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100548C>A" "" "VUS" "" "0000672815" "0" "30" "16" "2150544" "2150544" "subst" "0" "00006" "PKD1_001698" "g.2150544T>G" "" "{PKDdb:PKD1;M3141L;1551}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100543T>G" "" "likely benign" "" "0000672816" "0" "70" "16" "2150540" "2150540" "subst" "0" "00006" "PKD1_001697" "g.2150540A>G" "" "{PKDdb:PKD1;L3142P;1495}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100539A>G" "" "likely pathogenic (dominant)" "" "0000672817" "0" "70" "16" "2150535" "2150535" "subst" "0" "00006" "PKD1_001696" "g.2150535C>A" "" "{PKDdb:PKD1;G3144W;2552}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100534C>A" "" "likely pathogenic (dominant)" "" "0000672818" "0" "70" "16" "2150534" "2150534" "subst" "0" "00006" "PKD1_001695" "g.2150534C>T" "" "{PKDdb:PKD1;G3144E;1043}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100533C>T" "" "likely pathogenic (dominant)" "" "0000672819" "0" "30" "16" "2150509" "2150509" "subst" "0.000414277" "00006" "PKD1_001694" "g.2150509C>T" "" "{PKDdb:PKD1;9456G%3EA;738}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100508C>T" "" "likely benign" "" "0000672820" "0" "70" "16" "2150504" "2150504" "subst" "0" "00006" "PKD1_000470" "g.2150504A>G" "" "{PKDdb:PKD1;L3154P;1496}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100503A>G" "" "likely pathogenic (dominant)" "" "0000672821" "0" "30" "16" "2150497" "2150497" "subst" "0.00011846" "00006" "PKD1_001693" "g.2150497G>A" "" "{PKDdb:PKD1;9468C%3ET;739}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100496G>A" "" "likely benign" "" "0000672822" "0" "90" "16" "2150492" "2150493" "del" "0" "00006" "PKD1_000432" "g.2150492_2150493del" "" "{PKDdb:PKD1;9474_9475delAG;740}" "" "9474_9475delAG" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100491_2100492del" "" "pathogenic (dominant)" "" "0000672823" "0" "50" "16" "2150481" "2150481" "subst" "1.63239E-5" "00006" "PKD1_001692" "g.2150481G>A" "" "{PKDdb:PKD1;R3162C;1840}" "" "" "likely hypomorphic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100480G>A" "" "VUS (!)" "" "0000672824" "0" "70" "16" "2150480" "2150480" "subst" "0" "00006" "PKD1_001691" "g.2150480C>A" "" "{PKDdb:PKD1;R3162L;2553}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100479C>A" "" "likely pathogenic (dominant)" "" "0000672825" "0" "50" "16" "2150466" "2150466" "subst" "0.000991262" "00006" "PKD1_000190" "g.2150466T>A" "" "{PKDdb:PKD1;I3167F;1100}" "" "" "indeterminate in ADPKDdb; reported in 10 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100465T>A" "" "VUS" "" "0000672826" "0" "70" "16" "2150463" "2150465" "del" "0" "00006" "PKD1_000343" "g.2150463_2150465del" "" "{PKDdb:PKD1;F3168del;990}" "" "9502_9504delTTC" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100462_2100464del" "" "likely pathogenic (dominant)" "" "0000672827" "0" "70" "16" "2150461" "2150461" "subst" "0" "00006" "PKD1_000342" "g.2150461G>C" "" "{PKDdb:PKD1;F3168L;991}" "" "" "highly likely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100460G>C" "" "likely pathogenic (dominant)" "" "0000672828" "0" "30" "16" "2150459" "2150459" "subst" "0.00061188" "00006" "PKD1_000623" "g.2150459C>T" "" "{PKDdb:PKD1;R3169Q;1841}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100458C>T" "" "likely benign" "" "0000672829" "0" "70" "16" "2150454" "2150454" "subst" "0" "00006" "PKD1_000341" "g.2150454C>G" "" "{PKDdb:PKD1;A3171P;814}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100453C>G" "" "likely pathogenic (dominant)" "" "0000672830" "0" "70" "16" "2150432" "2150432" "subst" "4.89832E-5" "00006" "PKD1_001690" "g.2150432C>A" "" "{PKDdb:PKD1;S3178I;2258}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100431C>A" "" "likely pathogenic (dominant)" "" "0000672831" "0" "30" "16" "2150431" "2150431" "subst" "2.4493E-5" "00006" "PKD1_001689" "g.2150431G>A" "" "{PKDdb:PKD1;9534C%3ET;742}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100430G>A" "" "likely benign" "" "0000672832" "0" "90" "16" "2150425" "2150425" "subst" "0" "00006" "PKD1_000111" "g.2150425C>T" "" "{PKDdb:PKD1;W3180X;2124}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100424C>T" "" "pathogenic (dominant)" "" "0000672833" "0" "70" "16" "2150422" "2150422" "subst" "0" "00006" "PKD1_001688" "g.2150422C>G" "" "{PKDdb:PKD1;K3181N;2523}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100421C>G" "" "likely pathogenic (dominant)" "" "0000672834" "0" "90" "16" "2150419" "2150419" "del" "0" "00006" "PKD1_001686" "g.2150419del" "" "{PKDdb:PKD1;9547delC;2449}" "" "9547delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100418del" "" "pathogenic (dominant)" "" "0000672835" "0" "90" "16" "2150418" "2150418" "subst" "0" "00006" "PKD1_001687" "g.2150418G>A" "" "{PKDdb:PKD1;R3183X;1843}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100417G>A" "" "pathogenic (dominant)" "" "0000672836" "0" "30" "16" "2150417" "2150417" "subst" "0.000301659" "00006" "PKD1_001685" "g.2150417C>T" "" "{PKDdb:PKD1;R3183Q;1842}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100416C>T" "" "likely benign" "" "0000672837" "0" "90" "16" "2150410" "2150410" "subst" "0" "00006" "PKD1_001684" "g.2150410C>T" "" "{PKDdb:PKD1;W3185X;2450}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100409C>T" "" "pathogenic (dominant)" "" "0000672838" "0" "70" "16" "2150409" "2150409" "subst" "0" "00006" "PKD1_000340" "g.2150409G>A" "" "{PKDdb:PKD1;H3186Y;1082}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100408G>A" "" "likely pathogenic (dominant)" "" "0000672839" "0" "70" "16" "2150407" "2150407" "subst" "0" "00006" "PKD1_001683" "g.2150407G>C" "" "{PKDdb:PKD1;H3186Q;1081}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100406G>C" "" "likely pathogenic (dominant)" "" "0000672840" "0" "50" "16" "2150404" "2150404" "subst" "0" "00006" "PKD1_001682" "g.2150404G>T" "" "{PKDdb:PKD1;D3187E;2259}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100403G>T" "" "VUS" "" "0000672841" "0" "50" "16" "2150403" "2150403" "subst" "0" "00006" "PKD1_001681" "g.2150403T>C" "" "{PKDdb:PKD1;N3188D;1570}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100402T>C" "" "VUS" "" "0000672842" "0" "70" "16" "2150403" "2150405" "del" "0" "00006" "PKD1_000229" "g.2150403_2150405del" "" "{PKDdb:PKD1;N3188del;1571}" "" "9562_9564delAAC" "highly likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100402_2100404del" "" "likely pathogenic (dominant)" "" "0000672843" "0" "70" "16" "2150402" "2150402" "subst" "0" "00006" "PKD1_001680" "g.2150402T>A" "" "{PKDdb:PKD1;N3188I;1572}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100401T>A" "" "likely pathogenic (dominant)" "" "0000672844" "0" "50" "16" "2150402" "2150402" "subst" "0" "00006" "PKD1_000440" "g.2150402T>C" "" "{PKDdb:PKD1;N3188S;1573}" "" "" "likely hypomorphic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100401T>C" "" "VUS (!)" "" "0000672845" "0" "70" "16" "2150403" "2150405" "del" "0" "00006" "PKD1_000229" "g.2150403_2150405del" "" "{PKDdb:PKD1;K3189del;1456}" "" "9564_9566delCAA" "highly likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100402_2100404del" "" "likely pathogenic (dominant)" "" "0000672846" "0" "90" "16" "2150396" "2150396" "subst" "0" "00006" "PKD1_000619" "g.2150396C>T" "" "{PKDdb:PKD1;IVS27~1G%3EA;1259}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100395C>T" "" "pathogenic (dominant)" "" "0000672847" "0" "30" "16" "2150323" "2150323" "subst" "0.0378739" "00006" "PKD1_001679" "g.2150323A>G" "" "{PKDdb:PKD1;IVS27-13T%3EC;1261}" "" "" "reported in 7 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100322A>G" "" "likely benign" "" "0000672848" "0" "30" "16" "2150321" "2150321" "subst" "0.000102211" "00006" "PKD1_001678" "g.2150321G>A" "" "{PKDdb:PKD1;IVS27-11C%3ET;1260}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100320G>A" "" "likely benign" "" "0000672849" "0" "90" "16" "2150312" "2150312" "subst" "0" "00006" "PKD1_001677" "g.2150312T>C" "" "{PKDdb:PKD1;IVS27-2A%3EG;1262}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100311T>C" "" "pathogenic (dominant)" "" "0000672850" "0" "30" "16" "2150306" "2150306" "subst" "0.000102198" "00006" "PKD1_001676" "g.2150306G>C" "" "{PKDdb:PKD1;9573C%3EG;743}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100305G>C" "" "likely benign" "" "0000672851" "0" "50" "16" "2150302" "2150302" "subst" "4.08714E-6" "00006" "PKD1_001674" "g.2150302G>C" "" "{PKDdb:PKD1;P3193A;1609}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100301G>C" "" "VUS" "" "0000672852" "0" "70" "16" "2150302" "2150302" "subst" "0" "00006" "PKD1_001675" "g.2150302G>A" "" "{PKDdb:PKD1;P3193S;2619}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100301G>A" "" "likely pathogenic (dominant)" "" "0000672853" "0" "70" "16" "2150301" "2150301" "subst" "0" "00006" "PKD1_001673" "g.2150301G>A" "" "{PKDdb:PKD1;P3193L;1610}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100300G>A" "" "likely pathogenic (dominant)" "" "0000672854" "0" "90" "16" "2150287" "2150287" "subst" "0" "00006" "PKD1_001672" "g.2150287G>A" "" "{PKDdb:PKD1;Q3198X;2451}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100286G>A" "" "pathogenic (dominant)" "" "0000672855" "0" "90" "16" "2150263" "2150263" "subst" "0" "00006" "PKD1_000073" "g.2150263G>A" "" "{PKDdb:PKD1;Q3206X;1696}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100262G>A" "" "pathogenic (dominant)" "" "0000672856" "0" "30" "16" "2150259" "2150259" "subst" "5.72977E-5" "00006" "PKD1_001671" "g.2150259G>A" "" "{PKDdb:PKD1;T3207M;2024}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100258G>A" "" "likely benign" "" "0000672857" "0" "30" "16" "2150254" "2150254" "subst" "0.000102382" "00006" "PKD1_001670" "g.2150254G>A" "" "{PKDdb:PKD1;R3209C;1844}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100253G>A" "" "likely benign" "" "0000672858" "0" "70" "16" "0" "0" "" "0" "00006" "PKD1_000000" "g.?" "" "{PKDdb:PKD1;EX28-EX32 Gene Conversion;976}" "" "gene conversion ex28-32" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000672859" "0" "30" "16" "2150253" "2150253" "subst" "1.22924E-5" "00006" "PKD1_001669" "g.2150253C>T" "" "{PKDdb:PKD1;R3209H;1845}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100252C>T" "" "likely benign" "" "0000672860" "0" "30" "16" "2150248" "2150248" "subst" "1.23023E-5" "00006" "PKD1_001668" "g.2150248C>T" "" "{PKDdb:PKD1;A3211T;818}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100247C>T" "" "likely benign" "" "0000672861" "0" "30" "16" "2150243" "2150243" "subst" "0.000106728" "00006" "PKD1_001667" "g.2150243G>A" "" "{PKDdb:PKD1;9636C%3ET;744}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100242G>A" "" "likely benign" "" "0000672862" "0" "90" "16" "2150243" "2150243" "del" "0" "00006" "PKD1_000173" "g.2150243del" "" "{PKDdb:PKD1;9636delC;745}" "" "9636delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100242del" "" "pathogenic (dominant)" "" "0000672863" "0" "30" "16" "2150240" "2150240" "subst" "0" "00006" "PKD1_001666" "g.2150240G>A" "" "{PKDdb:PKD1;9639C%3ET;746}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100239G>A" "" "likely benign" "" "0000672864" "0" "30" "16" "2150239" "2150239" "subst" "0.000217838" "00006" "PKD1_001665" "g.2150239G>A" "" "{PKDdb:PKD1;9640C%3ET;747}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100238G>A" "" "likely benign" "" "0000672865" "0" "70" "16" "2150232" "2150232" "subst" "0" "00006" "PKD1_001664" "g.2150232T>A" "" "{PKDdb:PKD1;N3216I;1574}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100231T>A" "" "likely pathogenic (dominant)" "" "0000672866" "0" "90" "16" "2150225" "2150225" "subst" "0" "00006" "PKD1_000339" "g.2150225C>T" "" "{PKDdb:PKD1;W3218X;2125}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100224C>T" "" "pathogenic (dominant)" "" "0000672867" "0" "90" "16" "2150223" "2150223" "del" "0" "00006" "PKD1_000072" "g.2150223del" "" "{PKDdb:PKD1;9658delT;748}" "" "9658delT" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100222del" "" "pathogenic (dominant)" "" "0000672868" "0" "30" "16" "2150210" "2150210" "subst" "0.00571282" "00006" "PKD1_001663" "g.2150210C>T" "" "{PKDdb:PKD1;9669G%3EA;749}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100209C>T" "" "likely benign" "" "0000672869" "0" "90" "16" "2150184" "2150210" "del" "0" "00006" "PKD1_000617" "g.2150184_2150210del" "" "{PKDdb:PKD1;A3225_E3233del9;819}" "" "9674_9700delCCAACGGG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100183_2100209del" "" "pathogenic (dominant)" "" "0000672870" "0" "90" "16" "2150200" "2150200" "del" "0" "00006" "PKD1_001662" "g.2150200del" "" "{PKDdb:PKD1;9683delG;750}" "" "9683delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100199del" "" "pathogenic (dominant)" "" "0000672871" "0" "70" "16" "2150185" "2150187" "del" "0" "00006" "PKD1_000277" "g.2150185_2150187del" "" "{PKDdb:PKD1;K3232del;1457}" "" "9694_9696delAAG" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100184_2100186del" "" "likely pathogenic (dominant)" "" "0000672872" "0" "50" "16" "2150185" "2150185" "subst" "0" "00006" "PKD1_001661" "g.2150185T>C" "" "{PKDdb:PKD1;K3232E;2260}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100184T>C" "" "VUS" "" "0000672873" "0" "70" "16" "2150181" "2150181" "subst" "0" "00006" "PKD1_001660" "g.2150181T>A" "" "{PKDdb:PKD1;E3233V;2261}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100180T>A" "" "likely pathogenic (dominant)" "" "0000672874" "0" "90" "16" "2150166" "2150166" "subst" "0" "00006" "PKD1_001659" "g.2150166C>A" "" "{PKDdb:PKD1;IVS28~1G%3ET;2262}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100165C>A" "" "pathogenic (dominant)" "" "0000672875" "0" "30" "16" "2150137" "2150137" "subst" "0" "00006" "PKD1_001658" "g.2150137A>C" "" "{PKDdb:PKD1;IVS28~30T%3EG;1264}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100136A>C" "" "likely benign" "" "0000672876" "0" "30" "16" "2150094" "2150094" "subst" "0" "00006" "PKD1_001657" "g.2150094A>C" "" "{PKDdb:PKD1;IVS28-22T%3EG;1267}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100093A>C" "" "likely benign" "" "0000672877" "0" "30" "16" "2150093" "2150093" "subst" "0.000669629" "00006" "PKD1_001656" "g.2150093C>T" "" "{PKDdb:PKD1;IVS28-21G%3EA;1266}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100092C>T" "" "likely benign" "" "0000672878" "0" "30" "16" "2150092" "2150092" "subst" "0.000736565" "00006" "PKD1_001655" "g.2150092G>A" "" "{PKDdb:PKD1;IVS28-20C%3ET;1265}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100091G>A" "" "likely benign" "" "0000672879" "0" "30" "16" "2150089" "2150089" "subst" "7.24874E-5" "00006" "PKD1_001654" "g.2150089G>C" "" "{PKDdb:PKD1;IVS28-17C%3EG;2316}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100088G>C" "" "likely benign" "" "0000672880" "0" "30" "16" "2150071" "2150071" "subst" "2.22709E-5" "00006" "PKD1_001653" "g.2150071G>A" "" "{PKDdb:PKD1;9714C%3ET;2593}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100070G>A" "" "likely benign" "" "0000672881" "0" "30" "16" "2150067" "2150067" "subst" "0.000392674" "00006" "PKD1_001652" "g.2150067C>T" "" "{PKDdb:PKD1;A3240T;2263}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100066C>T" "" "likely benign" "" "0000672882" "0" "30" "16" "2150059" "2150059" "subst" "0" "00006" "PKD1_001651" "g.2150059A>C" "" "{PKDdb:PKD1;9726T%3EG;2295}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100058A>C" "" "likely benign" "" "0000672883" "0" "30" "16" "2150054" "2150054" "subst" "0" "00006" "PKD1_001649" "g.2150054C>T" "" "{PKDdb:PKD1;R3244H;1850}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100053C>T" "" "likely benign" "" "0000672884" "0" "50" "16" "2150055" "2150055" "subst" "0" "00006" "PKD1_001650" "g.2150055G>A" "" "{PKDdb:PKD1;R3244C;1849}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100054G>A" "" "VUS" "" "0000672885" "0" "30" "16" "2150045" "2150045" "subst" "3.64937E-5" "00006" "PKD1_000151" "g.2150045C>T" "" "{PKDdb:PKD1;R3247H;1851}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2100044C>T" "" "likely benign" "" "0000672886" "0" "30" "16" "2150020" "2150020" "subst" "0" "00006" "PKD1_001648" "g.2150020A>G" "" "{PKDdb:PKD1;9765T%3EC;2296}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2100019A>G" "" "likely benign" "" "0000672887" "0" "70" "16" "2149998" "2149998" "subst" "0" "00006" "PKD1_001647" "g.2149998A>G" "" "{PKDdb:PKD1;W3263R;2264}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099997A>G" "" "likely pathogenic (dominant)" "" "0000672888" "0" "70" "16" "2149996" "2149996" "subst" "0" "00006" "PKD1_001646" "g.2149996C>A" "" "{PKDdb:PKD1;W3263C;2126}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099995C>A" "" "likely pathogenic (dominant)" "" "0000672889" "0" "30" "16" "2149993" "2149993" "subst" "0" "00006" "PKD1_001645" "g.2149993G>A" "" "{PKDdb:PKD1;9792C%3ET;752}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099992G>A" "" "likely benign" "" "0000672890" "0" "70" "16" "2149991" "2149991" "subst" "0" "00006" "PKD1_001644" "g.2149991G>A" "" "{PKDdb:PKD1;S3265F;1956}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099990G>A" "" "likely pathogenic (dominant)" "" "0000672891" "0" "30" "16" "2149990" "2149990" "subst" "0.0016124" "00006" "PKD1_001643" "g.2149990G>A" "" "{PKDdb:PKD1;9795C%3ET;753}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099989G>A" "" "likely benign" "" "0000672892" "0" "90" "16" "2149984" "2149984" "subst" "0" "00006" "PKD1_001642" "g.2149984C>T" "" "{PKDdb:PKD1;W3267X;2127}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099983C>T" "" "pathogenic (dominant)" "" "0000672893" "0" "90" "16" "2149968" "2149968" "del" "0" "00006" "PKD1_001641" "g.2149968del" "" "{PKDdb:PKD1;9817delA;754}" "" "9817delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099967del" "" "pathogenic (dominant)" "" "0000672894" "0" "50" "16" "2149956" "2149956" "subst" "0.000155417" "00006" "PKD1_000439" "g.2149956G>A" "" "{PKDdb:PKD1;R3277C;1856}" "" "" "likely hypomorphic in ADPKDdb; reported in 8 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099955G>A" "" "VUS (!)" "" "0000672895" "0" "90" "16" "2149942" "2149945" "dup" "0" "00006" "PKD1_001640" "g.2149942_2149945dup" "" "{PKDdb:PKD1;9843_9844ins4;755}" "" "9843_9844insGGCC (Ala3281fs32X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099941_2099944dup" "" "pathogenic (dominant)" "" "0000672896" "0" "30" "16" "2149932" "2149932" "subst" "1.89258E-5" "00006" "PKD1_000153" "g.2149932C>T" "" "{PKDdb:PKD1;V3285I;2074}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099931C>T" "" "likely benign" "" "0000672897" "0" "70" "16" "2149927" "2149929" "del" "0" "00006" "PKD1_000246" "g.2149927_2149929del" "" "{PKDdb:PKD1;L3287del;1498}" "" "9859_9861delCTC" "highly likely pathogenic in ADPKDdb; reported in 5 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099926_2099928del" "" "likely pathogenic (dominant)" "" "0000672898" "0" "50" "16" "2149901" "2149901" "subst" "4.39522E-5" "00006" "PKD1_001116" "g.2149901T>C" "" "{PKDdb:PKD1;N3295S;1576}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099900T>C" "" "VUS" "" "0000672899" "0" "70" "16" "2149900" "2149900" "subst" "0" "00006" "PKD1_000276" "g.2149900G>T" "" "{PKDdb:PKD1;N3295K;1575}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099899G>T" "" "likely pathogenic (dominant)" "" "0000672900" "0" "30" "16" "2149897" "2149897" "subst" "1.8959E-5" "00006" "PKD1_001639" "g.2149897G>A" "" "{PKDdb:PKD1;9888C%3ET;756}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099896G>A" "" "likely benign" "" "0000672901" "0" "90" "16" "2149891" "2149891" "subst" "0" "00006" "PKD1_001638" "g.2149891C>T" "" "{PKDdb:PKD1;W3298X;2265}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099890C>T" "" "pathogenic (dominant)" "" "0000672902" "0" "70" "16" "2149887" "2149887" "subst" "0.000138059" "00006" "PKD1_001637" "g.2149887C>T" "" "{PKDdb:PKD1;G3300R;2620}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099886C>T" "" "likely pathogenic (dominant)" "" "0000672903" "0" "30" "16" "2149827" "2149827" "subst" "0.000216575" "00006" "PKD1_001636" "g.2149827C>A" "" "{PKDdb:PKD1;IVS29~35G%3ET;1268}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099826C>A" "" "likely benign" "" "0000672904" "0" "30" "16" "2149790" "2149790" "subst" "6.92444E-6" "00006" "PKD1_001635" "g.2149790G>A" "" "{PKDdb:PKD1;IVS29-19C%3ET;1270}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099789G>A" "" "likely benign" "" "0000672905" "0" "30" "16" "2149782" "2149782" "subst" "0.00112733" "00006" "PKD1_001634" "g.2149782G>A" "" "{PKDdb:PKD1;IVS29-11C%3ET;1269}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099781G>A" "" "likely benign" "" "0000672906" "0" "30" "16" "2149782" "2149784" "del" "0" "00006" "PKD1_001633" "g.2149782_2149784del" "" "{PKDdb:PKD1;IVS29-9_-7delTCC;1274}" "" "9924-9_-7delTCC" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099781_2099783del" "" "likely benign" "" "0000672907" "0" "70" "16" "2149774" "2149774" "subst" "0" "00006" "PKD1_001632" "g.2149774G>C" "" "{PKDdb:PKD1;IVS29-3C%3EG;2554}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099773G>C" "" "likely pathogenic (dominant)" "" "0000672908" "0" "90" "16" "2149773" "2149773" "subst" "0" "00006" "PKD1_001631" "g.2149773T>A" "" "{PKDdb:PKD1;IVS29-2A%3ET;1273}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099772T>A" "" "pathogenic (dominant)" "" "0000672909" "0" "90" "16" "2149772" "2149772" "subst" "0" "00006" "PKD1_001629" "g.2149772C>G" "" "{PKDdb:PKD1;IVS29-1G %3EC;1271}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099771C>G" "" "pathogenic (dominant)" "" "0000672910" "0" "90" "16" "2149772" "2149772" "subst" "0" "00006" "PKD1_001630" "g.2149772C>T" "" "{PKDdb:PKD1;IVS29-1G%3EA;1272}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099771C>T" "" "pathogenic (dominant)" "" "0000672911" "0" "70" "16" "2149769" "2149769" "subst" "4.22744E-5" "00006" "PKD1_001628" "g.2149769G>A" "" "{PKDdb:PKD1;T3309M;2025}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099768G>A" "" "likely pathogenic (dominant)" "" "0000672912" "0" "30" "16" "2149763" "2149763" "subst" "1.42003E-5" "00006" "PKD1_000543" "g.2149763T>C" "" "{PKDdb:PKD1;H3311R;1084}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099762T>C" "" "likely benign" "" "0000672913" "0" "30" "16" "2149738" "2149738" "subst" "0.00341381" "00006" "PKD1_000771" "g.2149738G>A" "" "{PKDdb:PKD1;9957C%3ET;760}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099737G>A" "" "likely benign" "" "0000672914" "0" "90" "16" "2149738" "2149739" "del" "0" "00006" "PKD1_001627" "g.2149738_2149739del" "" "{PKDdb:PKD1;9957_9958delCG;759}" "" "9957_9958delCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099737_2099738del" "" "pathogenic (dominant)" "" "0000672915" "0" "70" "16" "2149719" "2149719" "subst" "0" "00006" "PKD1_000275" "g.2149719C>G" "" "{PKDdb:PKD1;G3326R;1044}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099718C>G" "" "likely pathogenic (dominant)" "" "0000672916" "0" "90" "16" "2149710" "2149717" "del" "0" "00006" "PKD1_001626" "g.2149710_2149717del" "" "{PKDdb:PKD1;9978_9985del8ins3;762}" "" "9978_9985delCCTGGTGT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099709_2099716del" "" "pathogenic (dominant)" "" "0000672917" "0" "30" "16" "2149706" "2149706" "subst" "0" "00006" "PKD1_001625" "g.2149706C>G" "" "{PKDdb:PKD1;S3330T;1958}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099705C>G" "" "likely benign" "" "0000672918" "0" "30" "16" "2149672" "2149672" "subst" "7.52249E-5" "00006" "PKD1_001624" "g.2149672A>G" "" "{PKDdb:PKD1;10023T%3EC;8}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099671A>G" "" "likely benign" "" "0000672919" "0" "90" "16" "2149673" "2149673" "del" "0" "00006" "PKD1_001623" "g.2149673del" "" "{PKDdb:PKD1;10026delT;9}" "" "10026delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099672del" "" "pathogenic (dominant)" "" "0000672920" "0" "90" "16" "2149667" "2149667" "del" "0" "00006" "PKD1_000274" "g.2149667del" "" "{PKDdb:PKD1;10028delT;10}" "" "10028delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099666del" "" "pathogenic (dominant)" "" "0000672921" "0" "90" "16" "2149666" "2149666" "del" "0" "00006" "PKD1_001622" "g.2149666del" "" "{PKDdb:PKD1;10029delC;11}" "" "10029delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099665del" "" "pathogenic (dominant)" "" "0000672922" "0" "30" "16" "2149651" "2149651" "subst" "0" "00006" "PKD1_001621" "g.2149651C>A" "" "{PKDdb:PKD1;10044G%3ET;13}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099650C>A" "" "likely benign" "" "0000672923" "0" "70" "16" "2149652" "2149652" "subst" "0.000318695" "00006" "PKD1_000612" "g.2149652C>T" "" "{PKDdb:PKD1;R3348Q;1858}" "" "10044G>A" "lvariant description not correct; likely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099651C>T" "" "likely pathogenic (dominant)" "" "0000672924" "0" "90" "16" "2149644" "2149644" "subst" "0" "00006" "PKD1_001620" "g.2149644C>T" "" "{PKDdb:PKD1;IVS30~1G%3EA;1278}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099643C>T" "" "pathogenic (dominant)" "" "0000672925" "0" "30" "16" "2149591" "2149591" "subst" "0" "00006" "PKD1_001618" "g.2149591T>G" "" "{PKDdb:PKD1;IVS30~54A%3EC;1280}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099590T>G" "" "likely benign" "" "0000672926" "0" "30" "16" "2149591" "2149591" "subst" "0" "00006" "PKD1_001619" "g.2149591T>C" "" "{PKDdb:PKD1;IVS30~54A%3EG;1281}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2099590T>C" "" "likely benign" "" "0000672927" "0" "30" "16" "2149583" "2149583" "subst" "0" "00006" "PKD1_001617" "g.2149583A>G" "" "{PKDdb:PKD1;IVS30~62T%3EC;1282}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099582A>G" "" "likely benign" "" "0000672928" "0" "30" "16" "2149580" "2149580" "subst" "0" "00006" "PKD1_001616" "g.2149580C>T" "" "{PKDdb:PKD1;IVS30~65G%3EA;1283}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2099579C>T" "" "likely benign" "" "0000672929" "0" "90" "16" "2147148" "2147986" "del" "0" "00006" "PKD1_000002" "g.(2144212_2147148)_(2147986_2149644)del" "" "{PKDdb:PKD1;IVS30-IVS34del2kb*;1285}" "" "IVS30-IVS34del 2kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(2094211_2097147)_(2097985_2099643)del" "" "pathogenic (dominant)" "" "0000672930" "0" "30" "16" "2148010" "2148010" "subst" "0.014614" "00006" "PKD1_001614" "g.2148010C>T" "" "{PKDdb:PKD1;IVS30-25G%3EA;1284}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2098009C>T" "" "likely benign" "" "0000672931" "0" "30" "16" "2147997" "2147997" "subst" "0" "00006" "PKD1_001613" "g.2147997G>C" "" "{PKDdb:PKD1;IVS30-12C%3EG;2595}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097996G>C" "" "likely benign" "" "0000672932" "0" "50" "16" "2147972" "2147972" "subst" "4.43227E-6" "00006" "PKD1_000228" "g.2147972G>A" "" "{PKDdb:PKD1;P3355L;1611}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097971G>A" "" "VUS" "" "0000672933" "0" "90" "16" "2147961" "2147961" "del" "0" "00006" "PKD1_001612" "g.2147961del" "" "{PKDdb:PKD1;10076delC;14}" "" "10076delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097960del" "" "pathogenic (dominant)" "" "0000672934" "0" "90" "16" "2147952" "2147952" "subst" "0" "00006" "PKD1_001611" "g.2147952G>A" "" "{PKDdb:PKD1;Q3362X;2452}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097951G>A" "" "pathogenic (dominant)" "" "0000672935" "0" "90" "16" "2147949" "2147949" "subst" "0" "00006" "PKD1_001610" "g.2147949G>A" "" "{PKDdb:PKD1;Q3363X;1697}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097948G>A" "" "pathogenic (dominant)" "" "0000672936" "0" "30" "16" "2147937" "2147937" "subst" "9.14788E-5" "00006" "PKD1_001609" "g.2147937T>C" "" "{PKDdb:PKD1;I3367V;1101}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097936T>C" "" "likely benign" "" "0000672937" "0" "70" "16" "2147934" "2147934" "subst" "0.000249234" "00006" "PKD1_000263" "g.2147934C>T" "" "{PKDdb:PKD1;D3368N;892}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097933C>T" "" "likely pathogenic (dominant)" "" "0000672938" "0" "30" "16" "2147922" "2147922" "subst" "0" "00006" "PKD1_001608" "g.2147922C>T" "" "{PKDdb:PKD1;10114G%3EA;16}" "" "Asp3372Asp" "variant description not correct; reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097921C>T" "" "likely benign" "" "0000672939" "0" "30" "16" "2147913" "2147913" "subst" "7.76083E-5" "00006" "PKD1_000045" "g.2147913C>T" "" "{PKDdb:PKD1;V3375M;2075}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097912C>T" "" "likely benign" "" "0000672940" "0" "50" "16" "2147891" "2147891" "subst" "2.88322E-5" "00006" "PKD1_000149" "g.2147891G>A" "" "{PKDdb:PKD1;T3382M;2026}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097890G>A" "" "VUS" "" "0000672941" "0" "90" "16" "2147885" "2147885" "subst" "4.10647E-6" "00006" "PKD1_000253" "g.2147885G>C" "" "{PKDdb:PKD1;S3384X;1959}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097884G>C" "" "pathogenic (dominant)" "" "0000672942" "0" "30" "16" "2147877" "2147877" "subst" "0" "00006" "PKD1_001607" "g.2147877G>C" "" "{PKDdb:PKD1;10159C%3EG;17}" "" "His3387His" "variant description not correct; reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097876G>C" "" "likely benign" "" "0000672943" "0" "30" "16" "2147873" "2147873" "subst" "0" "00006" "PKD1_001606" "g.2147873G>A" "" "{PKDdb:PKD1;10163C%3ET;18}" "" "Ala3388Ala" "variant description not correct; reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097872G>A" "" "likely benign" "" "0000672944" "0" "90" "16" "2147867" "2147868" "del" "0" "00006" "PKD1_001605" "g.2147867_2147868del" "" "{PKDdb:PKD1;IVS31~2_~3delTG;1287}" "" "10167+2_+3delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097866_2097867del" "" "pathogenic (dominant)" "" "0000672945" "0" "30" "16" "2147862" "2147862" "subst" "3.26286E-5" "00006" "PKD1_001604" "g.2147862T>C" "" "{PKDdb:PKD1;IVS31~7A%3EG;2596}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097861T>C" "" "likely benign" "" "0000672946" "0" "30" "16" "2147855" "2147855" "subst" "6.1183E-5" "00006" "PKD1_001603" "g.2147855A>G" "" "{PKDdb:PKD1;IVS31~14T%3EC;1286}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097854A>G" "" "likely benign" "" "0000672947" "0" "70" "16" "2147838" "2147856" "del" "0" "00006" "PKD1_000551" "g.2147838_2147856del" "" "{PKDdb:PKD1;IVS31~25_~43del19;2656}" "" "10167+25_+43delGGCTG..." "highly likely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097837_2097855del" "" "likely pathogenic (dominant)" "" "0000672948" "0" "30" "16" "2147832" "2147832" "subst" "0" "00006" "PKD1_001602" "g.2147832C>A" "" "{PKDdb:PKD1;IVS31~37G%3ET;1289}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097831C>A" "" "likely benign" "" "0000672949" "0" "30" "16" "2147826" "2147826" "subst" "0" "00006" "PKD1_001601" "g.2147826C>T" "" "{PKDdb:PKD1;IVS31~43G%3EA;1290}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097825C>T" "" "likely benign" "" "0000672950" "0" "30" "16" "2147824" "2147824" "subst" "3.26211E-5" "00006" "PKD1_001600" "g.2147824G>A" "" "{PKDdb:PKD1;IVS31~45C%3ET;1291}" "" "" "reported in 1 paper\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2097823G>A" "" "likely benign" "" "0000672951" "0" "30" "16" "2147789" "2147789" "subst" "0.000199455" "00006" "PKD1_001032" "g.2147789G>A" "" "{PKDdb:PKD1;IVS31-8C%3ET;2597}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097788G>A" "" "likely benign" "" "0000672952" "0" "90" "16" "2147785" "2147791" "del" "0" "00006" "PKD1_001599" "g.2147785_2147791del" "" "{PKDdb:PKD1;IVS31-8_-2del7;1292}" "" "10168-8_-2delCCTCTCA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097784_2097790del" "" "pathogenic (dominant)" "" "0000672953" "0" "90" "16" "2147781" "2147781" "subst" "0" "00006" "PKD1_001598" "g.2147781G>A" "" "{PKDdb:PKD1;Q3390X;2453}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097780G>A" "" "pathogenic (dominant)" "" "0000672954" "0" "30" "16" "2147776" "2147776" "subst" "8.14147E-6" "00006" "PKD1_001597" "g.2147776G>A" "" "{PKDdb:PKD1;A3391V;820}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097775G>A" "" "likely benign" "" "0000672955" "0" "90" "16" "2147771" "2147771" "dup" "0" "00006" "PKD1_001596" "g.2147771dup" "" "{PKDdb:PKD1;10179_10180insT;2571}" "" "10179_10180insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097770dup" "" "pathogenic (dominant)" "" "0000672956" "0" "90" "16" "2147766" "2147766" "subst" "4.0705E-6" "00006" "PKD1_000110" "g.2147766G>A" "" "{PKDdb:PKD1;Q3395X;1698}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097765G>A" "" "pathogenic (dominant)" "" "0000672957" "0" "90" "16" "2147709" "2147733" "del" "0" "00006" "PKD1_001593" "g.2147709_2147733del" "" "{PKDdb:PKD1;10216_IVS32~20del25;2266}" "" "10216_10220+20del25" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097708_2097732del" "" "pathogenic (dominant)" "" "0000672958" "0" "90" "16" "2147728" "2147728" "subst" "0" "00006" "PKD1_001595" "g.2147728C>A" "" "{PKDdb:PKD1;IVS32~1G%3ET;1293}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097727C>A" "" "pathogenic (dominant)" "" "0000672959" "0" "50" "16" "2147723" "2147723" "subst" "0" "00006" "PKD1_001594" "g.2147723A>T" "" "{PKDdb:PKD1;IVS32~6T%3EA;1296}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097722A>T" "" "VUS" "" "0000672960" "0" "30" "16" "2147696" "2147696" "subst" "0.000440849" "00006" "PKD1_001592" "g.2147696C>T" "" "{PKDdb:PKD1;IVS32~33G%3EA;1294}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097695C>T" "" "likely benign" "" "0000672961" "0" "30" "16" "2147693" "2147693" "subst" "8.16147E-6" "00006" "PKD1_001591" "g.2147693C>G" "" "{PKDdb:PKD1;IVS32~36G%3EC;1295}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097692C>G" "" "likely benign" "" "0000672962" "0" "30" "16" "2147518" "2147518" "subst" "0.000302415" "00006" "PKD1_001590" "g.2147518G>A" "" "{PKDdb:PKD1;IVS32-14C%3ET;1297}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097517G>A" "" "likely benign" "" "0000672963" "0" "30" "16" "2147500" "2147500" "subst" "0.0104089" "00006" "PKD1_000819" "g.2147500C>G" "" "{PKDdb:PKD1;V3409L;2076}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097499C>G" "" "likely benign" "" "0000672964" "0" "70" "16" "2147492" "2147492" "subst" "8.5533E-6" "00006" "PKD1_001589" "g.2147492C>A" "" "{PKDdb:PKD1;W3411C;2128}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097491C>A" "" "likely pathogenic (dominant)" "" "0000672965" "0" "30" "16" "2147491" "2147491" "subst" "0.000777107" "00006" "PKD1_001031" "g.2147491G>A" "" "{PKDdb:PKD1;P3412S;1612}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097490G>A" "" "likely benign" "" "0000672966" "0" "30" "16" "2147485" "2147485" "subst" "0.000391966" "00006" "PKD1_001588" "g.2147485C>T" "" "{PKDdb:PKD1;G3414S;1045}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097484C>T" "" "likely benign" "" "0000672967" "0" "70" "16" "2147482" "2147482" "subst" "2.5531E-5" "00006" "PKD1_001587" "g.2147482C>T" "" "{PKDdb:PKD1;E3415K;2267}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097481C>T" "" "likely pathogenic (dominant)" "" "0000672968" "0" "30" "16" "2147474" "2147474" "subst" "8.05535E-5" "00006" "PKD1_001586" "g.2147474C>T" "" "{PKDdb:PKD1;10251G%3EA;21}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097473C>T" "" "likely benign" "" "0000672969" "0" "90" "16" "2147472" "2147472" "dup" "0" "00006" "PKD1_001585" "g.2147472dup" "" "{PKDdb:PKD1;10253_10254insT;22}" "" "10253_10254insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097471dup" "" "pathogenic (dominant)" "" "0000672970" "0" "90" "16" "2147465" "2147465" "subst" "0" "00006" "PKD1_000337" "g.2147465C>T" "" "{PKDdb:PKD1;W3420X;2129}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097464C>T" "" "pathogenic (dominant)" "" "0000672971" "0" "30" "16" "2147435" "2147435" "subst" "0" "00006" "PKD1_001584" "g.2147435C>T" "" "{PKDdb:PKD1;10290G%3EA;23}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097434C>T" "" "likely benign" "" "0000672972" "0" "30" "16" "2147425" "2147425" "subst" "4.16396E-6" "00006" "PKD1_001583" "g.2147425G>A" "" "{PKDdb:PKD1;10300C%3ET;24}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097424G>A" "" "likely benign" "" "0000672973" "0" "30" "16" "2147421" "2147421" "subst" "0.00245984" "00006" "PKD1_001030" "g.2147421C>T" "" "{PKDdb:PKD1;R3435Q;1859}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097420C>T" "" "likely benign" "" "0000672974" "0" "30" "16" "2147400" "2147400" "subst" "0.000357104" "00006" "PKD1_001582" "g.2147400G>A" "" "{PKDdb:PKD1;A3442V;821}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097399G>A" "" "likely benign" "" "0000672975" "0" "30" "16" "2147399" "2147399" "subst" "0.00040264" "00006" "PKD1_001581" "g.2147399C>T" "" "{PKDdb:PKD1;10326G%3EA;25}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097398C>T" "" "likely benign" "" "0000672976" "0" "90" "16" "2147392" "2147392" "del" "0" "00006" "PKD1_001580" "g.2147392del" "" "{PKDdb:PKD1;10335delG;2454}" "" "10335delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097391del" "" "pathogenic (dominant)" "" "0000672977" "0" "90" "16" "2147388" "2147408" "dup" "0" "00006" "PKD1_001579" "g.2147388_2147408dup" "" "{PKDdb:PKD1;10337_10338ins22;26}" "" "10337_10338insGGGCCAGGCGGGCCATGGGCT (Leu3446fs)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097387_2097407dup" "" "pathogenic (dominant)" "" "0000672978" "0" "90" "16" "2147384" "2147384" "del" "0" "00006" "PKD1_001578" "g.2147384del" "" "{PKDdb:PKD1;10343delC;2455}" "" "10343delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097383del" "" "pathogenic (dominant)" "" "0000672979" "0" "90" "16" "2147276" "2147390" "del" "0" "00006" "PKD1_001565" "g.2147276_2147390del" "" "{PKDdb:PKD1;10345_IVS33-24del115;2456}" "" "10345_10406-24del115" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097275_2097389del" "" "pathogenic (dominant)" "" "0000672980" "0" "30" "16" "2147371" "2147371" "subst" "3.71085E-5" "00006" "PKD1_001577" "g.2147371C>T" "" "{PKDdb:PKD1;G3452S;1046}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097370C>T" "" "likely benign" "" "0000672981" "0" "30" "16" "2147362" "2147362" "subst" "0.000288408" "00006" "PKD1_001576" "g.2147362G>A" "" "{PKDdb:PKD1;10363C%3ET;27}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097361G>A" "" "likely benign" "" "0000672982" "0" "30" "16" "2147357" "2147357" "subst" "0.00743297" "00006" "PKD1_001575" "g.2147357G>A" "" "{PKDdb:PKD1;10368C%3ET;28}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097356G>A" "" "likely benign" "" "0000672983" "0" "90" "16" "2147354" "2147354" "dup" "0" "00006" "PKD1_001574" "g.2147354dup" "" "{PKDdb:PKD1;10374_10375insC;2572}" "" "10374_10375insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097353dup" "" "pathogenic (dominant)" "" "0000672984" "0" "90" "16" "2147348" "2147348" "subst" "0" "00006" "PKD1_001573" "g.2147348G>C" "" "{PKDdb:PKD1;Y3459X;2179}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097347G>C" "" "pathogenic (dominant)" "" "0000672985" "0" "30" "16" "2147345" "2147345" "subst" "1.23222E-5" "00006" "PKD1_001572" "g.2147345C>A" "" "{PKDdb:PKD1;10380G%3ET;29}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097344C>A" "" "likely benign" "" "0000672986" "0" "70" "16" "2147338" "2147338" "subst" "8.20688E-5" "00006" "PKD1_001571" "g.2147338T>C" "" "{PKDdb:PKD1;K3463E;1458}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097337T>C" "" "likely pathogenic (dominant)" "" "0000672987" "0" "30" "16" "2147325" "2147325" "subst" "0.000361135" "00006" "PKD1_000818" "g.2147325G>A" "" "{PKDdb:PKD1;A3467V;822}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097324G>A" "" "likely benign" "" "0000672988" "0" "90" "16" "2147322" "2147322" "subst" "0" "00006" "PKD1_000336" "g.2147322G>C" "" "{PKDdb:PKD1;S3468X;1960}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097321G>C" "" "pathogenic (dominant)" "" "0000672989" "0" "70" "16" "2147320" "2147320" "subst" "4.10759E-6" "00006" "PKD1_001569" "g.2147320C>T" "" "{PKDdb:PKD1;D3469N;893}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097319C>T" "" "likely pathogenic (dominant)" "" "0000672990" "0" "70" "16" "2147320" "2147320" "subst" "0" "00006" "PKD1_001570" "g.2147320C>A" "" "{PKDdb:PKD1;D3469Y;894}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097319C>A" "" "likely pathogenic (dominant)" "" "0000672991" "0" "90" "16" "2147319" "2147319" "subst" "0" "00006" "PKD1_001568" "g.2147319C>A" "" "{PKDdb:PKD1;IVS33~1G%3ET;2457}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097318C>A" "" "pathogenic (dominant)" "" "0000672992" "0" "70" "16" "2147315" "2147315" "subst" "0" "00006" "PKD1_001567" "g.2147315C>A" "" "{PKDdb:PKD1;IVS33~5G%3ET;1300}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097314C>A" "" "likely pathogenic (dominant)" "" "0000672993" "0" "30" "16" "2147298" "2147298" "subst" "2.90021E-5" "00006" "PKD1_001566" "g.2147298C>T" "" "{PKDdb:PKD1;IVS33~22G%3EA;1299}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097297C>T" "" "likely benign" "" "0000672994" "0" "30" "16" "2147246" "2147246" "subst" "0.000434535" "00006" "PKD1_001564" "g.2147246G>A" "" "{PKDdb:PKD1;IVS33-4C%3ET;1302}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097245G>A" "" "likely benign" "" "0000672995" "0" "90" "16" "2147243" "2147243" "subst" "0" "00006" "PKD1_001563" "g.2147243C>G" "" "{PKDdb:PKD1;IVS33-1G%3EC;1301}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097242C>G" "" "pathogenic (dominant)" "" "0000672996" "0" "90" "16" "2147239" "2147240" "ins" "0" "00006" "PKD1_001562" "g.2147239_2147240insA" "" "{PKDdb:PKD1;10408_10409insT;30}" "" "10408_10409insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097238_2097239insA" "" "pathogenic (dominant)" "" "0000672997" "0" "90" "16" "2147228" "2147228" "subst" "0" "00006" "PKD1_000189" "g.2147228G>A" "" "{PKDdb:PKD1;Q3474X;1699}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097227G>A" "" "pathogenic (dominant)" "" "0000672998" "0" "90" "16" "2147225" "2147225" "subst" "0" "00006" "PKD1_000092" "g.2147225G>A" "" "{PKDdb:PKD1;Q3475X;1700}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2097224G>A" "" "pathogenic (dominant)" "" "0000672999" "0" "90" "16" "2147206" "2147228" "del" "0" "00006" "PKD1_001556" "g.2147206_2147228del" "" "{PKDdb:PKD1;10426_10448del23;31}" "" "10426_10448delGTCCTT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097205_2097227del" "" "pathogenic (dominant)" "" "0000673000" "0" "30" "16" "2147217" "2147217" "subst" "0" "00006" "PKD1_001561" "g.2147217A>G" "" "{PKDdb:PKD1;10431C%3ET;32}" "" "10431C>T" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097216A>G" "" "likely benign" "" "0000673001" "0" "30" "16" "2147214" "2147214" "subst" "0.000229371" "00006" "PKD1_001560" "g.2147214G>A" "" "{PKDdb:PKD1;10434C%3ET;33}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097213G>A" "" "likely benign" "" "0000673002" "0" "30" "16" "2147211" "2147211" "subst" "4.53248E-5" "00006" "PKD1_001559" "g.2147211C>G" "" "{PKDdb:PKD1;E3479D;945}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097210C>G" "" "likely benign" "" "0000673003" "0" "90" "16" "2147211" "2147211" "dup" "0" "00006" "PKD1_001557" "g.2147211dup" "" "{PKDdb:PKD1;10441_10442insG;2574}" "" "10441_10442insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097210dup" "" "pathogenic (dominant)" "" "0000673004" "0" "90" "16" "2147210" "2147211" "dup" "0" "00006" "PKD1_001558" "g.2147210_2147211dup" "" "{PKDdb:PKD1;10441_10442insGG;2573}" "" "10441_10442insGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097209_2097210dup" "" "pathogenic (dominant)" "" "0000673005" "0" "30" "16" "2147199" "2147199" "subst" "8.86116E-5" "00006" "PKD1_001555" "g.2147199G>A" "" "{PKDdb:PKD1;10449C%3ET;34}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097198G>A" "" "likely benign" "" "0000673006" "0" "90" "16" "2147186" "2147186" "subst" "0" "00006" "PKD1_000458" "g.2147186G>A" "" "{PKDdb:PKD1;Q3488X;1701}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097185G>A" "" "pathogenic (dominant)" "" "0000673007" "0" "90" "16" "2147184" "2147185" "ins" "0" "00006" "PKD1_001554" "g.2147184_2147185insG" "" "{PKDdb:PKD1;10462_10463insC;35}" "" "10463_10464insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097183_2097184insG" "" "pathogenic (dominant)" "" "0000673008" "0" "90" "16" "2147185" "2147185" "del" "0" "00006" "PKD1_001553" "g.2147185del" "" "{PKDdb:PKD1;10464delA;36}" "" "10464delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097184del" "" "pathogenic (dominant)" "" "0000673009" "0" "30" "16" "2147163" "2147163" "subst" "6.57661E-6" "00006" "PKD1_001552" "g.2147163G>T" "" "{PKDdb:PKD1;D3495E;895}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097162G>T" "" "likely benign" "" "0000673010" "0" "30" "16" "2147131" "2147131" "subst" "6.12628E-5" "00006" "PKD1_001551" "g.2147131C>T" "" "{PKDdb:PKD1;IVS34~18G%3EA;1303}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097130C>T" "" "likely benign" "" "0000673011" "0" "30" "16" "2147129" "2147129" "subst" "6.81608E-6" "00006" "PKD1_001550" "g.2147129C>T" "" "{PKDdb:PKD1;IVS34~20G%3EA;1304}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2097128C>T" "" "likely benign" "" "0000673012" "0" "90" "16" "2138711" "2144212" "del" "0" "00006" "PKD1_001193" "g.(?_2138711)_(2144212_2147148)del" "" "{PKDdb:PKD1;IVS34-EX46del5.5kb*;1305}" "" "IVS34-EX46del 5.5kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(?_2088710)_(2094211_2097147)del" "" "pathogenic (dominant)" "" "0000673013" "0" "90" "16" "2138711" "2144212" "del" "0" "00006" "PKD1_001193" "g.(?_2138711)_(2144212_2147148)del" "" "{PKDdb:PKD1;EX35-EX46del5kb*;2505}" "" "EX35-EX46del 5kb" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.(?_2088710)_(2094211_2097147)del" "" "pathogenic (dominant)" "" "0000673014" "0" "90" "16" "2144212" "2144212" "subst" "0" "00006" "PKD1_001548" "g.2144212C>T" "" "{PKDdb:PKD1;IVS34-1G%3EA;2458}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094211C>T" "" "pathogenic (dominant)" "" "0000673015" "0" "90" "16" "2144198" "2144198" "del" "0" "00006" "PKD1_001547" "g.2144198del" "" "{PKDdb:PKD1;10516delG;37}" "" "10516delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094197del" "" "pathogenic (dominant)" "" "0000673016" "0" "90" "16" "2144186" "2144187" "del" "0" "00006" "PKD1_001546" "g.2144186_2144187del" "" "{PKDdb:PKD1;10527_10528delGA;38}" "" "10527_10528delGA" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094185_2094186del" "" "pathogenic (dominant)" "" "0000673017" "0" "30" "16" "2144182" "2144182" "subst" "0.0210431" "00006" "PKD1_000160" "g.2144182G>A" "" "{PKDdb:PKD1;T3510M;2027}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094181G>A" "" "likely benign" "" "0000673018" "0" "30" "16" "2144180" "2144180" "subst" "0.00130126" "00006" "PKD1_000016" "g.2144180G>C" "" "{PKDdb:PKD1;L3511V;1499}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094179G>C" "" "likely benign" "" "0000673019" "0" "30" "16" "2144176" "2144176" "subst" "0.0731451" "00006" "PKD1_000770" "g.2144176G>A" "" "{PKDdb:PKD1;A3512V;823}" "" "" "reported in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094175G>A" "" "likely benign" "" "0000673020" "0" "90" "16" "2144171" "2144171" "subst" "0" "00006" "PKD1_000015" "g.2144171G>A" "" "{PKDdb:PKD1;Q3514X;1702}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094170G>A" "" "pathogenic (dominant)" "" "0000673021" "0" "70" "16" "2144160" "2144161" "ins" "2.24046E-5" "00006" "PKD1_001545" "g.2144160_2144161insTGG" "" "{PKDdb:PKD1;G3517_E3518insP;1047}" "" "10550_10551insCCA" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094159_2094160insTGG" "" "likely pathogenic (dominant)" "" "0000673022" "0" "50" "16" "2144146" "2144155" "delins" "0" "00006" "PKD1_001544" "g.2144146_2144155delinsAACTT" "" "{PKDdb:PKD1;L3519_V3522del4insQF;1500}" "" "10556_10565del10insAGTT" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094145_2094154delinsAACTT" "" "VUS" "" "0000673023" "0" "90" "16" "2144123" "2144123" "subst" "0" "00006" "PKD1_000431" "g.2144123G>A" "" "{PKDdb:PKD1;Q3530X;1704}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094122G>A" "" "pathogenic (dominant)" "" "0000673024" "0" "50" "16" "2144113" "2144113" "subst" "2.92809E-5" "00006" "PKD1_001543" "g.2144113G>C" "" "{PKDdb:PKD1;A3533G;824}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094112G>C" "" "VUS" "" "0000673025" "0" "30" "16" "2144109" "2144109" "subst" "3.41254E-5" "00006" "PKD1_001542" "g.2144109C>T" "" "{PKDdb:PKD1;10602G%3EA;39}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094108C>T" "" "likely benign" "" "0000673026" "0" "70" "16" "2144093" "2144093" "subst" "0" "00006" "PKD1_001541" "g.2144093C>G" "" "{PKDdb:PKD1;G3540R;1049}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094092C>G" "" "likely pathogenic (dominant)" "" "0000673027" "0" "90" "16" "2144091" "2144091" "subst" "0" "00006" "PKD1_001540" "g.2144091A>G" "" "{PKDdb:PKD1;IVS35~2T%3EC;2459}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094090A>G" "" "pathogenic (dominant)" "" "0000673028" "0" "30" "16" "2144076" "2144078" "del" "0" "00006" "PKD1_001539" "g.2144076_2144078del" "" "{PKDdb:PKD1;IVS35~16_~18 delCCCinsAAA;1306}" "" "10618+16_+18 delCCCi..." "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094075_2094077del" "" "likely benign" "" "0000673029" "0" "50" "16" "2144043" "2144059" "del" "0" "00006" "PKD1_001538" "g.2144043_2144059del" "" "{PKDdb:PKD1;IVS35-45_-29del17;1310}" "" "10619-45_-29del17" "indeterminate in ADPKDdb; reported in 1 family in 1 paper\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2094042_2094058del" "" "VUS" "" "0000673030" "0" "30" "16" "2144028" "2144028" "subst" "9.37244E-5" "00006" "PKD1_001537" "g.2144028G>A" "" "{PKDdb:PKD1;IVS35-14C%3ET;1308}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2094027G>A" "" "likely benign" "" "0000673031" "0" "30" "16" "2144027" "2144027" "del" "0.0013295" "00006" "PKD1_001536" "g.2144027del" "" "{PKDdb:PKD1;IVS35-13delT;1307}" "" "10619-13delT" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094026del" "" "likely benign" "" "0000673032" "0" "90" "16" "2144016" "2144016" "subst" "0" "00006" "PKD1_001535" "g.2144016T>C" "" "{PKDdb:PKD1;IVS35-2A%3EG;1309}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094015T>C" "" "pathogenic (dominant)" "" "0000673033" "0" "30" "16" "2144014" "2144014" "subst" "0.000198864" "00006" "PKD1_001026" "g.2144014C>G" "" "{PKDdb:PKD1;G3540A;1048}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2094013C>G" "" "likely benign" "" "0000673034" "0" "90" "16" "2143996" "2143999" "del" "0" "00006" "PKD1_001534" "g.2143996_2143999del" "" "{PKDdb:PKD1;10634_10637del4;2460}" "" "10634_10637delTGCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093995_2093998del" "" "pathogenic (dominant)" "" "0000673035" "0" "70" "16" "2143991" "2143991" "subst" "0" "00006" "PKD1_001533" "g.2143991G>A" "" "{PKDdb:PKD1;R3548C;1860}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093990G>A" "" "likely pathogenic (dominant)" "" "0000673036" "0" "30" "16" "2143977" "2143977" "subst" "4.98783E-6" "00006" "PKD1_001532" "g.2143977G>C" "" "{PKDdb:PKD1;10656C%3EG;40}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093976G>C" "" "likely benign" "" "0000673037" "0" "50" "16" "2143966" "2143966" "subst" "0" "00006" "PKD1_000262" "g.2143966G>A" "" "{PKDdb:PKD1;S3556F;1962}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093965G>A" "" "VUS" "" "0000673038" "0" "30" "16" "2143959" "2143959" "subst" "3.51978E-5" "00006" "PKD1_001531" "g.2143959G>A" "" "{PKDdb:PKD1;10674C%3ET;2297}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093958G>A" "" "likely benign" "" "0000673039" "0" "90" "16" "2143956" "2143957" "ins" "0" "00006" "PKD1_001529" "g.2143956_2143957insN[13]" "" "{PKDdb:PKD1;10676_10677ins13;41}" "" "10676_10677ins13" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093955_2093956insN[13]" "" "pathogenic (dominant)" "" "0000673040" "0" "30" "16" "2143957" "2143957" "subst" "0" "00006" "PKD1_001530" "g.2143957T>G" "" "{PKDdb:PKD1;H3559P;1085}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093956T>G" "" "likely benign" "" "0000673041" "0" "30" "16" "2143955" "2143955" "subst" "0.00206345" "00006" "PKD1_000167" "g.2143955C>T" "" "{PKDdb:PKD1;G3560R;1050}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093954C>T" "" "likely benign" "" "0000673042" "0" "50" "16" "2143951" "2143951" "subst" "0" "00006" "PKD1_001528" "g.2143951A>G" "" "{PKDdb:PKD1;L3561P;1501}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093950A>G" "" "VUS" "" "0000673043" "0" "50" "16" "2143948" "2143948" "subst" "0" "00006" "PKD1_001527" "g.2143948C>T" "" "{PKDdb:PKD1;S3562N;1963}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093947C>T" "" "VUS" "" "0000673044" "0" "70" "16" "2143937" "2143940" "delins" "0" "00006" "PKD1_001526" "g.2143937_2143940delinsT" "" "{PKDdb:PKD1;L3565_V3566del2insM;2590}" "" "10693_10696delCTGGinsA" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093936_2093939delinsT" "" "likely pathogenic (dominant)" "" "0000673045" "0" "90" "16" "2143913" "2143932" "del" "0" "00006" "PKD1_001524" "g.2143913_2143932del" "" "{PKDdb:PKD1;10701_10720del20;2461}" "" "10701_10720delTGTGGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093912_2093931del" "" "pathogenic (dominant)" "" "0000673046" "0" "70" "16" "2143932" "2143937" "del" "0" "00006" "PKD1_000462" "g.2143932_2143937del" "" "{PKDdb:PKD1;A3571_V3572del2;826}" "" "10710_10715del6" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093931_2093936del" "" "likely pathogenic (dominant)" "" "0000673047" "0" "90" "16" "2143915" "2143915" "subst" "0" "00006" "PKD1_001525" "g.2143915G>C" "" "{PKDdb:PKD1;S3573X;2462}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093914G>C" "" "pathogenic (dominant)" "" "0000673048" "0" "90" "16" "2143913" "2143914" "del" "0" "00006" "PKD1_001523" "g.2143913_2143914del" "" "{PKDdb:PKD1;10719_10720delAG;2463}" "" "10719_10720delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093912_2093913del" "" "pathogenic (dominant)" "" "0000673049" "0" "90" "16" "2143902" "2143912" "del" "0" "00006" "PKD1_001522" "g.2143902_2143912del" "" "{PKDdb:PKD1;10722_10732del11;2464}" "" "10722_10732delGTGGGT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093901_2093911del" "" "pathogenic (dominant)" "" "0000673050" "0" "90" "16" "2143908" "2143908" "subst" "0" "00006" "PKD1_000252" "g.2143908C>T" "" "{PKDdb:PKD1;W3575X;2130}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093907C>T" "" "pathogenic (dominant)" "" "0000673051" "0" "90" "16" "2143895" "2143895" "dup" "0" "00006" "PKD1_000008" "g.2143895dup" "" "{PKDdb:PKD1;10739_10740insT;43}" "" "10739_10740insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093894dup" "" "pathogenic (dominant)" "" "0000673052" "0" "90" "16" "2143893" "2143893" "del" "0" "00006" "PKD1_000334" "g.2143893del" "" "{PKDdb:PKD1;10745delC;45}" "" "10745delC (Pro3582fs22X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093892del" "" "pathogenic (dominant)" "" "0000673053" "0" "90" "16" "2143893" "2143893" "dup" "0" "00006" "PKD1_001521" "g.2143893dup" "" "{PKDdb:PKD1;10745_10746insC;44}" "" "10745_10746insC" "definitely pathogenic in ADPKDdb; reported in 5 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093892dup" "" "pathogenic (dominant)" "" "0000673054" "0" "90" "16" "2143886" "2143887" "ins" "0" "00006" "PKD1_001520" "g.2143886_2143887insG" "" "{PKDdb:PKD1;10746_10747insC;46}" "" "10746_10747insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093885_2093886insG" "" "pathogenic (dominant)" "" "0000673055" "0" "30" "16" "2143884" "2143884" "subst" "0.00034862" "00006" "PKD1_001519" "g.2143884G>A" "" "{PKDdb:PKD1;10749C%3ET;47}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093883G>A" "" "likely benign" "" "0000673056" "0" "90" "16" "2143878" "2143879" "del" "0" "00006" "PKD1_001518" "g.2143878_2143879del" "" "{PKDdb:PKD1;10756_10757delGT;2268}" "" "10756_10757delGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093877_2093878del" "" "pathogenic (dominant)" "" "0000673057" "0" "30" "16" "2143868" "2143868" "subst" "3.28648E-5" "00006" "PKD1_001517" "g.2143868G>A" "" "{PKDdb:PKD1;L3589F;1502}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093867G>A" "" "likely benign" "" "0000673058" "0" "30" "16" "2143865" "2143865" "subst" "0.0219739" "00006" "PKD1_000769" "g.2143865G>A" "" "{PKDdb:PKD1;10768C%3ET;48}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093864G>A" "" "likely benign" "" "0000673059" "0" "50" "16" "2143865" "2143865" "subst" "0" "00006" "PKD1_001516" "g.2143865G>T" "" "{PKDdb:PKD1;L3590M;1503}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093864G>T" "" "VUS" "" "0000673060" "0" "30" "16" "2143855" "2143855" "subst" "0" "00006" "PKD1_001515" "g.2143855C>A" "" "{PKDdb:PKD1;S3593I;1964}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093854C>A" "" "likely benign" "" "0000673061" "0" "90" "16" "2143853" "2143853" "dup" "0" "00006" "PKD1_000333" "g.2143853dup" "" "{PKDdb:PKD1;10780_10781insG;49}" "" "10780_10781insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093852dup" "" "pathogenic (dominant)" "" "0000673062" "0" "70" "16" "2143852" "2143857" "del" "0" "00006" "PKD1_001514" "g.2143852_2143857del" "" "{PKDdb:PKD1;A3594_S3595del2;827}" "" "10780_10785delGCCAGC" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093851_2093856del" "" "likely pathogenic (dominant)" "" "0000673063" "0" "90" "16" "2143845" "2143845" "del" "0" "00006" "PKD1_001513" "g.2143845del" "" "{PKDdb:PKD1;10789delC;2465}" "" "10789delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093844del" "" "pathogenic (dominant)" "" "0000673064" "0" "70" "16" "2143837" "2143837" "subst" "0" "00006" "PKD1_001511" "g.2143837G>A" "" "{PKDdb:PKD1;S3599L;1965}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093836G>A" "" "likely pathogenic (dominant)" "" "0000673065" "0" "90" "16" "2143837" "2143837" "subst" "0" "00006" "PKD1_001512" "g.2143837G>T" "" "{PKDdb:PKD1;S3599X;2466}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093836G>T" "" "pathogenic (dominant)" "" "0000673066" "0" "50" "16" "2143829" "2143829" "subst" "2.41502E-5" "00006" "PKD1_000220" "g.2143829C>T" "" "{PKDdb:PKD1;G3602S;1051}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093828C>T" "" "VUS" "" "0000673067" "0" "70" "16" "2143826" "2143826" "subst" "0" "00006" "PKD1_000467" "g.2143826A>G" "" "{PKDdb:PKD1;W3603R;2131}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093825A>G" "" "likely pathogenic (dominant)" "" "0000673068" "0" "90" "16" "2143825" "2143825" "subst" "0" "00006" "PKD1_001510" "g.2143825C>T" "" "{PKDdb:PKD1;W3603X;2132}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093824C>T" "" "pathogenic (dominant)" "" "0000673069" "0" "70" "16" "2143823" "2143823" "subst" "0" "00006" "PKD1_000332" "g.2143823C>T" "" "{PKDdb:PKD1;E3604K;946}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093822C>T" "" "likely pathogenic (dominant)" "" "0000673070" "0" "90" "16" "2143810" "2143810" "subst" "0" "00006" "PKD1_001509" "g.2143810A>C" "" "{PKDdb:PKD1;IVS36~2G%3ET;1312}" "" "10821+2G>T" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093809A>C" "" "pathogenic (dominant)" "" "0000673071" "0" "30" "16" "2143753" "2143753" "subst" "0.00799048" "00006" "PKD1_001508" "g.2143753G>A" "" "{PKDdb:PKD1;IVS36-14C%3ET;2317}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093752G>A" "" "likely benign" "" "0000673072" "0" "30" "16" "2143747" "2143747" "subst" "0.00021835" "00006" "PKD1_001505" "g.2143747G>C" "" "{PKDdb:PKD1;IVS36-8C%3EG;1314}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093746G>C" "" "likely benign" "" "0000673073" "0" "30" "16" "2143747" "2143747" "subst" "0" "00006" "PKD1_001506" "g.2143747G>A" "" "{PKDdb:PKD1;IVS36-8C%3ET;1315}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093746G>A" "" "likely benign" "" "0000673074" "0" "30" "16" "2143751" "2143751" "del" "0" "00006" "PKD1_001507" "g.2143751del" "" "{PKDdb:PKD1;IVS36-8delC;1316}" "" "10822-8delC" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093750del" "" "likely benign" "" "0000673075" "0" "30" "16" "2143745" "2143745" "del" "0" "00006" "PKD1_001504" "g.2143745del" "" "{PKDdb:PKD1;IVS36-3delC;1313}" "" "10822-3delC" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093744del" "" "likely benign" "" "0000673076" "0" "50" "16" "2143732" "2143732" "subst" "0" "00006" "PKD1_001503" "g.2143732A>G" "" "{PKDdb:PKD1;L3610P;1504}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093731A>G" "" "VUS" "" "0000673077" "0" "90" "16" "2143729" "2143729" "del" "0" "00006" "PKD1_001502" "g.2143729del" "" "{PKDdb:PKD1;10833delA;2467}" "" "10833delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093728del" "" "pathogenic (dominant)" "" "0000673078" "0" "30" "16" "2143725" "2143725" "subst" "1.47917E-5" "00006" "PKD1_001501" "g.2143725G>C" "" "{PKDdb:PKD1;10836C%3EG;52}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093724G>C" "" "likely benign" "" "0000673079" "0" "70" "16" "2143721" "2143721" "subst" "0" "00006" "PKD1_001500" "g.2143721A>G" "" "{PKDdb:PKD1;Y3614H;2181}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093720A>G" "" "likely pathogenic (dominant)" "" "0000673080" "0" "70" "16" "2143711" "2143711" "subst" "0" "00006" "PKD1_000456" "g.2143711A>G" "" "{PKDdb:PKD1;L3617P;1505}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093710A>G" "" "likely pathogenic (dominant)" "" "0000673081" "0" "90" "16" "2143705" "2143705" "dup" "0" "00006" "PKD1_000251" "g.2143705dup" "" "{PKDdb:PKD1;10857_10858insC;53}" "" "10857_10858insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093704dup" "" "pathogenic (dominant)" "" "0000673082" "0" "30" "16" "2143689" "2143689" "subst" "0.000147031" "00006" "PKD1_001499" "g.2143689C>T" "" "{PKDdb:PKD1;10872G%3EA;55}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093688C>T" "" "likely benign" "" "0000673083" "0" "90" "16" "2143665" "2143668" "del" "0" "00006" "PKD1_001498" "g.2143665_2143668del" "" "{PKDdb:PKD1;10895_10898del4;2468}" "" "10895_10898delAGAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093664_2093667del" "" "pathogenic (dominant)" "" "0000673084" "0" "70" "16" "2143665" "2143665" "subst" "0" "00006" "PKD1_000007" "g.2143665C>G" "" "{PKDdb:PKD1;E3632D;947}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093664C>G" "" "likely pathogenic (dominant)" "" "0000673085" "0" "90" "16" "2143667" "2143668" "del" "0" "00006" "PKD1_001497" "g.2143667_2143668del" "" "{PKDdb:PKD1;10897_10898delAG;2469}" "" "10897_10898delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093666_2093667del" "" "pathogenic (dominant)" "" "0000673086" "0" "30" "16" "2143653" "2143653" "subst" "0" "00006" "PKD1_001496" "g.2143653C>T" "" "{PKDdb:PKD1;10908G%3EA;57}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093652C>T" "" "likely benign" "" "0000673087" "0" "90" "16" "2143631" "2143631" "del" "0" "00006" "PKD1_001495" "g.2143631del" "" "{PKDdb:PKD1;10933delC;58}" "" "10933delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093630del" "" "pathogenic (dominant)" "" "0000673088" "0" "70" "16" "2143618" "2143618" "subst" "0" "00006" "PKD1_001494" "g.2143618G>A" "" "{PKDdb:PKD1;P3648L;1613}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093617G>A" "" "likely pathogenic (dominant)" "" "0000673089" "0" "90" "16" "2143609" "2143616" "del" "0" "00006" "PKD1_001491" "g.2143609_2143616del" "" "{PKDdb:PKD1;10945_10952del8;59}" "" "10945_10952delCCCCAC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093608_2093615del" "" "pathogenic (dominant)" "" "0000673090" "0" "70" "16" "2143612" "2143613" "delins" "0" "00006" "PKD1_001493" "g.2143612_2143613delinsCCAC" "" "{PKDdb:PKD1;H3650P_G3651insV;1086}" "" "10948_10949delCinsGTGG (H3650P_G3651insV)" "variant decription not correct; likely pathogenic in ADPKDdb; reported in 1 family in 1 paper\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2093611_2093612delinsCCAC" "" "likely pathogenic (dominant)" "" "0000673091" "0" "70" "16" "2143610" "2143610" "subst" "0" "00006" "PKD1_000261" "g.2143610C>T" "" "{PKDdb:PKD1;G3651S;1052}" "" "" "highly likely pathogenic in ADPKDdb; reported in 7 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093609C>T" "" "likely pathogenic (dominant)" "" "0000673092" "0" "70" "16" "2143609" "2143609" "subst" "0" "00006" "PKD1_001492" "g.2143609C>T" "" "{PKDdb:PKD1;G3651D;2555}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093608C>T" "" "likely pathogenic (dominant)" "" "0000673093" "0" "70" "16" "2143603" "2143603" "subst" "0" "00006" "PKD1_001490" "g.2143603G>A" "" "{PKDdb:PKD1;A3653V;2524}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093602G>A" "" "likely pathogenic (dominant)" "" "0000673094" "0" "70" "16" "2143601" "2143601" "subst" "0" "00006" "PKD1_001489" "g.2143601G>C" "" "{PKDdb:PKD1;L3654V;1506}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093600G>C" "" "likely pathogenic (dominant)" "" "0000673095" "0" "90" "16" "2143596" "2143596" "del" "0" "00006" "PKD1_001488" "g.2143596del" "" "{PKDdb:PKD1;10966delC;2470}" "" "10966delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093595del" "" "pathogenic (dominant)" "" "0000673096" "0" "50" "16" "2143592" "2143592" "subst" "0" "00006" "PKD1_001487" "g.2143592C>G" "" "{PKDdb:PKD1;A3657P;829}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093591C>G" "" "VUS" "" "0000673097" "0" "70" "16" "2143591" "2143591" "subst" "0" "00006" "PKD1_001486" "g.2143591G>T" "" "{PKDdb:PKD1;A3657D;2556}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093590G>T" "" "likely pathogenic (dominant)" "" "0000673098" "0" "90" "16" "2143579" "2143579" "del" "0" "00006" "PKD1_000188" "g.2143579del" "" "{PKDdb:PKD1;10984delC;60}" "" "10984delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093578del" "" "pathogenic (dominant)" "" "0000673099" "0" "90" "16" "2143557" "2143557" "dup" "0" "00006" "PKD1_001485" "g.2143557dup" "" "{PKDdb:PKD1;11004_11005insT;2576}" "" "11004_11005insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093556dup" "" "pathogenic (dominant)" "" "0000673100" "0" "30" "16" "2143554" "2143554" "subst" "0" "00006" "PKD1_001484" "g.2143554G>A" "" "{PKDdb:PKD1;11007C%3ET;2298}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093553G>A" "" "likely benign" "" "0000673101" "0" "70" "16" "2143546" "2143546" "subst" "0" "00006" "PKD1_001483" "g.2143546C>G" "" "{PKDdb:PKD1;R3672P;1862}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093545C>G" "" "likely pathogenic (dominant)" "" "0000673102" "0" "30" "16" "2143546" "2143546" "subst" "0.000429801" "00006" "PKD1_000594" "g.2143546C>T" "" "{PKDdb:PKD1;R3672Q;1863}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093545C>T" "" "likely benign" "" "0000673103" "0" "90" "16" "2143544" "2143544" "subst" "0" "00006" "PKD1_001482" "g.2143544C>T" "" "{PKDdb:PKD1;IVS37~1G%3EA;2471}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093543C>T" "" "pathogenic (dominant)" "" "0000673104" "0" "30" "16" "2143510" "2143510" "subst" "0" "00006" "PKD1_001481" "g.2143510G>A" "" "{PKDdb:PKD1;IVS37~35C%3ET;1318}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093509G>A" "" "likely benign" "" "0000673105" "0" "30" "16" "2143509" "2143509" "subst" "0.00117624" "00006" "PKD1_001480" "g.2143509G>A" "" "{PKDdb:PKD1;IVS37~36C%3ET;1319}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093508G>A" "" "likely benign" "" "0000673106" "0" "30" "16" "2143502" "2143503" "del" "0.014848" "00006" "PKD1_001479" "g.2143502_2143503del" "" "{PKDdb:PKD1;IVS37~42_~43delTT;1320}" "" "11016+42_+43delTT" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093501_2093502del" "" "likely benign" "" "0000673107" "0" "30" "16" "2143390" "2143390" "subst" "0" "00006" "PKD1_001478" "g.2143390G>C" "" "{PKDdb:PKD1;IVS37~155C%3EG;1317}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093389G>C" "" "likely benign" "" "0000673108" "0" "30" "16" "2143117" "2143117" "subst" "0.000282428" "00006" "PKD1_001477" "g.2143117G>C" "" "{PKDdb:PKD1;IVS37-23C%3EG;1324}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093116G>C" "" "likely benign" "" "0000673109" "0" "70" "16" "2143104" "2143104" "subst" "0" "00006" "PKD1_001475" "g.2143104G>T" "" "{PKDdb:PKD1;IVS37-10C%3EA;1322}" "" "" "highly likely pathogenic in ADPKDdb; reported in 8 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093103G>T" "" "likely pathogenic (dominant)" "" "0000673110" "0" "30" "16" "2143110" "2143110" "dup" "0" "00006" "PKD1_001476" "g.2143110dup" "" "{PKDdb:PKD1;IVS37-10_-9insC;1321}" "" "11017-10_-9insC" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093109dup" "" "likely benign" "" "0000673111" "0" "50" "16" "2143103" "2143103" "dup" "0" "00006" "PKD1_001474" "g.2143103dup" "" "{PKDdb:PKD1;IVS37-9_-8insG;1327}" "" "11017-9_-8insG" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093102dup" "" "VUS" "" "0000673112" "0" "30" "16" "2143098" "2143098" "subst" "0" "00006" "PKD1_001473" "g.2143098G>A" "" "{PKDdb:PKD1;IVS37-4C%3ET;1326}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093097G>A" "" "likely benign" "" "0000673113" "0" "30" "16" "2143097" "2143097" "subst" "0.00107037" "00006" "PKD1_002852" "g.2143097G>A" "" "{PKDdb:PKD1;IVS37-3C%3ET;1325}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093096G>A" "" "likely benign" "" "0000673114" "0" "90" "16" "2143095" "2143095" "subst" "0" "00006" "PKD1_001472" "g.2143095C>A" "" "{PKDdb:PKD1;IVS37-1G%3ET;1323}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093094C>A" "" "pathogenic (dominant)" "" "0000673115" "0" "30" "16" "2143086" "2143086" "subst" "4.07521E-6" "00006" "PKD1_001471" "g.2143086C>T" "" "{PKDdb:PKD1;11025G%3EA;61}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093085C>T" "" "likely benign" "" "0000673116" "0" "50" "16" "2143078" "2143078" "subst" "0" "00006" "PKD1_000025" "g.2143078A>G" "" "{PKDdb:PKD1;M3678T;1552}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093077A>G" "" "VUS" "" "0000673117" "0" "70" "16" "2143066" "2143066" "subst" "0" "00006" "PKD1_001470" "g.2143066A>T" "" "{PKDdb:PKD1;L3682Q;1507}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093065A>T" "" "likely pathogenic (dominant)" "" "0000673118" "0" "90" "16" "2143038" "2143038" "dup" "0" "00006" "PKD1_001469" "g.2143038dup" "" "{PKDdb:PKD1;11073_11074insT;64}" "" "11073_11074insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2093037dup" "" "pathogenic (dominant)" "" "0000673119" "0" "90" "16" "2143036" "2143036" "dup" "0" "00006" "PKD1_001468" "g.2143036dup" "" "{PKDdb:PKD1;11076_11077insC;65}" "" "11076_11077insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093035dup" "" "pathogenic (dominant)" "" "0000673120" "0" "90" "16" "2143033" "2143033" "dup" "0" "00006" "PKD1_000090" "g.2143033dup" "" "{PKDdb:PKD1;11078_11079insC;2653}" "" "11078_11079insC" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093032dup" "" "pathogenic (dominant)" "" "0000673121" "0" "50" "16" "2143033" "2143033" "subst" "4.06861E-6" "00006" "PKD1_000455" "g.2143033G>A" "" "{PKDdb:PKD1;S3693L;1966}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093032G>A" "" "VUS" "" "0000673122" "0" "30" "16" "2143031" "2143031" "subst" "0" "00006" "PKD1_000454" "g.2143031A>G" "" "{PKDdb:PKD1;C3694R;871}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093030A>G" "" "likely benign" "" "0000673123" "0" "90" "16" "2143029" "2143029" "subst" "0" "00006" "PKD1_000159" "g.2143029G>T" "" "{PKDdb:PKD1;C3694X;872}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093028G>T" "" "pathogenic (dominant)" "" "0000673124" "0" "90" "16" "2143021" "2143021" "dup" "0" "00006" "PKD1_001467" "g.2143021dup" "" "{PKDdb:PKD1;11090_11091insA;2269}" "" "11090_11091insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093020dup" "" "pathogenic (dominant)" "" "0000673125" "0" "90" "16" "2143020" "2143020" "del" "0" "00006" "PKD1_001466" "g.2143020del" "" "{PKDdb:PKD1;11091delC;2472}" "" "11091delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093019del" "" "pathogenic (dominant)" "" "0000673126" "0" "50" "16" "2143019" "2143019" "subst" "0" "00006" "PKD1_001465" "g.2143019C>T" "" "{PKDdb:PKD1;A3698T;830}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093018C>T" "" "VUS" "" "0000673127" "0" "90" "16" "2143007" "2143007" "subst" "0" "00006" "PKD1_000219" "g.2143007G>A" "" "{PKDdb:PKD1;Q3702X;1705}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093006G>A" "" "pathogenic (dominant)" "" "0000673128" "0" "30" "16" "2143003" "2143003" "subst" "0" "00006" "PKD1_001464" "g.2143003C>G" "" "{PKDdb:PKD1;S3703T;1967}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2093002C>G" "" "likely benign" "" "0000673129" "0" "90" "16" "2142992" "2142992" "subst" "0" "00006" "PKD1_001463" "g.2142992G>A" "" "{PKDdb:PKD1;Q3707X;1706}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092991G>A" "" "pathogenic (dominant)" "" "0000673130" "0" "90" "16" "2142970" "2142983" "del" "0" "00006" "PKD1_001461" "g.2142970_2142983del" "" "{PKDdb:PKD1;11129_11142del14;2473}" "" "11129_11142delACAGCC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092969_2092982del" "" "pathogenic (dominant)" "" "0000673131" "0" "90" "16" "2142978" "2142978" "del" "0" "00006" "PKD1_000040" "g.2142978del" "" "{PKDdb:PKD1;11134delC;66}" "" "11134delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092977del" "" "pathogenic (dominant)" "" "0000673132" "0" "50" "16" "2142977" "2142977" "subst" "1.22054E-5" "00006" "PKD1_001462" "g.2142977G>A" "" "{PKDdb:PKD1;R3712W;1864}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092976G>A" "" "VUS" "" "0000673133" "0" "30" "16" "2142968" "2142968" "subst" "4.06745E-6" "00006" "PKD1_001459" "g.2142968G>A" "" "{PKDdb:PKD1;11143C%3ET;67}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092967G>A" "" "likely benign" "" "0000673134" "0" "90" "16" "2142969" "2142969" "del" "0" "00006" "PKD1_001460" "g.2142969del" "" "{PKDdb:PKD1;11143delC;68}" "" "11143delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092968del" "" "pathogenic (dominant)" "" "0000673135" "0" "70" "16" "2142955" "2142955" "subst" "0" "00006" "PKD1_000107" "g.2142955C>T" "" "{PKDdb:PKD1;R3719Q;1865}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092954C>T" "" "likely pathogenic (dominant)" "" "0000673136" "0" "90" "16" "2142954" "2142954" "subst" "0" "00006" "PKD1_001458" "g.2142954C>A" "" "{PKDdb:PKD1;IVS38~1G%3ET;1331}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092953C>A" "" "pathogenic (dominant)" "" "0000673137" "0" "30" "16" "2142944" "2142944" "subst" "0" "00006" "PKD1_001457" "g.2142944C>T" "" "{PKDdb:PKD1;IVS38~11G%3EA;1328}" "" "11156+11G>A" "variant decription not correct; reported in 1 paper\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2092943C>T" "" "likely benign" "" "0000673138" "0" "30" "16" "2142943" "2142943" "subst" "0.000154573" "00006" "PKD1_001456" "g.2142943G>A" "" "{PKDdb:PKD1;IVS38~12C%3ET;1329}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092942G>A" "" "likely benign" "" "0000673139" "0" "30" "16" "2142942" "2142942" "subst" "0.0107386" "00006" "PKD1_001455" "g.2142942C>T" "" "{PKDdb:PKD1;IVS38~13G%3EA;1330}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092941C>T" "" "likely benign" "" "0000673140" "0" "30" "16" "2142670" "2142670" "subst" "0" "00006" "PKD1_001454" "g.2142670G>T" "" "{PKDdb:PKD1;IVS38-77C%3EA;1333}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092669G>T" "" "likely benign" "" "0000673141" "0" "30" "16" "2142598" "2142598" "subst" "0" "00006" "PKD1_001452" "g.2142598C>A" "" "{PKDdb:PKD1;IVS38-5G%3ET;1332}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092597C>A" "" "likely benign" "" "0000673142" "0" "90" "16" "2142581" "2142582" "ins" "0" "00006" "PKD1_001451" "g.2142581_2142582insN[19]" "" "{PKDdb:PKD1;11168_11169ins19;69}" "" "11168_11169ins19" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092580_2092581insN[19]" "" "pathogenic (dominant)" "" "0000673143" "0" "70" "16" "2142574" "2142574" "subst" "0" "00006" "PKD1_000424" "g.2142574A>G" "" "{PKDdb:PKD1;W3726R;2133}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092573A>G" "" "likely pathogenic (dominant)" "" "0000673144" "0" "70" "16" "2142573" "2142573" "subst" "0" "00006" "PKD1_000430" "g.2142573C>G" "" "{PKDdb:PKD1;W3726S;2134}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092572C>G" "" "likely pathogenic (dominant)" "" "0000673145" "0" "30" "16" "2142568" "2142568" "subst" "0" "00006" "PKD1_001450" "g.2142568C>G" "" "{PKDdb:PKD1;A3728P;831}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092567C>G" "" "likely benign" "" "0000673146" "0" "90" "16" "2142567" "2142567" "del" "0" "00006" "PKD1_000330" "g.2142567del" "" "{PKDdb:PKD1;11185delC;70}" "" "11185delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092566del" "" "pathogenic (dominant)" "" "0000673147" "0" "70" "16" "2142558" "2142558" "subst" "0" "00006" "PKD1_001449" "g.2142558A>T" "" "{PKDdb:PKD1;L3731Q;1508}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092557A>T" "" "likely pathogenic (dominant)" "" "0000673148" "0" "70" "16" "2142546" "2142546" "subst" "0" "00006" "PKD1_001448" "g.2142546A>T" "" "{PKDdb:PKD1;V3735D;2621}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092545A>T" "" "likely pathogenic (dominant)" "" "0000673149" "0" "70" "16" "2142544" "2142549" "del" "0" "00006" "PKD1_001447" "g.2142544_2142549del" "" "{PKDdb:PKD1;V3735_H3736del2;2525}" "" "11204_11209delTCCACG" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092543_2092548del" "" "likely pathogenic (dominant)" "" "0000673150" "0" "90" "16" "2142507" "2142521" "del" "0" "00006" "PKD1_001445" "g.2142507_2142521del" "" "{PKDdb:PKD1;G3745_L3749del5;2474}" "" "11233_11247delGGGCCC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092506_2092520del" "" "pathogenic (dominant)" "" "0000673151" "0" "90" "16" "2142495" "2142509" "del" "0" "00006" "PKD1_001441" "g.2142495_2142509del" "" "{PKDdb:PKD1;R3748_V3752del5;1866}" "" "11241_11255delACGGCT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092494_2092508del" "" "pathogenic (dominant)" "" "0000673152" "0" "70" "16" "2142504" "2142506" "del" "0" "00006" "PKD1_001444" "g.2142504_2142506del" "" "{PKDdb:PKD1;L3749del;2526}" "" "11246_11248delTGC" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092503_2092505del" "" "likely pathogenic (dominant)" "" "0000673153" "0" "70" "16" "2142504" "2142504" "subst" "0" "00006" "PKD1_001446" "g.2142504A>G" "" "{PKDdb:PKD1;L3749P;1510}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092503A>G" "" "likely pathogenic (dominant)" "" "0000673154" "0" "70" "16" "2142501" "2142501" "subst" "4.11238E-6" "00006" "PKD1_000466" "g.2142501C>T" "" "{PKDdb:PKD1;R3750Q (11249G%3EA);1868}" "" "" "highly likely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092500C>T" "" "likely pathogenic (dominant)" "" "0000673155" "0" "70" "16" "2142500" "2142501" "delins" "0" "00006" "PKD1_001443" "g.2142500_2142501delinsTT" "" "{PKDdb:PKD1;R3750Q (11249_11250delGGinsAA);2527}" "" "11249_11250delGGinsAA" "highly likely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092499_2092500delinsTT" "" "likely pathogenic (dominant)" "" "0000673156" "0" "90" "16" "2142494" "2142508" "del" "0" "00006" "PKD1_000006" "g.2142494_2142508del" "" "{PKDdb:PKD1;R3750_L3754del5;1867}" "" "11249_11263delGGCAGG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092493_2092507del" "" "pathogenic (dominant)" "" "0000673157" "0" "70" "16" "2142499" "2142499" "subst" "0" "00006" "PKD1_001442" "g.2142499G>T" "" "{PKDdb:PKD1;Q3751K;2558}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092498G>T" "" "likely pathogenic (dominant)" "" "0000673158" "0" "90" "16" "2142499" "2142499" "subst" "0" "00006" "PKD1_000226" "g.2142499G>A" "" "{PKDdb:PKD1;Q3751X;1708}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092498G>A" "" "pathogenic (dominant)" "" "0000673159" "0" "70" "16" "2142498" "2142498" "subst" "0" "00006" "PKD1_000225" "g.2142498T>C" "" "{PKDdb:PKD1;Q3751R;1707}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092497T>C" "" "likely pathogenic (dominant)" "" "0000673160" "0" "30" "16" "2142493" "2142493" "subst" "0" "00006" "PKD1_001440" "g.2142493G>T" "" "{PKDdb:PKD1;11257C%3EA;72}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092492G>T" "" "likely benign" "" "0000673161" "0" "70" "16" "2142493" "2142493" "subst" "0" "00006" "PKD1_000070" "g.2142493G>A" "" "{PKDdb:PKD1;R3753W;1870}" "" "" "highly likely pathogenic in ADPKDdb; reported in 8 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092492G>A" "" "likely pathogenic (dominant)" "" "0000673162" "0" "70" "16" "2142492" "2142492" "subst" "0" "00006" "PKD1_001439" "g.2142492C>A" "" "{PKDdb:PKD1;R3753L;2270}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092491C>A" "" "likely pathogenic (dominant)" "" "0000673163" "0" "70" "16" "2142492" "2142492" "subst" "0" "00006" "PKD1_000329" "g.2142492C>T" "" "{PKDdb:PKD1;R3753Q;1869}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092491C>T" "" "likely pathogenic (dominant)" "" "0000673164" "0" "30" "16" "2142488" "2142488" "subst" "0.00494176" "00006" "PKD1_001438" "g.2142488C>G" "" "{PKDdb:PKD1;11262G%3EC;73}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092487C>G" "" "likely benign" "" "0000673165" "0" "90" "16" "2142480" "2142480" "subst" "0" "00006" "PKD1_000014" "g.2142480C>G" "" "{PKDdb:PKD1;IVS39~1G%3EC;1335}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092479C>G" "" "pathogenic (dominant)" "" "0000673166" "0" "30" "16" "2142353" "2142353" "subst" "0" "00006" "PKD1_001437" "g.2142353G>A" "" "{PKDdb:PKD1;IVS39~128C%3ET;1334}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092352G>A" "" "likely benign" "" "0000673167" "0" "90" "16" "2142142" "2142192" "del" "0" "00006" "PKD1_001428" "g.2142142_2142192del" "" "{PKDdb:PKD1;IVS39-27_11314del72;1338}" "" "11270_11320del51" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092141_2092191del" "" "pathogenic (dominant)" "" "0000673168" "0" "90" "16" "2142142" "2142192" "del" "0" "00006" "PKD1_001428" "g.2142142_2142192del" "" "{PKDdb:PKD1;IVS39-25_11316del72;1337}" "" "11270_11320del51" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092141_2092191del" "" "pathogenic (dominant)" "" "0000673169" "0" "90" "16" "2142190" "2142190" "subst" "0" "00006" "PKD1_001435" "g.2142190C>A" "" "{PKDdb:PKD1;IVS39-1G%3ET;1336}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092189C>A" "" "pathogenic (dominant)" "" "0000673170" "0" "50" "16" "2142174" "2142174" "subst" "3.05157E-5" "00006" "PKD1_001434" "g.2142174G>A" "" "{PKDdb:PKD1;P3762L;1615}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092173G>A" "" "VUS" "" "0000673171" "0" "30" "16" "2142167" "2142167" "subst" "2.54846E-5" "00006" "PKD1_001433" "g.2142167G>T" "" "{PKDdb:PKD1;11292C%3EA;74}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092166G>T" "" "likely benign" "" "0000673172" "0" "90" "16" "2142163" "2142163" "delins" "0" "00006" "PKD1_001432" "g.2142163delinsCG" "" "{PKDdb:PKD1;11296delAinsCG;2475}" "" "11296delAinsCG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092162delinsCG" "" "pathogenic (dominant)" "" "0000673173" "0" "90" "16" "2142142" "2142164" "del" "0" "00006" "PKD1_001427" "g.2142142_2142164del" "" "{PKDdb:PKD1;11299_11321del23;75}" "" "11299_11321delGTCCAC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092141_2092163del" "" "pathogenic (dominant)" "" "0000673174" "0" "90" "16" "2142095" "2142155" "del" "0" "00006" "PKD1_001413" "g.2142095_2142155del" "" "{PKDdb:PKD1;11307_11367del61;76}" "" "11307_11367del61" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092094_2092154del" "" "pathogenic (dominant)" "" "0000673175" "0" "90" "16" "2142150" "2142150" "dup" "0" "00006" "PKD1_001431" "g.2142150dup" "" "{PKDdb:PKD1;11309_11310insG;2577}" "" "11309_11310insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092149dup" "" "pathogenic (dominant)" "" "0000673176" "0" "30" "16" "2142146" "2142146" "subst" "4.10263E-6" "00006" "PKD1_001430" "g.2142146C>T" "" "{PKDdb:PKD1;11313G%3EA;77}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092145C>T" "" "likely benign" "" "0000673177" "0" "90" "16" "2142142" "2142143" "ins" "0" "00006" "PKD1_001429" "g.2142142_2142143insT" "" "{PKDdb:PKD1;11316_11317insA;2476}" "" "11316_11317insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092141_2092142insT" "" "pathogenic (dominant)" "" "0000673178" "0" "90" "16" "2142137" "2142138" "ins" "0" "00006" "PKD1_001426" "g.2142137_2142138insTT" "" "{PKDdb:PKD1;11322_11323insAA;78}" "" "11322_11323insAA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092136_2092137insTT" "" "pathogenic (dominant)" "" "0000673179" "0" "90" "16" "2142110" "2142136" "del" "0" "00006" "PKD1_001416" "g.2142110_2142136del" "" "{PKDdb:PKD1;F3776_G3784del9;2477}" "" "11327_11353del27" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092109_2092135del" "" "pathogenic (dominant)" "" "0000673180" "0" "30" "16" "2142126" "2142126" "subst" "0.000465094" "00006" "PKD1_001425" "g.2142126G>T" "" "{PKDdb:PKD1;T3778N;2028}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092125G>T" "" "likely benign" "" "0000673181" "0" "30" "16" "2142122" "2142122" "subst" "0.000746555" "00006" "PKD1_001423" "g.2142122G>C" "" "{PKDdb:PKD1;S3779R;1969}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092121G>C" "" "likely benign" "" "0000673182" "0" "90" "16" "2142124" "2142142" "dup" "0" "00006" "PKD1_001424" "g.2142124_2142142dup" "" "{PKDdb:PKD1;11337_11338ins19;2271}" "" "11337_11338insAGGAGGCTTCAGCACCAGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092123_2092141dup" "" "pathogenic (dominant)" "" "0000673183" "0" "90" "16" "2142112" "2142119" "del" "0" "00006" "PKD1_000069" "g.2142112_2142119del" "" "{PKDdb:PKD1;11340_11347del8;79}" "" "11340_11347delTTACGA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092111_2092118del" "" "pathogenic (dominant)" "" "0000673184" "0" "70" "16" "2142117" "2142122" "del" "0" "00006" "PKD1_000453" "g.2142117_2142122del" "" "{PKDdb:PKD1;Y3781_D3782del2;2182}" "" "11340_11345delTTACGA" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092116_2092121del" "" "likely pathogenic (dominant)" "" "0000673185" "0" "90" "16" "2142118" "2142127" "dup" "0" "00006" "PKD1_000024" "g.2142118_2142127dup" "" "{PKDdb:PKD1;11341_11342ins10;80}" "" "11341_11342insACCAGCGATT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092117_2092126dup" "" "pathogenic (dominant)" "" "0000673186" "0" "90" "16" "2142116" "2142116" "subst" "0" "00006" "PKD1_000187" "g.2142116G>C" "" "{PKDdb:PKD1;Y3781X;2184}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092115G>C" "" "pathogenic (dominant)" "" "0000673187" "0" "70" "16" "2142115" "2142116" "ins" "0" "00006" "PKD1_001420" "g.2142115_2142116insTTC" "" "{PKDdb:PKD1;Y3781_D3782insE;2183}" "" "11344_11345insAAG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092114_2092115insTTC" "" "likely pathogenic (dominant)" "" "0000673188" "0" "90" "16" "2142114" "2142121" "dup" "0" "00006" "PKD1_000452" "g.2142114_2142121dup" "" "{PKDdb:PKD1;11345_11346ins8;81}" "" "11345_11346insGATTACGA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092113_2092120dup" "" "pathogenic (dominant)" "" "0000673189" "0" "70" "16" "2142115" "2142117" "del" "0" "00006" "PKD1_001419" "g.2142115_2142117del" "" "{PKDdb:PKD1;D3782del;2528}" "" "11345_11347delACG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092114_2092116del" "" "likely pathogenic (dominant)" "" "0000673190" "0" "70" "16" "2142117" "2142122" "dup" "0" "00006" "PKD1_001422" "g.2142117_2142122dup" "" "{PKDdb:PKD1;D3782_V3783insYD;2592}" "" "11345_11346insTTACGA" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092116_2092121dup" "" "likely pathogenic (dominant)" "" "0000673191" "0" "30" "16" "2142113" "2142113" "subst" "0.00470186" "00006" "PKD1_000815" "g.2142113G>A" "" "{PKDdb:PKD1;11346C%3ET;82}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092112G>A" "" "likely benign" "" "0000673192" "0" "70" "16" "2142112" "2142113" "ins" "0" "00006" "PKD1_001418" "g.2142112_2142113insN[6]" "" "{PKDdb:PKD1;D3782_V3783ins2;896}" "" "11346_11347ins6" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092111_2092112insN[6]" "" "likely pathogenic (dominant)" "" "0000673193" "0" "90" "16" "2142113" "2142119" "dup" "0" "00006" "PKD1_001421" "g.2142113_2142119dup" "" "{PKDdb:PKD1;11346_11347ins7;2578}" "" "11346_11347insTTACGAC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092112_2092118dup" "" "pathogenic (dominant)" "" "0000673194" "0" "90" "16" "2142108" "2142109" "ins" "0" "00006" "PKD1_001417" "g.2142108_2142109insA" "" "{PKDdb:PKD1;11350_1351insT;83}" "" "11350_1351insT" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092107_2092108insA" "" "pathogenic (dominant)" "" "0000673195" "0" "90" "16" "2142104" "2142104" "subst" "0" "00006" "PKD1_000224" "g.2142104C>T" "" "{PKDdb:PKD1;W3785X;2135}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092103C>T" "" "pathogenic (dominant)" "" "0000673196" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "00006" "PKD1_002853" "g.2142103C>G" "" "{PKDdb:PKD1;E3786Q;948}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092102C>G" "" "likely benign" "" "0000673197" "0" "90" "16" "2142098" "2142098" "del" "0" "00006" "PKD1_001415" "g.2142098del" "" "{PKDdb:PKD1;11361delT;2478}" "" "11361delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092097del" "" "pathogenic (dominant)" "" "0000673198" "0" "90" "16" "2142097" "2142116" "dup" "0" "00006" "PKD1_001414" "g.2142097_2142116dup" "" "{PKDdb:PKD1;11363_11364ins20;2579}" "" "11363_11364insGACGTTGGCTGGGAGAGTCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092096_2092115dup" "" "pathogenic (dominant)" "" "0000673199" "0" "70" "16" "2142084" "2142089" "del" "0" "00006" "PKD1_001411" "g.2142084_2142089del" "" "{PKDdb:PKD1;N3790_S3792del3insK;1577}" "" "11370_11375delTGGCTC" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092083_2092088del" "" "likely pathogenic (dominant)" "" "0000673200" "0" "90" "16" "2142087" "2142088" "ins" "0" "00006" "PKD1_001412" "g.2142087_2142088insN[44]" "" "{PKDdb:PKD1;11371_11372ins44;84}" "" "11371_11372ins44" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092086_2092087insN[44]" "" "pathogenic (dominant)" "" "0000673201" "0" "30" "16" "2142083" "2142083" "subst" "0.00445305" "00006" "PKD1_002854" "g.2142083C>G" "" "{PKDdb:PKD1;11376G%3EC;85}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092082C>G" "" "likely benign" "" "0000673202" "0" "90" "16" "2142083" "2142083" "del" "0" "00006" "PKD1_000083" "g.2142083del" "" "{PKDdb:PKD1;11379delG;86}" "" "11379delG" "definitely pathogenic in ADPKDdb; reported in 8 families in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092082del" "" "pathogenic (dominant)" "" "0000673203" "0" "90" "16" "2142075" "2142075" "subst" "0" "00006" "PKD1_000522" "g.2142075C>T" "" "{PKDdb:PKD1;W3795X;2136}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092074C>T" "" "pathogenic (dominant)" "" "0000673204" "0" "90" "16" "2142063" "2142064" "del" "0" "00006" "PKD1_001410" "g.2142063_2142064del" "" "{PKDdb:PKD1;11397_11398delGC;2479}" "" "11397_11398delGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092062_2092063del" "" "pathogenic (dominant)" "" "0000673205" "0" "90" "16" "2142060" "2142061" "ins" "0" "00006" "PKD1_001409" "g.2142060_2142061insN[19]" "" "{PKDdb:PKD1;11398_11399ins19;87}" "" "11398_11399ins19" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092059_2092060insN[19]" "" "pathogenic (dominant)" "" "0000673206" "0" "90" "16" "2142050" "2142050" "del" "0" "00006" "PKD1_001408" "g.2142050del" "" "{PKDdb:PKD1;IVS40~1delG;1350}" "" "11411+1delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092049del" "" "pathogenic (dominant)" "" "0000673207" "0" "30" "16" "2142018" "2142031" "del" "0" "00006" "PKD1_001406" "g.2142018_2142031del" "" "{PKDdb:PKD1;IVS40~17_~30del14;1348}" "" "11411+17_+30del" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2092017_2092030del" "" "likely benign" "" "0000673208" "0" "30" "16" "2142030" "2142030" "subst" "0.00107234" "00006" "PKD1_001407" "g.2142030G>A" "" "{PKDdb:PKD1;IVS40~18C%3ET;1349}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2092029G>A" "" "likely benign" "" "0000673209" "0" "30" "16" "2141995" "2141995" "del" "0" "00006" "PKD1_001405" "g.2141995del" "" "{PKDdb:PKD1;IVS40~53delT;1351}" "" "11411+53delT" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091994del" "" "likely benign" "" "0000673210" "0" "30" "16" "2141988" "2141988" "subst" "0" "00006" "PKD1_001404" "g.2141988C>G" "" "{PKDdb:PKD1;IVS40~60G%3EC;1352}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091987C>G" "" "likely benign" "" "0000673211" "0" "30" "16" "2141982" "2141982" "subst" "0" "00006" "PKD1_001403" "g.2141982G>A" "" "{PKDdb:PKD1;IVS40~66C%3ET;1353}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091981G>A" "" "likely benign" "" "0000673212" "0" "30" "16" "2141958" "2141958" "subst" "0.000239218" "00006" "PKD1_001402" "g.2141958C>T" "" "{PKDdb:PKD1;IVS40-51G%3EA;1356}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091957C>T" "" "likely benign" "" "0000673213" "0" "90" "16" "2141909" "2141909" "subst" "0" "00006" "PKD1_001401" "g.2141909T>A" "" "{PKDdb:PKD1;IVS40-2A%3ET;2480}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091908T>A" "" "pathogenic (dominant)" "" "0000673214" "0" "90" "16" "2141908" "2141908" "subst" "0" "00006" "PKD1_001399" "g.2141908C>T" "" "{PKDdb:PKD1;IVS40-1G%3EA;1354}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091907C>T" "" "pathogenic (dominant)" "" "0000673215" "0" "90" "16" "2141908" "2141908" "subst" "0" "00006" "PKD1_001400" "g.2141908C>G" "" "{PKDdb:PKD1;IVS40-1G%3EC;1355}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091907C>G" "" "pathogenic (dominant)" "" "0000673216" "0" "90" "16" "2141902" "2141902" "subst" "0" "00006" "PKD1_000451" "g.2141902C>T" "" "{PKDdb:PKD1;W3806X;2137}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091901C>T" "" "pathogenic (dominant)" "" "0000673217" "0" "90" "16" "2141902" "2141902" "dup" "0" "00006" "PKD1_001398" "g.2141902dup" "" "{PKDdb:PKD1;11418_11419insG;2580}" "" "11418insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091901dup" "" "pathogenic (dominant)" "" "0000673218" "0" "90" "16" "2141896" "2141896" "subst" "0" "00006" "PKD1_000465" "g.2141896C>T" "" "{PKDdb:PKD1;W3808X;2138}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091895C>T" "" "pathogenic (dominant)" "" "0000673219" "0" "70" "16" "2141876" "2141876" "subst" "0" "00006" "PKD1_000068" "g.2141876C>T" "" "{PKDdb:PKD1;D3815N;897}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091875C>T" "" "likely pathogenic (dominant)" "" "0000673220" "0" "70" "16" "2141870" "2141870" "subst" "0" "00006" "PKD1_001397" "g.2141870C>A" "" "{PKDdb:PKD1;G3817W;1053}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091869C>A" "" "likely pathogenic (dominant)" "" "0000673221" "0" "90" "16" "2141870" "2141870" "dup" "0" "00006" "PKD1_001396" "g.2141870dup" "" "{PKDdb:PKD1;11453_11454insG;88}" "" "11453_11454insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091869dup" "" "pathogenic (dominant)" "" "0000673222" "0" "70" "16" "2141863" "2141863" "subst" "0" "00006" "PKD1_001395" "g.2141863T>C" "" "{PKDdb:PKD1;Y3819C;2185}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091862T>C" "" "likely pathogenic (dominant)" "" "0000673223" "0" "90" "16" "2141862" "2141862" "subst" "0" "00006" "PKD1_000010" "g.2141862G>T" "" "{PKDdb:PKD1;Y3819X;2186}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091861G>T" "" "pathogenic (dominant)" "" "0000673224" "0" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PKDdb:PKD1;Q3821X;1710}" "" "" "definitely pathogenic in ADPKDdb; reported in 7 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091857G>A" "" "pathogenic (dominant)" "" "0000673225" "0" "70" "16" "2141854" "2141859" "del" "0" "00006" "PKD1_000082" "g.2141854_2141859del" "" "{PKDdb:PKD1;Q3821_E3822del2;1709}" "" "11461_11466delCAGGAG" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091853_2091858del" "" "likely pathogenic (dominant)" "" "0000673226" "0" "90" "16" "2141853" "2141853" "dup" "0" "00006" "PKD1_000067" "g.2141853dup" "" "{PKDdb:PKD1;11466_11467insG;89}" "" "11466_11467insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091852dup" "" "pathogenic (dominant)" "" "0000673227" "0" "70" "16" "2141851" "2141851" "subst" "0" "00006" "PKD1_001394" "g.2141851A>G" "" "{PKDdb:PKD1;L3823P;2557}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091850A>G" "" "likely pathogenic (dominant)" "" "0000673228" "0" "30" "16" "2141846" "2141846" "subst" "9.8912E-5" "00006" "PKD1_001393" "g.2141846G>A" "" "{PKDdb:PKD1;11473C%3ET;90}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091845G>A" "" "likely benign" "" "0000673229" "0" "70" "16" "2141836" "2141838" "del" "0" "00006" "PKD1_000260" "g.2141836_2141838del" "" "{PKDdb:PKD1;E3828del;949}" "" "11482_11484delGAG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091835_2091837del" "" "likely pathogenic (dominant)" "" "0000673230" "0" "90" "16" "2141837" "2141837" "subst" "0" "00006" "PKD1_001392" "g.2141837C>A" "" "{PKDdb:PKD1;E3828X;2481}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091836C>A" "" "pathogenic (dominant)" "" "0000673231" "0" "90" "16" "2141833" "2141837" "dup" "0" "00006" "PKD1_001391" "g.2141833_2141837dup" "" "{PKDdb:PKD1;11489_11490ins5;91}" "" "11489_11490insGAGAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091832_2091836dup" "" "pathogenic (dominant)" "" "0000673232" "0" "70" "16" "2141818" "2141818" "subst" "0" "00006" "PKD1_000328" "g.2141818A>C" "" "{PKDdb:PKD1;L3834R;1511}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091817A>C" "" "likely pathogenic (dominant)" "" "0000673233" "0" "70" "16" "2141809" "2141809" "subst" "0" "00006" "PKD1_001390" "g.2141809A>C" "" "{PKDdb:PKD1;L3837R;1512}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091808A>C" "" "likely pathogenic (dominant)" "" "0000673234" "0" "90" "16" "2141807" "2141807" "subst" "0" "00006" "PKD1_000005" "g.2141807G>A" "" "{PKDdb:PKD1;Q3838X;1711}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091806G>A" "" "pathogenic (dominant)" "" "0000673235" "0" "30" "16" "2141799" "2141799" "subst" "4.29594E-6" "00006" "PKD1_001389" "g.2141799G>T" "" "{PKDdb:PKD1;H3840Q;1088}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091798G>T" "" "likely benign" "" "0000673236" "0" "90" "16" "2141798" "2141799" "ins" "0" "00006" "PKD1_001388" "g.2141798_2141799insN[15]" "" "{PKDdb:PKD1;H3840_N3841ins5;1087}" "" "11520_1521ins15" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091797_2091798insN[15]" "" "pathogenic (dominant)" "" "0000673237" "0" "30" "16" "2141796" "2141796" "subst" "0.00162928" "00006" "PKD1_001387" "g.2141796G>A" "" "{PKDdb:PKD1;11523C%3ET;93}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091795G>A" "" "likely benign" "" "0000673238" "0" "70" "16" "2141794" "2141794" "subst" "0" "00006" "PKD1_001386" "g.2141794C>G" "" "{PKDdb:PKD1;W3842S;2140}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091793C>G" "" "likely pathogenic (dominant)" "" "0000673239" "0" "90" "16" "2141794" "2141794" "subst" "0" "00006" "PKD1_000327" "g.2141794C>T" "" "{PKDdb:PKD1;W3842X;2141}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091793C>T" "" "pathogenic (dominant)" "" "0000673240" "0" "90" "16" "2141781" "2141781" "subst" "0" "00006" "PKD1_001385" "g.2141781C>A" "" "{PKDdb:PKD1;IVS41~1G%3ET;2482}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091780C>A" "" "pathogenic (dominant)" "" "0000673241" "0" "90" "16" "2141780" "2141780" "subst" "0" "00006" "PKD1_001384" "g.2141780A>C" "" "{PKDdb:PKD1;IVS41~2T%3EG;1359}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091779A>C" "" "pathogenic (dominant)" "" "0000673242" "0" "30" "16" "2141777" "2141779" "dup" "0" "00006" "PKD1_000081" "g.2141777_2141779dup" "" "{PKDdb:PKD1;IVS41~5_~6insGGG;1361}" "" "11537+5_+6insGGG" "reported in 9 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091776_2091778dup" "" "likely benign" "" "0000673243" "0" "30" "16" "2141776" "2141778" "dup" "0" "00006" "PKD1_001383" "g.2141776_2141778dup" "" "{PKDdb:PKD1;IVS41~7_~8insGAG;1362}" "" "11537+7_+8insGAG" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091775_2091777dup" "" "likely benign" "" "0000673244" "0" "30" "16" "2141765" "2141765" "subst" "0.00118401" "00006" "PKD1_001382" "g.2141765G>A" "" "{PKDdb:PKD1;IVS41~17C%3ET;1357}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091764G>A" "" "likely benign" "" "0000673245" "0" "30" "16" "2141762" "2141762" "subst" "0.00132548" "00006" "PKD1_001381" "g.2141762G>A" "" "{PKDdb:PKD1;IVS41~20C%3ET;1358}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091761G>A" "" "likely benign" "" "0000673246" "0" "30" "16" "2141754" "2141754" "del" "0" "00006" "PKD1_001380" "g.2141754del" "" "{PKDdb:PKD1;IVS41~31delG;1360}" "" "11537+31delG" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091753del" "" "likely benign" "" "0000673247" "0" "30" "16" "2141653" "2141653" "subst" "0" "00006" "PKD1_001379" "g.2141653A>C" "" "{PKDdb:PKD1;IVS41-55T%3EG;1366}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091652A>C" "" "likely benign" "" "0000673248" "0" "30" "16" "2141652" "2141652" "subst" "0" "00006" "PKD1_001378" "g.2141652G>C" "" "{PKDdb:PKD1;IVS41-54C%3EG;1365}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091651G>C" "" "likely benign" "" "0000673249" "0" "30" "16" "2141609" "2141609" "subst" "0.00151542" "00006" "PKD1_002850" "g.2141609G>A" "" "{PKDdb:PKD1;IVS41-11C%3ET;1364}" "" "" "reported in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091608G>A" "" "likely benign" "" "0000673250" "0" "70" "16" "2141608" "2141608" "subst" "0.000118869" "00006" "PKD1_001377" "g.2141608G>T" "" "{PKDdb:PKD1;IVS41-10C%3EA;1363}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091607G>T" "" "likely pathogenic (dominant)" "" "0000673251" "0" "90" "16" "2141600" "2141600" "subst" "0" "00006" "PKD1_001376" "g.2141600T>C" "" "{PKDdb:PKD1;IVS41-2A%3EG;2484}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091599T>C" "" "pathogenic (dominant)" "" "0000673252" "0" "90" "16" "2141599" "2141599" "subst" "0" "00006" "PKD1_001375" "g.2141599C>T" "" "{PKDdb:PKD1;IVS41-1G%3EA;2483}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091598C>T" "" "pathogenic (dominant)" "" "0000673253" "0" "90" "16" "2141583" "2141583" "del" "0" "00006" "PKD1_000767" "g.2141583del" "" "{PKDdb:PKD1;11554delC;2272}" "" "11554delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091582del" "" "pathogenic (dominant)" "" "0000673254" "0" "70" "16" "2141581" "2141581" "subst" "0" "00006" "PKD1_000106" "g.2141581A>G" "" "{PKDdb:PKD1;L3852P;1513}" "" "" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091580A>G" "" "likely pathogenic (dominant)" "" "0000673255" "0" "70" "16" "2141579" "2141579" "subst" "0" "00006" "PKD1_001374" "g.2141579C>T" "" "{PKDdb:PKD1;E3853K;950}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091578C>T" "" "likely pathogenic (dominant)" "" "0000673256" "0" "90" "16" "2141548" "2141548" "dup" "0" "00006" "PKD1_001373" "g.2141548dup" "" "{PKDdb:PKD1;11588_11589insT;2581}" "" "11588_11589insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091547dup" "" "pathogenic (dominant)" "" "0000673257" "0" "30" "16" "2141541" "2141541" "subst" "0" "00006" "PKD1_001372" "g.2141541G>A" "" "{PKDdb:PKD1;11595C%3ET;94}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091540G>A" "" "likely benign" "" "0000673258" "0" "90" "16" "2141504" "2141529" "del" "0" "00006" "PKD1_000573" "g.2141504_2141529del" "" "{PKDdb:PKD1;11612_11637del26;95}" "" "11612_11637delTCGAGT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091503_2091528del" "" "pathogenic (dominant)" "" "0000673259" "0" "70" "16" "2141522" "2141522" "subst" "0" "00006" "PKD1_001371" "g.2141522C>G" "" "{PKDdb:PKD1;E3872Q;951}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091521C>G" "" "likely pathogenic (dominant)" "" "0000673260" "0" "90" "16" "2141522" "2141522" "subst" "0" "00006" "PKD1_000429" "g.2141522C>A" "" "{PKDdb:PKD1;E3872X;952}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091521C>A" "" "pathogenic (dominant)" "" "0000673261" "0" "30" "16" "2141520" "2141520" "subst" "0.00138194" "00006" "PKD1_001370" "g.2141520C>T" "" "{PKDdb:PKD1;11616G%3EA;96}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091519C>T" "" "likely benign" "" "0000673262" "0" "90" "16" "2141517" "2141517" "del" "0" "00006" "PKD1_000326" "g.2141517del" "" "{PKDdb:PKD1;11621delC;97}" "" "11621delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091516del" "" "pathogenic (dominant)" "" "0000673263" "0" "90" "16" "2141491" "2141513" "del" "0" "00006" "PKD1_001366" "g.2141491_2141513del" "" "{PKDdb:PKD1;11623_11645del22;98}" "" "11623_11645del (Ala3875fs62X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091490_2091512del" "" "pathogenic (dominant)" "" "0000673264" "0" "30" "16" "2141509" "2141509" "subst" "0" "00006" "PKD1_001369" "g.2141509G>A" "" "{PKDdb:PKD1;A3876V;833}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091508G>A" "" "likely benign" "" "0000673265" "0" "90" "16" "2141509" "2141509" "del" "0" "00006" "PKD1_001368" "g.2141509del" "" "{PKDdb:PKD1;11628delC;99}" "" "11628delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091508del" "" "pathogenic (dominant)" "" "0000673266" "0" "90" "16" "2141507" "2141507" "del" "0" "00006" "PKD1_001367" "g.2141507del" "" "{PKDdb:PKD1;11630delG;2485}" "" "11630delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091506del" "" "pathogenic (dominant)" "" "0000673267" "0" "30" "16" "2141484" "2141484" "subst" "0.000643766" "00006" "PKD1_001365" "g.2141484G>A" "" "{PKDdb:PKD1;11652C%3ET;100}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091483G>A" "" "likely benign" "" "0000673268" "0" "70" "16" "2141482" "2141482" "subst" "0" "00006" "PKD1_001364" "g.2141482A>C" "" "{PKDdb:PKD1;V3885G;2077}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091481A>C" "" "likely pathogenic (dominant)" "" "0000673269" "0" "90" "16" "2141482" "2141494" "dup" "0" "00006" "PKD1_001362" "g.2141482_2141494dup" "" "{PKDdb:PKD1;11660_11661ins13;2486}" "" "11660_11661insTCAGCGTCCGCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091481_2091493dup" "" "pathogenic (dominant)" "" "0000673270" "0" "90" "16" "2141478" "2141505" "dup" "0" "00006" "PKD1_001363" "g.2141478_2141505dup" "" "{PKDdb:PKD1;11660_11661ins28;2582}" "" "11660_11661insGCGCCCTGGCCGCCCTCAGCGTCCGCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091477_2091504dup" "" "pathogenic (dominant)" "" "0000673271" "0" "90" "16" "2141468" "2141472" "dup" "0" "00006" "PKD1_001361" "g.2141468_2141472dup" "" "{PKDdb:PKD1;11673_11674ins5;101}" "" "11673_11674insTGCGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091467_2091471dup" "" "pathogenic (dominant)" "" "0000673272" "0" "30" "16" "2141454" "2141454" "subst" "0.017369" "00006" "PKD1_000766" "g.2141454G>A" "" "{PKDdb:PKD1;11682C%3ET;102}" "" "" "reported in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091453G>A" "" "likely benign" "" "0000673273" "0" "30" "16" "2141447" "2141447" "subst" "0.000930233" "00006" "PKD1_000572" "g.2141447G>A" "" "{PKDdb:PKD1;L3897F;1514}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091446G>A" "" "likely benign" "" "0000673274" "0" "90" "16" "2141443" "2141443" "subst" "0" "00006" "PKD1_000521" "g.2141443G>T" "" "{PKDdb:PKD1;S3898X;1971}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091442G>T" "" "pathogenic (dominant)" "" "0000673275" "0" "30" "16" "2141436" "2141436" "subst" "0" "00006" "PKD1_001360" "g.2141436A>G" "" "{PKDdb:PKD1;11700T%3EC;103}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091435A>G" "" "likely benign" "" "0000673276" "0" "90" "16" "2141433" "2141433" "dup" "0" "00006" "PKD1_001359" "g.2141433dup" "" "{PKDdb:PKD1;11703_11704insG;104}" "" "11703_11704insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091432dup" "" "pathogenic (dominant)" "" "0000673277" "0" "50" "16" "2141425" "2141425" "subst" "0" "00006" "PKD1_001357" "g.2141425G>A" "" "{PKDdb:PKD1;S3904L;1972}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091424G>A" "" "VUS" "" "0000673278" "0" "50" "16" "2141425" "2141425" "subst" "0" "00006" "PKD1_001358" "g.2141425G>C" "" "{PKDdb:PKD1;S3904W;2622}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091424G>C" "" "VUS" "" "0000673280" "0" "30" "16" "2141416" "2141416" "subst" "0" "00006" "PKD1_001356" "g.2141416G>A" "" "{PKDdb:PKD1;IVS42~8C%3ET;1370}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091415G>A" "" "likely benign" "" "0000673281" "0" "30" "16" "2141396" "2141396" "subst" "0.203125" "00006" "PKD1_001355" "g.2141396C>G" "" "{PKDdb:PKD1;IVS42~28G%3EC;1367}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091395C>G" "" "likely benign" "" "0000673282" "0" "30" "16" "2141395" "2141395" "subst" "0.037037" "00006" "PKD1_001354" "g.2141395G>A" "" "{PKDdb:PKD1;IVS42~29C%3ET;1368}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091394G>A" "" "likely benign" "" "0000673283" "0" "30" "16" "2141391" "2141391" "subst" "0" "00006" "PKD1_001353" "g.2141391G>T" "" "{PKDdb:PKD1;IVS42~33C%3EA;1369}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091390G>T" "" "likely benign" "" "0000673284" "0" "50" "16" "2141184" "2141184" "subst" "0.00047083" "00006" "PKD1_001352" "g.2141184G>T" "" "{PKDdb:PKD1;IVS42-9C%3EA;1374}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091183G>T" "" "VUS" "" "0000673285" "0" "70" "16" "2141182" "2141182" "subst" "0" "00006" "PKD1_001351" "g.2141182G>C" "" "{PKDdb:PKD1;IVS42-7C%3EG;1373}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091181G>C" "" "likely pathogenic (dominant)" "" "0000673286" "0" "30" "16" "2141178" "2141178" "subst" "0.000125215" "00006" "PKD1_001350" "g.2141178G>A" "" "{PKDdb:PKD1;IVS42-3C%3ET;1371}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091177G>A" "" "likely benign" "" "0000673287" "0" "30" "16" "2141171" "2141171" "subst" "0.00106505" "00006" "PKD1_000812" "g.2141171C>A" "" "{PKDdb:PKD1;C3906F;874}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091170C>A" "" "likely benign" "" "0000673288" "0" "90" "16" "2141103" "2141171" "del" "0" "00006" "PKD1_001343" "g.2141103_2141171del" "" "{PKDdb:PKD1;Leu3907_Arg3929del23;1545}" "" "11719_11787del69" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091102_2091170del" "" "pathogenic (dominant)" "" "0000673289" "0" "90" "16" "2141166" "2141166" "dup" "0" "00006" "PKD1_001349" "g.2141166dup" "" "{PKDdb:PKD1;11722_11723insC;105}" "" "11722_11723insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091165dup" "" "pathogenic (dominant)" "" "0000673290" "0" "70" "16" "2141165" "2141165" "subst" "0" "00006" "PKD1_000324" "g.2141165A>C" "" "{PKDdb:PKD1;L3908R;1515}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091164A>C" "" "likely pathogenic (dominant)" "" "0000673291" "0" "30" "16" "2141155" "2141155" "subst" "0" "00006" "PKD1_001348" "g.2141155G>T" "" "{PKDdb:PKD1;11733C%3EA;106}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091154G>T" "" "likely benign" "" "0000673292" "0" "90" "16" "2141144" "2141144" "del" "0" "00006" "PKD1_001347" "g.2141144del" "" "{PKDdb:PKD1;11745delC;2487}" "" "11745delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091143del" "" "pathogenic (dominant)" "" "0000673293" "0" "90" "16" "2141136" "2141136" "subst" "0" "00006" "PKD1_000450" "g.2141136C>A" "" "{PKDdb:PKD1;E3918X;953}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091135C>A" "" "pathogenic (dominant)" "" "0000673294" "0" "90" "16" "2141122" "2141122" "subst" "0" "00006" "PKD1_000323" "g.2141122C>T" "" "{PKDdb:PKD1;W3922X;2142}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2091121C>T" "" "pathogenic (dominant)" "" "0000673295" "0" "90" "16" "2141117" "2141117" "del" "0" "00006" "PKD1_001346" "g.2141117del" "" "{PKDdb:PKD1;11773delG;2488}" "" "11773delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091116del" "" "pathogenic (dominant)" "" "0000673296" "0" "50" "16" "2141114" "2141114" "subst" "9.72025E-6" "00006" "PKD1_001345" "g.2141114T>G" "" "{PKDdb:PKD1;E3925A;954}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091113T>G" "" "VUS" "" "0000673297" "0" "90" "16" "2141105" "2141105" "subst" "0" "00006" "PKD1_001344" "g.2141105C>T" "" "{PKDdb:PKD1;W3928X;2489}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091104C>T" "" "pathogenic (dominant)" "" "0000673298" "0" "30" "16" "2141089" "2141089" "subst" "0.000162852" "00006" "PKD1_001342" "g.2141089G>A" "" "{PKDdb:PKD1;11799C%3ET;108}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091088G>A" "" "likely benign" "" "0000673299" "0" "90" "16" "2141089" "2141089" "del" "0" "00006" "PKD1_000322" "g.2141089del" "" "{PKDdb:PKD1;11799delC;109}" "" "11799delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091088del" "" "pathogenic (dominant)" "" "0000673300" "0" "90" "16" "2141086" "2141087" "del" "0" "00006" "PKD1_001341" "g.2141086_2141087del" "" "{PKDdb:PKD1;11802_11803delAG;2490}" "" "11802_11803delAG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091085_2091086del" "" "pathogenic (dominant)" "" "0000673301" "0" "30" "16" "2141074" "2141074" "subst" "0" "00006" "PKD1_001340" "g.2141074C>G" "" "{PKDdb:PKD1;11814G%3EC;111}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091073C>G" "" "likely benign" "" "0000673302" "0" "70" "16" "2141057" "2141057" "subst" "0" "00006" "PKD1_001339" "g.2141057A>G" "" "{PKDdb:PKD1;L3944P;1516}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091056A>G" "" "likely pathogenic (dominant)" "" "0000673303" "0" "90" "16" "2140945" "2141045" "del" "0" "00006" "PKD1_001326" "g.2140945_2141045del" "" "{PKDdb:PKD1;11844_11944del101;112}" "" "11844_11944del101" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090944_2091044del" "" "pathogenic (dominant)" "" "0000673304" "0" "90" "16" "2141031" "2141032" "ins" "0" "00006" "PKD1_001338" "g.2141031_2141032insN[19]" "" "{PKDdb:PKD1;11856_11857ins19;113}" "" "11856_11857ins19" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091030_2091031insN[19]" "" "pathogenic (dominant)" "" "0000673305" "0" "50" "16" "2141028" "2141028" "subst" "0" "00006" "PKD1_000250" "g.2141028C>G" "" "{PKDdb:PKD1;A3954P;834}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091027C>G" "" "VUS" "" "0000673306" "0" "90" "16" "2141025" "2141025" "subst" "0" "00006" "PKD1_000321" "g.2141025G>A" "" "{PKDdb:PKD1;Q3955X;1713}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091024G>A" "" "pathogenic (dominant)" "" "0000673307" "0" "30" "16" "2141024" "2141024" "subst" "0" "00006" "PKD1_001337" "g.2141024T>C" "" "{PKDdb:PKD1;Q3955R;1712}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091023T>C" "" "likely benign" "" "0000673308" "0" "30" "16" "2141022" "2141022" "subst" "0" "00006" "PKD1_001336" "g.2141022G>A" "" "{PKDdb:PKD1;11866C%3ET;115}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091021G>A" "" "likely benign" "" "0000673309" "0" "50" "16" "2141021" "2141021" "subst" "0" "00006" "PKD1_001335" "g.2141021A>C" "" "{PKDdb:PKD1;L3956R;1517}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091020A>C" "" "VUS" "" "0000673310" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "00006" "PKD1_000567" "g.2141018C>T" "" "{PKDdb:PKD1;G3957D;1058}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091017C>T" "" "likely benign" "" "0000673311" "0" "90" "16" "2141004" "2141004" "subst" "0" "00006" "PKD1_000566" "g.2141004G>A" "" "{PKDdb:PKD1;Q3962X;1714}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091003G>A" "" "pathogenic (dominant)" "" "0000673312" "0" "90" "16" "2141003" "2141003" "del" "0" "00006" "PKD1_001334" "g.2141003del" "" "{PKDdb:PKD1;11885delA;2273}" "" "11885delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091002del" "" "pathogenic (dominant)" "" "0000673313" "0" "70" "16" "2141001" "2141001" "subst" "0" "00006" "PKD1_001333" "g.2141001A>G" "" "{PKDdb:PKD1;W3963R;2143}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2091000A>G" "" "likely pathogenic (dominant)" "" "0000673314" "0" "50" "16" "2140995" "2140995" "subst" "0" "00006" "PKD1_001332" "g.2140995G>T" "" "{PKDdb:PKD1;R3965S;1871}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090994G>T" "" "VUS" "" "0000673315" "0" "90" "16" "2140962" "2140979" "del" "0" "00006" "PKD1_001328" "g.2140962_2140979del" "" "{PKDdb:PKD1;P3971_S3976del6;2491}" "" "11909_11926delGCCCGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090961_2090978del" "" "pathogenic (dominant)" "" "0000673316" "0" "30" "16" "2140978" "2140978" "subst" "0" "00006" "PKD1_001331" "g.2140978G>A" "" "{PKDdb:PKD1;11910C%3ET;116}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090977G>A" "" "likely benign" "" "0000673317" "0" "30" "16" "2140972" "2140972" "subst" "0.000681158" "00006" "PKD1_001330" "g.2140972G>C" "" "{PKDdb:PKD1;11916C%3EG;117}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090971G>C" "" "likely benign" "" "0000673318" "0" "30" "16" "2140972" "2140972" "subst" "0.0202177" "00006" "PKD1_000765" "g.2140972G>A" "" "{PKDdb:PKD1;11916C%3ET;118}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090971G>A" "" "likely benign" "" "0000673319" "0" "70" "16" "2140961" "2140961" "subst" "0" "00006" "PKD1_001329" "g.2140961C>A" "" "{PKDdb:PKD1;S3976I;1973}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090960C>A" "" "likely pathogenic (dominant)" "" "0000673320" "0" "30" "16" "2140954" "2140954" "subst" "0.000910853" "00006" "PKD1_001327" "g.2140954G>A" "" "{PKDdb:PKD1;11934C%3ET;119}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090953G>A" "" "likely benign" "" "0000673321" "0" "90" "16" "2140953" "2140953" "subst" "0" "00006" "PKD1_000464" "g.2140953G>A" "" "{PKDdb:PKD1;Q3979X;1715}" "" "" "definitely pathogenic in ADPKDdb; reported in 5 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090952G>A" "" "pathogenic (dominant)" "" "0000673322" "0" "90" "16" "2140926" "2140950" "del" "0" "00006" "PKD1_001323" "g.2140926_2140950del" "" "{PKDdb:PKD1;11943_11967del25bp;122}" "" "11943_11967del25" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090925_2090949del" "" "pathogenic (dominant)" "" "0000673323" "0" "90" "16" "2140944" "2140944" "subst" "0" "00006" "PKD1_000320" "g.2140944G>A" "" "{PKDdb:PKD1;Q3982X;1716}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090943G>A" "" "pathogenic (dominant)" "" "0000673324" "0" "30" "16" "2140928" "2140928" "subst" "1.62769E-5" "00006" "PKD1_001325" "g.2140928G>C" "" "{PKDdb:PKD1;A3987G;835}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090927G>C" "" "likely benign" "" "0000673325" "0" "30" "16" "2140927" "2140927" "subst" "0.00453887" "00006" "PKD1_001324" "g.2140927G>A" "" "{PKDdb:PKD1;11961C%3ET;123}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090926G>A" "" "likely benign" "" "0000673326" "0" "90" "16" "2140916" "2140916" "del" "0" "00006" "PKD1_001321" "g.2140916del" "" "{PKDdb:PKD1;11972delC;124}" "" "11972delC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090915del" "" "pathogenic (dominant)" "" "0000673327" "0" "50" "16" "2140916" "2140916" "subst" "0" "00006" "PKD1_001322" "g.2140916G>A" "" "{PKDdb:PKD1;A3991V;836}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090915G>A" "" "VUS" "" "0000673328" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "00006" "PKD1_000810" "g.2140912G>C" "" "{PKDdb:PKD1;11976C%3EG;125}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090911G>C" "" "likely benign" "" "0000673329" "0" "70" "16" "2140900" "2140908" "dup" "0" "00006" "PKD1_000089" "g.2140900_2140908dup" "" "{PKDdb:PKD1;F3996_L3997insLLF;992}" "" "11988_11989insCTGCTCTTC" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090899_2090907dup" "" "likely pathogenic (dominant)" "" "0000673330" "0" "90" "16" "2140884" "2140884" "subst" "0" "00006" "PKD1_001320" "g.2140884C>T" "" "{PKDdb:PKD1;IVS43~1G%3EA;2492}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090883C>T" "" "pathogenic (dominant)" "" "0000673331" "0" "90" "16" "2140883" "2140883" "subst" "0" "00006" "PKD1_001318" "g.2140883A>C" "" "{PKDdb:PKD1;IVS43~2T%3EG;1378}" "" "IVS43+2T>G" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090882A>C" "" "pathogenic (dominant)" "" "0000673332" "0" "70" "16" "2140861" "2140880" "del" "0" "00006" "PKD1_001319" "g.2140861_2140880del" "" "{PKDdb:PKD1;IVS43~14_~33del20;1376}" "" "IVS43+14_+33del20" "highly likely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090860_2090879del" "" "likely pathogenic (dominant)" "" "0000673333" "0" "70" "16" "2140851" "2140868" "del" "0" "00006" "PKD1_001318" "g.2140851_2140868del" "" "{PKDdb:PKD1;IVS43~17_~34del18;1377}" "" "IVS43+17_+34del18" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2090850_2090867del" "" "likely pathogenic (dominant)" "" "0000673334" "0" "30" "16" "2140847" "2140847" "subst" "0" "00006" "PKD1_001317" "g.2140847T>G" "" "{PKDdb:PKD1;IVS43~38A%3EC;1379}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090846T>G" "" "likely benign" "" "0000673335" "0" "30" "16" "2140843" "2140843" "subst" "0.0207999" "00006" "PKD1_000920" "g.2140843G>T" "" "{PKDdb:PKD1;IVS43~42C%3EA;1380}" "" "" "reported in 3 papers\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2090842G>T" "" "likely benign" "" "0000673336" "0" "30" "16" "2140843" "2140843" "subst" "0.0207999" "00006" "PKD1_000920" "g.2140843G>T" "" "{PKDdb:PKD1;IVS43-34C%3EA;1382}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090842G>T" "" "likely benign" "" "0000673337" "0" "90" "16" "2140811" "2140811" "subst" "0" "00006" "PKD1_001316" "g.2140811T>C" "" "{PKDdb:PKD1;IVS43-2A%3EG;2493}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090810T>C" "" "pathogenic (dominant)" "" "0000673338" "0" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "00006" "PKD1_000269" "g.2140803G>A" "" "{PKDdb:PKD1;Q4004X;1717}" "" "" "definitely pathogenic in ADPKDdb; reported in 6 families in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090802G>A" "" "pathogenic (dominant)" "" "0000673339" "0" "90" "16" "2140800" "2140800" "subst" "0" "00006" "PKD1_000055" "g.2140800G>A" "" "{PKDdb:PKD1;Q4005X;1718}" "" "" "definitely pathogenic in ADPKDdb; reported in 5 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090799G>A" "" "pathogenic (dominant)" "" "0000673340" "0" "70" "16" "2140794" "2140794" "subst" "1.66142E-5" "00006" "PKD1_001315" "g.2140794G>A" "" "{PKDdb:PKD1;R4007C;1872}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090793G>A" "" "likely pathogenic (dominant)" "" "0000673341" "0" "50" "16" "2140791" "2140791" "subst" "0" "00006" "PKD1_001314" "g.2140791A>G" "" "{PKDdb:PKD1;F4008L;993}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090790A>G" "" "VUS" "" "0000673342" "0" "90" "16" "2140782" "2140782" "subst" "0" "00006" "PKD1_000044" "g.2140782G>A" "" "{PKDdb:PKD1;Q4011X;1719}" "" "" "definitely pathogenic in ADPKDdb; reported in 6 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090781G>A" "" "pathogenic (dominant)" "" "0000673343" "0" "90" "16" "2140778" "2140778" "subst" "4.13781E-6" "00006" "PKD1_000565" "g.2140778C>T" "" "{PKDdb:PKD1;W4012X (12035G%3EA);2654}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090777C>T" "" "pathogenic (dominant)" "" "0000673344" "0" "90" "16" "2140777" "2140777" "subst" "0" "00006" "PKD1_000033" "g.2140777C>T" "" "{PKDdb:PKD1;W4012X (12036G%3EA);2144}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090776C>T" "" "pathogenic (dominant)" "" "0000673345" "0" "90" "16" "2140769" "2140770" "del" "0" "00006" "PKD1_000065" "g.2140769_2140770del" "" "{PKDdb:PKD1;12044_12045delTT;126}" "" "12044_12045delTT" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090768_2090769del" "" "pathogenic (dominant)" "" "0000673346" "0" "30" "16" "2140759" "2140759" "subst" "8.24817E-6" "00006" "PKD1_001313" "g.2140759T>C" "" "{PKDdb:PKD1;12054A%3EG;128}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090758T>C" "" "likely benign" "" "0000673347" "0" "90" "16" "2140758" "2140759" "del" "0" "00006" "PKD1_000043" "g.2140758_2140759del" "" "{PKDdb:PKD1;12054_12055delAT;127}" "" "12054_12055delAT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090757_2090758del" "" "pathogenic (dominant)" "" "0000673348" "0" "90" "16" "2140757" "2140757" "subst" "0" "00006" "PKD1_000449" "g.2140757A>C" "" "{PKDdb:PKD1;L4019X;1518}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090756A>C" "" "pathogenic (dominant)" "" "0000673349" "0" "90" "16" "2140752" "2140752" "subst" "0" "00006" "PKD1_000011" "g.2140752G>A" "" "{PKDdb:PKD1;R4021X;1874}" "" "" "definitely pathogenic in ADPKDdb; reported in 7 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090751G>A" "" "pathogenic (dominant)" "" "0000673350" "0" "90" "16" "2140740" "2140740" "subst" "0" "00006" "PKD1_000042" "g.2140740C>A" "" "{PKDdb:PKD1;E4025X;955}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090739C>A" "" "pathogenic (dominant)" "" "0000673351" "0" "30" "16" "2140738" "2140738" "subst" "0.00124692" "00006" "PKD1_001312" "g.2140738C>T" "" "{PKDdb:PKD1;12075G%3EA;129}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090737C>T" "" "likely benign" "" "0000673352" "0" "30" "16" "2140735" "2140735" "subst" "0.000255161" "00006" "PKD1_001311" "g.2140735G>A" "" "{PKDdb:PKD1;12078C%3ET;130}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090734G>A" "" "likely benign" "" "0000673353" "0" "30" "16" "2140734" "2140734" "subst" "6.58355E-5" "00006" "PKD1_001310" "g.2140734G>A" "" "{PKDdb:PKD1;12079C%3ET;131}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090733G>A" "" "likely benign" "" "0000673354" "0" "90" "16" "2140732" "2140732" "dup" "0" "00006" "PKD1_000064" "g.2140732dup" "" "{PKDdb:PKD1;12085_12086insG;132}" "" "12085_12086insG" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090731dup" "" "pathogenic (dominant)" "" "0000673355" "0" "90" "16" "2140693" "2140729" "del" "0" "00006" "PKD1_001306" "g.2140693_2140729del" "" "{PKDdb:PKD1;12085_12121del37;2494}" "" "12085_12121del37" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090692_2090728del" "" "pathogenic (dominant)" "" "0000673356" "0" "50" "16" "2140728" "2140728" "subst" "4.11631E-6" "00006" "PKD1_001309" "g.2140728C>T" "" "{PKDdb:PKD1;V4029I;2078}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090727C>T" "" "VUS" "" "0000673357" "0" "50" "16" "2140718" "2140718" "subst" "0.00012346" "00006" "PKD1_000041" "g.2140718C>T" "" "{PKDdb:PKD1;G4032D;1059}" "" "" "indeterminate in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090717C>T" "" "VUS" "" "0000673358" "0" "30" "16" "2140714" "2140714" "subst" "1.23426E-5" "00006" "PKD1_001308" "g.2140714C>G" "" "{PKDdb:PKD1;12099G%3EC;133}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090713C>G" "" "likely benign" "" "0000673359" "0" "30" "16" "2140705" "2140705" "subst" "9.06125E-5" "00006" "PKD1_001307" "g.2140705G>A" "" "{PKDdb:PKD1;12108C%3ET;135}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090704G>A" "" "likely benign" "" "0000673360" "0" "90" "16" "2140693" "2140693" "subst" "0" "00006" "PKD1_000109" "g.2140693G>T" "" "{PKDdb:PKD1;Y4040X;2189}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090692G>T" "" "pathogenic (dominant)" "" "0000673361" "0" "90" "16" "2140689" "2140689" "subst" "0" "00006" "PKD1_000003" "g.2140689G>A" "" "{PKDdb:PKD1;Q4042X;1720}" "" "" "definitely pathogenic in ADPKDdb; reported in 9 families in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090688G>A" "" "pathogenic (dominant)" "" "0000673362" "0" "30" "16" "2140680" "2140680" "subst" "0.181408" "00006" "PKD1_000764" "g.2140680T>C" "" "{PKDdb:PKD1;I4045V;1102}" "" "" "reported in 13 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090679T>C" "" "likely benign" "" "0000673363" "0" "90" "16" "2140674" "2140674" "subst" "0" "00006" "PKD1_001305" "g.2140674C>T" "" "{PKDdb:PKD1;IVS44~1G%3EA;1384}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090673C>T" "" "pathogenic (dominant)" "" "0000673364" "0" "90" "16" "2140674" "2140674" "subst" "0" "00006" "PKD1_000001" "g.2140674C>G" "" "{PKDdb:PKD1;IVS44~1G%3EC;1385}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090673C>G" "" "pathogenic (dominant)" "" "0000673365" "0" "90" "16" "2140673" "2140673" "subst" "0" "00006" "PKD1_001303" "g.2140673A>G" "" "{PKDdb:PKD1;IVS44~2T%3EC;1387}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090672A>G" "" "pathogenic (dominant)" "" "0000673366" "0" "90" "16" "2140673" "2140673" "subst" "0" "00006" "PKD1_001304" "g.2140673A>C" "" "{PKDdb:PKD1;IVS44~2T%3EG;2495}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090672A>C" "" "pathogenic (dominant)" "" "0000673367" "0" "70" "16" "2140672" "2140675" "del" "0" "00006" "PKD1_001302" "g.2140672_2140675del" "" "{PKDdb:PKD1;IVS44~3_~6delAGGT;1388}" "" "12138+3_+6delAGGT" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090671_2090674del" "" "likely pathogenic (dominant)" "" "0000673368" "0" "30" "16" "2140658" "2140658" "subst" "0.000149722" "00006" "PKD1_001301" "g.2140658G>A" "" "{PKDdb:PKD1;IVS44~17C%3ET;1383}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090657G>A" "" "likely benign" "" "0000673369" "0" "30" "16" "2140656" "2140656" "del" "0" "00006" "PKD1_001300" "g.2140656del" "" "{PKDdb:PKD1;IVS44~22delG;1386}" "" "12138+22delG" "reported in 12 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090655del" "" "likely benign" "" "0000673370" "0" "30" "16" "2140638" "2140639" "ins" "0" "00006" "PKD1_001299" "g.2140638_2140639insN[5]" "" "{PKDdb:PKD1;IVS44~37ins5;1389}" "" "12138+37ins5" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090637_2090638insN[5]" "" "likely benign" "" "0000673371" "0" "30" "16" "2140631" "2140631" "subst" "0" "00006" "PKD1_001298" "g.2140631G>T" "" "{PKDdb:PKD1;IVS44~44C%3EA;1390}" "" "12138+44C>A" "variant decription not correct; reported in 1 paper\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2090630G>T" "" "likely benign" "" "0000673372" "0" "30" "16" "2140596" "2140596" "subst" "0.000565692" "00006" "PKD1_002855" "g.2140596G>A" "" "{PKDdb:PKD1;IVS44-5C%3ET;1395}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090595G>A" "" "likely benign" "" "0000673373" "0" "30" "16" "2140594" "2140594" "subst" "2.53342E-5" "00006" "PKD1_001296" "g.2140594G>A" "" "{PKDdb:PKD1;IVS44-3C%3ET;1394}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090593G>A" "" "likely benign" "" "0000673374" "0" "70" "16" "2140594" "2140594" "subst" "0" "00006" "PKD1_001297" "g.2140594G>C" "" "{PKDdb:PKD1;IVS44-3C%3EG;1393}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090593G>C" "" "likely pathogenic (dominant)" "" "0000673375" "0" "90" "16" "2140593" "2140593" "subst" "0" "00006" "PKD1_001295" "g.2140593T>G" "" "{PKDdb:PKD1;IVS44-2A%3EC;1392}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090592T>G" "" "pathogenic (dominant)" "" "0000673376" "0" "90" "16" "2140592" "2140592" "subst" "0" "00006" "PKD1_001293" "g.2140592C>T" "" "{PKDdb:PKD1;IVS44-1G%3EA;2496}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090591C>T" "" "pathogenic (dominant)" "" "0000673377" "0" "90" "16" "2140592" "2140592" "subst" "0" "00006" "PKD1_001294" "g.2140592C>G" "" "{PKDdb:PKD1;IVS44-1G%3EC;1391}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090591C>G" "" "pathogenic (dominant)" "" "0000673378" "0" "90" "16" "2140579" "2140588" "del" "0" "00006" "PKD1_000249" "g.2140579_2140588del" "" "{PKDdb:PKD1;12146_12155del10;136}" "" "12146_12155delCTTCCT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090578_2090587del" "" "pathogenic (dominant)" "" "0000673379" "0" "30" "16" "2140577" "2140577" "subst" "8.43953E-6" "00006" "PKD1_001292" "g.2140577A>G" "" "{PKDdb:PKD1;12153T%3EC;137}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090576A>G" "" "likely benign" "" "0000673380" "0" "90" "16" "2140578" "2140579" "del" "0" "00006" "PKD1_001291" "g.2140578_2140579del" "" "{PKDdb:PKD1;12155_12156delTG;138}" "" "12155_12156delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090577_2090578del" "" "pathogenic (dominant)" "" "0000673381" "0" "30" "16" "2140569" "2140569" "subst" "0" "00006" "PKD1_001290" "g.2140569G>A" "" "{PKDdb:PKD1;S4054F;1974}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090568G>A" "" "likely benign" "" "0000673382" "0" "90" "16" "2140563" "2140563" "subst" "0" "00006" "PKD1_000223" "g.2140563C>T" "" "{PKDdb:PKD1;W4056X;2145}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090562C>T" "" "pathogenic (dominant)" "" "0000673383" "0" "30" "16" "2140554" "2140554" "subst" "0.0655624" "00006" "PKD1_000782" "g.2140554G>A" "" "{PKDdb:PKD1;A4059V;838}" "" "" "reported in 10 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090553G>A" "" "likely benign" "" "0000673384" "0" "90" "16" "2140553" "2140556" "dup" "0" "00006" "PKD1_001289" "g.2140553_2140556dup" "" "{PKDdb:PKD1;12177_12178ins4;139}" "" "12177_12178insGGCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090552_2090555dup" "" "pathogenic (dominant)" "" "0000673385" "0" "90" "16" "2140554" "2140554" "dup" "0" "00006" "PKD1_001288" "g.2140554dup" "" "{PKDdb:PKD1;12178_12179insC;2583}" "" "12178_12179insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090553dup" "" "pathogenic (dominant)" "" "0000673386" "0" "90" "16" "2140552" "2140552" "subst" "0" "00006" "PKD1_000520" "g.2140552G>A" "" "{PKDdb:PKD1;Q4060X;1722}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090551G>A" "" "pathogenic (dominant)" "" "0000673387" "0" "30" "16" "2140532" "2140532" "subst" "0.00113207" "00006" "PKD1_001287" "g.2140532G>A" "" "{PKDdb:PKD1;12198C%3ET;142}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090531G>A" "" "likely benign" "" "0000673388" "0" "90" "16" "2140523" "2140532" "del" "0" "00006" "PKD1_001285" "g.2140523_2140532del" "" "{PKDdb:PKD1;12198_12207del10;141}" "" "12198_12207delCCCTGG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090522_2090531del" "" "pathogenic (dominant)" "" "0000673389" "0" "30" "16" "2140529" "2140529" "subst" "0" "00006" "PKD1_001286" "g.2140529A>G" "" "{PKDdb:PKD1;12201T%3EC;144}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090528A>G" "" "likely benign" "" "0000673390" "0" "90" "16" "2140518" "2140519" "del" "0" "00006" "PKD1_001284" "g.2140518_2140519del" "" "{PKDdb:PKD1;12215_12216delCT;2497}" "" "12215_12216delCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090517_2090518del" "" "pathogenic (dominant)" "" "0000673391" "0" "30" "16" "2140511" "2140511" "subst" "1.26319E-5" "00006" "PKD1_001283" "g.2140511G>T" "" "{PKDdb:PKD1;12219C%3EA;2299}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090510G>T" "" "likely benign" "" "0000673392" "0" "90" "16" "2140509" "2140510" "del" "0" "00006" "PKD1_001281" "g.2140509_2140510del" "" "{PKDdb:PKD1;12220_12221delCT;145}" "" "12220_12221delCT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090508_2090509del" "" "pathogenic (dominant)" "" "0000673393" "0" "30" "16" "2140510" "2140510" "subst" "0" "00006" "PKD1_001282" "g.2140510G>T" "" "{PKDdb:PKD1;L4074M;1519}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090509G>T" "" "likely benign" "" "0000673394" "0" "90" "16" "2140508" "2140509" "del" "0" "00006" "PKD1_001279" "g.2140508_2140509del" "" "{PKDdb:PKD1;12224_12225delGT;2498}" "" "12224_12225delGT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090507_2090508del" "" "pathogenic (dominant)" "" "0000673395" "0" "90" "16" "2140505" "2140506" "ins" "0" "00006" "PKD1_001280" "g.2140505_2140506insGGACACAGGGTAGAGAGCCC" "" "{PKDdb:PKD1;12224_12225ins17;146}" "" "12224_12225insGGGCTCTCTACCCTGTGTCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090504_2090505insGGACACAGGGTAGAGAGCCC" "" "pathogenic (dominant)" "" "0000673396" "0" "90" "16" "2140491" "2140491" "subst" "0" "00006" "PKD1_001278" "g.2140491C>T" "" "{PKDdb:PKD1;W4080X (12239G%3EA);2655}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090490C>T" "" "pathogenic (dominant)" "" "0000673397" "0" "90" "16" "2140490" "2140490" "subst" "0" "00006" "PKD1_001277" "g.2140490C>T" "" "{PKDdb:PKD1;W4080X (12240G%3EA);2146}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090489C>T" "" "pathogenic (dominant)" "" "0000673398" "0" "90" "16" "2140482" "2140482" "subst" "0" "00006" "PKD1_001276" "g.2140482G>C" "" "{PKDdb:PKD1;S4083X;1975}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090481G>C" "" "pathogenic (dominant)" "" "0000673399" "0" "30" "16" "2140479" "2140479" "subst" "4.17327E-6" "00006" "PKD1_001275" "g.2140479G>C" "" "{PKDdb:PKD1;P4084R;1618}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090478G>C" "" "likely benign" "" "0000673400" "0" "30" "16" "2140477" "2140477" "subst" "0.000362854" "00006" "PKD1_002851" "g.2140477G>A" "" "{PKDdb:PKD1;12253C%3ET;147}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090476G>A" "" "likely benign" "" "0000673401" "0" "90" "16" "2140469" "2140469" "subst" "0" "00006" "PKD1_000009" "g.2140469A>T" "" "{PKDdb:PKD1;C4087X;875}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090468A>T" "" "pathogenic (dominant)" "" "0000673402" "0" "90" "16" "2140467" "2140468" "ins" "0" "00006" "PKD1_000169" "g.2140467_2140468insT" "" "{PKDdb:PKD1;12262_12263insA;148}" "" "12262_12263insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090466_2090467insT" "" "pathogenic (dominant)" "" "0000673403" "0" "90" "16" "2140472" "2140473" "del" "0" "00006" "PKD1_001273" "g.2140472_2140473del" "" "{PKDdb:PKD1;12263_12264delTG;149}" "" "12263_12264delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090471_2090472del" "" "pathogenic (dominant)" "" "0000673404" "0" "30" "16" "2140466" "2140466" "subst" "0" "00006" "PKD1_001272" "g.2140466C>T" "" "{PKDdb:PKD1;12264G%3EA;151}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090465C>T" "" "likely benign" "" "0000673405" "0" "90" "16" "2140472" "2140473" "dup" "0" "00006" "PKD1_001274" "g.2140472_2140473dup" "" "{PKDdb:PKD1;12264_12265insTG;150}" "" "12264_12265insTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090471_2090472dup" "" "pathogenic (dominant)" "" "0000673406" "0" "90" "16" "2140465" "2140466" "del" "0" "00006" "PKD1_000185" "g.2140465_2140466del" "" "{PKDdb:PKD1;12266_12267delGG;152}" "" "12266_12267delGG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090464_2090465del" "" "pathogenic (dominant)" "" "0000673407" "0" "30" "16" "2140460" "2140460" "subst" "0.000486535" "00006" "PKD1_001271" "g.2140460G>C" "" "{PKDdb:PKD1;12270C%3EG;153}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090459G>C" "" "likely benign" "" "0000673408" "0" "90" "16" "2140458" "2140458" "del" "0" "00006" "PKD1_001270" "g.2140458del" "" "{PKDdb:PKD1;12274delG;154}" "" "12274delG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090457del" "" "pathogenic (dominant)" "" "0000673409" "0" "30" "16" "2140454" "2140454" "subst" "3.75235E-5" "00006" "PKD1_001268" "g.2140454T>G" "" "{PKDdb:PKD1;12276A%3EC;155}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090453T>G" "" "likely benign" "" "0000673410" "0" "30" "16" "2140454" "2140454" "subst" "0.186045" "00006" "PKD1_000780" "g.2140454T>C" "" "{PKDdb:PKD1;12276A%3EG;156}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090453T>C" "" "likely benign" "" "0000673411" "0" "30" "16" "2140454" "2140454" "subst" "0" "00006" "PKD1_001269" "g.2140454T>A" "" "{PKDdb:PKD1;12276A%3ET;157}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090453T>A" "" "likely benign" "" "0000673412" "0" "50" "16" "2140453" "2140453" "subst" "0" "00006" "PKD1_001267" "g.2140453G>C" "" "{PKDdb:PKD1;L4093V;1520}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090452G>C" "" "VUS" "" "0000673413" "0" "50" "16" "2140444" "2140444" "subst" "0" "00006" "PKD1_001266" "g.2140444A>G" "" "{PKDdb:PKD1;W4096R;2147}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090443A>G" "" "VUS" "" "0000673414" "0" "90" "16" "2140443" "2140443" "subst" "0" "00006" "PKD1_001265" "g.2140443C>T" "" "{PKDdb:PKD1;W4096X;2499}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090442C>T" "" "pathogenic (dominant)" "" "0000673415" "0" "30" "16" "2140438" "2140438" "subst" "8.31083E-6" "00006" "PKD1_001264" "g.2140438C>T" "" "{PKDdb:PKD1;A4098T;839}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090437C>T" "" "likely benign" "" "0000673416" "0" "30" "16" "2140425" "2140425" "subst" "0" "00006" "PKD1_001263" "g.2140425C>T" "" "{PKDdb:PKD1;G4102E;1060}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090424C>T" "" "likely benign" "" "0000673417" "0" "90" "16" "2140427" "2140427" "dup" "0" "00006" "PKD1_000518" "g.2140427dup" "" "{PKDdb:PKD1;12307_12308insG;158}" "" "12307_12308insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090426dup" "" "pathogenic (dominant)" "" "0000673418" "0" "90" "16" "2140417" "2140420" "del" "0" "00006" "PKD1_001262" "g.2140417_2140420del" "" "{PKDdb:PKD1;12310_12313del4;2500}" "" "12310_12313delGTTA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090416_2090419del" "" "pathogenic (dominant)" "" "0000673419" "0" "90" "16" "2140417" "2140417" "dup" "0" "00006" "PKD1_000184" "g.2140417dup" "" "{PKDdb:PKD1;12313_12314insA;159}" "" "12313_12314insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090416dup" "" "pathogenic (dominant)" "" "0000673420" "0" "50" "16" "2140413" "2140413" "subst" "0" "00006" "PKD1_001261" "g.2140413A>G" "" "{PKDdb:PKD1;L4106P;1521}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090412A>G" "" "VUS" "" "0000673421" "0" "90" "16" "2140400" "2140400" "subst" "0" "00006" "PKD1_001260" "g.2140400G>C" "" "{PKDdb:PKD1;Y4110X;2190}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090399G>C" "" "pathogenic (dominant)" "" "0000673422" "0" "90" "16" "2140398" "2140398" "del" "0" "00006" "PKD1_000222" "g.2140398del" "" "{PKDdb:PKD1;12332delA;160}" "" "12332delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090397del" "" "pathogenic (dominant)" "" "0000673423" "0" "30" "16" "2140393" "2140393" "subst" "0" "00006" "PKD1_001259" "g.2140393A>G" "" "{PKDdb:PKD1;12337T%3EC;2300}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090392A>G" "" "likely benign" "" "0000673424" "0" "30" "16" "2140391" "2140391" "subst" "0" "00006" "PKD1_001258" "g.2140391C>G" "" "{PKDdb:PKD1;L4113F;1522}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090390C>G" "" "likely benign" "" "0000673425" "0" "30" "16" "2140370" "2140370" "subst" "4.14E-6" "00006" "PKD1_001257" "g.2140370C>T" "" "{PKDdb:PKD1;12360G%3EA;161}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090369C>T" "" "likely benign" "" "0000673426" "0" "30" "16" "2140360" "2140360" "subst" "8.28507E-6" "00006" "PKD1_001256" "g.2140360G>A" "" "{PKDdb:PKD1;P4124S;1619}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090359G>A" "" "likely benign" "" "0000673427" "0" "90" "16" "2140357" "2140357" "subst" "0" "00006" "PKD1_000517" "g.2140357G>A" "" "{PKDdb:PKD1;Q4125X;1723}" "" "" "definitely pathogenic in ADPKDdb; reported in 5 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090356G>A" "" "pathogenic (dominant)" "" "0000673428" "0" "90" "16" "2140349" "2140349" "subst" "0" "00006" "PKD1_000023" "g.2140349G>C" "" "{PKDdb:PKD1;Y4127X;2191}" "" "" "definitely pathogenic in ADPKDdb; reported in 4 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090348G>C" "" "pathogenic (dominant)" "" "0000673429" "0" "90" "16" "2140348" "2140348" "subst" "0" "00006" "PKD1_000221" "g.2140348C>A" "" "{PKDdb:PKD1;E4128X;956}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090347C>A" "" "pathogenic (dominant)" "" "0000673430" "0" "90" "16" "2140345" "2140345" "del" "0" "00006" "PKD1_000168" "g.2140345del" "" "{PKDdb:PKD1;12385delA;162}" "" "12385delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090344del" "" "pathogenic (dominant)" "" "0000673431" "0" "70" "16" "2140342" "2140344" "del" "0" "00006" "PKD1_000273" "g.2140342_2140344del" "" "{PKDdb:PKD1;V4130del;2079}" "" "12389_12391delTGG" "highly likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090341_2090343del" "" "likely pathogenic (dominant)" "" "0000673432" "0" "70" "16" "2140338" "2140340" "del" "0" "00006" "PKD1_001255" "g.2140338_2140340del" "" "{PKDdb:PKD1;E4131del;957}" "" "12391_12393delGAG" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090337_2090339del" "" "likely pathogenic (dominant)" "" "0000673433" "0" "70" "16" "2140335" "2140337" "del" "0" "00006" "PKD1_000063" "g.2140335_2140337del" "" "{PKDdb:PKD1;L4132del;1523}" "" "12396_12398delGTT" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090334_2090336del" "" "likely pathogenic (dominant)" "" "0000673434" "0" "90" "16" "2140331" "2140331" "del" "0" "00006" "PKD1_001254" "g.2140331del" "" "{PKDdb:PKD1;12400delC;164}" "" "12400delC" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090330del" "" "pathogenic (dominant)" "" "0000673435" "0" "90" "16" "2140322" "2140330" "del" "0" "00006" "PKD1_001252" "g.2140322_2140330del" "" "{PKDdb:PKD1;L4134_R4136del3;1524}" "" "12400_12408delCTGCGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090321_2090329del" "" "pathogenic (dominant)" "" "0000673436" "0" "30" "16" "2140328" "2140328" "subst" "0" "00006" "PKD1_001253" "g.2140328C>T" "" "{PKDdb:PKD1;12402G%3EA;165}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090327C>T" "" "likely benign" "" "0000673437" "0" "70" "16" "2140324" "2140324" "subst" "0" "00006" "PKD1_000088" "g.2140324T>C" "" "{PKDdb:PKD1;R4136G;1875}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090323T>C" "" "likely pathogenic (dominant)" "" "0000673438" "0" "30" "16" "2140321" "2140321" "subst" "0.0666581" "00006" "PKD1_000779" "g.2140321G>A" "" "{PKDdb:PKD1;12409C%3ET;166}" "" "" "reported in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090320G>A" "" "likely benign" "" "0000673439" "0" "90" "16" "2140321" "2140321" "del" "0" "00006" "PKD1_000108" "g.2140321del" "" "{PKDdb:PKD1;12409delC;167}" "" "12409delC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090320del" "" "pathogenic (dominant)" "" "0000673440" "0" "90" "16" "2140312" "2140323" "del" "0" "00006" "PKD1_001251" "g.2140312_2140323del" "" "{PKDdb:PKD1;L4137_W4140del4;1525}" "" "12409_12420delCTGCGC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090311_2090322del" "" "pathogenic (dominant)" "" "0000673441" "0" "70" "16" "2140320" "2140320" "subst" "0" "00006" "PKD1_000318" "g.2140320A>G" "" "{PKDdb:PKD1;L4137P;1526}" "" "" "highly likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090319A>G" "" "likely pathogenic (dominant)" "" "0000673442" "0" "50" "16" "2140317" "2140317" "subst" "4.14652E-6" "00006" "PKD1_000943" "g.2140317C>T" "" "{PKDdb:PKD1;R4138H;1876}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090316C>T" "" "VUS" "" "0000673443" "0" "70" "16" "2140314" "2140314" "subst" "0" "00006" "PKD1_000317" "g.2140314A>G" "" "{PKDdb:PKD1;L4139P;1527}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090313A>G" "" "likely pathogenic (dominant)" "" "0000673444" "0" "90" "16" "2140310" "2140310" "subst" "0" "00006" "PKD1_000087" "g.2140310C>T" "" "{PKDdb:PKD1;W4140X;2148}" "" "" "definitely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090309C>T" "" "pathogenic (dominant)" "" "0000673445" "0" "90" "16" "2140309" "2140309" "dup" "0" "00006" "PKD1_001250" "g.2140309dup" "" "{PKDdb:PKD1;12421_12422insA;2584}" "" "12421_12422insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090308dup" "" "pathogenic (dominant)" "" "0000673446" "0" "50" "16" "2140299" "2140299" "subst" "8.29896E-6" "00006" "PKD1_001249" "g.2140299C>G" "" "{PKDdb:PKD1;S4144T;1976}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090298C>G" "" "VUS" "" "0000673447" "0" "30" "16" "2140294" "2140294" "subst" "0.0045433" "00006" "PKD1_000530" "g.2140294C>T" "" "{PKDdb:PKD1;V4146I;2080}" "" "" "reported in 5 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090293C>T" "" "likely benign" "" "0000673448" "0" "30" "16" "2140269" "2140269" "dup" "0" "00006" "PKD1_001248" "g.2140269dup" "" "{PKDdb:PKD1;IVS45~17insG;1396}" "" "12444+17_-16insG" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090268dup" "" "likely benign" "" "0000673449" "0" "30" "16" "2140269" "2140269" "dup" "0" "00006" "PKD1_001248" "g.2140269dup" "" "{PKDdb:PKD1;IVS45~23_~24insG;1397}" "" "12444+23_+24insG" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090268dup" "" "likely benign" "" "0000673450" "0" "30" "16" "2140252" "2140252" "subst" "0" "00006" "PKD1_001247" "g.2140252C>A" "" "{PKDdb:PKD1;IVS45~34G%3ET;1399}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090251C>A" "" "likely benign" "" "0000673451" "0" "50" "16" "2140239" "2140252" "del" "0" "00006" "PKD1_001246" "g.2140239_2140252del" "" "{PKDdb:PKD1;IVS45~34_~47del14;1398}" "" "IVS45+34_+47del14" "indeterminate in ADPKDdb; reported in 1 family in 1 paper\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "CLASSIFICATION record" "" "" "0" "" "" "g.2090238_2090251del" "" "VUS" "" "0000673452" "0" "70" "16" "2140209" "2140233" "del" "0" "00006" "PKD1_000545" "g.2140209_2140233del" "" "{PKDdb:PKD1;IVS45-36_-12del25;1402}" "" "12445_12500del56" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090208_2090232del" "" "likely pathogenic (dominant)" "" "0000673453" "0" "70" "16" "2140194" "2140195" "ins" "0" "00006" "PKD1_001242" "g.2140194_2140195insN[90]" "" "{PKDdb:PKD1;IVS45-14T%3EC;1400}" "" "12445_12446ins90" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090193_2090194insN[90]" "" "likely pathogenic (dominant)" "" "0000673454" "0" "30" "16" "2140204" "2140204" "subst" "4.65026E-5" "00006" "PKD1_001245" "g.2140204G>A" "" "{PKDdb:PKD1;IVS45-9C%3ET;1405}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090203G>A" "" "likely benign" "" "0000673455" "0" "90" "16" "2140194" "2140205" "del" "0" "00006" "PKD1_001238" "g.2140194_2140205del" "" "{PKDdb:PKD1;IVS45-5_12451del12;1404}" "" "12445-5_12451delCCCA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090193_2090204del" "" "pathogenic (dominant)" "" "0000673456" "0" "70" "16" "2140198" "2140198" "subst" "0" "00006" "PKD1_001244" "g.2140198G>C" "" "{PKDdb:PKD1;IVS45-3C%3EG;1403}" "" "" "likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090197G>C" "" "likely pathogenic (dominant)" "" "0000673457" "0" "90" "16" "2140196" "2140196" "subst" "0" "00006" "PKD1_001243" "g.2140196C>T" "" "{PKDdb:PKD1;IVS45-1G%3EA;1401}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090195C>T" "" "pathogenic (dominant)" "" "0000673458" "0" "30" "16" "2140193" "2140193" "subst" "0" "00006" "PKD1_001241" "g.2140193G>A" "" "{PKDdb:PKD1;12447C%3ET;168}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090192G>A" "" "likely benign" "" "0000673459" "0" "70" "16" "2140192" "2140192" "subst" "0" "00006" "PKD1_000272" "g.2140192G>A" "" "{PKDdb:PKD1;R4150C;1877}" "" "" "highly likely pathogenic in ADPKDdb; reported in 7 families in 4 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090191G>A" "" "likely pathogenic (dominant)" "" "0000673460" "0" "50" "16" "2140191" "2140191" "subst" "0" "00006" "PKD1_001240" "g.2140191C>T" "" "{PKDdb:PKD1;R4150H;1878}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090190C>T" "" "VUS" "" "0000673461" "0" "90" "16" "2140194" "2140205" "dup" "0" "00006" "PKD1_001239" "g.2140194_2140205dup" "" "{PKDdb:PKD1;H4151delinsPQFR;2530}" "" "12451_12452insCCCAGTTCCGCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090193_2090204dup" "" "pathogenic (dominant)" "" "0000673462" "0" "50" "16" "2140185" "2140185" "subst" "7.65847E-5" "00006" "PKD1_001237" "g.2140185T>G" "" "{PKDdb:PKD1;K4152T;1459}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090184T>G" "" "VUS" "" "0000673463" "0" "30" "16" "2140181" "2140181" "subst" "1.27821E-5" "00006" "PKD1_001236" "g.2140181G>A" "" "{PKDdb:PKD1;12459C%3ET;169}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090180G>A" "" "likely benign" "" "0000673464" "0" "70" "16" "2140180" "2140180" "subst" "0.000926424" "00006" "PKD1_000086" "g.2140180G>A" "" "{PKDdb:PKD1;R4154C;1879}" "" "" "likely pathogenic in ADPKDdb; reported in 6 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090179G>A" "" "likely pathogenic (dominant)" "" "0000673465" "0" "70" "16" "2140177" "2140177" "subst" "0" "00006" "PKD1_000428" "g.2140177A>C" "" "{PKDdb:PKD1;F4155V;995}" "" "" "likely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090176A>C" "" "likely pathogenic (dominant)" "" "0000673466" "0" "50" "16" "2140175" "2140175" "subst" "0" "00006" "PKD1_001235" "g.2140175A>C" "" "{PKDdb:PKD1;F4155L;994}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090174A>C" "" "VUS" "" "0000673467" "0" "50" "16" "2140171" "2140171" "subst" "0" "00006" "PKD1_001234" "g.2140171C>T" "" "{PKDdb:PKD1;G4157R;1061}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090170C>T" "" "VUS" "" "0000673468" "0" "50" "16" "2140167" "2140167" "subst" "0.000128975" "00006" "PKD1_001233" "g.2140167A>G" "" "{PKDdb:PKD1;M4158T;1553}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090166A>G" "" "VUS" "" "0000673469" "0" "90" "16" "2140151" "2140161" "del" "0" "00006" "PKD1_000316" "g.2140151_2140161del" "" "{PKDdb:PKD1;12483_12493del11;170}" "" "12483_12493delGCCCTC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090150_2090160del" "" "pathogenic (dominant)" "" "0000673470" "0" "30" "16" "2140154" "2140154" "subst" "0.000220793" "00006" "PKD1_001232" "g.2140154G>T" "" "{PKDdb:PKD1;12486C%3EA;171}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090153G>T" "" "likely benign" "" "0000673471" "0" "30" "16" "2140151" "2140151" "subst" "0" "00006" "PKD1_001231" "g.2140151A>C" "" "{PKDdb:PKD1;12489T%3EG;173}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090150A>C" "" "likely benign" "" "0000673472" "0" "90" "16" "2140126" "2140126" "del" "0" "00006" "PKD1_000066" "g.2140126del" "" "{PKDdb:PKD1;12514delT;174}" "" "12514delT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090125del" "" "pathogenic (dominant)" "" "0000673473" "0" "30" "16" "2140114" "2140114" "subst" "0" "00006" "PKD1_001230" "g.2140114G>T" "" "{PKDdb:PKD1;P4176T;1620}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090113G>T" "" "likely benign" "" "0000673474" "0" "90" "16" "2140112" "2140134" "dup" "0" "00006" "PKD1_001228" "g.2140112_2140134dup" "" "{PKDdb:PKD1;12530_12531ins23;175}" "" "12530_12531insAAGGTATCCCCGGATGTGCCCCC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090111_2090133dup" "" "pathogenic (dominant)" "" "0000673475" "0" "90" "16" "2140114" "2140114" "dup" "0" "00006" "PKD1_001229" "g.2140114dup" "" "{PKDdb:PKD1;12530_12531insC;2585}" "" "12530_12531insC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090113dup" "" "pathogenic (dominant)" "" "0000673476" "0" "90" "16" "2140109" "2140109" "del" "0" "00006" "PKD1_000012" "g.2140109del" "" "{PKDdb:PKD1;12531delA;177}" "" "12531delA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090108del" "" "pathogenic (dominant)" "" "0000673477" "0" "90" "16" "2140109" "2140109" "dup" "0" "00006" "PKD1_000422" "g.2140109dup" "" "{PKDdb:PKD1;12531_12532insA;176}" "" "12531_12532insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090108dup" "" "pathogenic (dominant)" "" "0000673478" "0" "90" "16" "2140104" "2140107" "del" "0" "00006" "PKD1_001227" "g.2140104_2140107del" "" "{PKDdb:PKD1;12534_12537del4;178}" "" "12534_12537delCAGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090103_2090106del" "" "pathogenic (dominant)" "" "0000673479" "0" "90" "16" "2140081" "2140097" "del" "0" "00006" "PKD1_000248" "g.2140081_2140097del" "" "{PKDdb:PKD1;12544_12560del17;179}" "" "12544_12560delTCCGAT..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090080_2090096del" "" "pathogenic (dominant)" "" "0000673480" "0" "30" "16" "2140094" "2140094" "subst" "2.08221E-5" "00006" "PKD1_001226" "g.2140094G>A" "" "{PKDdb:PKD1;12546C%3ET;180}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090093G>A" "" "likely benign" "" "0000673481" "0" "50" "16" "2140086" "2140086" "subst" "4.15541E-6" "00006" "PKD1_001225" "g.2140086G>C" "" "{PKDdb:PKD1;S4185W;1977}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090085G>C" "" "VUS" "" "0000673482" "0" "90" "16" "2140077" "2140077" "dup" "0" "00006" "PKD1_001224" "g.2140077dup" "" "{PKDdb:PKD1;12564_12565insC;182}" "" "12564_12565insC" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090076dup" "" "pathogenic (dominant)" "" "0000673483" "0" "90" "16" "2140072" "2140072" "dup" "0" "00006" "PKD1_001223" "g.2140072dup" "" "{PKDdb:PKD1;12568_12569insT;2586}" "" "12568_12569insT" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090071dup" "" "pathogenic (dominant)" "" "0000673484" "0" "30" "16" "2140071" "2140071" "subst" "6.62652E-5" "00006" "PKD1_001222" "g.2140071G>A" "" "{PKDdb:PKD1;S4190F;1978}" "" "" "reported in 3 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090070G>A" "" "likely benign" "" "0000673485" "0" "30" "16" "2140070" "2140070" "subst" "0.000389576" "00006" "PKD1_001221" "g.2140070G>A" "" "{PKDdb:PKD1;12570C%3ET;183}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090069G>A" "" "likely benign" "" "0000673486" "0" "90" "16" "2140065" "2140068" "dup" "0" "00006" "PKD1_001220" "g.2140065_2140068dup" "" "{PKDdb:PKD1;12580_12581ins4;2587}" "" "12580_12581insCAGC" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090064_2090067dup" "" "pathogenic (dominant)" "" "0000673487" "0" "90" "16" "2140020" "2140047" "del" "0" "00006" "PKD1_001219" "g.2140020_2140047del" "" "{PKDdb:PKD1;12593_12620del28;184}" "" "12593_12620delGCGTGA..." "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090019_2090046del" "" "pathogenic (dominant)" "" "0000673488" "0" "90" "16" "2140018" "2140045" "del" "0" "00006" "PKD1_000922" "g.2140018_2140045del" "" "{PKDdb:PKD1;12604_12631del28;2274}" "" "12604_12631delGGCCGG..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090017_2090044del" "" "pathogenic (dominant)" "" "0000673489" "0" "90" "16" "2140008" "2140035" "del" "0" "00006" "PKD1_001216" "g.2140008_2140035del" "" "{PKDdb:PKD1;12605_12632del28;2501}" "" "12605_12632delGCCGGC..." "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090007_2090034del" "" "pathogenic (dominant)" "" "0000673490" "0" "90" "16" "2140008" "2140035" "del" "0" "00006" "PKD1_001216" "g.2140008_2140035del" "" "{PKDdb:PKD1;12608_12635del28;185}" "" "Arg4203fs92X" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090007_2090034del" "" "pathogenic (dominant)" "" "0000673491" "0" "90" "16" "2140018" "2140019" "del" "0" "00006" "PKD1_001217" "g.2140018_2140019del" "" "{PKDdb:PKD1;12624_12625delTG;2502}" "" "12624_12625delTG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090017_2090018del" "" "pathogenic (dominant)" "" "0000673492" "0" "90" "16" "2140016" "2140016" "subst" "0" "00006" "PKD1_001218" "g.2140016A>T" "" "{PKDdb:PKD1;C4208X;2503}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090015A>T" "" "pathogenic (dominant)" "" "0000673493" "0" "30" "16" "2140010" "2140010" "subst" "0.187805" "00006" "PKD1_000778" "g.2140010A>G" "" "{PKDdb:PKD1;12630T%3EC;187}" "" "" "reported in 11 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2090009A>G" "" "likely benign" "" "0000673494" "0" "90" "16" "2140004" "2140005" "ins" "0" "00006" "PKD1_001215" "g.2140004_2140005insN[28]" "" "{PKDdb:PKD1;12635_12636ins28;188}" "" "12635_12636ins28" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2090003_2090004insN[28]" "" "pathogenic (dominant)" "" "0000673495" "0" "90" "16" "2139994" "2139994" "subst" "0" "00006" "PKD1_001214" "g.2139994G>A" "" "{PKDdb:PKD1;Q4216X;2504}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089993G>A" "" "pathogenic (dominant)" "" "0000673496" "0" "30" "16" "2139992" "2139992" "subst" "7.95052E-5" "00006" "PKD1_000448" "g.2139992T>G" "" "{PKDdb:PKD1;Q4216H;1724}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089991T>G" "" "likely benign" "" "0000673497" "0" "30" "16" "2139989" "2139989" "subst" "0.000547888" "00006" "PKD1_001212" "g.2139989G>A" "" "{PKDdb:PKD1;12651C%3ET;189}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089988G>A" "" "likely benign" "" "0000673498" "0" "90" "16" "2139990" "2139990" "del" "0" "00006" "PKD1_001213" "g.2139990del" "" "{PKDdb:PKD1;12651delC;190}" "" "12651delC (Ala4217fs86X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089989del" "" "pathogenic (dominant)" "" "0000673499" "0" "30" "16" "2139983" "2139983" "subst" "1.24944E-5" "00006" "PKD1_001211" "g.2139983G>A" "" "{PKDdb:PKD1;12657C%3ET;191}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089982G>A" "" "likely benign" "" "0000673500" "0" "50" "16" "2139982" "2139982" "subst" "0" "00006" "PKD1_001210" "g.2139982C>G" "" "{PKDdb:PKD1;E4220Q;958}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089981C>G" "" "VUS" "" "0000673501" "0" "90" "16" "2139982" "2139982" "subst" "0" "00006" "PKD1_000315" "g.2139982C>A" "" "{PKDdb:PKD1;E4220X;959}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089981C>A" "" "pathogenic (dominant)" "" "0000673502" "0" "30" "16" "2139976" "2139976" "subst" "0.00229081" "00006" "PKD1_002856" "g.2139976G>A" "" "{PKDdb:PKD1;12664C%3ET;192}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089975G>A" "" "likely benign" "" "0000673503" "0" "90" "16" "2139974" "2139974" "dup" "0" "00006" "PKD1_001209" "g.2139974dup" "" "{PKDdb:PKD1;12666_12667insG;2588}" "" "12666_12667insG" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089973dup" "" "pathogenic (dominant)" "" "0000673504" "0" "70" "16" "2139966" "2139966" "subst" "0" "00006" "PKD1_000047" "g.2139966T>G" "" "{PKDdb:PKD1;Q4225P;1725}" "" "" "highly likely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089965T>G" "" "likely pathogenic (dominant)" "" "0000673505" "0" "50" "16" "2139964" "2139964" "subst" "0" "00006" "PKD1_001208" "g.2139964A>C" "" "{PKDdb:PKD1;F4226V;997}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089963A>C" "" "VUS" "" "0000673506" "0" "90" "16" "2139951" "2139968" "del" "0" "00006" "PKD1_001205" "g.2139951_2139968del" "" "{PKDdb:PKD1;F4226_Q4231del6;996}" "" "12676_12693delTTTGAC..." "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089950_2089967del" "" "pathogenic (dominant)" "" "0000673507" "0" "90" "16" "2139958" "2139958" "subst" "0" "00006" "PKD1_000004" "g.2139958G>A" "" "{PKDdb:PKD1;R4228X;1883}" "" "" "definitely pathogenic in ADPKDdb; reported in 8 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089957G>A" "" "pathogenic (dominant)" "" "0000673508" "0" "70" "16" "2139957" "2139957" "subst" "0" "00006" "PKD1_001207" "g.2139957C>G" "" "{PKDdb:PKD1;R4228P;1882}" "" "" "likely pathogenic in ADPKDdb; reported in 3 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089956C>G" "" "likely pathogenic (dominant)" "" "0000673509" "0" "30" "16" "2139949" "2139949" "subst" "1.65905E-5" "00006" "PKD1_001206" "g.2139949G>T" "" "{PKDdb:PKD1;Q4231K;1726}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089948G>T" "" "likely benign" "" "0000673510" "0" "90" "16" "2139949" "2139949" "subst" "0" "00006" "PKD1_000447" "g.2139949G>A" "" "{PKDdb:PKD1;Q4231X;1727}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089948G>A" "" "pathogenic (dominant)" "" "0000673511" "0" "30" "16" "2139935" "2139935" "subst" "0.000170061" "00006" "PKD1_001204" "g.2139935G>A" "" "{PKDdb:PKD1;12705C%3ET;193}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089934G>A" "" "likely benign" "" "0000673512" "0" "90" "16" "2139930" "2139930" "dup" "0" "00006" "PKD1_001203" "g.2139930dup" "" "{PKDdb:PKD1;12710_12711insA;2605}" "" "12710_12711insA" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089929dup" "" "pathogenic (dominant)" "" "0000673513" "0" "90" "16" "2139929" "2139929" "subst" "0" "00006" "PKD1_000080" "g.2139929G>C" "" "{PKDdb:PKD1;Y4237X;2193}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089928G>C" "" "pathogenic (dominant)" "" "0000673514" "0" "90" "16" "2139928" "2139928" "subst" "0" "00006" "PKD1_001202" "g.2139928G>A" "" "{PKDdb:PKD1;Q4238X;1728}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089927G>A" "" "pathogenic (dominant)" "" "0000673515" "0" "90" "16" "2139922" "2139922" "subst" "0" "00006" "PKD1_001201" "g.2139922C>A" "" "{PKDdb:PKD1;E4240X;960}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089921C>A" "" "pathogenic (dominant)" "" "0000673516" "0" "90" "16" "2139919" "2139919" "subst" "0" "00006" "PKD1_000463" "g.2139919G>A" "" "{PKDdb:PKD1;Q4241X;1729}" "" "" "definitely pathogenic in ADPKDdb; reported in 1 family in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089918G>A" "" "pathogenic (dominant)" "" "0000673517" "0" "90" "16" "2139916" "2139916" "subst" "0" "00006" "PKD1_000446" "g.2139916G>A" "" "{PKDdb:PKD1;Q4242X;1730}" "" "" "definitely pathogenic in ADPKDdb; reported in 2 families in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089915G>A" "" "pathogenic (dominant)" "" "0000673518" "0" "90" "16" "2139896" "2139896" "del" "0" "00006" "PKD1_000421" "g.2139896del" "" "{PKDdb:PKD1;12745delC;194}" "" "12745delC (Arg4249fs56X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089895del" "" "pathogenic (dominant)" "" "0000673519" "0" "50" "16" "2139883" "2139883" "subst" "5.14042E-5" "00006" "PKD1_001200" "g.2139883G>A" "" "{PKDdb:PKD1;R4253W;1884}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089882G>A" "" "VUS" "" "0000673520" "0" "50" "16" "2139877" "2139877" "subst" "0" "00006" "PKD1_000218" "g.2139877G>A" "" "{PKDdb:PKD1;P4255S;1621}" "" "" "indeterminate in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089876G>A" "" "VUS" "" "0000673521" "0" "30" "16" "2139875" "2139875" "subst" "0.00376909" "00006" "PKD1_001199" "g.2139875G>A" "" "{PKDdb:PKD1;12765C%3ET;196}" "" "" "reported in 8 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089874G>A" "" "likely benign" "" "0000673522" "0" "30" "16" "2139872" "2139872" "subst" "0.000249916" "00006" "PKD1_001198" "g.2139872G>A" "" "{PKDdb:PKD1;12768C%3ET;197}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089871G>A" "" "likely benign" "" "0000673523" "0" "30" "16" "2139871" "2139871" "subst" "0.000505889" "00006" "PKD1_001197" "g.2139871C>T" "" "{PKDdb:PKD1;G4257R;1063}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089870C>T" "" "likely benign" "" "0000673524" "0" "90" "16" "2139871" "2139871" "del" "0" "00006" "PKD1_001196" "g.2139871del" "" "{PKDdb:PKD1;12770delG;198}" "" "12770delG (Gly4257fs47X)" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089870del" "" "pathogenic (dominant)" "" "0000673525" "0" "50" "16" "2139814" "2139814" "subst" "0.00377645" "00006" "PKD1_000046" "g.2139814G>A" "" "{PKDdb:PKD1;R4276W;1885}" "" "" "indeterminate in ADPKDdb; reported in 18 families in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089813G>A" "" "VUS" "" "0000673526" "0" "90" "16" "2139778" "2139779" "ins" "0" "00006" "PKD1_001195" "g.2139778_2139779insN[39]" "" "{PKDdb:PKD1;P4287_S4288ins13;1622}" "" "12861_12862ins39" "definitely pathogenic in ADPKDdb; reported in 1 family in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089777_2089778insN[39]" "" "pathogenic (dominant)" "" "0000673527" "0" "30" "16" "2139778" "2139778" "subst" "3.31364E-5" "00006" "PKD1_001194" "g.2139778T>C" "" "{PKDdb:PKD1;S4288G;1979}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089777T>C" "" "likely benign" "" "0000673528" "0" "30" "16" "2139715" "2139715" "subst" "0" "00006" "PKD1_000931" "g.2139715C>T" "" "{PKDdb:PKD1;*13G%3EA;2}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089714C>T" "" "likely benign" "" "0000673529" "0" "30" "16" "2139713" "2139713" "subst" "0.0145591" "00006" "PKD1_000932" "g.2139713C>T" "" "{PKDdb:PKD1;*15G%3EA;3}" "" "" "reported in 6 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089712C>T" "" "likely benign" "" "0000673530" "0" "30" "16" "2139615" "2139615" "subst" "0" "00006" "PKD1_000930" "g.2139615T>C" "" "{PKDdb:PKD1;*113A%3EG;1}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089614T>C" "" "likely benign" "" "0000673531" "0" "30" "16" "2139491" "2139491" "subst" "0" "00006" "PKD1_000933" "g.2139491A>G" "" "{PKDdb:PKD1;*237T%3EC;4}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089490A>G" "" "likely benign" "" "0000673532" "0" "30" "16" "2139484" "2139484" "subst" "0" "00006" "PKD1_000934" "g.2139484G>A" "" "{PKDdb:PKD1;*244C%3ET;5}" "" "" "reported in 2 papers" "CLASSIFICATION record" "" "" "0" "" "" "g.2089483G>A" "" "likely benign" "" "0000673533" "0" "30" "16" "2139478" "2139478" "subst" "0" "00006" "PKD1_000935" "g.2139478C>T" "" "{PKDdb:PKD1;*250G%3EA;6}" "" "" "reported in 1 paper" "CLASSIFICATION record" "" "" "0" "" "" "g.2089477C>T" "" "likely benign" "" "0000673534" "11" "90" "16" "2153799" "2153799" "subst" "0" "00006" "PKD1_000940" "g.2153799G>C" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2103798G>C" "" "pathogenic (dominant)" "" "0000673535" "21" "50" "16" "2158405" "2158405" "subst" "2.8598E-5" "00006" "PKD1_000946" "g.2158405G>A" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2108404G>A" "" "VUS" "" "0000673536" "21" "90" "16" "2161118" "2161119" "del" "0" "00006" "PKD1_000941" "g.2161118_2161119del" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2111117_2111118del" "" "pathogenic (dominant)" "" "0000673537" "21" "90" "16" "2160969" "2160969" "del" "0" "00006" "PKD1_000942" "g.2160969del" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2110968del" "" "pathogenic (dominant)" "" "0000673538" "11" "90" "16" "2140317" "2140317" "subst" "4.14652E-6" "00006" "PKD1_000943" "g.2140317C>T" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2090316C>T" "" "VUS" "" "0000673539" "3" "50" "16" "2161348" "2161348" "subst" "4.27745E-6" "00006" "PKD1_000944" "g.2161348C>T" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2111347C>T" "" "VUS" "" "0000673540" "21" "50" "16" "2153342" "2153342" "subst" "0.000114431" "00006" "PKD1_000945" "g.2153342C>T" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2103341C>T" "" "VUS" "" "0000673542" "21" "30" "16" "2154573" "2154573" "subst" "0.0010848" "00006" "PKD1_000157" "g.2154573A>C" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "Germline" "" "" "0" "" "" "g.2104572A>C" "" "likely benign" "" "0000673543" "0" "70" "16" "2152237" "2152237" "subst" "2.88455E-5" "00006" "PKD1_001190" "g.2152237G>C" "" "{PMID:Bergmann 2011:22034641}" "" "" "" "De novo" "" "" "0" "" "" "g.2102236G>C" "" "likely pathogenic (dominant)" "" "0000674775" "0" "90" "16" "2106894" "2161281" "del" "0" "00596" "TSC2_001558" "g.2106894_2161281del" "" "Unpublished" "" "16p13.3 (2,106,894-2,161,281) x1/54kb interstital deletion" "TSC2 exons 9-42 + PKD1 exons 15-46 deleted; TSC2/PKD1 contiguous gene deletion; breakpoints determined; 54,388bp genomic deletion starts in TSC2 intron 8 (NM_000548.3:c.774+125) and ends in PKD1 exon 15 (NM_000296.3:c.3887)" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000674788" "0" "99" "16" "2106894" "2161281" "del" "0" "00596" "TSC2_001558" "g.2106894_2161281del" "" "" "" "" "deletion includes TSC2 exons 9-42 and PKD1 exons 15-46 (PKD1 variant = c.3887_*1017{0}); 54,388bp genomic deletion with breakpoints determined; starts in TSC2 intron 8 (NM_000548.3:c.774+125) and ends in PKD1 exon 15 (NM_000296.3:c.3887)" "SUMMARY record" "" "" "0" "" "" "g.2056893_2088712{0}" "" "pathogenic (dominant)" "" "0000680440" "0" "30" "16" "2096333" "2096333" "subst" "1.63137E-5" "02330" "NTHL1_000213" "g.2096333C>T" "" "" "" "NTHL1(NM_002528.7):c.150G>A (p.P50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680442" "0" "10" "16" "2103408" "2103408" "subst" "0.000593427" "02330" "TSC2_001304" "g.2103408C>G" "" "" "" "TSC2(NM_000548.5):c.291C>G (p.A97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680443" "0" "30" "16" "2105407" "2105407" "subst" "4.06072E-6" "02330" "TSC2_000078" "g.2105407C>T" "" "" "" "TSC2(NM_001370404.1):c.486C>T (p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680444" "0" "30" "16" "2106716" "2106716" "subst" "2.85598E-5" "02330" "TSC2_000305" "g.2106716C>T" "" "" "" "TSC2(NM_001370404.1):c.720C>T (p.I240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680445" "0" "30" "16" "2124272" "2124272" "subst" "0.000183152" "02326" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680446" "0" "50" "16" "2129604" "2129604" "subst" "0" "01943" "TSC2_004441" "g.2129604A>C" "" "" "" "TSC2(NM_001114382.2):c.3331A>C (p.K1111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680447" "0" "30" "16" "2134546" "2134546" "subst" "8.44973E-6" "01943" "TSC2_004440" "g.2134546C>T" "" "" "" "TSC2(NM_001114382.2):c.4254C>T (p.P1418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680448" "0" "30" "16" "2134723" "2134723" "subst" "0.000180369" "02330" "TSC2_002894" "g.2134723C>A" "" "" "" "TSC2(NM_000548.3):c.4493+7C>A, TSC2(NM_000548.5):c.4493+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680449" "0" "30" "16" "2134735" "2134735" "subst" "4.30233E-6" "02330" "TSC2_004438" "g.2134735G>A" "" "" "" "TSC2(NM_001077183.3):c.4292+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680450" "0" "30" "16" "2136214" "2136214" "subst" "9.3723E-5" "01943" "TSC2_002390" "g.2136214C>T" "" "" "" "TSC2(NM_001114382.2):c.4614C>T (p.I1538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680451" "0" "50" "16" "2138058" "2138058" "subst" "0" "01943" "TSC2_004434" "g.2138058G>A" "" "" "" "TSC2(NM_001114382.2):c.5009G>A (p.G1670D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680452" "0" "30" "16" "2138533" "2138533" "subst" "4.89736E-5" "01943" "TSC2_004201" "g.2138533C>T" "" "" "" "PKD1(NM_001009944.3):c.*1195G>A, TSC2(NM_000548.5):c.5346C>T (p.A1782=), TSC2(NM_001114382.2):c.5277C>T (p.A1759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680453" "0" "50" "16" "2138596" "2138596" "subst" "0" "02327" "PKD1_002905" "g.2138596C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680454" "0" "50" "16" "2139748" "2139748" "subst" "0" "02325" "PKD1_002903" "g.2139748C>A" "" "" "" "PKD1(NM_001009944.3):c.12892G>T (p.V4298F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680455" "0" "30" "16" "2139814" "2139814" "subst" "0.00377645" "02326" "PKD1_000046" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680456" "0" "70" "16" "2139931" "2139931" "subst" "0" "01804" "PKD1_002901" "g.2139931A>C" "" "" "" "PKD1(NM_000296.3):c.12706T>G (p.(Tyr4236Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680457" "0" "90" "16" "2140757" "2140757" "subst" "0" "02326" "PKD1_002895" "g.2140757A>T" "" "" "" "PKD1(NM_001009944.2):c.12056T>A (p.L4019*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680458" "0" "90" "16" "2141004" "2141004" "subst" "0" "02326" "PKD1_000566" "g.2141004G>A" "" "" "" "PKD1(NM_001009944.2):c.11884C>T (p.Q3962*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680459" "0" "30" "16" "2141913" "2141913" "subst" "0.000497664" "01943" "PKD1_002885" "g.2141913G>A" "" "" "" "PKD1(NM_000296.3):c.11409-6C>T (p.(=)), PKD1(NM_001009944.2):c.11412-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680460" "0" "30" "16" "2143099" "2143099" "subst" "0" "01943" "PKD1_002879" "g.2143099T>C" "" "" "" "PKD1(NM_001009944.2):c.11017-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680461" "0" "30" "16" "2144180" "2144180" "subst" "0.00130126" "01943" "PKD1_000016" "g.2144180G>C" "" "" "" "PKD1(NM_000296.3):c.10528C>G (p.(Leu3510Val)), PKD1(NM_001009944.2):c.10531C>G (p.L3511V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680462" "0" "30" "16" "2147400" "2147400" "subst" "0.000357104" "01804" "PKD1_001582" "g.2147400G>A" "" "" "" "PKD1(NM_000296.3):c.10322C>T (p.(Ala3441Val)), PKD1(NM_001009944.2):c.10325C>T (p.A3442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680463" "0" "30" "16" "2149738" "2149738" "subst" "0.00341381" "02326" "PKD1_000771" "g.2149738G>A" "" "" "" "PKD1(NM_000296.3):c.9957C>T (p.(Ser3319=)), PKD1(NM_001009944.2):c.9957C>T (p.S3319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680464" "0" "50" "16" "2149956" "2149956" "subst" "0.000155417" "01804" "PKD1_000439" "g.2149956G>A" "" "" "" "PKD1(NM_000296.3):c.9829C>T (p.(Arg3277Cys)), PKD1(NM_001009944.2):c.9829C>T (p.R3277C), PKD1(NM_001009944.3):c.9829C>T (p.R3277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680465" "0" "30" "16" "2153369" "2153369" "subst" "0.000313523" "02326" "PKD1_000822" "g.2153369C>T" "" "" "" "PKD1(NM_001009944.2):c.8689G>A (p.V2897I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680466" "0" "30" "16" "2153483" "2153483" "subst" "8.58893E-5" "01943" "TSC2_004347" "g.2153483C>T" "" "" "" "PKD1(NM_000296.3):c.8575G>A (p.(Ala2859Thr)), PKD1(NM_001009944.2):c.8575G>A (p.A2859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680467" "0" "30" "16" "2153811" "2153811" "subst" "0.000777119" "02326" "PKD1_001889" "g.2153811C>T" "" "" "" "PKD1(NM_001009944.2):c.8247G>A (p.A2749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680468" "0" "30" "16" "2158595" "2158595" "subst" "1.24821E-5" "01943" "TSC2_004348" "g.2158595G>A" "" "" "" "PKD1(NM_001009944.2):c.6573C>T (p.R2191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680469" "0" "50" "16" "2158734" "2158734" "subst" "0" "02327" "TSC2_004349" "g.2158734G>A" "" "" "" "PKD1(NM_000296.3):c.6434C>T (p.(Ala2145Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680470" "0" "30" "16" "2160323" "2160323" "subst" "0.00306431" "01943" "PKD1_000842" "g.2160323G>A" "" "" "" "PKD1(NM_000296.3):c.4845C>T (p.(Asn1615=)), PKD1(NM_001009944.2):c.4845C>T (p.N1615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680471" "0" "30" "16" "2161150" "2161150" "subst" "0.00255814" "01943" "PKD1_000204" "g.2161150G>A" "" "" "" "PKD1(NM_000296.3):c.4018C>T (p.(Arg1340Trp)), PKD1(NM_000296.4):c.4018C>T (p.R1340W), PKD1(NM_001009944.2):c.4018C>T (p.R1340W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680472" "0" "30" "16" "2164652" "2164652" "subst" "1.28062E-5" "01943" "TSC2_004350" "g.2164652C>T" "" "" "" "PKD1(NM_001009944.2):c.2372G>A (p.R791Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680473" "0" "30" "16" "2164789" "2164789" "subst" "0.00115064" "01943" "PKD1_001096" "g.2164789G>C" "" "" "" "PKD1(NM_000296.3):c.2235C>G (p.(Ala745=)), PKD1(NM_001009944.2):c.2235C>G (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680474" "0" "30" "16" "2164832" "2164832" "subst" "0.000268148" "02326" "PKD1_001097" "g.2164832G>A" "" "" "" "PKD1(NM_001009944.2):c.2192C>T (p.P731L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680475" "0" "30" "16" "2168413" "2168413" "subst" "0.00113754" "02326" "PKD1_000698" "g.2168413C>T" "" "" "" "PKD1(NM_000296.3):c.580G>A (p.(Ala194Thr)), PKD1(NM_001009944.2):c.580G>A (p.A194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691969" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02325" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691971" "0" "30" "16" "2106722" "2106722" "subst" "0.000118428" "02325" "TSC2_004446" "g.2106722C>T" "" "" "" "TSC2(NM_000548.5):c.726C>T (p.T242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691973" "0" "50" "16" "2126163" "2126163" "subst" "8.13749E-6" "02327" "TSC2_004430" "g.2126163A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000691974" "0" "30" "16" "2126489" "2126489" "subst" "0.000268402" "02325" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691975" "0" "30" "16" "2129123" "2129123" "subst" "0" "01943" "TSC2_004442" "g.2129123C>T" "" "" "" "TSC2(NM_001114382.2):c.3057C>T (p.H1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691976" "0" "50" "16" "2135008" "2135008" "subst" "0" "02325" "TSC2_004437" "g.2135008C>G" "" "" "" "TSC2(NM_000548.5):c.4550C>G (p.P1517R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691977" "0" "30" "16" "2138075" "2138075" "subst" "2.0352E-5" "02330" "TSC2_004433" "g.2138075G>A" "" "" "" "TSC2(NM_000548.5):c.5095G>A (p.V1699M, p.(Val1699Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691978" "0" "30" "16" "2143097" "2143097" "subst" "0.00107037" "02326" "PKD1_002880" "g.2143097G>A" "" "" "" "PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691979" "0" "30" "16" "2147336" "2147336" "subst" "4.10176E-6" "01943" "TSC2_004351" "g.2147336T>C" "" "" "" "PKD1(NM_001009944.2):c.10389A>G (p.K3463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691980" "0" "30" "16" "2147776" "2147776" "subst" "0" "01943" "TSC2_004352" "g.2147776G>C" "" "" "" "PKD1(NM_001009944.2):c.10173C>G (p.A3391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691981" "0" "30" "16" "2150171" "2150171" "subst" "4.64959E-5" "01943" "TSC2_004353" "g.2150171G>A" "" "" "" "PKD1(NM_001009944.2):c.9708C>T (p.A3236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691982" "0" "30" "16" "2150211" "2150211" "subst" "0.000116022" "02326" "TSC2_004354" "g.2150211G>A" "" "" "" "PKD1(NM_000296.3):c.9668C>T (p.(Thr3223Met)), PKD1(NM_001009944.2):c.9668C>T (p.T3223M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691983" "0" "50" "16" "2152468" "2152468" "subst" "1.93961E-5" "01943" "PKD1_000154" "g.2152468G>A" "" "" "" "PKD1(NM_001009944.2):c.9115C>T (p.R3039C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691984" "0" "30" "16" "2152589" "2152589" "subst" "0.000143541" "01943" "TSC2_004355" "g.2152589G>A" "" "" "" "PKD1(NM_001009944.2):c.8994C>T (p.H2998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691985" "0" "30" "16" "2156190" "2156190" "subst" "9.96694E-5" "01943" "PKD1_001998" "g.2156190G>A" "" "" "" "PKD1(NM_000296.3):c.7605C>T (p.(Tyr2535=)), PKD1(NM_001009944.2):c.7605C>T (p.Y2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691986" "0" "50" "16" "2157964" "2157964" "subst" "0" "01943" "PKD1_000077" "g.2157964G>A" "" "" "" "PKD1(NM_001009944.2):c.6985C>T (p.R2329W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691987" "0" "30" "16" "2158419" "2158419" "subst" "0.00234517" "01943" "PKD1_000079" "g.2158419G>A" "" "" "" "PKD1(NM_000296.3):c.6749C>T (p.(Thr2250Met)), PKD1(NM_001009944.2):c.6749C>T (p.T2250M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691988" "0" "30" "16" "2158684" "2158684" "subst" "0" "02325" "PKD1_001068" "g.2158684G>A" "" "" "" "PKD1(NM_000296.3):c.6484C>T (p.(Arg2162Trp)), PKD1(NM_001009944.3):c.6484C>T (p.R2162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691989" "0" "30" "16" "2159161" "2159161" "subst" "0.000206545" "01943" "PKD1_002216" "g.2159161C>T" "" "" "" "PKD1(NM_000296.3):c.6007G>A (p.(Ala2003Thr)), PKD1(NM_001009944.2):c.6007G>A (p.A2003T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691990" "0" "30" "16" "2159276" "2159276" "subst" "3.1149E-5" "01943" "TSC2_004356" "g.2159276G>A" "" "" "" "PKD1(NM_001009944.2):c.5892C>T (p.R1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691991" "0" "70" "16" "2159338" "2159338" "subst" "0.00018048" "02325" "PKD1_001074" "g.2159338C>T" "" "" "" "PKD1(NM_000296.3):c.5830G>A (p.(Gly1944Arg)), PKD1(NM_001009944.2):c.5830G>A (p.G1944R), PKD1(NM_001009944.3):c.5830G>A (p.G1944R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691992" "0" "30" "16" "2159464" "2159464" "subst" "0.000173466" "01943" "TSC2_004357" "g.2159464C>T" "" "" "" "PKD1(NM_000296.3):c.5704G>A (p.(Gly1902Arg)), PKD1(NM_001009944.2):c.5704G>A (p.G1902R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691993" "0" "50" "16" "2159988" "2159988" "subst" "3.78059E-5" "01943" "PKD1_002295" "g.2159988G>A" "" "" "" "PKD1(NM_000296.3):c.5180C>T (p.(Pro1727Leu)), PKD1(NM_001009944.2):c.5180C>T (p.P1727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691994" "0" "50" "16" "2161113" "2161113" "subst" "0.000679248" "02325" "PKD1_002399" "g.2161113C>T" "" "" "" "PKD1(NM_000296.3):c.4055G>A (p.(Ser1352Asn)), PKD1(NM_001009944.2):c.4055G>A (p.S1352N), PKD1(NM_001009944.3):c.4055G>A (p.S1352N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691995" "0" "30" "16" "2161643" "2161643" "subst" "8.01814E-5" "01943" "TSC2_004358" "g.2161643C>T" "" "" "" "PKD1(NM_001009944.2):c.3525G>A (p.P1175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691996" "0" "50" "16" "2168667" "2168667" "subst" "8.74967E-5" "01943" "PKD1_002780" "g.2168667C>T" "" "" "" "PKD1(NM_000296.3):c.529+10G>A (p.(=)), PKD1(NM_001009944.2):c.529+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704155" "0" "90" "16" "2159597" "2159597" "del" "0" "01807" "PKD1_000058" "g.2159597del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2109596del" "" "pathogenic" "" "0000725516" "0" "30" "16" "2093737" "2093738" "del" "0.000172461" "01943" "NTHL1_000232" "g.2093737_2093738del" "" "" "" "NTHL1(NM_002528.7):c.526-11_526-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725518" "0" "50" "16" "2103392" "2103392" "subst" "0.00100189" "01804" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725520" "0" "10" "16" "2137857" "2137857" "subst" "0.00229678" "02330" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725521" "0" "10" "16" "2137899" "2137899" "subst" "0.00103952" "02330" "TSC2_000630" "g.2137899G>A" "" "" "" "TSC2(NM_000548.3):c.5025G>A (p.P1675=), TSC2(NM_000548.5):c.5025G>A (p.P1675=), TSC2(NM_001370404.1):c.4893G>A (p.P1631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725522" "0" "30" "16" "2138041" "2138041" "subst" "2.44316E-5" "01943" "TSC2_004435" "g.2138041C>T" "" "" "" "TSC2(NM_001114382.2):c.5000-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725523" "0" "30" "16" "2138224" "2138224" "subst" "3.25267E-5" "01943" "TSC2_000656" "g.2138224C>G" "" "" "" "TSC2(NM_000548.5):c.5161-4C>G, TSC2(NM_001114382.2):c.5092-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725524" "0" "50" "16" "2138565" "2138565" "subst" "0.000144009" "01943" "TSC2_000792" "g.2138565G>A" "" "" "" "TSC2(NM_001114382.2):c.5309G>A (p.R1770Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725525" "0" "30" "16" "2139694" "2139694" "subst" "1.98002E-5" "02327" "PKD1_002904" "g.2139694C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725526" "0" "10" "16" "2139713" "2139713" "subst" "0.0145591" "02327" "PKD1_000932" "g.2139713C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725527" "0" "10" "16" "2139871" "2139871" "subst" "0.000505889" "02327" "PKD1_001197" "g.2139871C>T" "" "" "" "PKD1(NM_001009944.2):c.12769G>A (p.G4257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725528" "0" "10" "16" "2140010" "2140010" "subst" "0.187805" "02327" "PKD1_000778" "g.2140010A>G" "" "" "" "PKD1(NM_001009944.2):c.12630T>C (p.P4210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725529" "0" "10" "16" "2140321" "2140321" "subst" "0.0666581" "02327" "PKD1_000779" "g.2140321G>A" "" "" "" "PKD1(NM_000296.4):c.12406C>T (p.L4136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725530" "0" "10" "16" "2140454" "2140454" "subst" "0.186045" "02327" "PKD1_000780" "g.2140454T>C" "" "" "" "PKD1(NM_001009944.3):c.12276A>G (p.A4092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725531" "0" "30" "16" "2140460" "2140460" "subst" "0.000486535" "02327" "PKD1_001271" "g.2140460G>C" "" "" "" "PKD1(NM_000296.3):c.12267C>G (p.(Leu4089=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725532" "0" "30" "16" "2140535" "2140535" "subst" "5.91796E-5" "01943" "PKD1_002897" "g.2140535C>T" "" "" "" "PKD1(NM_001009944.2):c.12195G>A (p.L4065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725533" "0" "10" "16" "2140554" "2140554" "subst" "0.0655624" "02327" "PKD1_000782" "g.2140554G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725534" "0" "10" "16" "2140680" "2140680" "subst" "0.181408" "02327" "PKD1_000764" "g.2140680T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725535" "0" "50" "16" "2140780" "2140780" "subst" "0" "02325" "PKD1_002894" "g.2140780C>G" "" "" "" "PKD1(NM_001009944.3):c.12033G>C (p.Q4011H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725536" "0" "50" "16" "2140794" "2140794" "subst" "1.66142E-5" "01943" "PKD1_001315" "g.2140794G>A" "" "" "" "PKD1(NM_001009944.2):c.12019C>T (p.R4007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725537" "0" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "02326" "PKD1_000269" "g.2140803G>A" "" "" "" "PKD1(NM_001009944.2):c.12010C>T (p.Q4004*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725538" "0" "90" "16" "2140910" "2140910" "subst" "0" "02327" "PKD1_002892" "g.2140910G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725539" "0" "30" "16" "2141171" "2141171" "subst" "0.00106505" "01943" "PKD1_000812" "g.2141171C>A" "" "" "" "PKD1(NM_000296.3):c.11714G>T (p.(Cys3905Phe)), PKD1(NM_001009944.2):c.11717G>T (p.C3906F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725540" "0" "30" "16" "2141927" "2141927" "subst" "0" "02327" "PKD1_002884" "g.2141927T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725541" "0" "10" "16" "2142488" "2142488" "subst" "0.00494176" "02326" "PKD1_001438" "g.2142488C>G" "" "" "" "PKD1(NM_000296.3):c.11259G>C (p.(Leu3753=)), PKD1(NM_001009944.2):c.11262G>C (p.L3754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725542" "0" "10" "16" "2142942" "2142942" "subst" "0.0107386" "02327" "PKD1_001455" "g.2142942C>T" "" "" "" "PKD1(NM_000296.3):c.11153+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725543" "0" "90" "16" "2142955" "2142955" "subst" "0" "02327" "PKD1_000107" "g.2142955C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725544" "0" "50" "16" "2143097" "2143097" "subst" "0.00107037" "01943" "PKD1_002880" "g.2143097G>A" "" "" "" "PKD1(NM_000296.3):c.11014-3C>T (p.?), PKD1(NM_001009944.2):c.11017-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725545" "0" "50" "16" "2143546" "2143546" "subst" "0.000429801" "01943" "PKD1_000594" "g.2143546C>T" "" "" "" "LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725546" "0" "10" "16" "2143753" "2143753" "subst" "0.00799048" "02327" "PKD1_001508" "g.2143753G>A" "" "" "" "PKD1(NM_000296.3):c.10819-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725547" "0" "30" "16" "2144166" "2144166" "subst" "4.42001E-5" "01943" "TSC2_004370" "g.2144166C>T" "" "" "" "PKD1(NM_001009944.2):c.10545G>A (p.R3515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725548" "0" "10" "16" "2144176" "2144176" "subst" "0.0731451" "02327" "PKD1_000770" "g.2144176G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725549" "0" "10" "16" "2147357" "2147357" "subst" "0.00743297" "02327" "PKD1_001575" "g.2147357G>A" "" "" "" "PKD1(NM_000296.3):c.10365C>T (p.(Ala3455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725550" "0" "30" "16" "2147400" "2147400" "subst" "0.000357104" "02326" "PKD1_001582" "g.2147400G>A" "" "" "" "PKD1(NM_000296.3):c.10322C>T (p.(Ala3441Val)), PKD1(NM_001009944.2):c.10325C>T (p.A3442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725551" "0" "10" "16" "2147500" "2147500" "subst" "0.0104089" "02327" "PKD1_000819" "g.2147500C>G" "" "" "" "PKD1(NM_000296.3):c.10222G>C (p.(Val3408Leu)), PKD1(NM_001009944.2):c.10225G>C (p.V3409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725552" "0" "10" "16" "2149782" "2149782" "subst" "0.00112733" "02327" "PKD1_001634" "g.2149782G>A" "" "" "" "PKD1(NM_000296.3):c.9924-11C>T (p.(=)), PKD1(NM_001009944.2):c.9924-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725553" "0" "10" "16" "2149990" "2149990" "subst" "0.0016124" "02327" "PKD1_001643" "g.2149990G>A" "" "" "" "PKD1(NM_000296.3):c.9795C>T (p.(Ser3265=)), PKD1(NM_001009944.2):c.9795C>T (p.S3265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725554" "0" "30" "16" "2150067" "2150067" "subst" "0.000392674" "01943" "PKD1_001652" "g.2150067C>T" "" "" "" "PKD1(NM_001009944.2):c.9718G>A (p.A3240T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725555" "0" "30" "16" "2150089" "2150089" "subst" "7.24874E-5" "02327" "PKD1_001654" "g.2150089G>C" "" "" "" "PKD1(NM_000296.3):c.9713-17C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725556" "0" "30" "16" "2150171" "2150171" "subst" "4.64959E-5" "02326" "TSC2_004353" "g.2150171G>A" "" "" "" "PKD1(NM_001009944.2):c.9708C>T (p.A3236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725557" "0" "10" "16" "2150323" "2150323" "subst" "0.0378739" "02327" "PKD1_001679" "g.2150323A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725558" "0" "10" "16" "2152129" "2152129" "subst" "0.0313672" "02327" "PKD1_000773" "g.2152129A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725559" "0" "10" "16" "2152189" "2152189" "subst" "0.0100418" "02327" "PKD1_001718" "g.2152189G>A" "" "" "" "PKD1(NM_000296.3):c.9270C>T (p.(Val3090=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725560" "0" "10" "16" "2152387" "2152387" "subst" "0.155995" "02327" "TSC2_004371" "g.2152387A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725561" "0" "50" "16" "2152548" "2152548" "subst" "0.000139456" "01943" "PKD1_000559" "g.2152548G>A" "" "" "" "PKD1(NM_001009944.2):c.9035C>T (p.T3012M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725562" "0" "30" "16" "2152561" "2152561" "subst" "0.000445957" "01943" "PKD1_001756" "g.2152561C>T" "" "" "" "PKD1(NM_001009944.2):c.9022G>A (p.V3008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725563" "0" "10" "16" "2152651" "2152651" "subst" "0.160536" "02327" "PKD1_001770" "g.2152651T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725564" "0" "10" "16" "2152654" "2152654" "subst" "0.0079763" "02327" "PKD1_001771" "g.2152654C>T" "" "" "" "PKD1(NM_000296.3):c.8949-20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725565" "0" "10" "16" "2152798" "2152798" "subst" "0.00734956" "02327" "PKD1_001776" "g.2152798T>C" "" "" "" "PKD1(NM_000296.3):c.8948+17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725566" "0" "10" "16" "2152850" "2152850" "subst" "0.0076062" "02327" "PKD1_000537" "g.2152850A>G" "" "" "" "PKD1(NM_000296.3):c.8913T>C (p.(Ala2971=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725567" "0" "50" "16" "2153486" "2153486" "subst" "5.5654E-5" "01943" "PKD1_000114" "g.2153486C>T" "" "" "" "PKD1(NM_001009944.2):c.8572G>A (p.G2858S), PKD1(NM_001009944.3):c.8572G>A (p.G2858S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725568" "0" "30" "16" "2153486" "2153486" "subst" "5.5654E-5" "02325" "PKD1_000114" "g.2153486C>T" "" "" "" "PKD1(NM_001009944.2):c.8572G>A (p.G2858S), PKD1(NM_001009944.3):c.8572G>A (p.G2858S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725569" "0" "30" "16" "2153508" "2153508" "subst" "0.000338318" "01943" "PKD1_001848" "g.2153508C>T" "" "" "" "PKD1(NM_001009944.2):c.8550G>A (p.S2850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725570" "0" "50" "16" "2153594" "2153594" "subst" "0.000671702" "01943" "PKD1_001858" "g.2153594C>T" "" "" "" "PKD1(NM_001009944.2):c.8464G>A (p.V2822M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725571" "0" "30" "16" "2153694" "2153694" "subst" "0.00105915" "01943" "PKD1_000570" "g.2153694C>T" "" "" "" "PKD1(NM_000296.3):c.8364G>A (p.(Ser2788=)), PKD1(NM_001009944.2):c.8364G>A (p.S2788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725572" "0" "30" "16" "2154531" "2154531" "subst" "0.000314956" "02325" "PKD1_001913" "g.2154531G>T" "" "" "" "PKD1(NM_001009944.3):c.8129C>A (p.T2710N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725573" "0" "30" "16" "2154541" "2154541" "subst" "0.000674966" "02326" "TSC2_004372" "g.2154541C>T" "" "" "" "PKD1(NM_000296.3):c.8119G>A (p.(Val2707Met)), PKD1(NM_001009944.2):c.8119G>A (p.V2707M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725574" "0" "30" "16" "2154549" "2154549" "subst" "0.00142352" "02326" "PKD1_000588" "g.2154549G>A" "" "" "" "PKD1(NM_000296.3):c.8111C>T (p.(Ala2704Val)), PKD1(NM_001009944.2):c.8111C>T (p.A2704V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725575" "0" "30" "16" "2154551" "2154551" "subst" "0.0013471" "02326" "PKD1_001914" "g.2154551G>A" "" "" "" "PKD1(NM_000296.3):c.8109C>T (p.(Thr2703=)), PKD1(NM_001009944.2):c.8109C>T (p.T2703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725576" "0" "30" "16" "2154573" "2154573" "subst" "0.000152359" "02326" "PKD1_001915" "g.2154573A>G" "" "" "" "PKD1(NM_001009944.2):c.8087T>C (p.L2696P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725577" "0" "10" "16" "2154623" "2154623" "subst" "0.00212447" "02327" "PKD1_001922" "g.2154623T>C" "" "" "" "PKD1(NM_001009944.2):c.8037A>G (p.V2679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725578" "0" "10" "16" "2154640" "2154640" "subst" "0.00921845" "02327" "PKD1_000721" "g.2154640G>A" "" "" "" "PKD1(NM_000296.3):c.8020C>T (p.(Pro2674Ser)), PKD1(NM_001009944.2):c.8020C>T (p.P2674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725579" "0" "50" "16" "2155330" "2155330" "subst" "0" "01943" "TSC2_004373" "g.2155330T>C" "" "" "" "PKD1(NM_001009944.2):c.8009A>G (p.Q2670R, p.(Gln2670Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725580" "0" "10" "16" "2155426" "2155426" "subst" "0.0425094" "02327" "PKD1_000723" "g.2155426T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725581" "0" "50" "16" "2155894" "2155894" "subst" "7.87484E-5" "01943" "PKD1_001965" "g.2155894G>A" "" "" "" "PKD1(NM_001009944.2):c.7835C>T (p.S2612L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725582" "0" "10" "16" "2156021" "2156021" "subst" "0.0914472" "02327" "PKD1_000724" "g.2156021A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725583" "0" "10" "16" "2156153" "2156153" "subst" "0.00666958" "02327" "PKD1_001051" "g.2156153C>G" "" "" "" "PKD1(NM_000296.3):c.7642G>C (p.(Glu2548Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725584" "0" "30" "16" "2156159" "2156159" "subst" "0.00164739" "02326" "PKD1_000476" "g.2156159G>A" "" "" "" "PKD1(NM_000296.3):c.7636C>T (p.(His2546Tyr)), PKD1(NM_001009944.2):c.7636C>T (p.H2546Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725585" "0" "90" "16" "2156240" "2156240" "subst" "0" "02327" "PKD1_002005" "g.2156240G>A" "" "" "" "PKD1(NM_001009944.2):c.7555C>T (p.Q2519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725586" "0" "70" "16" "2156249" "2156249" "subst" "0" "02327" "PKD1_000292" "g.2156249G>A" "" "" "" "PKD1(NM_001009944.2):c.7546C>T (p.(Arg2516Cys), p.R2516C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725587" "0" "10" "16" "2156447" "2156447" "subst" "0.154816" "02327" "PKD1_000725" "g.2156447G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725588" "0" "90" "16" "2156481" "2156481" "del" "0" "02326" "PKD1_002034" "g.2156481del" "" "" "" "PKD1(NM_001009944.2):c.7409delC (p.P2470Rfs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725589" "0" "70" "16" "2156545" "2156545" "subst" "0" "02326" "TSC2_004374" "g.2156545A>C" "" "" "" "PKD1(NM_001009944.2):c.7343T>G (p.L2448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725590" "0" "10" "16" "2156850" "2156850" "subst" "0.142392" "02327" "PKD1_000728" "g.2156850A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725591" "0" "70" "16" "2156900" "2156900" "subst" "0" "02326" "PKD1_002080" "g.2156900G>A" "" "" "" "PKD1(NM_001009944.2):c.7115C>T (p.S2372F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725592" "0" "90" "16" "2158585" "2158591" "dup" "0" "02326" "TSC2_004375" "g.2158585_2158591dup" "" "" "" "PKD1(NM_001009944.2):c.6583_6589dupTGCCAGC (p.R2197Lfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725593" "0" "10" "16" "2158837" "2158837" "subst" "0.00091047" "02326" "PKD1_000834" "g.2158837C>T" "" "" "" "PKD1(NM_001009944.2):c.6331G>A (p.E2111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725594" "0" "10" "16" "2159316" "2159316" "subst" "0.00050912" "02327" "TSC2_004376" "g.2159316C>T" "" "" "" "PKD1(NM_001009944.2):c.5852G>A (p.R1951Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725595" "0" "10" "16" "2159341" "2159341" "subst" "0.0096911" "02327" "PKD1_001075" "g.2159341C>T" "" "" "" "PKD1(NM_000296.3):c.5827G>A (p.(Val1943Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725596" "0" "10" "16" "2159405" "2159405" "subst" "0.0310929" "02327" "PKD1_000732" "g.2159405C>T" "" "" "" "PKD1(NM_000296.3):c.5763G>A (p.(Leu1921=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725597" "0" "30" "16" "2159480" "2159480" "subst" "6.32463E-5" "01943" "TSC2_004377" "g.2159480G>C" "" "" "" "PKD1(NM_001009944.2):c.5688C>G (p.S1896R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725598" "0" "90" "16" "2159546" "2159546" "subst" "0" "02326" "PKD1_000036" "g.2159546C>T" "" "" "" "PKD1(NM_000296.3):c.5622G>A (p.(Trp1874*)), PKD1(NM_001009944.2):c.5622G>A (p.W1874*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725599" "0" "30" "16" "2159591" "2159591" "subst" "0.000324729" "02326" "PKD1_001125" "g.2159591A>G" "" "" "" "PKD1(NM_000296.3):c.5577T>C (p.(Ala1859=)), PKD1(NM_001009944.2):c.5577T>C (p.A1859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725600" "0" "10" "16" "2159714" "2159714" "subst" "0.00958397" "02327" "PKD1_002271" "g.2159714C>T" "" "" "" "PKD1(NM_000296.3):c.5454G>A (p.(Ala1818=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725601" "0" "30" "16" "2159795" "2159795" "subst" "0.000687954" "02326" "PKD1_002278" "g.2159795G>A" "" "" "" "PKD1(NM_000296.3):c.5373C>T (p.(Asn1791=)), PKD1(NM_001009944.2):c.5373C>T (p.N1791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725602" "0" "30" "16" "2159861" "2159861" "subst" "0.000187875" "02326" "PKD1_002285" "g.2159861A>G" "" "" "" "PKD1(NM_000296.3):c.5307T>C (p.(His1769=)), PKD1(NM_001009944.2):c.5307T>C (p.H1769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725603" "0" "30" "16" "2159909" "2159909" "subst" "5.73404E-5" "01943" "TSC2_004378" "g.2159909G>C" "" "" "" "PKD1(NM_001009944.2):c.5259C>G (p.S1753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725604" "0" "10" "16" "2159996" "2159996" "subst" "0.160191" "02327" "PKD1_000733" "g.2159996G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725605" "0" "30" "16" "2160205" "2160205" "subst" "0.000336074" "02326" "PKD1_001078" "g.2160205C>A" "" "" "" "PKD1(NM_001009944.2):c.4963G>T (p.V1655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725606" "0" "10" "16" "2160503" "2160503" "subst" "0.163281" "02327" "PKD1_000738" "g.2160503T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725607" "0" "30" "16" "2160693" "2160693" "subst" "3.33553E-5" "02326" "PKD1_000739" "g.2160693C>G" "" "" "" "PKD1(NM_001009944.2):c.4475G>C (p.(Arg1492Pro), p.R1492P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725608" "0" "10" "16" "2160904" "2160904" "subst" "0.00592388" "02327" "PKD1_000662" "g.2160904C>T" "" "" "" "PKD1(NM_000296.3):c.4264G>A (p.(Ala1422Thr)), PKD1(NM_001009944.2):c.4264G>A (p.A1422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725609" "0" "30" "16" "2160905" "2160905" "subst" "0.00100491" "02326" "PKD1_002373" "g.2160905G>A" "" "" "" "PKD1(NM_000296.3):c.4263C>T (p.(Ala1421=)), PKD1(NM_001009944.2):c.4263C>T (p.A1421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725610" "0" "10" "16" "2160973" "2160973" "subst" "0.0646496" "02327" "PKD1_000741" "g.2160973A>G" "" "" "" "PKD1(NM_000296.3):c.4195delinsC (p.(Trp1399Arg)), PKD1(NM_000296.4):c.4195T>C (p.W1399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725611" "0" "30" "16" "2161017" "2161017" "subst" "9.03595E-5" "02326" "TSC2_004379" "g.2161017G>A" "" "" "" "PKD1(NM_001009944.2):c.4151C>T (p.T1384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725612" "0" "90" "16" "2161098" "2161098" "del" "0" "02326" "PKD1_000383" "g.2161098del" "" "" "" "PKD1(NM_001009944.2):c.4070del (p.(Leu1357Argfs*9)), PKD1(NM_001009944.2):c.4070delT (p.L1357Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725613" "0" "30" "16" "2161264" "2161264" "subst" "1.26059E-5" "01943" "TSC2_004380" "g.2161264C>T" "" "" "" "PKD1(NM_000296.3):c.3904G>A (p.(Ala1302Thr)), PKD1(NM_001009944.2):c.3904G>A (p.A1302T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725614" "0" "30" "16" "2161467" "2161467" "subst" "6.73786E-5" "01943" "TSC2_004381" "g.2161467G>A" "" "" "" "PKD1(NM_001009944.2):c.3701C>T (p.A1234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725616" "0" "30" "16" "2161553" "2161553" "subst" "5.0902E-6" "01943" "TSC2_004382" "g.2161553A>G" "" "" "" "PKD1(NM_001009944.2):c.3615T>C (p.D1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725617" "0" "30" "16" "2161568" "2161568" "subst" "0.000519873" "02326" "PKD1_002443" "g.2161568C>T" "" "" "" "PKD1(NM_001009944.2):c.3600G>A (p.A1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725618" "0" "30" "16" "2161673" "2161673" "subst" "0.000362024" "02326" "PKD1_000850" "g.2161673G>A" "" "" "" "PKD1(NM_000296.3):c.3495C>T (p.(Asp1165=)), PKD1(NM_001009944.2):c.3495C>T (p.D1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725619" "0" "30" "16" "2161724" "2161724" "subst" "0.00185722" "02326" "PKD1_002456" "g.2161724C>T" "" "" "" "PKD1(NM_001009944.2):c.3444G>A (p.P1148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725620" "0" "30" "16" "2161739" "2161739" "subst" "0" "02326" "TSC2_004383" "g.2161739G>A" "" "" "" "PKD1(NM_001009944.2):c.3429C>T (p.P1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725621" "0" "10" "16" "2161793" "2161793" "subst" "0.0882051" "02327" "PKD1_000744" "g.2161793G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725622" "0" "10" "16" "2161796" "2161796" "subst" "0.0884395" "02327" "PKD1_000745" "g.2161796G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725623" "0" "30" "16" "2161852" "2161852" "subst" "0.00236035" "01943" "PKD1_001090" "g.2161852G>C" "" "" "" "PKD1(NM_000296.3):c.3316C>G (p.(Leu1106Val)), PKD1(NM_001009944.2):c.3316C>G (p.L1106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725624" "0" "30" "16" "2161852" "2161852" "subst" "0.00236035" "02326" "PKD1_001090" "g.2161852G>C" "" "" "" "PKD1(NM_000296.3):c.3316C>G (p.(Leu1106Val)), PKD1(NM_001009944.2):c.3316C>G (p.L1106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725625" "0" "10" "16" "2161887" "2161887" "subst" "0.00293832" "02327" "PKD1_000852" "g.2161887C>T" "" "" "" "PKD1(NM_000296.3):c.3296-15G>A (p.(=)), PKD1(NM_001009944.2):c.3296-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725626" "0" "10" "16" "2162361" "2162361" "subst" "0.0706129" "02327" "PKD1_000746" "g.2162361A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725627" "0" "10" "16" "2162839" "2162839" "subst" "0.0380086" "02327" "PKD1_000747" "g.2162839T>C" "" "" "" "PKD1(NM_000296.3):c.3111A>G (p.(Leu1037=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725628" "0" "10" "16" "2162887" "2162887" "subst" "0.104178" "02327" "PKD1_000749" "g.2162887A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725629" "0" "10" "16" "2162979" "2162979" "subst" "0.0545762" "02327" "PKD1_002511" "g.2162979G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725630" "0" "10" "16" "2163298" "2163298" "subst" "0.00855555" "02327" "PKD1_000854" "g.2163298G>A" "" "" "" "PKD1(NM_000296.3):c.2854-5C>T (p.?), PKD1(NM_001009944.2):c.2854-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725631" "0" "10" "16" "2164294" "2164294" "subst" "0.0551443" "02327" "PKD1_000750" "g.2164294G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725632" "0" "10" "16" "2164324" "2164324" "subst" "0.0552375" "02327" "PKD1_000751" "g.2164324C>T" "" "" "" "PKD1(NM_000296.4):c.2700G>A (p.P900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725633" "0" "50" "16" "2164377" "2164377" "subst" "0" "01943" "TSC2_004384" "g.2164377G>C" "" "" "" "PKD1(NM_001009944.2):c.2647C>G (p.P883A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725634" "0" "90" "16" "2164628" "2164628" "dup" "0" "02326" "TSC2_004385" "g.2164628dup" "" "" "" "PKD1(NM_001009944.2):c.2398dupG (p.A800Gfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725635" "0" "10" "16" "2164810" "2164810" "subst" "0.0063716" "02327" "PKD1_002603" "g.2164810G>C" "" "" "" "PKD1(NM_000296.3):c.2214C>G (p.(Pro738=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725636" "0" "30" "16" "2164915" "2164915" "subst" "0.000745537" "02326" "PKD1_000755" "g.2164915G>A" "" "" "" "PKD1(NM_000296.3):c.2109C>T (p.(His703=)), PKD1(NM_001009944.2):c.2109C>T (p.H703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725637" "0" "10" "16" "2165630" "2165630" "subst" "0.154674" "02327" "PKD1_000756" "g.2165630T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725638" "0" "90" "16" "2166011" "2166011" "subst" "0" "02326" "PKD1_000305" "g.2166011G>A" "" "" "" "PKD1(NM_001009944.2):c.1831C>T (p.(Arg611Trp), p.R611W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725639" "0" "30" "16" "2166127" "2166127" "subst" "6.72287E-6" "02327" "TSC2_004386" "g.2166127G>A" "" "" "" "PKD1(NM_000296.3):c.1723-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725640" "0" "30" "16" "2166128" "2166128" "subst" "0" "02327" "TSC2_004387" "g.2166128C>A" "" "" "" "PKD1(NM_001009944.2):c.1723-9G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725641" "0" "10" "16" "2166538" "2166538" "subst" "0.00752623" "02327" "PKD1_001104" "g.2166538G>A" "" "" "" "PKD1(NM_000296.3):c.1714C>T (p.(Pro572Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725642" "0" "30" "16" "2166560" "2166560" "subst" "0.000356149" "02326" "PKD1_002675" "g.2166560G>A" "" "" "" "PKD1(NM_001009944.2):c.1692C>T (p.D564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725643" "0" "30" "16" "2166816" "2166816" "subst" "0" "02327" "TSC2_004388" "g.2166816G>A" "" "" "" "PKD1(NM_001009944.2):c.1606+18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725644" "0" "30" "16" "2167594" "2167594" "subst" "0.00112731" "02326" "PKD1_001107" "g.2167594C>T" "" "" "" "PKD1(NM_001009944.2):c.1281G>A (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725646" "0" "30" "16" "2167820" "2167820" "subst" "0" "02327" "PKD1_002728" "g.2167820G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725647" "0" "10" "16" "2167874" "2167874" "subst" "0.896737" "02327" "PKD1_000859" "g.2167874G>A" "" "" "" "PKD1(NM_001009944.2):c.1119C>T (p.L373=), PKD1(NM_001009944.3):c.1119C>T (p.L373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725648" "0" "30" "16" "2167895" "2167895" "subst" "1.02705E-5" "01943" "TSC2_004390" "g.2167895C>T" "" "" "" "PKD1(NM_001009944.2):c.1098G>A (p.S366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725649" "0" "10" "16" "2167970" "2167970" "subst" "0.0495596" "02327" "PKD1_001108" "g.2167970G>A" "" "" "" "PKD1(NM_000296.3):c.1023C>T (p.(Ala341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725650" "0" "30" "16" "2168696" "2168696" "subst" "0" "02327" "TSC2_004391" "g.2168696G>A" "" "" "" "PKD1(NM_000296.3):c.510C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730505" "0" "90" "16" "2158926" "2158926" "del" "0" "03779" "PKD1_002857" "g.2158926del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000791686" "0" "50" "16" "2158530" "2158530" "subst" "0" "01741" "PKD1_002858" "g.2158530C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000807133" "0" "90" "16" "2093728" "2093728" "subst" "8.60472E-5" "02329" "NTHL1_000228" "g.2093728C>T" "" "" "" "NTHL1(NM_002528.7):c.526-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807137" "0" "50" "16" "2098584" "2098584" "subst" "4.06732E-6" "01943" "TSC2_004448" "g.2098584A>C" "" "" "" "TSC2(NM_001114382.2):c.-29-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000807139" "0" "50" "16" "2100422" "2100422" "subst" "0" "01943" "TSC2_004447" "g.2100422C>T" "" "" "" "TSC2(NM_001114382.2):c.160C>T (p.L54F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807140" "0" "50" "16" "2110730" "2110730" "subst" "8.12262E-6" "01943" "TSC2_004445" "g.2110730C>A" "" "" "" "TSC2(NM_000548.3):c.1035C>A (p.L345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807141" "0" "10" "16" "2112941" "2112941" "subst" "0.00378077" "02369" "TSC2_000396" "g.2112941C>G" "" "" "" "TSC2(NM_000548.3):c.1362-32C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807142" "0" "50" "16" "2113013" "2113013" "subst" "0" "01943" "TSC2_003295" "g.2113013G>A" "" "" "" "TSC2(NM_001114382.2):c.1402G>A (p.V468M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807144" "0" "50" "16" "2121610" "2121610" "subst" "0.00032179" "01943" "TSC2_000236" "g.2121610G>A" "" "" "" "TSC2(NM_001114382.2):c.1939G>A (p.D647N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807145" "0" "30" "16" "2122371" "2122371" "subst" "0" "01943" "TSC2_004444" "g.2122371T>G" "" "" "" "TSC2(NM_001114382.2):c.2220+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807146" "0" "50" "16" "2125824" "2125824" "subst" "0" "01943" "TSC2_004443" "g.2125824A>G" "" "" "" "TSC2(NM_001114382.2):c.2570A>G (p.Y857C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807147" "0" "50" "16" "2129652" "2129652" "subst" "4.60762E-5" "01943" "TSC2_002628" "g.2129652C>T" "" "" "" "TSC2(NM_001114382.2):c.3379C>T (p.R1127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807148" "0" "30" "16" "2130189" "2130189" "subst" "0.000472228" "02330" "TSC2_000782" "g.2130189G>A" "" "" "" "TSC2(NM_001370404.1):c.3289G>A (p.A1097T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807149" "0" "50" "16" "2134719" "2134719" "subst" "0" "02369" "TSC2_004439" "g.2134719G>A" "" "" "" "TSC2(NM_000548.3):c.4493+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807150" "0" "30" "16" "2135045" "2135045" "subst" "4.07166E-6" "02369" "TSC2_004436" "g.2135045C>T" "" "" "" "TSC2(NM_000548.3):c.4569+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807151" "0" "50" "16" "2137925" "2137925" "subst" "0" "02327" "TSC2_001741" "g.2137925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807152" "0" "30" "16" "2138373" "2138373" "dup" "0" "02369" "TSC2_004432" "g.2138373dup" "" "" "" "TSC2(NM_000548.3):c.5259+47dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807153" "0" "30" "16" "2138461" "2138461" "subst" "2.84991E-5" "02326" "TSC2_004431" "g.2138461C>T" "" "" "" "TSC2(NM_000548.3):c.5274C>T (p.A1758=), TSC2(NM_000548.5):c.5274C>T (p.A1758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807154" "0" "30" "16" "2138546" "2138546" "subst" "0.0022029" "02329" "TSC2_000301" "g.2138546G>A" "" "" "" "PKD1(NM_001009944.3):c.*1182C>T, TSC2(NM_000548.3):c.5359G>A (p.G1787S, p.(Gly1787Ser)), TSC2(NM_000548.5):c.5359G>A (p.G1787S), TSC2(NM_001114382...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807155" "0" "30" "16" "2139875" "2139875" "subst" "0.00376909" "01943" "PKD1_001199" "g.2139875G>A" "" "" "" "PKD1(NM_000296.3):c.12762C>T (p.(Pro4254=)), PKD1(NM_001009944.2):c.12765C>T (p.P4255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807156" "0" "30" "16" "2140148" "2140148" "subst" "1.2986E-5" "01943" "PKD1_002899" "g.2140148G>A" "" "" "" "PKD1(NM_000296.3):c.12489C>T (p.(Arg4163=)), PKD1(NM_001009944.2):c.12492C>T (p.R4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807157" "0" "30" "16" "2140912" "2140912" "subst" "4.95879E-6" "01943" "PKD1_002891" "g.2140912G>A" "" "" "" "PKD1(NM_001009944.2):c.11976C>T (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807158" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "02326" "PKD1_000810" "g.2140912G>C" "" "" "" "PKD1(NM_000296.3):c.11973C>G (p.(Ala3991=)), PKD1(NM_001009944.2):c.11976C>G (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807159" "0" "30" "16" "2141014" "2141014" "subst" "0" "01943" "PKD1_002890" "g.2141014G>A" "" "" "" "PKD1(NM_001009944.2):c.11874C>T (p.A3958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807160" "0" "10" "16" "2141454" "2141454" "subst" "0.017369" "02327" "PKD1_000766" "g.2141454G>A" "" "" "" "PKD1(NM_000296.3):c.11679C>T (p.(Ser3893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807161" "0" "30" "16" "2141547" "2141547" "subst" "0" "01943" "PKD1_002887" "g.2141547C>T" "" "" "" "PKD1(NM_001009944.2):c.11589G>A (p.L3863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807162" "0" "10" "16" "2142083" "2142083" "subst" "0.00445305" "02326" "PKD1_002883" "g.2142083C>G" "" "" "" "PKD1(NM_001009944.2):c.11376G>C (p.S3792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807163" "0" "90" "16" "2142954" "2142954" "subst" "0" "02327" "PKD1_001458" "g.2142954C>A" "" "" "" "PKD1(NM_001009944.2):c.11156+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807164" "0" "30" "16" "2143979" "2143979" "subst" "0.000426292" "01943" "PKD1_000598" "g.2143979C>A" "" "" "" "PKD1(NM_000296.3):c.10651G>T (p.(Ala3551Ser)), PKD1(NM_001009944.2):c.10654G>T (p.A3552S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807165" "0" "30" "16" "2144109" "2144109" "subst" "3.41254E-5" "01943" "PKD1_001542" "g.2144109C>T" "" "" "" "PKD1(NM_001009944.2):c.10602G>A (p.A3534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807166" "0" "50" "16" "2144110" "2144110" "subst" "0.000163311" "01943" "TSC2_004394" "g.2144110G>A" "" "" "" "PKD1(NM_001009944.2):c.10601C>T (p.A3534V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807167" "0" "30" "16" "2147518" "2147518" "subst" "0.000302415" "02326" "PKD1_001590" "g.2147518G>A" "" "" "" "PKD1(NM_000296.3):c.10218-14C>T (p.(=)), PKD1(NM_001009944.2):c.10221-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807168" "0" "30" "16" "2147789" "2147789" "subst" "0.000199455" "02326" "PKD1_001032" "g.2147789G>A" "" "" "" "PKD1(NM_001009944.2):c.10168-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807169" "0" "30" "16" "2149990" "2149990" "subst" "0.0016124" "02326" "PKD1_001643" "g.2149990G>A" "" "" "" "PKD1(NM_000296.3):c.9795C>T (p.(Ser3265=)), PKD1(NM_001009944.2):c.9795C>T (p.S3265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807170" "0" "50" "16" "2150170" "2150170" "subst" "9.32101E-5" "01943" "TSC2_004395" "g.2150170C>T" "" "" "" "PKD1(NM_001009944.2):c.9709G>A (p.A3237T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807171" "0" "30" "16" "2150189" "2150189" "subst" "4.16715E-6" "01943" "TSC2_004396" "g.2150189C>T" "" "" "" "PKD1(NM_001009944.2):c.9690G>A (p.V3230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807172" "0" "30" "16" "2150219" "2150219" "subst" "2.4826E-5" "01943" "TSC2_004397" "g.2150219C>T" "" "" "" "PKD1(NM_001009944.2):c.9660G>A (p.S3220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807174" "0" "90" "16" "2150418" "2150418" "subst" "0" "02326" "PKD1_001687" "g.2150418G>A" "" "" "" "PKD1(NM_001009944.2):c.9547C>T (p.R3183*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807175" "0" "50" "16" "2150429" "2150429" "subst" "0" "02326" "TSC2_004399" "g.2150429A>G" "" "" "" "PKD1(NM_001009944.2):c.9536T>C (p.V3179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807176" "0" "70" "16" "2150535" "2150535" "subst" "0" "02327" "TSC2_004400" "g.2150535C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807177" "0" "70" "16" "2152426" "2152426" "subst" "0" "02326" "TSC2_004401" "g.2152426C>G" "" "" "" "PKD1(NM_001009944.2):c.9157G>C (p.A3053P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807178" "0" "30" "16" "2152472" "2152472" "subst" "0.000618079" "02326" "PKD1_001746" "g.2152472C>T" "" "" "" "PKD1(NM_000296.3):c.9111G>A (p.(Ser3037=)), PKD1(NM_001009944.2):c.9111G>A (p.S3037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807179" "0" "10" "16" "2152561" "2152561" "subst" "0.000445957" "02326" "PKD1_001756" "g.2152561C>T" "" "" "" "PKD1(NM_001009944.2):c.9022G>A (p.V3008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807180" "0" "30" "16" "2152574" "2152574" "subst" "0.000319039" "01943" "TSC2_004402" "g.2152574C>T" "" "" "" "PKD1(NM_001009944.2):c.9009G>A (p.A3003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807181" "0" "50" "16" "2152577" "2152577" "subst" "0.000314882" "01943" "TSC2_004403" "g.2152577C>T" "" "" "" "PKD1(NM_001009944.2):c.9006G>A (p.S3002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807182" "0" "30" "16" "2152920" "2152920" "subst" "0.000147707" "01943" "TSC2_004404" "g.2152920G>A" "" "" "" "PKD1(NM_001009944.2):c.8843C>T (p.S2948L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807183" "0" "30" "16" "2153345" "2153345" "subst" "0.00163641" "02326" "PKD1_001117" "g.2153345C>T" "" "" "" "PKD1(NM_000296.3):c.8713G>A (p.(Val2905Ile)), PKD1(NM_001009944.2):c.8713G>A (p.V2905I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807184" "0" "30" "16" "2153386" "2153394" "del" "0" "02325" "PKD1_001827" "g.2153386_2153394del" "" "" "" "PKD1(NM_001009944.2):c.8666_8674delGCTCCGCCA (p.S2889_A2891del), PKD1(NM_001009944.3):c.8666_8674delGCTCCGCCA (p.S2889_A2891del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807185" "0" "30" "16" "2153714" "2153714" "subst" "0.000558008" "01943" "PKD1_001046" "g.2153714C>T" "" "" "" "PKD1(NM_000296.3):c.8344G>A (p.(Val2782Met)), PKD1(NM_001009944.2):c.8344G>A (p.V2782M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807186" "0" "30" "16" "2154492" "2154492" "subst" "0.000144286" "01943" "TSC2_004405" "g.2154492G>A" "" "" "" "PKD1(NM_000296.3):c.8161+7C>T (p.(=)), PKD1(NM_001009944.2):c.8161+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807187" "0" "30" "16" "2154542" "2154542" "subst" "0.000461963" "01943" "TSC2_004406" "g.2154542G>A" "" "" "" "PKD1(NM_000296.3):c.8118C>T (p.(Thr2706=)), PKD1(NM_001009944.2):c.8118C>T (p.T2706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807188" "0" "90" "16" "2155355" "2155355" "subst" "4.45732E-6" "02326" "PKD1_001936" "g.2155355G>A" "" "" "" "PKD1(NM_001009944.2):c.7984C>T (p.(Gln2662Ter), p.Q2662*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807189" "0" "50" "16" "2155870" "2155870" "subst" "0.00012702" "01943" "TSC2_004407" "g.2155870T>C" "" "" "" "PKD1(NM_001009944.2):c.7859A>G (p.N2620S), PKD1(NM_001009944.3):c.7859A>G (p.N2620S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807190" "0" "30" "16" "2155919" "2155919" "subst" "0.00098727" "02326" "PKD1_001971" "g.2155919C>T" "" "" "" "PKD1(NM_001009944.2):c.7810G>A (p.D2604N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807191" "0" "30" "16" "2156164" "2156164" "subst" "2.71476E-5" "01943" "TSC2_004408" "g.2156164C>T" "" "" "" "PKD1(NM_001009944.2):c.7631G>A (p.R2544K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807192" "0" "30" "16" "2156189" "2156189" "subst" "2.91189E-5" "01943" "TSC2_004409" "g.2156189C>T" "" "" "" "PKD1(NM_001009944.2):c.7606G>A (p.G2536R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807193" "0" "30" "16" "2156190" "2156190" "subst" "9.96694E-5" "02326" "PKD1_001998" "g.2156190G>A" "" "" "" "PKD1(NM_000296.3):c.7605C>T (p.(Tyr2535=)), PKD1(NM_001009944.2):c.7605C>T (p.Y2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807194" "0" "50" "16" "2156228" "2156228" "subst" "4.56625E-5" "01943" "TSC2_004410" "g.2156228C>T" "" "" "" "PKD1(NM_001009944.2):c.7567G>A (p.E2523K, p.(Glu2523Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807195" "0" "90" "16" "2156240" "2156240" "subst" "0" "02326" "PKD1_002005" "g.2156240G>A" "" "" "" "PKD1(NM_001009944.2):c.7555C>T (p.Q2519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807196" "0" "30" "16" "2156312" "2156312" "subst" "1.71737E-5" "01943" "TSC2_004411" "g.2156312G>A" "" "" "" "PKD1(NM_001009944.2):c.7490-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807197" "0" "30" "16" "2156531" "2156531" "subst" "2.23892E-5" "01943" "TSC2_004412" "g.2156531G>A" "" "" "" "PKD1(NM_001009944.2):c.7357C>T (p.R2453C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807198" "0" "90" "16" "2156895" "2156895" "subst" "0" "02326" "TSC2_004413" "g.2156895T>A" "" "" "" "PKD1(NM_001009944.2):c.7120A>T (p.K2374*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807199" "0" "30" "16" "2157984" "2157984" "subst" "0.000153726" "01943" "PKD1_001064" "g.2157984G>A" "" "" "" "PKD1(NM_000296.3):c.6965C>T (p.(Thr2322Met)), PKD1(NM_001009944.2):c.6965C>T (p.T2322M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807200" "0" "30" "16" "2158376" "2158376" "subst" "0.000114393" "01943" "PKD1_002135" "g.2158376T>G" "" "" "" "PKD1(NM_000296.3):c.6792A>C (p.(=)), PKD1(NM_001009944.2):c.6792A>C (p.S2264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807201" "0" "30" "16" "2158571" "2158571" "subst" "5.66566E-6" "01943" "TSC2_004414" "g.2158571C>T" "" "" "" "PKD1(NM_001009944.2):c.6597G>A (p.G2199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807202" "0" "90" "16" "2158944" "2158945" "ins" "0" "02326" "PKD1_000731" "g.2158944_2158945insAA" "" "" "" "PKD1(NM_001009944.2):c.6223_6224insTT (p.R2075Lfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807203" "0" "30" "16" "2158955" "2158955" "subst" "2.13752E-5" "01943" "TSC2_004415" "g.2158955G>A" "" "" "" "PKD1(NM_001009944.2):c.6213C>T (p.C2071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807204" "0" "30" "16" "2159600" "2159600" "subst" "0" "01943" "TSC2_004416" "g.2159600G>C" "" "" "" "PKD1(NM_000296.3):c.5568C>G (p.(Phe1856Leu)), PKD1(NM_001009944.2):c.5568C>G (p.F1856L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807205" "0" "50" "16" "2160184" "2160184" "subst" "2.0517E-5" "01804" "TSC2_004417" "g.2160184C>T" "" "" "" "PKD1(NM_000296.3):c.4984G>A (p.(Val1662Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807206" "0" "10" "16" "2160251" "2160251" "subst" "0.00137944" "02326" "PKD1_000736" "g.2160251G>A" "" "" "" "PKD1(NM_000296.3):c.4917C>T (p.(Gly1639=)), PKD1(NM_001009944.2):c.4917C>T (p.G1639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807207" "0" "30" "16" "2160292" "2160292" "subst" "1.63332E-5" "01943" "PKD1_002325" "g.2160292C>T" "" "" "" "PKD1(NM_001009944.2):c.4876G>A (p.V1626I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807208" "0" "30" "16" "2160332" "2160332" "subst" "0.00044876" "01943" "PKD1_002329" "g.2160332C>T" "" "" "" "PKD1(NM_000296.3):c.4836G>A (p.(Thr1612=)), PKD1(NM_001009944.2):c.4836G>A (p.T1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807209" "0" "50" "16" "2160514" "2160516" "del" "0" "02326" "PKD1_000844" "g.2160514_2160516del" "" "" "" "PKD1(NM_000296.3):c.4657_4659del (p.(Val1553del)), PKD1(NM_001009944.2):c.4657_4659delGTC (p.V1553del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807210" "0" "50" "16" "2160514" "2160516" "del" "0" "01804" "PKD1_000844" "g.2160514_2160516del" "" "" "" "PKD1(NM_000296.3):c.4657_4659del (p.(Val1553del)), PKD1(NM_001009944.2):c.4657_4659delGTC (p.V1553del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807211" "0" "30" "16" "2160637" "2160637" "subst" "0.000253568" "01943" "TSC2_004418" "g.2160637G>A" "" "" "" "PKD1(NM_001009944.2):c.4531C>T (p.P1511S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807213" "0" "30" "16" "2161117" "2161117" "subst" "0.0012075" "02326" "PKD1_000302" "g.2161117G>A" "" "" "" "PKD1(NM_000296.3):c.4051C>T (p.(Arg1351Trp)), PKD1(NM_001009944.2):c.4051C>T (p.R1351W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807214" "0" "30" "16" "2161262" "2161262" "subst" "0.000280991" "01943" "TSC2_004420" "g.2161262G>A" "" "" "" "PKD1(NM_001009944.2):c.3906C>T (p.A1302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807215" "0" "30" "16" "2161375" "2161375" "subst" "2.10102E-5" "01943" "TSC2_004421" "g.2161375G>A" "" "" "" "PKD1(NM_001009944.2):c.3793C>T (p.L1265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807216" "0" "30" "16" "2161643" "2161643" "subst" "8.01814E-5" "02326" "TSC2_004358" "g.2161643C>T" "" "" "" "PKD1(NM_001009944.2):c.3525G>A (p.P1175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807217" "0" "30" "16" "2161788" "2161788" "subst" "0.000645004" "01943" "PKD1_000669" "g.2161788G>A" "" "" "" "PKD1(NM_000296.3):c.3380C>T (p.(Pro1127Leu)), PKD1(NM_001009944.2):c.3380C>T (p.P1127L), PKD1(NM_001009944.3):c.3380C>T (p.P1127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807218" "0" "30" "16" "2161788" "2161788" "subst" "0.000645004" "02325" "PKD1_000669" "g.2161788G>A" "" "" "" "PKD1(NM_000296.3):c.3380C>T (p.(Pro1127Leu)), PKD1(NM_001009944.2):c.3380C>T (p.P1127L), PKD1(NM_001009944.3):c.3380C>T (p.P1127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807219" "0" "50" "16" "2162924" "2162941" "del" "0" "02327" "TSC2_004422" "g.2162924_2162941del" "" "" "" "PKD1(NM_001009944.2):c.3015_3032del (p.(Asn1008_Val1013del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807220" "0" "10" "16" "2164330" "2164330" "subst" "0.0129262" "02327" "PKD1_000752" "g.2164330T>G" "" "" "" "PKD1(NM_000296.3):c.2694A>C (p.(Ala898=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807221" "0" "30" "16" "2165389" "2165389" "subst" "7.48761E-6" "01943" "TSC2_004423" "g.2165389G>A" "" "" "" "PKD1(NM_000296.3):c.2087C>T (p.(Ala696Val)), PKD1(NM_001009944.2):c.2087C>T (p.A696V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807222" "0" "10" "16" "2165437" "2165437" "subst" "0.000937914" "02326" "PKD1_001100" "g.2165437T>A" "" "" "" "PKD1(NM_001009944.2):c.2039A>T (p.Y680F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807223" "0" "50" "16" "2165512" "2165512" "subst" "7.14558E-5" "01943" "PKD1_002631" "g.2165512G>A" "" "" "" "PKD1(NM_000296.3):c.1964C>T (p.(Pro655Leu)), PKD1(NM_001009944.2):c.1964C>T (p.P655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807224" "0" "30" "16" "2166545" "2166545" "subst" "0" "02326" "TSC2_004424" "g.2166545C>A" "" "" "" "PKD1(NM_001009944.2):c.1707G>T (p.P569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807225" "0" "90" "16" "2166614" "2166614" "dup" "0" "02326" "TSC2_004425" "g.2166614dup" "" "" "" "PKD1(NM_001009944.2):c.1640dupG (p.A548Sfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807226" "0" "30" "16" "2168341" "2168341" "subst" "0" "01943" "TSC2_004426" "g.2168341C>T" "" "" "" "PKD1(NM_001009944.2):c.652G>A (p.G218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807227" "0" "30" "16" "2168413" "2168413" "subst" "0.00113754" "01943" "PKD1_000698" "g.2168413C>T" "" "" "" "PKD1(NM_000296.3):c.580G>A (p.(Ala194Thr)), PKD1(NM_001009944.2):c.580G>A (p.A194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807230" "0" "50" "16" "2169323" "2169323" "subst" "7.67059E-6" "02325" "TSC2_004427" "g.2169323G>A" "" "" "" "PKD1(NM_001009944.3):c.272C>T (p.S91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811026" "0" "70" "16" "2150482" "2150482" "del" "0" "04173" "PKD1_002859" "g.2150482del" "" "" "" "9484delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100481del" "" "pathogenic (dominant)" "" "0000827811" "0" "90" "16" "2158886" "2158886" "subst" "0" "00000" "PKD1_002870" "g.2158886C>T" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.6282G>A, p.W2094X" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2108885C>T" "" "pathogenic" "ACMG" "0000827812" "0" "90" "16" "2143909" "2143910" "ins" "0" "00000" "PKD1_002864" "g.2143909_2143910insCCCT" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.10720_10721insAGGG, p.W3574Rfs*5" "different transcript, NM_000296.3(PKD1):c.10720_10721insAGGG, p.(Trp3574*), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2093908_2093909insCCCT" "" "pathogenic" "ACMG" "0000827813" "0" "90" "16" "2140420" "2140421" "del" "0" "00000" "PKD1_002860" "g.2140420_2140421del" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.12307_12308delGT, p.V4103Yfs*52" "different transcript, NM_000296.3(PKD1):c.12307_12308del, p.(Val4103Tyrfs*52), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2090419_2090420del" "" "pathogenic" "ACMG" "0000827816" "0" "90" "16" "2140420" "2140421" "del" "0" "00000" "PKD1_002860" "g.2140420_2140421del" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.12307_12308delGT, V4103fs*52" "different transcript, NM_000296.3(PKD1):c.12307_12308del, p.(Val4103Tyrfs*52), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2090419_2090420del" "" "pathogenic" "ACMG" "0000827817" "0" "70" "16" "2160078" "2160078" "subst" "0" "00000" "PKD1_002872" "g.2160078A>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.5090T>G, p.L1697R" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2110077A>C" "" "likely pathogenic" "ACMG" "0000827818" "0" "70" "16" "2141795" "2141795" "subst" "0" "00000" "PKD1_002862" "g.2141795A>G" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.11521T>C, p.W3841R" "different transcript, NM_000296.3(PKD1):c.11521T>C, p.(Trp3841Arg), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2091794A>G" "" "likely pathogenic" "ACMG" "0000827819" "0" "90" "16" "2160236" "2160236" "del" "0" "00000" "PKD1_002317" "g.2160236del" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.4935delC, p.T1646Pfs*76" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2110235del" "" "pathogenic" "ACMG" "0000827820" "0" "10" "16" "2147246" "2147246" "subst" "0.000434535" "00000" "PKD1_001564" "g.2147246G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.10403-4C > T, Non coding variant" "different transcript, NM_000296.3(PKD1):c.10403-4C>T, heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2097245G>A" "" "benign" "ACMG" "0000827821" "0" "90" "16" "2160991" "2160991" "subst" "0" "00000" "PKD1_002873" "g.2160991G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.4177C>T, p.Q1393X" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2110990G>A" "" "pathogenic" "ACMG" "0000827822" "0" "30" "16" "2141032" "2141032" "subst" "0" "00000" "PKD1_002861" "g.2141032G>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.11856C>G, p.R3952R" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2091031G>C" "" "likely benign" "ACMG" "0000827823" "0" "50" "16" "2158869" "2158869" "subst" "9.0572E-5" "00000" "PKD1_002187" "g.2158869G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.6299C>T, p.S2100L" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2108868G>A" "" "VUS" "ACMG" "0000827824" "0" "50" "16" "2153756" "2153756" "subst" "8.20553E-6" "00000" "PKD1_000117" "g.2153756C>T" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.8302G>A, p.V2768M" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2103755C>T" "" "VUS" "ACMG" "0000827825" "0" "10" "16" "2160622" "2160622" "subst" "0.00587533" "00000" "PKD1_000845" "g.2160622C>T" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.4546G>A, p.A1516T" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2110621C>T" "" "benign" "ACMG" "0000827826" "0" "90" "16" "2152433" "2152434" "ins" "0" "00000" "PKD1_002868" "g.2152433_2152434insC" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.9149_9150insG, p.A3050fs" "error in annotation, c.9149_9150insG causes p.Phe3051LeufsTer18 and not p.A3050fs, heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2102432_2102433insC" "" "pathogenic" "ACMG" "0000827827" "0" "50" "16" "2154537" "2154537" "subst" "0.00960525" "00000" "PKD1_000720" "g.2154537G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.8123C>T, p.T2708M" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2104536G>A" "" "VUS" "ACMG" "0000827828" "0" "50" "16" "2150039" "2150039" "subst" "0" "00000" "PKD1_002865" "g.2150039A>G" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.9746T>C, p.L3249P" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2100038A>G" "" "VUS" "ACMG" "0000827829" "0" "50" "16" "2159259" "2159259" "subst" "0" "00000" "PKD1_002871" "g.2159259G>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.5909C>G, p.A1970G" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2109258G>C" "" "VUS" "ACMG" "0000827830" "0" "70" "16" "2159653" "2159653" "subst" "0" "00000" "PKD1_002263" "g.2159653A>T" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.5515T>A, p.W1839R" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2109652A>T" "" "likely pathogenic" "ACMG" "0000827831" "0" "90" "16" "2143014" "2143014" "subst" "0" "00000" "PKD1_002863" "g.2143014G>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.11094C>G, p.Y3698X" "different transcript, NM_000296.3(PKD1):c.11094C>G, p.(Tyr3698*), heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2093013G>C" "" "pathogenic" "ACMG" "0000827833" "0" "90" "16" "2160153" "2160154" "del" "0" "00000" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.5014_5015del, p.R1672fs" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic" "ACMG" "0000827834" "0" "10" "16" "2154549" "2154549" "subst" "0.00142352" "00000" "PKD1_000588" "g.2154549G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.8111C>T, p.A2704V" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2104548G>A" "" "benign" "ACMG" "0000827835" "0" "30" "16" "2140596" "2140596" "subst" "0.000565692" "00000" "NTHL1_000178" "g.2140596G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.12136-5C>T, spl" "different transcript, NM_000296.3(PKD1):c.12136-5C>T, heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2090595G>A" "" "likely benign" "ACMG" "0000827882" "0" "70" "16" "2157957" "2157957" "subst" "0" "00000" "PKD1_002869" "g.2157957G>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.6992C>G, p.A2331G" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2107956G>C" "" "likely pathogenic" "ACMG" "0000827883" "0" "70" "16" "2157957" "2157957" "subst" "0" "00000" "PKD1_002869" "g.2157957G>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.6992C>G, p.A2331G" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2107956G>C" "" "likely pathogenic" "ACMG" "0000827884" "0" "10" "16" "2154478" "2154478" "subst" "0.628102" "00000" "PKD1_001049" "g.2154478A>G" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.8161+21T>C, Non coding variant" "homozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2104477A>G" "" "benign" "ACMG" "0000827885" "0" "50" "16" "2164211" "2164211" "subst" "0" "00000" "PKD1_002874" "g.2164211G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.2813C>T, p.T938M" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2114210G>A" "" "VUS" "ACMG" "0000827886" "0" "50" "16" "2165395" "2165395" "subst" "0" "00000" "PKD1_001098" "g.2165395G>A" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.2081C>T, p.P694L" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2115394G>A" "" "VUS" "ACMG" "0000827890" "0" "10" "16" "2153345" "2153345" "subst" "0.00163641" "00000" "PKD1_001117" "g.2153345C>T" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.8713G>A, p.V2905I" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2103344C>T" "" "benign" "ACMG" "0000827891" "0" "30" "16" "2161666" "2161666" "subst" "2.82393E-5" "00000" "PKD1_001132" "g.2161666G>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.3502C>G, p.P1168A" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2111665G>C" "" "likely benign" "ACMG" "0000827892" "0" "50" "16" "2150245" "2150245" "subst" "1.23061E-5" "00000" "PKD1_002867" "g.2150245A>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.9634T>G, p.F3212V" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2100244A>C" "" "VUS" "ACMG" "0000827893" "0" "50" "16" "2150244" "2150244" "subst" "1.23104E-5" "00000" "PKD1_002866" "g.2150244A>G" "" "{PMID:Zacchia 2021:33964006}" "" "PKD1 c.9635T>C, p.F3212S" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.2100243A>G" "" "VUS" "ACMG" "0000840980" "0" "50" "16" "2164871" "2164871" "subst" "0" "03779" "PKD1_002906" "g.2164871T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000847033" "0" "70" "16" "2147730" "2147730" "subst" "0" "03779" "PKD1_000908" "g.2147730T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000854318" "0" "30" "16" "2097781" "2097781" "subst" "0.000224567" "02330" "NTHL1_000262" "g.2097781A>G" "" "" "" "NTHL1(NM_002528.7):c.44T>C (p.L15P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854319" "0" "30" "16" "2103368" "2103368" "subst" "0.000326174" "02330" "TSC2_000718" "g.2103368C>T" "" "" "" "TSC2(NM_000548.3):c.251C>T (p.A84V), TSC2(NM_000548.5):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854320" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02326" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854321" "0" "50" "16" "2104402" "2104402" "subst" "0" "02325" "TSC2_001973" "g.2104402G>A" "" "" "" "TSC2(NM_000548.5):c.442G>A (p.D148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854322" "0" "50" "16" "2106745" "2106745" "subst" "0" "02369" "TSC2_001985" "g.2106745A>G" "" "" "" "TSC2(NM_000548.3):c.749A>G (p.K250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854323" "0" "30" "16" "2112521" "2112521" "subst" "0.00171838" "01804" "TSC2_000064" "g.2112521C>A" "" "" "" "TSC2(NM_000548.3):c.1281C>A (p.I427=, p.(Ile427=)), TSC2(NM_000548.5):c.1281C>A (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854324" "0" "30" "16" "2124203" "2124203" "subst" "8.20028E-6" "02326" "TSC2_001470" "g.2124203C>T" "" "" "" "TSC2(NM_000548.3):c.2358C>T (p.R786=), TSC2(NM_000548.5):c.2358C>T (p.R786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854325" "0" "30" "16" "2129045" "2129045" "subst" "0.000863178" "01804" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854326" "0" "30" "16" "2129192" "2129192" "subst" "1.22081E-5" "01943" "TSC2_004362" "g.2129192G>A" "" "" "" "TSC2(NM_001114382.2):c.3126G>A (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000854327" "0" "10" "16" "2129192" "2129192" "subst" "0.00313342" "02326" "TSC2_000499" "g.2129192G>C" "" "" "" "TSC2(NM_000548.3):c.3126G>C (p.P1042=), TSC2(NM_000548.5):c.3126G>C (p.P1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854328" "0" "50" "16" "2130243" "2130243" "subst" "0.000383095" "01943" "TSC2_000762" "g.2130243C>T" "" "" "" "TSC2(NM_000548.5):c.3475C>T (p.R1159W), TSC2(NM_001114382.2):c.3475C>T (p.R1159W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854329" "0" "50" "16" "2130319" "2130319" "subst" "2.03764E-5" "01943" "TSC2_004310" "g.2130319C>T" "" "" "" "TSC2(NM_000548.5):c.3551C>T (p.A1184V), TSC2(NM_001114382.2):c.3551C>T (p.A1184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854330" "0" "50" "16" "2135282" "2135282" "subst" "0" "02325" "TSC2_001949" "g.2135282G>A" "" "" "" "TSC2(NM_000548.5):c.4621G>A (p.D1541N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854331" "0" "30" "16" "2135341" "2135341" "subst" "0.000130828" "02326" "TSC2_000023" "g.2135341G>A" "" "" "" "TSC2(NM_000548.3):c.4662+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854332" "0" "30" "16" "2136812" "2136812" "subst" "7.43691E-5" "02330" "TSC2_003228" "g.2136812C>T" "" "" "" "TSC2(NM_001370404.1):c.4797C>T (p.N1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854333" "0" "90" "16" "2137942" "2137942" "subst" "0" "02327" "TSC2_000998" "g.2137942G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854334" "0" "30" "16" "2138097" "2138097" "subst" "7.32625E-5" "01943" "TSC2_000944" "g.2138097G>A" "" "" "" "PKD1(NM_001009944.3):c.*1631C>T, TSC2(NM_000548.5):c.5117G>A (p.R1706H), TSC2(NM_001114382.2):c.5048G>A (p.R1683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854335" "0" "30" "16" "2139871" "2139871" "subst" "0.000505889" "01943" "PKD1_001197" "g.2139871C>T" "" "" "" "PKD1(NM_001009944.2):c.12769G>A (p.G4257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854336" "0" "30" "16" "2139950" "2139950" "subst" "0.000215583" "01943" "NTHL1_000277" "g.2139950G>A" "" "" "" "PKD1(NM_001009944.2):c.12690C>T (p.N4230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854337" "0" "90" "16" "2140576" "2140576" "dup" "0" "02326" "NTHL1_000282" "g.2140576dup" "" "" "" "PKD1(NM_001009944.2):c.12154dupG (p.V4052Gfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854338" "0" "30" "16" "2140923" "2140923" "subst" "0.00019949" "01943" "NTHL1_000284" "g.2140923C>T" "" "" "" "PKD1(NM_001009944.2):c.11965G>A (p.G3989S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854339" "0" "50" "16" "2141134" "2141134" "subst" "0" "02326" "NTHL1_000290" "g.2141134C>G" "" "" "" "PKD1(NM_001009944.2):c.11754G>C (p.E3918D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854340" "0" "30" "16" "2141448" "2141448" "subst" "0.000665188" "01943" "NTHL1_000294" "g.2141448G>A" "" "" "" "PKD1(NM_001009944.2):c.11688C>T (p.G3896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854341" "0" "30" "16" "2141547" "2141547" "subst" "0" "02326" "PKD1_002887" "g.2141547C>T" "" "" "" "PKD1(NM_001009944.2):c.11589G>A (p.L3863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854342" "0" "30" "16" "2141853" "2141853" "subst" "0" "01943" "NTHL1_000299" "g.2141853C>A" "" "" "" "PKD1(NM_001009944.2):c.11466G>T (p.E3822D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854343" "0" "90" "16" "2142112" "2142119" "del" "0" "02327" "PKD1_000069" "g.2142112_2142119del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854344" "0" "30" "16" "2142122" "2142122" "subst" "0.000746555" "02326" "PKD1_001423" "g.2142122G>C" "" "" "" "PKD1(NM_001009944.2):c.11337C>G (p.S3779R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854345" "0" "70" "16" "2142492" "2142492" "subst" "0" "02327" "PKD1_000329" "g.2142492C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854346" "0" "30" "16" "2143650" "2143650" "subst" "2.97493E-5" "01943" "NTHL1_000307" "g.2143650C>T" "" "" "" "PKD1(NM_001009944.2):c.10911G>A (p.T3637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854347" "0" "70" "16" "2143732" "2143732" "subst" "0" "02326" "TSC2_004449" "g.2143732A>C" "" "" "" "PKD1(NM_001009944.2):c.10829T>G (p.L3610R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854348" "0" "30" "16" "2143751" "2143751" "del" "0" "02326" "PKD1_001507" "g.2143751del" "" "" "" "PKD1(NM_000296.3):c.10819-8delC (p.(=)), PKD1(NM_001009944.2):c.10822-8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854349" "0" "50" "16" "2144014" "2144014" "subst" "0.000198864" "01943" "PKD1_001026" "g.2144014C>G" "" "" "" "PKD1(NM_000296.3):c.10616G>C (p.(Gly3539Ala)), PKD1(NM_001009944.2):c.10619G>C (p.G3540A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854350" "0" "30" "16" "2144109" "2144109" "subst" "3.41254E-5" "02326" "PKD1_001542" "g.2144109C>T" "" "" "" "PKD1(NM_001009944.2):c.10602G>A (p.A3534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854351" "0" "30" "16" "2144109" "2144109" "subst" "3.41254E-5" "02327" "PKD1_001542" "g.2144109C>T" "" "" "" "PKD1(NM_001009944.2):c.10602G>A (p.A3534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854352" "0" "10" "16" "2147325" "2147325" "subst" "0.000361135" "02326" "PKD1_000818" "g.2147325G>A" "" "" "" "PKD1(NM_001009944.2):c.10400C>T (p.A3467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854353" "0" "30" "16" "2147722" "2147722" "subst" "4.09108E-6" "01943" "TSC2_004457" "g.2147722A>C" "" "" "" "PKD1(NM_001009944.2):c.10220+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854354" "0" "50" "16" "2149704" "2149704" "subst" "7.53022E-5" "01943" "TSC2_004460" "g.2149704C>T" "" "" "" "PKD1(NM_001009944.2):c.9991G>A (p.V3331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854355" "0" "10" "16" "2149782" "2149782" "subst" "0.00112733" "02326" "PKD1_001634" "g.2149782G>A" "" "" "" "PKD1(NM_000296.3):c.9924-11C>T (p.(=)), PKD1(NM_001009944.2):c.9924-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854356" "0" "50" "16" "2149944" "2149944" "subst" "0" "02326" "TSC2_004462" "g.2149944C>G" "" "" "" "PKD1(NM_001009944.2):c.9841G>C (p.A3281P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854357" "0" "90" "16" "2150263" "2150263" "subst" "0" "02326" "PKD1_000073" "g.2150263G>A" "" "" "" "PKD1(NM_001009944.2):c.9616C>T (p.Q3206*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854358" "0" "30" "16" "2150389" "2150389" "subst" "1.22286E-5" "01943" "TSC2_004464" "g.2150389G>A" "" "" "" "PKD1(NM_001009944.2):c.9568+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854359" "0" "30" "16" "2150459" "2150459" "subst" "0.00061188" "02326" "PKD1_000623" "g.2150459C>T" "" "" "" "PKD1(NM_001009944.2):c.9506G>A (p.R3169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854360" "0" "70" "16" "2152830" "2152832" "del" "0" "02326" "PKD1_000161" "g.2152830_2152832del" "" "" "" "PKD1(NM_001009944.2):c.8935_8937del (p.(Phe2979del)), PKD1(NM_001009944.2):c.8935_8937delTTC (p.F2979del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854361" "0" "30" "16" "2153386" "2153394" "del" "0" "01943" "PKD1_001827" "g.2153386_2153394del" "" "" "" "PKD1(NM_001009944.2):c.8666_8674delGCTCCGCCA (p.S2889_A2891del), PKD1(NM_001009944.3):c.8666_8674delGCTCCGCCA (p.S2889_A2891del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854362" "0" "90" "16" "2153629" "2153630" "del" "0" "02327" "TSC2_004471" "g.2153629_2153630del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854363" "0" "30" "16" "2153871" "2153871" "subst" "0.00175651" "02326" "PKD1_001896" "g.2153871C>T" "" "" "" "PKD1(NM_000296.3):c.8187G>A (p.(Ser2729=)), PKD1(NM_001009944.2):c.8187G>A (p.S2729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854364" "0" "30" "16" "2154487" "2154487" "subst" "0.000457788" "02326" "PKD1_001908" "g.2154487G>A" "" "" "" "PKD1(NM_001009944.2):c.8161+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854365" "0" "30" "16" "2155881" "2155881" "subst" "0.000433446" "01943" "TSC2_004485" "g.2155881G>A" "" "" "" "PKD1(NM_001009944.2):c.7848C>T (p.V2616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854366" "0" "50" "16" "2155919" "2155919" "subst" "0.00098727" "01943" "PKD1_001971" "g.2155919C>T" "" "" "" "PKD1(NM_001009944.2):c.7810G>A (p.D2604N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854367" "0" "30" "16" "2156459" "2156459" "subst" "0.00116944" "02326" "PKD1_001058" "g.2156459G>A" "" "" "" "PKD1(NM_000296.3):c.7429C>T (p.(Arg2477Cys)), PKD1(NM_001009944.2):c.7429C>T (p.R2477C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854368" "0" "30" "16" "2158239" "2158239" "subst" "0.000896335" "02326" "PKD1_002114" "g.2158239T>C" "" "" "" "PKD1(NM_000296.3):c.6915+14A>G (p.(=)), PKD1(NM_001009944.2):c.6915+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854369" "0" "90" "16" "2158469" "2158472" "del" "0" "02326" "PKD1_002143" "g.2158469_2158472del" "" "" "" "PKD1(NM_001009944.2):c.6696_6699delTGTC (p.F2232Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854370" "0" "30" "16" "2158772" "2158772" "subst" "2.19387E-5" "02326" "TSC2_004501" "g.2158772G>A" "" "" "" "PKD1(NM_001009944.2):c.6396C>T (p.F2132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854371" "0" "50" "16" "2158773" "2158773" "subst" "0.00031295" "01943" "PKD1_001069" "g.2158773A>C" "" "" "" "PKD1(NM_000296.3):c.6395T>G (p.(Phe2132Cys)), PKD1(NM_001009944.2):c.6395T>G (p.F2132C), PKD1(NM_001009944.3):c.6395T>G (p.F2132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854372" "0" "30" "16" "2158805" "2158805" "subst" "0.00067166" "02326" "PKD1_002183" "g.2158805G>A" "" "" "" "PKD1(NM_001009944.2):c.6363C>T (p.R2121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854373" "0" "30" "16" "2158988" "2158988" "subst" "6.66106E-5" "01943" "TSC2_004505" "g.2158988G>A" "" "" "" "PKD1(NM_001009944.2):c.6180C>T (p.A2060=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854374" "0" "10" "16" "2159396" "2159396" "subst" "0.000894314" "02326" "PKD1_002240" "g.2159396G>A" "" "" "" "PKD1(NM_001009944.2):c.5772C>T (p.G1924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854375" "0" "30" "16" "2159520" "2159520" "subst" "0.000175393" "02326" "TSC2_004512" "g.2159520G>A" "" "" "" "PKD1(NM_001009944.2):c.5648C>T (p.A1883V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854376" "0" "90" "16" "2160153" "2160154" "del" "0" "02326" "PKD1_000059" "g.2160153_2160154del" "" "" "" "PKD1(NM_001009944.2):c.5014_5015del (p.(Arg1672GlyfsTer98)), PKD1(NM_001009944.2):c.5014_5015delAG (p.R1672Gfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854377" "0" "30" "16" "2160332" "2160332" "subst" "0.00044876" "02326" "PKD1_002329" "g.2160332C>T" "" "" "" "PKD1(NM_000296.3):c.4836G>A (p.(Thr1612=)), PKD1(NM_001009944.2):c.4836G>A (p.T1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854378" "0" "30" "16" "2160484" "2160484" "subst" "0.000968303" "02326" "PKD1_002339" "g.2160484G>A" "" "" "" "PKD1(NM_001009944.2):c.4684C>T (p.L1562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854379" "0" "50" "16" "2160529" "2160529" "subst" "8.20338E-6" "02329" "TSC2_004521" "g.2160529G>A" "" "" "" "PKD1(NM_001009944.2):c.4639C>T (p.R1547C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854380" "0" "30" "16" "2160644" "2160644" "subst" "0.000273984" "02326" "PKD1_001128" "g.2160644G>A" "" "" "" "PKD1(NM_001009944.2):c.4524C>T (p.L1508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854381" "0" "30" "16" "2160683" "2160683" "subst" "3.71578E-5" "01943" "TSC2_004523" "g.2160683G>A" "" "" "" "PKD1(NM_001009944.2):c.4485C>T (p.P1495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854382" "0" "10" "16" "2161097" "2161097" "subst" "0.00600857" "02326" "PKD1_002396" "g.2161097C>A" "" "" "" "PKD1(NM_000296.3):c.4071G>T (p.(Leu1357=)), PKD1(NM_001009944.2):c.4071G>T (p.L1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854383" "0" "50" "16" "2161731" "2161733" "del" "0" "02327" "TSC2_004533" "g.2161731_2161733del" "" "" "" "PKD1(NM_001009944.2):c.3437_3439delTCT (p.F1146del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854384" "0" "50" "16" "2161731" "2161733" "del" "0" "02326" "TSC2_004533" "g.2161731_2161733del" "" "" "" "PKD1(NM_001009944.2):c.3437_3439delTCT (p.F1146del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854385" "0" "30" "16" "2161738" "2161738" "subst" "0.000439322" "02326" "PKD1_002458" "g.2161738C>T" "" "" "" "PKD1(NM_000296.3):c.3430G>A (p.(Val1144Ile)), PKD1(NM_001009944.2):c.3430G>A (p.V1144I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854386" "0" "30" "16" "2161739" "2161739" "subst" "0" "01943" "TSC2_004383" "g.2161739G>A" "" "" "" "PKD1(NM_001009944.2):c.3429C>T (p.P1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854387" "0" "30" "16" "2161799" "2161799" "subst" "0.000167361" "02326" "TSC2_004534" "g.2161799G>A" "" "" "" "PKD1(NM_001009944.2):c.3369C>T (p.R1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854388" "0" "30" "16" "2161865" "2161865" "subst" "0" "01943" "TSC2_004536" "g.2161865G>A" "" "" "" "PKD1(NM_001009944.2):c.3303C>T (p.Y1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854389" "0" "10" "16" "2162394" "2162394" "subst" "0.000902879" "02326" "TSC2_004537" "g.2162394G>A" "" "" "" "PKD1(NM_001009944.2):c.3242C>T (p.S1081L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854390" "0" "30" "16" "2164369" "2164369" "subst" "0.000920711" "01943" "PKD1_001095" "g.2164369G>A" "" "" "" "PKD1(NM_000296.3):c.2655C>T (p.(Cys885=)), PKD1(NM_001009944.2):c.2655C>T (p.C885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854391" "0" "30" "16" "2164509" "2164509" "subst" "0.000671123" "02326" "PKD1_002573" "g.2164509G>A" "" "" "" "PKD1(NM_001009944.2):c.2515C>T (p.P839S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854392" "0" "30" "16" "2164789" "2164789" "subst" "0.00115064" "02326" "PKD1_001096" "g.2164789G>C" "" "" "" "PKD1(NM_000296.3):c.2235C>G (p.(Ala745=)), PKD1(NM_001009944.2):c.2235C>G (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854393" "0" "30" "16" "2165391" "2165391" "subst" "4.30713E-5" "02326" "TSC2_004544" "g.2165391G>A" "" "" "" "PKD1(NM_001009944.2):c.2085C>T (p.P695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854394" "0" "30" "16" "2166907" "2166907" "subst" "0.000729436" "01943" "PKD1_002695" "g.2166907G>A" "" "" "" "PKD1(NM_001009944.2):c.1533C>T (p.L511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854395" "0" "10" "16" "2167673" "2167673" "subst" "0.000421215" "02326" "PKD1_000857" "g.2167673G>A" "" "" "" "PKD1(NM_001009944.2):c.1202C>T (p.A401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854396" "0" "10" "16" "2168390" "2168390" "subst" "0.00115561" "02326" "PKD1_000860" "g.2168390G>A" "" "" "" "PKD1(NM_000296.3):c.603C>T (p.(His201=)), PKD1(NM_001009944.2):c.603C>T (p.H201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854397" "0" "30" "16" "2168405" "2168405" "subst" "0.00249849" "02326" "PKD1_002775" "g.2168405G>A" "" "" "" "PKD1(NM_000296.3):c.588C>T (p.(Ser196=)), PKD1(NM_001009944.2):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854398" "0" "90" "16" "2169128" "2169132" "del" "0" "02327" "PKD1_000312" "g.2169128_2169132del" "" "" "" "PKD1(NM_001009944.2):c.348_352del (p.(Asn116Lysfs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864358" "0" "50" "16" "2096337" "2096337" "subst" "1.22366E-5" "01804" "NTHL1_000261" "g.2096337C>T" "" "" "" "NTHL1(NM_002528.5):c.170G>A (p.(Arg57His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864359" "0" "30" "16" "2103372" "2103372" "subst" "0.0011761" "01804" "TSC2_000074" "g.2103372C>T" "" "" "" "TSC2(NM_000548.3):c.255C>T (p.(Val85=)), TSC2(NM_000548.5):c.255C>T (p.V85=), TSC2(NM_001114382.2):c.255C>T (p.V85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864360" "0" "50" "16" "2104363" "2104363" "subst" "4.06065E-6" "02325" "TSC2_001958" "g.2104363G>A" "" "" "" "TSC2(NM_000548.5):c.403G>A (p.D135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000864361" "0" "30" "16" "2105537" "2105537" "subst" "0.000113706" "02326" "TSC2_001978" "g.2105537G>C" "" "" "" "TSC2(NM_000548.3):c.599+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864362" "0" "30" "16" "2106179" "2106179" "subst" "4.10314E-6" "01804" "TSC2_001981" "g.2106179G>C" "" "" "" "TSC2(NM_000548.3):c.600-18G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864363" "0" "30" "16" "2106230" "2106230" "subst" "4.10115E-6" "02326" "TSC2_001982" "g.2106230C>T" "" "" "" "TSC2(NM_000548.3):c.633C>T (p.S211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864364" "0" "50" "16" "2106696" "2106696" "subst" "0" "02327" "TSC2_001310" "g.2106696G>C" "" "" "" "TSC2(NM_000548.3):c.700G>C (p.E234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864365" "0" "30" "16" "2112558" "2112558" "subst" "0.000718652" "01804" "TSC2_000167" "g.2112558G>A" "" "" "" "TSC2(NM_000548.3):c.1318G>A (p.G440S, p.(Gly440Ser)), TSC2(NM_000548.5):c.1318G>A (p.G440S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864366" "0" "50" "16" "2112996" "2112996" "subst" "0" "01943" "TSC2_000398" "g.2112996G>A" "" "" "" "TSC2(NM_001114382.2):c.1385G>A (p.R462H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864367" "0" "30" "16" "2112998" "2112998" "subst" "0.000477234" "02329" "TSC2_000169" "g.2112998A>G" "" "" "" "TSC2(NM_000548.5):c.1387A>G (p.I463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864368" "0" "30" "16" "2113009" "2113009" "subst" "5.37194E-5" "01943" "TSC2_001989" "g.2113009G>A" "" "" "" "TSC2(NM_001114382.2):c.1398G>A (p.L466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864369" "0" "30" "16" "2113068" "2113068" "subst" "0" "01804" "TSC2_001990" "g.2113068C>A" "" "" "" "TSC2(NM_000548.3):c.1443+14C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864371" "0" "30" "16" "2120487" "2120487" "subst" "0.00196373" "01804" "TSC2_000178" "g.2120487G>A" "" "" "" "TSC2(NM_000548.3):c.1747G>A (p.A583T, p.(Ala583Thr)), TSC2(NM_000548.5):c.1747G>A (p.A583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864372" "0" "30" "16" "2121811" "2121811" "subst" "0.000283472" "02325" "TSC2_002020" "g.2121811A>C" "" "" "" "TSC2(NM_000548.5):c.1973A>C (p.K658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864373" "0" "30" "16" "2121869" "2121869" "subst" "0.00250745" "01804" "TSC2_000191" "g.2121869C>T" "" "" "" "TSC2(NM_000548.3):c.2031C>T (p.P677=, p.(Pro677=)), TSC2(NM_000548.5):c.2031C>T (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864374" "0" "50" "16" "2124337" "2124337" "subst" "4.07471E-6" "01943" "TSC2_001439" "g.2124337C>T" "" "" "" "TSC2(NM_001114382.2):c.2492C>T (p.T831M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000864376" "0" "30" "16" "2133701" "2133701" "subst" "0.00281981" "01804" "TSC2_000542" "g.2133701G>A" "" "" "" "TSC2(NM_000548.3):c.3889G>A (p.(Ala1297Thr)), TSC2(NM_000548.5):c.3889G>A (p.A1297T), TSC2(NM_001370404.1):c.3757G>A (p.A1253T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864377" "0" "10" "16" "2133798" "2133798" "subst" "0.00532816" "01804" "TSC2_000092" "g.2133798G>A" "" "" "" "TSC2(NM_000548.3):c.3986G>A (p.R1329H, p.(Arg1329His)), TSC2(NM_000548.5):c.3986G>A (p.R1329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864378" "0" "30" "16" "2134492" "2134492" "subst" "0.00269103" "01804" "TSC2_000570" "g.2134492G>A" "" "" "" "TSC2(NM_000548.3):c.4269G>A (p.L1423=, p.(Leu1423=)), TSC2(NM_000548.5):c.4269G>A (p.L1423=), TSC2(NM_001370404.1):c.4137G>A (p.L1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864379" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "01804" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864380" "0" "30" "16" "2134994" "2134994" "subst" "0.00313367" "02326" "TSC2_000018" "g.2134994C>T" "" "" "" "TSC2(NM_000548.3):c.4536C>T (p.D1512=, p.(Asp1512=)), TSC2(NM_000548.5):c.4536C>T (p.D1512=), TSC2(NM_001114382.2):c.4467C>T (p.D1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864381" "0" "30" "16" "2136746" "2136746" "subst" "8.16593E-6" "01943" "TSC2_004811" "g.2136746C>T" "" "" "" "TSC2(NM_001114382.2):c.4794C>T (p.I1598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000864382" "0" "10" "16" "2136842" "2136842" "subst" "0.00963142" "01804" "TSC2_000031" "g.2136842C>T" "" "" "" "TSC2(NM_000548.3):c.4959C>T (p.S1653=, p.(Ser1653=)), TSC2(NM_000548.5):c.4959C>T (p.S1653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864383" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "01804" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864384" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "02326" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864385" "0" "10" "16" "2139814" "2139814" "subst" "0.00377645" "01804" "PKD1_000046" "g.2139814G>A" "" "" "" "PKD1(NM_000296.3):c.12823C>T (p.(Arg4275Trp)), PKD1(NM_001009944.2):c.12826C>T (p.R4276W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864386" "0" "30" "16" "2139875" "2139875" "subst" "0.00376909" "01804" "PKD1_001199" "g.2139875G>A" "" "" "" "PKD1(NM_000296.3):c.12762C>T (p.(Pro4254=)), PKD1(NM_001009944.2):c.12765C>T (p.P4255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864387" "0" "90" "16" "2139909" "2139919" "dup" "0" "01804" "NTHL1_000276" "g.2139909_2139919dup" "" "" "" "PKD1(NM_001009944.2):c.12725_12735dup (p.(Leu4246SerfsTer116))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864388" "0" "90" "16" "2139928" "2139928" "subst" "0" "01804" "PKD1_001202" "g.2139928G>A" "" "" "" "PKD1(NM_001009944.2):c.12712C>T (p.(Gln4238Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864389" "0" "90" "16" "2139958" "2139958" "subst" "0" "01804" "PKD1_000004" "g.2139958G>A" "" "" "" "PKD1(NM_001009944.2):c.12682C>T (p.(Arg4228*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864390" "0" "30" "16" "2139976" "2139976" "subst" "0.00229081" "01804" "PKD1_002856" "g.2139976G>A" "" "" "" "PKD1(NM_000296.3):c.12661C>T (p.(Leu4221=)), PKD1(NM_001009944.2):c.12664C>T (p.L4222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864391" "0" "90" "16" "2140028" "2140028" "dup" "0" "01804" "NTHL1_000278" "g.2140028dup" "" "" "" "PKD1(NM_001009944.2):c.12615dup (p.(Thr4206Aspfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864392" "0" "90" "16" "2140153" "2140154" "del" "0" "01804" "NTHL1_000279" "g.2140153_2140154del" "" "" "" "PKD1(NM_001009944.2):c.12489_12490del (p.(Arg4164Leufs*45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864393" "0" "70" "16" "2140192" "2140192" "subst" "0" "01804" "PKD1_000272" "g.2140192G>A" "" "" "" "PKD1(NM_001009944.2):c.12448C>T (p.(Arg4150Cys), p.R4150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864394" "0" "90" "16" "2140192" "2140193" "ins" "0" "01804" "NTHL1_000280" "g.2140192_2140193insTTCG" "" "" "" "PKD1(NM_001009944.2):c.12449_12450insAACG (p.(His4151Thrfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864395" "0" "30" "16" "2140486" "2140486" "subst" "5.844E-5" "01804" "NTHL1_000281" "g.2140486G>A" "" "" "" "PKD1(NM_000296.3):c.12241C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864396" "0" "90" "16" "2140900" "2140903" "del" "0" "01804" "NTHL1_000283" "g.2140900_2140903del" "" "" "" "PKD1(NM_001009944.2):c.11987_11990del (p.(Phe3996CysfsTer42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864397" "0" "30" "16" "2140912" "2140912" "subst" "0.00297528" "01804" "PKD1_000810" "g.2140912G>C" "" "" "" "PKD1(NM_000296.3):c.11973C>G (p.(Ala3991=)), PKD1(NM_001009944.2):c.11976C>G (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864398" "0" "50" "16" "2140946" "2140946" "subst" "0" "02326" "NTHL1_000285" "g.2140946G>A" "" "" "" "PKD1(NM_001009944.2):c.11942C>T (p.A3981V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864399" "0" "50" "16" "2141013" "2141013" "subst" "0" "01804" "NTHL1_000286" "g.2141013C>T" "" "" "" "PKD1(NM_001009944.2):c.11875G>A (p.(Ala3959Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864400" "0" "70" "16" "2141054" "2141062" "dup" "0" "01804" "NTHL1_000287" "g.2141054_2141062dup" "" "" "" "PKD1(NM_001009944.2):c.11830_11838dup (p.(Leu3944_Ala3946dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864401" "0" "30" "16" "2141104" "2141104" "subst" "0.000133766" "01943" "NTHL1_000288" "g.2141104C>A" "" "" "" "PKD1(NM_001009944.2):c.11784G>T (p.W3928C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864402" "0" "30" "16" "2141105" "2141105" "subst" "0.000134128" "01943" "NTHL1_000289" "g.2141105C>A" "" "" "" "PKD1(NM_001009944.2):c.11783G>T (p.W3928L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864403" "0" "30" "16" "2141137" "2141137" "subst" "0" "01804" "NTHL1_000291" "g.2141137G>A" "" "" "" "PKD1(NM_000296.3):c.11748C>T (p.(Ala3916=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864404" "0" "90" "16" "2141170" "2141170" "subst" "0" "01804" "NTHL1_000292" "g.2141170G>T" "" "" "" "PKD1(NM_001009944.2):c.11718C>A (p.(Cys3906Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864405" "0" "50" "16" "2141171" "2141171" "subst" "0" "01804" "NTHL1_000293" "g.2141171C>T" "" "" "" "PKD1(NM_001009944.2):c.11717G>A (p.(Cys3906Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864406" "0" "30" "16" "2141395" "2141395" "subst" "0.037037" "01804" "PKD1_001354" "g.2141395G>A" "" "" "" "PKD1(NM_000296.3):c.11709+29C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864407" "0" "30" "16" "2141484" "2141484" "subst" "0.000643766" "01804" "PKD1_001365" "g.2141484G>A" "" "" "" "PKD1(NM_000296.3):c.11649C>T (p.(Ser3883=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864408" "0" "70" "16" "2141497" "2141497" "subst" "0" "01804" "NTHL1_000295" "g.2141497A>G" "" "" "" "PKD1(NM_001009944.2):c.11639T>C (p.(Leu3880Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864409" "0" "30" "16" "2141509" "2141509" "subst" "0" "01804" "PKD1_001369" "g.2141509G>A" "" "" "" "PKD1(NM_000296.3):c.11624C>T (p.(Ala3875Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864410" "0" "30" "16" "2141559" "2141559" "subst" "0.0018804" "01804" "NTHL1_000296" "g.2141559C>A" "" "" "" "PKD1(NM_000296.3):c.11574G>T (p.(Pro3858=)), PKD1(NM_001009944.2):c.11577G>T (p.P3859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864411" "0" "10" "16" "2141559" "2141559" "subst" "0.0018804" "02326" "NTHL1_000296" "g.2141559C>A" "" "" "" "PKD1(NM_000296.3):c.11574G>T (p.(Pro3858=)), PKD1(NM_001009944.2):c.11577G>T (p.P3859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864412" "0" "90" "16" "2141782" "2141782" "del" "0" "01804" "NTHL1_000297" "g.2141782del" "" "" "" "PKD1(NM_001009944.2):c.11537+1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864413" "0" "90" "16" "2141785" "2141788" "del" "0" "01804" "NTHL1_000298" "g.2141785_2141788del" "" "" "" "PKD1(NM_001009944.2):c.11531_11534del (p.(Asp3844Alafs*100))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864414" "0" "90" "16" "2141807" "2141807" "subst" "0" "01804" "PKD1_000005" "g.2141807G>A" "" "" "" "PKD1(NM_001009944.2):c.11512C>T (p.(Gln3838Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864415" "0" "30" "16" "2141846" "2141846" "subst" "9.8912E-5" "01804" "PKD1_001393" "g.2141846G>A" "" "" "" "PKD1(NM_000296.3):c.11470C>T (p.(Leu3824=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864416" "0" "90" "16" "2141870" "2141870" "del" "0" "02326" "NTHL1_000300" "g.2141870del" "" "" "" "PKD1(NM_001009944.2):c.11453delG (p.G3818Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864417" "0" "90" "16" "2141870" "2141870" "dup" "0" "02326" "PKD1_001396" "g.2141870dup" "" "" "" "PKD1(NM_000296.3):c.11450dup (p.(Tyr3818LeufsTer142)), PKD1(NM_001009944.2):c.11453dupG (p.Y3819Lfs*142)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864418" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "01943" "PKD1_002853" "g.2142103C>G" "" "" "" "PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864419" "0" "50" "16" "2142105" "2142105" "subst" "0" "01804" "PKD1_000585" "g.2142105C>A" "" "" "" "PKD1(NM_001009944.2):c.11354G>T (p.(Trp3785Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864420" "0" "90" "16" "2142116" "2142116" "subst" "0" "01804" "PKD1_000587" "g.2142116G>T" "" "" "" "PKD1(NM_000296.3):c.11340C>A (p.(Tyr3780*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864421" "0" "30" "16" "2142143" "2142143" "subst" "0.00148696" "01804" "NTHL1_000301" "g.2142143G>C" "" "" "" "PKD1(NM_000296.3):c.11313C>G (p.(Ala3771=)), PKD1(NM_001009944.2):c.11316C>G (p.A3772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864422" "0" "10" "16" "2142143" "2142143" "subst" "0.00148696" "02326" "NTHL1_000301" "g.2142143G>C" "" "" "" "PKD1(NM_000296.3):c.11313C>G (p.(Ala3771=)), PKD1(NM_001009944.2):c.11316C>G (p.A3772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864423" "0" "50" "16" "2142481" "2142481" "subst" "0" "01804" "NTHL1_000302" "g.2142481C>G" "" "" "" "PKD1(NM_001009944.2):c.11269G>C (p.(Ala3757Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864424" "0" "90" "16" "2142487" "2142487" "subst" "0" "01804" "NTHL1_000303" "g.2142487G>A" "" "" "" "PKD1(NM_001009944.2):c.11263C>T (p.(Gln3755Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864425" "0" "10" "16" "2142942" "2142942" "subst" "0.0107386" "01804" "PKD1_001455" "g.2142942C>T" "" "" "" "PKD1(NM_000296.3):c.11153+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864426" "0" "70" "16" "2142954" "2142954" "subst" "0" "01804" "PKD1_001458" "g.2142954C>A" "" "" "" "PKD1(NM_001009944.2):c.11156+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864427" "0" "90" "16" "2143045" "2143045" "dup" "0" "01804" "NTHL1_000304" "g.2143045dup" "" "" "" "PKD1(NM_001009944.2):c.11066dup (p.(Tyr3689*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864428" "0" "30" "16" "2143531" "2143531" "subst" "0" "01804" "NTHL1_000305" "g.2143531G>A" "" "" "" "PKD1(NM_000296.3):c.11013+14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864429" "0" "30" "16" "2143546" "2143546" "subst" "0.000429801" "01804" "PKD1_000594" "g.2143546C>T" "" "" "" "LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864430" "0" "50" "16" "2143622" "2143622" "subst" "0.000207657" "01943" "PKD1_002875" "g.2143622G>A" "" "" "" "PKD1(NM_000296.3):c.10936C>T (p.(Arg3646Trp)), PKD1(NM_001009944.2):c.10939C>T (p.R3647W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864431" "0" "50" "16" "2143641" "2143641" "subst" "0.000194691" "01804" "NTHL1_000306" "g.2143641G>A" "" "" "" "PKD1(NM_000296.3):c.10917C>T (p.(Ser3639=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864432" "0" "70" "16" "2143810" "2143814" "del" "0" "01804" "TSC2_004450" "g.2143810_2143814del" "" "" "" "PKD1(NM_001009944.2):c.10819_10821+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864433" "0" "70" "16" "2143861" "2143861" "subst" "0" "01804" "TSC2_004451" "g.2143861G>T" "" "" "" "PKD1(NM_001009944.2):c.10772C>A (p.(Ser3591Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864434" "0" "50" "16" "2143939" "2143939" "subst" "0" "01804" "TSC2_004452" "g.2143939A>G" "" "" "" "PKD1(NM_001009944.2):c.10694T>C (p.(Leu3565Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864435" "0" "30" "16" "2143979" "2143979" "subst" "0.000426292" "02326" "PKD1_000598" "g.2143979C>A" "" "" "" "PKD1(NM_000296.3):c.10651G>T (p.(Ala3551Ser)), PKD1(NM_001009944.2):c.10654G>T (p.A3552S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864436" "0" "30" "16" "2143990" "2143990" "subst" "0.000279018" "01804" "TSC2_004453" "g.2143990C>T" "" "" "" "PKD1(NM_000296.3):c.10640G>A (p.(Arg3547His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864437" "0" "10" "16" "2144182" "2144182" "subst" "0.0210431" "01804" "PKD1_000160" "g.2144182G>A" "" "" "" "PKD1(NM_000296.3):c.10526C>T (p.(Thr3509Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864438" "0" "90" "16" "2144186" "2144187" "del" "0" "01804" "PKD1_001546" "g.2144186_2144187del" "" "" "" "PKD1(NM_001009944.2):c.10527_10528del (p.(Glu3509Aspfs*117))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864439" "0" "30" "16" "2147255" "2147255" "subst" "9.25772E-6" "01804" "TSC2_004454" "g.2147255G>A" "" "" "" "PKD1(NM_001009944.2):c.10406-13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864440" "0" "30" "16" "2147400" "2147400" "subst" "0.000357104" "01943" "PKD1_001582" "g.2147400G>A" "" "" "" "PKD1(NM_000296.3):c.10322C>T (p.(Ala3441Val)), PKD1(NM_001009944.2):c.10325C>T (p.A3442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864441" "0" "50" "16" "2147429" "2147429" "subst" "0" "01804" "TSC2_004455" "g.2147429G>C" "" "" "" "PKD1(NM_000296.3):c.10293C>G (p.(Ser3431Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864442" "0" "30" "16" "2147517" "2147517" "subst" "6.47299E-5" "01804" "TSC2_004456" "g.2147517C>T" "" "" "" "PKD1(NM_000296.3):c.10218-13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864443" "0" "30" "16" "2147518" "2147518" "subst" "0.000302415" "01804" "PKD1_001590" "g.2147518G>A" "" "" "" "PKD1(NM_000296.3):c.10218-14C>T (p.(=)), PKD1(NM_001009944.2):c.10221-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864444" "0" "90" "16" "2147964" "2147965" "del" "0" "01804" "TSC2_004458" "g.2147964_2147965del" "" "" "" "PKD1(NM_001009944.2):c.10074_10075del (p.(Pro3359Cysfs*30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864445" "0" "90" "16" "2149659" "2149663" "del" "0" "01804" "TSC2_004459" "g.2149659_2149663del" "" "" "" "PKD1(NM_001009944.2):c.10032_10036del (p.(Arg3345Valfs*43))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864446" "0" "30" "16" "2149735" "2149735" "subst" "1.4434E-5" "01804" "TSC2_004461" "g.2149735G>A" "" "" "" "PKD1(NM_000296.3):c.9960C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864447" "0" "30" "16" "2149782" "2149782" "subst" "0.00112733" "01804" "PKD1_001634" "g.2149782G>A" "" "" "" "PKD1(NM_000296.3):c.9924-11C>T (p.(=)), PKD1(NM_001009944.2):c.9924-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864448" "0" "30" "16" "2149990" "2149990" "subst" "0.0016124" "01804" "PKD1_001643" "g.2149990G>A" "" "" "" "PKD1(NM_000296.3):c.9795C>T (p.(Ser3265=)), PKD1(NM_001009944.2):c.9795C>T (p.S3265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864449" "0" "30" "16" "2150089" "2150089" "subst" "7.24874E-5" "01804" "PKD1_001654" "g.2150089G>C" "" "" "" "PKD1(NM_000296.3):c.9713-17C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864450" "0" "10" "16" "2150210" "2150210" "subst" "0.00571282" "01804" "PKD1_001663" "g.2150210C>T" "" "" "" "PKD1(NM_000296.3):c.9669G>A (p.(Thr3223=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864451" "0" "90" "16" "2150311" "2150311" "del" "0" "01804" "TSC2_004463" "g.2150311del" "" "" "" "PKD1(NM_001009944.2):c.9570del (p.(Leu3191SerfsTer125))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864452" "0" "70" "16" "2150406" "2150408" "del" "0" "01804" "PKD1_000620" "g.2150406_2150408del" "" "" "" "PKD1(NM_001009944.2):c.9559_9561del (p.(Asp3187del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864453" "0" "50" "16" "2150466" "2150466" "subst" "0.000991262" "01804" "PKD1_000190" "g.2150466T>A" "" "" "" "PKD1(NM_000296.3):c.9499A>T (p.(Ile3167Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864454" "0" "50" "16" "2150508" "2150508" "subst" "1.23062E-5" "01804" "TSC2_004465" "g.2150508G>T" "" "" "" "PKD1(NM_001009944.2):c.9457C>A (p.(His3153Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864455" "0" "70" "16" "2150569" "2150569" "subst" "0" "01804" "TSC2_004466" "g.2150569T>C" "" "" "" "PKD1(NM_000296.3):c.9398-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864456" "0" "30" "16" "2152050" "2152050" "subst" "7.13776E-5" "02326" "PKD1_001706" "g.2152050T>C" "" "" "" "PKD1(NM_001009944.2):c.9397+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864457" "0" "30" "16" "2152129" "2152129" "subst" "0" "01804" "TSC2_004467" "g.2152129A>C" "" "" "" "PKD1(NM_000296.3):c.9330T>G (p.(Pro3110=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864458" "0" "90" "16" "2152136" "2152136" "del" "0" "01804" "PKD1_000774" "g.2152136del" "" "" "" "PKD1(NM_001009944.2):c.9324del (p.(Ile3109Serfs*207))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864459" "0" "30" "16" "2152189" "2152189" "subst" "0.0100418" "01804" "PKD1_001718" "g.2152189G>A" "" "" "" "PKD1(NM_000296.3):c.9270C>T (p.(Val3090=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864460" "0" "30" "16" "2152418" "2152418" "subst" "0" "01943" "TSC2_004468" "g.2152418G>T" "" "" "" "PKD1(NM_001009944.2):c.9165C>A (p.L3055=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864461" "0" "90" "16" "2152545" "2152550" "del" "0" "01804" "PKD1_000716" "g.2152545_2152550del" "" "" "" "PKD1(NM_000296.3):c.9034_9039del (p.(Thr3012_Ser3013del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864462" "0" "30" "16" "2152619" "2152619" "subst" "0.00749875" "01804" "PKD1_001043" "g.2152619C>T" "" "" "" "PKD1(NM_000296.3):c.8964G>A (p.(Ala2988=)), PKD1(NM_001009944.2):c.8964G>A (p.A2988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864463" "0" "30" "16" "2152654" "2152654" "subst" "0.0079763" "01804" "PKD1_001771" "g.2152654C>T" "" "" "" "PKD1(NM_000296.3):c.8949-20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864464" "0" "30" "16" "2152798" "2152798" "subst" "0.00734956" "01804" "PKD1_001776" "g.2152798T>C" "" "" "" "PKD1(NM_000296.3):c.8948+17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864465" "0" "30" "16" "2152804" "2152804" "subst" "0.00505187" "01804" "PKD1_001778" "g.2152804G>A" "" "" "" "PKD1(NM_000296.3):c.8948+11C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864466" "0" "70" "16" "2152830" "2152832" "del" "0" "01804" "PKD1_000161" "g.2152830_2152832del" "" "" "" "PKD1(NM_001009944.2):c.8935_8937del (p.(Phe2979del)), PKD1(NM_001009944.2):c.8935_8937delTTC (p.F2979del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864467" "0" "10" "16" "2152850" "2152850" "subst" "0.0076062" "01804" "PKD1_000537" "g.2152850A>G" "" "" "" "PKD1(NM_000296.3):c.8913T>C (p.(Ala2971=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864468" "0" "90" "16" "2152917" "2152918" "dup" "0" "01804" "TSC2_004469" "g.2152917_2152918dup" "" "" "" "PKD1(NM_000296.3):c.8847_8848insAG (p.(Pro2950SerfsTer45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864469" "0" "30" "16" "2153345" "2153345" "subst" "0.00163641" "01804" "PKD1_001117" "g.2153345C>T" "" "" "" "PKD1(NM_000296.3):c.8713G>A (p.(Val2905Ile)), PKD1(NM_001009944.2):c.8713G>A (p.V2905I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864470" "0" "50" "16" "2153387" "2153387" "subst" "0.0002627" "01804" "PKD1_000823" "g.2153387C>T" "" "" "" "PKD1(NM_000296.3):c.8671G>A (p.(Ala2891Thr)), PKD1(NM_001009944.2):c.8671G>A (p.A2891T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864471" "0" "50" "16" "2153465" "2153465" "subst" "0.000211786" "01804" "PKD1_001842" "g.2153465G>A" "" "" "" "PKD1(NM_000296.3):c.8593C>T (p.(Arg2865Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864472" "0" "30" "16" "2153595" "2153595" "subst" "2.04737E-5" "01943" "TSC2_004470" "g.2153595G>A" "" "" "" "PKD1(NM_001009944.2):c.8463C>T (p.D2821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864473" "0" "10" "16" "2153619" "2153619" "subst" "0.0047702" "02326" "PKD1_001119" "g.2153619G>A" "" "" "" "PKD1(NM_000296.3):c.8439C>T (p.(Ser2813=)), PKD1(NM_001009944.2):c.8439C>T (p.S2813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864474" "0" "90" "16" "2153737" "2153738" "del" "0" "01804" "PKD1_001876" "g.2153737_2153738del" "" "" "" "PKD1(NM_001009944.2):c.8320_8321del (p.(Leu2774Aspfs*47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864475" "0" "90" "16" "2153747" "2153747" "subst" "0" "01804" "PKD1_000116" "g.2153747C>T" "" "" "" "PKD1(NM_000296.3):c.8311G>A (p.(Glu2771Lys)), PKD1(NM_001009944.2):c.8311G>A (p.E2771K), PKD1(NM_001009944.3):c.8311G>A (p.E2771K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864476" "0" "30" "16" "2153777" "2153777" "subst" "0.000233452" "01804" "TSC2_004472" "g.2153777G>A" "" "" "" "PKD1(NM_000296.3):c.8281C>T (p.(Arg2761Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864477" "0" "50" "16" "2153791" "2153791" "subst" "0.000176143" "01943" "TSC2_004473" "g.2153791G>A" "" "" "" "PKD1(NM_000296.3):c.8267C>T (p.(Thr2756Ile)), PKD1(NM_001009944.2):c.8267C>T (p.T2756I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864478" "0" "50" "16" "2153795" "2153795" "subst" "0" "01804" "TSC2_004474" "g.2153795G>C" "" "" "" "PKD1(NM_000296.3):c.8263C>G (p.(Leu2755Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864479" "0" "30" "16" "2153811" "2153811" "subst" "0.000777119" "01943" "PKD1_001889" "g.2153811C>T" "" "" "" "PKD1(NM_001009944.2):c.8247G>A (p.A2749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864480" "0" "30" "16" "2153854" "2153854" "subst" "0.000679855" "01943" "PKD1_000825" "g.2153854T>A" "" "" "" "PKD1(NM_001009944.2):c.8204A>T (p.Q2735L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864481" "0" "30" "16" "2153858" "2153858" "subst" "0.000683219" "01943" "PKD1_000826" "g.2153858G>T" "" "" "" "PKD1(NM_001009944.2):c.8200C>A (p.P2734T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864482" "0" "70" "16" "2153887" "2153908" "del" "0" "01804" "TSC2_004475" "g.2153887_2153908del" "" "" "" "PKD1(NM_001009944.2):c.8162-12_8171del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864483" "0" "30" "16" "2154492" "2154492" "subst" "0.000144286" "01804" "TSC2_004405" "g.2154492G>A" "" "" "" "PKD1(NM_000296.3):c.8161+7C>T (p.(=)), PKD1(NM_001009944.2):c.8161+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864484" "0" "90" "16" "2154534" "2154534" "subst" "0" "01804" "TSC2_004476" "g.2154534G>A" "" "" "" "PKD1(NM_001009944.2):c.8126C>T (p.(Pro2709Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864485" "0" "90" "16" "2154535" "2154535" "del" "0" "01804" "TSC2_004477" "g.2154535del" "" "" "" "PKD1(NM_001009944.2):c.8127del (p.(Thr2710Profs*46))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864486" "0" "30" "16" "2154542" "2154542" "subst" "0.000461963" "01804" "TSC2_004406" "g.2154542G>A" "" "" "" "PKD1(NM_000296.3):c.8118C>T (p.(Thr2706=)), PKD1(NM_001009944.2):c.8118C>T (p.T2706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864487" "0" "30" "16" "2154551" "2154551" "subst" "0.0013471" "01804" "PKD1_001914" "g.2154551G>A" "" "" "" "PKD1(NM_000296.3):c.8109C>T (p.(Thr2703=)), PKD1(NM_001009944.2):c.8109C>T (p.T2703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864488" "0" "50" "16" "2154619" "2154619" "subst" "0.000272609" "01804" "TSC2_004478" "g.2154619G>A" "" "" "" "PKD1(NM_000296.3):c.8041C>T (p.(Arg2681Cys)), PKD1(NM_001009944.2):c.8041C>T (p.R2681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864489" "0" "10" "16" "2154623" "2154623" "subst" "0.00212447" "02326" "PKD1_001922" "g.2154623T>C" "" "" "" "PKD1(NM_001009944.2):c.8037A>G (p.V2679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864490" "0" "30" "16" "2154640" "2154640" "subst" "0.00921845" "01804" "PKD1_000721" "g.2154640G>A" "" "" "" "PKD1(NM_000296.3):c.8020C>T (p.(Pro2674Ser)), PKD1(NM_001009944.2):c.8020C>T (p.P2674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864491" "0" "50" "16" "2155361" "2155361" "subst" "0" "01804" "TSC2_004479" "g.2155361C>G" "" "" "" "PKD1(NM_000296.3):c.7978G>C (p.(Asp2660His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864492" "0" "90" "16" "2155367" "2155368" "del" "0" "01804" "TSC2_004480" "g.2155367_2155368del" "" "" "" "PKD1(NM_001009944.2):c.7973_7974del (p.(Val2658GlyfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864493" "0" "90" "16" "2155367" "2155368" "del" "0" "02327" "TSC2_004480" "g.2155367_2155368del" "" "" "" "PKD1(NM_001009944.2):c.7973_7974del (p.(Val2658GlyfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864494" "0" "50" "16" "2155411" "2155411" "subst" "0" "01804" "TSC2_004481" "g.2155411C>G" "" "" "" "PKD1(NM_001009944.2):c.7928G>C (p.(Arg2643Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864495" "0" "70" "16" "2155412" "2155412" "subst" "4.39213E-6" "01804" "PKD1_000288" "g.2155412G>A" "" "" "" "PKD1(NM_001009944.2):c.7927C>T (p.(Arg2643Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864496" "0" "50" "16" "2155433" "2155433" "subst" "2.19734E-5" "01804" "TSC2_004482" "g.2155433G>A" "" "" "" "PKD1(NM_000296.3):c.7906C>T (p.(Arg2636Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864497" "0" "50" "16" "2155469" "2155469" "subst" "6.15141E-5" "01804" "TSC2_004483" "g.2155469G>A" "" "" "" "PKD1(NM_000296.3):c.7870C>T (p.(Arg2624Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864498" "0" "30" "16" "2155853" "2155853" "subst" "0.00231514" "02326" "TSC2_004484" "g.2155853A>G" "" "" "" "PKD1(NM_000296.3):c.7863+13T>C (p.(=)), PKD1(NM_001009944.2):c.7863+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864499" "0" "50" "16" "2156116" "2156116" "subst" "0" "01804" "TSC2_004486" "g.2156116C>A" "" "" "" "PKD1(NM_000296.3):c.7679G>T (p.(Gly2560Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864500" "0" "30" "16" "2156147" "2156147" "subst" "5.0552E-6" "01804" "TSC2_004487" "g.2156147C>T" "" "" "" "PKD1(NM_001009944.2):c.7648G>A (p.(Gly2550Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864501" "0" "70" "16" "2156170" "2156170" "subst" "0" "01804" "TSC2_004488" "g.2156170C>T" "" "" "" "PKD1(NM_001009944.2):c.7625G>A (p.(Gly2542Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864502" "0" "30" "16" "2156181" "2156181" "subst" "0" "01804" "TSC2_004489" "g.2156181C>T" "" "" "" "PKD1(NM_001009944.2):c.7614G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864503" "0" "90" "16" "2156218" "2156219" "del" "0" "01804" "PKD1_000608" "g.2156218_2156219del" "" "" "" "PKD1(NM_001009944.2):c.7579_7580del (p.(Val2527Leufs*67))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864504" "0" "30" "16" "2156229" "2156229" "subst" "0.00041915" "01804" "PKD1_002004" "g.2156229G>A" "" "" "" "PKD1(NM_000296.3):c.7566C>T (p.(Cys2522=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864505" "0" "70" "16" "2156249" "2156249" "subst" "0" "01804" "PKD1_000292" "g.2156249G>A" "" "" "" "PKD1(NM_001009944.2):c.7546C>T (p.(Arg2516Cys), p.R2516C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864506" "0" "50" "16" "2156497" "2156497" "subst" "1.83881E-5" "01804" "PKD1_002037" "g.2156497C>G" "" "" "" "PKD1(NM_001009944.2):c.7391G>C (p.(Arg2464Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864507" "0" "90" "16" "2156600" "2156600" "subst" "0" "01804" "PKD1_000096" "g.2156600G>A" "" "" "" "PKD1(NM_000296.3):c.7288C>T (p.(Arg2430*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864508" "0" "30" "16" "2156610" "2156610" "subst" "3.88484E-5" "02326" "PKD1_002052" "g.2156610A>G" "" "" "" "PKD1(NM_001009944.2):c.7278T>C (p.S2426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864509" "0" "10" "16" "2156788" "2156788" "subst" "0" "01804" "TSC2_004490" "g.2156788A>C" "" "" "" "PKD1(NM_000296.3):c.7209+18T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864510" "0" "30" "16" "2156793" "2156793" "subst" "0" "01804" "TSC2_004491" "g.2156793G>C" "" "" "" "PKD1(NM_000296.3):c.7209+13C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864511" "0" "30" "16" "2156795" "2156795" "subst" "0" "01804" "TSC2_004492" "g.2156795T>C" "" "" "" "PKD1(NM_000296.3):c.7209+11A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864512" "0" "90" "16" "2156895" "2156895" "subst" "0" "01943" "TSC2_004413" "g.2156895T>A" "" "" "" "PKD1(NM_001009944.2):c.7120A>T (p.K2374*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864513" "0" "30" "16" "2157873" "2157873" "subst" "1.45005E-5" "01804" "TSC2_004493" "g.2157873G>A" "" "" "" "PKD1(NM_000296.3):c.7065+11C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864514" "0" "50" "16" "2157915" "2157915" "subst" "4.25755E-5" "01804" "TSC2_004494" "g.2157915G>A" "" "" "" "PKD1(NM_000296.3):c.7034C>T (p.(Ala2345Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864515" "0" "30" "16" "2157931" "2157931" "subst" "0" "01943" "TSC2_004495" "g.2157931G>A" "" "" "" "PKD1(NM_001009944.2):c.7018C>T (p.L2340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864516" "0" "90" "16" "2157941" "2157941" "subst" "0" "01804" "PKD1_000076" "g.2157941G>T" "" "" "" "PKD1(NM_001009944.2):c.7008C>A (p.(Tyr2336*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864517" "0" "90" "16" "2157959" "2157965" "dup" "0" "01804" "PKD1_000124" "g.2157959_2157965dup" "" "" "" "PKD1(NM_001009944.2):c.7000_7001insGCTGGCG (p.(Val2334Glyfs*88)), PKD1(NM_001009944.3):c.6994_7000dupGCTGGCG (p.V2334Gfs*88)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864518" "0" "30" "16" "2157963" "2157963" "subst" "4.15478E-5" "01804" "PKD1_000729" "g.2157963C>T" "" "" "" "PKD1(NM_000296.3):c.6986G>A (p.(Arg2329Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864519" "0" "30" "16" "2158022" "2158022" "subst" "0.0130544" "01804" "PKD1_002109" "g.2158022G>A" "" "" "" "PKD1(NM_000296.3):c.6927C>T (p.(Gly2309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864520" "0" "30" "16" "2158239" "2158239" "subst" "0.000896335" "01804" "PKD1_002114" "g.2158239T>C" "" "" "" "PKD1(NM_000296.3):c.6915+14A>G (p.(=)), PKD1(NM_001009944.2):c.6915+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864521" "0" "90" "16" "2158309" "2158309" "subst" "0" "01804" "TSC2_004496" "g.2158309C>A" "" "" "" "PKD1(NM_001009944.2):c.6859G>T (p.(Glu2287*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864522" "0" "70" "16" "2158388" "2158390" "del" "0" "01804" "PKD1_000196" "g.2158388_2158390del" "" "" "" "PKD1(NM_001009944.2):c.6778_6780del (p.(Ile2260del)), PKD1(NM_001009944.2):c.6778_6780delATT (p.I2260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864523" "0" "30" "16" "2158489" "2158489" "subst" "4.17564E-6" "01943" "TSC2_004497" "g.2158489G>A" "" "" "" "PKD1(NM_001009944.2):c.6679C>T (p.H2227Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864524" "0" "30" "16" "2158503" "2158503" "subst" "0.000662326" "01943" "PKD1_000833" "g.2158503G>A" "" "" "" "PKD1(NM_001009944.2):c.6665C>T (p.A2222V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864525" "0" "70" "16" "2158531" "2158531" "subst" "8.46246E-6" "01804" "TSC2_004498" "g.2158531G>A" "" "" "" "PKD1(NM_000296.3):c.6637C>T (p.(Arg2213Trp)), PKD1(NM_001009944.2):c.6637C>T (p.R2213W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864526" "0" "30" "16" "2158547" "2158547" "subst" "0.000192007" "01804" "PKD1_002155" "g.2158547G>C" "" "" "" "PKD1(NM_000296.3):c.6621C>G (p.(Pro2207=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864527" "0" "30" "16" "2158575" "2158575" "subst" "0.00109014" "01943" "PKD1_002158" "g.2158575G>A" "" "" "" "PKD1(NM_001009944.2):c.6593C>T (p.P2198L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864528" "0" "90" "16" "2158585" "2158591" "del" "0" "01804" "PKD1_002159" "g.2158585_2158591del" "" "" "" "PKD1(NM_000296.3):c.6583_6589del (p.(Cys2195Glyfs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864529" "0" "50" "16" "2158612" "2158612" "subst" "2.46081E-5" "01804" "TSC2_004499" "g.2158612G>A" "" "" "" "PKD1(NM_001009944.2):c.6556C>T (p.(Arg2186Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864530" "0" "70" "16" "2158618" "2158619" "del" "0" "01804" "TSC2_004500" "g.2158618_2158619del" "" "" "" "PKD1(NM_001009944.2):c.6549_6550del (p.(Glu2184Valfs*77))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864531" "0" "30" "16" "2158672" "2158672" "subst" "0.00320602" "02326" "PKD1_000297" "g.2158672G>A" "" "" "" "PKD1(NM_000296.3):c.6496C>T (p.(Arg2166Cys)), PKD1(NM_001009944.2):c.6496C>T (p.R2166C), PKD1(NM_001009944.3):c.6496C>T (p.R2166C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864532" "0" "50" "16" "2158672" "2158672" "subst" "0.00320602" "01804" "PKD1_000297" "g.2158672G>A" "" "" "" "PKD1(NM_000296.3):c.6496C>T (p.(Arg2166Cys)), PKD1(NM_001009944.2):c.6496C>T (p.R2166C), PKD1(NM_001009944.3):c.6496C>T (p.R2166C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864533" "0" "90" "16" "2158681" "2158681" "subst" "0" "01804" "PKD1_000129" "g.2158681G>A" "" "" "" "PKD1(NM_001009944.2):c.6487C>T (p.(Arg2163*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864534" "0" "50" "16" "2158734" "2158734" "subst" "0" "01804" "TSC2_004349" "g.2158734G>A" "" "" "" "PKD1(NM_000296.3):c.6434C>T (p.(Ala2145Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864535" "0" "70" "16" "2158773" "2158775" "del" "0" "02327" "PKD1_000636" "g.2158773_2158775del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864536" "0" "70" "16" "2158785" "2158785" "subst" "0" "01804" "TSC2_004502" "g.2158785T>C" "" "" "" "PKD1(NM_001009944.2):c.6383A>G (p.(Asn2128Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864537" "0" "30" "16" "2158871" "2158871" "subst" "0.00187878" "01804" "PKD1_001070" "g.2158871C>A" "" "" "" "PKD1(NM_000296.3):c.6297G>T (p.(Gly2099=)), PKD1(NM_001009944.2):c.6297G>T (p.G2099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864538" "0" "30" "16" "2158909" "2158909" "subst" "1.5315E-5" "01943" "TSC2_004503" "g.2158909G>A" "" "" "" "PKD1(NM_001009944.2):c.6259C>T (p.P2087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864539" "0" "50" "16" "2158945" "2158945" "subst" "3.91321E-5" "01943" "TSC2_004504" "g.2158945G>A" "" "" "" "PKD1(NM_001009944.2):c.6223C>T (p.R2075C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864540" "0" "50" "16" "2159004" "2159004" "subst" "0" "01804" "PKD1_000888" "g.2159004A>G" "" "" "" "PKD1(NM_001009944.2):c.6164T>C (p.(Leu2055Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864541" "0" "50" "16" "2159017" "2159017" "subst" "0.00021938" "01804" "PKD1_000641" "g.2159017G>A" "" "" "" "PKD1(NM_000296.3):c.6151C>T (p.(Arg2051Cys)), PKD1(NM_001009944.2):c.6151C>T (p.R2051C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864542" "0" "30" "16" "2159097" "2159097" "subst" "1.66824E-5" "01943" "TSC2_004506" "g.2159097C>T" "" "" "" "PKD1(NM_001009944.2):c.6071G>A (p.R2024H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864543" "0" "50" "16" "2159145" "2159147" "del" "0" "01804" "TSC2_004507" "g.2159145_2159147del" "" "" "" "PKD1(NM_000296.3):c.6023_6025del (p.(Phe2008del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864544" "0" "30" "16" "2159161" "2159161" "subst" "0.000206545" "01804" "PKD1_002216" "g.2159161C>T" "" "" "" "PKD1(NM_000296.3):c.6007G>A (p.(Ala2003Thr)), PKD1(NM_001009944.2):c.6007G>A (p.A2003T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864545" "0" "30" "16" "2159183" "2159183" "subst" "4.22951E-5" "01804" "TSC2_004508" "g.2159183G>A" "" "" "" "PKD1(NM_000296.3):c.5985C>T (p.(Arg1995=)), PKD1(NM_001009944.2):c.5985C>T (p.R1995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864546" "0" "30" "16" "2159189" "2159189" "subst" "0.00028342" "01804" "PKD1_000644" "g.2159189T>C" "" "" "" "PKD1(NM_000296.3):c.5979A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864547" "0" "30" "16" "2159205" "2159205" "subst" "3.82237E-5" "01943" "TSC2_004509" "g.2159205G>A" "" "" "" "PKD1(NM_001009944.2):c.5963C>T (p.T1988I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864548" "0" "30" "16" "2159240" "2159240" "subst" "0" "01804" "TSC2_004510" "g.2159240C>G" "" "" "" "PKD1(NM_001009944.2):c.5928G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864549" "0" "90" "16" "2159284" "2159284" "subst" "0" "01804" "PKD1_000791" "g.2159284G>A" "" "" "" "PKD1(NM_001009944.2):c.5884C>T (p.(Gln1962Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864550" "0" "90" "16" "2159311" "2159311" "dup" "0" "01804" "PKD1_002231" "g.2159311dup" "" "" "" "PKD1(NM_001009944.2):c.5861dup (p.(Asn1954Lysfs*36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864551" "0" "50" "16" "2159327" "2159329" "del" "0" "01804" "TSC2_004511" "g.2159327_2159329del" "" "" "" "PKD1(NM_001009944.2):c.5842_5844del (p.(Val1948del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864552" "0" "50" "16" "2159338" "2159338" "subst" "0.00018048" "01804" "PKD1_001074" "g.2159338C>T" "" "" "" "PKD1(NM_000296.3):c.5830G>A (p.(Gly1944Arg)), PKD1(NM_001009944.2):c.5830G>A (p.G1944R), PKD1(NM_001009944.3):c.5830G>A (p.G1944R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864553" "0" "30" "16" "2159396" "2159396" "subst" "0.000894314" "01943" "PKD1_002240" "g.2159396G>A" "" "" "" "PKD1(NM_001009944.2):c.5772C>T (p.G1924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864554" "0" "10" "16" "2159405" "2159405" "subst" "0.0310929" "01804" "PKD1_000732" "g.2159405C>T" "" "" "" "PKD1(NM_000296.3):c.5763G>A (p.(Leu1921=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864555" "0" "50" "16" "2159410" "2159410" "subst" "7.36109E-5" "01804" "PKD1_001123" "g.2159410G>A" "" "" "" "PKD1(NM_000296.3):c.5758C>T (p.(Arg1920Cys)), PKD1(NM_001009944.2):c.5758C>T (p.R1920C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864556" "0" "30" "16" "2159486" "2159486" "subst" "0.00440096" "01804" "PKD1_000837" "g.2159486G>A" "" "" "" "PKD1(NM_000296.3):c.5682C>T (p.(Ala1894=)), PKD1(NM_001009944.2):c.5682C>T (p.A1894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864557" "0" "90" "16" "2159546" "2159546" "subst" "0" "01804" "PKD1_000036" "g.2159546C>T" "" "" "" "PKD1(NM_000296.3):c.5622G>A (p.(Trp1874*)), PKD1(NM_001009944.2):c.5622G>A (p.W1874*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864558" "0" "50" "16" "2159600" "2159600" "subst" "0" "01804" "TSC2_004416" "g.2159600G>C" "" "" "" "PKD1(NM_000296.3):c.5568C>G (p.(Phe1856Leu)), PKD1(NM_001009944.2):c.5568C>G (p.F1856L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864559" "0" "30" "16" "2159636" "2159636" "subst" "0" "01804" "TSC2_004513" "g.2159636G>A" "" "" "" "PKD1(NM_001009944.2):c.5532C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864560" "0" "10" "16" "2159714" "2159714" "subst" "0.00958397" "01804" "PKD1_002271" "g.2159714C>T" "" "" "" "PKD1(NM_000296.3):c.5454G>A (p.(Ala1818=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864561" "0" "50" "16" "2159923" "2159923" "subst" "2.47555E-5" "01804" "TSC2_004514" "g.2159923C>T" "" "" "" "PKD1(NM_000296.3):c.5245G>A (p.(Val1749Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864562" "0" "50" "16" "2159988" "2159988" "subst" "3.78059E-5" "01804" "PKD1_002295" "g.2159988G>A" "" "" "" "PKD1(NM_000296.3):c.5180C>T (p.(Pro1727Leu)), PKD1(NM_001009944.2):c.5180C>T (p.P1727L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864563" "0" "30" "16" "2160053" "2160053" "subst" "4.56568E-5" "02326" "TSC2_004515" "g.2160053G>A" "" "" "" "PKD1(NM_001009944.2):c.5115C>T (p.S1705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864564" "0" "70" "16" "2160060" "2160060" "subst" "0" "02326" "TSC2_004516" "g.2160060A>G" "" "" "" "PKD1(NM_001009944.2):c.5108T>C (p.L1703P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864565" "0" "30" "16" "2160098" "2160098" "subst" "0.000129277" "01804" "PKD1_001126" "g.2160098G>A" "" "" "" "PKD1(NM_000296.3):c.5070C>T (p.(Ala1690=)), PKD1(NM_001009944.2):c.5070C>T (p.A1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864566" "0" "10" "16" "2160117" "2160117" "subst" "0.00255207" "02326" "PKD1_002308" "g.2160117G>A" "" "" "" "PKD1(NM_000296.3):c.5051C>T (p.(Ser1684Leu)), PKD1(NM_001009944.2):c.5051C>T (p.S1684L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864567" "0" "30" "16" "2160140" "2160140" "subst" "0" "01804" "TSC2_004517" "g.2160140C>T" "" "" "" "PKD1(NM_001009944.2):c.5028G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864568" "0" "90" "16" "2160217" "2160217" "subst" "0" "01804" "PKD1_002313" "g.2160217G>A" "" "" "" "PKD1(NM_001009944.2):c.4951C>T (p.(Gln1651*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864569" "0" "30" "16" "2160312" "2160312" "subst" "0.000616296" "01804" "PKD1_000658" "g.2160312G>A" "" "" "" "PKD1(NM_000296.3):c.4856C>T (p.(Ser1619Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864570" "0" "30" "16" "2160323" "2160323" "subst" "0.00306431" "01804" "PKD1_000842" "g.2160323G>A" "" "" "" "PKD1(NM_000296.3):c.4845C>T (p.(Asn1615=)), PKD1(NM_001009944.2):c.4845C>T (p.N1615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864571" "0" "30" "16" "2160332" "2160332" "subst" "0.00044876" "01804" "PKD1_002329" "g.2160332C>T" "" "" "" "PKD1(NM_000296.3):c.4836G>A (p.(Thr1612=)), PKD1(NM_001009944.2):c.4836G>A (p.T1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864572" "0" "70" "16" "2160341" "2160343" "del" "0" "01804" "PKD1_002332" "g.2160341_2160343del" "" "" "" "PKD1(NM_000296.3):c.4828_4830del (p.(Ile1610del)), PKD1(NM_001009944.2):c.4828_4830delATC (p.I1610del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864573" "0" "50" "16" "2160341" "2160343" "del" "0" "02327" "PKD1_002332" "g.2160341_2160343del" "" "" "" "PKD1(NM_000296.3):c.4828_4830del (p.(Ile1610del)), PKD1(NM_001009944.2):c.4828_4830delATC (p.I1610del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864574" "0" "50" "16" "2160364" "2160364" "subst" "3.26387E-5" "02325" "TSC2_004518" "g.2160364G>A" "" "" "" "PKD1(NM_001009944.3):c.4804C>T (p.R1602C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864575" "0" "90" "16" "2160371" "2160371" "subst" "0" "01804" "PKD1_002336" "g.2160371G>C" "" "" "" "PKD1(NM_001009944.2):c.4797C>G (p.(Tyr1599Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864576" "0" "30" "16" "2160380" "2160380" "subst" "0.000102005" "01804" "TSC2_004519" "g.2160380G>A" "" "" "" "PKD1(NM_000296.3):c.4788C>T (p.(Thr1596=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864577" "0" "50" "16" "2160409" "2160409" "subst" "0.000155118" "01804" "PKD1_000843" "g.2160409G>A" "" "" "" "PKD1(NM_000296.3):c.4759C>T (p.(Arg1587Cys)), PKD1(NM_001009944.2):c.4759C>T (p.R1587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864578" "0" "70" "16" "2160423" "2160423" "subst" "0" "01804" "TSC2_004520" "g.2160423C>A" "" "" "" "PKD1(NM_001009944.2):c.4745G>T (p.(Trp1582Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864579" "0" "30" "16" "2160649" "2160649" "subst" "4.90649E-5" "01804" "TSC2_004522" "g.2160649A>G" "" "" "" "PKD1(NM_000296.3):c.4519T>C (p.(Trp1507Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864580" "0" "30" "16" "2160673" "2160673" "subst" "0.00265265" "01804" "PKD1_000846" "g.2160673G>A" "" "" "" "PKD1(NM_000296.3):c.4495C>T (p.(Leu1499=)), PKD1(NM_001009944.2):c.4495C>T (p.L1499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864581" "0" "30" "16" "2160693" "2160693" "subst" "3.33553E-5" "01804" "PKD1_000739" "g.2160693C>G" "" "" "" "PKD1(NM_001009944.2):c.4475G>C (p.(Arg1492Pro), p.R1492P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864582" "0" "90" "16" "2160798" "2160798" "subst" "0" "01804" "PKD1_000485" "g.2160798G>C" "" "" "" "PKD1(NM_001009944.2):c.4370C>G (p.(Ser1457*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864583" "0" "30" "16" "2160866" "2160866" "subst" "0.00246149" "02326" "PKD1_002370" "g.2160866G>A" "" "" "" "PKD1(NM_000296.3):c.4302C>T (p.(Ile1434=)), PKD1(NM_001009944.2):c.4302C>T (p.I1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864584" "0" "50" "16" "2161032" "2161032" "subst" "5.32303E-5" "01804" "PKD1_000663" "g.2161032T>A" "" "" "" "PKD1(NM_000296.3):c.4136A>T (p.(Glu1379Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864585" "0" "70" "16" "2161032" "2161032" "subst" "9.41766E-5" "01804" "TSC2_004524" "g.2161032T>C" "" "" "" "PKD1(NM_000296.3):c.4136A>G (p.(Glu1379Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864586" "0" "30" "16" "2161097" "2161097" "subst" "0.00600857" "01804" "PKD1_002396" "g.2161097C>A" "" "" "" "PKD1(NM_000296.3):c.4071G>T (p.(Leu1357=)), PKD1(NM_001009944.2):c.4071G>T (p.L1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864587" "0" "50" "16" "2161113" "2161113" "subst" "0.000679248" "01804" "PKD1_002399" "g.2161113C>T" "" "" "" "PKD1(NM_000296.3):c.4055G>A (p.(Ser1352Asn)), PKD1(NM_001009944.2):c.4055G>A (p.S1352N), PKD1(NM_001009944.3):c.4055G>A (p.S1352N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864588" "0" "50" "16" "2161119" "2161119" "subst" "3.68418E-5" "01804" "PKD1_002401" "g.2161119G>A" "" "" "" "PKD1(NM_000296.3):c.4049C>T (p.(Thr1350Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864589" "0" "50" "16" "2161140" "2161140" "subst" "4.51067E-5" "01804" "TSC2_004525" "g.2161140G>A" "" "" "" "PKD1(NM_000296.3):c.4028C>T (p.(Pro1343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864590" "0" "30" "16" "2161154" "2161154" "subst" "0.000759841" "01943" "PKD1_002404" "g.2161154G>A" "" "" "" "PKD1(NM_000296.3):c.4014C>T (p.(Thr1338=)), PKD1(NM_001009944.2):c.4014C>T (p.T1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864591" "0" "30" "16" "2161154" "2161154" "subst" "0.000759841" "01804" "PKD1_002404" "g.2161154G>A" "" "" "" "PKD1(NM_000296.3):c.4014C>T (p.(Thr1338=)), PKD1(NM_001009944.2):c.4014C>T (p.T1338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864592" "0" "30" "16" "2161264" "2161264" "subst" "1.26059E-5" "01804" "TSC2_004380" "g.2161264C>T" "" "" "" "PKD1(NM_000296.3):c.3904G>A (p.(Ala1302Thr)), PKD1(NM_001009944.2):c.3904G>A (p.A1302T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864593" "0" "70" "16" "2161297" "2161297" "subst" "0" "01804" "TSC2_004526" "g.2161297C>A" "" "" "" "PKD1(NM_001009944.2):c.3871G>T (p.(Val1291Phe), p.V1291F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864594" "0" "90" "16" "2161301" "2161302" "ins" "0" "01804" "TSC2_004527" "g.2161301_2161302insT" "" "" "" "PKD1(NM_000296.3):c.3866_3867insA (p.(Leu1290AlafsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864595" "0" "50" "16" "2161303" "2161303" "subst" "2.56388E-5" "01804" "TSC2_004528" "g.2161303C>T" "" "" "" "PKD1(NM_000296.3):c.3865G>A (p.(Val1289Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864596" "0" "50" "16" "2161304" "2161304" "subst" "0" "01804" "TSC2_004529" "g.2161304G>T" "" "" "" "PKD1(NM_000296.3):c.3864C>A (p.(His1288Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864597" "0" "30" "16" "2161472" "2161472" "subst" "2.10782E-5" "01804" "TSC2_004530" "g.2161472G>A" "" "" "" "PKD1(NM_000296.3):c.3696C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864598" "0" "30" "16" "2161507" "2161507" "subst" "0" "01804" "TSC2_004531" "g.2161507G>A" "" "" "" "PKD1(NM_000296.3):c.3661C>T (p.(Leu1221=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864600" "0" "30" "16" "2161599" "2161599" "subst" "3.44527E-5" "01804" "PKD1_000849" "g.2161599C>T" "" "" "" "PKD1(NM_000296.3):c.3569G>A (p.(Arg1190His)), PKD1(NM_001009944.2):c.3569G>A (p.R1190H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864601" "0" "10" "16" "2161655" "2161655" "subst" "0.00711697" "01804" "PKD1_000743" "g.2161655G>C" "" "" "" "PKD1(NM_000296.3):c.3513C>G (p.(Thr1171=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864602" "0" "90" "16" "2161687" "2161687" "del" "0" "01804" "TSC2_004532" "g.2161687del" "" "" "" "PKD1(NM_001009944.2):c.3481del (p.(Trp1161Glyfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864603" "0" "30" "16" "2161738" "2161738" "subst" "0.000439322" "01804" "PKD1_002458" "g.2161738C>T" "" "" "" "PKD1(NM_000296.3):c.3430G>A (p.(Val1144Ile)), PKD1(NM_001009944.2):c.3430G>A (p.V1144I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864604" "0" "30" "16" "2161850" "2161850" "subst" "0" "01804" "TSC2_004535" "g.2161850C>T" "" "" "" "PKD1(NM_000296.3):c.3318G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864605" "0" "90" "16" "2161874" "2161874" "subst" "0" "02326" "PKD1_002469" "g.2161874T>G" "" "" "" "PKD1(NM_001009944.2):c.3296-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864606" "0" "30" "16" "2162453" "2162453" "subst" "0.00146763" "01804" "PKD1_001091" "g.2162453C>T" "" "" "" "PKD1(NM_000296.3):c.3183G>A (p.(Glu1061=)), PKD1(NM_001009944.2):c.3183G>A (p.E1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864607" "0" "70" "16" "2162789" "2162805" "del" "0" "01804" "TSC2_004538" "g.2162789_2162805del" "" "" "" "PKD1(NM_000296.3):c.3148_3161+3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864608" "0" "30" "16" "2162809" "2162809" "subst" "2.55563E-5" "01804" "TSC2_004539" "g.2162809C>T" "" "" "" "PKD1(NM_000296.3):c.3141G>A (p.(Ser1047=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864609" "0" "30" "16" "2162830" "2162830" "subst" "0" "01804" "TSC2_004540" "g.2162830C>A" "" "" "" "PKD1(NM_000296.3):c.3120G>T (p.(Thr1040=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864610" "0" "30" "16" "2162839" "2162839" "subst" "0.0380086" "01804" "PKD1_000747" "g.2162839T>C" "" "" "" "PKD1(NM_000296.3):c.3111A>G (p.(Leu1037=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864611" "0" "30" "16" "2164195" "2164195" "subst" "6.35238E-5" "01804" "PKD1_002549" "g.2164195G>C" "" "" "" "PKD1(NM_000296.3):c.2829C>G (p.(Ala943=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864612" "0" "30" "16" "2164211" "2164211" "subst" "0" "01804" "PKD1_002874" "g.2164211G>A" "" "" "" "PKD1(NM_000296.3):c.2813C>T (p.(Thr938Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864613" "0" "30" "16" "2164240" "2164240" "subst" "1.27304E-5" "01804" "PKD1_002553" "g.2164240C>T" "" "" "" "PKD1(NM_001009944.2):c.2784G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864614" "0" "30" "16" "2164354" "2164354" "subst" "0.000696614" "01804" "PKD1_002562" "g.2164354G>A" "" "" "" "PKD1(NM_000296.3):c.2670C>T (p.(Asn890=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864615" "0" "30" "16" "2164369" "2164369" "subst" "0.000920711" "01804" "PKD1_001095" "g.2164369G>A" "" "" "" "PKD1(NM_000296.3):c.2655C>T (p.(Cys885=)), PKD1(NM_001009944.2):c.2655C>T (p.C885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864616" "0" "90" "16" "2164432" "2164432" "del" "0" "01804" "TSC2_004541" "g.2164432del" "" "" "" "PKD1(NM_001009944.2):c.2592del (p.(Ser865Valfs*33))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864617" "0" "70" "16" "2164490" "2164490" "subst" "4.40975E-6" "01804" "PKD1_000053" "g.2164490A>G" "" "" "" "PKD1(NM_001009944.2):c.2534T>C (p.(Leu845Ser), p.L845S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864618" "0" "10" "16" "2164810" "2164810" "subst" "0.0063716" "01804" "PKD1_002603" "g.2164810G>C" "" "" "" "PKD1(NM_000296.3):c.2214C>G (p.(Pro738=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864619" "0" "30" "16" "2164825" "2164825" "subst" "8.62515E-6" "01804" "TSC2_004542" "g.2164825G>C" "" "" "" "PKD1(NM_000296.3):c.2199C>G (p.(Pro733=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864620" "0" "70" "16" "2164844" "2164844" "subst" "0" "01804" "PKD1_000393" "g.2164844A>G" "" "" "" "PKD1(NM_000296.3):c.2180T>C (p.(Leu727Pro)), PKD1(NM_001009944.2):c.2180T>C (p.L727P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864621" "0" "50" "16" "2164852" "2164852" "subst" "0" "01804" "TSC2_004543" "g.2164852G>A" "" "" "" "PKD1(NM_000296.3):c.2172C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864622" "0" "30" "16" "2164915" "2164915" "subst" "0.000745537" "01804" "PKD1_000755" "g.2164915G>A" "" "" "" "PKD1(NM_000296.3):c.2109C>T (p.(His703=)), PKD1(NM_001009944.2):c.2109C>T (p.H703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864623" "0" "90" "16" "2165396" "2165396" "dup" "0" "01804" "PKD1_000138" "g.2165396dup" "" "" "" "PKD1(NM_001009944.2):c.2085dup (p.(Ala696Argfs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864624" "0" "50" "16" "2165407" "2165407" "subst" "0" "01943" "TSC2_004545" "g.2165407A>G" "" "" "" "PKD1(NM_001009944.2):c.2069T>C (p.V690A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864625" "0" "90" "16" "2165427" "2165427" "subst" "0" "01804" "TSC2_004546" "g.2165427C>T" "" "" "" "PKD1(NM_000296.3):c.2049G>A (p.(Trp683*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864626" "0" "90" "16" "2165452" "2165461" "dup" "0" "01804" "PKD1_002625" "g.2165452_2165461dup" "" "" "" "PKD1(NM_001009944.2):c.2024_2025insGGCCAGGGCT (p.(Pro676Alafs*41))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864627" "0" "30" "16" "2165469" "2165469" "subst" "0" "01804" "TSC2_004547" "g.2165469G>A" "" "" "" "PKD1(NM_000296.3):c.2007C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864628" "0" "50" "16" "2165509" "2165509" "subst" "0.000125036" "01804" "PKD1_002630" "g.2165509A>T" "" "" "" "PKD1(NM_000296.3):c.1967T>A (p.(Leu656Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864629" "0" "30" "16" "2165973" "2165973" "subst" "2.71839E-5" "02326" "TSC2_004548" "g.2165973C>A" "" "" "" "PKD1(NM_001009944.2):c.1849+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864630" "0" "30" "16" "2165977" "2165983" "del" "0" "01804" "PKD1_002647" "g.2165977_2165983del" "" "" "" "PKD1(NM_000296.3):c.1849+28_1849+34del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864631" "0" "50" "16" "2165983" "2165987" "del" "0" "01804" "TSC2_004549" "g.2165983_2165987del" "" "" "" "PKD1(NM_000296.3):c.1849+6_1849+10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864632" "0" "30" "16" "2166127" "2166127" "subst" "6.72287E-6" "01804" "TSC2_004386" "g.2166127G>A" "" "" "" "PKD1(NM_000296.3):c.1723-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864633" "0" "30" "16" "2166128" "2166128" "subst" "0" "01804" "TSC2_004387" "g.2166128C>A" "" "" "" "PKD1(NM_001009944.2):c.1723-9G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864634" "0" "30" "16" "2166542" "2166542" "subst" "0.00510738" "01804" "PKD1_002674" "g.2166542G>A" "" "" "" "PKD1(NM_000296.3):c.1710C>T (p.(His570=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864635" "0" "30" "16" "2166816" "2166816" "subst" "0" "01804" "TSC2_004388" "g.2166816G>A" "" "" "" "PKD1(NM_001009944.2):c.1606+18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864636" "0" "50" "16" "2166845" "2166845" "subst" "0" "01804" "TSC2_004550" "g.2166845A>C" "" "" "" "PKD1(NM_001009944.2):c.1595T>G (p.(Leu532Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864637" "0" "50" "16" "2166846" "2166846" "subst" "0" "01804" "PKD1_002687" "g.2166846G>C" "" "" "" "PKD1(NM_001009944.2):c.1594C>G (p.(Leu532Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864638" "0" "90" "16" "2166993" "2166993" "subst" "0" "01804" "TSC2_004551" "g.2166993G>A" "" "" "" "PKD1(NM_001009944.2):c.1447C>T (p.(Gln483*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864639" "0" "30" "16" "2166997" "2166997" "subst" "7.37083E-6" "01804" "TSC2_004552" "g.2166997C>G" "" "" "" "PKD1(NM_000296.3):c.1443G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864640" "0" "70" "16" "2167057" "2167057" "subst" "0" "02326" "TSC2_004553" "g.2167057G>C" "" "" "" "PKD1(NM_001009944.2):c.1386-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864641" "0" "50" "16" "2167515" "2167515" "subst" "0" "01804" "PKD1_002711" "g.2167515G>A" "" "" "" "PKD1(NM_001009944.2):c.1360C>T (p.(Arg454Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864642" "0" "70" "16" "2167580" "2167585" "del" "0" "01804" "TSC2_004554" "g.2167580_2167585del" "" "" "" "PKD1(NM_001009944.2):c.1295_1300del (p.(Ala432_Gln433del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864643" "0" "70" "16" "2167589" "2167589" "subst" "0" "01804" "PKD1_000758" "g.2167589C>A" "" "" "" "PKD1(NM_000296.3):c.1286G>T (p.(Trp429Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864644" "0" "50" "16" "2167630" "2167630" "subst" "0" "01804" "TSC2_004389" "g.2167630G>A" "" "" "" "PKD1(NM_000296.3):c.1245C>T (p.(Gly415=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864645" "0" "70" "16" "2167682" "2167682" "subst" "0" "01804" "PKD1_000691" "g.2167682C>T" "" "" "" "PKD1(NM_000296.3):c.1202-9G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864646" "0" "90" "16" "2167795" "2167795" "subst" "1.49428E-5" "01804" "PKD1_000172" "g.2167795G>A" "" "" "" "PKD1(NM_001009944.2):c.1198C>T (p.(Arg400Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864647" "0" "30" "16" "2167970" "2167970" "subst" "0.0495596" "01804" "PKD1_001108" "g.2167970G>A" "" "" "" "PKD1(NM_000296.3):c.1023C>T (p.(Ala341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864648" "0" "70" "16" "2168019" "2168019" "subst" "0" "01804" "PKD1_000408" "g.2168019T>C" "" "" "" "PKD1(NM_001009944.2):c.974A>G (p.(Tyr325Cys), p.Y325C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864649" "0" "90" "16" "2168191" "2168191" "del" "0" "01804" "TSC2_004555" "g.2168191del" "" "" "" "PKD1(NM_001009944.2):c.802del (p.(Val268SerfsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864650" "0" "30" "16" "2168254" "2168254" "subst" "0.000934469" "02326" "PKD1_001110" "g.2168254G>A" "" "" "" "PKD1(NM_001009944.2):c.739C>T (p.L247F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864651" "0" "90" "16" "2168319" "2168319" "subst" "0" "01804" "PKD1_000143" "g.2168319G>T" "" "" "" "PKD1(NM_001009944.2):c.674C>A (p.(Ser225*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864652" "0" "50" "16" "2168328" "2168328" "subst" "0" "01804" "TSC2_004556" "g.2168328G>T" "" "" "" "PKD1(NM_001009944.2):c.665C>A (p.(Ala222Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864653" "0" "90" "16" "2168441" "2168444" "del" "0" "01804" "TSC2_004557" "g.2168441_2168444del" "" "" "" "PKD1(NM_001009944.2):c.552_555del (p.(Pro185Thrfs*104))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864654" "0" "30" "16" "2168667" "2168667" "subst" "8.74967E-5" "01804" "PKD1_002780" "g.2168667C>T" "" "" "" "PKD1(NM_000296.3):c.529+10G>A (p.(=)), PKD1(NM_001009944.2):c.529+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864655" "0" "30" "16" "2168696" "2168696" "subst" "0" "01804" "TSC2_004391" "g.2168696G>A" "" "" "" "PKD1(NM_000296.3):c.510C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864656" "0" "30" "16" "2168736" "2168736" "subst" "0" "01804" "PKD1_002784" "g.2168736C>T" "" "" "" "PKD1(NM_000296.3):c.470G>A (p.(Gly157Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864657" "0" "30" "16" "2168762" "2168762" "subst" "0" "01943" "TSC2_004558" "g.2168762C>T" "" "" "" "PKD1(NM_001009944.2):c.444G>A (p.V148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864658" "0" "90" "16" "2168769" "2168769" "del" "0" "01804" "TSC2_004559" "g.2168769del" "" "" "" "PKD1(NM_001009944.2):c.439del (p.(Val147Trpfs*143)), PKD1(NM_001009944.2):c.439delG (p.V147Wfs*143)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864659" "0" "70" "16" "2169113" "2169113" "dup" "0" "01804" "TSC2_004560" "g.2169113dup" "" "" "" "PKD1(NM_001009944.2):c.359+2dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864660" "0" "30" "16" "2169161" "2169161" "subst" "0.000314365" "01804" "PKD1_002798" "g.2169161T>A" "" "" "" "PKD1(NM_000296.3):c.313A>T (p.(Thr105Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864661" "0" "90" "16" "2169175" "2169177" "del" "0" "01804" "PKD1_000313" "g.2169175_2169177del" "" "" "" "PKD1(NM_001009944.2):c.303_305del (p.(Asn101del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864662" "0" "30" "16" "2169186" "2169186" "subst" "0.000118184" "01804" "PKD1_002801" "g.2169186C>T" "" "" "" "PKD1(NM_000296.3):c.288G>A (p.(Leu96=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864663" "0" "30" "16" "2169319" "2169319" "subst" "0.00583783" "01804" "PKD1_002809" "g.2169319C>T" "" "" "" "PKD1(NM_000296.3):c.276G>A (p.(Ala92=)), PKD1(NM_001009944.2):c.276G>A (p.A92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864664" "0" "50" "16" "2169357" "2169357" "subst" "0.00171108" "01804" "PKD1_002816" "g.2169357G>A" "" "" "" "PKD1(NM_000296.3):c.238C>T (p.(Arg80Trp)), PKD1(NM_001009944.2):c.238C>T (p.R80W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864665" "0" "30" "16" "2169357" "2169357" "subst" "0.00171108" "02326" "PKD1_002816" "g.2169357G>A" "" "" "" "PKD1(NM_000296.3):c.238C>T (p.(Arg80Trp)), PKD1(NM_001009944.2):c.238C>T (p.R80W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864666" "0" "70" "16" "2169372" "2169372" "subst" "0" "01804" "TSC2_004561" "g.2169372A>G" "" "" "" "PKD1(NM_001009944.2):c.223T>C (p.(Ser75Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000869054" "21" "70" "16" "2161691" "2161691" "subst" "0" "00006" "PKD1_002454" "g.2161691G>C" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.2111690G>C" "" "pathogenic (dominant)" "ACMG" "0000869102" "0" "70" "16" "2152218" "2152218" "subst" "0" "00006" "PKD1_001722" "g.2152218A>G" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM2, PP2, PP3, PP4, PP1" "Germline" "" "" "0" "" "" "g.2102217A>G" "" "pathogenic (dominant)" "ACMG" "0000873602" "0" "70" "16" "2156600" "2156600" "subst" "0" "00000" "PKD1_000096" "g.2156600G>A" "212" "{PMID:Sun 2018:30076350}" "" "PKD1(NM_001009944.2):c.7288C>T(p.R2430*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.2106599G>A" "" "likely pathogenic" "" "0000879695" "0" "70" "16" "2141818" "2141818" "subst" "0" "03779" "PKD1_000328" "g.2141818A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000880103" "0" "90" "16" "2147838" "2147856" "del" "0" "03779" "PKD1_000551" "g.2147838_2147856del" "" "" "" "" "" "Unknown" "" "rs1197421698" "0" "" "" "" "" "pathogenic" "" "0000881212" "0" "90" "16" "2152381" "2152381" "subst" "0" "02300" "PKD1_002908" "g.2152381C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102380C>T" "" "pathogenic (dominant)" "ACMG" "0000881329" "0" "70" "16" "2149709" "2149709" "subst" "0" "02300" "PKD1_002907" "g.2149709G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP3, PP4" "Germline/De novo (untested)" "" "rs1203304646" "0" "" "" "g.2099708G>A" "" "likely pathogenic" "ACMG" "0000892611" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "02326" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892612" "0" "90" "16" "2097709" "2097709" "subst" "0" "02326" "NTHL1_000230" "g.2097709C>T" "" "" "" "NTHL1(NM_002528.7):c.115+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892613" "0" "50" "16" "2097840" "2097840" "subst" "0" "02325" "NTHL1_000308" "g.2097840A>C" "" "" "" "TSC2(NM_000548.5):c.-256A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892614" "0" "30" "16" "2104304" "2104304" "subst" "6.09107E-5" "02330" "TSC2_001951" "g.2104304G>A" "" "" "" "TSC2(NM_000548.3):c.344G>A (p.R115H), TSC2(NM_000548.5):c.344G>A (p.R115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892615" "0" "30" "16" "2105523" "2105523" "subst" "0" "02330" "TSC2_002127" "g.2105523A>G" "" "" "" "TSC2(NM_000548.3):c.599+3A>G, TSC2(NM_000548.5):c.599+3A>G, TSC2(NM_001370404.1):c.599+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892616" "0" "30" "16" "2111895" "2111895" "subst" "0.000324971" "01804" "TSC2_000124" "g.2111895G>A" "" "" "" "TSC2(NM_000548.3):c.1143G>A (p.(Arg381=)), TSC2(NM_000548.5):c.1143G>A (p.R381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892618" "0" "90" "16" "2114394" "2114395" "del" "0" "02325" "TSC2_002949" "g.2114394_2114395del" "" "" "" "TSC2(NM_000548.5):c.1565_1566delAC (p.H522Pfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892619" "0" "30" "16" "2120475" "2120475" "subst" "0.000105705" "02325" "TSC2_000418" "g.2120475C>G" "" "" "" "TSC2(NM_000548.5):c.1735C>G (p.P579A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892620" "0" "30" "16" "2124237" "2124237" "subst" "7.33981E-5" "02330" "TSC2_002963" "g.2124237C>T" "" "" "" "TSC2(NM_000548.5):c.2392C>T (p.H798Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892621" "0" "30" "16" "2125816" "2125816" "subst" "4.88878E-5" "02326" "TSC2_002965" "g.2125816G>A" "" "" "" "TSC2(NM_000548.3):c.2562G>A (p.P854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892622" "0" "50" "16" "2125830" "2125830" "subst" "0" "02325" "TSC2_003845" "g.2125830A>C" "" "" "" "TSC2(NM_000548.5):c.2576A>C (p.N859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892623" "0" "90" "16" "2126143" "2126143" "subst" "0" "02329" "TSC2_000134" "g.2126143G>A" "" "" "" "TSC2(NM_000548.3):c.2714G>A (p.R905Q), TSC2(NM_000548.5):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892624" "0" "30" "16" "2126489" "2126489" "subst" "0.000268402" "02326" "TSC2_000480" "g.2126489C>A" "" "" "" "TSC2(NM_000548.3):c.2743-3C>A, TSC2(NM_000548.5):c.2743-3C>A, TSC2(NM_001114382.2):c.2743-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892625" "0" "50" "16" "2129061" "2129061" "subst" "8.13875E-6" "02325" "TSC2_004245" "g.2129061A>T" "" "" "" "TSC2(NM_000548.5):c.2995A>T (p.S999C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000892626" "0" "10" "16" "2129088" "2129088" "subst" "2.03384E-5" "02326" "TSC2_002370" "g.2129088G>A" "" "" "" "TSC2(NM_000548.3):c.3022G>A (p.V1008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892627" "0" "30" "16" "2134270" "2134270" "subst" "0.000109993" "02326" "TSC2_000763" "g.2134270G>A" "" "" "" "TSC2(NM_000548.3):c.4047G>A (p.A1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892628" "0" "30" "16" "2134360" "2134360" "subst" "5.31719E-5" "02326" "TSC2_004313" "g.2134360G>A" "" "" "" "TSC2(NM_000548.3):c.4137G>A (p.S1379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892629" "0" "30" "16" "2135251" "2135251" "subst" "0" "01804" "TSC2_004312" "g.2135251G>T" "" "" "" "TSC2(NM_000548.3):c.4590G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892630" "0" "30" "16" "2136277" "2136277" "subst" "8.1483E-6" "02326" "TSC2_004809" "g.2136277C>T" "" "" "" "TSC2(NM_000548.3):c.4746C>T (p.I1582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892631" "0" "70" "16" "2136751" "2136751" "subst" "0" "02329" "TSC2_001241" "g.2136751C>T" "" "" "" "TSC2(NM_000548.3):c.4868C>T (p.T1623I), TSC2(NM_000548.5):c.4868C>T (p.T1623I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892632" "0" "30" "16" "2138086" "2138086" "subst" "0.000736593" "02325" "TSC2_000643" "g.2138086C>A" "" "" "" "TSC2(NM_000548.3):c.5106C>A (p.(Ile1702=), p.I1702=), TSC2(NM_000548.5):c.5106C>A (p.I1702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892633" "0" "30" "16" "2138253" "2138253" "subst" "5.69388E-5" "02325" "TSC2_004813" "g.2138253G>A" "" "" "" "TSC2(NM_000548.5):c.5186G>A (p.R1729H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000892634" "0" "50" "16" "2138318" "2138318" "subst" "3.26525E-5" "01804" "TSC2_003683" "g.2138318C>T" "" "" "" "TSC2(NM_000548.3):c.5251C>T (p.(Arg1751Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892635" "0" "30" "16" "2138499" "2138499" "subst" "0.000179168" "02325" "TSC2_001136" "g.2138499C>T" "" "" "" "TSC2(NM_000548.5):c.5312C>T (p.P1771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892636" "0" "70" "16" "2139973" "2139984" "del" "0" "01804" "NTHL1_000315" "g.2139973_2139984del" "" "" "" "PKD1(NM_001009944.2):c.12658_12669del (p.(Glu4220_Leu4223del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892637" "0" "90" "16" "2140118" "2140118" "del" "0" "01804" "NTHL1_000316" "g.2140118del" "" "" "" "PKD1(NM_001009944.2):c.12522del (p.(Asp4174Glufs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892638" "0" "50" "16" "2140146" "2140146" "subst" "3.02952E-5" "02326" "NTHL1_000317" "g.2140146G>A" "" "" "" "PKD1(NM_001009944.2):c.12494C>T (p.S4165F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892639" "0" "90" "16" "2140192" "2140192" "subst" "0" "02326" "PKD1_000272" "g.2140192G>A" "" "" "" "PKD1(NM_001009944.2):c.12448C>T (p.(Arg4150Cys), p.R4150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892640" "0" "50" "16" "2140322" "2140322" "subst" "0" "01804" "NTHL1_000318" "g.2140322C>G" "" "" "" "PKD1(NM_001009944.2):c.12408G>C (p.(Arg4136Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892641" "0" "90" "16" "2140458" "2140459" "del" "0" "01804" "NTHL1_000319" "g.2140458_2140459del" "" "" "" "PKD1(NM_001009944.2):c.12271_12272del (p.(Trp4091Glyfs*65))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892642" "0" "90" "16" "2140466" "2140466" "del" "0" "01804" "NTHL1_000320" "g.2140466del" "" "" "" "PKD1(NM_001009944.2):c.12267del (p.(Leu4090Serfs*108))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892643" "0" "30" "16" "2140532" "2140532" "subst" "0.00113207" "02326" "PKD1_001287" "g.2140532G>A" "" "" "" "PKD1(NM_001009944.2):c.12198C>T (p.C4066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892644" "0" "30" "16" "2140568" "2140568" "subst" "0.000126676" "02326" "NTHL1_000321" "g.2140568G>A" "" "" "" "PKD1(NM_000296.3):c.12159C>T (p.(Ser4053=)), PKD1(NM_001009944.2):c.12162C>T (p.S4054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892645" "0" "30" "16" "2140658" "2140658" "subst" "0.000149722" "01804" "PKD1_001301" "g.2140658G>A" "" "" "" "PKD1(NM_000296.3):c.12135+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892646" "0" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "02327" "PKD1_000269" "g.2140803G>A" "" "" "" "PKD1(NM_001009944.2):c.12010C>T (p.Q4004*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892647" "0" "10" "16" "2140927" "2140927" "subst" "0.00453887" "01804" "PKD1_001324" "g.2140927G>A" "" "" "" "PKD1(NM_000296.3):c.11958C>T (p.(Ala3986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892648" "0" "90" "16" "2140949" "2140949" "dup" "0" "01804" "NTHL1_000322" "g.2140949dup" "" "" "" "PKD1(NM_001009944.2):c.11939dup (p.(Ala3981Glyfs*176))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892649" "0" "30" "16" "2140972" "2140972" "subst" "0.000681158" "01804" "PKD1_001330" "g.2140972G>C" "" "" "" "PKD1(NM_000296.3):c.11913C>G (p.(Arg3971=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892650" "0" "30" "16" "2141018" "2141018" "subst" "0.000614917" "02326" "PKD1_000567" "g.2141018C>T" "" "" "" "PKD1(NM_001009944.2):c.11870G>A (p.G3957D, p.(Gly3957Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892651" "0" "90" "16" "2141115" "2141115" "subst" "0" "02327" "NTHL1_000323" "g.2141115C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892652" "0" "30" "16" "2141445" "2141445" "subst" "0" "02327" "NTHL1_000324" "g.2141445G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892653" "0" "30" "16" "2141532" "2141532" "subst" "0" "01804" "NTHL1_000325" "g.2141532C>A" "" "" "" "PKD1(NM_001009944.2):c.11604G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892654" "0" "10" "16" "2141796" "2141796" "subst" "0.00162928" "02326" "PKD1_001387" "g.2141796G>A" "" "" "" "PKD1(NM_000296.3):c.11520C>T (p.(Asn3840=)), PKD1(NM_001009944.2):c.11523C>T (p.N3841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892655" "0" "30" "16" "2142030" "2142030" "subst" "0.00107234" "02326" "PKD1_001407" "g.2142030G>A" "" "" "" "PKD1(NM_001009944.2):c.11411+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892656" "0" "90" "16" "2142105" "2142105" "subst" "0" "02327" "PKD1_000585" "g.2142105C>A" "" "" "" "PKD1(NM_001009944.2):c.11354G>T (p.(Trp3785Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892657" "0" "90" "16" "2142493" "2142493" "subst" "0" "02327" "PKD1_000070" "g.2142493G>A" "" "" "" "PKD1(NM_001009944.2):c.11257C>T (p.(Arg3753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892658" "0" "70" "16" "2142955" "2142955" "subst" "0" "01804" "NTHL1_000326" "g.2142955C>A" "" "" "" "PKD1(NM_001009944.2):c.11156G>T (p.(Arg3719Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892659" "0" "50" "16" "2142956" "2142956" "subst" "0" "02325" "NTHL1_000327" "g.2142956G>A" "" "" "" "PKD1(NM_001009944.2):c.11155C>T (p.R3719W), PKD1(NM_001009944.3):c.11155C>T (p.R3719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892660" "0" "30" "16" "2143611" "2143611" "subst" "5.07769E-5" "01804" "NTHL1_000328" "g.2143611G>A" "" "" "" "PKD1(NM_000296.3):c.10947C>T (p.(His3649=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892661" "0" "30" "16" "2143955" "2143955" "subst" "0.00206345" "01804" "PKD1_000167" "g.2143955C>T" "" "" "" "PKD1(NM_000296.3):c.10675G>A (p.(Gly3559Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892662" "0" "30" "16" "2144180" "2144180" "subst" "0.00130126" "02326" "PKD1_000016" "g.2144180G>C" "" "" "" "PKD1(NM_000296.3):c.10528C>G (p.(Leu3510Val)), PKD1(NM_001009944.2):c.10531C>G (p.L3511V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892663" "0" "90" "16" "2147186" "2147186" "subst" "0" "01804" "PKD1_000458" "g.2147186G>A" "" "" "" "PKD1(NM_001009944.2):c.10462C>T (p.(Gln3488Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892664" "0" "30" "16" "2147214" "2147214" "subst" "0.000229371" "02326" "PKD1_001560" "g.2147214G>A" "" "" "" "PKD1(NM_001009944.2):c.10434C>T (p.A3478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892665" "0" "50" "16" "2147241" "2147241" "subst" "0" "02325" "PKD1_000817" "g.2147241A>T" "" "" "" "PKD1(NM_001009944.2):c.10407T>A (p.D3469E), PKD1(NM_001009944.3):c.10407T>A (p.D3469E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892666" "0" "70" "16" "2147320" "2147320" "subst" "0" "01804" "PKD1_001570" "g.2147320C>A" "" "" "" "PKD1(NM_001009944.2):c.10405G>T (p.(Asp3469Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892667" "0" "90" "16" "2147766" "2147766" "subst" "4.0705E-6" "01804" "PKD1_000110" "g.2147766G>A" "" "" "" "PKD1(NM_001009944.2):c.10183C>T (p.(Gln3395*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892668" "0" "30" "16" "2147956" "2147956" "subst" "0.000162777" "02326" "PKD1_001033" "g.2147956G>A" "" "" "" "PKD1(NM_000296.3):c.10080C>T (p.(Ala3360=)), PKD1(NM_001009944.2):c.10080C>T (p.A3360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892669" "0" "70" "16" "2149644" "2149644" "subst" "0" "01804" "PKD1_001620" "g.2149644C>T" "" "" "" "PKD1(NM_001009944.2):c.10050+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892670" "0" "50" "16" "2149725" "2149725" "subst" "0" "01804" "TSC2_004579" "g.2149725C>A" "" "" "" "PKD1(NM_000296.3):c.9970G>T (p.(Ala3324Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892671" "0" "50" "16" "2149865" "2149865" "subst" "0" "02326" "TSC2_004580" "g.2149865T>C" "" "" "" "PKD1(NM_001009944.2):c.9920A>G (p.Y3307C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892672" "0" "50" "16" "2149901" "2149901" "subst" "4.39522E-5" "01804" "PKD1_001116" "g.2149901T>C" "" "" "" "PKD1(NM_000296.3):c.9884A>G (p.(Asn3295Ser)), PKD1(NM_001009944.2):c.9884A>G (p.N3295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892673" "0" "50" "16" "2150211" "2150211" "subst" "0.000116022" "01804" "TSC2_004354" "g.2150211G>A" "" "" "" "PKD1(NM_000296.3):c.9668C>T (p.(Thr3223Met)), PKD1(NM_001009944.2):c.9668C>T (p.T3223M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892674" "0" "50" "16" "2150268" "2150268" "subst" "0" "01804" "TSC2_004581" "g.2150268T>C" "" "" "" "PKD1(NM_001009944.2):c.9611A>G (p.(Asp3204Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892675" "0" "30" "16" "2150276" "2150276" "subst" "1.63515E-5" "02326" "TSC2_004582" "g.2150276G>A" "" "" "" "PKD1(NM_001009944.2):c.9603C>T (p.I3201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892676" "0" "90" "16" "2150287" "2150287" "subst" "0" "01804" "PKD1_001672" "g.2150287G>A" "" "" "" "PKD1(NM_001009944.2):c.9592C>T (p.(Gln3198*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892677" "0" "50" "16" "2150405" "2150405" "subst" "0" "01804" "TSC2_004583" "g.2150405T>C" "" "" "" "PKD1(NM_001009944.2):c.9560A>G (p.(Asp3187Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892678" "0" "50" "16" "2150460" "2150460" "subst" "2.85544E-5" "01804" "TSC2_004584" "g.2150460G>A" "" "" "" "PKD1(NM_000296.3):c.9505C>T (p.(Arg3169Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892679" "0" "30" "16" "2152047" "2152047" "subst" "0.000179114" "01804" "TSC2_004585" "g.2152047C>T" "" "" "" "PKD1(NM_000296.3):c.9397+15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892680" "0" "50" "16" "2152089" "2152091" "del" "0" "02326" "PKD1_000554" "g.2152089_2152091del" "" "" "" "PKD1(NM_001009944.2):c.9370_9372delGTC (p.V3124del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892681" "0" "50" "16" "2152392" "2152392" "subst" "0" "01804" "TSC2_004586" "g.2152392A>G" "" "" "" "PKD1(NM_001009944.2):c.9191T>C (p.(Phe3064Ser)), PKD1(NM_001009944.3):c.9191T>C (p.F3064S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892682" "0" "30" "16" "2152427" "2152427" "subst" "0.00126628" "01804" "PKD1_001739" "g.2152427G>A" "" "" "" "PKD1(NM_000296.3):c.9156C>T (p.(Gly3052=)), PKD1(NM_001009944.2):c.9156C>T (p.G3052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892683" "0" "30" "16" "2152427" "2152427" "subst" "0.00126628" "02326" "PKD1_001739" "g.2152427G>A" "" "" "" "PKD1(NM_000296.3):c.9156C>T (p.(Gly3052=)), PKD1(NM_001009944.2):c.9156C>T (p.G3052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892684" "0" "50" "16" "2152437" "2152437" "subst" "0" "01804" "TSC2_004587" "g.2152437G>A" "" "" "" "PKD1(NM_001009944.2):c.9146C>T (p.(Thr3049Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892685" "0" "50" "16" "2152787" "2152787" "subst" "0.000546839" "02325" "PKD1_001775" "g.2152787C>A" "" "" "" "PKD1(NM_001009944.3):c.8948+28G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892686" "0" "10" "16" "2152865" "2152865" "subst" "0.0120695" "01804" "PKD1_000152" "g.2152865C>G" "" "" "" "PKD1(NM_000296.3):c.8898G>C (p.(Glu2966Asp)), PKD1(NM_000296.4):c.8898G>C (p.E2966D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892687" "0" "30" "16" "2152985" "2152985" "subst" "0.000565221" "02326" "PKD1_001806" "g.2152985C>T" "" "" "" "PKD1(NM_001009944.2):c.8792-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892688" "0" "90" "16" "2153277" "2153278" "ins" "0" "01804" "TSC2_004588" "g.2153277_2153278insT" "" "" "" "PKD1(NM_001009944.2):c.8780_8781insA (p.(Leu2928Alafs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892689" "0" "50" "16" "2153282" "2153282" "subst" "0" "01804" "TSC2_004589" "g.2153282A>T" "" "" "" "PKD1(NM_001009944.2):c.8776T>A (p.(Tyr2926Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892690" "0" "30" "16" "2153379" "2153379" "subst" "0.00356466" "02326" "PKD1_001825" "g.2153379G>C" "" "" "" "PKD1(NM_000296.3):c.8679C>G (p.(Ser2893=)), PKD1(NM_001009944.2):c.8679C>G (p.S2893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892691" "0" "30" "16" "2153395" "2153395" "subst" "0.000190137" "02326" "TSC2_004590" "g.2153395C>T" "" "" "" "PKD1(NM_001009944.2):c.8663G>A (p.R2888H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892692" "0" "10" "16" "2153414" "2153414" "subst" "0.0118265" "01804" "PKD1_001832" "g.2153414A>T" "" "" "" "PKD1(NM_000296.3):c.8644T>A (p.(Trp2882Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892693" "0" "30" "16" "2153714" "2153714" "subst" "0.000558008" "02326" "PKD1_001046" "g.2153714C>T" "" "" "" "PKD1(NM_000296.3):c.8344G>A (p.(Val2782Met)), PKD1(NM_001009944.2):c.8344G>A (p.V2782M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892694" "0" "30" "16" "2153760" "2153760" "subst" "0.000979597" "02326" "PKD1_001883" "g.2153760G>A" "" "" "" "PKD1(NM_000296.3):c.8298C>T (p.(Ser2766=)), PKD1(NM_001009944.2):c.8298C>T (p.S2766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892695" "0" "50" "16" "2153791" "2153791" "subst" "0.000176143" "01804" "TSC2_004473" "g.2153791G>A" "" "" "" "PKD1(NM_000296.3):c.8267C>T (p.(Thr2756Ile)), PKD1(NM_001009944.2):c.8267C>T (p.T2756I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892696" "0" "10" "16" "2153871" "2153871" "subst" "0.00175651" "01804" "PKD1_001896" "g.2153871C>T" "" "" "" "PKD1(NM_000296.3):c.8187G>A (p.(Ser2729=)), PKD1(NM_001009944.2):c.8187G>A (p.S2729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892697" "0" "30" "16" "2153872" "2153872" "subst" "2.97414E-5" "02326" "TSC2_004591" "g.2153872G>A" "" "" "" "PKD1(NM_001009944.2):c.8186C>T (p.S2729L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892698" "0" "50" "16" "2154523" "2154523" "subst" "0" "02326" "TSC2_004592" "g.2154523C>T" "" "" "" "PKD1(NM_001009944.2):c.8137G>A (p.G2713R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892699" "0" "30" "16" "2154536" "2154536" "subst" "0" "01804" "TSC2_004593" "g.2154536C>T" "" "" "" "PKD1(NM_000296.3):c.8124G>A (p.(Thr2708=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892700" "0" "10" "16" "2154541" "2154541" "subst" "0.000674966" "01804" "TSC2_004372" "g.2154541C>T" "" "" "" "PKD1(NM_000296.3):c.8119G>A (p.(Val2707Met)), PKD1(NM_001009944.2):c.8119G>A (p.V2707M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892701" "0" "50" "16" "2154573" "2154573" "subst" "0.0010848" "01804" "PKD1_000157" "g.2154573A>C" "" "" "" "PKD1(NM_000296.3):c.8087T>G (p.(Leu2696Arg)), PKD1(NM_001009944.2):c.8087T>G (p.L2696R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892702" "0" "30" "16" "2155311" "2155311" "subst" "8.93703E-6" "02326" "TSC2_004594" "g.2155311G>C" "" "" "" "PKD1(NM_001009944.2):c.8016+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892703" "0" "90" "16" "2155389" "2155390" "del" "0" "01804" "TSC2_004595" "g.2155389_2155390del" "" "" "" "PKD1(NM_001009944.2):c.7949_7950del (p.(Leu2650Argfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892704" "0" "90" "16" "2155424" "2155424" "subst" "0" "02326" "PKD1_000074" "g.2155424G>A" "" "" "" "PKD1(NM_001009944.2):c.7915C>T (p.(Arg2639Ter), p.R2639*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892705" "0" "30" "16" "2155870" "2155870" "subst" "0.00012702" "02325" "TSC2_004407" "g.2155870T>C" "" "" "" "PKD1(NM_001009944.2):c.7859A>G (p.N2620S), PKD1(NM_001009944.3):c.7859A>G (p.N2620S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892706" "0" "90" "16" "2155913" "2155913" "subst" "0" "01804" "PKD1_001969" "g.2155913G>A" "" "" "" "PKD1(NM_001009944.2):c.7816C>T (p.(Gln2606*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892707" "0" "30" "16" "2156112" "2156112" "subst" "0.000474751" "02326" "PKD1_000830" "g.2156112G>A" "" "" "" "PKD1(NM_001009944.2):c.7683C>T (p.A2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892708" "0" "90" "16" "2156129" "2156129" "subst" "0" "01804" "PKD1_000291" "g.2156129G>A" "" "" "" "PKD1(NM_001009944.2):c.7666C>T (p.(Gln2556*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892709" "0" "50" "16" "2156173" "2156173" "subst" "0.00034756" "01804" "PKD1_000607" "g.2156173G>A" "" "" "" "PKD1(NM_000296.3):c.7622C>T (p.(Pro2541Leu)), PKD1(NM_001009944.2):c.7622C>T (p.P2541L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892710" "0" "30" "16" "2156458" "2156458" "subst" "0.000574281" "02326" "PKD1_000270" "g.2156458C>T" "" "" "" "PKD1(NM_001009944.2):c.7430G>A (p.R2477H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892711" "0" "90" "16" "2156472" "2156472" "del" "0" "01804" "PKD1_002032" "g.2156472del" "" "" "" "PKD1(NM_001009944.2):c.7421del (p.(Gly2474Alafs*146))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892712" "0" "90" "16" "2156600" "2156600" "subst" "0" "02327" "PKD1_000096" "g.2156600G>A" "" "" "" "PKD1(NM_000296.3):c.7288C>T (p.(Arg2430*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892713" "0" "30" "16" "2156613" "2156613" "subst" "0.00228662" "02326" "PKD1_002053" "g.2156613G>A" "" "" "" "PKD1(NM_001009944.2):c.7275C>T (p.G2425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892714" "0" "90" "16" "2156805" "2156805" "subst" "0" "02326" "TSC2_004596" "g.2156805C>T" "" "" "" "PKD1(NM_001009944.2):c.7209+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892715" "0" "30" "16" "2156954" "2156954" "subst" "0.00115167" "02326" "PKD1_000618" "g.2156954C>T" "" "" "" "PKD1(NM_001009944.2):c.7066-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892716" "0" "30" "16" "2156955" "2156955" "subst" "3.55363E-5" "02326" "TSC2_004597" "g.2156955G>A" "" "" "" "PKD1(NM_001009944.2):c.7066-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892717" "0" "30" "16" "2157864" "2157864" "subst" "0.000419967" "02326" "TSC2_004598" "g.2157864G>A" "" "" "" "PKD1(NM_001009944.2):c.7065+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892718" "0" "30" "16" "2157970" "2157970" "subst" "0.000270356" "02326" "PKD1_002102" "g.2157970G>A" "" "" "" "PKD1(NM_001009944.2):c.6979C>T (p.R2327W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892719" "0" "90" "16" "2158252" "2158252" "subst" "0" "01804" "PKD1_002117" "g.2158252C>T" "" "" "" "PKD1(NM_001009944.2):c.6915+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892720" "0" "90" "16" "2158255" "2158255" "subst" "0" "01804" "TSC2_004599" "g.2158255G>A" "" "" "" "PKD1(NM_001009944.2):c.6913C>T (p.(Gln2305*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892721" "0" "30" "16" "2158304" "2158304" "subst" "0.000152913" "02326" "PKD1_002125" "g.2158304G>A" "" "" "" "PKD1(NM_001009944.2):c.6864C>T (p.D2288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892722" "0" "50" "16" "2158353" "2158353" "subst" "2.86664E-5" "01804" "PKD1_002129" "g.2158353C>T" "" "" "" "PKD1(NM_001009944.2):c.6815G>A (p.(Arg2272Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892723" "0" "30" "16" "2158424" "2158424" "subst" "3.67863E-5" "01804" "TSC2_004600" "g.2158424A>G" "" "" "" "PKD1(NM_000296.3):c.6744T>C (p.(Asn2248=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892724" "0" "50" "16" "2158429" "2158429" "subst" "1.63575E-5" "02325" "TSC2_004601" "g.2158429C>T" "" "" "" "PKD1(NM_001009944.3):c.6739G>A (p.A2247T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892725" "0" "90" "16" "2158443" "2158444" "del" "0" "01804" "PKD1_000125" "g.2158443_2158444del" "" "" "" "PKD1(NM_001009944.2):c.6727_6728del (p.(Gln2243GlufsTer18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892726" "0" "50" "16" "2158461" "2158461" "subst" "0" "01804" "TSC2_004602" "g.2158461A>C" "" "" "" "PKD1(NM_001009944.2):c.6707T>G (p.(Phe2236Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892727" "0" "50" "16" "2158510" "2158510" "subst" "8.56619E-6" "01804" "TSC2_004603" "g.2158510G>C" "" "" "" "PKD1(NM_001009944.2):c.6658C>G (p.(Arg2220Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892728" "0" "50" "16" "2158548" "2158548" "subst" "4.36491E-6" "01804" "PKD1_001122" "g.2158548G>A" "" "" "" "PKD1(NM_000296.3):c.6620C>T (p.(Pro2207Leu)), PKD1(NM_001009944.2):c.6620C>T (p.P2207L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892729" "0" "10" "16" "2158623" "2158623" "subst" "0.00112365" "02326" "PKD1_000296" "g.2158623T>C" "" "" "" "PKD1(NM_000296.3):c.6545A>G (p.(Gln2182Arg)), PKD1(NM_001009944.2):c.6545A>G (p.Q2182R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892730" "0" "30" "16" "2158623" "2158623" "subst" "0.00112365" "01804" "PKD1_000296" "g.2158623T>C" "" "" "" "PKD1(NM_000296.3):c.6545A>G (p.(Gln2182Arg)), PKD1(NM_001009944.2):c.6545A>G (p.Q2182R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892731" "0" "90" "16" "2158681" "2158681" "subst" "0" "02327" "PKD1_000129" "g.2158681G>A" "" "" "" "PKD1(NM_001009944.2):c.6487C>T (p.(Arg2163*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892732" "0" "90" "16" "2159069" "2159069" "dup" "0" "02326" "TSC2_004604" "g.2159069dup" "" "" "" "PKD1(NM_001009944.2):c.6102dupG (p.L2035Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892733" "0" "90" "16" "2159152" "2159152" "del" "0" "02326" "PKD1_000870" "g.2159152del" "" "" "" "PKD1(NM_001009944.2):c.6016delT (p.W2006Gfs*110)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892734" "0" "90" "16" "2159413" "2159413" "dup" "0" "02326" "TSC2_004605" "g.2159413dup" "" "" "" "PKD1(NM_001009944.2):c.5756dupT (p.R1920Pfs*70)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892735" "0" "50" "16" "2159464" "2159464" "subst" "0.000173466" "01804" "TSC2_004357" "g.2159464C>T" "" "" "" "PKD1(NM_000296.3):c.5704G>A (p.(Gly1902Arg)), PKD1(NM_001009944.2):c.5704G>A (p.G1902R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892736" "0" "30" "16" "2159591" "2159591" "subst" "0.000324729" "01804" "PKD1_001125" "g.2159591A>G" "" "" "" "PKD1(NM_000296.3):c.5577T>C (p.(Ala1859=)), PKD1(NM_001009944.2):c.5577T>C (p.A1859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892737" "0" "10" "16" "2159795" "2159795" "subst" "0.000687954" "01804" "PKD1_002278" "g.2159795G>A" "" "" "" "PKD1(NM_000296.3):c.5373C>T (p.(Asn1791=)), PKD1(NM_001009944.2):c.5373C>T (p.N1791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892738" "0" "30" "16" "2159861" "2159861" "subst" "0.000187875" "01804" "PKD1_002285" "g.2159861A>G" "" "" "" "PKD1(NM_000296.3):c.5307T>C (p.(His1769=)), PKD1(NM_001009944.2):c.5307T>C (p.H1769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892739" "0" "30" "16" "2160098" "2160098" "subst" "0.000129277" "02326" "PKD1_001126" "g.2160098G>A" "" "" "" "PKD1(NM_000296.3):c.5070C>T (p.(Ala1690=)), PKD1(NM_001009944.2):c.5070C>T (p.A1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892740" "0" "90" "16" "2160103" "2160103" "subst" "0" "02327" "TSC2_004606" "g.2160103C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892741" "0" "30" "16" "2160117" "2160117" "subst" "0.00255207" "01804" "PKD1_002308" "g.2160117G>A" "" "" "" "PKD1(NM_000296.3):c.5051C>T (p.(Ser1684Leu)), PKD1(NM_001009944.2):c.5051C>T (p.S1684L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892742" "0" "90" "16" "2160153" "2160154" "del" "0" "01804" "PKD1_000059" "g.2160153_2160154del" "" "" "" "PKD1(NM_001009944.2):c.5014_5015del (p.(Arg1672GlyfsTer98)), PKD1(NM_001009944.2):c.5014_5015delAG (p.R1672Gfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892743" "0" "30" "16" "2160251" "2160251" "subst" "0.00137944" "01804" "PKD1_000736" "g.2160251G>A" "" "" "" "PKD1(NM_000296.3):c.4917C>T (p.(Gly1639=)), PKD1(NM_001009944.2):c.4917C>T (p.G1639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892744" "0" "30" "16" "2160296" "2160296" "subst" "0.00051025" "01804" "PKD1_002326" "g.2160296G>A" "" "" "" "PKD1(NM_000296.3):c.4872C>T (p.(Ile1624=)), PKD1(NM_001009944.2):c.4872C>T (p.I1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892745" "0" "90" "16" "2160307" "2160307" "subst" "0" "01804" "PKD1_002327" "g.2160307G>A" "" "" "" "PKD1(NM_001009944.2):c.4861C>T (p.(Gln1621*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892746" "0" "30" "16" "2160359" "2160359" "subst" "5.30374E-5" "02326" "PKD1_002335" "g.2160359G>A" "" "" "" "PKD1(NM_000296.3):c.4809C>T (p.(Ser1603=)), PKD1(NM_001009944.2):c.4809C>T (p.S1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892747" "0" "30" "16" "2160905" "2160905" "subst" "0.00100491" "01804" "PKD1_002373" "g.2160905G>A" "" "" "" "PKD1(NM_000296.3):c.4263C>T (p.(Ala1421=)), PKD1(NM_001009944.2):c.4263C>T (p.A1421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892748" "0" "90" "16" "2160927" "2160927" "subst" "0" "02326" "TSC2_004607" "g.2160927C>T" "" "" "" "PKD1(NM_001009944.2):c.4241G>A (p.W1414*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892749" "0" "90" "16" "2161098" "2161098" "del" "0" "01804" "PKD1_000383" "g.2161098del" "" "" "" "PKD1(NM_001009944.2):c.4070del (p.(Leu1357Argfs*9)), PKD1(NM_001009944.2):c.4070delT (p.L1357Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892750" "0" "30" "16" "2161113" "2161113" "subst" "0.000679248" "02326" "PKD1_002399" "g.2161113C>T" "" "" "" "PKD1(NM_000296.3):c.4055G>A (p.(Ser1352Asn)), PKD1(NM_001009944.2):c.4055G>A (p.S1352N), PKD1(NM_001009944.3):c.4055G>A (p.S1352N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892751" "0" "90" "16" "2161160" "2161161" "del" "0" "01804" "TSC2_004608" "g.2161160_2161161del" "" "" "" "PKD1(NM_001009944.2):c.4009_4010del (p.(Thr1337Aspfs*93))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892752" "0" "10" "16" "2161233" "2161233" "subst" "0.0021446" "02326" "PKD1_002412" "g.2161233C>T" "" "" "" "PKD1(NM_000296.3):c.3935G>A (p.(Arg1312Gln)), PKD1(NM_001009944.2):c.3935G>A (p.R1312Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892753" "0" "30" "16" "2161315" "2161315" "subst" "0.000469933" "02326" "TSC2_004609" "g.2161315G>A" "" "" "" "PKD1(NM_001009944.2):c.3853C>T (p.R1285W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892754" "0" "30" "16" "2161442" "2161442" "subst" "0.000628778" "02326" "TSC2_004610" "g.2161442C>T" "" "" "" "PKD1(NM_001009944.2):c.3726G>A (p.T1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892755" "0" "30" "16" "2161489" "2161489" "subst" "0.00065278" "02326" "PKD1_001085" "g.2161489C>A" "" "" "" "PKD1(NM_000296.3):c.3679G>T (p.(Ala1227Ser)), PKD1(NM_001009944.2):c.3679G>T (p.A1227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892756" "0" "30" "16" "2161550" "2161550" "subst" "0" "02326" "PKD1_001086" "g.2161550C>T" "" "" "" "PKD1(NM_001009944.2):c.3618G>A (p.V1206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892757" "0" "10" "16" "2161666" "2161666" "subst" "0.0142609" "02327" "PKD1_001088" "g.2161666G>A" "" "" "" "PKD1(NM_000296.3):c.3502C>T (p.(Pro1168Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892758" "0" "30" "16" "2161679" "2161679" "subst" "0.00296235" "02326" "PKD1_002452" "g.2161679G>A" "" "" "" "PKD1(NM_001009944.2):c.3489C>T (p.F1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892759" "0" "30" "16" "2161744" "2161744" "subst" "0.00320048" "02326" "PKD1_000668" "g.2161744G>A" "" "" "" "PKD1(NM_001009944.2):c.3424C>T (p.R1142W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892760" "0" "30" "16" "2161808" "2161808" "subst" "0" "01804" "TSC2_004611" "g.2161808C>A" "" "" "" "PKD1(NM_000296.3):c.3360G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892761" "0" "50" "16" "2161839" "2161839" "subst" "0" "01804" "TSC2_004612" "g.2161839G>A" "" "" "" "PKD1(NM_001009944.2):c.3329C>T (p.(Ala1110Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892762" "0" "30" "16" "2162359" "2162359" "subst" "0.000701678" "02326" "PKD1_002477" "g.2162359G>A" "" "" "" "PKD1(NM_001009944.2):c.3277C>T (p.H1093Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892763" "0" "30" "16" "2162408" "2162408" "subst" "0.000330681" "02326" "PKD1_002482" "g.2162408C>T" "" "" "" "PKD1(NM_000296.3):c.3228G>A (p.(Pro1076=)), PKD1(NM_001009944.2):c.3228G>A (p.P1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892764" "0" "30" "16" "2162453" "2162453" "subst" "0.00146763" "02326" "PKD1_001091" "g.2162453C>T" "" "" "" "PKD1(NM_000296.3):c.3183G>A (p.(Glu1061=)), PKD1(NM_001009944.2):c.3183G>A (p.E1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892765" "0" "90" "16" "2162788" "2162788" "subst" "0" "02327" "TSC2_004613" "g.2162788C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892766" "0" "90" "16" "2162966" "2162966" "subst" "0" "02327" "TSC2_004614" "g.2162966T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892767" "0" "90" "16" "2164312" "2164312" "dup" "0" "01804" "TSC2_004615" "g.2164312dup" "" "" "" "PKD1(NM_001009944.2):c.2716dup (p.(Glu906Glyfs*195))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892768" "0" "90" "16" "2164401" "2164405" "dup" "0" "01804" "TSC2_004616" "g.2164401_2164405dup" "" "" "" "PKD1(NM_001009944.2):c.2631_2632insCCCTG (p.(Val878Profs*22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892769" "0" "30" "16" "2164702" "2164702" "subst" "0.000128574" "02326" "TSC2_004617" "g.2164702G>A" "" "" "" "PKD1(NM_000296.3):c.2322C>T (p.(Ala774=)), PKD1(NM_001009944.2):c.2322C>T (p.A774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892770" "0" "90" "16" "2164805" "2164805" "del" "0" "02327" "TSC2_004618" "g.2164805del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892771" "0" "30" "16" "2164831" "2164831" "subst" "0.000224432" "01804" "TSC2_004619" "g.2164831C>A" "" "" "" "PKD1(NM_000296.3):c.2193G>T (p.(Pro731=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892772" "0" "30" "16" "2164864" "2164864" "subst" "0.000102215" "02326" "TSC2_004620" "g.2164864G>A" "" "" "" "PKD1(NM_000296.3):c.2160C>T (p.(Asp720=)), PKD1(NM_001009944.2):c.2160C>T (p.D720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892773" "0" "50" "16" "2164922" "2164922" "subst" "2.04315E-5" "01804" "TSC2_004621" "g.2164922G>A" "" "" "" "PKD1(NM_000296.3):c.2102C>T (p.(Thr701Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892774" "0" "30" "16" "2165390" "2165390" "subst" "0.000246736" "02326" "PKD1_002616" "g.2165390C>T" "" "" "" "PKD1(NM_001009944.2):c.2086G>A (p.A696T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892775" "0" "30" "16" "2165444" "2165444" "subst" "3.75168E-5" "02326" "TSC2_004622" "g.2165444C>T" "" "" "" "PKD1(NM_001009944.2):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892776" "0" "30" "16" "2165512" "2165512" "subst" "7.14558E-5" "01804" "PKD1_002631" "g.2165512G>A" "" "" "" "PKD1(NM_000296.3):c.1964C>T (p.(Pro655Leu)), PKD1(NM_001009944.2):c.1964C>T (p.P655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892777" "0" "30" "16" "2166656" "2166656" "subst" "7.26037E-6" "02326" "TSC2_004623" "g.2166656G>A" "" "" "" "PKD1(NM_001009944.2):c.1607-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892778" "0" "30" "16" "2166868" "2166868" "subst" "0.00034833" "02326" "TSC2_004624" "g.2166868C>T" "" "" "" "PKD1(NM_001009944.2):c.1572G>A (p.A524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892779" "0" "30" "16" "2167552" "2167552" "subst" "0.00206118" "02326" "PKD1_002716" "g.2167552C>T" "" "" "" "PKD1(NM_000296.3):c.1323G>A (p.(Gly441=)), PKD1(NM_001009944.2):c.1323G>A (p.G441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892780" "0" "90" "16" "2167891" "2167891" "subst" "0" "01804" "TSC2_004625" "g.2167891G>A" "" "" "" "PKD1(NM_001009944.2):c.1102C>T (p.(Gln368*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892781" "0" "90" "16" "2167899" "2167912" "del" "0" "01804" "TSC2_004626" "g.2167899_2167912del" "" "" "" "PKD1(NM_001009944.2):c.1085_1098del (p.(Val362Glyfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892782" "0" "50" "16" "2167987" "2167987" "subst" "7.68214E-6" "01804" "TSC2_004627" "g.2167987C>T" "" "" "" "PKD1(NM_000296.3):c.1006G>A (p.(Val336Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892783" "0" "30" "16" "2167997" "2167997" "subst" "0" "02326" "PKD1_002740" "g.2167997G>A" "" "" "" "PKD1(NM_001009944.2):c.996C>T (p.H332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892784" "0" "30" "16" "2168022" "2168022" "subst" "0.00256961" "01804" "PKD1_000054" "g.2168022C>A" "" "" "" "PKD1(NM_000296.3):c.971G>T (p.(Arg324Leu)), PKD1(NM_001009944.2):c.971G>T (p.R324L), PKD1(NM_001009944.3):c.971G>T (p.R324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892785" "0" "50" "16" "2168103" "2168103" "subst" "3.67434E-5" "01804" "TSC2_004628" "g.2168103G>C" "" "" "" "PKD1(NM_000296.3):c.890C>G (p.(Pro297Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892786" "0" "30" "16" "2168217" "2168217" "subst" "0.00012775" "02325" "PKD1_000409" "g.2168217C>T" "" "" "" "PKD1(NM_001009944.3):c.776G>A (p.C259Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892787" "0" "30" "16" "2168268" "2168270" "del" "4.41508E-5" "02326" "TSC2_004629" "g.2168268_2168270del" "" "" "" "PKD1(NM_001009944.2):c.723_725delCTT (p.F242del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892788" "0" "30" "16" "2168390" "2168390" "subst" "0.00115561" "01804" "PKD1_000860" "g.2168390G>A" "" "" "" "PKD1(NM_000296.3):c.603C>T (p.(His201=)), PKD1(NM_001009944.2):c.603C>T (p.H201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892789" "0" "30" "16" "2168405" "2168405" "subst" "0.00249849" "01804" "PKD1_002775" "g.2168405G>A" "" "" "" "PKD1(NM_000296.3):c.588C>T (p.(Ser196=)), PKD1(NM_001009944.2):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892790" "0" "90" "16" "2168441" "2168444" "dup" "0" "02327" "TSC2_004630" "g.2168441_2168444dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892791" "0" "50" "16" "2168831" "2168831" "subst" "0" "01804" "TSC2_004631" "g.2168831G>T" "" "" "" "PKD1(NM_001009944.2):c.375C>A (p.(Asn125Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892794" "0" "90" "16" "2169128" "2169132" "del" "0" "01804" "PKD1_000312" "g.2169128_2169132del" "" "" "" "PKD1(NM_001009944.2):c.348_352del (p.(Asn116Lysfs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892795" "0" "30" "16" "2169132" "2169132" "subst" "0" "02326" "TSC2_004632" "g.2169132T>C" "" "" "" "PKD1(NM_001009944.2):c.342A>G (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892796" "0" "90" "16" "2169173" "2169173" "subst" "0" "01804" "PKD1_002800" "g.2169173T>C" "" "" "" "PKD1(NM_001009944.2):c.301A>G (p.(Asn101Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892797" "0" "30" "16" "2169193" "2169193" "subst" "0" "01804" "TSC2_004633" "g.2169193G>A" "" "" "" "PKD1(NM_001009944.2):c.288-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892798" "0" "30" "16" "2169353" "2169353" "subst" "0.000289105" "01804" "TSC2_004634" "g.2169353G>A" "" "" "" "PKD1(NM_000296.3):c.242C>T (p.(Ala81Val)), PKD1(NM_001009944.2):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892801" "0" "30" "16" "2185509" "2185509" "subst" "0" "01804" "PKD1_000760" "g.2185509G>A" "" "" "" "PKD1(NM_000296.3):c.182C>T (p.(Pro61Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905187" "1" "30" "16" "2140554" "2140554" "subst" "0.0655624" "00006" "PKD1_000782" "g.2140554G>A" "" "{PMID:Koay 2022:36281931}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "" "0000905188" "1" "90" "16" "2140586" "2140589" "delins" "0" "00006" "PKD1_002909" "g.2140586_2140589delinsTGCGGGGAAGACTGCGGGGAAGA" "" "{PMID:Koay 2022:36281931}" "" "[12141C>T];[12142G>C];[12143_12144insTCCCCGCAGTCTTCCCCGCA]" "variant includes rs1384786564 and rs1337808849" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090585_2090588delinsTGCGGGGAAGACTGCGGGGAAGA" "" "pathogenic (dominant)" "ACMG" "0000908892" "0" "50" "16" "2162784" "2162784" "subst" "0" "00006" "PKD1_002910" "g.2162784C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "inconclusive, possible exon skipping at limit detection (0.20 mosaic)" "Germline" "" "" "0" "" "" "g.2112783C>T" "" "VUS" "" "0000914499" "0" "90" "16" "2106246" "2106250" "del" "0" "02325" "TSC2_001983" "g.2106246_2106250del" "" "" "" "TSC2(NM_000548.5):c.647_648+3delAGGTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000914500" "0" "50" "16" "2106706" "2106706" "subst" "2.85602E-5" "02325" "TSC2_002607" "g.2106706C>T" "" "" "" "TSC2(NM_000548.5):c.710C>T (p.P237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914501" "0" "30" "16" "2121870" "2121870" "subst" "0.00106096" "02329" "TSC2_003308" "g.2121870G>A" "" "" "" "TSC2(NM_000548.3):c.2032G>A (p.A678T, p.(Ala678Thr)), TSC2(NM_000548.5):c.2032G>A (p.A678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914502" "0" "50" "16" "2129587" "2129587" "subst" "0" "02325" "TSC2_003927" "g.2129587C>T" "" "" "" "TSC2(NM_000548.3):c.3314C>T (p.T1105I), TSC2(NM_000548.5):c.3314C>T (p.T1105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914503" "0" "30" "16" "2140148" "2140148" "subst" "1.2986E-5" "01804" "PKD1_002899" "g.2140148G>A" "" "" "" "PKD1(NM_000296.3):c.12489C>T (p.(Arg4163=)), PKD1(NM_001009944.2):c.12492C>T (p.R4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914504" "0" "30" "16" "2140180" "2140180" "subst" "0.000926424" "02326" "PKD1_000086" "g.2140180G>A" "" "" "" "PKD1(NM_001009944.2):c.12460C>T (p.R4154C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914505" "0" "90" "16" "2140390" "2140390" "del" "0" "02326" "NTHL1_000330" "g.2140390del" "" "" "" "PKD1(NM_001009944.2):c.12340delC (p.R4114Vfs*84)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914506" "0" "30" "16" "2140601" "2140601" "subst" "0" "01804" "NTHL1_000331" "g.2140601A>G" "" "" "" "PKD1(NM_001009944.2):c.12139-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914507" "0" "30" "16" "2140603" "2140603" "subst" "0.000341717" "02326" "NTHL1_000332" "g.2140603G>A" "" "" "" "PKD1(NM_001009944.2):c.12139-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914508" "0" "30" "16" "2140912" "2140912" "subst" "4.95879E-6" "02326" "PKD1_002891" "g.2140912G>A" "" "" "" "PKD1(NM_001009944.2):c.11976C>T (p.A3992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914509" "0" "30" "16" "2141184" "2141184" "subst" "0.00047083" "02326" "PKD1_001352" "g.2141184G>T" "" "" "" "PKD1(NM_001009944.2):c.11713-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914510" "0" "30" "16" "2144027" "2144027" "del" "0.0013295" "02326" "PKD1_001536" "g.2144027del" "" "" "" "PKD1(NM_001009944.2):c.10619-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914511" "0" "90" "16" "2144126" "2144126" "subst" "0" "01804" "TSC2_004640" "g.2144126C>A" "" "" "" "PKD1(NM_001009944.2):c.10585G>T (p.(Glu3529*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914512" "0" "30" "16" "2147374" "2147374" "subst" "0.000230838" "02326" "TSC2_004641" "g.2147374C>T" "" "" "" "PKD1(NM_001009944.2):c.10351G>A (p.D3451N), PKD1(NM_001009944.3):c.10351G>A (p.D3451N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914513" "0" "50" "16" "2147410" "2147410" "subst" "0.000182869" "01804" "TSC2_004642" "g.2147410G>A" "" "" "" "PKD1(NM_000296.3):c.10312C>T (p.(Arg3438Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914514" "0" "70" "16" "2149927" "2149929" "del" "0" "02326" "PKD1_000246" "g.2149927_2149929del" "" "" "" "PKD1(NM_001009944.2):c.9859_9861delCTC (p.L3287del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914515" "0" "30" "16" "2150068" "2150068" "subst" "8.05701E-5" "02326" "TSC2_004643" "g.2150068G>A" "" "" "" "PKD1(NM_001009944.2):c.9717C>T (p.D3239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914516" "0" "70" "16" "2150556" "2150556" "subst" "0" "02326" "PKD1_001701" "g.2150556G>A" "" "" "" "PKD1(NM_001009944.2):c.9409C>T (p.H3137Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914517" "0" "50" "16" "2152088" "2152088" "subst" "0" "02327" "TSC2_004644" "g.2152088A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914518" "0" "50" "16" "2152089" "2152089" "subst" "0" "01804" "TSC2_004645" "g.2152089C>T" "" "" "" "PKD1(NM_000296.3):c.9370G>A (p.(Val3124Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914519" "0" "50" "16" "2152133" "2152147" "del" "0" "02326" "TSC2_004646" "g.2152133_2152147del" "" "" "" "PKD1(NM_001009944.2):c.9314_9328delGGGGCCGCGCCATCC (p.R3105_I3109del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914520" "0" "50" "16" "2152182" "2152182" "subst" "7.33748E-5" "01804" "TSC2_004647" "g.2152182C>T" "" "" "" "PKD1(NM_001009944.2):c.9277G>A (p.(Ala3093Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914521" "0" "30" "16" "2152255" "2152255" "subst" "0.000686813" "02326" "PKD1_001728" "g.2152255C>G" "" "" "" "PKD1(NM_001009944.2):c.9204G>C (p.E3068D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914522" "0" "30" "16" "2152803" "2152803" "subst" "0.000188932" "02326" "PKD1_001777" "g.2152803C>T" "" "" "" "PKD1(NM_001009944.2):c.8948+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914523" "0" "30" "16" "2153378" "2153378" "subst" "6.00833E-5" "02326" "TSC2_004648" "g.2153378C>T" "" "" "" "PKD1(NM_001009944.2):c.8680G>A (p.A2894T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914524" "0" "30" "16" "2153418" "2153418" "subst" "0.00032919" "01804" "TSC2_004649" "g.2153418C>T" "" "" "" "PKD1(NM_000296.3):c.8640G>A (p.(Ser2880=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914525" "0" "30" "16" "2153655" "2153655" "subst" "4.97043E-5" "02326" "TSC2_004650" "g.2153655C>T" "" "" "" "PKD1(NM_001009944.2):c.8403G>A (p.G2801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914526" "0" "30" "16" "2153914" "2153914" "subst" "7.41125E-5" "02326" "TSC2_004651" "g.2153914G>A" "" "" "" "PKD1(NM_001009944.2):c.8162-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914527" "0" "30" "16" "2154549" "2154549" "subst" "0.00142352" "01804" "PKD1_000588" "g.2154549G>A" "" "" "" "PKD1(NM_000296.3):c.8111C>T (p.(Ala2704Val)), PKD1(NM_001009944.2):c.8111C>T (p.A2704V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914528" "0" "90" "16" "2154619" "2154619" "subst" "0.000272609" "02326" "TSC2_004478" "g.2154619G>A" "" "" "" "PKD1(NM_000296.3):c.8041C>T (p.(Arg2681Cys)), PKD1(NM_001009944.2):c.8041C>T (p.R2681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914529" "0" "30" "16" "2155920" "2155920" "subst" "1.30977E-5" "02327" "TSC2_004652" "g.2155920G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914530" "0" "30" "16" "2156264" "2156264" "subst" "1.25351E-5" "02326" "PKD1_001055" "g.2156264C>T" "" "" "" "PKD1(NM_001009944.2):c.7531G>A (p.A2511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914531" "0" "50" "16" "2156588" "2156588" "subst" "0" "01804" "PKD1_000478" "g.2156588G>A" "" "" "" "PKD1(NM_001009944.2):c.7300C>T (p.(Arg2434Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914532" "0" "70" "16" "2156644" "2156644" "subst" "0" "02326" "TSC2_004653" "g.2156644A>C" "" "" "" "PKD1(NM_001009944.2):c.7244T>G (p.L2415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914533" "0" "30" "16" "2157984" "2157984" "subst" "0.000153726" "02326" "PKD1_001064" "g.2157984G>A" "" "" "" "PKD1(NM_000296.3):c.6965C>T (p.(Thr2322Met)), PKD1(NM_001009944.2):c.6965C>T (p.T2322M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914534" "0" "70" "16" "2158371" "2158371" "subst" "0" "01804" "PKD1_002133" "g.2158371C>G" "" "" "" "PKD1(NM_001009944.2):c.6797G>C (p.(Arg2266Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914535" "0" "90" "16" "2158388" "2158390" "del" "0" "02326" "PKD1_000196" "g.2158388_2158390del" "" "" "" "PKD1(NM_001009944.2):c.6778_6780del (p.(Ile2260del)), PKD1(NM_001009944.2):c.6778_6780delATT (p.I2260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914536" "0" "30" "16" "2158419" "2158419" "subst" "0.00234517" "02327" "PKD1_000079" "g.2158419G>A" "" "" "" "PKD1(NM_000296.3):c.6749C>T (p.(Thr2250Met)), PKD1(NM_001009944.2):c.6749C>T (p.T2250M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914537" "0" "90" "16" "2158439" "2158440" "del" "0" "01804" "PKD1_002140" "g.2158439_2158440del" "" "" "" "PKD1(NM_001009944.2):c.6730_6731del (p.(Ser2244Hisfs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914538" "0" "30" "16" "2158554" "2158554" "subst" "0" "02326" "TSC2_004654" "g.2158554G>A" "" "" "" "PKD1(NM_001009944.2):c.6614C>T (p.A2205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914539" "0" "50" "16" "2158627" "2158627" "subst" "0" "02326" "TSC2_004655" "g.2158627A>T" "" "" "" "PKD1(NM_001009944.2):c.6541T>A (p.(Tyr2181Asn), p.Y2181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914540" "0" "30" "16" "2158773" "2158773" "subst" "0.00031295" "02325" "PKD1_001069" "g.2158773A>C" "" "" "" "PKD1(NM_000296.3):c.6395T>G (p.(Phe2132Cys)), PKD1(NM_001009944.2):c.6395T>G (p.F2132C), PKD1(NM_001009944.3):c.6395T>G (p.F2132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914541" "0" "70" "16" "2159173" "2159173" "subst" "0" "01804" "PKD1_000374" "g.2159173C>T" "" "" "" "PKD1(NM_000296.3):c.5995G>A (p.(Gly1999Ser)), PKD1(NM_001009944.2):c.5995G>A (p.G1999S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914542" "0" "50" "16" "2159523" "2159523" "subst" "5.83572E-5" "02327" "TSC2_004656" "g.2159523G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914543" "0" "50" "16" "2159956" "2159956" "subst" "0" "01804" "TSC2_004657" "g.2159956G>C" "" "" "" "PKD1(NM_001009944.2):c.5212C>G (p.(Leu1738Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914544" "0" "30" "16" "2160359" "2160359" "subst" "5.30374E-5" "01804" "PKD1_002335" "g.2160359G>A" "" "" "" "PKD1(NM_000296.3):c.4809C>T (p.(Ser1603=)), PKD1(NM_001009944.2):c.4809C>T (p.S1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914545" "0" "50" "16" "2160423" "2160423" "subst" "0" "01804" "TSC2_004658" "g.2160423C>G" "" "" "" "PKD1(NM_001009944.2):c.4745G>C (p.(Trp1582Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914546" "0" "50" "16" "2161008" "2161008" "subst" "1.64586E-5" "01804" "TSC2_004659" "g.2161008G>A" "" "" "" "PKD1(NM_000296.3):c.4160C>T (p.(Pro1387Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914547" "0" "10" "16" "2161097" "2161097" "subst" "0.00600857" "02327" "PKD1_002396" "g.2161097C>A" "" "" "" "PKD1(NM_000296.3):c.4071G>T (p.(Leu1357=)), PKD1(NM_001009944.2):c.4071G>T (p.L1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914548" "0" "30" "16" "2161233" "2161233" "subst" "0.0021446" "01804" "PKD1_002412" "g.2161233C>T" "" "" "" "PKD1(NM_000296.3):c.3935G>A (p.(Arg1312Gln)), PKD1(NM_001009944.2):c.3935G>A (p.R1312Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914549" "0" "30" "16" "2161788" "2161788" "subst" "0.000645004" "02326" "PKD1_000669" "g.2161788G>A" "" "" "" "PKD1(NM_000296.3):c.3380C>T (p.(Pro1127Leu)), PKD1(NM_001009944.2):c.3380C>T (p.P1127L), PKD1(NM_001009944.3):c.3380C>T (p.P1127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914550" "0" "30" "16" "2162380" "2162380" "subst" "6.94908E-5" "02326" "TSC2_004660" "g.2162380G>C" "" "" "" "PKD1(NM_001009944.2):c.3256C>G (p.L1086V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914551" "0" "30" "16" "2162484" "2162484" "subst" "0" "02326" "TSC2_004661" "g.2162484C>T" "" "" "" "PKD1(NM_001009944.2):c.3162-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914552" "0" "50" "16" "2163269" "2163269" "subst" "0" "02327" "TSC2_004662" "g.2163269C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914553" "0" "30" "16" "2164433" "2164433" "subst" "3.05035E-5" "02326" "TSC2_004663" "g.2164433C>T" "" "" "" "PKD1(NM_001009944.2):c.2591G>A (p.G864D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914554" "0" "90" "16" "2164844" "2164844" "subst" "0" "02326" "PKD1_000393" "g.2164844A>G" "" "" "" "PKD1(NM_000296.3):c.2180T>C (p.(Leu727Pro)), PKD1(NM_001009944.2):c.2180T>C (p.L727P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914555" "0" "30" "16" "2164864" "2164864" "subst" "0.000102215" "01804" "TSC2_004620" "g.2164864G>A" "" "" "" "PKD1(NM_000296.3):c.2160C>T (p.(Asp720=)), PKD1(NM_001009944.2):c.2160C>T (p.D720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914556" "0" "50" "16" "2165389" "2165389" "subst" "7.48761E-6" "01804" "TSC2_004423" "g.2165389G>A" "" "" "" "PKD1(NM_000296.3):c.2087C>T (p.(Ala696Val)), PKD1(NM_001009944.2):c.2087C>T (p.A696V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914557" "0" "50" "16" "2165484" "2165484" "subst" "0" "01804" "TSC2_004664" "g.2165484G>C" "" "" "" "PKD1(NM_001009944.2):c.1992C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914558" "0" "50" "16" "2168353" "2168353" "subst" "0" "02327" "TSC2_004665" "g.2168353A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914559" "0" "70" "16" "2168364" "2168364" "subst" "0" "02329" "PKD1_002771" "g.2168364C>T" "" "" "" "PKD1(NM_001009944.3):c.629G>A (p.C210Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914560" "0" "90" "16" "2168769" "2168769" "del" "0" "02326" "TSC2_004559" "g.2168769del" "" "" "" "PKD1(NM_001009944.2):c.439del (p.(Val147Trpfs*143)), PKD1(NM_001009944.2):c.439delG (p.V147Wfs*143)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000921197" "0" "90" "16" "2168375" "2168375" "dup" "0" "03779" "PKD1_002912" "g.2168375dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000922075" "0" "90" "16" "2158595" "2158614" "dup" "0" "01741" "PKD1_002911" "g.2158595_2158614dup" "" "" "" "" "c.9499A>T, p.(Ile3167Phe) in unknown phase" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108594_2108613dup" "" "pathogenic" "" "0000922205" "0" "50" "16" "2150466" "2150466" "subst" "0.000991262" "01741" "PKD1_000190" "g.2150466T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000926163" "0" "90" "16" "2097709" "2097709" "subst" "0" "02327" "NTHL1_000230" "g.2097709C>T" "" "" "" "NTHL1(NM_002528.7):c.115+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926164" "0" "30" "16" "2103392" "2103392" "subst" "0.00100189" "02325" "TSC2_000963" "g.2103392A>T" "" "" "" "TSC2(NM_000548.3):c.275A>T (p.(Glu92Val), p.E92V), TSC2(NM_000548.5):c.275A>T (p.E92V), TSC2(NM_001114382.2):c.275A>T (p.E92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926165" "0" "30" "16" "2114406" "2114406" "subst" "5.28189E-5" "02330" "TSC2_002679" "g.2114406G>C" "" "" "" "TSC2(NM_000548.5):c.1577G>C (p.S526T), TSC2(NM_001114382.2):c.1577G>C (p.S526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926166" "0" "50" "16" "2120500" "2120500" "subst" "0" "02327" "TSC2_003476" "g.2120500A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000926167" "0" "30" "16" "2121811" "2121811" "subst" "0.000283472" "02330" "TSC2_002020" "g.2121811A>C" "" "" "" "TSC2(NM_000548.5):c.1973A>C (p.K658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926168" "0" "50" "16" "2122913" "2122913" "subst" "0" "02325" "TSC2_001324" "g.2122913T>A" "" "" "" "TSC2(NM_000548.5):c.2284T>A (p.L762M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000926170" "0" "30" "16" "2127595" "2127595" "subst" "0.0008537" "02329" "TSC2_000488" "g.2127595A>G" "" "" "" "TSC2(NM_000548.5):c.2838-4A>G, TSC2(NM_001114382.2):c.2838-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926171" "0" "50" "16" "2134470" "2134493" "del" "0" "02329" "TSC2_004311" "g.2134470_2134493del" "" "" "" "TSC2(NM_000548.5):c.4247_4270delCCCGGTCACAGTCAGGGACCCTGG (p.A1416_L1423del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000926172" "0" "10" "16" "2138219" "2138219" "subst" "0.00311057" "02329" "TSC2_000297" "g.2138219C>T" "" "" "" "PKD1(NM_001009944.3):c.*1509G>A, TSC2(NM_000548.3):c.5161-9C>T, TSC2(NM_000548.5):c.5161-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926173" "0" "30" "16" "2139740" "2139740" "subst" "7.17573E-5" "02326" "NTHL1_000336" "g.2139740G>A" "" "" "" "PKD1(NM_001009944.2):c.12900C>T (p.P4300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926174" "0" "50" "16" "2139999" "2139999" "subst" "2.55413E-5" "01804" "NTHL1_000337" "g.2139999C>T" "" "" "" "PKD1(NM_001009944.2):c.12641G>A (p.(Arg4214His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926175" "0" "30" "16" "2140432" "2140432" "subst" "0" "01804" "NTHL1_000338" "g.2140432G>T" "" "" "" "PKD1(NM_001009944.2):c.12298C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926176" "0" "30" "16" "2140460" "2140460" "subst" "0.000486535" "01804" "PKD1_001271" "g.2140460G>C" "" "" "" "PKD1(NM_000296.3):c.12267C>G (p.(Leu4089=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926177" "0" "50" "16" "2140512" "2140512" "subst" "3.78973E-5" "01804" "NTHL1_000339" "g.2140512G>A" "" "" "" "PKD1(NM_000296.3):c.12215C>T (p.(Thr4072Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926178" "0" "90" "16" "2140689" "2140689" "subst" "0" "02326" "PKD1_000003" "g.2140689G>A" "" "" "" "PKD1(NM_001009944.2):c.12124C>T (p.Q4042*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926179" "0" "90" "16" "2140800" "2140800" "subst" "0" "01804" "PKD1_000055" "g.2140800G>A" "" "" "" "PKD1(NM_001009944.2):c.12013C>T (p.(Gln4005*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926180" "0" "70" "16" "2140811" "2140811" "subst" "0" "01804" "NTHL1_000340" "g.2140811T>A" "" "" "" "PKD1(NM_001009944.2):c.12004-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926181" "0" "50" "16" "2143636" "2143636" "subst" "0" "02326" "NTHL1_000341" "g.2143636C>G" "" "" "" "PKD1(NM_001009944.2):c.10925G>C (p.R3642P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926182" "0" "30" "16" "2144181" "2144181" "subst" "0.000285339" "02326" "TSC2_004676" "g.2144181C>T" "" "" "" "PKD1(NM_001009944.2):c.10530G>A (p.T3510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926183" "0" "30" "16" "2147362" "2147362" "subst" "0.000288408" "02326" "PKD1_001576" "g.2147362G>A" "" "" "" "PKD1(NM_001009944.2):c.10363C>T (p.L3455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926184" "0" "50" "16" "2149705" "2149705" "subst" "0" "01804" "TSC2_004677" "g.2149705G>T" "" "" "" "PKD1(NM_001009944.2):c.9990C>A (p.(Ser3330Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926185" "0" "30" "16" "2150076" "2150076" "subst" "0.000937609" "02326" "TSC2_004678" "g.2150076G>A" "" "" "" "PKD1(NM_001009944.2):c.9713-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926186" "0" "30" "16" "2153908" "2153908" "subst" "0.000341243" "02326" "TSC2_004679" "g.2153908C>T" "" "" "" "PKD1(NM_001009944.2):c.8162-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926187" "0" "30" "16" "2154480" "2154480" "subst" "0" "01804" "TSC2_004680" "g.2154480G>A" "" "" "" "PKD1(NM_001009944.2):c.8161+19C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926188" "0" "90" "16" "2155326" "2155326" "subst" "0" "02326" "TSC2_004681" "g.2155326G>T" "" "" "" "PKD1(NM_001009944.2):c.8013C>A (p.C2671*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926189" "0" "30" "16" "2155402" "2155402" "subst" "0.000219645" "02326" "PKD1_000474" "g.2155402A>G" "" "" "" "PKD1(NM_001009944.2):c.7937T>C (p.I2646T), PKD1(NM_001009944.3):c.7937T>C (p.(Ile2646Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926190" "0" "30" "16" "2156425" "2156425" "subst" "0.000463563" "02326" "PKD1_000613" "g.2156425G>A" "" "" "" "PKD1(NM_001009944.2):c.7463C>T (p.T2488I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926191" "0" "30" "16" "2158729" "2158729" "subst" "0.000247962" "02326" "PKD1_002178" "g.2158729G>A" "" "" "" "PKD1(NM_001009944.2):c.6439C>T (p.R2147W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926192" "0" "90" "16" "2159108" "2159108" "del" "0" "02329" "TSC2_004682" "g.2159108del" "" "" "" "PKD1(NM_001009944.3):c.6061delC (p.L2021Cfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926193" "0" "70" "16" "2159173" "2159173" "subst" "0" "02326" "PKD1_000374" "g.2159173C>T" "" "" "" "PKD1(NM_000296.3):c.5995G>A (p.(Gly1999Ser)), PKD1(NM_001009944.2):c.5995G>A (p.G1999S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926194" "0" "90" "16" "2159245" "2159245" "subst" "0" "01804" "PKD1_000510" "g.2159245G>A" "" "" "" "PKD1(NM_001009944.2):c.5923C>T (p.(Gln1975*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926195" "0" "50" "16" "2159410" "2159410" "subst" "1.73202E-5" "02327" "TSC2_004683" "g.2159410G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926196" "0" "70" "16" "2160341" "2160343" "del" "0" "02326" "PKD1_002332" "g.2160341_2160343del" "" "" "" "PKD1(NM_000296.3):c.4828_4830del (p.(Ile1610del)), PKD1(NM_001009944.2):c.4828_4830delATC (p.I1610del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926197" "0" "90" "16" "2161685" "2161685" "subst" "0" "01804" "PKD1_000239" "g.2161685C>T" "" "" "" "PKD1(NM_001009944.2):c.3483G>A (p.(Trp1161Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926198" "0" "30" "16" "2162944" "2162944" "subst" "0.00119089" "01804" "PKD1_002509" "g.2162944C>G" "" "" "" "PKD1(NM_000296.3):c.3006G>C (p.(Val1002=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926199" "0" "30" "16" "2164369" "2164369" "subst" "0.000920711" "02326" "PKD1_001095" "g.2164369G>A" "" "" "" "PKD1(NM_000296.3):c.2655C>T (p.(Cys885=)), PKD1(NM_001009944.2):c.2655C>T (p.C885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926200" "0" "50" "16" "2164524" "2164524" "subst" "4.19948E-5" "01804" "TSC2_004684" "g.2164524C>T" "" "" "" "PKD1(NM_001009944.2):c.2500G>A (p.(Gly834Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926201" "0" "50" "16" "2169171" "2169171" "subst" "0" "01804" "TSC2_004685" "g.2169171G>C" "" "" "" "PKD1(NM_001009944.2):c.303C>G (p.(Asn101Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926202" "0" "30" "16" "2169319" "2169319" "subst" "0.00583783" "02326" "PKD1_002809" "g.2169319C>T" "" "" "" "PKD1(NM_000296.3):c.276G>A (p.(Ala92=)), PKD1(NM_001009944.2):c.276G>A (p.A92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926203" "0" "30" "16" "2169353" "2169353" "subst" "0.000289105" "02326" "TSC2_004634" "g.2169353G>A" "" "" "" "PKD1(NM_000296.3):c.242C>T (p.(Ala81Val)), PKD1(NM_001009944.2):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927520" "0" "70" "16" "2154646" "2154646" "subst" "0" "03779" "PKD1_002913" "g.2154646G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000927611" "0" "70" "16" "2169139" "2169139" "subst" "0" "03779" "PKD1_002914" "g.2169139G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000930526" "0" "30" "16" "2120585" "2120585" "subst" "0.000432311" "02329" "TSC2_000425" "g.2120585G>A" "" "" "" "TSC2(NM_000548.3):c.1839+6G>A, TSC2(NM_000548.5):c.1839+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930527" "0" "10" "16" "2122868" "2122868" "subst" "0.00118286" "02326" "TSC2_000449" "g.2122868C>T" "" "" "" "TSC2(NM_000548.3):c.2239C>T (p.L747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930528" "0" "10" "16" "2129045" "2129045" "subst" "0.000863178" "02329" "TSC2_000491" "g.2129045G>A" "" "" "" "TSC2(NM_000548.3):c.2979G>A (p.T993=, p.(Thr993=)), TSC2(NM_000548.5):c.2979G>A (p.T993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930529" "0" "30" "16" "2135260" "2135260" "subst" "2.03654E-5" "02329" "TSC2_004069" "g.2135260C>T" "" "" "" "TSC2(NM_000548.3):c.4599C>T (p.L1533=), TSC2(NM_000548.5):c.4599C>T (p.L1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930530" "0" "30" "16" "2140085" "2140085" "subst" "4.16022E-6" "01804" "NTHL1_000342" "g.2140085C>G" "" "" "" "PKD1(NM_000296.3):c.12552G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930531" "0" "10" "16" "2140454" "2140454" "subst" "0.186045" "02325" "PKD1_000780" "g.2140454T>C" "" "" "" "PKD1(NM_001009944.3):c.12276A>G (p.A4092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930533" "0" "90" "16" "2140944" "2140944" "subst" "0" "01804" "PKD1_000320" "g.2140944G>A" "" "" "" "PKD1(NM_001009944.2):c.11944C>T (p.(Gln3982Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930534" "0" "30" "16" "2141520" "2141520" "subst" "0.00138194" "02326" "PKD1_001370" "g.2141520C>T" "" "" "" "PKD1(NM_001009944.2):c.11616G>A (p.E3872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930535" "0" "30" "16" "2141796" "2141796" "subst" "0.00162928" "01804" "PKD1_001387" "g.2141796G>A" "" "" "" "PKD1(NM_000296.3):c.11520C>T (p.(Asn3840=)), PKD1(NM_001009944.2):c.11523C>T (p.N3841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930536" "0" "30" "16" "2142103" "2142103" "subst" "0.000530149" "02326" "PKD1_002853" "g.2142103C>G" "" "" "" "PKD1(NM_000296.3):c.11353G>C (p.(Glu3785Gln)), PKD1(NM_001009944.2):c.11356G>C (p.E3786Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930537" "0" "50" "16" "2143591" "2143591" "subst" "0" "01804" "NTHL1_000343" "g.2143591G>A" "" "" "" "PKD1(NM_001009944.2):c.10970C>T (p.(Ala3657Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930539" "0" "30" "16" "2147485" "2147485" "subst" "0.000391966" "01804" "PKD1_001588" "g.2147485C>T" "" "" "" "PKD1(NM_000296.3):c.10237G>A (p.(Gly3413Ser)), PKD1(NM_001009944.2):c.10240G>A (p.G3414S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930540" "0" "30" "16" "2150092" "2150092" "subst" "0.000736565" "02326" "PKD1_001655" "g.2150092G>A" "" "" "" "PKD1(NM_001009944.2):c.9713-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930541" "0" "30" "16" "2150509" "2150509" "subst" "0.000414277" "02326" "PKD1_001694" "g.2150509C>T" "" "" "" "PKD1(NM_001009944.2):c.9456G>A (p.R3152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930542" "0" "30" "16" "2153370" "2153370" "subst" "8.58406E-6" "02326" "TSC2_004688" "g.2153370G>A" "" "" "" "PKD1(NM_001009944.2):c.8688C>T (p.S2896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930543" "0" "70" "16" "2153704" "2153704" "subst" "0" "02326" "PKD1_000174" "g.2153704C>T" "" "" "" "PKD1(NM_001009944.2):c.8354G>A (p.G2785D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930544" "0" "50" "16" "2153767" "2153767" "subst" "0" "01804" "PKD1_000029" "g.2153767A>G" "" "" "" "PKD1(NM_001009944.2):c.8291T>C (p.(Met2764Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930545" "0" "50" "16" "2153771" "2153771" "subst" "0" "01804" "PKD1_000030" "g.2153771G>C" "" "" "" "PKD1(NM_000296.3):c.8287C>G (p.(Leu2763Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930546" "0" "50" "16" "2153776" "2153776" "subst" "0" "01804" "PKD1_000031" "g.2153776C>G" "" "" "" "PKD1(NM_000296.3):c.8282G>C (p.(Arg2761Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930547" "0" "50" "16" "2153779" "2153779" "subst" "0" "01804" "PKD1_000032" "g.2153779A>G" "" "" "" "PKD1(NM_000296.3):c.8279T>C (p.(Met2760Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930548" "0" "30" "16" "2155932" "2155932" "subst" "4.34926E-6" "01804" "TSC2_004689" "g.2155932C>T" "" "" "" "PKD1(NM_000296.3):c.7797G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930549" "0" "50" "16" "2156544" "2156544" "subst" "0" "02326" "PKD1_002043" "g.2156544G>C" "" "" "" "PKD1(NM_001009944.2):c.7344C>G (p.L2448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930550" "0" "30" "16" "2156891" "2156891" "subst" "0.000341112" "02326" "PKD1_002076" "g.2156891G>A" "" "" "" "PKD1(NM_000296.3):c.7124C>T (p.(Ala2375Val)), PKD1(NM_001009944.2):c.7124C>T (p.A2375V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930551" "0" "50" "16" "2157888" "2157888" "subst" "0" "01804" "PKD1_002094" "g.2157888T>C" "" "" "" "PKD1(NM_001009944.2):c.7061A>G (p.(Gln2354Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930552" "0" "30" "16" "2157890" "2157890" "subst" "0" "01804" "TSC2_004690" "g.2157890G>A" "" "" "" "PKD1(NM_001009944.2):c.7059C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930553" "0" "30" "16" "2157956" "2157956" "subst" "8.39889E-5" "02326" "TSC2_004691" "g.2157956C>T" "" "" "" "PKD1(NM_001009944.2):c.6993G>A (p.A2331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930554" "0" "50" "16" "2157997" "2157997" "subst" "0" "01804" "PKD1_002104" "g.2157997G>A" "" "" "" "PKD1(NM_000296.3):c.6952C>T (p.(Arg2318Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930555" "0" "30" "16" "2159183" "2159183" "subst" "4.22951E-5" "02326" "TSC2_004508" "g.2159183G>A" "" "" "" "PKD1(NM_000296.3):c.5985C>T (p.(Arg1995=)), PKD1(NM_001009944.2):c.5985C>T (p.R1995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930556" "0" "30" "16" "2159316" "2159316" "subst" "0.00050912" "02326" "TSC2_004376" "g.2159316C>T" "" "" "" "PKD1(NM_001009944.2):c.5852G>A (p.R1951Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930557" "0" "30" "16" "2159805" "2159805" "subst" "0.000340551" "02326" "PKD1_001077" "g.2159805C>T" "" "" "" "PKD1(NM_001009944.2):c.5363G>A (p.G1788D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930558" "0" "50" "16" "2160078" "2160078" "subst" "0" "01804" "TSC2_004692" "g.2160078A>G" "" "" "" "PKD1(NM_001009944.2):c.5090T>C (p.(Leu1697Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930559" "0" "30" "16" "2160296" "2160296" "subst" "0.00051025" "02326" "PKD1_002326" "g.2160296G>A" "" "" "" "PKD1(NM_000296.3):c.4872C>T (p.(Ile1624=)), PKD1(NM_001009944.2):c.4872C>T (p.I1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930561" "0" "50" "16" "2160780" "2160780" "subst" "0" "02325" "TSC2_004693" "g.2160780T>G" "" "" "" "PKD1(NM_001009944.2):c.4388A>C (p.(Gln1463Pro)), PKD1(NM_001009944.3):c.4388A>C (p.Q1463P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930562" "0" "90" "16" "2160862" "2160862" "subst" "0" "02326" "PKD1_000301" "g.2160862G>A" "" "" "" "PKD1(NM_001009944.2):c.4306C>T (p.R1436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930563" "0" "30" "16" "2160903" "2160903" "subst" "1.22518E-5" "02326" "TSC2_004694" "g.2160903G>T" "" "" "" "PKD1(NM_001009944.2):c.4265C>A (p.A1422D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930564" "0" "30" "16" "2161065" "2161065" "subst" "2.45278E-5" "02325" "PKD1_002392" "g.2161065G>A" "" "" "" "PKD1(NM_001009944.3):c.4103C>T (p.A1368V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930565" "0" "90" "16" "2161248" "2161257" "del" "0" "02326" "PKD1_001083" "g.2161248_2161257del" "" "" "" "PKD1(NM_001009944.2):c.3914_3923delTCCCCACGCA (p.I1305Sfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930566" "0" "30" "16" "2161760" "2161760" "subst" "1.76639E-5" "01804" "TSC2_004695" "g.2161760G>A" "" "" "" "PKD1(NM_001009944.2):c.3408C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930567" "0" "70" "16" "2166858" "2166858" "subst" "0" "02327" "TSC2_004696" "g.2166858A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930568" "0" "50" "16" "2167848" "2167848" "subst" "0" "02326" "PKD1_002730" "g.2167848C>T" "" "" "" "PKD1(NM_001009944.2):c.1145G>A (p.G382D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930569" "0" "70" "16" "2167852" "2167852" "subst" "0" "02327" "PKD1_000183" "g.2167852C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931623" "0" "50" "16" "2166618" "2166618" "subst" "0" "03282" "PKD1_002915" "g.2166618A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2116617A>G" "" "VUS" "ACMG" "0000950538" "0" "90" "16" "2096239" "2096239" "subst" "0.00142689" "01804" "NTHL1_000001" "g.2096239G>A" "" "" "" "NTHL1(NM_001318193.1):c.268C>T (p.(Gln90Ter)), NTHL1(NM_002528.7):c.244C>T (p.Q82*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950539" "0" "10" "16" "2096384" "2096384" "subst" "0.0026114" "02329" "NTHL1_000008" "g.2096384G>A" "" "" "" "NTHL1(NM_002528.7):c.116-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950540" "0" "50" "16" "2098279" "2098279" "subst" "7.08175E-6" "02325" "TSC2_001513" "g.2098279A>G" "" "" "" "TSC2(NM_000548.5):c.-30+213A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950541" "0" "10" "16" "2098578" "2098578" "subst" "0.000752528" "02329" "TSC2_003022" "g.2098578G>C" "" "" "" "TSC2(NM_000548.3):c.-29-10G>C, TSC2(NM_000548.5):c.-29-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950542" "0" "30" "16" "2103368" "2103368" "subst" "0.000326174" "02329" "TSC2_000718" "g.2103368C>T" "" "" "" "TSC2(NM_000548.3):c.251C>T (p.A84V), TSC2(NM_000548.5):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950543" "0" "90" "16" "2105417" "2105417" "subst" "0" "02329" "TSC2_000080" "g.2105417C>T" "" "" "" "TSC2(NM_000548.3):c.496C>T (p.Q166*), TSC2(NM_000548.5):c.496C>T (p.Q166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950544" "0" "30" "16" "2105506" "2105506" "subst" "1.62425E-5" "02329" "TSC2_001456" "g.2105506C>T" "" "" "" "TSC2(NM_000548.5):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950545" "0" "50" "16" "2105507" "2105507" "subst" "3.24852E-5" "02325" "TSC2_000356" "g.2105507G>A" "" "" "" "TSC2(NM_000548.3):c.586G>A (p.A196T), TSC2(NM_000548.5):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950546" "0" "50" "16" "2106741" "2106741" "subst" "4.09675E-6" "02325" "TSC2_001984" "g.2106741G>A" "" "" "" "TSC2(NM_000548.5):c.745G>A (p.V249I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950547" "0" "10" "16" "2108724" "2108724" "subst" "0.00024052" "02329" "TSC2_002335" "g.2108724C>T" "" "" "" "TSC2(NM_000548.3):c.849-24C>T, TSC2(NM_000548.5):c.849-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950548" "0" "30" "16" "2113058" "2113058" "subst" "0.000154541" "02326" "TSC2_000698" "g.2113058C>T" "" "" "" "TSC2(NM_000548.3):c.1443+4C>T, TSC2(NM_000548.5):c.1443+4C>T, TSC2(NM_001114382.2):c.1443+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950549" "0" "10" "16" "2132422" "2132422" "subst" "0.00208155" "02329" "TSC2_000536" "g.2132422G>A" "" "" "" "TSC2(NM_000548.3):c.3815-15G>A, TSC2(NM_000548.5):c.3815-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950550" "0" "50" "16" "2136246" "2136246" "subst" "4.07382E-6" "02325" "TSC2_004808" "g.2136246C>T" "" "" "" "TSC2(NM_000548.5):c.4715C>T (p.T1572M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950551" "0" "30" "16" "2136725" "2136725" "subst" "0" "02329" "TSC2_004810" "g.2136725A>C" "" "" "" "TSC2(NM_000548.5):c.4850-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000950552" "0" "10" "16" "2137902" "2137902" "subst" "0.000407734" "02329" "TSC2_000631" "g.2137902G>A" "" "" "" "TSC2(NM_000548.3):c.5028G>A (p.L1676=), TSC2(NM_000548.5):c.5028G>A (p.L1676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950554" "0" "30" "16" "2138499" "2138499" "subst" "0.000179168" "02330" "TSC2_001136" "g.2138499C>T" "" "" "" "TSC2(NM_000548.5):c.5312C>T (p.P1771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950555" "0" "30" "16" "2139989" "2139989" "subst" "0.000547888" "02326" "PKD1_001212" "g.2139989G>A" "" "" "" "PKD1(NM_001009944.2):c.12651C>T (p.A4217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950556" "0" "30" "16" "2140148" "2140148" "subst" "1.2986E-5" "02326" "PKD1_002899" "g.2140148G>A" "" "" "" "PKD1(NM_000296.3):c.12489C>T (p.(Arg4163=)), PKD1(NM_001009944.2):c.12492C>T (p.R4164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950557" "0" "10" "16" "2140954" "2140954" "subst" "0.000910853" "02326" "PKD1_001327" "g.2140954G>A" "" "" "" "PKD1(NM_001009944.2):c.11934C>T (p.D3978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950558" "0" "90" "16" "2141025" "2141025" "subst" "0" "02327" "PKD1_000321" "g.2141025G>A" "" "" "" "PKD1(NM_001009944.2):c.11863C>T (p.Q3955*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950559" "0" "90" "16" "2141025" "2141025" "subst" "0" "02326" "PKD1_000321" "g.2141025G>A" "" "" "" "PKD1(NM_001009944.2):c.11863C>T (p.Q3955*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950560" "0" "90" "16" "2141122" "2141122" "subst" "0" "01804" "PKD1_000323" "g.2141122C>T" "" "" "" "PKD1(NM_001009944.2):c.11766G>A (p.(Trp3922Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950561" "0" "30" "16" "2143751" "2143751" "del" "0" "01804" "PKD1_001507" "g.2143751del" "" "" "" "PKD1(NM_000296.3):c.10819-8delC (p.(=)), PKD1(NM_001009944.2):c.10822-8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950562" "0" "30" "16" "2147485" "2147485" "subst" "0.000391966" "02326" "PKD1_001588" "g.2147485C>T" "" "" "" "PKD1(NM_000296.3):c.10237G>A (p.(Gly3413Ser)), PKD1(NM_001009944.2):c.10240G>A (p.G3414S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950563" "0" "50" "16" "2152145" "2152145" "subst" "1.80104E-5" "01804" "TSC2_004706" "g.2152145C>T" "" "" "" "PKD1(NM_000296.3):c.9314G>A (p.(Arg3105Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950564" "0" "30" "16" "2152889" "2152889" "subst" "5.72499E-5" "01804" "PKD1_001792" "g.2152889C>T" "" "" "" "PKD1(NM_000296.3):c.8874G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950565" "0" "90" "16" "2153560" "2153560" "subst" "0" "02327" "TSC2_004707" "g.2153560G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950566" "0" "30" "16" "2153688" "2153688" "subst" "0.00013725" "02326" "TSC2_004708" "g.2153688C>T" "" "" "" "PKD1(NM_001009944.2):c.8370G>A (p.P2790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950567" "0" "50" "16" "2153749" "2153749" "subst" "0" "02326" "TSC2_004709" "g.2153749T>C" "" "" "" "PKD1(NM_001009944.2):c.8309A>G (p.N2770S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950568" "0" "50" "16" "2153810" "2153812" "del" "0" "02325" "TSC2_004710" "g.2153810_2153812del" "" "" "" "PKD1(NM_001009944.3):c.8247_8249delGTC (p.S2750del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950569" "0" "30" "16" "2154492" "2154492" "subst" "0.000144286" "02326" "TSC2_004405" "g.2154492G>A" "" "" "" "PKD1(NM_000296.3):c.8161+7C>T (p.(=)), PKD1(NM_001009944.2):c.8161+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950570" "0" "90" "16" "2154644" "2154645" "del" "0" "02327" "PKD1_000120" "g.2154644_2154645del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950571" "0" "90" "16" "2155985" "2155998" "del" "0" "01804" "TSC2_004711" "g.2155985_2155998del" "" "" "" "PKD1(NM_001009944.2):c.7732_7745del (p.(Asn2578GlyfsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950572" "0" "30" "16" "2156459" "2156459" "subst" "0.00116944" "01804" "PKD1_001058" "g.2156459G>A" "" "" "" "PKD1(NM_000296.3):c.7429C>T (p.(Arg2477Cys)), PKD1(NM_001009944.2):c.7429C>T (p.R2477C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950573" "0" "30" "16" "2156568" "2156568" "subst" "8.9736E-6" "01804" "TSC2_004712" "g.2156568G>A" "" "" "" "PKD1(NM_000296.3):c.7320C>T (p.(Asp2440=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950574" "0" "50" "16" "2156916" "2156916" "subst" "0" "02326" "TSC2_004713" "g.2156916A>G" "" "" "" "PKD1(NM_001009944.2):c.7099T>C (p.S2367P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950575" "0" "90" "16" "2156951" "2156951" "subst" "0" "01804" "PKD1_002086" "g.2156951T>C" "" "" "" "PKD1(NM_001009944.2):c.7066-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950576" "0" "50" "16" "2158627" "2158627" "subst" "0" "01804" "TSC2_004655" "g.2158627A>T" "" "" "" "PKD1(NM_001009944.2):c.6541T>A (p.(Tyr2181Asn), p.Y2181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950577" "0" "30" "16" "2158838" "2158838" "subst" "8.12716E-5" "02326" "PKD1_002186" "g.2158838G>A" "" "" "" "PKD1(NM_001009944.2):c.6330C>T (p.A2110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950578" "0" "90" "16" "2159804" "2159804" "del" "0" "02326" "TSC2_004714" "g.2159804del" "" "" "" "PKD1(NM_001009944.2):c.5364delC (p.S1789Qfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950580" "0" "90" "16" "2161822" "2161822" "subst" "0" "02326" "TSC2_004715" "g.2161822G>A" "" "" "" "PKD1(NM_001009944.2):c.3346C>T (p.Q1116*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950581" "0" "90" "16" "2162471" "2162471" "subst" "0" "02326" "TSC2_004716" "g.2162471C>T" "" "" "" "PKD1(NM_001009944.2):c.3165G>A (p.W1055*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950582" "0" "90" "16" "2164520" "2164521" "del" "0" "02327" "TSC2_004717" "g.2164520_2164521del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950583" "0" "50" "16" "2167060" "2167060" "subst" "0" "01804" "TSC2_004718" "g.2167060G>T" "" "" "" "PKD1(NM_000296.3):c.1386-6C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950584" "0" "50" "16" "2168140" "2168140" "subst" "9.55338E-6" "02325" "TSC2_004719" "g.2168140C>T" "" "" "" "PKD1(NM_001009944.3):c.853G>A (p.A285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950585" "0" "50" "16" "2168292" "2168292" "subst" "3.79276E-5" "01804" "TSC2_004720" "g.2168292G>A" "" "" "" "PKD1(NM_001009944.2):c.701C>T (p.(Ala234Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950586" "0" "70" "16" "2168364" "2168364" "subst" "0" "02327" "PKD1_002771" "g.2168364C>T" "" "" "" "PKD1(NM_001009944.3):c.629G>A (p.C210Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950587" "0" "50" "16" "2169317" "2169317" "subst" "0" "01804" "TSC2_004721" "g.2169317A>G" "" "" "" "PKD1(NM_000296.3):c.278T>C (p.(Leu93Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952226" "11" "90" "16" "2156512" "2156512" "subst" "0" "00006" "PKD1_002040" "g.2156512C>T" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "Germline" "" "" "0" "" "" "g.2106511C>T" "" "pathogenic (dominant)" "" "0000960244" "11" "50" "16" "2153758" "2153758" "subst" "4.10155E-6" "00006" "PKD1_001880" "g.2153758C>T" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.2103757C>T" "1256450" "VUS" "" "0000960282" "21" "50" "16" "2153767" "2153767" "subst" "0" "00006" "PKD1_000029" "g.2153767A>G" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.2103766A>G" "976837" "VUS" "" "0000968159" "0" "30" "16" "2103467" "2103467" "subst" "0" "02329" "TSC2_001452" "g.2103467C>T" "" "" "" "TSC2(NM_000548.5):c.336+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968163" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "01943" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968166" "0" "30" "16" "2112516" "2112516" "subst" "0.00118043" "01943" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968167" "0" "30" "16" "2115651" "2115651" "subst" "4.90882E-5" "02329" "TSC2_003534" "g.2115651C>T" "" "" "" "TSC2(NM_000548.5):c.1716+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000968168" "0" "30" "16" "2120559" "2120559" "subst" "0.000651238" "02329" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968169" "0" "50" "16" "2120559" "2120559" "subst" "0.000651238" "01943" "TSC2_000008" "g.2120559G>A" "" "" "" "TSC2(NM_000548.3):c.1819G>A (p.A607T), TSC2(NM_000548.5):c.1819G>A (p.A607T), TSC2(NM_001114382.2):c.1819G>A (p.A607T), TSC2(NM_001114382.3):c.1819..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968170" "0" "10" "16" "2121911" "2121911" "subst" "0.000938692" "02326" "TSC2_000435" "g.2121911C>T" "" "" "" "TSC2(NM_000548.3):c.2073C>T (p.R691=), TSC2(NM_000548.5):c.2073C>T (p.R691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968172" "0" "10" "16" "2124416" "2124416" "subst" "0.00281194" "02329" "TSC2_000468" "g.2124416G>A" "" "" "" "TSC2(NM_000548.3):c.2545+26G>A, TSC2(NM_000548.5):c.2545+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968173" "0" "30" "16" "2126499" "2126499" "subst" "8.53749E-5" "02329" "TSC2_002364" "g.2126499G>A" "" "" "" "TSC2(NM_000548.3):c.2750G>A (p.R917Q), TSC2(NM_000548.5):c.2750G>A (p.R917Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968177" "0" "30" "16" "2134208" "2134208" "subst" "8.93325E-5" "02329" "TSC2_002379" "g.2134208C>T" "" "" "" "TSC2(NM_000548.3):c.4006-21C>T, TSC2(NM_000548.5):c.4006-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968178" "0" "50" "16" "2134985" "2134987" "del" "0" "01804" "TSC2_000017" "g.2134985_2134987del" "" "" "" "TSC2(NM_000548.3):c.4527_4529del (p.(Phe1510del)), TSC2(NM_000548.3):c.4527_4529delCTT (p.F1510del), TSC2(NM_000548.5):c.4527_4529delCTT (p.F1510d...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968179" "0" "30" "16" "2137857" "2137857" "subst" "0.00229678" "01943" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968180" "0" "50" "16" "2138240" "2138240" "subst" "0" "02329" "TSC2_004812" "g.2138240G>A" "" "" "" "TSC2(NM_000548.5):c.5173G>A (p.V1725M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000968181" "0" "10" "16" "2138508" "2138508" "subst" "0.00233816" "02330" "TSC2_000891" "g.2138508G>C" "" "" "" "TSC2(NM_000548.3):c.5321G>C (p.S1774T), TSC2(NM_000548.5):c.5321G>C (p.S1774T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968183" "0" "30" "16" "2139824" "2139824" "subst" "0.000257003" "02326" "NTHL1_000351" "g.2139824G>A" "" "" "" "PKD1(NM_001009944.2):c.12816C>T (p.S4272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968184" "0" "10" "16" "2140269" "2140269" "dup" "0" "01804" "PKD1_001248" "g.2140269dup" "" "" "" "MIR1225(NR_030646.1):n.23dup (-)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968185" "0" "90" "16" "2140782" "2140782" "subst" "0" "01804" "PKD1_000044" "g.2140782G>A" "" "" "" "PKD1(NM_001009944.2):c.12031C>T (p.(Gln4011Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968188" "0" "30" "16" "2143546" "2143546" "subst" "0.000429801" "02326" "PKD1_000594" "g.2143546C>T" "" "" "" "LOC105371049(NR_135175.1):n.303+533C>T, PKD1(NM_000296.3):c.11012G>A (p.(Arg3671Gln)), PKD1(NM_001009944.2):c.11015G>A (p.R3672Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968189" "0" "30" "16" "2147374" "2147374" "subst" "0.000230838" "02325" "TSC2_004641" "g.2147374C>T" "" "" "" "PKD1(NM_001009944.2):c.10351G>A (p.D3451N), PKD1(NM_001009944.3):c.10351G>A (p.D3451N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968190" "0" "30" "16" "2149642" "2149642" "subst" "0" "02325" "TSC2_004725" "g.2149642C>T" "" "" "" "PKD1(NM_001009944.3):c.10050+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968191" "0" "30" "16" "2150067" "2150067" "subst" "0.000392674" "02326" "PKD1_001652" "g.2150067C>T" "" "" "" "PKD1(NM_001009944.2):c.9718G>A (p.A3240T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968192" "0" "70" "16" "2150275" "2150275" "subst" "0" "02327" "TSC2_004726" "g.2150275C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968193" "0" "70" "16" "2150422" "2150422" "subst" "0" "02326" "TSC2_004727" "g.2150422C>A" "" "" "" "PKD1(NM_001009944.2):c.9543G>T (p.K3181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968195" "0" "30" "16" "2150581" "2150581" "subst" "4.1746E-6" "02326" "TSC2_004728" "g.2150581G>T" "" "" "" "PKD1(NM_001009944.2):c.9398-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968196" "0" "50" "16" "2152163" "2152163" "subst" "0" "02326" "TSC2_004729" "g.2152163T>A" "" "" "" "PKD1(NM_001009944.2):c.9296A>T (p.D3099V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968197" "0" "50" "16" "2152383" "2152383" "subst" "5.95191E-5" "01804" "TSC2_004730" "g.2152383G>C" "" "" "" "PKD1(NM_000296.3):c.9200C>G (p.(Pro3067Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968198" "0" "50" "16" "2152392" "2152392" "subst" "0" "02325" "TSC2_004586" "g.2152392A>G" "" "" "" "PKD1(NM_001009944.2):c.9191T>C (p.(Phe3064Ser)), PKD1(NM_001009944.3):c.9191T>C (p.F3064S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968199" "0" "90" "16" "2152597" "2152601" "del" "0" "01804" "TSC2_004731" "g.2152597_2152601del" "" "" "" "PKD1(NM_001009944.2):c.8984_8988del (p.(Leu2995GlnfsTer72))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968200" "0" "30" "16" "2152601" "2152601" "subst" "0.00016385" "02326" "TSC2_004732" "g.2152601G>A" "" "" "" "PKD1(NM_001009944.2):c.8982C>T (p.N2994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968201" "0" "90" "16" "2152603" "2152613" "del" "0" "01804" "TSC2_004733" "g.2152603_2152613del" "" "" "" "PKD1(NM_001009944.2):c.8970_8980del (p.(Ser2990ArgfsTer75))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968202" "0" "70" "16" "2152830" "2152830" "subst" "0" "02326" "PKD1_001781" "g.2152830A>C" "" "" "" "PKD1(NM_001009944.2):c.8933T>G (p.F2978C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968203" "0" "50" "16" "2152875" "2152875" "subst" "0" "02327" "TSC2_004734" "g.2152875A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968204" "0" "90" "16" "2153265" "2153265" "subst" "0" "02326" "TSC2_004735" "g.2153265A>T" "" "" "" "PKD1(NM_001009944.2):c.8791+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968205" "0" "70" "16" "2153282" "2153282" "subst" "0" "02327" "TSC2_004589" "g.2153282A>T" "" "" "" "PKD1(NM_001009944.2):c.8776T>A (p.(Tyr2926Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968206" "0" "10" "16" "2153379" "2153379" "subst" "0.00356466" "01804" "PKD1_001825" "g.2153379G>C" "" "" "" "PKD1(NM_000296.3):c.8679C>G (p.(Ser2893=)), PKD1(NM_001009944.2):c.8679C>G (p.S2893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968208" "0" "70" "16" "2153758" "2153758" "subst" "0" "02327" "PKD1_001881" "g.2153758C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968209" "0" "30" "16" "2153760" "2153760" "subst" "0.000979597" "01804" "PKD1_001883" "g.2153760G>A" "" "" "" "PKD1(NM_000296.3):c.8298C>T (p.(Ser2766=)), PKD1(NM_001009944.2):c.8298C>T (p.S2766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968210" "0" "30" "16" "2153765" "2153765" "subst" "0.00456926" "02325" "PKD1_000442" "g.2153765G>A" "" "" "" "PKD1(NM_000296.3):c.8293C>T (p.(Arg2765Cys)), PKD1(NM_001009944.2):c.8293C>T (p.R2765C), PKD1(NM_001009944.3):c.8293C>T (p.R2765C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968213" "0" "50" "16" "2156123" "2156125" "del" "0" "01804" "TSC2_004736" "g.2156123_2156125del" "" "" "" "PKD1(NM_001009944.2):c.7671_7673del (p.(Asp2557_Gln2558delinsGlu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968214" "0" "70" "16" "2156307" "2156307" "subst" "0" "01804" "TSC2_004737" "g.2156307T>A" "" "" "" "PKD1(NM_001009944.2):c.7490-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968215" "0" "50" "16" "2156458" "2156458" "subst" "0" "01804" "TSC2_004738" "g.2156458C>G" "" "" "" "PKD1(NM_001009944.2):c.7430G>C (p.(Arg2477Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968216" "0" "30" "16" "2156685" "2156685" "subst" "0.00019529" "02326" "TSC2_004739" "g.2156685G>A" "" "" "" "PKD1(NM_001009944.2):c.7210-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968217" "0" "10" "16" "2158233" "2158233" "subst" "0.000924932" "01804" "PKD1_002113" "g.2158233C>T" "" "" "" "PKD1(NM_000296.3):c.6915+20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968218" "0" "50" "16" "2158531" "2158531" "subst" "8.46246E-6" "02326" "TSC2_004498" "g.2158531G>A" "" "" "" "PKD1(NM_000296.3):c.6637C>T (p.(Arg2213Trp)), PKD1(NM_001009944.2):c.6637C>T (p.R2213W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968219" "0" "90" "16" "2158626" "2158626" "dup" "0" "01804" "TSC2_004740" "g.2158626dup" "" "" "" "PKD1(NM_001009944.2):c.6542dup (p.(Tyr2181Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968220" "0" "90" "16" "2158801" "2158801" "subst" "0" "01804" "TSC2_004741" "g.2158801G>A" "" "" "" "PKD1(NM_001009944.2):c.6367C>T (p.(Gln2123Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968221" "0" "30" "16" "2159017" "2159017" "subst" "0.00021938" "02326" "PKD1_000641" "g.2159017G>A" "" "" "" "PKD1(NM_000296.3):c.6151C>T (p.(Arg2051Cys)), PKD1(NM_001009944.2):c.6151C>T (p.R2051C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968222" "0" "30" "16" "2159357" "2159357" "subst" "0.000184175" "02326" "TSC2_004742" "g.2159357G>C" "" "" "" "PKD1(NM_001009944.2):c.5811C>G (p.S1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968223" "0" "50" "16" "2159464" "2159464" "subst" "0.000173466" "02327" "TSC2_004357" "g.2159464C>T" "" "" "" "PKD1(NM_000296.3):c.5704G>A (p.(Gly1902Arg)), PKD1(NM_001009944.2):c.5704G>A (p.G1902R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968225" "0" "50" "16" "2159667" "2159667" "subst" "6.58367E-5" "01804" "TSC2_004743" "g.2159667T>C" "" "" "" "PKD1(NM_000296.3):c.5501A>G (p.(Asn1834Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968226" "0" "50" "16" "2159982" "2159982" "subst" "0" "02326" "TSC2_004744" "g.2159982G>A" "" "" "" "PKD1(NM_001009944.2):c.5186C>T (p.P1729L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968227" "0" "30" "16" "2160026" "2160026" "subst" "0.000173483" "02326" "TSC2_004745" "g.2160026G>A" "" "" "" "PKD1(NM_001009944.2):c.5142C>T (p.F1714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968229" "0" "30" "16" "2160514" "2160514" "subst" "0.00022127" "02326" "TSC2_004746" "g.2160514C>T" "" "" "" "PKD1(NM_001009944.2):c.4654G>A (p.V1552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968230" "0" "30" "16" "2161437" "2161437" "subst" "0.00015918" "02326" "TSC2_004747" "g.2161437G>A" "" "" "" "PKD1(NM_001009944.2):c.3731C>T (p.T1244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968231" "0" "90" "16" "2164348" "2164349" "del" "0" "01804" "TSC2_004748" "g.2164348_2164349del" "" "" "" "PKD1(NM_001009944.2):c.2676_2677del (p.(Leu893ValfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968233" "0" "70" "16" "2164490" "2164490" "subst" "4.40975E-6" "02326" "PKD1_000053" "g.2164490A>G" "" "" "" "PKD1(NM_001009944.2):c.2534T>C (p.(Leu845Ser), p.L845S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968234" "0" "90" "16" "2164701" "2164716" "del" "0" "02326" "TSC2_004749" "g.2164701_2164716del" "" "" "" "PKD1(NM_001009944.2):c.2311_2326delCTGCTTGCAGCCACGG (p.L771Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968235" "0" "30" "16" "2164758" "2164758" "subst" "0.000179323" "02326" "TSC2_004750" "g.2164758C>T" "" "" "" "PKD1(NM_001009944.2):c.2266G>A (p.A756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968237" "0" "30" "16" "2166901" "2166901" "subst" "0.0387228" "01804" "PKD1_002694" "g.2166901G>A" "" "" "" "PKD1(NM_000296.3):c.1539C>T (p.(Pro513=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968238" "0" "90" "16" "2167044" "2167044" "subst" "0" "02326" "PKD1_001105" "g.2167044C>T" "" "" "" "PKD1(NM_000296.3):c.1396G>A (p.(Val466Met)), PKD1(NM_001009944.2):c.1396G>A (p.V466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968239" "0" "10" "16" "2167552" "2167552" "subst" "0.00206118" "01804" "PKD1_002716" "g.2167552C>T" "" "" "" "PKD1(NM_000296.3):c.1323G>A (p.(Gly441=)), PKD1(NM_001009944.2):c.1323G>A (p.G441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968240" "0" "30" "16" "2167870" "2167870" "subst" "0.000223055" "02326" "TSC2_004751" "g.2167870G>T" "" "" "" "PKD1(NM_001009944.2):c.1123C>A (p.L375I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968242" "0" "10" "16" "2167874" "2167874" "subst" "0.896737" "02326" "PKD1_000859" "g.2167874G>A" "" "" "" "PKD1(NM_001009944.2):c.1119C>T (p.L373=), PKD1(NM_001009944.3):c.1119C>T (p.L373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968244" "0" "30" "16" "2168006" "2168006" "subst" "0" "02326" "TSC2_004752" "g.2168006C>A" "" "" "" "PKD1(NM_001009944.2):c.987G>T (p.G329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968245" "0" "50" "16" "2168019" "2168019" "subst" "0" "01804" "TSC2_004753" "g.2168019T>G" "" "" "" "PKD1(NM_001009944.2):c.974A>C (p.(Tyr325Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968246" "0" "30" "16" "2169177" "2169177" "subst" "7.81983E-5" "01804" "TSC2_004754" "g.2169177G>A" "" "" "" "PKD1(NM_000296.3):c.297C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968247" "0" "30" "16" "2169293" "2169293" "subst" "7.09365E-5" "02326" "TSC2_004755" "g.2169293C>T" "" "" "" "PKD1(NM_001009944.2):c.287+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968248" "0" "30" "16" "2169396" "2169396" "subst" "0.000144438" "02326" "TSC2_004756" "g.2169396C>T" "" "" "" "PKD1(NM_001009944.2):c.216-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968251" "0" "10" "16" "2185584" "2185584" "subst" "0" "02326" "PKD1_001113" "g.2185584G>T" "" "" "" "PKD1(NM_000296.3):c.107C>A (p.(Pro36His)), PKD1(NM_001009944.2):c.107C>A (p.P36H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000972397" "1" "90" "16" "2154644" "2154645" "del" "0" "00006" "PKD1_000120" "g.2154644_2154645del" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "ACMG PVS1, PM2, PS4, PS3, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.2104643_2104644del" "" "pathogenic (dominant)" "ACMG" "0000972398" "1" "90" "16" "2150403" "2150405" "del" "0" "00006" "PKD1_000229" "g.2150403_2150405del" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "ACMG PS4, PM2, PM4, PM5, PM1, PP1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100402_2100404del" "" "pathogenic (dominant)" "ACMG" "0000972402" "0" "70" "16" "2141425" "2141425" "subst" "0" "00006" "PKD1_001358" "g.2141425G>C" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091424G>C" "" "likely pathogenic (dominant)" "" "0000972403" "0" "90" "16" "2143009" "2143009" "subst" "0" "00006" "PKD1_002920" "g.2143009A>C" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093008A>C" "" "pathogenic (dominant)" "" "0000972404" "0" "90" "16" "2159523" "2159523" "subst" "5.83572E-5" "00006" "TSC2_004656" "g.2159523G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109522G>A" "" "pathogenic (dominant)" "" "0000972405" "0" "90" "16" "2153464" "2153464" "subst" "0.000194524" "00006" "PKD1_002926" "g.2153464C>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103463C>T" "" "pathogenic (dominant)" "" "0000972406" "0" "90" "16" "2141446" "2141447" "del" "0" "00006" "PKD1_002918" "g.2141446_2141447del" "" "{PMID:Fujimaru 2018:29520754}" "" "11692_11693delTC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091445_2091446del" "" "pathogenic (dominant)" "" "0000972407" "0" "50" "16" "2161117" "2161117" "subst" "0.0012075" "00006" "PKD1_000302" "g.2161117G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111116G>A" "" "VUS" "" "0000972408" "0" "90" "16" "2164535" "2164535" "dup" "0" "00006" "PKD1_000794" "g.2164535dup" "" "{PMID:Fujimaru 2018:29520754}" "" "2494dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114534dup" "" "pathogenic (dominant)" "" "0000972409" "0" "70" "16" "2156249" "2156249" "subst" "0" "00006" "PKD1_000292" "g.2156249G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106248G>A" "" "likely pathogenic (dominant)" "" "0000972410" "0" "90" "16" "2141072" "2141072" "subst" "0" "00006" "PKD1_002917" "g.2141072C>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091071C>T" "" "pathogenic (dominant)" "" "0000972412" "0" "90" "16" "2161561" "2161561" "subst" "0" "00006" "PKD1_002935" "g.2161561G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111560G>A" "" "pathogenic (dominant)" "" "0000972413" "0" "90" "16" "2150460" "2150460" "subst" "2.85544E-5" "00006" "TSC2_004584" "g.2150460G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100459G>A" "" "pathogenic (dominant)" "" "0000972417" "0" "90" "16" "2166918" "2166918" "subst" "0" "00006" "PKD1_002937" "g.2166918A>C" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2116917A>C" "" "pathogenic (dominant)" "" "0000972418" "0" "90" "16" "2147416" "2147416" "subst" "0" "00006" "PKD1_002922" "g.2147416G>C" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2097415G>C" "" "pathogenic (dominant)" "" "0000972419" "0" "90" "16" "2153429" "2153429" "del" "0" "00006" "PKD1_002925" "g.2153429del" "" "{PMID:Fujimaru 2018:29520754}" "" "8631delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103428del" "" "pathogenic (dominant)" "" "0000972420" "0" "90" "16" "2167588" "2167588" "subst" "0" "00006" "PKD1_002938" "g.2167588C>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2117587C>T" "" "pathogenic (dominant)" "" "0000972421" "0" "90" "16" "2161719" "2161719" "subst" "4.83704E-6" "00006" "PKD1_002936" "g.2161719G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111718G>A" "" "pathogenic (dominant)" "" "0000972422" "0" "70" "16" "2141522" "2141522" "subst" "0" "00006" "PKD1_001371" "g.2141522C>G" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091521C>G" "" "likely pathogenic (dominant)" "" "0000972423" "0" "90" "16" "2150293" "2150293" "subst" "0" "00006" "PKD1_002924" "g.2150293A>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100292A>T" "" "pathogenic (dominant)" "" "0000972424" "0" "90" "16" "2141564" "2141567" "dup" "0" "00006" "PKD1_002919" "g.2141564_2141567dup" "" "{PMID:Fujimaru 2018:29520754}" "" "11569_11572dupTACA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091563_2091566dup" "" "pathogenic (dominant)" "" "0000972425" "0" "90" "16" "2159398" "2159398" "subst" "0.000121997" "00006" "PKD1_002932" "g.2159398C>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109397C>T" "" "pathogenic (dominant)" "" "0000972426" "0" "90" "16" "2158372" "2158372" "subst" "0" "00006" "PKD1_002929" "g.2158372G>C" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108371G>C" "" "pathogenic (dominant)" "" "0000972427" "0" "90" "16" "2158430" "2158437" "del" "0" "00006" "PKD1_002930" "g.2158430_2158437del" "" "{PMID:Fujimaru 2018:29520754}" "" "6733_6740delATCCAGGC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108429_2108436del" "" "pathogenic (dominant)" "" "0000972428" "0" "90" "16" "2158696" "2158696" "subst" "0" "00006" "PKD1_000198" "g.2158696G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108695G>A" "" "pathogenic (dominant)" "" "0000972429" "0" "90" "16" "2185761" "2185767" "dup" "0" "00006" "PKD1_002940" "g.2185761_2185767dup" "" "{PMID:Fujimaru 2018:29520754}" "" "-70_-69dupGGGCCCC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2135760_2135766dup" "" "pathogenic (dominant)" "" "0000972430" "0" "90" "16" "2166565" "2166565" "subst" "0" "00006" "PKD1_000182" "g.2166565G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2116564G>A" "" "pathogenic (dominant)" "" "0000972431" "0" "90" "16" "2159855" "2159855" "dup" "0" "00006" "PKD1_002933" "g.2159855dup" "" "{PMID:Fujimaru 2018:29520754}" "" "5316dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109854dup" "" "pathogenic (dominant)" "" "0000972432" "0" "90" "16" "2156915" "2156915" "subst" "9.59684E-5" "00006" "PKD1_002928" "g.2156915G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106914G>A" "" "pathogenic (dominant)" "" "0000972433" "0" "50" "16" "2156507" "2156507" "subst" "0" "00006" "PKD1_002927" "g.2156507C>G" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106506C>G" "" "VUS" "" "0000972448" "0" "50" "16" "2161078" "2161078" "subst" "4.08904E-5" "00006" "PKD1_002934" "g.2161078G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111077G>A" "" "VUS" "" "0000972449" "0" "50" "16" "2158014" "2158014" "subst" "0.000361635" "00006" "PKD1_002106" "g.2158014G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108013G>A" "" "VUS" "" "0000972451" "0" "50" "16" "2142126" "2142126" "subst" "0.000465094" "00006" "PKD1_001425" "g.2142126G>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2092125G>T" "" "VUS" "" "0000972452" "0" "50" "16" "2143657" "2143657" "subst" "1.70416E-5" "00006" "PKD1_002921" "g.2143657G>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093656G>T" "" "VUS" "" "0000972453" "0" "50" "16" "2168145" "2168145" "subst" "0" "00006" "PKD1_002939" "g.2168145G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118144G>A" "" "VUS" "" "0000972454" "0" "50" "16" "2158488" "2158488" "subst" "4.16528E-6" "00006" "PKD1_002931" "g.2158488T>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108487T>A" "" "VUS" "" "0000972457" "0" "50" "16" "2153278" "2153278" "subst" "0.00012088" "00006" "PKD1_001816" "g.2153278G>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103277G>A" "" "VUS" "" "0000972464" "1" "90" "16" "2185587" "2185588" "dup" "0" "00006" "PKD1_000207" "g.2185587_2185588dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2135586_2135587dup" "" "pathogenic (dominant)" "" "0000972465" "1" "90" "16" "2185582" "2185582" "del" "0" "00006" "PKD1_002834" "g.2185582del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2135581del" "" "pathogenic (dominant)" "" "0000972466" "1" "90" "16" "2185518" "2185539" "del" "0" "00006" "PKD1_002823" "g.2185518_2185539del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2135517_2135538del" "" "pathogenic (dominant)" "" "0000972467" "0" "90" "16" "2185524" "2185530" "del" "0" "00006" "PKD1_000414" "g.2185524_2185530del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2135523_2135529del" "" "pathogenic (dominant)" "" "0000972468" "0" "90" "16" "2169380" "2169380" "subst" "0" "00006" "PKD1_002819" "g.2169380C>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2119379C>G" "" "pathogenic (dominant)" "" "0000972469" "1" "90" "16" "2185475" "2185899" "del" "0" "00006" "PKD1_000929" "g.(2169380_2185475)_(2185899_?)del" "" "{PMID:Audrezet 2012:22508176}" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(2119379_2135474)_(2135898_?)del" "" "pathogenic (dominant)" "" "0000972470" "1" "90" "16" "2185475" "2185899" "del" "0" "00006" "PKD1_000929" "g.(2169380_2185475)_(2185899_?)del" "" "{PMID:Audrezet 2012:22508176}" "" "del ex1" "" "Germline" "yes" "" "0" "" "" "g.(2119379_2135474)_(2135898_?)del" "" "pathogenic (dominant)" "" "0000972471" "1" "90" "16" "2169188" "2169188" "subst" "0" "00006" "PKD1_002802" "g.2169188T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2119187T>C" "" "pathogenic (dominant)" "" "0000972472" "1" "90" "16" "2169114" "2169114" "subst" "0" "00006" "PKD1_002792" "g.2169114C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2119113C>T" "" "pathogenic (dominant)" "" "0000972473" "1" "90" "16" "2168814" "2168815" "del" "0" "00006" "PKD1_000701" "g.2168814_2168815del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2118813_2118814del" "" "pathogenic (dominant)" "" "0000972474" "0" "90" "16" "2168376" "2168376" "dup" "0" "00006" "PKD1_002773" "g.2168376dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118375dup" "" "pathogenic (dominant)" "" "0000972475" "1" "90" "16" "2168296" "2168336" "del" "0" "00006" "PKD1_002762" "g.2168296_2168336del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2118295_2118335del" "" "pathogenic (dominant)" "" "0000972476" "1" "90" "16" "2168287" "2168287" "subst" "0" "00006" "PKD1_002761" "g.2168287G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2118286G>A" "" "pathogenic (dominant)" "" "0000972477" "1" "90" "16" "2168269" "2168269" "dup" "0" "00006" "PKD1_002760" "g.2168269dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2118268dup" "" "pathogenic (dominant)" "" "0000972478" "1" "90" "16" "2168140" "2168146" "del" "0" "00006" "PKD1_000694" "g.2168140_2168146del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2118139_2118145del" "" "pathogenic (dominant)" "" "0000972479" "0" "90" "16" "2168140" "2168146" "del" "0" "00006" "PKD1_000694" "g.2168140_2168146del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118139_2118145del" "" "pathogenic (dominant)" "" "0000972480" "0" "90" "16" "2168140" "2168146" "del" "0" "00006" "PKD1_000694" "g.2168140_2168146del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118139_2118145del" "" "pathogenic (dominant)" "" "0000972481" "1" "90" "16" "2167882" "2167882" "subst" "0" "00006" "PKD1_002736" "g.2167882C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2117881C>A" "" "pathogenic (dominant)" "" "0000972482" "1" "90" "16" "2166924" "2166924" "subst" "0" "00006" "PKD1_002699" "g.2166924C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116923C>A" "" "pathogenic (dominant)" "" "0000972483" "1" "90" "16" "2166924" "2166924" "subst" "0" "00006" "PKD1_002699" "g.2166924C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116923C>A" "" "pathogenic (dominant)" "" "0000972484" "1" "90" "16" "2166916" "2166916" "subst" "0" "00006" "PKD1_002698" "g.2166916G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116915G>T" "" "pathogenic (dominant)" "" "0000972485" "1" "90" "16" "2166843" "2166843" "subst" "0" "00006" "PKD1_002686" "g.2166843G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2116842G>A" "" "pathogenic (dominant)" "" "0000972486" "1" "90" "16" "2166832" "2166832" "subst" "0" "00006" "PKD1_002684" "g.2166832A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116831A>G" "" "pathogenic (dominant)" "" "0000972487" "1" "90" "16" "2166582" "2166582" "del" "0" "00006" "PKD1_002677" "g.2166582del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116581del" "" "pathogenic (dominant)" "" "0000972488" "1" "90" "16" "2166582" "2166582" "del" "0" "00006" "PKD1_002677" "g.2166582del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116581del" "" "pathogenic (dominant)" "" "0000972489" "1" "90" "16" "2166582" "2166582" "del" "0" "00006" "PKD1_002677" "g.2166582del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116581del" "" "pathogenic (dominant)" "" "0000972490" "0" "90" "16" "2166582" "2166582" "del" "0" "00006" "PKD1_002677" "g.2166582del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2116581del" "" "pathogenic (dominant)" "" "0000972491" "1" "90" "16" "2166529" "2166529" "subst" "0" "00006" "PKD1_002672" "g.2166529C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116528C>T" "" "pathogenic (dominant)" "" "0000972492" "1" "90" "16" "2166121" "2166121" "subst" "0" "00006" "PKD1_002669" "g.2166121T>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116120T>G" "" "pathogenic (dominant)" "" "0000972493" "1" "90" "16" "2166070" "2166070" "del" "0" "00006" "PKD1_002663" "g.2166070del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116069del" "" "pathogenic (dominant)" "" "0000972494" "1" "90" "16" "2165546" "2165546" "subst" "0" "00006" "PKD1_002634" "g.2165546C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2115545C>A" "" "pathogenic (dominant)" "" "0000972495" "0" "90" "16" "2165438" "2165438" "del" "0" "00006" "PKD1_002624" "g.2165438del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2115437del" "" "pathogenic (dominant)" "" "0000972496" "1" "90" "16" "2165396" "2165396" "dup" "0" "00006" "PKD1_000138" "g.2165396dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2115395dup" "" "pathogenic (dominant)" "" "0000972497" "1" "90" "16" "2165387" "2165387" "subst" "0" "00006" "PKD1_002615" "g.2165387G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2115386G>A" "" "pathogenic (dominant)" "" "0000972498" "0" "90" "16" "2164872" "2164872" "subst" "0" "00006" "PKD1_002607" "g.2164872G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114871G>A" "" "pathogenic (dominant)" "" "0000972499" "0" "90" "16" "2164812" "2164819" "dup" "0" "00006" "PKD1_002602" "g.2164812_2164819dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114811_2114818dup" "" "pathogenic (dominant)" "" "0000972500" "1" "90" "16" "2164724" "2164734" "del" "0" "00006" "PKD1_000493" "g.2164724_2164734del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114723_2114733del" "" "pathogenic (dominant)" "" "0000972501" "1" "90" "16" "2164724" "2164734" "del" "0" "00006" "PKD1_000493" "g.2164724_2164734del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114723_2114733del" "" "pathogenic (dominant)" "" "0000972502" "1" "90" "16" "2164537" "2164537" "dup" "0" "00006" "PKD1_002579" "g.2164537dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114536dup" "" "pathogenic (dominant)" "" "0000972503" "1" "90" "16" "2164442" "2164442" "subst" "0" "00006" "PKD1_002569" "g.2164442C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114441C>T" "" "pathogenic (dominant)" "" "0000972504" "1" "90" "16" "2164408" "2164409" "ins" "0" "00006" "PKD1_002568" "g.2164408_2164409insN[20]" "" "{PMID:Audrezet 2012:22508176}" "" "2615_2616ins20" "" "Germline" "yes" "" "0" "" "" "g.2114407_2114408insN[20]" "" "pathogenic (dominant)" "" "0000972505" "1" "90" "16" "2164350" "2164350" "dup" "0" "00006" "PKD1_002561" "g.2164350dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114349dup" "" "pathogenic (dominant)" "" "0000972506" "1" "90" "16" "2164339" "2164340" "del" "0" "00006" "PKD1_002560" "g.2164339_2164340del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114338_2114339del" "" "pathogenic (dominant)" "" "0000972507" "1" "90" "16" "2164326" "2164326" "dup" "0" "00006" "PKD1_002559" "g.2164326dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114325dup" "" "pathogenic (dominant)" "" "0000972508" "1" "90" "16" "2164192" "2164193" "del" "0" "00006" "PKD1_002547" "g.2164192_2164193del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114191_2114192del" "" "pathogenic (dominant)" "" "0000972509" "0" "90" "16" "2164185" "2164185" "subst" "0" "00006" "PKD1_002546" "g.2164185G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114184G>A" "" "pathogenic (dominant)" "" "0000972510" "1" "90" "16" "2164184" "2164184" "dup" "0" "00006" "PKD1_002545" "g.2164184dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114183dup" "" "pathogenic (dominant)" "" "0000972511" "1" "90" "16" "2163294" "2163294" "subst" "0" "00006" "PKD1_002535" "g.2163294C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113293C>T" "" "pathogenic (dominant)" "" "0000972512" "1" "90" "16" "2163294" "2163294" "subst" "0" "00006" "PKD1_002535" "g.2163294C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113293C>T" "" "pathogenic (dominant)" "" "0000972513" "1" "90" "16" "2163295" "2163295" "subst" "0" "00006" "PKD1_002537" "g.2163295T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113294T>C" "" "pathogenic (dominant)" "" "0000972514" "1" "90" "16" "2163288" "2163288" "subst" "0" "00006" "PKD1_002533" "g.2163288G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113287G>C" "" "pathogenic (dominant)" "" "0000972515" "1" "90" "16" "2163285" "2163285" "del" "0" "00006" "PKD1_002532" "g.2163285del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113284del" "" "pathogenic (dominant)" "" "0000972516" "1" "90" "16" "2163189" "2163189" "subst" "0" "00006" "PKD1_002526" "g.2163189A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2113188A>C" "" "pathogenic (dominant)" "" "0000972517" "0" "90" "16" "2163186" "2163187" "del" "0" "00006" "PKD1_002524" "g.2163186_2163187del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2113185_2113186del" "" "pathogenic (dominant)" "" "0000972518" "1" "90" "16" "2163178" "2163179" "delins" "0" "00006" "PKD1_002522" "g.2163178_2163179delinsA" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113177_2113178delinsA" "" "pathogenic (dominant)" "" "0000972519" "1" "90" "16" "2163178" "2163179" "dup" "0" "00006" "PKD1_002520" "g.2163178_2163179dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113177_2113178dup" "" "pathogenic (dominant)" "" "0000972520" "1" "90" "16" "2163161" "2163161" "subst" "0" "00006" "PKD1_002518" "g.2163161C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2113160C>T" "" "pathogenic (dominant)" "" "0000972521" "1" "90" "16" "2163160" "2163160" "subst" "0" "00006" "PKD1_002517" "g.2163160A>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2113159A>T" "" "pathogenic (dominant)" "" "0000972522" "1" "90" "16" "2162892" "2162892" "subst" "0" "00006" "PKD1_000257" "g.2162892G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2112891G>A" "" "pathogenic (dominant)" "" "0000972523" "1" "90" "16" "2162892" "2162892" "subst" "0" "00006" "PKD1_000257" "g.2162892G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2112891G>A" "" "pathogenic (dominant)" "" "0000972524" "1" "90" "16" "2162452" "2162452" "subst" "0" "00006" "PKD1_002489" "g.2162452G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2112451G>A" "" "pathogenic (dominant)" "" "0000972525" "1" "90" "16" "2162393" "2162426" "del" "0" "00006" "PKD1_002480" "g.2162393_2162426del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2112392_2112425del" "" "pathogenic (dominant)" "" "0000972526" "1" "90" "16" "2162423" "2162423" "subst" "0" "00006" "PKD1_002484" "g.2162423G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2112422G>C" "" "pathogenic (dominant)" "" "0000972527" "1" "90" "16" "2162423" "2162423" "subst" "0" "00006" "PKD1_002484" "g.2162423G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2112422G>C" "" "pathogenic (dominant)" "" "0000972528" "0" "90" "16" "2161845" "2161854" "del" "0" "00006" "PKD1_002466" "g.2161845_2161854del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111844_2111853del" "" "pathogenic (dominant)" "" "0000972529" "1" "90" "16" "2161811" "2161812" "ins" "0" "00006" "PKD1_002464" "g.2161811_2161812insT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111810_2111811insT" "" "pathogenic (dominant)" "" "0000972530" "1" "90" "16" "2161748" "2161751" "del" "0" "00006" "PKD1_002460" "g.2161748_2161751del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111747_2111750del" "" "pathogenic (dominant)" "" "0000972531" "1" "90" "16" "2161727" "2161727" "subst" "0" "00006" "PKD1_002457" "g.2161727G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2111726G>C" "" "pathogenic (dominant)" "" "0000972532" "0" "90" "16" "2161691" "2161691" "subst" "0" "00006" "PKD1_002454" "g.2161691G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111690G>C" "" "pathogenic (dominant)" "" "0000972533" "0" "90" "16" "2161678" "2161678" "del" "0" "00006" "PKD1_002451" "g.2161678del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111677del" "" "pathogenic (dominant)" "" "0000972534" "1" "90" "16" "2161632" "2161633" "dup" "0" "00006" "PKD1_002448" "g.2161632_2161633dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111631_2111632dup" "" "pathogenic (dominant)" "" "0000972535" "1" "90" "16" "2161609" "2161635" "del" "0" "00006" "PKD1_002444" "g.2161609_2161635del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2111608_2111634del" "" "pathogenic (dominant)" "" "0000972536" "0" "90" "16" "2161523" "2161544" "delins" "0" "00006" "PKD1_002435" "g.2161523_2161544delinsA" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111522_2111543delinsA" "" "pathogenic (dominant)" "" "0000972537" "1" "90" "16" "2161528" "2161528" "subst" "0" "00006" "PKD1_002437" "g.2161528C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111527C>A" "" "pathogenic (dominant)" "" "0000972538" "1" "90" "16" "2161439" "2161439" "subst" "0" "00006" "PKD1_002429" "g.2161439C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2111438C>T" "" "pathogenic (dominant)" "" "0000972539" "0" "90" "16" "2161261" "2161262" "del" "0" "00006" "PKD1_002416" "g.2161261_2161262del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111260_2111261del" "" "pathogenic (dominant)" "" "0000972540" "1" "90" "16" "2161202" "2161229" "del" "0" "00006" "PKD1_002409" "g.2161202_2161229del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2111201_2111228del" "" "pathogenic (dominant)" "" "0000972541" "1" "90" "16" "2161098" "2161098" "del" "0" "00006" "PKD1_000383" "g.2161098del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111097del" "" "pathogenic (dominant)" "" "0000972542" "0" "90" "16" "2161098" "2161098" "del" "0" "00006" "PKD1_000383" "g.2161098del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111097del" "" "pathogenic (dominant)" "" "0000972543" "1" "90" "16" "2161033" "2161033" "subst" "0" "00006" "PKD1_002385" "g.2161033C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111032C>A" "" "pathogenic (dominant)" "" "0000972544" "1" "90" "16" "2160971" "2160974" "del" "0" "00006" "PKD1_002379" "g.2160971_2160974del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110970_2110973del" "" "pathogenic (dominant)" "" "0000972545" "1" "90" "16" "2160921" "2160922" "del" "0" "00006" "PKD1_002374" "g.2160921_2160922del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110920_2110921del" "" "pathogenic (dominant)" "" "0000972546" "1" "90" "16" "2160895" "2160913" "delins" "0" "00006" "PKD1_002372" "g.2160895_2160913delinsCTCA" "" "{PMID:Audrezet 2012:22508176}" "" "4255_4274delinsTGAGG" "" "Germline" "" "" "0" "" "" "g.2110894_2110912delinsCTCA" "" "pathogenic (dominant)" "" "0000972547" "1" "90" "16" "2160874" "2160875" "ins" "0" "00006" "PKD1_002371" "g.2160874_2160875insGACGT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110873_2110874insGACGT" "" "pathogenic (dominant)" "" "0000972548" "1" "90" "16" "2160874" "2160875" "ins" "0" "00006" "PKD1_002371" "g.2160874_2160875insGACGT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110873_2110874insGACGT" "" "pathogenic (dominant)" "" "0000972549" "1" "90" "16" "2160862" "2160862" "subst" "0" "00006" "PKD1_000301" "g.2160862G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110861G>A" "" "pathogenic (dominant)" "" "0000972550" "0" "90" "16" "2160837" "2160838" "del" "0" "00006" "PKD1_002369" "g.2160837_2160838del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110836_2110837del" "" "pathogenic (dominant)" "" "0000972551" "1" "90" "16" "2160781" "2160781" "subst" "0" "00006" "PKD1_002364" "g.2160781G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110780G>A" "" "pathogenic (dominant)" "" "0000972552" "1" "90" "16" "2160726" "2160726" "dup" "0" "00006" "PKD1_002361" "g.2160726dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110725dup" "" "pathogenic (dominant)" "" "0000972553" "1" "90" "16" "2160724" "2160724" "subst" "0" "00006" "PKD1_002360" "g.2160724G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110723G>A" "" "pathogenic (dominant)" "" "0000972554" "0" "90" "16" "2160724" "2160724" "subst" "0" "00006" "PKD1_002360" "g.2160724G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110723G>A" "" "pathogenic (dominant)" "" "0000972555" "1" "90" "16" "2160721" "2160721" "subst" "0" "00006" "PKD1_000484" "g.2160721G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110720G>A" "" "pathogenic (dominant)" "" "0000972556" "0" "90" "16" "2160707" "2160708" "ins" "0" "00006" "PKD1_002358" "g.2160707_2160708insT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110706_2110707insT" "" "pathogenic (dominant)" "" "0000972557" "1" "90" "16" "2160617" "2160617" "subst" "0" "00006" "PKD1_002349" "g.2160617G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110616G>C" "" "pathogenic (dominant)" "" "0000972558" "1" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000972559" "1" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000972560" "1" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000972561" "1" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000972562" "0" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000972563" "1" "90" "16" "2160551" "2160551" "subst" "0" "00006" "PKD1_002345" "g.2160551C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110550C>T" "" "pathogenic (dominant)" "" "0000972564" "0" "90" "16" "2160371" "2160371" "subst" "0" "00006" "PKD1_002336" "g.2160371G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "De novo" "" "" "0" "" "" "g.2110370G>C" "" "pathogenic (dominant)" "" "0000972565" "1" "90" "16" "2160288" "2160289" "del" "0" "00006" "PKD1_002322" "g.2160288_2160289del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110287_2110288del" "" "pathogenic (dominant)" "" "0000972566" "1" "90" "16" "2160273" "2160274" "del" "0" "00006" "PKD1_000180" "g.2160273_2160274del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110272_2110273del" "" "pathogenic (dominant)" "" "0000972567" "1" "90" "16" "2160262" "2160262" "subst" "0" "00006" "PKD1_000203" "g.2160262G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110261G>A" "" "pathogenic (dominant)" "" "0000972568" "1" "90" "16" "2160262" "2160262" "subst" "0" "00006" "PKD1_000203" "g.2160262G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110261G>A" "" "pathogenic (dominant)" "" "0000972569" "1" "90" "16" "2160236" "2160236" "del" "0" "00006" "PKD1_002317" "g.2160236del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110235del" "" "pathogenic (dominant)" "" "0000972570" "1" "90" "16" "2160217" "2160217" "subst" "0" "00006" "PKD1_002313" "g.2160217G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110216G>A" "" "pathogenic (dominant)" "" "0000972571" "1" "90" "16" "2160211" "2160211" "subst" "0" "00006" "PKD1_000103" "g.2160211G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110210G>A" "" "pathogenic (dominant)" "" "0000972572" "1" "90" "16" "2160211" "2160211" "subst" "0" "00006" "PKD1_000103" "g.2160211G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110210G>A" "" "pathogenic (dominant)" "" "0000972573" "0" "90" "16" "2160163" "2160196" "dup" "0" "00006" "PKD1_002312" "g.2160163_2160196dup" "" "{PMID:Audrezet 2012:22508176}" "" "Trp1669TyrfsX12" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110162_2110195dup" "" "pathogenic (dominant)" "" "0000972574" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972575" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972576" "0" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972577" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972578" "0" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972579" "0" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972580" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972581" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972582" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972583" "1" "90" "16" "2160153" "2160154" "del" "0" "00006" "PKD1_000059" "g.2160153_2160154del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2110152_2110153del" "" "pathogenic (dominant)" "" "0000972584" "1" "90" "16" "2160067" "2160090" "del" "0" "00006" "PKD1_002302" "g.2160067_2160090del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110066_2110089del" "" "pathogenic (dominant)" "" "0000972585" "0" "90" "16" "2160082" "2160082" "subst" "0" "00006" "PKD1_000378" "g.2160082G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2110081G>A" "" "pathogenic (dominant)" "" "0000972586" "1" "90" "16" "2160048" "2160048" "subst" "0" "00006" "PKD1_000377" "g.2160048C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110047C>T" "" "pathogenic (dominant)" "" "0000972587" "1" "90" "16" "2160048" "2160048" "subst" "0" "00006" "PKD1_000377" "g.2160048C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110047C>T" "" "pathogenic (dominant)" "" "0000972588" "0" "90" "16" "2159984" "2159984" "del" "0" "00006" "PKD1_002294" "g.2159984del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109983del" "" "pathogenic (dominant)" "" "0000972589" "1" "90" "16" "2159984" "2159984" "del" "0" "00006" "PKD1_002294" "g.2159984del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109983del" "" "pathogenic (dominant)" "" "0000972590" "1" "90" "16" "2159915" "2159930" "del" "0" "00006" "PKD1_002289" "g.2159915_2159930del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109914_2109929del" "" "pathogenic (dominant)" "" "0000972591" "0" "90" "16" "2159878" "2159878" "subst" "0" "00006" "PKD1_002286" "g.2159878C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109877C>A" "" "pathogenic (dominant)" "" "0000972592" "0" "90" "16" "2159690" "2159691" "dup" "0" "00006" "PKD1_002267" "g.2159690_2159691dup" "" "{PMID:Audrezet 2012:22508176}" "" "5479_5480dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109689_2109690dup" "" "pathogenic (dominant)" "" "0000972593" "1" "90" "16" "2159686" "2159686" "subst" "0" "00006" "PKD1_000201" "g.2159686G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109685G>A" "" "pathogenic (dominant)" "" "0000972594" "0" "90" "16" "2159653" "2159653" "del" "0" "00006" "PKD1_002262" "g.2159653del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109652del" "" "pathogenic (dominant)" "" "0000972595" "1" "90" "16" "2159608" "2159608" "dup" "0" "00006" "PKD1_002258" "g.2159608dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109607dup" "" "pathogenic (dominant)" "" "0000972596" "0" "90" "16" "2159602" "2159602" "dup" "0" "00006" "PKD1_002257" "g.2159602dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109601dup" "" "pathogenic (dominant)" "" "0000972597" "0" "90" "16" "2159539" "2159540" "delins" "0" "00006" "PKD1_002250" "g.2159539_2159540delinsG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109538_2109539delinsG" "" "pathogenic (dominant)" "" "0000972598" "1" "90" "16" "2159411" "2159411" "del" "0" "00006" "PKD1_002242" "g.2159411del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109410del" "" "pathogenic (dominant)" "" "0000972599" "1" "90" "16" "2159348" "2159348" "dup" "0" "00006" "PKD1_002237" "g.2159348dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109347dup" "" "pathogenic (dominant)" "" "0000972600" "0" "90" "16" "2159311" "2159311" "dup" "0" "00006" "PKD1_002231" "g.2159311dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109310dup" "" "pathogenic (dominant)" "" "0000972601" "1" "90" "16" "2159270" "2159270" "del" "0" "00006" "PKD1_002229" "g.2159270del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109269del" "" "pathogenic (dominant)" "" "0000972602" "1" "90" "16" "2159256" "2159257" "del" "0" "00006" "PKD1_002226" "g.2159256_2159257del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109255_2109256del" "" "pathogenic (dominant)" "" "0000972603" "1" "90" "16" "2159202" "2159203" "del" "0" "00006" "PKD1_000645" "g.2159202_2159203del" "" "{PMID:Audrezet 2012:22508176}" "" "5967_5968del" "" "Germline" "yes" "" "0" "" "" "g.2109201_2109202del" "" "pathogenic (dominant)" "" "0000972604" "1" "90" "16" "2159152" "2159199" "del" "0" "00006" "PKD1_002215" "g.2159152_2159199del" "" "{PMID:Audrezet 2012:22508176}" "" "5969_6016del" "" "Germline" "" "" "0" "" "" "g.2109151_2109198del" "" "pathogenic (dominant)" "" "0000972605" "0" "90" "16" "2159148" "2159171" "del" "0" "00006" "PKD1_002212" "g.2159148_2159171del" "" "{PMID:Audrezet 2012:22508176}" "" "5997_6020del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109147_2109170del" "" "pathogenic (dominant)" "" "0000972606" "1" "90" "16" "2159137" "2159137" "subst" "0" "00006" "PKD1_002210" "g.2159137G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109136G>A" "" "pathogenic (dominant)" "" "0000972607" "1" "90" "16" "2159128" "2159128" "subst" "0" "00006" "PKD1_000212" "g.2159128G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109127G>A" "" "pathogenic (dominant)" "" "0000972608" "1" "90" "16" "2159080" "2159080" "del" "0" "00006" "PKD1_002206" "g.2159080del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109079del" "" "pathogenic (dominant)" "" "0000972609" "1" "90" "16" "2159080" "2159080" "del" "0" "00006" "PKD1_002206" "g.2159080del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109079del" "" "pathogenic (dominant)" "" "0000972610" "1" "90" "16" "2159053" "2159053" "subst" "0" "00006" "PKD1_000100" "g.2159053G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2109052G>A" "" "pathogenic (dominant)" "" "0000972611" "1" "90" "16" "2158961" "2158962" "delins" "0" "00006" "PKD1_002194" "g.2158961_2158962delinsT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108960_2108961delinsT" "" "pathogenic (dominant)" "" "0000972612" "1" "90" "16" "2158861" "2158861" "subst" "0" "00006" "PKD1_000638" "g.2158861G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108860G>A" "" "pathogenic (dominant)" "" "0000972613" "1" "90" "16" "2158692" "2158693" "ins" "0" "00006" "PKD1_002172" "g.2158692_2158693insGGGG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108691_2108692insGGGG" "" "pathogenic (dominant)" "" "0000972614" "1" "90" "16" "2158681" "2158681" "subst" "0" "00006" "PKD1_000129" "g.2158681G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108680G>A" "" "pathogenic (dominant)" "" "0000972615" "0" "90" "16" "2158681" "2158681" "subst" "0" "00006" "PKD1_000129" "g.2158681G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108680G>A" "" "pathogenic (dominant)" "" "0000972616" "1" "90" "16" "2158681" "2158681" "subst" "0" "00006" "PKD1_000129" "g.2158681G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108680G>A" "" "pathogenic (dominant)" "" "0000972617" "0" "90" "16" "2158677" "2158677" "subst" "0" "00006" "PKD1_000197" "g.2158677G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108676G>C" "" "pathogenic (dominant)" "" "0000972618" "1" "90" "16" "2158640" "2158650" "del" "0" "00006" "PKD1_002168" "g.2158640_2158650del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108639_2108649del" "" "pathogenic (dominant)" "" "0000972619" "1" "90" "16" "2158625" "2158625" "subst" "0" "00006" "PKD1_002166" "g.2158625G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108624G>C" "" "pathogenic (dominant)" "" "0000972620" "1" "90" "16" "2158608" "2158608" "subst" "0" "00006" "PKD1_002164" "g.2158608C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108607C>T" "" "pathogenic (dominant)" "" "0000972621" "1" "90" "16" "2158598" "2158598" "subst" "0" "00006" "PKD1_002163" "g.2158598A>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108597A>T" "" "pathogenic (dominant)" "" "0000972622" "1" "90" "16" "2158588" "2158594" "del" "0" "00006" "PKD1_000035" "g.2158588_2158594del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108587_2108593del" "" "pathogenic (dominant)" "" "0000972623" "1" "90" "16" "2158585" "2158591" "del" "0" "00006" "PKD1_002159" "g.2158585_2158591del" "" "{PMID:Audrezet 2012:22508176}" "" "6577_6583del" "" "Germline" "yes" "" "0" "" "" "g.2108584_2108590del" "" "pathogenic (dominant)" "" "0000972624" "1" "90" "16" "2158585" "2158591" "del" "0" "00006" "PKD1_002159" "g.2158585_2158591del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108584_2108590del" "" "pathogenic (dominant)" "" "0000972625" "1" "90" "16" "2158546" "2158564" "dup" "0" "00006" "PKD1_002154" "g.2158546_2158564dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108545_2108563dup" "" "pathogenic (dominant)" "" "0000972626" "1" "90" "16" "2158443" "2158444" "del" "0" "00006" "PKD1_000125" "g.2158443_2158444del" "" "{PMID:Audrezet 2012:22508176}" "" "6726_6727del" "" "Germline" "yes" "" "0" "" "" "g.2108442_2108443del" "" "pathogenic (dominant)" "" "0000972627" "1" "90" "16" "2158439" "2158442" "del" "0" "00006" "PKD1_002141" "g.2158439_2158442del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108438_2108441del" "" "pathogenic (dominant)" "" "0000972628" "1" "90" "16" "2158439" "2158440" "del" "0" "00006" "PKD1_002140" "g.2158439_2158440del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108438_2108439del" "" "pathogenic (dominant)" "" "0000972629" "1" "90" "16" "2158439" "2158440" "del" "0" "00006" "PKD1_002140" "g.2158439_2158440del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108438_2108439del" "" "pathogenic (dominant)" "" "0000972630" "1" "90" "16" "2158365" "2158369" "dup" "0" "00006" "PKD1_002131" "g.2158365_2158369dup" "" "{PMID:Audrezet 2012:22508176}" "" "6799_6803dup" "" "Germline" "" "" "0" "" "" "g.2108364_2108368dup" "" "pathogenic (dominant)" "" "0000972631" "1" "90" "16" "2158359" "2158362" "del" "0" "00006" "PKD1_002130" "g.2158359_2158362del" "" "{PMID:Audrezet 2012:22508176}" "" "6806_6809del" "" "Germline" "" "" "0" "" "" "g.2108358_2108361del" "" "pathogenic (dominant)" "" "0000972632" "1" "90" "16" "2158275" "2158275" "subst" "4.16372E-6" "00006" "PKD1_002121" "g.2158275C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108274C>T" "" "pathogenic (dominant)" "" "0000972633" "1" "90" "16" "2158251" "2158251" "subst" "0" "00006" "PKD1_002116" "g.2158251A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108250A>C" "" "pathogenic (dominant)" "" "0000972634" "1" "90" "16" "2157959" "2157965" "del" "0" "00006" "PKD1_000099" "g.2157959_2157965del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2107958_2107964del" "" "pathogenic (dominant)" "" "0000972635" "1" "90" "16" "2157959" "2157965" "del" "0" "00006" "PKD1_000099" "g.2157959_2157965del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2107958_2107964del" "" "pathogenic (dominant)" "" "0000972636" "1" "90" "16" "2157947" "2157953" "del" "0" "00006" "PKD1_002100" "g.2157947_2157953del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2107946_2107952del" "" "pathogenic (dominant)" "" "0000972637" "1" "90" "16" "2157941" "2157941" "subst" "0" "00006" "PKD1_000076" "g.2157941G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2107940G>T" "" "pathogenic (dominant)" "" "0000972638" "1" "90" "16" "2157904" "2157904" "subst" "0" "00006" "PKD1_002096" "g.2157904C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2107903C>A" "" "pathogenic (dominant)" "" "0000972639" "0" "90" "16" "2157889" "2157889" "subst" "0" "00006" "PKD1_002095" "g.2157889G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2107888G>A" "" "pathogenic (dominant)" "" "0000972640" "1" "90" "16" "2156951" "2156951" "subst" "0" "00006" "PKD1_002086" "g.2156951T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106950T>C" "" "pathogenic (dominant)" "" "0000972641" "1" "90" "16" "2156878" "2156878" "subst" "0" "00006" "PKD1_002073" "g.2156878G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106877G>C" "" "pathogenic (dominant)" "" "0000972642" "0" "90" "16" "2156857" "2156857" "subst" "0" "00006" "PKD1_002069" "g.2156857G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106856G>C" "" "pathogenic (dominant)" "" "0000972643" "0" "90" "16" "2156811" "2156811" "subst" "0" "00006" "PKD1_000098" "g.2156811G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106810G>A" "" "pathogenic (dominant)" "" "0000972644" "0" "90" "16" "2156811" "2156811" "subst" "0" "00006" "PKD1_000098" "g.2156811G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106810G>A" "" "pathogenic (dominant)" "" "0000972645" "0" "90" "16" "2156673" "2156673" "subst" "0" "00006" "PKD1_002059" "g.2156673C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106672C>T" "" "pathogenic (dominant)" "" "0000972646" "1" "90" "16" "2156638" "2156638" "del" "0" "00006" "PKD1_002055" "g.2156638del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106637del" "" "pathogenic (dominant)" "" "0000972647" "1" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000972648" "1" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000972649" "1" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000972650" "0" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000972651" "0" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000972652" "1" "90" "16" "2156600" "2156600" "subst" "0" "00006" "PKD1_000096" "g.2156600G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106599G>A" "" "pathogenic (dominant)" "" "0000972653" "1" "90" "16" "2156580" "2156594" "del" "0" "00006" "PKD1_000353" "g.2156580_2156594del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106579_2106593del" "" "pathogenic (dominant)" "" "0000972654" "0" "90" "16" "2156472" "2156472" "del" "0" "00006" "PKD1_002032" "g.2156472del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106471del" "" "pathogenic (dominant)" "" "0000972655" "1" "90" "16" "2156307" "2156307" "subst" "0" "00006" "PKD1_002019" "g.2156307T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106306T>C" "" "pathogenic (dominant)" "" "0000972656" "1" "90" "16" "2156307" "2156307" "subst" "0" "00006" "PKD1_002019" "g.2156307T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106306T>C" "" "pathogenic (dominant)" "" "0000972657" "1" "90" "16" "2156240" "2156240" "subst" "0" "00006" "PKD1_002005" "g.2156240G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106239G>A" "" "pathogenic (dominant)" "" "0000972658" "1" "90" "16" "2156211" "2156211" "subst" "0" "00006" "PKD1_002001" "g.2156211G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106210G>C" "" "pathogenic (dominant)" "" "0000972659" "1" "90" "16" "2156098" "2156193" "del" "0" "00006" "PKD1_001990" "g.2156098_2156193del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106097_2106192del" "" "pathogenic (dominant)" "" "0000972660" "0" "90" "16" "2156177" "2156177" "dup" "0" "00006" "PKD1_001997" "g.2156177dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "De novo" "" "" "0" "" "" "g.2106176dup" "" "pathogenic (dominant)" "" "0000972661" "1" "90" "16" "2156140" "2156140" "del" "0" "00006" "PKD1_001994" "g.2156140del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106139del" "" "pathogenic (dominant)" "" "0000972662" "1" "90" "16" "2156124" "2156124" "dup" "0" "00006" "PKD1_001992" "g.2156124dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106123dup" "" "pathogenic (dominant)" "" "0000972663" "1" "90" "16" "2156091" "2156091" "subst" "0" "00006" "PKD1_001988" "g.2156091C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106090C>T" "" "pathogenic (dominant)" "" "0000972664" "1" "90" "16" "2155994" "2156001" "del" "0" "00006" "PKD1_001981" "g.2155994_2156001del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2105993_2106000del" "" "pathogenic (dominant)" "" "0000972665" "1" "90" "16" "2155979" "2155979" "del" "0" "00006" "PKD1_001977" "g.2155979del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2105978del" "" "pathogenic (dominant)" "" "0000972666" "1" "90" "16" "2155925" "2155925" "subst" "0" "00006" "PKD1_001972" "g.2155925G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2105924G>A" "" "pathogenic (dominant)" "" "0000972667" "1" "90" "16" "2155906" "2155910" "del" "0" "00006" "PKD1_000075" "g.2155906_2155910del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2105905_2105909del" "" "pathogenic (dominant)" "" "0000972668" "1" "90" "16" "2155896" "2155896" "subst" "4.37449E-6" "00006" "PKD1_001967" "g.2155896G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2105895G>C" "" "pathogenic (dominant)" "" "0000972669" "1" "90" "16" "2155865" "2155865" "subst" "0" "00006" "PKD1_000601" "g.2155865C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2105864C>A" "" "pathogenic (dominant)" "" "0000972670" "0" "90" "16" "2155476" "2155476" "subst" "0" "00006" "PKD1_001951" "g.2155476C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2105475C>A" "" "pathogenic (dominant)" "" "0000972671" "1" "90" "16" "2155473" "2155473" "subst" "0" "00006" "PKD1_001950" "g.2155473G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2105472G>T" "" "pathogenic (dominant)" "" "0000972672" "0" "90" "16" "2155424" "2155424" "subst" "0" "00006" "PKD1_000074" "g.2155424G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2105423G>A" "" "pathogenic (dominant)" "" "0000972673" "1" "90" "16" "2155424" "2155424" "subst" "0" "00006" "PKD1_000074" "g.2155424G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2105423G>A" "" "pathogenic (dominant)" "" "0000972674" "1" "90" "16" "2155363" "2155363" "dup" "0" "00006" "PKD1_001939" "g.2155363dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2105362dup" "" "pathogenic (dominant)" "" "0000972675" "0" "90" "16" "2155352" "2155352" "subst" "0" "00006" "PKD1_001935" "g.2155352G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "De novo" "" "" "0" "" "" "g.2105351G>A" "" "pathogenic (dominant)" "" "0000972676" "0" "90" "16" "2155331" "2155331" "subst" "0" "00006" "PKD1_001933" "g.2155331G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2105330G>A" "" "pathogenic (dominant)" "" "0000972677" "1" "90" "16" "2154644" "2154644" "subst" "0" "00006" "PKD1_001923" "g.2154644C>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2104643C>G" "" "pathogenic (dominant)" "" "0000972678" "1" "90" "16" "2154644" "2154645" "del" "0" "00006" "PKD1_000120" "g.2154644_2154645del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2104643_2104644del" "" "pathogenic (dominant)" "" "0000972679" "1" "90" "16" "2154645" "2154645" "subst" "0" "00006" "PKD1_001924" "g.2154645T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2104644T>C" "" "pathogenic (dominant)" "" "0000972680" "1" "90" "16" "2154590" "2154590" "del" "0" "00006" "PKD1_001916" "g.2154590del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2104589del" "" "pathogenic (dominant)" "" "0000972681" "1" "90" "16" "2153861" "2153897" "dup" "0" "00006" "PKD1_001895" "g.2153861_2153897dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103860_2103896dup" "" "pathogenic (dominant)" "" "0000972682" "0" "90" "16" "2153855" "2153855" "subst" "0" "00006" "PKD1_001894" "g.2153855G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103854G>A" "" "pathogenic (dominant)" "" "0000972683" "1" "90" "16" "2153798" "2153801" "del" "0" "00006" "PKD1_001888" "g.2153798_2153801del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103797_2103800del" "" "pathogenic (dominant)" "" "0000972684" "1" "90" "16" "2153747" "2153750" "delins" "0" "00006" "PKD1_001877" "g.2153747_2153750delinsAACGAG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103746_2103749delinsAACGAG" "" "pathogenic (dominant)" "" "0000972685" "1" "90" "16" "2153747" "2153750" "delins" "0" "00006" "PKD1_001877" "g.2153747_2153750delinsAACGAG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103746_2103749delinsAACGAG" "" "pathogenic (dominant)" "" "0000972686" "1" "90" "16" "2153747" "2153750" "delins" "0" "00006" "PKD1_001877" "g.2153747_2153750delinsAACGAG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103746_2103749delinsAACGAG" "" "pathogenic (dominant)" "" "0000972687" "1" "90" "16" "2153747" "2153750" "delins" "0" "00006" "PKD1_001877" "g.2153747_2153750delinsAACGAG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103746_2103749delinsAACGAG" "" "pathogenic (dominant)" "" "0000972688" "1" "90" "16" "2153747" "2153750" "delins" "0" "00006" "PKD1_001877" "g.2153747_2153750delinsAACGAG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103746_2103749delinsAACGAG" "" "pathogenic (dominant)" "" "0000972689" "1" "90" "16" "2153737" "2153738" "del" "0" "00006" "PKD1_001876" "g.2153737_2153738del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103736_2103737del" "" "pathogenic (dominant)" "" "0000972690" "1" "90" "16" "2153737" "2153738" "del" "0" "00006" "PKD1_001876" "g.2153737_2153738del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103736_2103737del" "" "pathogenic (dominant)" "" "0000972691" "1" "90" "16" "2153708" "2153708" "subst" "0" "00006" "PKD1_001870" "g.2153708G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103707G>A" "" "pathogenic (dominant)" "" "0000972692" "1" "90" "16" "2153498" "2153498" "subst" "0" "00006" "PKD1_001846" "g.2153498G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103497G>A" "" "pathogenic (dominant)" "" "0000972693" "1" "90" "16" "2153498" "2153498" "subst" "0" "00006" "PKD1_001846" "g.2153498G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103497G>A" "" "pathogenic (dominant)" "" "0000972694" "1" "90" "16" "2153475" "2153475" "del" "0" "00006" "PKD1_001843" "g.2153475del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103474del" "" "pathogenic (dominant)" "" "0000972695" "1" "90" "16" "2153455" "2153455" "subst" "0" "00006" "PKD1_001840" "g.2153455G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103454G>T" "" "pathogenic (dominant)" "" "0000972696" "1" "90" "16" "2153380" "2153380" "del" "0" "00006" "PKD1_001826" "g.2153380del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103379del" "" "pathogenic (dominant)" "" "0000972697" "1" "90" "16" "2153360" "2153360" "subst" "0" "00006" "PKD1_000034" "g.2153360G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103359G>A" "" "pathogenic (dominant)" "" "0000972698" "0" "90" "16" "2152964" "2152964" "subst" "0" "00006" "PKD1_001803" "g.2152964G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102963G>C" "" "pathogenic (dominant)" "" "0000972699" "1" "90" "16" "2152858" "2152858" "subst" "0" "00006" "PKD1_000209" "g.2152858G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102857G>A" "" "pathogenic (dominant)" "" "0000972700" "1" "90" "16" "2152611" "2152611" "dup" "0" "00006" "PKD1_001766" "g.2152611dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102610dup" "" "pathogenic (dominant)" "" "0000972701" "1" "90" "16" "2152581" "2152581" "subst" "0" "00006" "PKD1_000155" "g.2152581C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2102580C>T" "" "pathogenic (dominant)" "" "0000972702" "0" "90" "16" "2152548" "2152565" "dup" "0" "00006" "PKD1_001755" "g.2152548_2152565dup" "" "{PMID:Audrezet 2012:22508176}" "" "9018_9035dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102547_2102564dup" "" "pathogenic (dominant)" "" "0000972703" "1" "90" "16" "2152456" "2152456" "del" "0" "00006" "PKD1_001744" "g.2152456del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102455del" "" "pathogenic (dominant)" "" "0000972704" "0" "90" "16" "2152381" "2152381" "subst" "0" "00006" "PKD1_001734" "g.2152381C>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102380C>G" "" "pathogenic (dominant)" "" "0000972705" "1" "90" "16" "2152381" "2152381" "subst" "0" "00006" "PKD1_001735" "g.2152381C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2102380C>A" "" "pathogenic (dominant)" "" "0000972706" "1" "90" "16" "2152259" "2152259" "subst" "0" "00006" "PKD1_001731" "g.2152259T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102258T>C" "" "pathogenic (dominant)" "" "0000972707" "1" "90" "16" "2152246" "2152246" "del" "0" "00006" "PKD1_001725" "g.2152246del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2102245del" "" "pathogenic (dominant)" "" "0000972708" "1" "90" "16" "2152218" "2152219" "del" "0" "00006" "PKD1_000247" "g.2152218_2152219del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102217_2102218del" "" "pathogenic (dominant)" "" "0000972709" "1" "90" "16" "2152218" "2152219" "del" "0" "00006" "PKD1_000247" "g.2152218_2152219del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102217_2102218del" "" "pathogenic (dominant)" "" "0000972710" "0" "90" "16" "2152166" "2152176" "del" "0" "00006" "PKD1_001717" "g.2152166_2152176del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102165_2102175del" "" "pathogenic (dominant)" "" "0000972711" "1" "90" "16" "2152145" "2152145" "dup" "0" "00006" "PKD1_001716" "g.2152145dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102144dup" "" "pathogenic (dominant)" "" "0000972712" "1" "90" "16" "2150418" "2150418" "subst" "0" "00006" "PKD1_001687" "g.2150418G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100417G>A" "" "pathogenic (dominant)" "" "0000972713" "1" "90" "16" "2150418" "2150418" "subst" "0" "00006" "PKD1_001687" "g.2150418G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2100417G>A" "" "pathogenic (dominant)" "" "0000972714" "1" "90" "16" "2150419" "2150419" "del" "0" "00006" "PKD1_001686" "g.2150419del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2100418del" "" "pathogenic (dominant)" "" "0000972715" "1" "90" "16" "2150410" "2150410" "subst" "0" "00006" "PKD1_001684" "g.2150410C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100409C>T" "" "pathogenic (dominant)" "" "0000972716" "0" "90" "16" "2150410" "2150410" "subst" "0" "00006" "PKD1_001684" "g.2150410C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100409C>T" "" "pathogenic (dominant)" "" "0000972717" "0" "90" "16" "2150287" "2150287" "subst" "0" "00006" "PKD1_001672" "g.2150287G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100286G>A" "" "pathogenic (dominant)" "" "0000972718" "1" "90" "16" "2150263" "2150263" "subst" "0" "00006" "PKD1_000073" "g.2150263G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100262G>A" "" "pathogenic (dominant)" "" "0000972719" "0" "90" "16" "2150223" "2150223" "del" "0" "00006" "PKD1_000072" "g.2150223del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100222del" "" "pathogenic (dominant)" "" "0000972720" "1" "90" "16" "2149892" "2149892" "subst" "0" "00006" "PKD1_002923" "g.2149892C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2099891C>T" "" "pathogenic (dominant)" "" "0000972721" "1" "90" "16" "2149644" "2149644" "subst" "0" "00006" "PKD1_001620" "g.2149644C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2099643C>T" "" "pathogenic (dominant)" "" "0000972722" "1" "90" "16" "2147952" "2147952" "subst" "0" "00006" "PKD1_001611" "g.2147952G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2097951G>A" "" "pathogenic (dominant)" "" "0000972723" "1" "90" "16" "2147781" "2147781" "subst" "0" "00006" "PKD1_001598" "g.2147781G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2097780G>A" "" "pathogenic (dominant)" "" "0000972724" "1" "90" "16" "2147771" "2147771" "dup" "0" "00006" "PKD1_001596" "g.2147771dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097770dup" "" "pathogenic (dominant)" "" "0000972725" "1" "90" "16" "2147392" "2147392" "del" "0" "00006" "PKD1_001580" "g.2147392del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097391del" "" "pathogenic (dominant)" "" "0000972726" "1" "90" "16" "2147384" "2147384" "del" "0" "00006" "PKD1_001578" "g.2147384del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097383del" "" "pathogenic (dominant)" "" "0000972727" "1" "90" "16" "2147276" "2147390" "del" "0" "00006" "PKD1_001565" "g.2147276_2147390del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097275_2097389del" "" "pathogenic (dominant)" "" "0000972728" "1" "90" "16" "2147354" "2147354" "dup" "0" "00006" "PKD1_001574" "g.2147354dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2097353dup" "" "pathogenic (dominant)" "" "0000972729" "0" "90" "16" "2147319" "2147319" "subst" "0" "00006" "PKD1_001568" "g.2147319C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2097318C>A" "" "pathogenic (dominant)" "" "0000972730" "1" "90" "16" "2147225" "2147225" "subst" "0" "00006" "PKD1_000092" "g.2147225G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097224G>A" "" "pathogenic (dominant)" "" "0000972731" "1" "90" "16" "2147210" "2147211" "dup" "0" "00006" "PKD1_001558" "g.2147210_2147211dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097209_2097210dup" "" "pathogenic (dominant)" "" "0000972732" "1" "90" "16" "2147211" "2147211" "dup" "0" "00006" "PKD1_001557" "g.2147211dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2097210dup" "" "pathogenic (dominant)" "" "0000972733" "1" "90" "16" "2144212" "2144212" "subst" "0" "00006" "PKD1_001548" "g.2144212C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2094211C>T" "" "pathogenic (dominant)" "" "0000972734" "0" "90" "16" "2144171" "2144171" "subst" "0" "00006" "PKD1_000015" "g.2144171G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2094170G>A" "" "pathogenic (dominant)" "" "0000972735" "1" "90" "16" "2144171" "2144171" "subst" "0" "00006" "PKD1_000015" "g.2144171G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2094170G>A" "" "pathogenic (dominant)" "" "0000972736" "1" "90" "16" "2144091" "2144091" "subst" "0" "00006" "PKD1_001540" "g.2144091A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2094090A>G" "" "pathogenic (dominant)" "" "0000972737" "1" "90" "16" "2143996" "2143999" "del" "0" "00006" "PKD1_001534" "g.2143996_2143999del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093995_2093998del" "" "pathogenic (dominant)" "" "0000972738" "1" "90" "16" "2143913" "2143932" "del" "0" "00006" "PKD1_001524" "g.2143913_2143932del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093912_2093931del" "" "pathogenic (dominant)" "" "0000972739" "1" "90" "16" "2143915" "2143915" "subst" "0" "00006" "PKD1_001525" "g.2143915G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093914G>C" "" "pathogenic (dominant)" "" "0000972740" "1" "90" "16" "2143913" "2143914" "del" "0" "00006" "PKD1_001523" "g.2143913_2143914del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093912_2093913del" "" "pathogenic (dominant)" "" "0000972741" "0" "90" "16" "2143902" "2143912" "del" "0" "00006" "PKD1_001522" "g.2143902_2143912del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093901_2093911del" "" "pathogenic (dominant)" "" "0000972742" "1" "90" "16" "2143893" "2143893" "dup" "0" "00006" "PKD1_001521" "g.2143893dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093892dup" "" "pathogenic (dominant)" "" "0000972743" "1" "90" "16" "2143893" "2143893" "dup" "0" "00006" "PKD1_001521" "g.2143893dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093892dup" "" "pathogenic (dominant)" "" "0000972744" "1" "90" "16" "2143893" "2143893" "dup" "0" "00006" "PKD1_001521" "g.2143893dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093892dup" "" "pathogenic (dominant)" "" "0000972745" "1" "90" "16" "2143845" "2143845" "del" "0" "00006" "PKD1_001513" "g.2143845del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093844del" "" "pathogenic (dominant)" "" "0000972746" "1" "90" "16" "2143837" "2143837" "subst" "0" "00006" "PKD1_001512" "g.2143837G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093836G>T" "" "pathogenic (dominant)" "" "0000972747" "1" "90" "16" "2143729" "2143729" "del" "0" "00006" "PKD1_001502" "g.2143729del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093728del" "" "pathogenic (dominant)" "" "0000972748" "1" "90" "16" "2143665" "2143668" "del" "0" "00006" "PKD1_001498" "g.2143665_2143668del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093664_2093667del" "" "pathogenic (dominant)" "" "0000972749" "0" "90" "16" "2143667" "2143668" "del" "0" "00006" "PKD1_001497" "g.2143667_2143668del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093666_2093667del" "" "pathogenic (dominant)" "" "0000972750" "1" "90" "16" "2143596" "2143596" "del" "0" "00006" "PKD1_001488" "g.2143596del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093595del" "" "pathogenic (dominant)" "" "0000972751" "1" "90" "16" "2143557" "2143557" "dup" "0" "00006" "PKD1_001485" "g.2143557dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093556dup" "" "pathogenic (dominant)" "" "0000972752" "1" "90" "16" "2143544" "2143544" "subst" "0" "00006" "PKD1_001482" "g.2143544C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093543C>T" "" "pathogenic (dominant)" "" "0000972753" "1" "90" "16" "2143544" "2143544" "subst" "0" "00006" "PKD1_001482" "g.2143544C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093543C>T" "" "pathogenic (dominant)" "" "0000972754" "1" "90" "16" "2143033" "2143033" "dup" "0" "00006" "PKD1_000090" "g.2143033dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093032dup" "" "pathogenic (dominant)" "" "0000972755" "1" "90" "16" "2143033" "2143033" "dup" "0" "00006" "PKD1_000090" "g.2143033dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093032dup" "" "pathogenic (dominant)" "" "0000972756" "0" "90" "16" "2143020" "2143020" "del" "0" "00006" "PKD1_001466" "g.2143020del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093019del" "" "pathogenic (dominant)" "" "0000972757" "1" "90" "16" "2142970" "2142983" "del" "0" "00006" "PKD1_001461" "g.2142970_2142983del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092969_2092982del" "" "pathogenic (dominant)" "" "0000972758" "1" "90" "16" "2142507" "2142521" "del" "0" "00006" "PKD1_001445" "g.2142507_2142521del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092506_2092520del" "" "pathogenic (dominant)" "" "0000972759" "1" "90" "16" "2142163" "2142163" "delins" "0" "00006" "PKD1_001432" "g.2142163delinsCG" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092162delinsCG" "" "pathogenic (dominant)" "" "0000972760" "1" "90" "16" "2142150" "2142150" "dup" "0" "00006" "PKD1_001431" "g.2142150dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092149dup" "" "pathogenic (dominant)" "" "0000972761" "1" "90" "16" "2142142" "2142143" "ins" "0" "00006" "PKD1_001429" "g.2142142_2142143insT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092141_2092142insT" "" "pathogenic (dominant)" "" "0000972762" "1" "90" "16" "2142110" "2142136" "del" "0" "00006" "PKD1_001416" "g.2142110_2142136del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092109_2092135del" "" "pathogenic (dominant)" "" "0000972763" "1" "90" "16" "2142113" "2142119" "dup" "0" "00006" "PKD1_001421" "g.2142113_2142119dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092112_2092118dup" "" "pathogenic (dominant)" "" "0000972764" "1" "90" "16" "2142097" "2142116" "dup" "0" "00006" "PKD1_001414" "g.2142097_2142116dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092096_2092115dup" "" "pathogenic (dominant)" "" "0000972765" "1" "90" "16" "2142098" "2142098" "del" "0" "00006" "PKD1_001415" "g.2142098del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092097del" "" "pathogenic (dominant)" "" "0000972766" "1" "90" "16" "2142083" "2142083" "del" "0" "00006" "PKD1_000083" "g.2142083del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092082del" "" "pathogenic (dominant)" "" "0000972767" "1" "90" "16" "2142083" "2142083" "del" "0" "00006" "PKD1_000083" "g.2142083del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092082del" "" "pathogenic (dominant)" "" "0000972768" "1" "90" "16" "2142063" "2142064" "del" "0" "00006" "PKD1_001410" "g.2142063_2142064del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092062_2092063del" "" "pathogenic (dominant)" "" "0000972769" "1" "90" "16" "2141909" "2141909" "subst" "0" "00006" "PKD1_001401" "g.2141909T>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091908T>A" "" "pathogenic (dominant)" "" "0000972770" "1" "90" "16" "2141902" "2141902" "dup" "0" "00006" "PKD1_001398" "g.2141902dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091901dup" "" "pathogenic (dominant)" "" "0000972771" "1" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091857G>A" "" "pathogenic (dominant)" "" "0000972772" "1" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091857G>A" "" "pathogenic (dominant)" "" "0000972773" "1" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091857G>A" "" "pathogenic (dominant)" "" "0000972774" "1" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091857G>A" "" "pathogenic (dominant)" "" "0000972775" "1" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091857G>A" "" "pathogenic (dominant)" "" "0000972776" "1" "90" "16" "2141837" "2141837" "subst" "0" "00006" "PKD1_001392" "g.2141837C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091836C>A" "" "pathogenic (dominant)" "" "0000972777" "1" "90" "16" "2141781" "2141781" "subst" "0" "00006" "PKD1_001385" "g.2141781C>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091780C>A" "" "pathogenic (dominant)" "" "0000972778" "1" "90" "16" "2141599" "2141599" "subst" "0" "00006" "PKD1_001375" "g.2141599C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091598C>T" "" "pathogenic (dominant)" "" "0000972779" "1" "90" "16" "2141600" "2141600" "subst" "0" "00006" "PKD1_001376" "g.2141600T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091599T>C" "" "pathogenic (dominant)" "" "0000972780" "1" "90" "16" "2141548" "2141548" "dup" "0" "00006" "PKD1_001373" "g.2141548dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091547dup" "" "pathogenic (dominant)" "" "0000972781" "1" "90" "16" "2141507" "2141507" "del" "0" "00006" "PKD1_001367" "g.2141507del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091506del" "" "pathogenic (dominant)" "" "0000972782" "0" "90" "16" "2141478" "2141505" "dup" "0" "00006" "PKD1_001363" "g.2141478_2141505dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091477_2091504dup" "" "pathogenic (dominant)" "" "0000972783" "1" "90" "16" "2141482" "2141494" "dup" "0" "00006" "PKD1_001362" "g.2141482_2141494dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091481_2091493dup" "" "pathogenic (dominant)" "" "0000972784" "1" "90" "16" "2141144" "2141144" "del" "0" "00006" "PKD1_001347" "g.2141144del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091143del" "" "pathogenic (dominant)" "" "0000972785" "1" "90" "16" "2141117" "2141117" "del" "0" "00006" "PKD1_001346" "g.2141117del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091116del" "" "pathogenic (dominant)" "" "0000972786" "1" "90" "16" "2141105" "2141105" "subst" "0" "00006" "PKD1_001344" "g.2141105C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091104C>T" "" "pathogenic (dominant)" "" "0000972787" "1" "90" "16" "2141086" "2141087" "del" "0" "00006" "PKD1_001341" "g.2141086_2141087del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2091085_2091086del" "" "pathogenic (dominant)" "" "0000972788" "1" "90" "16" "2140962" "2140979" "del" "0" "00006" "PKD1_001328" "g.2140962_2140979del" "" "{PMID:Audrezet 2012:22508176}" "" "11909_11926del" "" "Germline" "" "" "0" "" "" "g.2090961_2090978del" "" "pathogenic (dominant)" "" "0000972789" "1" "90" "16" "2140953" "2140953" "subst" "0" "00006" "PKD1_000464" "g.2140953G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090952G>A" "" "pathogenic (dominant)" "" "0000972790" "1" "90" "16" "2140953" "2140953" "subst" "0" "00006" "PKD1_000464" "g.2140953G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090952G>A" "" "pathogenic (dominant)" "" "0000972791" "1" "90" "16" "2140953" "2140953" "subst" "0" "00006" "PKD1_000464" "g.2140953G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090952G>A" "" "pathogenic (dominant)" "" "0000972792" "1" "90" "16" "2140884" "2140884" "subst" "0" "00006" "PKD1_001320" "g.2140884C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090883C>T" "" "pathogenic (dominant)" "" "0000972793" "1" "90" "16" "2140811" "2140811" "subst" "0" "00006" "PKD1_001316" "g.2140811T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090810T>C" "" "pathogenic (dominant)" "" "0000972794" "1" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "00006" "PKD1_000269" "g.2140803G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090802G>A" "" "pathogenic (dominant)" "" "0000972795" "1" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "00006" "PKD1_000269" "g.2140803G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090802G>A" "" "pathogenic (dominant)" "" "0000972796" "1" "90" "16" "2140800" "2140800" "subst" "0" "00006" "PKD1_000055" "g.2140800G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090799G>A" "" "pathogenic (dominant)" "" "0000972797" "1" "90" "16" "2140800" "2140800" "subst" "0" "00006" "PKD1_000055" "g.2140800G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090799G>A" "" "pathogenic (dominant)" "" "0000972798" "0" "90" "16" "2140782" "2140782" "subst" "0" "00006" "PKD1_000044" "g.2140782G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090781G>A" "" "pathogenic (dominant)" "" "0000972799" "1" "90" "16" "2140778" "2140778" "subst" "4.13781E-6" "00006" "PKD1_000565" "g.2140778C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090777C>T" "" "pathogenic (dominant)" "" "0000972800" "1" "90" "16" "2140778" "2140778" "subst" "4.13781E-6" "00006" "PKD1_000565" "g.2140778C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090777C>T" "" "pathogenic (dominant)" "" "0000972801" "1" "90" "16" "2140757" "2140757" "subst" "0" "00006" "PKD1_000449" "g.2140757A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090756A>C" "" "pathogenic (dominant)" "" "0000972802" "1" "90" "16" "2140752" "2140752" "subst" "0" "00006" "PKD1_000011" "g.2140752G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090751G>A" "" "pathogenic (dominant)" "" "0000972803" "1" "90" "16" "2140752" "2140752" "subst" "0" "00006" "PKD1_000011" "g.2140752G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090751G>A" "" "pathogenic (dominant)" "" "0000972804" "1" "90" "16" "2140693" "2140729" "del" "0" "00006" "PKD1_001306" "g.2140693_2140729del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090692_2090728del" "" "pathogenic (dominant)" "" "0000972805" "1" "90" "16" "2140693" "2140729" "del" "0" "00006" "PKD1_001306" "g.2140693_2140729del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090692_2090728del" "" "pathogenic (dominant)" "" "0000972806" "0" "90" "16" "2140689" "2140689" "subst" "0" "00006" "PKD1_000003" "g.2140689G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090688G>A" "" "pathogenic (dominant)" "" "0000972807" "0" "90" "16" "2140673" "2140673" "subst" "0" "00006" "PKD1_001304" "g.2140673A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090672A>C" "" "pathogenic (dominant)" "" "0000972808" "0" "90" "16" "2140592" "2140592" "subst" "0" "00006" "PKD1_001293" "g.2140592C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090591C>T" "" "pathogenic (dominant)" "" "0000972809" "1" "90" "16" "2140554" "2140554" "dup" "0" "00006" "PKD1_001288" "g.2140554dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090553dup" "" "pathogenic (dominant)" "" "0000972810" "0" "90" "16" "2140518" "2140519" "del" "0" "00006" "PKD1_001284" "g.2140518_2140519del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090517_2090518del" "" "pathogenic (dominant)" "" "0000972811" "0" "90" "16" "2140508" "2140509" "del" "0" "00006" "PKD1_001279" "g.2140508_2140509del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090507_2090508del" "" "pathogenic (dominant)" "" "0000972812" "0" "90" "16" "2140491" "2140491" "subst" "0" "00006" "PKD1_001278" "g.2140491C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090490C>T" "" "pathogenic (dominant)" "" "0000972813" "1" "90" "16" "2140491" "2140491" "subst" "0" "00006" "PKD1_001278" "g.2140491C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090490C>T" "" "pathogenic (dominant)" "" "0000972814" "1" "90" "16" "2140443" "2140443" "subst" "0" "00006" "PKD1_001265" "g.2140443C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090442C>T" "" "pathogenic (dominant)" "" "0000972815" "1" "90" "16" "2140417" "2140420" "del" "0" "00006" "PKD1_001262" "g.2140417_2140420del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090416_2090419del" "" "pathogenic (dominant)" "" "0000972816" "1" "90" "16" "2140349" "2140349" "subst" "0" "00006" "PKD1_000023" "g.2140349G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090348G>C" "" "pathogenic (dominant)" "" "0000972817" "1" "90" "16" "2140310" "2140310" "subst" "0" "00006" "PKD1_000087" "g.2140310C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090309C>T" "" "pathogenic (dominant)" "" "0000972818" "0" "90" "16" "2140310" "2140310" "subst" "0" "00006" "PKD1_000087" "g.2140310C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "De novo" "" "" "0" "" "" "g.2090309C>T" "" "pathogenic (dominant)" "" "0000972819" "1" "90" "16" "2140309" "2140309" "dup" "0" "00006" "PKD1_001250" "g.2140309dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090308dup" "" "pathogenic (dominant)" "" "0000972820" "1" "90" "16" "2140196" "2140196" "subst" "0" "00006" "PKD1_001243" "g.2140196C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090195C>T" "" "pathogenic (dominant)" "" "0000972821" "1" "90" "16" "2140114" "2140114" "dup" "0" "00006" "PKD1_001229" "g.2140114dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090113dup" "" "pathogenic (dominant)" "" "0000972822" "1" "90" "16" "2140072" "2140072" "dup" "0" "00006" "PKD1_001223" "g.2140072dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090071dup" "" "pathogenic (dominant)" "" "0000972823" "0" "90" "16" "2140065" "2140068" "dup" "0" "00006" "PKD1_001220" "g.2140065_2140068dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090064_2090067dup" "" "pathogenic (dominant)" "" "0000972824" "0" "90" "16" "2140008" "2140035" "del" "0" "00006" "PKD1_001216" "g.2140008_2140035del" "" "{PMID:Audrezet 2012:22508176}" "" "12605_12632del" "" "De novo" "" "" "0" "" "" "g.2090007_2090034del" "" "pathogenic (dominant)" "" "0000972825" "0" "90" "16" "2140008" "2140035" "del" "0" "00006" "PKD1_001216" "g.2140008_2140035del" "" "{PMID:Audrezet 2012:22508176}" "" "12605_12632del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090007_2090034del" "" "pathogenic (dominant)" "" "0000972826" "0" "90" "16" "2140008" "2140035" "del" "0" "00006" "PKD1_001216" "g.2140008_2140035del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090007_2090034del" "" "pathogenic (dominant)" "" "0000972827" "1" "90" "16" "2140018" "2140019" "del" "0" "00006" "PKD1_001217" "g.2140018_2140019del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090017_2090018del" "" "pathogenic (dominant)" "" "0000972828" "1" "90" "16" "2140016" "2140016" "subst" "0" "00006" "PKD1_001218" "g.2140016A>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090015A>T" "" "pathogenic (dominant)" "" "0000972829" "1" "90" "16" "2139994" "2139994" "subst" "0" "00006" "PKD1_001214" "g.2139994G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2089993G>A" "" "pathogenic (dominant)" "" "0000972830" "0" "90" "16" "2139994" "2139994" "subst" "0" "00006" "PKD1_001214" "g.2139994G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2089993G>A" "" "pathogenic (dominant)" "" "0000972831" "0" "90" "16" "2139974" "2139974" "dup" "0" "00006" "PKD1_001209" "g.2139974dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2089973dup" "" "pathogenic (dominant)" "" "0000972832" "0" "90" "16" "2139949" "2139949" "subst" "0" "00006" "PKD1_000447" "g.2139949G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2089948G>A" "" "pathogenic (dominant)" "" "0000972833" "0" "90" "16" "2139930" "2139930" "dup" "0" "00006" "PKD1_001203" "g.2139930dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2089929dup" "" "pathogenic (dominant)" "" "0000972834" "1" "90" "16" "2138711" "2144212" "del" "0" "00006" "PKD1_001193" "g.(?_2138711)_(2144212_2147148)del" "" "{PMID:Audrezet 2012:22508176}" "" "del ex35-46" "" "Germline" "yes" "" "0" "" "" "g.(?_2088710)_(2094211_2097147)del" "" "pathogenic (dominant)" "" "0000972835" "1" "90" "16" "2142480" "2185899" "del" "0" "00006" "PKD1_001436" "g.(2142190_2142480)_(2185899_?)del" "" "{PMID:Audrezet 2012:22508176}" "" "del ex1-39" "" "Germline" "yes" "" "0" "" "" "g.(2092189_2092479)_(2135898_?)del" "" "pathogenic (dominant)" "" "0000972929" "1" "70" "16" "2185538" "2185538" "subst" "0" "00006" "PKD1_002827" "g.2185538G>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2135537G>C" "" "likely pathogenic (dominant)" "" "0000972930" "1" "70" "16" "2168019" "2168019" "subst" "0" "00006" "PKD1_000408" "g.2168019T>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2118018T>C" "" "likely pathogenic (dominant)" "" "0000972931" "1" "70" "16" "2168019" "2168019" "subst" "0" "00006" "PKD1_000408" "g.2168019T>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2118018T>C" "" "likely pathogenic (dominant)" "" "0000972932" "1" "70" "16" "2168019" "2168019" "subst" "0" "00006" "PKD1_000408" "g.2168019T>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2118018T>C" "" "likely pathogenic (dominant)" "" "0000972933" "1" "70" "16" "2166168" "2166648" "del" "0" "00006" "PKD1_002670" "g.2166168_2166648del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116167_2116647del" "" "likely pathogenic (dominant)" "" "0000972934" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972935" "1" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972936" "1" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972937" "1" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972938" "1" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972939" "1" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972940" "1" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972941" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972942" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000972943" "0" "70" "16" "2164490" "2164490" "subst" "4.40975E-6" "00006" "PKD1_000053" "g.2164490A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114489A>G" "" "likely pathogenic (dominant)" "" "0000972944" "1" "70" "16" "2164490" "2164490" "subst" "4.40975E-6" "00006" "PKD1_000053" "g.2164490A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2114489A>G" "" "likely pathogenic (dominant)" "" "0000972945" "0" "70" "16" "2163191" "2163193" "del" "0" "00006" "PKD1_002527" "g.2163191_2163193del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2113190_2113192del" "" "likely pathogenic (dominant)" "" "0000972946" "1" "70" "16" "2162925" "2162927" "del" "0" "00006" "PKD1_002506" "g.2162925_2162927del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2112924_2112926del" "" "likely pathogenic (dominant)" "" "0000972947" "0" "70" "16" "2161821" "2161823" "del" "0" "00006" "PKD1_002465" "g.2161821_2161823del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111820_2111822del" "" "likely pathogenic (dominant)" "" "0000972948" "1" "70" "16" "2161551" "2161551" "subst" "0" "00006" "PKD1_002440" "g.2161551A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111550A>C" "" "likely pathogenic (dominant)" "" "0000972949" "0" "70" "16" "2161551" "2161551" "subst" "0" "00006" "PKD1_002440" "g.2161551A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111550A>C" "" "likely pathogenic (dominant)" "" "0000972950" "0" "70" "16" "2161551" "2161551" "subst" "0" "00006" "PKD1_002440" "g.2161551A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111550A>C" "" "likely pathogenic (dominant)" "" "0000972951" "0" "70" "16" "2161551" "2161551" "subst" "0" "00006" "PKD1_002440" "g.2161551A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111550A>C" "" "likely pathogenic (dominant)" "" "0000972952" "1" "70" "16" "2161450" "2161452" "del" "0" "00006" "PKD1_000238" "g.2161450_2161452del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2111449_2111451del" "" "likely pathogenic (dominant)" "" "0000972953" "1" "70" "16" "2161450" "2161452" "del" "0" "00006" "PKD1_000238" "g.2161450_2161452del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2111449_2111451del" "" "likely pathogenic (dominant)" "" "0000972954" "1" "70" "16" "2160822" "2160824" "del" "0" "00006" "PKD1_002366" "g.2160822_2160824del" "" "{PMID:Audrezet 2012:22508176}" "" "4347_4349del" "" "Germline" "" "" "0" "" "" "g.2110821_2110823del" "" "likely pathogenic (dominant)" "" "0000972955" "1" "70" "16" "2159988" "2159988" "subst" "3.78059E-5" "00006" "PKD1_002295" "g.2159988G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109987G>A" "" "likely pathogenic (dominant)" "" "0000972956" "1" "70" "16" "2159560" "2159560" "subst" "0" "00006" "PKD1_002252" "g.2159560T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109559T>C" "" "likely pathogenic (dominant)" "" "0000972957" "1" "70" "16" "2159190" "2159192" "del" "0" "00006" "PKD1_000130" "g.2159190_2159192del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2109189_2109191del" "" "likely pathogenic (dominant)" "" "0000972958" "1" "70" "16" "2158388" "2158390" "del" "0" "00006" "PKD1_000196" "g.2158388_2158390del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2108387_2108389del" "" "likely pathogenic (dominant)" "" "0000972959" "1" "70" "16" "2158388" "2158390" "del" "0" "00006" "PKD1_000196" "g.2158388_2158390del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108387_2108389del" "" "likely pathogenic (dominant)" "" "0000972960" "1" "70" "16" "2156900" "2156900" "subst" "0" "00006" "PKD1_002079" "g.2156900G>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106899G>C" "" "likely pathogenic (dominant)" "" "0000972961" "1" "70" "16" "2156879" "2156879" "subst" "0" "00006" "PKD1_002074" "g.2156879T>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106878T>C" "" "likely pathogenic (dominant)" "" "0000972962" "1" "70" "16" "2156879" "2156879" "subst" "0" "00006" "PKD1_002074" "g.2156879T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106878T>C" "" "likely pathogenic (dominant)" "" "0000972963" "0" "70" "16" "2156879" "2156879" "subst" "0" "00006" "PKD1_002074" "g.2156879T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106878T>C" "" "likely pathogenic (dominant)" "" "0000972964" "1" "70" "16" "2156879" "2156879" "subst" "0" "00006" "PKD1_002074" "g.2156879T>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2106878T>C" "" "likely pathogenic (dominant)" "" "0000972965" "1" "70" "16" "2156623" "2156623" "subst" "0" "00006" "PKD1_000434" "g.2156623G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2106622G>T" "" "likely pathogenic (dominant)" "" "0000972966" "1" "70" "16" "2156247" "2156252" "del" "0" "00006" "PKD1_002006" "g.2156247_2156252del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106246_2106251del" "" "likely pathogenic (dominant)" "" "0000972967" "0" "70" "16" "2156249" "2156249" "subst" "0" "00006" "PKD1_000292" "g.2156249G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106248G>A" "" "likely pathogenic (dominant)" "" "0000972968" "0" "70" "16" "2155412" "2155412" "subst" "4.39213E-6" "00006" "PKD1_000288" "g.2155412G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2105411G>A" "" "likely pathogenic (dominant)" "" "0000972969" "0" "70" "16" "2153759" "2153759" "subst" "0" "00006" "PKD1_000286" "g.2153759G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103758G>A" "" "likely pathogenic (dominant)" "" "0000972970" "1" "70" "16" "2153759" "2153759" "subst" "0" "00006" "PKD1_000286" "g.2153759G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103758G>A" "" "likely pathogenic (dominant)" "" "0000972971" "1" "70" "16" "2153759" "2153759" "subst" "0" "00006" "PKD1_000286" "g.2153759G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103758G>A" "" "likely pathogenic (dominant)" "" "0000972972" "1" "70" "16" "2153758" "2153758" "subst" "0" "00006" "PKD1_001881" "g.2153758C>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103757C>G" "" "likely pathogenic (dominant)" "" "0000972973" "1" "70" "16" "2153749" "2153749" "subst" "0" "00006" "PKD1_001878" "g.2153749T>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103748T>A" "" "likely pathogenic (dominant)" "" "0000972974" "1" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972975" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972976" "1" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972977" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972978" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972979" "1" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972980" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972981" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972982" "0" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972983" "1" "70" "16" "2153747" "2153747" "subst" "0" "00006" "PKD1_000116" "g.2153747C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103746C>T" "" "likely pathogenic (dominant)" "" "0000972984" "1" "70" "16" "2153737" "2153737" "subst" "0" "00006" "PKD1_001875" "g.2153737A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103736A>G" "" "likely pathogenic (dominant)" "" "0000972985" "1" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000972986" "1" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000972987" "1" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000972988" "1" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000972989" "1" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000972990" "1" "70" "16" "2153582" "2153583" "ins" "0" "00006" "PKD1_001856" "g.2153582_2153583insAGC" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103581_2103582insAGC" "" "likely pathogenic (dominant)" "" "0000972991" "1" "70" "16" "2153496" "2153501" "del" "0" "00006" "PKD1_001845" "g.2153496_2153501del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103495_2103500del" "" "likely pathogenic (dominant)" "" "0000972992" "1" "70" "16" "2153496" "2153501" "del" "0" "00006" "PKD1_001845" "g.2153496_2153501del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2103495_2103500del" "" "likely pathogenic (dominant)" "" "0000972993" "1" "70" "16" "2152830" "2152831" "delins" "0" "00006" "PKD1_001783" "g.2152830_2152831delinsGT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102829_2102830delinsGT" "" "likely pathogenic (dominant)" "" "0000972994" "1" "70" "16" "2152599" "2152599" "subst" "0" "00006" "PKD1_001765" "g.2152599A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102598A>C" "" "likely pathogenic (dominant)" "" "0000972995" "0" "70" "16" "2152082" "2152082" "subst" "0" "00006" "PKD1_001710" "g.2152082G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102081G>A" "" "likely pathogenic (dominant)" "" "0000972996" "1" "70" "16" "2152082" "2152082" "subst" "0" "00006" "PKD1_001710" "g.2152082G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2102081G>A" "" "likely pathogenic (dominant)" "" "0000972997" "1" "70" "16" "2150534" "2150534" "subst" "0" "00006" "PKD1_001695" "g.2150534C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100533C>T" "" "likely pathogenic (dominant)" "" "0000972998" "1" "70" "16" "2150422" "2150422" "subst" "0" "00006" "PKD1_001688" "g.2150422C>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100421C>G" "" "likely pathogenic (dominant)" "" "0000972999" "0" "70" "16" "2150403" "2150405" "del" "0" "00006" "PKD1_000229" "g.2150403_2150405del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100402_2100404del" "" "likely pathogenic (dominant)" "" "0000973000" "0" "70" "16" "2150403" "2150405" "del" "0" "00006" "PKD1_000229" "g.2150403_2150405del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100402_2100404del" "" "likely pathogenic (dominant)" "" "0000973001" "1" "70" "16" "2150301" "2150301" "subst" "0" "00006" "PKD1_001673" "g.2150301G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2100300G>A" "" "likely pathogenic (dominant)" "" "0000973002" "0" "70" "16" "2147838" "2147856" "del" "0" "00006" "PKD1_000551" "g.2147838_2147856del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2097837_2097855del" "" "likely pathogenic (dominant)" "" "0000973003" "1" "70" "16" "2147838" "2147856" "del" "0" "00006" "PKD1_000551" "g.2147838_2147856del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2097837_2097855del" "" "likely pathogenic (dominant)" "" "0000973004" "1" "70" "16" "2143937" "2143940" "delins" "0" "00006" "PKD1_001526" "g.2143937_2143940delinsT" "" "{PMID:Audrezet 2012:22508176}" "" "Val3565_Ala3566delinsThr" "" "Germline" "yes" "" "0" "" "" "g.2093936_2093939delinsT" "" "likely pathogenic (dominant)" "" "0000973005" "1" "70" "16" "2143610" "2143610" "subst" "0" "00006" "PKD1_000261" "g.2143610C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093609C>T" "" "likely pathogenic (dominant)" "" "0000973006" "0" "70" "16" "2143610" "2143610" "subst" "0" "00006" "PKD1_000261" "g.2143610C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093609C>T" "" "likely pathogenic (dominant)" "" "0000973007" "1" "70" "16" "2143610" "2143610" "subst" "0" "00006" "PKD1_000261" "g.2143610C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2093609C>T" "" "likely pathogenic (dominant)" "" "0000973008" "1" "70" "16" "2143610" "2143610" "subst" "0" "00006" "PKD1_000261" "g.2143610C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2093609C>T" "" "likely pathogenic (dominant)" "" "0000973009" "1" "70" "16" "2143603" "2143603" "subst" "0" "00006" "PKD1_001490" "g.2143603G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093602G>A" "" "likely pathogenic (dominant)" "" "0000973010" "1" "70" "16" "2143603" "2143603" "subst" "0" "00006" "PKD1_001490" "g.2143603G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2093602G>A" "" "likely pathogenic (dominant)" "" "0000973011" "1" "70" "16" "2143104" "2143104" "subst" "0" "00006" "PKD1_001475" "g.2143104G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2093103G>T" "" "likely pathogenic (dominant)" "" "0000973012" "0" "70" "16" "2142955" "2142955" "subst" "0" "00006" "PKD1_000107" "g.2142955C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2092954C>T" "" "likely pathogenic (dominant)" "" "0000973013" "1" "70" "16" "2142544" "2142549" "del" "0" "00006" "PKD1_001447" "g.2142544_2142549del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092543_2092548del" "" "likely pathogenic (dominant)" "" "0000973014" "1" "70" "16" "2142504" "2142506" "del" "0" "00006" "PKD1_001444" "g.2142504_2142506del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092503_2092505del" "" "likely pathogenic (dominant)" "" "0000973015" "1" "70" "16" "2142493" "2142493" "subst" "0" "00006" "PKD1_000070" "g.2142493G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092492G>A" "" "likely pathogenic (dominant)" "" "0000973016" "1" "70" "16" "2142493" "2142493" "subst" "0" "00006" "PKD1_000070" "g.2142493G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092492G>A" "" "likely pathogenic (dominant)" "" "0000973017" "0" "70" "16" "2142493" "2142493" "subst" "0" "00006" "PKD1_000070" "g.2142493G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2092492G>A" "" "likely pathogenic (dominant)" "" "0000973018" "1" "70" "16" "2142493" "2142493" "subst" "0" "00006" "PKD1_000070" "g.2142493G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2092492G>A" "" "likely pathogenic (dominant)" "" "0000973019" "1" "70" "16" "2142492" "2142492" "subst" "0" "00006" "PKD1_000329" "g.2142492C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092491C>T" "" "likely pathogenic (dominant)" "" "0000973020" "1" "70" "16" "2142500" "2142501" "delins" "0" "00006" "PKD1_001443" "g.2142500_2142501delinsTT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092499_2092500delinsTT" "" "likely pathogenic (dominant)" "" "0000973021" "1" "70" "16" "2142500" "2142501" "delins" "0" "00006" "PKD1_001443" "g.2142500_2142501delinsTT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092499_2092500delinsTT" "" "likely pathogenic (dominant)" "" "0000973022" "1" "70" "16" "2142500" "2142501" "delins" "0" "00006" "PKD1_001443" "g.2142500_2142501delinsTT" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092499_2092500delinsTT" "" "likely pathogenic (dominant)" "" "0000973023" "1" "70" "16" "2142115" "2142117" "del" "0" "00006" "PKD1_001419" "g.2142115_2142117del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2092114_2092116del" "" "likely pathogenic (dominant)" "" "0000973024" "1" "70" "16" "2141522" "2141522" "subst" "0" "00006" "PKD1_001371" "g.2141522C>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2091521C>G" "" "likely pathogenic (dominant)" "" "0000973025" "0" "70" "16" "2141522" "2141522" "subst" "0" "00006" "PKD1_001371" "g.2141522C>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091521C>G" "" "likely pathogenic (dominant)" "" "0000973026" "1" "70" "16" "2140342" "2140344" "del" "0" "00006" "PKD1_000273" "g.2140342_2140344del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090341_2090343del" "" "likely pathogenic (dominant)" "" "0000973027" "1" "70" "16" "2140194" "2140205" "dup" "0" "00006" "PKD1_001239" "g.2140194_2140205dup" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090193_2090204dup" "" "likely pathogenic (dominant)" "" "0000973028" "1" "70" "16" "2140192" "2140192" "subst" "0" "00006" "PKD1_000272" "g.2140192G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2090191G>A" "" "likely pathogenic (dominant)" "" "0000973029" "1" "70" "16" "2140192" "2140192" "subst" "0" "00006" "PKD1_000272" "g.2140192G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2090191G>A" "" "likely pathogenic (dominant)" "" "0000973030" "1" "70" "16" "2140192" "2140192" "subst" "0" "00006" "PKD1_000272" "g.2140192G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2090191G>A" "" "likely pathogenic (dominant)" "" "0000973031" "1" "70" "16" "2139814" "2139814" "subst" "0.00377645" "00006" "PKD1_000046" "g.2139814G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2089813G>A" "" "likely pathogenic (dominant)" "" "0000973032" "0" "70" "16" "2139814" "2139814" "subst" "0.00377645" "00006" "PKD1_000046" "g.2139814G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2089813G>A" "" "likely pathogenic (dominant)" "" "0000973033" "0" "70" "16" "2139814" "2139814" "subst" "0.00377645" "00006" "PKD1_000046" "g.2139814G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2089813G>A" "" "likely pathogenic (dominant)" "" "0000973034" "1" "70" "16" "2139814" "2139814" "subst" "0.00377645" "00006" "PKD1_000046" "g.2139814G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2089813G>A" "" "likely pathogenic (dominant)" "" "0000973035" "1" "70" "16" "2139814" "2139814" "subst" "0.00377645" "00006" "PKD1_000046" "g.2139814G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2089813G>A" "" "likely pathogenic (dominant)" "" "0000973042" "1" "70" "16" "2169115" "2169115" "subst" "0" "00006" "PKD1_002793" "g.2169115A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2119114A>G" "" "likely pathogenic (dominant)" "" "0000973043" "1" "70" "16" "2168821" "2168821" "subst" "0" "00006" "PKD1_002788" "g.2168821A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2118820A>G" "" "likely pathogenic (dominant)" "" "0000973044" "1" "70" "16" "2168742" "2168742" "subst" "0" "00006" "PKD1_002785" "g.2168742C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2118741C>T" "" "likely pathogenic (dominant)" "" "0000973045" "0" "70" "16" "2168445" "2168445" "subst" "0" "00006" "PKD1_002778" "g.2168445C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118444C>T" "" "likely pathogenic (dominant)" "" "0000973046" "1" "70" "16" "2166864" "2166864" "subst" "0" "00006" "PKD1_002690" "g.2166864G>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2116863G>C" "" "likely pathogenic (dominant)" "" "0000973047" "1" "70" "16" "2166112" "2166112" "subst" "0" "00006" "PKD1_002668" "g.2166112A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2116111A>C" "" "likely pathogenic (dominant)" "" "0000973048" "1" "70" "16" "2166011" "2166011" "subst" "0" "00006" "PKD1_000305" "g.2166011G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2116010G>A" "" "likely pathogenic (dominant)" "" "0000973049" "0" "70" "16" "2166011" "2166011" "subst" "0" "00006" "PKD1_000305" "g.2166011G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2116010G>A" "" "likely pathogenic (dominant)" "" "0000973050" "0" "70" "16" "2166011" "2166011" "subst" "0" "00006" "PKD1_000305" "g.2166011G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2116010G>A" "" "likely pathogenic (dominant)" "" "0000973051" "0" "70" "16" "2165423" "2165423" "subst" "0" "00006" "PKD1_002623" "g.2165423C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2115422C>T" "" "likely pathogenic (dominant)" "" "0000973052" "0" "70" "16" "2165384" "2165384" "subst" "0" "00006" "PKD1_002614" "g.2165384A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2115383A>C" "" "likely pathogenic (dominant)" "" "0000973053" "1" "70" "16" "2165384" "2165384" "subst" "0" "00006" "PKD1_002614" "g.2165384A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2115383A>C" "" "likely pathogenic (dominant)" "" "0000973054" "0" "70" "16" "2165384" "2165384" "subst" "0" "00006" "PKD1_002614" "g.2165384A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2115383A>C" "" "likely pathogenic (dominant)" "" "0000973055" "0" "70" "16" "2165384" "2165384" "subst" "0" "00006" "PKD1_002614" "g.2165384A>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2115383A>C" "" "likely pathogenic (dominant)" "" "0000973056" "1" "70" "16" "2161875" "2161875" "subst" "0" "00006" "PKD1_002470" "g.2161875G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2111874G>C" "" "likely pathogenic (dominant)" "" "0000973057" "1" "70" "16" "2161446" "2161446" "subst" "0" "00006" "PKD1_002430" "g.2161446A>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2111445A>T" "" "likely pathogenic (dominant)" "" "0000973058" "1" "70" "16" "2160789" "2160789" "subst" "0" "00006" "PKD1_001080" "g.2160789A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2110788A>C" "" "likely pathogenic (dominant)" "" "0000973059" "1" "70" "16" "2160618" "2160618" "subst" "0" "00006" "PKD1_002350" "g.2160618T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110617T>C" "" "likely pathogenic (dominant)" "" "0000973060" "1" "70" "16" "2160618" "2160618" "subst" "0" "00006" "PKD1_002350" "g.2160618T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2110617T>C" "" "likely pathogenic (dominant)" "" "0000973061" "1" "70" "16" "2158672" "2158672" "subst" "0.00320602" "00006" "PKD1_000297" "g.2158672G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2108671G>A" "" "likely pathogenic (dominant)" "" "0000973062" "1" "70" "16" "2158672" "2158672" "subst" "0.00320602" "00006" "PKD1_000297" "g.2158672G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2108671G>A" "" "likely pathogenic (dominant)" "" "0000973063" "0" "70" "16" "2158609" "2158609" "subst" "0" "00006" "PKD1_002165" "g.2158609A>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108608A>G" "" "likely pathogenic (dominant)" "" "0000973064" "0" "70" "16" "2158323" "2158323" "subst" "0" "00006" "PKD1_002126" "g.2158323T>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108322T>C" "" "likely pathogenic (dominant)" "" "0000973065" "0" "70" "16" "2158276" "2158276" "subst" "0" "00006" "PKD1_002122" "g.2158276A>C" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108275A>C" "" "likely pathogenic (dominant)" "" "0000973066" "0" "70" "16" "2157964" "2157964" "subst" "0" "00006" "PKD1_000077" "g.2157964G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2107963G>A" "" "likely pathogenic (dominant)" "" "0000973067" "1" "70" "16" "2156958" "2156966" "del" "0" "00006" "PKD1_002088" "g.2156958_2156966del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106957_2106965del" "" "likely pathogenic (dominant)" "" "0000973068" "0" "70" "16" "2156843" "2156843" "subst" "0" "00006" "PKD1_000480" "g.2156843C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106842C>T" "" "likely pathogenic (dominant)" "" "0000973069" "1" "70" "16" "2156588" "2156588" "subst" "0" "00006" "PKD1_000478" "g.2156588G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2106587G>A" "" "likely pathogenic (dominant)" "" "0000973070" "1" "70" "16" "2156588" "2156588" "subst" "0" "00006" "PKD1_000478" "g.2156588G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2106587G>A" "" "likely pathogenic (dominant)" "" "0000973071" "1" "70" "16" "2156512" "2156512" "subst" "0" "00006" "PKD1_002040" "g.2156512C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2106511C>T" "" "likely pathogenic (dominant)" "" "0000973072" "1" "70" "16" "2156462" "2156462" "subst" "0" "00006" "PKD1_002030" "g.2156462A>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2106461A>T" "" "likely pathogenic (dominant)" "" "0000973073" "0" "70" "16" "2156405" "2156405" "subst" "0" "00006" "PKD1_002026" "g.2156405A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106404A>G" "" "likely pathogenic (dominant)" "" "0000973074" "1" "70" "16" "2153611" "2153611" "subst" "0" "00006" "PKD1_000115" "g.2153611A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2103610A>G" "" "likely pathogenic (dominant)" "" "0000973075" "0" "70" "16" "2152833" "2152833" "subst" "0" "00006" "PKD1_001784" "g.2152833G>A" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102832G>A" "" "likely pathogenic (dominant)" "" "0000973076" "1" "70" "16" "2152429" "2152429" "subst" "0" "00006" "PKD1_001741" "g.2152429C>G" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2102428C>G" "" "likely pathogenic (dominant)" "" "0000973077" "0" "70" "16" "2150553" "2150553" "subst" "8.26733E-6" "00006" "PKD1_000254" "g.2150553C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100552C>T" "" "likely pathogenic (dominant)" "" "0000973078" "1" "70" "16" "2150535" "2150535" "subst" "0" "00006" "PKD1_001696" "g.2150535C>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2100534C>A" "" "likely pathogenic (dominant)" "" "0000973079" "1" "70" "16" "2150480" "2150480" "subst" "0" "00006" "PKD1_001691" "g.2150480C>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2100479C>A" "" "likely pathogenic (dominant)" "" "0000973080" "3" "70" "16" "2149956" "2149956" "subst" "0.000155417" "00006" "PKD1_000439" "g.2149956G>A" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2099955G>A" "" "likely pathogenic (dominant)" "" "0000973081" "1" "70" "16" "2149774" "2149774" "subst" "0" "00006" "PKD1_001632" "g.2149774G>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2099773G>C" "" "likely pathogenic (dominant)" "" "0000973082" "1" "70" "16" "2143609" "2143609" "subst" "0" "00006" "PKD1_001492" "g.2143609C>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093608C>T" "" "likely pathogenic (dominant)" "" "0000973083" "1" "70" "16" "2143591" "2143591" "subst" "0" "00006" "PKD1_001486" "g.2143591G>T" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2093590G>T" "" "likely pathogenic (dominant)" "" "0000973084" "1" "70" "16" "2142501" "2142501" "subst" "4.11238E-6" "00006" "PKD1_000466" "g.2142501C>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2092500C>T" "" "likely pathogenic (dominant)" "" "0000973085" "1" "70" "16" "2141851" "2141851" "subst" "0" "00006" "PKD1_001394" "g.2141851A>G" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2091850A>G" "" "likely pathogenic (dominant)" "" "0000973086" "1" "70" "16" "2140672" "2140675" "del" "0" "00006" "PKD1_001302" "g.2140672_2140675del" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "" "" "0" "" "" "g.2090671_2090674del" "" "likely pathogenic (dominant)" "" "0000973087" "1" "70" "16" "2142499" "2142499" "subst" "0" "00006" "PKD1_001442" "g.2142499G>T" "" "{PMID:Audrezet 2012:22508176}, {PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2092498G>T" "" "likely pathogenic (dominant)" "" "0000973091" "0" "70" "16" "2152098" "2152098" "subst" "0" "00006" "PKD1_000555" "g.2152098C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102097C>T" "" "likely pathogenic (dominant)" "" "0000973092" "0" "70" "16" "2149652" "2149652" "subst" "0.000318695" "00006" "PKD1_000612" "g.2149652C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2099651C>T" "" "likely pathogenic (dominant)" "" "0000973093" "0" "70" "16" "2142546" "2142546" "subst" "0" "00006" "PKD1_001448" "g.2142546A>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2092545A>T" "" "likely pathogenic (dominant)" "" "0000973094" "0" "70" "16" "2168319" "2168319" "subst" "0.00023033" "00006" "PKD1_002764" "g.2168319G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118318G>A" "" "likely pathogenic (dominant)" "" "0000973095" "0" "70" "16" "2149887" "2149887" "subst" "0.000138059" "00006" "PKD1_001637" "g.2149887C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2099886C>T" "" "likely pathogenic (dominant)" "" "0000973096" "0" "70" "16" "2158525" "2158525" "subst" "8.43697E-6" "00006" "PKD1_000629" "g.2158525G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108524G>A" "" "likely pathogenic (dominant)" "" "0000973097" "0" "70" "16" "2168298" "2168298" "subst" "0" "00006" "PKD1_002763" "g.2168298C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118297C>T" "" "likely pathogenic (dominant)" "" "0000973098" "1" "70" "16" "2153521" "2153521" "subst" "0" "00006" "PKD1_001850" "g.2153521G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2103520G>A" "" "likely pathogenic (dominant)" "" "0000973099" "0" "70" "16" "2141425" "2141425" "subst" "0" "00006" "PKD1_001358" "g.2141425G>C" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091424G>C" "" "likely pathogenic (dominant)" "" "0000973100" "0" "70" "16" "2158276" "2158276" "subst" "0" "00006" "PKD1_002122" "g.2158276A>C" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108275A>C" "" "likely pathogenic (dominant)" "" "0000973101" "0" "70" "16" "2158786" "2158786" "subst" "0" "00006" "PKD1_002182" "g.2158786T>G" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108785T>G" "" "likely pathogenic (dominant)" "" "0000973102" "1" "70" "16" "2156588" "2156588" "subst" "0" "00006" "PKD1_000478" "g.2156588G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2106587G>A" "" "likely pathogenic (dominant)" "" "0000973103" "0" "70" "16" "2159170" "2159170" "subst" "0" "00006" "PKD1_002218" "g.2159170A>G" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109169A>G" "" "likely pathogenic (dominant)" "" "0000973104" "0" "70" "16" "2152830" "2152830" "subst" "0" "00006" "PKD1_001781" "g.2152830A>C" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102829A>C" "" "likely pathogenic (dominant)" "" "0000973105" "0" "70" "16" "2166897" "2166897" "subst" "0" "00006" "PKD1_002693" "g.2166897C>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2116896C>A" "" "likely pathogenic (dominant)" "" "0000973106" "0" "70" "16" "2158521" "2158521" "subst" "0" "00006" "PKD1_002150" "g.2158521A>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108520A>T" "" "likely pathogenic (dominant)" "" "0000973107" "0" "70" "16" "2164844" "2164844" "subst" "0" "00006" "PKD1_000393" "g.2164844A>G" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2114843A>G" "" "likely pathogenic (dominant)" "" "0000973108" "0" "70" "16" "2159185" "2159185" "subst" "2.96108E-5" "00006" "PKD1_002221" "g.2159185G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109184G>A" "" "likely pathogenic (dominant)" "" "0000973109" "0" "70" "16" "2159208" "2159208" "subst" "0.000102159" "00006" "PKD1_002223" "g.2159208C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109207C>T" "" "likely pathogenic (dominant)" "" "0000973110" "0" "70" "16" "2152064" "2152064" "subst" "0" "00006" "PKD1_001707" "g.2152064G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102063G>A" "" "likely pathogenic (dominant)" "" "0000973111" "0" "70" "16" "2159232" "2159232" "subst" "0" "00006" "PKD1_002225" "g.2159232C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109231C>T" "" "likely pathogenic (dominant)" "" "0000973112" "0" "70" "16" "2159988" "2159988" "subst" "3.78059E-5" "00006" "PKD1_002295" "g.2159988G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109987G>A" "" "likely pathogenic (dominant)" "" "0000973113" "0" "70" "16" "2142492" "2142492" "subst" "0" "00006" "PKD1_000329" "g.2142492C>T" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2092491C>T" "" "likely pathogenic (dominant)" "" "0000973114" "0" "70" "16" "2150302" "2150302" "subst" "0" "00006" "PKD1_001675" "g.2150302G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2100301G>A" "" "likely pathogenic (dominant)" "" "0000973115" "1" "70" "16" "2161551" "2161551" "subst" "0" "00006" "PKD1_002440" "g.2161551A>C" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline" "" "" "0" "" "" "g.2111550A>C" "" "likely pathogenic (dominant)" "" "0000973116" "0" "70" "16" "2156249" "2156249" "subst" "0" "00006" "PKD1_000292" "g.2156249G>A" "" "{PMID:Cornec-Le Gall 2013:23431072}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106248G>A" "" "likely pathogenic (dominant)" "" "0000973117" "0" "50" "16" "2168025" "2168025" "subst" "2.07972E-5" "00006" "PKD1_002743" "g.2168025T>C" "" "{PMID:Audrezet 2012:22508176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2118024T>C" "" "VUS" "" "0000981682" "0" "30" "16" "2094653" "2094653" "subst" "0.00195319" "02329" "NTHL1_000012" "g.2094653A>G" "" "" "" "NTHL1(NM_001318194.1):c.173T>C (p.(Ile58Thr)), NTHL1(NM_002528.7):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981684" "0" "10" "16" "2096384" "2096384" "subst" "0.0026114" "02326" "NTHL1_000008" "g.2096384G>A" "" "" "" "NTHL1(NM_002528.7):c.116-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981688" "0" "30" "16" "2105507" "2105507" "subst" "3.24852E-5" "01804" "TSC2_000356" "g.2105507G>A" "" "" "" "TSC2(NM_000548.3):c.586G>A (p.A196T), TSC2(NM_000548.5):c.586G>A (p.(Ala196Thr), p.A196T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981689" "0" "30" "16" "2105541" "2105541" "subst" "4.06101E-6" "02329" "TSC2_001979" "g.2105541C>G" "" "" "" "TSC2(NM_000548.5):c.599+21C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981690" "0" "50" "16" "2105907" "2105908" "ins" "0" "01804" "TSC2_001980" "g.2105907_2105908insT" "" "" "" "TSC2(NM_001318831.2):c.-1-290_-1-289insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000981692" "0" "30" "16" "2110710" "2110710" "subst" "2.03069E-5" "02329" "TSC2_001986" "g.2110710G>A" "" "" "" "TSC2(NM_000548.5):c.1015G>A (p.V339I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981693" "0" "30" "16" "2110765" "2110765" "subst" "0.000446936" "02326" "TSC2_002016" "g.2110765C>T" "" "" "" "TSC2(NM_000548.3):c.1070C>T (p.A357V, p.(Ala357Val)), TSC2(NM_000548.5):c.1070C>T (p.A357V), TSC2(NM_001114382.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981694" "0" "30" "16" "2110823" "2110823" "subst" "0" "01804" "TSC2_001987" "g.2110823G>C" "" "" "" "TSC2(NM_000548.5):c.1119+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981695" "0" "30" "16" "2112516" "2112516" "subst" "0.00118043" "01804" "TSC2_000063" "g.2112516C>T" "" "" "" "TSC2(NM_000548.3):c.1276C>T (p.L426=), TSC2(NM_000548.5):c.1276C>T (p.L426=, p.(Leu426=)), TSC2(NM_001114382.2):c.1276C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981696" "0" "30" "16" "2112968" "2112968" "subst" "2.0326E-5" "01804" "TSC2_001988" "g.2112968C>T" "" "" "" "TSC2(NM_000548.5):c.1362-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981697" "0" "50" "16" "2115578" "2115578" "subst" "8.14657E-6" "01804" "TSC2_001991" "g.2115578A>G" "" "" "" "TSC2(NM_000548.5):c.1658A>G (p.(Tyr553Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000981700" "0" "30" "16" "2121811" "2121811" "subst" "0.000283472" "02329" "TSC2_002020" "g.2121811A>C" "" "" "" "TSC2(NM_000548.5):c.1973A>C (p.K658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981701" "0" "30" "16" "2122396" "2122396" "del" "0" "02329" "TSC2_000548" "g.2122396del" "" "" "" "TSC2(NM_000548.3):c.2220+32delG, TSC2(NM_000548.5):c.2220+32delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981702" "0" "30" "16" "2124272" "2124272" "subst" "0.000183152" "01804" "TSC2_002207" "g.2124272C>T" "" "" "" "TSC2(NM_000548.3):c.2427C>T (p.S809=), TSC2(NM_000548.5):c.2427C>T (p.S809=, p.(Ser809=)), TSC2(NM_001114382.2):c.2427C>T (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981703" "0" "30" "16" "2125819" "2125819" "subst" "0.000346074" "02329" "TSC2_001472" "g.2125819C>T" "" "" "" "TSC2(NM_000548.5):c.2565C>T (p.H855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981704" "0" "30" "16" "2125837" "2125837" "subst" "3.25526E-5" "02329" "TSC2_003480" "g.2125837C>T" "" "" "" "TSC2(NM_000548.5):c.2583C>T (p.A861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000981705" "0" "70" "16" "2126143" "2126143" "subst" "0" "02327" "TSC2_000134" "g.2126143G>A" "" "" "" "TSC2(NM_000548.3):c.2714G>A (p.R905Q), TSC2(NM_000548.5):c.2714G>A (p.R905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981706" "0" "50" "16" "2126583" "2126583" "subst" "0" "01804" "TSC2_003874" "g.2126583A>G" "" "" "" "TSC2(NM_000548.3):c.2834A>G (p.K945R, p.(Lys945Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981707" "0" "30" "16" "2127724" "2127724" "subst" "6.9269E-5" "02326" "TSC2_002021" "g.2127724G>C" "" "" "" "TSC2(NM_000548.3):c.2963G>C (p.R988P), TSC2(NM_000548.5):c.2963G>C (p.R988P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981708" "0" "30" "16" "2130387" "2130387" "subst" "0.000561737" "01804" "TSC2_000317" "g.2130387C>T" "" "" "" "TSC2(NM_000548.3):c.3610+9C>T, TSC2(NM_000548.5):c.3610+9C>T, TSC2(NM_001114382.2):c.3610+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981709" "0" "30" "16" "2133727" "2133727" "subst" "0.00475155" "01804" "TSC2_000091" "g.2133727G>A" "" "" "" "TSC2(NM_000548.3):c.3915G>A (p.P1305=, p.(Pro1305=)), TSC2(NM_000548.5):c.3915G>A (p.P1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981710" "0" "30" "16" "2134328" "2134328" "subst" "0.000253707" "01804" "TSC2_000558" "g.2134328C>T" "" "" "" "TSC2(NM_000548.5):c.4105C>T (p.R1369W, p.(Arg1369Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981711" "0" "30" "16" "2134359" "2134359" "subst" "2.45278E-5" "01804" "TSC2_002068" "g.2134359C>T" "" "" "" "TSC2(NM_000548.3):c.4136C>T (p.S1379L), TSC2(NM_000548.5):c.4136C>T (p.(Ser1379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981712" "0" "50" "16" "2134536" "2134536" "subst" "1.27261E-5" "02325" "TSC2_000576" "g.2134536G>A" "" "" "" "TSC2(NM_000548.5):c.4313G>A (p.R1438Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981713" "0" "90" "16" "2136215" "2136215" "del" "0" "02329" "TSC2_004807" "g.2136215del" "" "" "" "TSC2(NM_000548.5):c.4684delC (p.L1562Cfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000981714" "0" "30" "16" "2136326" "2136326" "subst" "4.07914E-5" "01804" "TSC2_003405" "g.2136326G>A" "" "" "" "TSC2(NM_000548.5):c.4795G>A (p.(Val1599Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981715" "0" "10" "16" "2136866" "2136866" "subst" "0.00524021" "01804" "TSC2_000094" "g.2136866C>T" "" "" "" "TSC2(NM_000548.3):c.4983C>T (p.T1661=, p.(Thr1661=)), TSC2(NM_000548.5):c.4983C>T (p.T1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981716" "0" "30" "16" "2140154" "2140154" "subst" "0.000220793" "02326" "PKD1_001232" "g.2140154G>T" "" "" "" "PKD1(NM_001009944.2):c.12486C>A (p.P4162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981717" "0" "70" "16" "2140364" "2140364" "subst" "0" "01804" "NTHL1_000360" "g.2140364C>T" "" "" "" "PKD1(NM_001009944.2):c.12366G>A (p.(Trp4122Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981718" "0" "30" "16" "2140568" "2140568" "subst" "0.000126676" "01804" "NTHL1_000321" "g.2140568G>A" "" "" "" "PKD1(NM_000296.3):c.12159C>T (p.(Ser4053=)), PKD1(NM_001009944.2):c.12162C>T (p.S4054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981719" "0" "30" "16" "2140826" "2140826" "subst" "0.000209607" "02326" "NTHL1_000361" "g.2140826T>C" "" "" "" "PKD1(NM_001009944.2):c.12004-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981720" "0" "30" "16" "2141101" "2141101" "subst" "0" "01804" "NTHL1_000362" "g.2141101G>A" "" "" "" "PKD1(NM_000296.3):c.11784C>T (p.(Arg3928=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981721" "0" "70" "16" "2142501" "2142501" "subst" "4.11238E-6" "01804" "PKD1_000466" "g.2142501C>T" "" "" "" "PKD1(NM_000296.3):c.11246G>A (p.(Arg3749Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981722" "0" "50" "16" "2142956" "2142956" "subst" "0" "02326" "NTHL1_000327" "g.2142956G>A" "" "" "" "PKD1(NM_001009944.2):c.11155C>T (p.R3719W), PKD1(NM_001009944.3):c.11155C>T (p.R3719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981723" "0" "50" "16" "2143589" "2143589" "subst" "0" "01804" "NTHL1_000363" "g.2143589T>C" "" "" "" "PKD1(NM_001009944.2):c.10972A>G (p.(Lys3658Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981724" "0" "70" "16" "2143596" "2143596" "subst" "0" "01804" "NTHL1_000364" "g.2143596G>T" "" "" "" "PKD1(NM_000296.3):c.10962C>A (p.(Phe3654Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981725" "0" "70" "16" "2143597" "2143597" "subst" "0" "01804" "NTHL1_000365" "g.2143597A>T" "" "" "" "PKD1(NM_001009944.2):c.10964T>A (p.(Phe3655Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981726" "0" "70" "16" "2143609" "2143609" "subst" "0" "02326" "PKD1_001492" "g.2143609C>T" "" "" "" "PKD1(NM_001009944.2):c.10952G>A (p.G3651D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981727" "0" "10" "16" "2143753" "2143753" "subst" "0.00799048" "01804" "PKD1_001508" "g.2143753G>A" "" "" "" "PKD1(NM_000296.3):c.10819-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981728" "0" "50" "16" "2143996" "2143996" "subst" "4.05145E-5" "01804" "TSC2_004758" "g.2143996C>T" "" "" "" "PKD1(NM_001009944.2):c.10637G>A (p.(Arg3546Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981729" "0" "10" "16" "2147357" "2147357" "subst" "0.00743297" "01804" "PKD1_001575" "g.2147357G>A" "" "" "" "PKD1(NM_000296.3):c.10365C>T (p.(Ala3455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981730" "0" "30" "16" "2147956" "2147956" "subst" "0.000162777" "01804" "PKD1_001033" "g.2147956G>A" "" "" "" "PKD1(NM_000296.3):c.10080C>T (p.(Ala3360=)), PKD1(NM_001009944.2):c.10080C>T (p.A3360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981731" "0" "50" "16" "2150191" "2150191" "subst" "0" "01804" "TSC2_004759" "g.2150191C>T" "" "" "" "PKD1(NM_001009944.2):c.9688G>A (p.(Val3230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981732" "0" "50" "16" "2150430" "2150430" "subst" "1.22394E-5" "02325" "TSC2_004760" "g.2150430C>T" "" "" "" "PKD1(NM_001009944.3):c.9535G>A (p.V3179M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981733" "0" "50" "16" "2150549" "2150549" "subst" "0" "01804" "PKD1_001699" "g.2150549C>A" "" "" "" "PKD1(NM_000296.3):c.9416G>T (p.(Gly3139Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981734" "0" "70" "16" "2152273" "2152273" "subst" "7.15871E-6" "01804" "PKD1_001732" "g.2152273C>T" "" "" "" "PKD1(NM_001009944.2):c.9202-16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981735" "0" "50" "16" "2152468" "2152468" "subst" "0.000213357" "01804" "TSC2_004761" "g.2152468G>T" "" "" "" "PKD1(NM_001009944.3):c.9115C>A (p.(Arg3039Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981736" "0" "90" "16" "2152957" "2152957" "subst" "0" "02326" "TSC2_004762" "g.2152957C>A" "" "" "" "PKD1(NM_001009944.2):c.8806G>T (p.E2936*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981737" "0" "30" "16" "2153391" "2153392" "ins" "0" "01804" "TSC2_004763" "g.2153391_2153392insTTGGCAGAG" "" "" "" "PKD1(NM_000296.3):c.8669_8670insTGCCAACTC (p.(Ala2894_Ser2896dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981738" "0" "50" "16" "2153422" "2153422" "subst" "0" "01804" "TSC2_004764" "g.2153422T>C" "" "" "" "PKD1(NM_001009944.3):c.8636A>G (p.(Asn2879Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981739" "0" "50" "16" "2153483" "2153483" "subst" "8.58893E-5" "01804" "TSC2_004347" "g.2153483C>T" "" "" "" "PKD1(NM_000296.3):c.8575G>A (p.(Ala2859Thr)), PKD1(NM_001009944.2):c.8575G>A (p.A2859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981740" "0" "30" "16" "2153791" "2153791" "subst" "0.000176143" "02326" "TSC2_004473" "g.2153791G>A" "" "" "" "PKD1(NM_000296.3):c.8267C>T (p.(Thr2756Ile)), PKD1(NM_001009944.2):c.8267C>T (p.T2756I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981741" "0" "70" "16" "2153868" "2153872" "dup" "0" "01804" "TSC2_004765" "g.2153868_2153872dup" "" "" "" "PKD1(NM_001009944.2):c.8186_8190dup (p.(Val2731ArgfsTer27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981742" "0" "30" "16" "2154618" "2154618" "subst" "0.000257238" "01804" "TSC2_004766" "g.2154618C>T" "" "" "" "PKD1(NM_001009944.2):c.8042G>A (p.R2681H), PKD1(NM_001009944.3):c.8042G>A (p.(Arg2681His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981743" "0" "30" "16" "2154618" "2154618" "subst" "0.000257238" "02326" "TSC2_004766" "g.2154618C>T" "" "" "" "PKD1(NM_001009944.2):c.8042G>A (p.R2681H), PKD1(NM_001009944.3):c.8042G>A (p.(Arg2681His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981744" "0" "30" "16" "2156190" "2156190" "subst" "9.96694E-5" "01804" "PKD1_001998" "g.2156190G>A" "" "" "" "PKD1(NM_000296.3):c.7605C>T (p.(Tyr2535=)), PKD1(NM_001009944.2):c.7605C>T (p.Y2535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981745" "0" "50" "16" "2156931" "2156931" "subst" "9.0843E-6" "02327" "TSC2_004767" "g.2156931G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981746" "0" "90" "16" "2157959" "2157965" "dup" "0" "02325" "PKD1_000124" "g.2157959_2157965dup" "" "" "" "PKD1(NM_001009944.2):c.7000_7001insGCTGGCG (p.(Val2334Glyfs*88)), PKD1(NM_001009944.3):c.6994_7000dupGCTGGCG (p.V2334Gfs*88)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981747" "0" "50" "16" "2158275" "2158275" "subst" "0" "01804" "TSC2_004768" "g.2158275C>G" "" "" "" "PKD1(NM_001009944.2):c.6893G>C (p.(Trp2298Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981748" "0" "30" "16" "2158376" "2158376" "subst" "0.000114393" "01804" "PKD1_002135" "g.2158376T>G" "" "" "" "PKD1(NM_000296.3):c.6792A>C (p.(=)), PKD1(NM_001009944.2):c.6792A>C (p.S2264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981749" "0" "30" "16" "2158958" "2158958" "subst" "6.37554E-5" "01804" "TSC2_004769" "g.2158958G>A" "" "" "" "PKD1(NM_001009944.2):c.6210C>T (p.(Pro2070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981750" "0" "30" "16" "2159642" "2159642" "subst" "0.000144357" "02326" "TSC2_004770" "g.2159642G>A" "" "" "" "PKD1(NM_001009944.2):c.5526C>T (p.P1842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981751" "0" "90" "16" "2160371" "2160371" "subst" "0" "01804" "PKD1_000873" "g.2160371G>T" "" "" "" "PKD1(NM_001009944.2):c.4797C>A (p.(Tyr1599Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981752" "0" "70" "16" "2160780" "2160780" "subst" "0" "01804" "TSC2_004693" "g.2160780T>G" "" "" "" "PKD1(NM_001009944.2):c.4388A>C (p.(Gln1463Pro)), PKD1(NM_001009944.3):c.4388A>C (p.Q1463P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981753" "0" "30" "16" "2161117" "2161117" "subst" "0.0012075" "01804" "PKD1_000302" "g.2161117G>A" "" "" "" "PKD1(NM_000296.3):c.4051C>T (p.(Arg1351Trp)), PKD1(NM_001009944.2):c.4051C>T (p.R1351W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981754" "0" "90" "16" "2161561" "2161561" "subst" "0" "02326" "PKD1_002935" "g.2161561G>A" "" "" "" "PKD1(NM_001009944.2):c.3607C>T (p.Q1203*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981755" "0" "50" "16" "2161872" "2161872" "subst" "6.23006E-5" "01804" "TSC2_004771" "g.2161872C>T" "" "" "" "PKD1(NM_000296.3):c.3296G>A (p.(Gly1099Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981756" "0" "70" "16" "2162356" "2162359" "dup" "0" "01804" "TSC2_004772" "g.2162356_2162359dup" "" "" "" "PKD1(NM_001009944.2):c.3278_3281dup (p.(Tyr1095HisfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981757" "0" "30" "16" "2162408" "2162408" "subst" "0.000330681" "01804" "PKD1_002482" "g.2162408C>T" "" "" "" "PKD1(NM_000296.3):c.3228G>A (p.(Pro1076=)), PKD1(NM_001009944.2):c.3228G>A (p.P1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981758" "0" "30" "16" "2164317" "2164317" "subst" "0.000294864" "01804" "PKD1_002558" "g.2164317T>C" "" "" "" "PKD1(NM_000296.3):c.2707A>G (p.(Ser903Gly)), PKD1(NM_001009944.2):c.2707A>G (p.S903G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981759" "0" "30" "16" "2164317" "2164317" "subst" "0.000294864" "02326" "PKD1_002558" "g.2164317T>C" "" "" "" "PKD1(NM_000296.3):c.2707A>G (p.(Ser903Gly)), PKD1(NM_001009944.2):c.2707A>G (p.S903G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981760" "0" "30" "16" "2164702" "2164702" "subst" "0.000128574" "01804" "TSC2_004617" "g.2164702G>A" "" "" "" "PKD1(NM_000296.3):c.2322C>T (p.(Ala774=)), PKD1(NM_001009944.2):c.2322C>T (p.A774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981761" "0" "70" "16" "2165538" "2165538" "subst" "0" "01804" "TSC2_004773" "g.2165538C>T" "" "" "" "PKD1(NM_001009944.2):c.1938G>A (p.(Trp646Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981762" "0" "70" "16" "2166011" "2166011" "subst" "0" "01804" "PKD1_000305" "g.2166011G>A" "" "" "" "PKD1(NM_001009944.2):c.1831C>T (p.(Arg611Trp), p.R611W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981763" "0" "30" "16" "2167549" "2167549" "subst" "0.000204405" "02326" "PKD1_002715" "g.2167549G>A" "" "" "" "PKD1(NM_001009944.2):c.1326C>T (p.A442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981764" "0" "50" "16" "2167831" "2167831" "subst" "0.000113849" "01804" "PKD1_000858" "g.2167831C>T" "" "" "" "PKD1(NM_001009944.2):c.1162G>A (p.A388T), PKD1(NM_001009944.3):c.1162G>A (p.(Ala388Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981765" "0" "90" "16" "2169114" "2169114" "subst" "0" "01804" "PKD1_002792" "g.2169114C>T" "" "" "" "PKD1(NM_001009944.2):c.359+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981766" "0" "30" "16" "2169206" "2169206" "subst" "6.4048E-5" "02326" "TSC2_004774" "g.2169206C>T" "" "" "" "PKD1(NM_001009944.2):c.288-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981769" "0" "50" "16" "2185569" "2185569" "subst" "0" "02327" "PKD1_000762" "g.2185569G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987744" "0" "90" "16" "2149878" "2149879" "ins" "0" "03779" "PKD1_002941" "g.2149878_2149879insTACAGACTCTGTAGGCAGAGTCGCC" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000989940" "1" "90" "16" "2147766" "2147766" "subst" "4.0705E-6" "00006" "PKD1_000110" "g.2147766G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2097765G>A" "" "pathogenic" "" "0000989941" "1" "90" "16" "2147766" "2147766" "subst" "4.0705E-6" "00006" "PKD1_000110" "g.2147766G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2,PP3" "Germline" "" "" "0" "" "" "g.2097765G>A" "" "pathogenic" "" "0000989942" "0" "90" "16" "2161103" "2161127" "del" "0" "00006" "PKD1_002952" "g.2161103_2161127del" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111102_2111126del" "" "pathogenic" "" "0000989943" "0" "70" "16" "2152818" "2152818" "subst" "4.09991E-6" "00006" "PKD1_002947" "g.2152818G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2102817G>A" "" "likely pathogenic" "" "0000989944" "1" "90" "16" "2161376" "2161376" "subst" "0" "00006" "PKD1_002954" "g.2161376G>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2111375G>C" "" "pathogenic" "" "0000989945" "1" "90" "16" "2161376" "2161376" "subst" "0" "00006" "PKD1_002954" "g.2161376G>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2111375G>C" "" "pathogenic" "" "0000989946" "1" "90" "16" "2165396" "2165396" "dup" "0" "00006" "PKD1_000138" "g.2165396dup" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.2115395dup" "" "pathogenic" "" "0000989947" "1" "90" "16" "2165396" "2165396" "dup" "0" "00006" "PKD1_000138" "g.2165396dup" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.2115395dup" "" "pathogenic" "" "0000989948" "11" "90" "16" "2140186" "2140186" "subst" "0" "00006" "PKD1_002942" "g.2140186T>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2090185T>A" "" "pathogenic" "" "0000989949" "21" "90" "16" "2140186" "2140186" "subst" "0" "00006" "PKD1_002942" "g.2140186T>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2,PP3" "Germline" "" "" "0" "" "" "g.2090185T>A" "" "pathogenic" "" "0000989950" "0" "70" "16" "2158326" "2158326" "subst" "0" "00006" "PKD1_002951" "g.2158326G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108325G>A" "" "likely pathogenic" "" "0000989951" "0" "70" "16" "2153746" "2153746" "subst" "0" "00006" "PKD1_002948" "g.2153746T>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PM5, PP4, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103745T>A" "" "likely pathogenic" "" "0000989952" "1" "90" "16" "2140311" "2140311" "subst" "0" "00006" "PKD1_002943" "g.2140311C>T" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2090310C>T" "" "pathogenic" "" "0000989953" "1" "90" "16" "2140311" "2140311" "subst" "0" "00006" "PKD1_002943" "g.2140311C>T" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.2090310C>T" "" "pathogenic" "" "0000989954" "1" "70" "16" "2164437" "2164437" "del" "0" "00006" "PKD1_002955" "g.2164437del" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.2114436del" "" "likely pathogenic" "" "0000989955" "1" "70" "16" "2164437" "2164437" "del" "0" "00006" "PKD1_002955" "g.2164437del" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.2114436del" "" "likely pathogenic" "" "0000989956" "0" "90" "16" "2158443" "2158444" "del" "0" "00006" "PKD1_000125" "g.2158443_2158444del" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PP5, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2108442_2108443del" "" "pathogenic" "" "0000989957" "0" "70" "16" "2156404" "2156404" "subst" "0" "00006" "PKD1_002950" "g.2156404C>T" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PM5, PM1, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2106403C>T" "" "likely pathogenic" "" "0000989958" "0" "90" "16" "2168019" "2168019" "subst" "0" "00006" "PKD1_000408" "g.2168019T>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PP5, PM2, PP2" "Germline/De novo (untested)" "" "" "0" "" "" "g.2118018T>C" "" "pathogenic" "" "0000989959" "11" "90" "16" "2143893" "2143893" "dup" "0" "00006" "PKD1_001521" "g.2143893dup" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1,PP5,PM2" "Germline" "" "" "0" "" "" "g.2093892dup" "" "pathogenic" "" "0000989960" "1" "90" "16" "2143893" "2143893" "dup" "0" "00006" "PKD1_001521" "g.2143893dup" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.2093892dup" "" "pathogenic" "" "0000989961" "0" "90" "16" "2141858" "2141858" "subst" "0" "00006" "PKD1_000071" "g.2141858G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.2091857G>A" "" "pathogenic" "" "0000989962" "0" "70" "16" "2153776" "2153776" "subst" "9.83155E-5" "00006" "PKD1_001886" "g.2153776C>T" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103775C>T" "" "likely pathogenic" "" "0000989963" "21" "70" "16" "2156179" "2156179" "subst" "0" "00006" "PKD1_002949" "g.2156179A>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM1,PM2,PP2,PP4,PP3" "Germline" "" "" "0" "" "" "g.2106178A>C" "" "likely pathogenic" "" "0000989964" "0" "50" "16" "2161276" "2161276" "subst" "0" "00006" "PKD1_002953" "g.2161276G>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.2111275G>C" "" "VUS" "" "0000989965" "0" "50" "16" "2165395" "2165395" "subst" "0" "00006" "PKD1_001098" "g.2165395G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG BP6" "Germline/De novo (untested)" "" "" "0" "" "" "g.2115394G>A" "" "VUS" "" "0000989966" "0" "50" "16" "2143547" "2143547" "subst" "0" "00006" "PKD1_002878" "g.2143547G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2093546G>A" "" "VUS" "" "0000989967" "1" "50" "16" "2141560" "2141560" "subst" "0" "00006" "PKD1_002945" "g.2141560G>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.2091559G>C" "" "VUS" "" "0000989968" "1" "50" "16" "2141560" "2141560" "subst" "0" "00006" "PKD1_002945" "g.2141560G>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.2091559G>C" "" "VUS" "" "0000989969" "0" "50" "16" "2140716" "2140716" "subst" "1.64596E-5" "00006" "PKD1_002944" "g.2140716G>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090715G>C" "" "VUS" "" "0000989970" "0" "90" "16" "2153444" "2153444" "del" "0" "00006" "PKD1_001837" "g.2153444del" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1,PM2,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.2103443del" "" "pathogenic" "" "0000989971" "0" "50" "16" "2142084" "2142084" "subst" "1.23522E-5" "00006" "PKD1_002946" "g.2142084G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.2092083G>A" "" "VUS" "" "0000989972" "0" "90" "16" "2140803" "2140803" "subst" "4.16063E-6" "00006" "PKD1_000269" "g.2140803G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1,PM2,PS4" "Germline/De novo (untested)" "" "" "0" "" "" "g.2090802G>A" "" "pathogenic" "" "0001002013" "0" "50" "16" "2096209" "2096209" "subst" "0.000934762" "02329" "NTHL1_000006" "g.2096209G>A" "" "" "" "NTHL1(NM_002528.7):c.274C>T (p.R92C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002017" "0" "30" "16" "2100518" "2100519" "del" "0" "02329" "TSC2_000893" "g.2100518_2100519del" "" "" "" "TSC2(NM_000548.3):c.225+31_225+32delAG, TSC2(NM_000548.5):c.225+31_225+32delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002018" "0" "50" "16" "2104312" "2104312" "subst" "0" "01804" "NTHL1_000366" "g.2104312G>A" "" "" "" "TSC2(NM_000548.3):c.352G>A (p.(Val118Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002019" "0" "30" "16" "2105459" "2105459" "subst" "1.62422E-5" "02326" "TSC2_000616" "g.2105459C>G" "" "" "" "TSC2(NM_000548.3):c.538C>G (p.L180V), TSC2(NM_000548.5):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002022" "0" "30" "16" "2112553" "2112553" "subst" "0" "01804" "NTHL1_000367" "g.2112553A>G" "" "" "" "TSC2(NM_000548.3):c.1313A>G (p.(Lys438Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002024" "0" "30" "16" "2124318" "2124318" "subst" "8.1416E-6" "01804" "NTHL1_000368" "g.2124318G>C" "" "" "" "TSC2(NM_000548.3):c.2473G>C (p.(Val825Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002025" "0" "50" "16" "2127658" "2127658" "subst" "0" "02329" "NTHL1_000369" "g.2127658T>C" "" "" "" "TSC2(NM_000548.5):c.2897T>C (p.F966S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002026" "0" "50" "16" "2129397" "2129397" "subst" "0" "01804" "TSC2_000112" "g.2129397C>G" "" "" "" "TSC2(NM_000548.3):c.3252C>G (p.(Asp1084Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002027" "0" "30" "16" "2130198" "2130198" "subst" "0.00024421" "01804" "TSC2_001198" "g.2130198G>A" "" "" "" "TSC2(NM_000548.3):c.3430G>A (p.V1144M, p.(Val1144Met)), TSC2(NM_000548.5):c.3430G>A (p.V1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002028" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "02326" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001002029" "0" "30" "16" "2134521" "2134521" "subst" "0" "01804" "TSC2_001875" "g.2134521C>G" "" "" "" "TSC2(NM_000548.3):c.4298C>G (p.(Ser1433Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002030" "0" "30" "16" "2135003" "2135003" "subst" "0" "01804" "NTHL1_000370" "g.2135003C>G" "" "" "" "TSC2(NM_000548.3):c.4545C>G (p.(Asn1515Lys)), TSC2(NM_000548.5):c.4545C>G (p.N1515K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002031" "0" "50" "16" "2136746" "2136746" "subst" "0" "01804" "TSC2_001813" "g.2136746C>G" "" "" "" "TSC2(NM_000548.3):c.4863C>G (p.(Ile1621Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002032" "0" "10" "16" "2137891" "2137891" "subst" "0.000497204" "02325" "TSC2_000724" "g.2137891G>C" "" "" "" "TSC2(NM_000548.3):c.5017G>C (p.V1673L, p.(Val1673Leu)), TSC2(NM_000548.5):c.5017G>C (p.V1673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001002033" "0" "50" "16" "2137909" "2137909" "subst" "6.92707E-5" "02329" "TSC2_002078" "g.2137909G>A" "" "" "" "TSC2(NM_000548.5):c.5035G>A (p.E1679K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002034" "0" "50" "16" "2138072" "2138072" "subst" "1.22109E-5" "01804" "NTHL1_000371" "g.2138072A>C" "" "" "" "TSC2(NM_000548.3):c.5092A>C (p.(Ser1698Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002035" "0" "70" "16" "2140320" "2140320" "subst" "0" "01804" "PKD1_000318" "g.2140320A>G" "" "" "" "PKD1(NM_001009944.2):c.12410T>C (p.(Leu4137Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002036" "0" "30" "16" "2140448" "2140448" "subst" "4.15496E-6" "01804" "NTHL1_000372" "g.2140448C>T" "" "" "" "PKD1(NM_000296.3):c.12279G>A (p.(Arg4093=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002037" "0" "50" "16" "2140533" "2140533" "subst" "2.10986E-5" "02326" "NTHL1_000373" "g.2140533C>T" "" "" "" "PKD1(NM_001009944.2):c.12197G>A (p.C4066Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002038" "0" "50" "16" "2142112" "2142112" "subst" "0" "01804" "NTHL1_000374" "g.2142112C>G" "" "" "" "PKD1(NM_001009944.2):c.11347G>C (p.(Val3783Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002040" "0" "50" "16" "2142562" "2142562" "subst" "0" "01804" "NTHL1_000375" "g.2142562C>T" "" "" "" "PKD1(NM_001009944.2):c.11188G>A (p.(Val3730Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002041" "0" "90" "16" "2143104" "2143104" "subst" "0" "02326" "PKD1_001475" "g.2143104G>T" "" "" "" "PKD1(NM_001009944.2):c.11017-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002042" "0" "90" "16" "2144120" "2144147" "del" "0" "01804" "TSC2_004786" "g.2144120_2144147del" "" "" "" "PKD1(NM_001009944.2):c.10569_10596del (p.(Ser3523ArgfsTer53))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002043" "0" "50" "16" "2147320" "2147320" "subst" "0" "01804" "TSC2_004787" "g.2147320C>G" "" "" "" "PKD1(NM_001009944.2):c.10405G>C (p.(Asp3469His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002044" "0" "30" "16" "2147475" "2147475" "subst" "5.08526E-5" "01804" "TSC2_004788" "g.2147475G>A" "" "" "" "PKD1(NM_001009944.2):c.10250C>T (p.(Thr3417Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002045" "0" "50" "16" "2147791" "2147791" "subst" "4.07057E-6" "01804" "TSC2_004789" "g.2147791G>A" "" "" "" "PKD1(NM_000296.3):c.10168-13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002046" "0" "30" "16" "2149738" "2149738" "subst" "0.00341381" "01804" "PKD1_000771" "g.2149738G>A" "" "" "" "PKD1(NM_000296.3):c.9957C>T (p.(Ser3319=)), PKD1(NM_001009944.2):c.9957C>T (p.S3319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002047" "0" "30" "16" "2149857" "2149857" "subst" "1.84618E-5" "01804" "TSC2_004790" "g.2149857C>T" "" "" "" "PKD1(NM_001009944.2):c.9923+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002048" "0" "70" "16" "2150461" "2150461" "subst" "0" "01804" "PKD1_000342" "g.2150461G>C" "" "" "" "PKD1(NM_001009944.2):c.9504C>G (p.(Phe3168Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002049" "0" "30" "16" "2153464" "2153464" "subst" "0.000194524" "02326" "PKD1_002926" "g.2153464C>T" "" "" "" "PKD1(NM_001009944.2):c.8594G>A (p.R2865Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002050" "0" "50" "16" "2155330" "2155330" "subst" "0" "01804" "TSC2_004373" "g.2155330T>C" "" "" "" "PKD1(NM_001009944.2):c.8009A>G (p.Q2670R, p.(Gln2670Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002051" "0" "50" "16" "2155888" "2155888" "subst" "4.37675E-6" "01804" "TSC2_004791" "g.2155888G>A" "" "" "" "PKD1(NM_001009944.2):c.7841C>T (p.(Ala2614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002052" "0" "30" "16" "2155984" "2155984" "subst" "0" "01804" "PKD1_001978" "g.2155984G>A" "" "" "" "PKD1(NM_001009944.2):c.7745C>T (p.(Thr2582Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002053" "0" "30" "16" "2156228" "2156228" "subst" "4.56625E-5" "01804" "TSC2_004410" "g.2156228C>T" "" "" "" "PKD1(NM_001009944.2):c.7567G>A (p.E2523K, p.(Glu2523Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002054" "0" "30" "16" "2158300" "2158300" "subst" "8.31034E-6" "01804" "TSC2_004792" "g.2158300C>T" "" "" "" "PKD1(NM_001009944.2):c.6868G>A (p.(Asp2290Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002055" "0" "30" "16" "2158728" "2158728" "subst" "2.31257E-5" "01804" "TSC2_004793" "g.2158728C>T" "" "" "" "PKD1(NM_001009944.2):c.6440G>A (p.(Arg2147Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002056" "0" "90" "16" "2158996" "2158996" "subst" "0" "01804" "PKD1_002199" "g.2158996G>A" "" "" "" "PKD1(NM_001009944.2):c.6172C>T (p.(Gln2058Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002057" "0" "90" "16" "2159606" "2159606" "del" "0" "01804" "TSC2_004794" "g.2159606del" "" "" "" "PKD1(NM_001009944.2):c.5563del (p.(Val1855SerfsTer94))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002058" "0" "50" "16" "2159670" "2159670" "subst" "0" "01804" "TSC2_004795" "g.2159670G>A" "" "" "" "PKD1(NM_001009944.2):c.5498C>T (p.(Thr1833Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002059" "0" "30" "16" "2159850" "2159850" "subst" "0.00228715" "01804" "PKD1_000841" "g.2159850G>A" "" "" "" "PKD1(NM_001009944.2):c.5318C>T (p.T1773I, p.(Thr1773Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002060" "0" "30" "16" "2160462" "2160462" "subst" "0" "01804" "TSC2_004796" "g.2160462C>T" "" "" "" "PKD1(NM_001009944.2):c.4706G>A (p.(Ser1569Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002061" "0" "30" "16" "2160498" "2160498" "subst" "1.63559E-5" "01804" "TSC2_004797" "g.2160498C>T" "" "" "" "PKD1(NM_001009944.2):c.4670G>A (p.(Arg1557His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002062" "0" "90" "16" "2160617" "2160617" "subst" "0" "01804" "PKD1_000659" "g.2160617G>T" "" "" "" "PKD1(NM_001009944.2):c.4551C>A (p.(Tyr1517*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002063" "0" "90" "16" "2161427" "2161427" "del" "0" "01804" "TSC2_004798" "g.2161427del" "" "" "" "PKD1(NM_001009944.2):c.3745del (p.(Asp1249ThrfsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002064" "0" "50" "16" "2161446" "2161446" "subst" "0" "01804" "TSC2_004799" "g.2161446A>C" "" "" "" "PKD1(NM_000296.3):c.3722T>G (p.(Ile1241Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002065" "0" "30" "16" "2161824" "2161824" "subst" "0.000319012" "01804" "TSC2_004800" "g.2161824G>A" "" "" "" "PKD1(NM_001009944.2):c.3344C>T (p.(Thr1115Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002066" "0" "50" "16" "2164321" "2164321" "subst" "0" "01804" "TSC2_004801" "g.2164321C>A" "" "" "" "PKD1(NM_001009944.2):c.2703G>T (p.(Trp901Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002067" "0" "50" "16" "2164677" "2164677" "subst" "0" "01804" "PKD1_000684" "g.2164677C>T" "" "" "" "PKD1(NM_000296.3):c.2347G>A (p.(Gly783Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002068" "0" "50" "16" "2166837" "2166837" "subst" "3.0298E-5" "02325" "TSC2_004802" "g.2166837C>T" "" "" "" "PKD1(NM_001009944.3):c.1603G>A (p.G535R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002069" "0" "90" "16" "2167567" "2167567" "dup" "0" "01804" "TSC2_004803" "g.2167567dup" "" "" "" "PKD1(NM_001009944.2):c.1308dup (p.(Gln437SerfsTer82))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001002070" "0" "70" "16" "2167616" "2167616" "subst" "0" "01804" "PKD1_000308" "g.2167616T>C" "" "" "" "PKD1(NM_001009944.2):c.1259A>G (p.(Tyr420Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002071" "0" "30" "16" "2168022" "2168022" "subst" "0.00256961" "02325" "PKD1_000054" "g.2168022C>A" "" "" "" "PKD1(NM_000296.3):c.971G>T (p.(Arg324Leu)), PKD1(NM_001009944.2):c.971G>T (p.R324L), PKD1(NM_001009944.3):c.971G>T (p.R324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002072" "0" "50" "16" "2168096" "2168097" "del" "0" "01804" "TSC2_004804" "g.2168096_2168097del" "" "" "" "PKD1(NM_001009944.2):c.896_897delCT (p.(Pro299fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002073" "0" "70" "16" "2168304" "2168304" "subst" "0" "01804" "TSC2_004805" "g.2168304C>T" "" "" "" "PKD1(NM_001009944.2):c.689G>A (p.(Cys230Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002074" "0" "50" "16" "2168454" "2168454" "subst" "0" "02326" "TSC2_004806" "g.2168454T>C" "" "" "" "PKD1(NM_001009944.2):c.539A>G (p.Y180C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007036" "0" "90" "16" "2185612" "2185622" "del" "0" "03544" "PKD1_002956" "g.2185612_2185622del" "" "" "" "69_79del" "" "Germline" "yes" "" "0" "" "" "g.2135611_2135621del" "{CV:3374704}" "pathogenic" "ACMG" "0001007058" "0" "70" "16" "2166012" "2166012" "subst" "0" "03544" "PKD1_002957" "g.2166012G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2116011G>C" "{CV:3374738}" "likely pathogenic" "ACMG" "0001007544" "0" "70" "16" "2141560" "2141560" "subst" "0" "00006" "PKD1_002958" "g.2141560G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001009944.3:c.11576G>A" "" "Germline" "" "" "0" "" "" "g.2091559G>A" "" "VUS" "" "0001015314" "0" "50" "16" "2093737" "2093738" "del" "0.000172461" "02329" "NTHL1_000232" "g.2093737_2093738del" "" "" "" "NTHL1(NM_002528.7):c.526-11_526-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015315" "0" "90" "16" "2098752" "2098755" "del" "0" "02326" "NTHL1_000376" "g.2098752_2098755del" "" "" "" "TSC2(NM_000548.3):c.135_138delGAGA (p.R46Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015316" "0" "30" "16" "2104425" "2104425" "subst" "5.27893E-5" "02330" "TSC2_002122" "g.2104425C>T" "" "" "" "TSC2(NM_000548.3):c.465C>T (p.Y155=), TSC2(NM_000548.5):c.465C>T (p.Y155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015317" "0" "50" "16" "2105459" "2105459" "subst" "1.62422E-5" "02329" "TSC2_000616" "g.2105459C>G" "" "" "" "TSC2(NM_000548.3):c.538C>G (p.L180V), TSC2(NM_000548.5):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015318" "0" "90" "16" "2120533" "2120533" "subst" "0" "02329" "TSC2_000421" "g.2120533A>G" "" "" "" "TSC2(NM_000548.3):c.1793A>G (p.Y598C), TSC2(NM_000548.5):c.1793A>G (p.Y598C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015319" "0" "90" "16" "2120571" "2120571" "subst" "0" "02325" "TSC2_000053" "g.2120571C>T" "" "" "" "TSC2(NM_000548.3):c.1831C>T (p.R611W), TSC2(NM_000548.5):c.1831C>T (p.R611W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015320" "0" "50" "16" "2121785" "2121785" "subst" "1.29867E-5" "02325" "NTHL1_000377" "g.2121785G>A" "" "" "" "TSC2(NM_000548.5):c.1947G>A (p.M649I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015321" "0" "10" "16" "2124296" "2124296" "subst" "0.000948172" "02330" "TSC2_002359" "g.2124296C>T" "" "" "" "TSC2(NM_000548.3):c.2451C>T (p.D817=), TSC2(NM_000548.5):c.2451C>T (p.D817=), TSC2(NM_001114382.2):c.2451C>T (p.D817=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015322" "0" "30" "16" "2131755" "2131755" "subst" "0.00029353" "02329" "TSC2_000533" "g.2131755C>T" "" "" "" "TSC2(NM_000548.5):c.3770C>T (p.A1257V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015323" "0" "70" "16" "2131800" "2131800" "subst" "0" "02327" "NTHL1_000378" "g.2131800G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015324" "0" "30" "16" "2132449" "2132449" "subst" "0.000321674" "02329" "TSC2_000538" "g.2132449C>T" "" "" "" "TSC2(NM_000548.5):c.3827C>T (p.S1276F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015325" "0" "50" "16" "2133711" "2133711" "subst" "0" "02329" "NTHL1_000379" "g.2133711T>A" "" "" "" "TSC2(NM_000548.5):c.3899T>A (p.M1300K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015326" "0" "30" "16" "2133769" "2133769" "subst" "2.49781E-5" "02329" "NTHL1_000380" "g.2133769C>T" "" "" "" "TSC2(NM_000548.5):c.3957C>T (p.D1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015327" "0" "10" "16" "2134230" "2134230" "subst" "0.000136486" "02330" "TSC2_002743" "g.2134230C>T" "" "" "" "TSC2(NM_000548.5):c.4007C>T (p.S1336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015328" "0" "30" "16" "2134692" "2134692" "subst" "0.00019249" "02325" "TSC2_001291" "g.2134692A>G" "" "" "" "TSC2(NM_000548.5):c.4469A>G (p.E1490G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015329" "0" "30" "16" "2134723" "2134723" "subst" "0.000180369" "02329" "TSC2_002894" "g.2134723C>A" "" "" "" "TSC2(NM_000548.3):c.4493+7C>A, TSC2(NM_000548.5):c.4493+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015330" "0" "30" "16" "2136896" "2136896" "subst" "0" "02329" "NTHL1_000381" "g.2136896G>T" "" "" "" "TSC2(NM_000548.5):c.4989+24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015331" "0" "30" "16" "2138200" "2138203" "del" "0" "02329" "TSC2_000307" "g.2138200_2138203del" "" "" "" "TSC2(NM_000548.3):c.5161-28_5161-25delTGAG, TSC2(NM_000548.5):c.5161-28_5161-25delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015332" "0" "30" "16" "2138518" "2138518" "subst" "8.15069E-6" "02330" "TSC2_002322" "g.2138518T>C" "" "" "" "TSC2(NM_000548.3):c.5331T>C (p.P1777=), TSC2(NM_000548.5):c.5331T>C (p.P1777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015334" "0" "30" "16" "2142488" "2142488" "subst" "0.00494176" "01804" "PKD1_001438" "g.2142488C>G" "" "" "" "PKD1(NM_000296.3):c.11259G>C (p.(Leu3753=)), PKD1(NM_001009944.2):c.11262G>C (p.L3754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015335" "0" "50" "16" "2143641" "2143641" "subst" "0.000194691" "02327" "NTHL1_000306" "g.2143641G>A" "" "" "" "PKD1(NM_000296.3):c.10917C>T (p.(Ser3639=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015336" "0" "50" "16" "2144114" "2144114" "subst" "0" "01804" "TSC2_004814" "g.2144114C>A" "" "" "" "PKD1(NM_001009944.2):c.10597G>T (p.(Ala3533Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015337" "0" "30" "16" "2147201" "2147201" "subst" "0.000140499" "02326" "TSC2_004815" "g.2147201T>G" "" "" "" "PKD1(NM_001009944.2):c.10447A>C (p.S3483R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015338" "0" "50" "16" "2147463" "2147463" "subst" "5.06308E-5" "01804" "TSC2_004816" "g.2147463G>A" "" "" "" "PKD1(NM_000296.3):c.10259C>T (p.(Pro3420Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015339" "0" "90" "16" "2147949" "2147949" "subst" "0" "01804" "PKD1_001610" "g.2147949G>A" "" "" "" "PKD1(NM_000296.3):c.10087C>T (p.(Gln3363Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015340" "0" "70" "16" "2149956" "2149956" "subst" "0.000155417" "02325" "PKD1_000439" "g.2149956G>A" "" "" "" "PKD1(NM_000296.3):c.9829C>T (p.(Arg3277Cys)), PKD1(NM_001009944.2):c.9829C>T (p.R3277C), PKD1(NM_001009944.3):c.9829C>T (p.R3277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015341" "0" "70" "16" "2149984" "2149984" "subst" "0" "01804" "PKD1_001642" "g.2149984C>T" "" "" "" "PKD1(NM_001009944.2):c.9801G>A (p.(Trp3267Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015342" "0" "50" "16" "2152405" "2152405" "subst" "2.57354E-5" "02327" "TSC2_004817" "g.2152405T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015343" "0" "30" "16" "2152472" "2152472" "subst" "0.000618079" "01804" "PKD1_001746" "g.2152472C>T" "" "" "" "PKD1(NM_000296.3):c.9111G>A (p.(Ser3037=)), PKD1(NM_001009944.2):c.9111G>A (p.S3037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015344" "0" "30" "16" "2153396" "2153396" "subst" "3.89075E-5" "01804" "TSC2_004818" "g.2153396G>A" "" "" "" "PKD1(NM_000296.3):c.8662C>T (p.(Arg2888Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015345" "0" "90" "16" "2153588" "2153588" "subst" "0" "02326" "TSC2_004819" "g.2153588G>A" "" "" "" "PKD1(NM_001009944.2):c.8470C>T (p.Q2824*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015346" "0" "70" "16" "2153611" "2153611" "subst" "0" "01804" "PKD1_000115" "g.2153611A>G" "" "" "" "PKD1(NM_001009944.2):c.8447T>C (p.(Leu2816Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015347" "0" "50" "16" "2153698" "2153698" "subst" "0" "02327" "TSC2_004820" "g.2153698C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015348" "0" "90" "16" "2154604" "2154604" "subst" "0" "01804" "PKD1_000287" "g.2154604G>A" "" "" "" "PKD1(NM_001009944.2):c.8056C>T (p.(Gln2686Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015349" "0" "30" "16" "2155853" "2155853" "subst" "0.00231514" "01804" "TSC2_004484" "g.2155853A>G" "" "" "" "PKD1(NM_000296.3):c.7863+13T>C (p.(=)), PKD1(NM_001009944.2):c.7863+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015350" "0" "70" "16" "2156620" "2156620" "subst" "0" "01804" "TSC2_004821" "g.2156620G>T" "" "" "" "PKD1(NM_001009944.2):c.7268C>A (p.(Ser2423Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015351" "0" "50" "16" "2158944" "2158944" "subst" "6.5661E-5" "01804" "PKD1_002193" "g.2158944C>T" "" "" "" "PKD1(NM_001009944.2):c.6224G>A (p.(Arg2075His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015352" "0" "30" "16" "2159321" "2159321" "subst" "0.00655809" "01804" "PKD1_002234" "g.2159321G>A" "" "" "" "PKD1(NM_000296.3):c.5847C>T (p.(Ser1949=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015353" "0" "90" "16" "2160372" "2160372" "dup" "0" "02326" "TSC2_004822" "g.2160372dup" "" "" "" "PKD1(NM_001009944.2):c.4796dupA (p.Y1599*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015354" "0" "30" "16" "2160866" "2160866" "subst" "0.00246149" "01804" "PKD1_002370" "g.2160866G>A" "" "" "" "PKD1(NM_000296.3):c.4302C>T (p.(Ile1434=)), PKD1(NM_001009944.2):c.4302C>T (p.I1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015356" "0" "70" "16" "2161678" "2161678" "subst" "0" "02326" "TSC2_004823" "g.2161678C>T" "" "" "" "PKD1(NM_001009944.2):c.3490G>A (p.G1164R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015357" "0" "90" "16" "2166833" "2166833" "subst" "0" "02326" "PKD1_002685" "g.2166833C>T" "" "" "" "PKD1(NM_001009944.2):c.1606+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015358" "0" "70" "16" "2167852" "2167852" "subst" "0" "01804" "PKD1_000405" "g.2167852C>T" "" "" "" "PKD1(NM_001009944.2):c.1141G>A (p.(Gly381Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001017945" "0" "70" "16" "2140207" "2140207" "subst" "0" "01164" "PKD1_002959" "g.2140207A>T" "" "" "" "" "PS2, PM2_SUP, PP3" "De novo" "-" "" "" "" "" "g.2090206A>T" "" "likely pathogenic (dominant)" "ACMG" "0001022096" "0" "50" "16" "2159338" "2159338" "subst" "0.00018048" "04796" "PKD1_001074" "g.2159338C>T" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.2109337C>T" "" "VUS" "" "0001026585" "0" "30" "16" "2094602" "2094602" "subst" "4.27091E-5" "02329" "NTHL1_000383" "g.2094602C>T" "" "" "" "NTHL1(NM_002528.7):c.525+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026586" "0" "10" "16" "2103389" "2103389" "subst" "0.000903667" "02329" "TSC2_000346" "g.2103389C>T" "" "" "" "TSC2(NM_000548.3):c.272C>T (p.P91L), TSC2(NM_000548.5):c.272C>T (p.P91L), TSC2(NM_001370404.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026587" "0" "50" "16" "2105459" "2105459" "subst" "1.62422E-5" "02327" "TSC2_000616" "g.2105459C>G" "" "" "" "TSC2(NM_000548.3):c.538C>G (p.L180V), TSC2(NM_000548.5):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026588" "0" "50" "16" "2105484" "2105484" "subst" "0" "02326" "NTHL1_000384" "g.2105484G>A" "" "" "" "TSC2(NM_000548.3):c.563G>A (p.S188N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026589" "0" "30" "16" "2106616" "2106616" "subst" "0.000187924" "02329" "TSC2_003053" "g.2106616C>T" "" "" "" "TSC2(NM_000548.5):c.649-29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026590" "0" "30" "16" "2108882" "2108882" "subst" "5.17273E-5" "02329" "TSC2_001129" "g.2108882G>A" "" "" "" "TSC2(NM_000548.5):c.975+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026591" "0" "30" "16" "2112017" "2112017" "subst" "1.62845E-5" "02326" "NTHL1_000385" "g.2112017C>A" "" "" "" "TSC2(NM_000548.3):c.1257+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026592" "0" "30" "16" "2112948" "2112948" "subst" "0" "02329" "NTHL1_000386" "g.2112948G>A" "" "" "" "TSC2(NM_000548.5):c.1362-25G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026593" "0" "50" "16" "2112977" "2112977" "subst" "2.7019E-5" "02325" "TSC2_002017" "g.2112977G>A" "" "" "" "TSC2(NM_000548.3):c.1366G>A (p.E456K), TSC2(NM_000548.5):c.1366G>A (p.E456K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026594" "0" "30" "16" "2115498" "2115499" "dup" "0" "02329" "NTHL1_000387" "g.2115498_2115499dup" "" "" "" "TSC2(NM_000548.5):c.1600-22_1600-21dupAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026595" "0" "10" "16" "2121617" "2121617" "subst" "0.000317903" "02329" "TSC2_000429" "g.2121617T>C" "" "" "" "TSC2(NM_000548.3):c.1946T>C (p.M649T), TSC2(NM_000548.5):c.1946T>C (p.M649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026596" "0" "30" "16" "2124384" "2124384" "subst" "0.000271052" "02329" "TSC2_001946" "g.2124384C>T" "" "" "" "TSC2(NM_000548.5):c.2539C>T (p.L847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026597" "0" "30" "16" "2129316" "2129316" "subst" "4.06911E-6" "02329" "NTHL1_000388" "g.2129316C>G" "" "" "" "TSC2(NM_000548.5):c.3171C>G (p.T1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026598" "0" "50" "16" "2129658" "2129658" "subst" "1.92354E-5" "02325" "TSC2_001864" "g.2129658C>T" "" "" "" "TSC2(NM_000548.5):c.3385C>T (p.R1129C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026599" "0" "30" "16" "2130368" "2130368" "subst" "1.23132E-5" "02329" "TSC2_003177" "g.2130368G>A" "" "" "" "TSC2(NM_000548.5):c.3600G>A (p.R1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026600" "0" "50" "16" "2133684" "2133684" "subst" "0" "02329" "TSC2_001636" "g.2133684G>A" "" "" "" "TSC2(NM_000548.5):c.3884-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026601" "0" "30" "16" "2134692" "2134692" "subst" "0.00019249" "02329" "TSC2_001291" "g.2134692A>G" "" "" "" "TSC2(NM_000548.5):c.4469A>G (p.E1490G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026602" "0" "50" "16" "2135003" "2135003" "subst" "0" "02325" "NTHL1_000370" "g.2135003C>G" "" "" "" "TSC2(NM_000548.3):c.4545C>G (p.(Asn1515Lys)), TSC2(NM_000548.5):c.4545C>G (p.N1515K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026603" "0" "90" "16" "2135267" "2135267" "subst" "0" "02329" "TSC2_000333" "g.2135267C>T" "" "" "" "TSC2(NM_000548.3):c.4606C>T (p.Q1536*), TSC2(NM_000548.5):c.4606C>T (p.Q1536*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026604" "0" "10" "16" "2137899" "2137899" "subst" "0.00103952" "02329" "TSC2_000630" "g.2137899G>A" "" "" "" "TSC2(NM_000548.3):c.5025G>A (p.P1675=), TSC2(NM_000548.5):c.5025G>A (p.P1675=), TSC2(NM_001370404.1):c.4893G>A (p.P1631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026605" "0" "30" "16" "2138102" "2138102" "subst" "0" "02329" "NTHL1_000389" "g.2138102C>T" "" "" "" "TSC2(NM_000548.5):c.5122C>T (p.L1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026606" "0" "30" "16" "2138461" "2138461" "subst" "2.84991E-5" "02329" "TSC2_004431" "g.2138461C>T" "" "" "" "TSC2(NM_000548.3):c.5274C>T (p.A1758=), TSC2(NM_000548.5):c.5274C>T (p.A1758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026607" "0" "90" "16" "2139901" "2139901" "subst" "0" "01804" "NTHL1_000390" "g.2139901G>A" "" "" "" "PKD1(NM_000296.3):c.12736C>T (p.(Gln4246Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026608" "0" "90" "16" "2141573" "2141574" "del" "0" "01804" "NTHL1_000391" "g.2141573_2141574del" "" "" "" "PKD1(NM_000296.3):c.11560_11561del (p.(Thr3854AlafsTer105))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026609" "0" "30" "16" "2141609" "2141609" "subst" "0.00151542" "01804" "PKD1_002850" "g.2141609G>A" "" "" "" "PKD1(NM_000296.3):c.11535-11C>T (p.(=)), PKD1(NM_001009944.2):c.11538-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026610" "0" "90" "16" "2141870" "2141870" "dup" "0" "01804" "PKD1_001396" "g.2141870dup" "" "" "" "PKD1(NM_000296.3):c.11450dup (p.(Tyr3818LeufsTer142)), PKD1(NM_001009944.2):c.11453dupG (p.Y3819Lfs*142)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026611" "0" "70" "16" "2142493" "2142493" "subst" "0" "01804" "PKD1_000070" "g.2142493G>A" "" "" "" "PKD1(NM_001009944.2):c.11257C>T (p.(Arg3753Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026612" "0" "90" "16" "2143074" "2143075" "del" "0" "01804" "NTHL1_000392" "g.2143074_2143075del" "" "" "" "PKD1(NM_001009944.2):c.11039_11040del (p.(Phe3680SerfsTer41))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026613" "0" "30" "16" "2143979" "2143979" "subst" "0.000426292" "01804" "PKD1_000598" "g.2143979C>A" "" "" "" "PKD1(NM_000296.3):c.10651G>T (p.(Ala3551Ser)), PKD1(NM_001009944.2):c.10654G>T (p.A3552S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026614" "0" "30" "16" "2147139" "2147139" "subst" "0.000242732" "01804" "TSC2_004833" "g.2147139G>A" "" "" "" "PKD1(NM_000296.3):c.10496+10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026615" "0" "90" "16" "2147228" "2147228" "subst" "0" "02326" "PKD1_000189" "g.2147228G>A" "" "" "" "PKD1(NM_001009944.2):c.10420C>T (p.Q3474*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026616" "0" "90" "16" "2147419" "2147419" "subst" "0" "02326" "TSC2_004834" "g.2147419G>A" "" "" "" "PKD1(NM_001009944.2):c.10306C>T (p.Q3436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026617" "0" "10" "16" "2147421" "2147421" "subst" "0.00245984" "02326" "PKD1_001030" "g.2147421C>T" "" "" "" "PKD1(NM_000296.3):c.10301G>A (p.(Arg3434Gln)), PKD1(NM_001009944.2):c.10304G>A (p.R3435Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026618" "0" "30" "16" "2147934" "2147934" "subst" "0.000249234" "01804" "PKD1_000263" "g.2147934C>T" "" "" "" "PKD1(NM_001009944.2):c.10102G>A (p.(Asp3368Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026619" "0" "30" "16" "2147975" "2147975" "subst" "0" "01804" "TSC2_004835" "g.2147975C>A" "" "" "" "PKD1(NM_000296.3):c.10061G>T (p.(Ser3354Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026620" "0" "50" "16" "2149991" "2149991" "subst" "6.19809E-6" "02327" "TSC2_004836" "g.2149991G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026621" "0" "70" "16" "2150561" "2150561" "subst" "0" "02326" "PKD1_000627" "g.2150561G>A" "" "" "" "PKD1(NM_001009944.2):c.9404C>T (p.T3135M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026622" "0" "90" "16" "2152380" "2152380" "subst" "0" "02325" "TSC2_004837" "g.2152380A>G" "" "" "" "PKD1(NM_001009944.3):c.9201+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026623" "0" "90" "16" "2152586" "2152586" "del" "0" "02326" "TSC2_004838" "g.2152586del" "" "" "" "PKD1(NM_001009944.2):c.8998delC (p.R3000Afs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026624" "0" "10" "16" "2153694" "2153694" "subst" "0.00105915" "01804" "PKD1_000570" "g.2153694C>T" "" "" "" "PKD1(NM_000296.3):c.8364G>A (p.(Ser2788=)), PKD1(NM_001009944.2):c.8364G>A (p.S2788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026625" "0" "90" "16" "2153747" "2153747" "subst" "0" "02326" "PKD1_000116" "g.2153747C>T" "" "" "" "PKD1(NM_000296.3):c.8311G>A (p.(Glu2771Lys)), PKD1(NM_001009944.2):c.8311G>A (p.E2771K), PKD1(NM_001009944.3):c.8311G>A (p.E2771K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026626" "0" "70" "16" "2153747" "2153747" "subst" "0" "02329" "PKD1_000116" "g.2153747C>T" "" "" "" "PKD1(NM_000296.3):c.8311G>A (p.(Glu2771Lys)), PKD1(NM_001009944.2):c.8311G>A (p.E2771K), PKD1(NM_001009944.3):c.8311G>A (p.E2771K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026627" "0" "90" "16" "2153759" "2153759" "subst" "0" "02326" "PKD1_000286" "g.2153759G>A" "" "" "" "PKD1(NM_001009944.2):c.8299C>T (p.R2767C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026628" "0" "90" "16" "2155355" "2155355" "subst" "4.45732E-6" "01804" "PKD1_001936" "g.2155355G>A" "" "" "" "PKD1(NM_001009944.2):c.7984C>T (p.(Gln2662Ter), p.Q2662*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026629" "0" "50" "16" "2155411" "2155411" "subst" "8.34519E-5" "02326" "TSC2_004839" "g.2155411C>A" "" "" "" "PKD1(NM_001009944.2):c.7928G>T (p.R2643L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026630" "0" "90" "16" "2155424" "2155424" "subst" "0" "01804" "PKD1_000074" "g.2155424G>A" "" "" "" "PKD1(NM_001009944.2):c.7915C>T (p.(Arg2639Ter), p.R2639*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026631" "0" "50" "16" "2156588" "2156588" "subst" "0" "02327" "PKD1_000478" "g.2156588G>A" "" "" "" "PKD1(NM_001009944.2):c.7300C>T (p.(Arg2434Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026632" "0" "10" "16" "2156616" "2156616" "subst" "2.1694E-5" "01804" "TSC2_004840" "g.2156616C>T" "" "" "" "PKD1(NM_001009944.2):c.7272G>A (p.(Thr2424=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026633" "0" "90" "16" "2157959" "2157965" "del" "0" "01804" "PKD1_000099" "g.2157959_2157965del" "" "" "" "PKD1(NM_001009944.2):c.6994_7000del (p.(Ala2332TrpfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026634" "0" "50" "16" "2158485" "2158485" "subst" "0" "01804" "TSC2_004841" "g.2158485T>C" "" "" "" "PKD1(NM_001009944.2):c.6683A>G (p.(Tyr2228Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026635" "0" "90" "16" "2158984" "2158984" "subst" "4.16462E-6" "01804" "PKD1_000640" "g.2158984G>A" "" "" "" "PKD1(NM_001009944.2):c.6184C>T (p.(Gln2062Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026636" "0" "30" "16" "2159272" "2159272" "subst" "3.55003E-5" "01804" "PKD1_000647" "g.2159272C>T" "" "" "" "PKD1(NM_000296.3):c.5896G>A (p.(Val1966Met)), PKD1(NM_001009944.2):c.5896G>A (p.V1966M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026637" "0" "90" "16" "2159710" "2159710" "dup" "0" "02326" "TSC2_004842" "g.2159710dup" "" "" "" "PKD1(NM_001009944.2):c.5460dupG (p.S1821Vfs*169)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026638" "0" "90" "16" "2160351" "2160351" "del" "0" "01804" "TSC2_004843" "g.2160351del" "" "" "" "PKD1(NM_001009944.2):c.4818del (p.(Phe1607SerfsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026639" "0" "30" "16" "2161237" "2161237" "subst" "0.00115082" "01804" "PKD1_002413" "g.2161237C>T" "" "" "" "PKD1(NM_000296.3):c.3931G>A (p.(Ala1311Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026640" "0" "50" "16" "2161297" "2161297" "subst" "0" "02326" "TSC2_004526" "g.2161297C>A" "" "" "" "PKD1(NM_001009944.2):c.3871G>T (p.(Val1291Phe), p.V1291F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026641" "0" "90" "16" "2162924" "2162941" "del" "0" "01804" "TSC2_004422" "g.2162924_2162941del" "" "" "" "PKD1(NM_001009944.2):c.3015_3032del (p.(Asn1008_Val1013del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026642" "0" "90" "16" "2163188" "2163188" "subst" "0" "02327" "PKD1_002525" "g.2163188G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026643" "0" "50" "16" "2164181" "2164181" "subst" "0" "02325" "TSC2_004844" "g.2164181C>A" "" "" "" "PKD1(NM_001009944.3):c.2843G>T (p.G948V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026644" "0" "50" "16" "2164538" "2164538" "subst" "0" "02327" "PKD1_002580" "g.2164538G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026645" "0" "90" "16" "2166032" "2166032" "subst" "0" "02327" "TSC2_004845" "g.2166032G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026646" "0" "90" "16" "2166892" "2166892" "subst" "0" "02327" "TSC2_004846" "g.2166892C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026647" "0" "90" "16" "2167584" "2167584" "subst" "0" "02326" "TSC2_004847" "g.2167584G>A" "" "" "" "PKD1(NM_001009944.2):c.1291C>T (p.Q431*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040893" "0" "30" "16" "2093698" "2093698" "subst" "8.17E-6" "02329" "NTHL1_000393" "g.2093698G>A" "" "" "" "NTHL1(NM_002528.7):c.555C>T (p.S185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040895" "0" "30" "16" "2097829" "2097829" "subst" "0.000109471" "02327" "NTHL1_000394" "g.2097829G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040896" "0" "30" "16" "2103375" "2103375" "subst" "8.74202E-5" "02326" "TSC2_001992" "g.2103375G>A" "" "" "" "TSC2(NM_000548.3):c.258G>A (p.A86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040897" "0" "30" "16" "2104304" "2104304" "subst" "6.09107E-5" "02326" "TSC2_001951" "g.2104304G>A" "" "" "" "TSC2(NM_000548.3):c.344G>A (p.R115H), TSC2(NM_000548.5):c.344G>A (p.R115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040899" "0" "10" "16" "2107186" "2107186" "subst" "0.000743898" "01804" "TSC2_000898" "g.2107186G>A" "" "" "" "TSC2(NM_000548.5):c.848+7G>A, TSC2(NM_001114382.2):c.848+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040901" "0" "10" "16" "2108847" "2108847" "subst" "0.000793915" "02326" "TSC2_000933" "g.2108847G>A" "" "" "" "TSC2(NM_000548.3):c.948G>A (p.P316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040902" "0" "30" "16" "2108880" "2108880" "subst" "0" "01804" "NTHL1_000395" "g.2108880G>T" "" "" "" "TSC2(NM_000548.5):c.975+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040903" "0" "30" "16" "2112532" "2112532" "subst" "0.000288655" "01804" "TSC2_003292" "g.2112532C>T" "" "" "" "TSC2(NM_000548.5):c.1292C>T (p.(Ala431Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040906" "0" "30" "16" "2121912" "2121912" "subst" "2.43857E-5" "01804" "NTHL1_000396" "g.2121912G>A" "" "" "" "TSC2(NM_000548.5):c.2074G>A (p.(Val692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040907" "0" "30" "16" "2122351" "2122351" "subst" "5.28378E-5" "02326" "NTHL1_000397" "g.2122351C>T" "" "" "" "TSC2(NM_000548.3):c.2207C>T (p.A736V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040909" "0" "30" "16" "2129044" "2129044" "subst" "3.6642E-5" "01804" "TSC2_001068" "g.2129044C>T" "" "" "" "TSC2(NM_000548.3):c.2978C>T (p.T993M), TSC2(NM_000548.5):c.2978C>T (p.T993M, p.(Thr993Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040910" "0" "50" "16" "2130319" "2130319" "subst" "2.03764E-5" "02325" "TSC2_004310" "g.2130319C>T" "" "" "" "TSC2(NM_000548.5):c.3551C>T (p.A1184V), TSC2(NM_001114382.2):c.3551C>T (p.A1184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040911" "0" "50" "16" "2134438" "2134438" "subst" "0.00890403" "01804" "TSC2_000946" "g.2134438C>T" "" "" "" "TSC2(NM_000548.3):c.4215C>T (p.A1405=, p.(Ala1405=)), TSC2(NM_000548.5):c.4215C>T (p.A1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040912" "0" "10" "16" "2134508" "2134508" "subst" "0.00277811" "01804" "TSC2_000572" "g.2134508G>T" "" "" "" "TSC2(NM_000548.3):c.4285G>T (p.A1429S), TSC2(NM_000548.5):c.4285G>T (p.A1429S, p.(Ala1429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040913" "0" "50" "16" "2134649" "2134649" "subst" "0" "02325" "NTHL1_000398" "g.2134649G>C" "" "" "" "TSC2(NM_000548.5):c.4426G>C (p.E1476Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040914" "0" "90" "16" "2136795" "2136797" "del" "0" "01804" "TSC2_000872" "g.2136795_2136797del" "" "" "" "TSC2(NM_000548.3):c.4912_4914delAAG (p.K1638del), TSC2(NM_000548.5):c.4912_4914del (p.(Lys1638del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040915" "0" "30" "16" "2137857" "2137857" "subst" "0.00229678" "02326" "TSC2_000629" "g.2137857C>T" "" "" "" "TSC2(NM_000548.3):c.4990-7C>T (p.(=)), TSC2(NM_001114382.2):c.4921-7C>T, TSC2(NM_001370404.1):c.4858-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040916" "0" "50" "16" "2137891" "2137891" "subst" "0.000497204" "01804" "TSC2_000724" "g.2137891G>C" "" "" "" "TSC2(NM_000548.3):c.5017G>C (p.V1673L, p.(Val1673Leu)), TSC2(NM_000548.5):c.5017G>C (p.V1673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040917" "0" "30" "16" "2138075" "2138075" "subst" "2.0352E-5" "01804" "TSC2_004433" "g.2138075G>A" "" "" "" "TSC2(NM_000548.5):c.5095G>A (p.V1699M, p.(Val1699Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040918" "0" "90" "16" "2138294" "2138294" "subst" "0" "02327" "TSC2_000329" "g.2138294C>T" "" "" "" "TSC2(NM_000548.3):c.5227C>T (p.R1743W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040919" "0" "30" "16" "2140660" "2140660" "subst" "0.000174382" "01804" "NTHL1_000399" "g.2140660C>T" "" "" "" "PKD1(NM_000296.3):c.12135+15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040922" "0" "50" "16" "2141870" "2141870" "subst" "0" "02326" "NTHL1_000400" "g.2141870C>G" "" "" "" "PKD1(NM_001009944.2):c.11449G>C (p.G3817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040923" "0" "30" "16" "2147246" "2147246" "subst" "0.000140017" "01804" "TSC2_004849" "g.2147246G>C" "" "" "" "PKD1(NM_001009944.2):c.10406-4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040924" "0" "90" "16" "2149890" "2149890" "dup" "0" "01804" "TSC2_004850" "g.2149890dup" "" "" "" "PKD1(NM_001009944.2):c.9895dup (p.(Tyr3299LeufsTer91))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040925" "0" "90" "16" "2149901" "2149906" "del" "0" "01804" "TSC2_004851" "g.2149901_2149906del" "" "" "" "PKD1(NM_001009944.2):c.9883_9888del (p.(Asn3295_Ala3296del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040926" "0" "50" "16" "2149916" "2149916" "subst" "0" "01804" "TSC2_004852" "g.2149916A>G" "" "" "" "PKD1(NM_001009944.2):c.9869T>C (p.(Leu3290Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040927" "0" "30" "16" "2150388" "2150388" "subst" "2.85325E-5" "01804" "TSC2_004853" "g.2150388C>T" "" "" "" "PKD1(NM_001009944.3):c.9568+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040928" "0" "50" "16" "2152110" "2152110" "subst" "8.69129E-5" "01804" "PKD1_001712" "g.2152110G>A" "" "" "" "PKD1(NM_001009944.3):c.9349C>T (p.(Arg3117Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040929" "0" "50" "16" "2152140" "2152140" "subst" "8.94174E-6" "01804" "TSC2_004854" "g.2152140G>A" "" "" "" "PKD1(NM_001009944.3):c.9319C>T (p.(Arg3107Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040930" "0" "90" "16" "2153798" "2153801" "del" "0" "02327" "PKD1_001888" "g.2153798_2153801del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040931" "0" "30" "16" "2154530" "2154530" "subst" "0.000301378" "01804" "TSC2_004855" "g.2154530G>A" "" "" "" "PKD1(NM_000296.3):c.8130C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040932" "0" "90" "16" "2155331" "2155331" "subst" "0" "01804" "PKD1_001933" "g.2155331G>A" "" "" "" "PKD1(NM_001009944.2):c.8008C>T (p.(Gln2670Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040933" "0" "50" "16" "2155402" "2155402" "subst" "0.000219645" "01804" "PKD1_000474" "g.2155402A>G" "" "" "" "PKD1(NM_001009944.2):c.7937T>C (p.I2646T), PKD1(NM_001009944.3):c.7937T>C (p.(Ile2646Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040934" "0" "50" "16" "2155918" "2155926" "del" "0" "01804" "TSC2_004856" "g.2155918_2155926del" "" "" "" "PKD1(NM_001009944.2):c.7803_7811del (p.(Gln2602_Asp2604del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040935" "0" "50" "16" "2156471" "2156471" "subst" "0" "01804" "TSC2_004857" "g.2156471C>A" "" "" "" "PKD1(NM_001009944.3):c.7417G>T (p.(Gly2473Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040936" "0" "50" "16" "2156567" "2156567" "subst" "0.000161747" "01804" "TSC2_004858" "g.2156567C>T" "" "" "" "PKD1(NM_001009944.3):c.7321G>A (p.(Gly2441Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040937" "0" "30" "16" "2161411" "2161411" "subst" "0" "01804" "TSC2_004859" "g.2161411G>A" "" "" "" "PKD1(NM_001009944.2):c.3757C>T (p.(Leu1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040938" "0" "30" "16" "2161673" "2161673" "subst" "0.000362024" "01804" "PKD1_000850" "g.2161673G>A" "" "" "" "PKD1(NM_000296.3):c.3495C>T (p.(Asp1165=)), PKD1(NM_001009944.2):c.3495C>T (p.D1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040939" "0" "30" "16" "2161743" "2161743" "subst" "0" "01804" "PKD1_002461" "g.2161743C>T" "" "" "" "PKD1(NM_000296.3):c.3425G>A (p.(Arg1142Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040940" "0" "70" "16" "2164291" "2164302" "del" "0" "01804" "TSC2_004860" "g.2164291_2164302del" "" "" "" "PKD1(NM_001009944.2):c.2730_2741del (p.(Asp910_Val913del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040941" "0" "30" "16" "2166883" "2166883" "subst" "0.00011013" "01804" "PKD1_002691" "g.2166883G>A" "" "" "" "PKD1(NM_000296.3):c.1557C>T (p.(Thr519=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040942" "0" "90" "16" "2167614" "2167614" "subst" "0" "01804" "PKD1_000759" "g.2167614G>A" "" "" "" "PKD1(NM_001009944.2):c.1261C>T (p.(Arg421Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040943" "0" "30" "16" "2167831" "2167831" "subst" "2.52998E-5" "01804" "TSC2_004861" "g.2167831C>A" "" "" "" "PKD1(NM_001009944.3):c.1162G>T (p.(Ala388Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040944" "0" "70" "16" "2168019" "2168019" "subst" "0" "02326" "PKD1_000408" "g.2168019T>C" "" "" "" "PKD1(NM_001009944.2):c.974A>G (p.(Tyr325Cys), p.Y325C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040945" "0" "50" "16" "2169172" "2169172" "subst" "0" "01804" "TSC2_004862" "g.2169172T>G" "" "" "" "PKD1(NM_001009944.2):c.302A>C (p.(Asn101Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045007" "21" "70" "16" "2150463" "2150463" "subst" "0" "04614" "PKD1_002960" "g.2150463A>C" "" "" "" "" "ACMG PM2, PM5, PM1, PP3, PP1" "Germline" "yes" "" "0" "" "" "g.2100462A>C" "" "likely pathogenic (dominant)" "ACMG" "0001046540" "0" "50" "16" "2096383" "2096383" "subst" "0.000617514" "01804" "NTHL1_000191" "g.2096383C>T" "" "" "" "NTHL1(NM_001318193.1):c.140-16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046541" "0" "50" "16" "2097826" "2097826" "subst" "0" "01804" "NTHL1_000402" "g.2097826C>T" "" "" "" "NTHL1(NM_001318193.1):c.23G>A (p.(Gly8Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046542" "0" "90" "16" "2121933" "2121933" "subst" "0" "02326" "TSC2_000437" "g.2121933C>T" "" "" "" "TSC2(NM_000548.3):c.2095C>T (p.Q699*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046543" "0" "30" "16" "2124321" "2124321" "subst" "0.000663497" "02326" "TSC2_000132" "g.2124321C>A" "" "" "" "TSC2(NM_000548.3):c.2476C>A (p.L826M), TSC2(NM_000548.5):c.2476C>A (p.L826M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046544" "0" "50" "16" "2138117" "2138117" "subst" "4.07E-6" "02326" "NTHL1_000348" "g.2138117C>T" "" "" "" "TSC2(NM_000548.3):c.5137C>T (p.R1713C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046545" "0" "70" "16" "2140323" "2140323" "subst" "4.14024E-6" "02326" "NTHL1_000403" "g.2140323C>A" "" "" "" "PKD1(NM_001009944.2):c.12407G>T (p.R4136M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046546" "0" "30" "16" "2140705" "2140705" "subst" "9.06125E-5" "02326" "PKD1_001307" "g.2140705G>A" "" "" "" "PKD1(NM_001009944.2):c.12108C>T (p.L4036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046547" "0" "30" "16" "2142071" "2142071" "subst" "0.000257639" "02326" "PKD1_000584" "g.2142071G>C" "" "" "" "PKD1(NM_001009944.2):c.11388C>G (p.A3796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046548" "0" "30" "16" "2142984" "2142984" "subst" "8.13643E-6" "01804" "NTHL1_000404" "g.2142984C>T" "" "" "" "PKD1(NM_001009944.2):c.11127G>A (p.(Leu3709=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046549" "0" "30" "16" "2143581" "2143581" "subst" "0" "01804" "NTHL1_000405" "g.2143581T>C" "" "" "" "PKD1(NM_000296.3):c.10977A>G (p.(Glu3659=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046550" "0" "70" "16" "2143603" "2143603" "subst" "0" "02326" "PKD1_001490" "g.2143603G>A" "" "" "" "PKD1(NM_001009944.2):c.10958C>T (p.A3653V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046551" "0" "90" "16" "2149768" "2149768" "del" "0" "01804" "TSC2_004866" "g.2149768del" "" "" "" "PKD1(NM_001009944.2):c.9930del (p.(His3311MetfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046552" "0" "30" "16" "2156891" "2156891" "subst" "0.000341112" "01804" "PKD1_002076" "g.2156891G>A" "" "" "" "PKD1(NM_000296.3):c.7124C>T (p.(Ala2375Val)), PKD1(NM_001009944.2):c.7124C>T (p.A2375V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046553" "0" "90" "16" "2157969" "2157969" "del" "0" "01804" "TSC2_004867" "g.2157969del" "" "" "" "PKD1(NM_001009944.2):c.6982del (p.(Glu2328SerfsTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046554" "0" "90" "16" "2160831" "2160831" "del" "0" "01804" "TSC2_004868" "g.2160831del" "" "" "" "PKD1(NM_001009944.2):c.4338del (p.(Ala1447ArgfsTer87))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046555" "0" "90" "16" "2164535" "2164535" "del" "0" "02326" "PKD1_002577" "g.2164535del" "" "" "" "PKD1(NM_001009944.2):c.2494delC (p.R832Afs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046556" "0" "90" "16" "2168243" "2168243" "del" "0" "02326" "TSC2_004869" "g.2168243del" "" "" "" "PKD1(NM_001009944.2):c.755delC (p.P252Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047552" "0" "70" "16" "2147435" "2147435" "subst" "0" "03779" "PKD1_001584" "g.2147435C>T" "" "" "" "" "" "Unknown" "" "rs2544688515" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PKD1 ## Count = 6177 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Predict/BioInf}}" "0000037007" "00023950" "90" "9091" "0" "9091" "0" "c.9091del" "r.(?)" "p.(Leu3031Cysfs*43)" "25" "" "0000037008" "00023950" "90" "9058" "0" "9058" "0" "c.9058G>T" "r.(?)" "p.(Glu3020*)" "25" "" "0000037472" "00023950" "90" "12138" "1" "12138" "1" "c.12138+1G>C" "r.spl?" "p.?" "44i" "" "0000037473" "00023950" "90" "11269" "1" "11269" "1" "c.11269+1G>C" "r.spl?" "p.?" "39i" "" "0000038360" "00023950" "50" "12436" "0" "12436" "0" "c.12436G>A" "r.(?)" "p.(Val4146Ile)" "45" "" "0000038361" "00023950" "30" "11537" "3" "11537" "5" "c.11537+3_11537+5dup" "r.(=)" "p.(=)" "41i" "" "0000038362" "00023950" "90" "12138" "1" "12138" "1" "c.12138+1G>C" "r.12001_12138del" "p.Ala4001_Leu4046del" "44i" "" "0000038363" "00023950" "90" "10051" "-1" "10499" "1" "c.(10050+1_10051-1)_(10499+1_10500-1)del" "r.10051_10499del" "p.Ala3352Glnfs" "30i_34i" "" "0000038364" "00023950" "90" "12124" "0" "12124" "0" "c.12124C>T" "r.12124c>u" "p.Gln4042*" "44" "" "0000038365" "00023950" "99" "12682" "0" "12682" "0" "c.12682C>T" "r.(?)" "p.(Arg4228*)" "46" "" "0000038366" "00023950" "99" "11512" "0" "11512" "0" "c.11512C>T" "r.(?)" "p.(Gln3838*)" "41" "" "0000038367" "00023950" "99" "11249" "0" "11263" "0" "c.11249_11263del" "r.(?)" "p.(Arg3750_Leu3754del)" "39" "" "0000038368" "00023950" "99" "10896" "0" "10896" "0" "c.10896G>C" "r.(?)" "p.(Glu3632Asp)" "37" "" "0000038369" "00023950" "99" "10739" "0" "10739" "0" "c.10739dup" "r.(?)" "p.(Val3584Argfs*43)" "36" "" "0000038371" "00023950" "90" "11457" "0" "11457" "0" "c.11457C>A" "r.(?)" "p.(Tyr3819*)" "41" "" "0000038374" "00023950" "90" "10540" "0" "10540" "0" "c.10540C>T" "r.(?)" "p.(Gln3514*)" "35" "" "0000038375" "00023950" "90" "10531" "0" "10531" "0" "c.10531C>G" "r.(?)" "p.(Leu3511Val)" "35" "" "0000038378" "00023950" "90" "9047" "0" "9047" "0" "c.9047A>G" "r.(?)" "p.(Gln3016Arg)" "25" "" "0000038379" "00023950" "90" "8978" "0" "8978" "0" "c.8978T>C" "r.(?)" "p.(Leu2993Pro)" "25" "" "0000038380" "00023950" "90" "8446" "0" "8446" "0" "c.8446del" "r.(?)" "p.(Leu2816Trpfs*59)" "23" "" "0000038384" "00023950" "50" "9022" "0" "9022" "0" "c.9022G>C" "r.(?)" "p.(Val3008Leu)" "25" "" "0000038385" "00023950" "10" "8279" "0" "8279" "0" "c.8279T>C" "r.(?)" "p.(Met2760Thr)" "23" "" "0000038386" "00023950" "50" "8372" "0" "8372" "0" "c.8372G>A" "r.(?)" "p.(Arg2791Gln)" "23" "" "0000038390" "00023950" "10" "8279" "0" "8279" "0" "c.8279T>C" "r.(?)" "p.(Met2760Thr)" "23" "" "0000038391" "00023950" "90" "12036" "0" "12036" "0" "c.12036G>A" "r.12036g>a" "p.Trp4012*" "44" "" "0000038392" "00023950" "90" "8698" "0" "8698" "0" "c.8698C>T" "r.8698c>u" "p.Gln2900*" "23" "" "0000038393" "00023950" "90" "6574" "0" "6580" "0" "c.6574_6580del" "r.6574_6580del" "p.Thr2192Alafs*18" "15" "" "0000038394" "00023950" "90" "5622" "0" "5622" "0" "c.5622G>A" "r.5622g>a" "p.Trp1874*" "15" "" "0000038395" "00023950" "90" "5014" "0" "5014" "0" "c.5014del" "r.5014del" "p.Arg1672Glyfs*50" "15" "" "0000038396" "00023950" "90" "4041" "0" "4042" "0" "c.4041_4042del" "r.4041_4042del" "p.His1347Glnfs*83" "15" "" "0000038397" "00023950" "90" "3866" "0" "3866" "0" "c.3866del" "r.3866del" "p.(al1289Glyfs*57" "15" "" "0000038473" "00023950" "90" "7006" "0" "7006" "0" "c.7006T>G" "r.(?)" "p.(Tyr2336Asp)" "" "" "0000038492" "00023950" "90" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Trp139Cys)" "" "" "0000038493" "00023950" "90" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ser75Phe)" "" "" "0000038494" "00023950" "70" "38" "0" "38" "0" "c.38T>A" "r.(?)" "p.(Leu13Gln)" "1" "" "0000038495" "00023950" "90" "13" "0" "25" "0" "c.13_25del" "r.(?)" "p.(Ala5Trpfs*64)" "1" "" "0000038745" "00023950" "90" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Arg585Cys)" "9" "" "0000038842" "00023950" "77" "12345" "0" "12345" "0" "c.12345A>G" "r.(=)" "p.(=)" "44" "" "0000038843" "00023950" "77" "12381" "0" "12381" "0" "c.12381C>T" "r.(=)" "p.(=)" "45" "" "0000038879" "00023950" "10" "8235" "0" "8235" "0" "c.8235T>G" "r.(=)" "p.(=)" "23" "" "0000038880" "00023950" "30" "8282" "0" "8282" "0" "c.8282G>C" "r.(?)" "p.(Arg2761Pro)" "23" "" "0000038881" "00023950" "50" "8287" "0" "8287" "0" "c.8287C>G" "r.(?)" "p.(Leu2763Val)" "23" "" "0000038882" "00023950" "30" "8291" "0" "8291" "0" "c.8291T>C" "r.(?)" "p.(Met2764Thr)" "23" "" "0000038883" "00023950" "10" "8235" "0" "8235" "0" "c.8235T>G" "r.(=)" "p.(=)" "23" "" "0000038884" "00023950" "30" "8282" "0" "8282" "0" "c.8282G>C" "r.(?)" "p.(Arg2761Pro)" "23" "" "0000038885" "00023950" "30" "8291" "0" "8291" "0" "c.8291T>C" "r.(?)" "p.(Met2764Thr)" "23" "" "0000038886" "00023950" "30" "8477" "0" "8477" "0" "c.8477T>C" "r.(?)" "p.(Ile2826Thr)" "23" "" "0000038887" "00023950" "10" "8913" "0" "8913" "0" "c.8913T>C" "r.(=)" "p.(=)" "24" "" "0000038888" "00023950" "10" "8948" "14" "8948" "14" "c.8948+14G>A" "r.(=)" "p.(=)" "24i" "" "0000038889" "00023950" "10" "9195" "0" "9196" "0" "c.9195_9196delinsCC" "r.(?)" "p.(Phe3066Leu)" "25" "" "0000058532" "00023950" "50" "9932" "0" "9932" "0" "c.9932A>G" "r.(?)" "p.(His3311Arg)" "" "" "0000075212" "00023950" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "5" "" "0000079035" "00023950" "99" "12445" "-34" "12445" "-10" "c.12445-34_12445-10del" "r.(=)" "p.(Phe4149fs*61)" "45i" "" "0000079036" "00023950" "30" "4248" "0" "4248" "0" "c.4248T>C" "r.(=)" "p.(Phe1416=)" "46" "" "0000089494" "00023950" "99" "12445" "-34" "12445" "-10" "c.12445-34_12445-10del" "r.(?)" "p.(Phe4149fs*61)" "45i" "" "0000089495" "00023950" "70" "11270" "-3" "11270" "-3" "c.11270-3C>A" "r.spl?" "p.?" "39i" "" "0000089496" "00023950" "70" "695" "0" "695" "0" "c.695G>C" "r.(?)" "p.(Cys232Ser)" "5" "PolyPhen: benign; SIFT: damaging; MutationTaster: disease causing; Grantham: 112; AGVGD: C65" "0000089497" "00023950" "99" "6424" "0" "6424" "0" "c.6424C>T" "r.(?)" "p.(Gln2142*)" "15" "" "0000089498" "00023950" "99" "9036" "0" "9040" "0" "c.9036_9040dup" "r.(?)" "p.(eu3014Valfs*54)" "25" "" "0000089499" "00023950" "99" "6544" "0" "6544" "0" "c.6544C>T" "r.(?)" "p.(Gln2182*)" "15" "" "0000089500" "00023950" "99" "6544" "0" "6544" "0" "c.6544C>T" "r.(?)" "p.(Gln2182*)" "15" "" "0000089501" "00023950" "50" "3220" "0" "3220" "0" "c.3220T>A" "r.(?)" "p.(Ser1074Thr)" "14" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 58; AGVGD: C0" "0000089502" "00023950" "99" "999" "0" "999" "0" "c.999del" "r.(?)" "p.(Val3332fs*63)" "5" "" "0000089503" "00023950" "30" "4857" "0" "4857" "0" "c.4857C>T" "r.(?)" "p.(Ser1619=)" "15" "" "0000089504" "00023950" "70" "6137" "0" "6137" "0" "c.6137T>C" "r.(?)" "p.(Leu2046Pro)" "15" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 98; AGVGD: C65" "0000089505" "00023950" "70" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "23" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 180; AGVGD: C15" "0000089506" "00023950" "30" "7842" "0" "7842" "0" "c.7842C>A" "r.(?)" "p.(Ala2614=)" "20" "" "0000089507" "00023950" "50" "9035" "0" "9035" "0" "c.9035C>T" "r.(?)" "p.(Thr3012Met)" "25" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 81; AGVGD: C15" "0000089508" "00023950" "99" "5477" "0" "5477" "0" "c.5477G>A" "r.(?)" "p.(Trp1826*)" "15" "" "0000089512" "00023950" "70" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "18" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 101; AGVGD: C65" "0000089513" "00023950" "70" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "18" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 101; AGVGD: C65" "0000089514" "00023950" "70" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "29" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 180; AGVGD: C65" "0000089515" "00023950" "99" "393" "0" "394" "0" "c.393_394del" "r.(?)" "p.(Cys131Trpfs*47)" "4" "" "0000089516" "00023950" "70" "9404" "0" "9404" "0" "c.9404C>T" "r.(?)" "p.(Thr3135Met)" "27" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 81; AGVGD: C65" "0000089518" "00023950" "30" "7575" "0" "7575" "0" "c.7575C>T" "r.(?)" "p.(Phe2525=)" "19" "" "0000089519" "00023950" "50" "9499" "0" "9499" "0" "c.9499A>T" "r.(?)" "p.(Ile3167Phe)" "27" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 21; AGVGD: C0" "0000089520" "00023950" "50" "9499" "0" "9499" "0" "c.9499A>T" "r.(?)" "p.(Ile3167Phe)" "27" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 21; AGVGD: C0" "0000089521" "00023950" "99" "12124" "0" "12124" "0" "c.12124C>T" "r.(?)" "p.(Gln4042*)" "44" "" "0000089522" "00023950" "50" "194" "0" "194" "0" "c.194T>A" "r.(?)" "p.(Ile65Asn)" "1" "PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 194; AGVGD: C0" "0000089523" "00023950" "70" "8279" "0" "8279" "0" "c.8279T>G" "r.(?)" "p.Met2760Arg" "23" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 91; AGVGD: C35" "0000089524" "00023950" "70" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ser75Phe)" "2" "PolyPhen: benign; SIFT: damaging; MutationTaster: disease causing; Grantham: 155; AGVGD: C65" "0000089525" "00023950" "30" "8364" "0" "8364" "0" "c.8364G>A" "r.(?)" "p.(Ser2788=)" "23" "" "0000089526" "00023950" "30" "5661" "0" "5661" "0" "c.5661C>T" "r.(?)" "p.(Ile1887=)" "15" "" "0000089527" "00023950" "50" "2636" "0" "2636" "0" "c.2636C>G" "r.(?)" "p.(Ala879Gly)" "11" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 60; AGVGD: C0" "0000089528" "00023950" "99" "8095" "0" "8095" "0" "c.8095C>T" "r.(?)" "p.(Gln2699*)" "22" "" "0000089529" "00023950" "99" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Asp962Thrfs*14)" "12" "" "0000089530" "00023950" "99" "6307" "0" "6307" "0" "c.6307C>T" "r.(?)" "p.(Gln2103*)" "15" "" "0000089531" "00023950" "50" "194" "0" "194" "0" "c.194T>A" "r.(?)" "p.(Ile65Asn)" "1" "PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 194; AGVGD: C0" "0000089532" "00023950" "50" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "15" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 81; AGVGD: C15" "0000089533" "00023950" "50" "3424" "0" "3424" "0" "c.3424C>T" "r.(?)" "p.(Arg1142Trp)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 101; AGVGD: C26" "0000089534" "00023950" "30" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Leu339=)" "5" "" "0000089535" "00023950" "30" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Thr154=)" "4" "" "0000089536" "00023950" "99" "1202" "-9" "1202" "-9" "c.1202-9G>A" "r.(?)" "p.(?)" "5i" "" "0000089537" "00023950" "99" "9240" "0" "9241" "0" "c.9240_9241del" "r.(?)" "p.(Ala3082Cysfs*96)" "26" "" "0000089538" "00023950" "70" "9559" "0" "9561" "0" "c.9559_9561del" "r.(?)" "p.(Asp3187del)" "27" "" "0000089539" "00023950" "70" "9559" "0" "9561" "0" "c.9559_9561del" "r.(?)" "p.(Asp3187del)" "27" "" "0000089540" "00023950" "99" "6544" "0" "6544" "0" "c.6544C>T" "r.(?)" "p.(Gln2182*)" "15" "" "0000089541" "00023950" "99" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639*)" "21" "" "0000089542" "00023950" "99" "10964" "0" "10964" "0" "c.10964del" "r.(?)" "p.(Phe3655Serfs*29)" "37" "" "0000089543" "00023950" "99" "6544" "0" "6544" "0" "c.6544C>T" "r.(?)" "p.(Gln2182*)" "15" "" "0000089544" "00023950" "30" "4248" "0" "4248" "0" "c.4248T>C" "r.(?)" "p.(Phe1416=)" "15" "" "0000089545" "00023950" "50" "9035" "0" "9035" "0" "c.9035C>T" "r.(?)" "p.(Thr3012Met)" "25" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 81; AGVGD: C15" "0000089546" "00023950" "99" "5511" "0" "5511" "0" "c.5511G>A" "r.(?)" "p.(Trp1837*)" "15" "" "0000089547" "00023950" "30" "8364" "0" "8364" "0" "c.8364G>A" "r.(?)" "p.(Ser2788=)" "23" "" "0000089548" "00023950" "99" "4369" "0" "4370" "0" "c.4369_4370del" "r.(?)" "p.(Ser1457fs*65)" "15" "" "0000089549" "00023950" "99" "4369" "0" "4370" "0" "c.4369_4370del" "r.(?)" "p.(Ser1457fs*65)" "15" "" "0000089550" "00023950" "99" "9771" "0" "9774" "0" "c.9771_9774del" "r.(?)" "p.(Phe3257Leufs*57)" "29" "" "0000089551" "00023950" "70" "9361" "0" "9361" "0" "c.9361G>A" "r.(?)" "p.(Glu3121Lys)" "26" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 56; AGVGD: C55" "0000089552" "00023950" "99" "11612" "0" "11637" "0" "c.11612_11637del" "r.(?)" "p.(Leu3871Profs*81" "42" "" "0000089553" "00023950" "50" "2347" "0" "2347" "0" "c.2347G>A" "r.(?)" "p.(Gly783Ser)" "11" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 56; AGVGD: C0" "0000089554" "00023950" "50" "2347" "0" "2347" "0" "c.2347G>A" "r.(?)" "p.(Gly783Ser)" "11" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 56; AGVGD: C0" "0000089555" "00023950" "50" "2347" "0" "2347" "0" "c.2347G>A" "r.(?)" "p.(Gly783Ser)" "11" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 56; AGVGD: C0" "0000089556" "00023950" "50" "4856" "0" "4856" "0" "c.4856C>T" "r.(?)" "p.(Ser1619Phe)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 155; AGVGD: C0" "0000089557" "00023950" "50" "4856" "0" "4856" "0" "c.4856C>T" "r.(?)" "p.(Ser1619Phe)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 155; AGVGD: C0" "0000089558" "00023950" "99" "12112" "0" "12112" "0" "c.12112dup" "r.(?)" "p.(Val4038GlyfsTer119)" "44" "" "0000089559" "00023950" "99" "12112" "0" "12112" "0" "c.12112dup" "r.(?)" "p.(Val4038GlyfsTer119)" "44" "" "0000089560" "00023950" "30" "4452" "0" "4452" "0" "c.4452G>A" "r.(?)" "p.(Pro1484=)" "15" "" "0000089561" "00023950" "30" "12436" "0" "12436" "0" "c.12436G>A" "r.(?)" "p.(Val4146Ile)" "45" "" "0000089562" "00023950" "70" "12389" "0" "12391" "0" "c.12389_12391del" "r.(?)" "p.(Val4130del)" "45" "" "0000089563" "00023950" "30" "8162" "-13" "8162" "-13" "c.8162-13C>T" "r.(?)" "p.(?)" "22i" "" "0000089564" "00023950" "99" "6424" "0" "6424" "0" "c.6424C>T" "r.(?)" "p.(Gln2142*)" "15" "" "0000089565" "00023950" "99" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p(Arg1672Glyfs*97)" "15" "" "0000089566" "00023950" "30" "9543" "0" "9543" "0" "c.9543G>A" "r.(?)" "p.(Lys3181=)" "27" "" "0000089567" "00023950" "99" "3671" "0" "3688" "0" "c.3671_3688del" "r.(?)" "p.(Glu1224_Val1229del)" "15" "" "0000089568" "00023950" "99" "738" "1" "738" "1" "c.738+1G>A" "r.spl" "p.?" "5" "" "0000089569" "00023950" "50" "2732" "0" "2732" "0" "c.2732T>A" "r.(?)" "p.(Val911Glu)" "11" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: polymorphism; Grantham: 121; AGVGD: C35" "0000089570" "00023950" "50" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Leu90Phe)" "2" "PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 22; AGVGD: C0" "0000089571" "00023950" "70" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Cys436Arg)" "6" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 180; AGVGD: C65" "0000089572" "00023950" "70" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Cys436Arg)" "6" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 180; AGVGD: C65" "0000089573" "00023950" "30" "8016" "13" "8016" "13" "c.8016+13del" "r.(?)" "p.(?)" "21i" "" "0000089574" "00023950" "99" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672Glyfs*97)" "15" "" "0000089575" "00023950" "50" "11860" "0" "11860" "0" "c.11860G>C" "r.(?)" "p.(Ala3954Pro)" "43" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 27; AGVGD: C0" "0000089576" "00023950" "30" "2838" "0" "2838" "0" "c.2838G>A" "r.(?)" "p.(Leu946=)" "11" "" "0000089577" "00023950" "30" "11388" "0" "11388" "0" "c.11388C>G" "r.(?)" "p.(Ala3796=)" "40" "" "0000089578" "00023950" "70" "6404" "0" "6404" "0" "c.6404C>T" "r.(?)" "p.(Ala2135Val)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 64; AGVGD: C65" "0000089579" "00023950" "30" "5979" "0" "5979" "0" "c.5979A>G" "r.(?)" "p.(Thr1993=)" "15" "" "0000089580" "00023950" "99" "343" "0" "346" "0" "c.343_346del" "r.(?)" "p.(Phe115Ilefs*2)" "3" "" "0000089582" "00023950" "99" "9568" "1" "9568" "1" "c.9568+1G>A" "r.spl" "p.?" "27i" "" "0000089584" "00023950" "99" "8320" "0" "8320" "0" "c.8320del" "r.(?)" "p.(Leu2774*)" "23" "" "0000089585" "00023950" "50" "7636" "0" "7636" "0" "c.7636C>T" "r.(?)" "p.(His2546Tyr)" "19" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 83; AGVGD: C0" "0000089586" "00023950" "30" "215" "27" "215" "27" "c.215+27G>A" "r.(?)" "p.(?)" "1i" "" "0000089587" "00023950" "30" "9397" "14" "9397" "14" "c.9397+14C>T" "r.(?)" "p.(?)" "26i" "" "0000089588" "00023950" "50" "11015" "0" "11015" "0" "c.11015G>A" "r.(?)" "p.(Arg3672Gln)" "37" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: polymorphism; Grantham: 43; AGVGD: C0" "0000089589" "00023950" "70" "11390" "0" "11390" "0" "c.11390A>G" "r.(?)" "p.(Tyr3797Cys)" "40" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 194; AGVGD: C0" "0000089590" "00023950" "70" "11390" "0" "11390" "0" "c.11390A>G" "r.(?)" "p.(Tyr3797Cys)" "40" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 194; AGVGD: C0" "0000089591" "00023950" "70" "11390" "0" "11390" "0" "c.11390A>G" "r.(?)" "p.(Tyr3797Cys)" "40" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 194; AGVGD: C0" "0000089592" "00023950" "50" "9188" "0" "9188" "0" "c.9188G>A" "r.(?)" "p.(Arg3063His)" "25" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 29; AGVGD: C0" "0000089595" "00023950" "50" "11870" "0" "11870" "0" "c.11870G>A" "r.(?)" "p.(Gly3957Asp)" "43" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 94; AGVGD: C15" "0000089596" "00023950" "50" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "22" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 64; AGVGD: C0" "0000089597" "00023950" "50" "9506" "0" "9506" "0" "c.9506G>A" "r.(?)" "p.(Arg3169Gln)" "27" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 43; AGVGD: C0" "0000089598" "00023950" "99" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "4" "" "0000089599" "00023950" "99" "827" "0" "828" "0" "c.827_828insG" "r.(?)" "p.(Pro207Alafs*53)" "5" "" "0000089600" "00023950" "99" "827" "0" "828" "0" "c.827_828insG" "r.(?)" "p.(Pro207Alafs*53)" "5" "" "0000089603" "00023950" "99" "9694" "0" "9694" "0" "c.9694A>T" "r.(?)" "p.(Lys3232*)" "28" "" "0000089604" "00023950" "99" "9674" "0" "9700" "0" "c.9674_9700del" "r.(?)" "p.(Ala3225_Glu3233del)" "28" "" "0000089605" "00023950" "70" "3260" "0" "3260" "0" "c.3260T>G" "r.(?)" "p.(Val1087Gly)" "14" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 109; AGVGD: C35" "0000089606" "00023950" "99" "6916" "-9" "6916" "-9" "c.6916-9G>A" "r.(?)" "p.(?)" "15i" "" "0000089607" "00023950" "99" "5785" "0" "5785" "0" "c.5785G>T" "r.(?)" "p.(Glu1929*)" "15" "" "0000089608" "00023950" "99" "6806" "0" "6806" "0" "c.6806C>G" "r.(?)" "p.(Ser2269*)" "15" "" "0000089609" "00023950" "99" "12458" "0" "12459" "0" "c.12458_12459del" "r.(?)" "p.(Val4153Alafs*3)" "46" "" "0000089610" "00023950" "70" "10167" "25" "10167" "43" "c.10167+25_10167+43del" "r.(?)" "p.(?)" "31i" "" "0000089611" "00023950" "99" "6994" "0" "7000" "0" "c.6994_7000del" "r.(?)" "p.(Ala2332Trpfs*7)" "16" "" "0000089612" "00023950" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Gly536Ser)" "7" "" "0000089613" "00023950" "70" "6643" "0" "6643" "0" "c.6643C>T" "r.(?)" "p.(Arg2215Trp)" "15" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 101; AGVGD: C25" "0000089614" "00023950" "99" "1583" "0" "1583" "0" "c.1583dup" "r.(?)" "p.(Tyr528*)" "7" "" "0000089615" "00023950" "99" "7001" "0" "7002" "0" "c.7001_7002dup" "r.(?)" "p.(Glu2335TrpfsTer7)" "16" "" "0000089616" "00023950" "30" "3162" "-32" "3162" "-32" "c.3162-32G>A" "r.(?)" "p.(?)" "13i" "" "0000089618" "00023950" "50" "5896" "0" "5896" "0" "c.5896G>A" "r.(?)" "p.(Val1966Met)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 21; AGVGD: C0" "0000089619" "00023950" "70" "7271" "0" "7271" "0" "c.7271C>T" "r.(?)" "p.(Thr2424Met)" "18" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 71; AGVGD: C65" "0000089620" "00023950" "70" "8935" "0" "8937" "0" "c.8935_8937del" "r.(?)" "p.(Phe2979del)" "24" "" "0000089621" "00023950" "70" "8935" "0" "8937" "0" "c.8935_8937del" "r.(?)" "p.(Phe2979del)" "24" "" "0000089622" "00023950" "99" "3067" "0" "3067" "0" "c.3067C>T" "r.(?)" "p.(Gln1023*)" "13" "" "0000089623" "00023950" "99" "6994" "0" "7000" "0" "c.6994_7000dup" "r.(?)" "p.(Val2334Glyfs*88)" "16" "" "0000089624" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 98; AGVGD: C65" "0000089625" "00023950" "30" "6534" "0" "6534" "0" "c.6534C>T" "r.(?)" "p.(Cys2178=)" "15" "" "0000089626" "00023950" "99" "11343" "0" "11343" "0" "c.11343C>A" "r.(?)" "p.(Tyr3781*)" "40" "" "0000089627" "00023950" "30" "9501" "0" "9501" "0" "c.9501C>T" "r.(?)" "p.(Ile3167=)" "27" "" "0000089628" "00023950" "99" "5968" "0" "5969" "0" "c.5968_5969del" "r.(?)" "p.(Arg1990Glufs*59)" "15" "" "0000089629" "00023950" "70" "7837" "0" "7839" "0" "c.7837_7839del" "r.(?)" "p.(Leu2613del)" "20" "" "0000089630" "00023950" "50" "11744" "0" "11744" "0" "c.11744C>A" "r.(?)" "p.(Ala3915Asp)" "43" "PolyPhen: benign; SIFT: damaging; MutationTaster: polymorphism; Grantham: 126; AGVGD: C0" "0000089631" "00023950" "99" "10524" "0" "10525" "0" "c.10524_10525insAA" "r.(?)" "p.(Glu3509Lysfs*19)" "35" "" "0000089632" "00023950" "30" "9397" "81" "9397" "81" "c.9397+81C>A" "r.(?)" "p.(?)" "26i" "" "0000089635" "00023950" "50" "11192" "0" "11192" "0" "c.11192T>G" "r.(?)" "p.(Leu3731Arg)" "39" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 102; AGVGD: C45" "0000089636" "00023950" "70" "8935" "0" "8937" "0" "c.8935_8937del" "r.(?)" "p.(Phe2979del)" "24" "" "0000089637" "00023950" "77" "10167" "25" "10167" "43" "c.10167+25_10167+43del" "r.(?)" "p.(?)" "31i" "" "0000089638" "00023950" "99" "5121" "0" "5121" "0" "c.5121G>A" "r.(?)" "p.(Trp1707*)" "15" "" "0000089639" "00023950" "99" "3735" "0" "3741" "0" "c.3735_3741del" "r.(?)" "p.(Phe1245Leufs*25)" "15" "" "0000089640" "00023950" "30" "10221" "-80" "10221" "-80" "c.10221-80del" "r.(?)" "p.(?)" "32i" "" "0000089641" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "5" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 194; AGVGD: C65" "0000089642" "00023950" "99" "7863" "1" "7863" "1" "c.7863+1G>T" "r.spl" "p.?" "20i" "" "0000089643" "00023950" "50" "2695" "0" "2695" "0" "c.2695C>G" "r.(?)" "p.(Leu899Val)" "11" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: polymorphism; Grantham: 32; AGVGD: C25" "0000089646" "00023950" "50" "7822" "0" "7822" "0" "c.7822G>A" "r.(?)" "p.(Val2608Ile)" "20" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 29; AGVGD: C25" "0000089647" "00023950" "30" "4248" "0" "4248" "0" "c.4248T>C" "r.(?)" "p.(Phe1416=)" "15" "" "0000089648" "00023950" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "5" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 58; AGVGD: C0" "0000089649" "00023950" "99" "12354" "0" "12354" "0" "c.12354C>G" "r.(?)" "p.(Tyr4118*)" "45" "" "0000089650" "00023950" "70" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Asn101Ser)" "3" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 46; AGVGD: C45" "0000089651" "00023950" "50" "3602" "0" "3602" "0" "c.3602C>T" "r.(?)" "p.(Ala1201Val)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 64; AGVGD: C0" "0000089652" "00023950" "70" "7427" "0" "7427" "0" "c.7427G>T" "r.(?)" "p.(Cys2476Phe)" "18" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 205; AGVGD: C65" "0000089653" "00023950" "50" "11354" "0" "11354" "0" "c.11354G>T" "r.(?)" "p.(Trp3785Leu)" "40" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 61; AGVGD: C0" "0000089654" "00023950" "50" "7261" "0" "7261" "0" "c.7261A>C" "r.(?)" "p.(Thr2421Pro)" "18" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 38; AGVGD: C0" "0000089655" "00023950" "99" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Gln1236*)" "15" "" "0000089656" "00023950" "70" "7622" "0" "7622" "0" "c.7622C>T" "r.(?)" "p.(Pro2541Leu)" "19" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 98; AGVGD: C65" "0000089657" "00023950" "99" "2189" "0" "2189" "0" "c.2189C>A" "r.(?)" "p.(Ser730*)" "11" "" "0000089659" "00023950" "99" "6472" "0" "6472" "0" "c.6472C>T" "r.(?)" "p.(Gln2158*)" "15" "" "0000089661" "00023950" "99" "5644" "0" "5644" "0" "c.5644dup" "r.(?)" "p.(Thr1882Asnfs*108)" "15" "" "0000089663" "00023950" "99" "6653" "0" "6655" "0" "c.6653_6655del" "r.(?)" "p.(Leu2218del)" "15" "" "0000089664" "00023950" "99" "856" "0" "862" "0" "c.856_862del" "r.(?)" "p.(Gly287fs*1)" "5" "" "0000089665" "00023950" "70" "9370" "0" "9372" "0" "c.9370_9372del" "r.(?)" "p.(Val3124del)" "26" "" "0000089666" "00023950" "99" "7045" "0" "7045" "0" "c.7045del" "r.(?)" "p.Glu2349Argfs*8)" "16" "" "0000089667" "00023950" "99" "1321" "0" "1322" "0" "c.1321_1322ins(13)" "r.(?)" "p.(Gly441Alafs*82)" "6" "" "0000089668" "00023950" "30" "11689" "0" "11689" "0" "c.11689C>T" "r.(?)" "p.(Leu3897Phe)" "42" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 22; AGVGD: C0" "0000089669" "00023950" "30" "10617" "0" "10617" "0" "c.10617A>G" "r.(?)" "p.(Thr3539=)" "35" "" "0000089670" "00023950" "99" "11134" "0" "11134" "0" "c.11134del" "r.(?)" "p.(Arg3712Glyfs*114" "38" "" "0000089671" "00023950" "30" "4248" "0" "4248" "0" "c.4248T>C" "r.(?)" "p.(Phe1416=)" "15" "" "0000089673" "00023950" "99" "12061" "0" "12061" "0" "c.12061C>T" "r.(?)" "p.(Arg4021*)" "44" "" "0000089674" "00023950" "50" "5783" "0" "5783" "0" "c.5783C>G" "r.(?)" "p.(Pro1928Arg)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 103; AGVGD: C15" "0000089677" "00023950" "70" "10043" "0" "10043" "0" "c.10043G>A" "r.(?)" "p.(Arg3348Gln)" "30" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 43; AGVGD: C35" "0000089680" "00023950" "50" "6151" "0" "6151" "0" "c.6151C>T" "r.(?)" "p.(Arg2051Cys)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 180; AGVGD: C0" "0000089681" "00023950" "99" "11537" "2" "11537" "2" "c.11537+2T>A" "r.spl" "p.?" "41i" "" "0000089682" "00023950" "30" "6915" "22" "6915" "22" "c.6915+22C>T" "r.(?)" "p.(?)" "15i" "" "0000089683" "00023950" "30" "2097" "56" "2097" "56" "c.2097+56C>T" "r.(?)" "p.(?)" "10i" "" "0000089684" "00023950" "30" "2097" "56" "2097" "56" "c.2097+56C>T" "r.(?)" "p.(?)" "10i" "" "0000089685" "00023950" "30" "2985" "78" "2985" "78" "c.2985+78C>A" "r.(?)" "p.(?)" "12i" "" "0000089687" "00023950" "30" "8161" "29" "8161" "29" "c.8161+29G>A" "r.(?)" "p.(?)" "22i" "" "0000089688" "00023950" "99" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Gln2062*)" "15" "" "0000089690" "00023950" "99" "2639" "0" "2649" "0" "c.2639_2649del" "r.(?)" "p.(Thr880Argfs*21)" "11" "" "0000089691" "00023950" "30" "2097" "56" "2097" "56" "c.2097+56C>T" "r.(?)" "p.(?)" "10i" "" "0000089692" "00023950" "99" "4551" "0" "4551" "0" "c.4551C>A" "r.(?)" "p.(Tyr1517*)" "15" "" "0000089693" "00023950" "30" "2853" "13" "2853" "13" "c.2853+13G>A" "r.(?)" "p.(?)" "11i" "" "0000089694" "00023950" "30" "7066" "-5" "7066" "-5" "c.7066-5G>A" "r.spl?" "p.(?)" "16i" "" "0000089695" "00023950" "30" "10221" "-51" "10221" "-51" "c.10221-51C>G" "r.(?)" "p.(?)" "32i" "" "0000089696" "00023950" "70" "6397" "0" "6399" "0" "c.6397_6399del" "r.(?)" "p.(Phe2133del)" "15" "" "0000089697" "00023950" "30" "8161" "24" "8161" "24" "c.8161+24C>T" "r.(?)" "p.(?)" "22i" "" "0000089698" "00023950" "70" "6548" "0" "6548" "0" "c.6548C>T" "r.(?)" "p.(Thr2183Ile)" "15" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 89; AGVGD: C0" "0000089699" "00023950" "30" "9397" "151" "9397" "151" "c.9397+151C>G" "r.(?)" "p.(?)" "26i" "" "0000089700" "00023950" "30" "9397" "169" "9397" "169" "c.9397+169C>G" "r.(?)" "p.(?)" "26i" "" "0000089702" "00023950" "30" "2985" "16" "2985" "51" "c.2985+16_2985+51del" "r.(=)" "p.(=)" "12i" "" "0000089703" "00023950" "30" "10051" "-26" "10051" "-26" "c.10051-26C>T" "r.(?)" "p.(?)" "30i" "" "0000089704" "00023950" "30" "3162" "-129" "3162" "-129" "c.3162-129G>A" "r.(?)" "p.(?)" "13i" "" "0000089705" "00023950" "30" "9397" "171" "9397" "171" "c.9397+171C>G" "r.(?)" "p.(?)" "26i" "" "0000089706" "00023950" "99" "4369" "0" "4370" "0" "c.4369_4370del" "r.(?)" "p.(Ser1457fs*65)" "15" "" "0000089707" "00023950" "30" "8162" "-37" "8162" "-37" "c.8162-37C>T" "r.(?)" "p.(?)" "22i" "" "0000089708" "00023950" "50" "10678" "0" "10678" "0" "c.10678G>A" "r.(?)" "p.(Gly3560Arg)" "36" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 125; AGVGD: C0" "0000089709" "00023950" "70" "12460" "0" "12460" "0" "c.12460C>T" "r.(?)" "p.(Arg4154Cys)" "46" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 180; AGVGD: C65" "0000089711" "00023950" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Thr779=)" "11" "" "0000089712" "00023950" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Thr779=)" "11" "" "0000089713" "00023950" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Thr779=)" "11" "" "0000089714" "00023950" "70" "8681" "0" "8689" "0" "c.8681_8689dup" "r.(?)" "p.(Val2897Ala, 2897_2898insArgSerVal" "23" "" "0000089715" "00023950" "99" "7859" "0" "7863" "0" "c.7859_7863del" "r.(?)" "p.Asn2620Ilefs*39" "20" "" "0000089717" "00023950" "50" "11354" "0" "11354" "0" "c.11354G>C" "r.(?)" "p.(Trp3785Ser)" "40" "PolyPhen: benign; SIFT: damaging; MutationTaster: disease causing; Grantham: 177; AGVGD: C0" "0000089718" "00023950" "30" "8162" "-73" "8162" "-73" "c.8162-73G>A" "r.(?)" "p.(?)" "22i" "" "0000089720" "00023950" "99" "3671" "0" "3688" "0" "c.3671_3688del" "r.(?)" "p.(Glu1224_Val1229del)" "15" "" "0000089721" "00023950" "50" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "22" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 64; AGVGD: C0" "0000089722" "00023950" "30" "10822" "-23" "10822" "-23" "c.10822-23C>T" "r.(?)" "p.(?)" "36i" "" "0000089723" "00023950" "50" "6325" "0" "6325" "0" "c.6325A>G" "r.(?)" "p(Arg2109Gly)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 125; AGVGD: C0" "0000089724" "00023950" "30" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "5" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 102; AGVGD: C0" "0000089726" "00023950" "30" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Ala1422Thr)" "15" "" "0000089727" "00023950" "50" "5435" "0" "5435" "0" "c.5435C>T" "r.(?)" "p.(Pro1812Leu)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 98; AGVGD: C0" "0000089728" "00023950" "99" "5937" "0" "5937" "0" "c.5937C>A" "r.(?)" "p.(Cys1979*)" "15" "" "0000089729" "00023950" "99" "8017" "-2" "8017" "-1" "c.8017-2_8017-1del" "r.spl" "p.(?)" "21i" "" "0000089730" "00023950" "50" "6500" "0" "6500" "0" "c.6500A>T" "r.(?)" "p.(Asn2167Thr)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 65; AGVGD: C0" "0000089731" "00023950" "99" "160" "0" "166" "0" "c.160_166dup" "r.(?)" "p.(Leu56Profs*60)" "1" "" "0000089732" "00023950" "99" "10009" "0" "10009" "0" "c.10009dup" "r.(?)" "p.(Tyr3337LeufsTer53)" "30" "" "0000089733" "00023950" "30" "216" "-49" "216" "-49" "c.216-49C>T" "r.(?)" "p.(?)" "1i" "" "0000089734" "00023950" "99" "3067" "0" "3067" "0" "c.3067C>T" "r.(?)" "p.(Gln1023*)" "13" "" "0000089735" "00023950" "50" "11870" "0" "11870" "0" "c.11870G>A" "r.(?)" "p.(Gly3957Asp)" "43" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 94; AGVGD: C0" "0000089739" "00023950" "99" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672Glyfs*97)" "15" "" "0000089740" "00023950" "99" "11884" "0" "11884" "0" "c.11884C>T" "r.(?)" "p.(Gln3962*)" "43" "" "0000089741" "00023950" "99" "7579" "0" "7580" "0" "c.7579_7580del" "r.(?)" "p.(Val2527Leufs*66)" "19" "" "0000089742" "00023950" "99" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Gln3982*)" "43" "" "0000089743" "00023950" "30" "10281" "0" "10281" "0" "c.10281G>A" "r.(?)" "p.(Pro3427=)" "33" "" "0000089744" "00023950" "70" "10651" "0" "10651" "0" "c.10651C>T" "r.(?)" "p.(Pro3551Ser)" "36" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 74; AGVGD: C85" "0000089745" "00023950" "50" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Pro2070Arg)" "15" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 103; AGVGD: C0" "0000089746" "00023950" "99" "6806" "0" "6806" "0" "c.6806C>G" "r.(?)" "p.(Ser2269*)" "15" "" "0000089747" "00023950" "30" "11412" "-48" "11412" "-48" "c.11412-48del" "r.(?)" "p.(?)" "40i" "" "0000089748" "00023950" "50" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Pro1127Leu)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 98; AGVGD: C0" "0000089749" "00023950" "30" "10821" "16" "10821" "16" "c.10821+16G>C" "r.(?)" "p.(?)" "36i" "" "0000089750" "00023950" "30" "11411" "11" "11411" "11" "c.11411+11dup" "r.(=)" "p.(=)" "40i" "" "0000089751" "00023950" "99" "6050" "0" "6050" "0" "c.6050C>A" "r.(?)" "p.(Ser2017*)" "15" "" "0000089752" "00023950" "70" "12442" "0" "12442" "0" "c.12442G>A" "r.(?)" "p.(Glu4148Lys)" "45" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 56; AGVGD: C55" "0000089754" "00023950" "30" "6915" "39" "6915" "39" "c.6915+39C>T" "r.(?)" "p.(?)" "15i" "" "0000089755" "00023950" "30" "12138" "47" "12138" "51" "c.12138+47_12138+51del" "r.(?)" "p.(?)" "44i" "" "0000089756" "00023950" "70" "9416" "0" "9416" "0" "c.9416G>A" "r.(?)" "p.(Gly3139Asp)" "27" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 94; AGVGD: C65" "0000089757" "00023950" "30" "12789" "0" "12789" "0" "c.12789C>G" "r.(?)" "p.(Ser4263=)" "46" "" "0000089758" "00023950" "99" "10614" "0" "10615" "0" "c.10614_10615dup" "r.(?)" "p.(Thr3539ArgfsTer47)" "35" "" "0000089759" "00023950" "50" "4136" "0" "4136" "0" "c.4136A>T" "r.(?)" "p.(Glu1379Val)" "15" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 121; AGVGD: C0" "0000089760" "00023950" "30" "8161" "29" "8161" "29" "c.8161+29G>A" "r.(?)" "p.(?)" "22i" "" "0000089761" "00023950" "30" "11713" "-29" "11713" "-29" "c.11713-29T>G" "r.(?)" "p.(?)" "42i" "" "0000089762" "00023950" "30" "11016" "28" "11016" "28" "c.11016+28G>A" "r.(?)" "p.(?)" "37i" "" "0000089763" "00023950" "50" "12742" "0" "12742" "0" "c.12742G>C" "r.(?)" "p.(Gly4248Arg)" "46" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: polymorphism; Grantham: 125; AGVGD: C0" "0000089764" "00023950" "50" "11099" "0" "11099" "0" "c.11099G>T" "r.(?)" "p.(Arg3700Leu)" "38" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 102; AGVGD: C0" "0000089765" "00023950" "30" "10167" "12" "10167" "12" "c.10167+12A>G" "r.(?)" "p.(?)" "31i" "" "0000089766" "00023950" "50" "9499" "0" "9499" "0" "c.9499A>T" "r.(?)" "p.(Ile3167Phe)" "27" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 21; AGVGD: C0" "0000089768" "00023950" "30" "7476" "0" "7476" "0" "c.7476C>T" "r.(?)" "p.(His2492=)" "18" "" "0000089769" "00023950" "30" "10221" "-36" "10221" "-36" "c.10221-36A>C" "r.(?)" "p.(?)" "32i" "" "0000089770" "00023950" "50" "9804" "0" "9804" "0" "c.9804C>A" "r.(?)" "p.(Asp3268Glu)" "29" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 45; AGVGD: C0" "0000089771" "00023950" "99" "5128" "0" "5129" "0" "c.5128_5129del" "r.(?)" "p.(Cys1710Hisfs*60)" "15" "" "0000089772" "00023950" "99" "8338" "0" "8338" "0" "c.8338G>T" "r.(?)" "p.(Glu2780*)" "23" "" "0000089773" "00023950" "50" "7463" "0" "7463" "0" "c.7463C>T" "r.(?)" "p.(Thr2488Ile)" "18" "PolyPhen: possibly damaging; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 89; AGVGD: C0" "0000089774" "00023950" "99" "12035" "0" "12035" "0" "c.12035G>A" "r.(?)" "p.(Trp4012*)" "44" "" "0000089775" "00023950" "50" "8761" "0" "8761" "0" "c.8761C>T" "r.(?)" "p.(His2921Tyr)" "23" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 83; AGVGD: C0" "0000089776" "00023950" "50" "10654" "0" "10654" "0" "c.10654G>T" "r.(?)" "p.(Ala3552Ser)" "36" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 99; AGVGD: C0" "0000089777" "00023950" "50" "2600" "0" "2600" "0" "c.2600G>C" "r.(?)" "p.(Ser867Thr)" "11" "PolyPhen: benign; SIFT: Tolerated; MutationTaster: polymorphism; Grantham: 58; AGVGD: C0" "0000089778" "00023950" "50" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "15" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 81; AGVGD: C15" "0000089779" "00023950" "50" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "PolyPhen: possibly damaging; SIFT: damaging; MutationTaster: disease causing; Grantham: 101; AGVGD: C25" "0000089780" "00023950" "50" "2695" "0" "2695" "0" "c.2695C>G" "r.(?)" "p.(Leu899Val)" "11" "PolyPhen: probably damaging; SIFT: damaging; MutationTaster: polymorphism; Grantham: 32; AGVGD: C25" "0000089781" "00023950" "30" "7476" "0" "7476" "0" "c.7476C>T" "r.(?)" "p.(His2492=)" "18" "" "0000089782" "00023950" "30" "10168" "-36" "10168" "-36" "c.10168-36G>C" "r.(?)" "p.(=)" "31i" "" "0000130297" "00023950" "70" "7174" "0" "7174" "0" "c.7174del" "r.(?)" "p.(Arg2392Alafs*228)" "" "" "0000140437" "00023950" "55" "12897" "0" "12897" "0" "c.12897C>T" "r.(=)" "p.(=)" "46" "" "0000140438" "00023950" "55" "12890" "0" "12890" "0" "c.12890A>G" "r.(?)" "p.(Lys4297Arg)" "46" "" "0000140439" "00023950" "55" "12780" "0" "12780" "0" "c.12780T>C" "r.(=)" "p.(=)" "46" "" "0000140440" "00023950" "55" "12630" "0" "12630" "0" "c.12630T>C" "r.(=)" "p.(=)" "46" "" "0000140441" "00023950" "55" "12409" "0" "12409" "0" "c.12409C>T" "r.(=)" "p.(=)" "45" "" "0000140442" "00023950" "55" "12276" "0" "12276" "0" "c.12276A>G" "r.(=)" "p.(=)" "45" "" "0000140443" "00023950" "55" "12276" "0" "12276" "0" "c.12276A>G" "r.(=)" "p.(=)" "45" "" "0000140444" "00023950" "55" "12182" "0" "12182" "0" "c.12182C>T" "r.(?)" "p.(Ala4061Val)" "45" "" "0000140445" "00023950" "55" "12176" "0" "12176" "0" "c.12176C>T" "r.(?)" "p.(Ala4059Val)" "45" "" "0000140446" "00023950" "55" "12176" "0" "12176" "0" "c.12176C>T" "r.(?)" "p.(Ala4059Val)" "45" "" "0000140447" "00023950" "55" "12133" "0" "12133" "0" "c.12133A>G" "r.(?)" "p.(Ile4045Val)" "44" "" "0000140448" "00023950" "55" "12133" "0" "12133" "0" "c.12133A>G" "r.(?)" "p.(Ile4045Val)" "44" "" "0000140449" "00023950" "55" "11916" "0" "11916" "0" "c.11916C>T" "r.(=)" "p.(=)" "43" "" "0000140450" "00023950" "55" "11682" "0" "11682" "0" "c.11682C>T" "r.(=)" "p.(=)" "42" "" "0000140451" "00023950" "99" "11554" "0" "11554" "0" "c.11554del" "r.(?)" "p.(Leu3852Trpfs*93)" "42" "" "0000140452" "00023950" "99" "11412" "-3" "11412" "-3" "c.11412-3C>A" "r.spl?" "p.?" "40i" "" "0000140453" "00023950" "55" "10768" "0" "10768" "0" "c.10768C>T" "r.(=)" "p.(=)" "36" "" "0000140454" "00023950" "55" "10535" "0" "10535" "0" "c.10535C>T" "r.(?)" "p.(Ala3512Val)" "35" "" "0000140455" "00023950" "55" "9957" "0" "9957" "0" "c.9957C>T" "r.(=)" "p.(=)" "30" "" "0000140456" "00023950" "99" "9397" "1" "9397" "1" "c.9397+1G>A" "r.spl?" "p.?" "26i" "" "0000140457" "00023950" "55" "9330" "0" "9330" "0" "c.9330T>C" "r.(=)" "p.(=)" "26" "" "0000140458" "00023950" "99" "9324" "0" "9324" "0" "c.9324del" "r.(?)" "p.(Ile3109Serfs*207)" "26" "" "0000140459" "00023950" "55" "9195" "0" "9196" "0" "c.9195_9196delinsCC" "r.(?)" "p.(Phe3066Leu)" "25" "" "0000140460" "00023950" "55" "9195" "0" "9195" "0" "c.9195G>C" "r.(=)" "p.(=)" "25" "" "0000140461" "00023950" "55" "9187" "0" "9187" "0" "c.9187C>T" "r.(?)" "p.(Arg3063Cys)" "25" "" "0000140462" "00023950" "99" "9034" "0" "9039" "0" "c.9034_9039del" "r.(?)" "p.(Thr3012_Ser3013del)" "25" "" "0000140463" "00023950" "99" "8859" "0" "8859" "0" "c.8859dup" "r.(?)" "p.(Glu2954*)" "24" "" "0000140464" "00023950" "55" "8440" "0" "8440" "0" "c.8440G>A" "r.(?)" "p.(Gly2814Arg)" "23" "" "0000140465" "00023950" "99" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "23" "" "0000140466" "00023950" "55" "8161" "8" "8161" "8" "c.8161+8G>A" "r.(=)" "p.(=)" "22i" "" "0000140467" "00023950" "55" "8123" "0" "8123" "0" "c.8123C>T" "r.(?)" "p.(Thr2708Met)" "22" "" "0000140468" "00023950" "55" "8020" "0" "8020" "0" "c.8020C>T" "r.(?)" "p.(Pro2674Ser)" "22" "" "0000140469" "00023950" "99" "8017" "-2" "8017" "-1" "c.8017-2_8017-1del" "r.spl?" "p.?" "21i" "" "0000140470" "00023950" "99" "7940" "0" "7940" "0" "c.7940C>T" "r.(?)" "p.(Thr2647Met)" "21" "" "0000140471" "00023950" "55" "7913" "0" "7913" "0" "c.7913A>G" "r.(?)" "p.(His2638Arg)" "21" "" "0000140472" "00023950" "55" "7708" "0" "7708" "0" "c.7708T>C" "r.(=)" "p.(=)" "20" "" "0000140473" "00023950" "55" "7441" "0" "7441" "0" "c.7441C>T" "r.(=)" "p.(=)" "18" "" "0000140474" "00023950" "99" "7214" "0" "7214" "0" "c.7214G>T" "r.(?)" "p.(Trp2405Leu)" "18" "" "0000140475" "00023950" "55" "7165" "0" "7165" "0" "c.7165T>C" "r.(=)" "p.(=)" "17" "" "0000140476" "00023950" "99" "6994" "0" "7000" "0" "c.6994_7000dup" "r.(?)" "p.(Val2334Glyfs*88)" "16" "" "0000140477" "00023950" "55" "6986" "0" "6986" "0" "c.6986G>A" "r.(?)" "p.(Arg2329Gln)" "16" "" "0000140478" "00023950" "99" "6657" "0" "6671" "0" "c.6657_6671del" "r.(?)" "p.(Arg2220_Pro2224del)" "15" "" "0000140479" "00023950" "55" "6488" "0" "6488" "0" "c.6488G>A" "r.(?)" "p.(Arg2163Gln)" "15" "" "0000140480" "00023950" "99" "6223" "0" "6224" "0" "c.6223_6224insTT" "r.(?)" "p.(Arg2075Leufs*42)" "15" "" "0000140481" "00023950" "55" "5763" "0" "5763" "0" "c.5763G>A" "r.(=)" "p.(=)" "15" "" "0000140482" "00023950" "55" "5172" "0" "5172" "0" "c.5172C>T" "r.(=)" "p.(=)" "15" "" "0000140483" "00023950" "99" "4968" "0" "4969" "0" "c.4968_4969delinsC" "r.(?)" "p.(Arg1657Glyfs*65)" "15" "" "0000140484" "00023950" "55" "4968" "0" "4968" "0" "c.4968T>C" "r.(=)" "p.(=)" "15" "" "0000140485" "00023950" "55" "4917" "0" "4917" "0" "c.4917C>T" "r.(=)" "p.(=)" "15" "" "0000140486" "00023950" "55" "4674" "0" "4674" "0" "c.4674G>A" "r.(=)" "p.(=)" "15" "" "0000140487" "00023950" "55" "4665" "0" "4665" "0" "c.4665A>C" "r.(=)" "p.(=)" "15" "" "0000140488" "00023950" "55" "4665" "0" "4665" "0" "c.4665A>C" "r.(=)" "p.(=)" "15" "" "0000140489" "00023950" "55" "4475" "0" "4475" "0" "c.4475G>C" "r.(?)" "p.(Arg1492Pro)" "15" "" "0000140490" "00023950" "99" "4248" "0" "4248" "0" "c.4248dup" "r.(?)" "p.(Gly1417Trpfs*14)" "15" "" "0000140491" "00023950" "55" "4195" "0" "4195" "0" "c.4195T>C" "r.(?)" "p.(Trp1399Arg)" "15" "" "0000140492" "00023950" "55" "3643" "0" "3643" "0" "c.3643C>G" "r.(?)" "p.(Leu1215Val)" "15" "" "0000140493" "00023950" "55" "3513" "0" "3513" "0" "c.3513C>G" "r.(=)" "p.(=)" "15" "" "0000140494" "00023950" "55" "3375" "0" "3375" "0" "c.3375C>T" "r.(=)" "p.(=)" "15" "" "0000140495" "00023950" "55" "3372" "0" "3372" "0" "c.3372C>T" "r.(=)" "p.(=)" "15" "" "0000140496" "00023950" "55" "3275" "0" "3275" "0" "c.3275T>C" "r.(?)" "p.(Met1092Thr)" "14" "" "0000140497" "00023950" "55" "3111" "0" "3111" "0" "c.3111A>G" "r.(=)" "p.(=)" "13" "" "0000140498" "00023950" "55" "3100" "0" "3100" "0" "c.3100A>G" "r.(?)" "p.(Asn1034Asp)" "13" "" "0000140499" "00023950" "55" "3063" "0" "3063" "0" "c.3063T>C" "r.(=)" "p.(=)" "13" "" "0000140500" "00023950" "55" "2730" "0" "2730" "0" "c.2730C>T" "r.(=)" "p.(=)" "11" "" "0000140501" "00023950" "55" "2700" "0" "2700" "0" "c.2700G>A" "r.(=)" "p.(=)" "11" "" "0000140502" "00023950" "55" "2694" "0" "2694" "0" "c.2694A>C" "r.(=)" "p.(=)" "11" "" "0000140503" "00023950" "99" "2681" "0" "2690" "0" "c.2681_2690del" "r.(?)" "p.(Phe894*)" "11" "" "0000140504" "00023950" "99" "2269" "0" "2269" "0" "c.2269del" "r.(?)" "p.(Gln757Serfs*28)" "11" "" "0000140505" "00023950" "55" "2109" "0" "2109" "0" "c.2109C>T" "r.(=)" "p.(=)" "11" "" "0000140506" "00023950" "55" "1850" "-4" "1850" "-4" "c.1850-4A>G" "r.spl?" "p.?" "9i" "" "0000140507" "00023950" "55" "1602" "0" "1602" "0" "c.1602C>T" "r.(=)" "p.(=)" "7" "" "0000140508" "00023950" "99" "1286" "0" "1286" "0" "c.1286G>T" "r.(?)" "p.(Trp429Leu)" "6" "" "0000140509" "00023950" "99" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Cys)" "6" "" "0000140510" "00023950" "55" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "1" "" "0000140511" "00023950" "55" "129" "0" "129" "0" "c.129C>T" "r.(=)" "p.(=)" "1" "" "0000140512" "00023950" "55" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Pro41Leu)" "1" "" "0000140513" "00023950" "55" "96" "0" "96" "0" "c.96C>T" "r.(=)" "p.(=)" "1" "" "0000147094" "00023950" "90" "8311" "0" "8311" "0" "c.8311del" "r.(?)" "p.(Glu2771Argfs*4)" "23" "" "0000147095" "00023950" "50" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Pro579Leu)" "9" "" "0000169392" "00023950" "00" "8123" "0" "8123" "0" "c.8123C>T" "r.(?)" "p.(Thr2708Met)" "" "" "0000169437" "00023950" "00" "10876" "0" "10876" "0" "c.10876G>A" "r.(?)" "p.(Glu3626Lys)" "" "" "0000221917" "00023950" "90" "2329" "0" "2329" "0" "c.2329C>T" "r.(?)" "p.(Gln777*)" "11" "" "0000221947" "00023950" "90" "9051" "0" "9051" "0" "c.9051C>A" "r.(?)" "p.(Tyr3017*)" "25" "" "0000221948" "00023950" "90" "12168" "0" "12168" "0" "c.12168G>A" "r.(?)" "p.(Trp4056*)" "45" "" "0000221951" "00023950" "70" "11424" "0" "11424" "0" "c.11424G>A" "r.(?)" "p.(Trp3808*)" "41" "" "0000221957" "00023950" "90" "9760" "0" "9760" "0" "c.9760C>T" "r.(?)" "p.(Gln3254*)" "29" "" "0000221958" "00023950" "90" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Gln1962*)" "15" "" "0000221962" "00023950" "90" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Gln493*)" "7" "" "0000221963" "00023950" "90" "7126" "0" "7126" "0" "c.7126C>T" "r.(?)" "p.(Gln2376*)" "17" "" "0000222060" "00023950" "70" "9760" "0" "9760" "0" "c.9760C>T" "r.(?)" "p.(Gln3254*)" "29" "" "0000222061" "00023950" "70" "9852" "0" "9852" "0" "c.9852C>A" "r.(?)" "p.(Cys3284*)" "29" "" "0000222105" "00023950" "70" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Gln1997*)" "15" "" "0000222106" "00023950" "70" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Gln2062*)" "15" "" "0000222713" "00023950" "70" "2494" "0" "2494" "0" "c.2494dup" "r.(?)" "p.(Arg832Profs*40)" "11" "" "0000222717" "00023950" "90" "3210" "0" "3222" "0" "c.3210_3222del" "r.(?)" "p.(Tyr1071Serfs*29)" "14" "" "0000222718" "00023950" "70" "3398" "0" "3399" "0" "c.3398_3399del" "r.(?)" "p.(Val1133Glufs*2)" "15" "" "0000222719" "00023950" "70" "484" "0" "484" "0" "c.484del" "r.(?)" "p.(Ala162Leufs*128)" "4" "" "0000222795" "00023950" "70" "10700" "0" "10700" "0" "c.10700dup" "r.(?)" "p.(Val3568Cysfs*59)" "36" "" "0000222796" "00023950" "70" "10904" "0" "10904" "0" "c.10904del" "r.(?)" "p.(Ala3635Valfs*2)" "37" "" "0000222797" "00023950" "70" "12308" "0" "12308" "0" "c.12308del" "r.(?)" "p.(Ala4103Valfs*95)" "45" "" "0000222799" "00023950" "70" "8824" "0" "8824" "0" "c.8824del" "r.(?)" "p.(Leu2942Trpfs*52)" "24" "" "0000236406" "00023950" "70" "3735" "0" "3741" "0" "c.3735_3741del" "r.(?)" "p.(Phe1245Leufs*26)" "15" "" "0000236407" "00023950" "70" "4631" "0" "4640" "0" "c.4631_4640del" "r.(?)" "p.(Val1544Alafs*16)" "15" "" "0000236411" "00023950" "70" "12232" "0" "12241" "0" "c.12232_12241del" "r.(?)" "p.(Glu4078Thrfs*117)" "45" "" "0000236473" "00023950" "70" "5536" "0" "5536" "0" "c.5536del" "r.(?)" "p.(Ser1846Alafs*103)" "15" "" "0000236474" "00023950" "70" "11635" "0" "11645" "0" "c.11635_11645del" "r.(?)" "p.(Ala3879Profs*78)" "42" "" "0000236475" "00023950" "70" "12011" "0" "12011" "0" "c.12011dup" "r.(?)" "p.(Gln4005Alafs*152)" "44" "" "0000247360" "00023950" "30" "49248" "0" "49248" "0" "c.*36336T>A" "r.(=)" "p.(=)" "" "" "0000247361" "00023950" "30" "25045" "0" "25045" "0" "c.*12133T>C" "r.(=)" "p.(=)" "" "" "0000247365" "00023950" "10" "14422" "0" "14422" "0" "c.*1510T>G" "r.(=)" "p.(=)" "" "" "0000247391" "00023950" "30" "39642" "0" "39642" "0" "c.*26730T>C" "r.(=)" "p.(=)" "" "" "0000247396" "00023950" "30" "25006" "0" "25006" "0" "c.*12094T>C" "r.(=)" "p.(=)" "" "" "0000248110" "00023950" "30" "25045" "0" "25045" "0" "c.*12133T>C" "r.(=)" "p.(=)" "" "" "0000248169" "00023950" "50" "47117" "0" "47117" "0" "c.*34205T>C" "r.(=)" "p.(=)" "" "" "0000248181" "00023950" "10" "14422" "0" "14422" "0" "c.*1510T>G" "r.(=)" "p.(=)" "" "" "0000249399" "00023950" "30" "30801" "0" "30801" "0" "c.*17889T>C" "r.(=)" "p.(=)" "" "" "0000249461" "00023950" "30" "38237" "0" "38237" "0" "c.*25325T>C" "r.(=)" "p.(=)" "" "" "0000249827" "00023950" "50" "48216" "0" "48216" "0" "c.*35304T>C" "r.(=)" "p.(=)" "" "" "0000249930" "00023950" "30" "49248" "0" "49248" "0" "c.*36336T>A" "r.(=)" "p.(=)" "" "" "0000249939" "00023950" "30" "22315" "0" "22315" "0" "c.*9403T>C" "r.(=)" "p.(=)" "" "" "0000250563" "00023950" "50" "26810" "0" "26810" "0" "c.*13898T>G" "r.(=)" "p.(=)" "" "" "0000250884" "00023950" "10" "14422" "0" "14422" "0" "c.*1510T>G" "r.(=)" "p.(=)" "" "" "0000251164" "00023950" "10" "4195" "0" "4195" "0" "c.4195T>C" "r.(?)" "p.(Trp1399Arg)" "" "" "0000253154" "00023950" "10" "49248" "0" "49248" "0" "c.*36336T>A" "r.(=)" "p.(=)" "" "" "0000253163" "00023950" "10" "22315" "0" "22315" "0" "c.*9403T>C" "r.(=)" "p.(=)" "" "" "0000253482" "00023950" "10" "37064" "0" "37064" "0" "c.*24152T>C" "r.(=)" "p.(=)" "" "" "0000253573" "00023950" "10" "37012" "0" "37012" "0" "c.*24100T>C" "r.(=)" "p.(=)" "" "" "0000253581" "00023950" "10" "18000" "0" "18000" "0" "c.*5088T>G" "r.(=)" "p.(=)" "" "" "0000253625" "00023950" "10" "43885" "0" "43885" "0" "c.*30973T>C" "r.(=)" "p.(=)" "" "" "0000253658" "00023950" "10" "12630" "0" "12630" "0" "c.12630T>C" "r.(?)" "p.(Pro4210=)" "" "" "0000253723" "00023950" "10" "14090" "0" "14090" "0" "c.*1178T>A" "r.(=)" "p.(=)" "" "" "0000253890" "00023950" "10" "29818" "0" "29818" "0" "c.*16906T>C" "r.(=)" "p.(=)" "" "" "0000253891" "00023950" "10" "25045" "0" "25045" "0" "c.*12133T>G" "r.(=)" "p.(=)" "" "" "0000253892" "00023950" "10" "23393" "0" "23393" "0" "c.*10481T>C" "r.(=)" "p.(=)" "" "" "0000253893" "00023950" "10" "17489" "0" "17489" "0" "c.*4577T>C" "r.(=)" "p.(=)" "" "" "0000253894" "00023950" "10" "16163" "0" "16163" "0" "c.*3251del" "r.(?)" "p.(=)" "" "" "0000254100" "00023950" "30" "25045" "0" "25045" "0" "c.*12133T>C" "r.(=)" "p.(=)" "" "" "0000254334" "00023950" "30" "10407" "0" "10407" "0" "c.10407T>A" "r.(?)" "p.(Asp3469Glu)" "" "" "0000255301" "00023950" "30" "52135" "0" "52135" "0" "c.*39223T>C" "r.(=)" "p.(=)" "" "" "0000255302" "00023950" "30" "23145" "0" "23145" "0" "c.*10233T>C" "r.(=)" "p.(=)" "" "" "0000255303" "00023950" "30" "9924" "-9" "9924" "-9" "c.9924-9T>A" "r.(=)" "p.(=)" "" "" "0000255417" "00023950" "90" "40670" "0" "40670" "0" "c.*27758T>C" "r.(=)" "p.(=)" "" "" "0000255426" "00023950" "90" "17375" "0" "17375" "0" "c.*4463T>G" "r.(=)" "p.(=)" "" "" "0000255440" "00023950" "90" "40653" "0" "40653" "0" "c.*27741T>A" "r.(=)" "p.(=)" "" "" "0000255454" "00023950" "90" "45476" "0" "45476" "0" "c.*32564T>G" "r.(=)" "p.(=)" "" "" "0000255465" "00023950" "90" "26534" "0" "26534" "0" "c.*13622del" "r.(?)" "p.(=)" "" "" "0000255468" "00023950" "90" "53990" "0" "53990" "0" "c.*41078T>A" "r.(=)" "p.(=)" "" "" "0000255477" "00023950" "90" "15845" "0" "15845" "0" "c.*2933T>A" "r.(=)" "p.(=)" "" "" "0000255509" "00023950" "90" "54005" "0" "54005" "0" "c.*41093T>A" "r.(=)" "p.(=)" "" "" "0000255553" "00023950" "90" "20985" "0" "20985" "0" "c.*8073del" "r.(?)" "p.(=)" "" "" "0000255558" "00023950" "90" "15829" "0" "15829" "0" "c.*2917T>C" "r.(=)" "p.(=)" "" "" "0000255559" "00023950" "90" "15805" "0" "15805" "0" "c.*2893T>C" "r.(=)" "p.(=)" "" "" "0000255561" "00023950" "90" "14382" "0" "14382" "0" "c.*1470del" "r.(?)" "p.(=)" "" "" "0000255583" "00023950" "90" "14709" "0" "14709" "0" "c.*1797T>G" "r.(=)" "p.(=)" "" "" "0000255586" "00023950" "90" "41827" "0" "41827" "0" "c.*28915T>G" "r.(=)" "p.(=)" "" "" "0000255587" "00023950" "90" "38303" "0" "38303" "0" "c.*25391del" "r.(?)" "p.(=)" "" "" "0000255600" "00023950" "90" "53888" "0" "53888" "0" "c.*40976T>A" "r.(=)" "p.(=)" "" "" "0000255622" "00023950" "90" "22265" "0" "22265" "0" "c.*9353T>G" "r.(=)" "p.(=)" "" "" "0000255667" "00023950" "90" "32107" "0" "32107" "0" "c.*19195T>C" "r.(=)" "p.(=)" "" "" "0000255700" "00023950" "90" "48345" "0" "48345" "0" "c.*35433T>C" "r.(=)" "p.(=)" "" "" "0000255701" "00023950" "90" "48345" "0" "48345" "0" "c.*35433T>A" "r.(=)" "p.(=)" "" "" "0000255702" "00023950" "90" "46445" "0" "46445" "0" "c.*33533T>C" "r.(=)" "p.(=)" "" "" "0000255703" "00023950" "90" "39669" "0" "39669" "0" "c.*26757T>C" "r.(=)" "p.(=)" "" "" "0000255704" "00023950" "90" "38369" "0" "38369" "0" "c.*25457T>C" "r.(=)" "p.(=)" "" "" "0000255705" "00023950" "90" "31131" "0" "31131" "0" "c.*18219T>C" "r.(=)" "p.(=)" "" "" "0000255706" "00023950" "90" "30400" "0" "30400" "0" "c.*17488T>C" "r.(=)" "p.(=)" "" "" "0000255707" "00023950" "90" "29792" "0" "29792" "0" "c.*16880T>C" "r.(=)" "p.(=)" "" "" "0000255708" "00023950" "90" "28441" "0" "28441" "0" "c.*15529T>G" "r.(=)" "p.(=)" "" "" "0000255709" "00023950" "90" "26150" "0" "26150" "0" "c.*13238T>C" "r.(=)" "p.(=)" "" "" "0000255710" "00023950" "90" "18413" "0" "18413" "0" "c.*5501T>C" "r.(=)" "p.(=)" "" "" "0000255711" "00023950" "90" "17690" "0" "17690" "0" "c.*4778T>G" "r.(=)" "p.(=)" "" "" "0000255712" "00023950" "90" "15909" "0" "15909" "0" "c.*2997T>C" "r.(=)" "p.(=)" "" "" "0000255713" "00023950" "90" "14593" "0" "14593" "0" "c.*1681T>C" "r.(=)" "p.(=)" "" "" "0000255807" "00023950" "50" "47117" "0" "47117" "0" "c.*34205T>C" "r.(=)" "p.(=)" "" "" "0000256168" "00023950" "50" "41893" "0" "41893" "0" "c.*28981T>C" "r.(=)" "p.(=)" "" "" "0000256204" "00023950" "50" "26057" "0" "26057" "0" "c.*13145T>C" "r.(=)" "p.(=)" "" "" "0000256718" "00023950" "50" "39687" "0" "39687" "0" "c.*26775T>C" "r.(=)" "p.(=)" "" "" "0000256719" "00023950" "50" "30273" "0" "30273" "0" "c.*17361T>G" "r.(=)" "p.(=)" "" "" "0000293267" "00023950" "30" "54779" "0" "54779" "0" "c.*41867A>G" "r.(=)" "p.(=)" "" "" "0000293269" "00023950" "10" "54928" "0" "54928" "0" "c.*42016C>T" "r.(=)" "p.(=)" "" "" "0000293270" "00023950" "10" "54947" "0" "54947" "0" "c.*42035G>A" "r.(=)" "p.(=)" "" "" "0000293271" "00023950" "10" "56256" "0" "56256" "0" "c.*43344C>T" "r.(=)" "p.(=)" "" "" "0000293272" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000293273" "00023950" "30" "58897" "0" "58897" "0" "c.*45985C>G" "r.(=)" "p.(=)" "" "" "0000293780" "00023950" "10" "14056" "0" "14056" "0" "c.*1144C>G" "r.(=)" "p.(=)" "" "" "0000293781" "00023950" "10" "14094" "0" "14094" "0" "c.*1182C>T" "r.(=)" "p.(=)" "" "" "0000293782" "00023950" "30" "14107" "0" "14107" "0" "c.*1195G>A" "r.(=)" "p.(=)" "" "" "0000293783" "00023950" "30" "14145" "0" "14145" "0" "c.*1233G>A" "r.(=)" "p.(=)" "" "" "0000293784" "00023950" "30" "14208" "0" "14208" "0" "c.*1296G>A" "r.(=)" "p.(=)" "" "" "0000293785" "00023950" "10" "14371" "0" "14371" "0" "c.*1459A>G" "r.(=)" "p.(=)" "" "" "0000293786" "00023950" "30" "14543" "0" "14543" "0" "c.*1631C>T" "r.(=)" "p.(=)" "" "" "0000293787" "00023950" "30" "14682" "0" "14715" "0" "c.*1770_*1803del" "r.(=)" "p.(=)" "" "" "0000296987" "00023950" "50" "14388" "0" "14388" "0" "c.*1476G>A" "r.(=)" "p.(=)" "" "" "0000296988" "00023950" "10" "1119" "0" "1119" "0" "c.1119=" "r.(=)" "p.(Leu373=)" "" "" "0000296989" "00023950" "10" "2216" "0" "2216" "0" "c.2216=" "r.(=)" "p.(Gln739=)" "" "" "0000298878" "00023950" "50" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "" "" "0000300795" "00023950" "10" "10225" "0" "10225" "0" "c.10225G>C" "r.(?)" "p.(Val3409Leu)" "" "" "0000300796" "00023950" "10" "11346" "0" "11346" "0" "c.11346C>T" "r.(?)" "p.(Asp3782=)" "" "" "0000300798" "00023950" "90" "11554" "0" "11554" "0" "c.11554del" "r.(?)" "p.(Leu3852TrpfsTer93)" "" "" "0000300799" "00023950" "10" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "" "" "0000300801" "00023950" "10" "11717" "0" "11717" "0" "c.11717G>T" "r.(?)" "p.(Cys3906Phe)" "" "" "0000300802" "00023950" "90" "12300" "0" "12300" "0" "c.12300del" "r.(?)" "p.(Leu4101TrpfsTer97)" "" "" "0000300803" "00023950" "30" "12409" "0" "12409" "0" "c.12409C>T" "r.(?)" "p.(Leu4137=)" "" "" "0000300804" "00023950" "10" "12436" "0" "12436" "0" "c.12436G>A" "r.(?)" "p.(Val4146Ile)" "" "" "0000300805" "00023950" "10" "2216" "0" "2216" "0" "c.2216=" "r.(=)" "p.(Gln739=)" "" "" "0000300806" "00023950" "10" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(Pro900=)" "" "" "0000300807" "00023950" "10" "2854" "-5" "2854" "-5" "c.2854-5C>T" "r.spl?" "p.?" "" "" "0000300808" "00023950" "10" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(Asn1034Ser)" "" "" "0000300809" "00023950" "10" "3296" "-15" "3296" "-15" "c.3296-15G>A" "r.(=)" "p.(=)" "" "" "0000300810" "00023950" "30" "4018" "0" "4018" "0" "c.4018C>T" "r.(?)" "p.(Arg1340Trp)" "" "" "0000300811" "00023950" "10" "4270" "0" "4270" "0" "c.4270A>G" "r.(?)" "p.(Thr1424Ala)" "" "" "0000300812" "00023950" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Gln143Ter)" "" "" "0000300813" "00023950" "10" "4495" "0" "4495" "0" "c.4495C>T" "r.(?)" "p.(Leu1499=)" "" "" "0000300814" "00023950" "10" "4546" "0" "4546" "0" "c.4546G>A" "r.(?)" "p.(Ala1516Thr)" "" "" "0000300815" "00023950" "10" "4845" "0" "4845" "0" "c.4845C>T" "r.(?)" "p.(Asn1615=)" "" "" "0000300816" "00023950" "10" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Thr1773Ile)" "" "" "0000300817" "00023950" "10" "5611" "0" "5611" "0" "c.5611G>A" "r.(?)" "p.(Ala1871Thr)" "" "" "0000300818" "00023950" "30" "5783" "0" "5783" "0" "c.5783C>G" "r.(?)" "p.(Pro1928Arg)" "" "" "0000300819" "00023950" "30" "6488" "0" "6488" "0" "c.6488G>A" "r.(?)" "p.(Arg2163Gln)" "" "" "0000300820" "00023950" "10" "6665" "0" "6665" "0" "c.6665C>T" "r.(?)" "p.(Ala2222Val)" "" "" "0000300821" "00023950" "30" "6882" "0" "6882" "0" "c.6882C>T" "r.(?)" "p.(Leu2294=)" "" "" "0000300822" "00023950" "90" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "" "" "0000300823" "00023950" "10" "8020" "0" "8020" "0" "c.8020C>T" "r.(?)" "p.(Pro2674Ser)" "" "" "0000300824" "00023950" "10" "8123" "0" "8123" "0" "c.8123C>T" "r.(?)" "p.(Thr2708Met)" "" "" "0000300825" "00023950" "30" "8161" "5" "8161" "5" "c.8161+5C>T" "r.spl?" "p.?" "" "" "0000300826" "00023950" "10" "8200" "0" "8200" "0" "c.8200C>A" "r.(?)" "p.(Pro2734Thr)" "" "" "0000300827" "00023950" "10" "8204" "0" "8204" "0" "c.8204A>T" "r.(?)" "p.(Gln2735Leu)" "" "" "0000300828" "00023950" "10" "8440" "0" "8440" "0" "c.8440G>A" "r.(?)" "p.(Gly2814Arg)" "" "" "0000304654" "00023950" "50" "56431" "0" "56431" "0" "c.*43519C>T" "r.(=)" "p.(=)" "" "" "0000305703" "00023950" "30" "10400" "0" "10400" "0" "c.10400C>T" "r.(?)" "p.(Ala3467Val)" "" "" "0000305704" "00023950" "50" "10750" "0" "10750" "0" "c.10750G>A" "r.(?)" "p.(Val3584Met)" "" "" "0000305705" "00023950" "30" "11870" "0" "11870" "0" "c.11870G>A" "r.(?)" "p.(Gly3957Asp)" "" "" "0000305706" "00023950" "30" "11976" "0" "11976" "0" "c.11976C>G" "r.(?)" "p.(Ala3992=)" "" "" "0000305707" "00023950" "30" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "" "0000305708" "00023950" "10" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "" "" "0000305709" "00023950" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "" "" "0000305710" "00023950" "30" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Ala666Thr)" "" "" "0000305711" "00023950" "30" "3480" "0" "3480" "0" "c.3480G>T" "r.(?)" "p.(Thr1160=)" "" "" "0000305712" "00023950" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Asp1165=)" "" "" "0000305713" "00023950" "30" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Arg1190His)" "" "" "0000305714" "00023950" "30" "3797" "0" "3797" "0" "c.3797G>A" "r.(?)" "p.(Arg1266Gln)" "" "" "0000305715" "00023950" "30" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Ala1422Thr)" "" "" "0000305716" "00023950" "30" "4546" "0" "4546" "0" "c.4546G>A" "r.(?)" "p.(Ala1516Thr)" "" "" "0000305717" "00023950" "50" "4657" "0" "4659" "0" "c.4657_4659del" "r.(?)" "p.(Val1553del)" "" "" "0000305718" "00023950" "50" "4759" "0" "4759" "0" "c.4759C>T" "r.(?)" "p.(Arg1587Cys)" "" "" "0000305719" "00023950" "10" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Thr1773Ile)" "" "" "0000305720" "00023950" "50" "5430" "0" "5430" "0" "c.5430C>T" "r.(?)" "p.(Ser1810=)" "" "" "0000305721" "00023950" "30" "5436" "0" "5436" "0" "c.5436C>G" "r.(?)" "p.(Pro1812=)" "" "" "0000305722" "00023950" "10" "5682" "0" "5682" "0" "c.5682C>T" "r.(?)" "p.(Ala1894=)" "" "" "0000305723" "00023950" "50" "5882" "0" "5882" "0" "c.5882C>T" "r.(?)" "p.(Ala1961Val)" "" "" "0000305724" "00023950" "30" "5896" "0" "5896" "0" "c.5896G>A" "r.(?)" "p.(Val1966Met)" "" "" "0000305725" "00023950" "10" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(His201=)" "" "" "0000305726" "00023950" "10" "6078" "0" "6078" "0" "c.6078C>T" "r.(?)" "p.(Val2026=)" "" "" "0000305727" "00023950" "10" "6331" "0" "6331" "0" "c.6331G>A" "r.(?)" "p.(Glu2111Lys)" "" "" "0000305728" "00023950" "10" "6545" "0" "6545" "0" "c.6545A>G" "r.(?)" "p.(Gln2182Arg)" "" "" "0000305729" "00023950" "30" "6882" "0" "6882" "0" "c.6882C>T" "r.(?)" "p.(Leu2294=)" "" "" "0000305730" "00023950" "50" "7406" "0" "7406" "0" "c.7406G>A" "r.(?)" "p.(Arg2469His)" "" "" "0000305731" "00023950" "30" "7683" "0" "7683" "0" "c.7683C>T" "r.(?)" "p.(Ala2561=)" "" "" "0000305732" "00023950" "50" "7907" "0" "7907" "0" "c.7907G>A" "r.(?)" "p.(Arg2636Gln)" "" "" "0000305733" "00023950" "30" "8100" "0" "8100" "0" "c.8100A>G" "r.(?)" "p.(Ala2700=)" "" "" "0000305734" "00023950" "30" "8212" "0" "8212" "0" "c.8212G>C" "r.(?)" "p.(Glu2738Gln)" "" "" "0000305735" "00023950" "30" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Ala2891Thr)" "" "" "0000305736" "00023950" "30" "8689" "0" "8689" "0" "c.8689G>A" "r.(?)" "p.(Val2897Ile)" "" "" "0000305737" "00023950" "50" "9187" "0" "9187" "0" "c.9187C>T" "r.(?)" "p.(Arg3063Cys)" "" "" "0000305738" "00023950" "30" "9957" "0" "9957" "0" "c.9957C>T" "r.(?)" "p.(Ser3319=)" "" "" "0000305739" "00023950" "30" "9999" "0" "9999" "0" "c.9999C>T" "r.(?)" 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"p.(=)" "" "" "0000317881" "00023950" "90" "14324" "0" "14324" "0" "c.*1412A>G" "r.(=)" "p.(=)" "" "" "0000317882" "00023950" "90" "14301" "0" "14327" "0" "c.*1389_*1415del" "r.(=)" "p.(=)" "" "" "0000317883" "00023950" "10" "14218" "0" "14218" "0" "c.*1306G>C" "r.(=)" "p.(=)" "" "" "0000317884" "00023950" "10" "14242" "0" "14242" "0" "c.*1330G>A" "r.(=)" "p.(=)" "" "" "0000317885" "00023950" "10" "14191" "0" "14191" "0" "c.*1279G>A" "r.(=)" "p.(=)" "" "" "0000317887" "00023950" "10" "14132" "0" "14132" "0" "c.*1220C>G" "r.(=)" "p.(=)" "" "" "0000317888" "00023950" "30" "14122" "0" "14122" "0" "c.*1210A>G" "r.(=)" "p.(=)" "" "" "0000317889" "00023950" "30" "14094" "0" "14094" "0" "c.*1182C>T" "r.(=)" "p.(=)" "" "" "0000317890" "00023950" "30" "14086" "0" "14086" "0" "c.*1174C>G" "r.(=)" "p.(=)" "" "" "0000317891" "00023950" "10" "14070" "0" "14070" "0" "c.*1158G>A" "r.(=)" "p.(=)" "" "" "0000317892" "00023950" "10" "14056" "0" "14056" "0" "c.*1144C>G" "r.(=)" "p.(=)" "" "" "0000317893" "00023950" "90" "47180" "0" "47180" "0" "c.*34268A>G" "r.(=)" "p.(=)" "" "" "0000317895" "00023950" "10" "14032" "0" "14035" "0" "c.*1120_*1123del" "r.(=)" "p.(=)" "" "" "0000317896" "00023950" "90" "14034" "0" "14035" "0" "c.*1122_*1123del" "r.(=)" "p.(=)" "" "" "0000317897" "00023950" "90" "47144" "0" "47154" "0" "c.*34232_*34242del" "r.(=)" "p.(=)" "" "" "0000317899" "00023950" "90" "47149" "0" "47149" "0" "c.*34237G>T" "r.(=)" "p.(=)" "" "" "0000317900" "00023950" "50" "47133" "0" "47133" "0" "c.*34221C>T" "r.(=)" "p.(=)" "" "" "0000317902" "00023950" "90" "47121" "0" "47121" "0" "c.*34209G>A" "r.(=)" "p.(=)" "" "" "0000317903" "00023950" "90" "47118" "0" "47118" "0" "c.*34206A>C" "r.(=)" "p.(=)" "" "" "0000317904" "00023950" "90" "47115" "0" "47115" "0" "c.*34203C>T" "r.(=)" "p.(=)" "" "" "0000317905" "00023950" "90" "46446" "0" "46446" "0" "c.*33534G>T" "r.(=)" "p.(=)" "" "" "0000317906" "00023950" "50" "46421" "0" "46421" "0" "c.*33509G>A" "r.(=)" "p.(=)" "" "" "0000317907" "00023950" "30" "46413" "0" "46413" "0" "c.*33501C>T" "r.(=)" "p.(=)" "" "" "0000317908" "00023950" "10" "46278" "0" "46278" "0" "c.*33366G>C" "r.(=)" "p.(=)" "" "" "0000317909" "00023950" "90" "46394" "0" "46394" "0" "c.*33482C>T" "r.(=)" "p.(=)" "" "" "0000317910" "00023950" "10" "46021" "0" "46021" "0" "c.*33109C>A" "r.(=)" "p.(=)" "" "" "0000317911" "00023950" "90" "45988" "0" "45988" "0" "c.*33076A>G" "r.(=)" "p.(=)" "" "" "0000317912" "00023950" "90" "45987" "0" "45987" "0" "c.*33075del" "r.(?)" "p.(=)" "" "" "0000317913" "00023950" "90" "45986" "0" "45986" "0" "c.*33074G>A" "r.(=)" "p.(=)" "" "" "0000317914" "00023950" "90" "45975" "0" "45981" "0" "c.*33063_*33069del" "r.(=)" "p.(=)" "" "" "0000317915" "00023950" "90" "45960" "0" "45960" "0" "c.*33048del" "r.(?)" "p.(=)" "" "" "0000317916" "00023950" "50" "45944" "0" "45944" "0" "c.*33032C>G" "r.(=)" "p.(=)" "" "" "0000317917" "00023950" "90" "45944" "0" "45944" "0" "c.*33032C>A" "r.(=)" "p.(=)" "" "" "0000317918" "00023950" "90" "45935" "0" "45936" "0" "c.*33023_*33024dup" "r.(=)" "p.(=)" "" "" "0000317920" "00023950" "90" "45919" "0" "45919" "0" "c.*33007del" "r.(?)" "p.(=)" "" "" "0000317921" "00023950" "90" "45916" "0" "45917" "0" "c.*33004_*33005del" "r.(=)" "p.(=)" "" "" "0000317922" "00023950" "10" "45915" "0" "45915" "0" "c.*33003G>C" "r.(=)" "p.(=)" "" "" "0000317923" "00023950" "90" "45914" "0" "45914" "0" "c.*33002A>G" "r.(=)" "p.(=)" "" "" "0000317924" "00023950" "10" "45884" "0" "45884" "0" "c.*32972C>T" "r.(=)" "p.(=)" "" "" "0000317925" "00023950" "90" "45869" "0" "45869" "0" "c.*32957C>T" "r.(=)" "p.(=)" "" "" "0000317926" "00023950" "90" "45869" "0" "45869" "0" "c.*32957C>A" "r.(=)" "p.(=)" "" "" "0000317927" "00023950" "10" "45846" "0" "45846" "0" "c.*32934C>A" "r.(=)" "p.(=)" "" "" "0000317928" "00023950" "90" "45537" "0" "45537" "0" "c.*32625G>C" "r.(=)" "p.(=)" "" "" "0000317929" "00023950" "90" "45486" "0" "45488" "0" "c.*32574_*32576del" "r.(=)" "p.(=)" "" "" "0000317930" "00023950" "90" "45482" "0" "45483" "0" "c.*32570_*32571del" "r.(=)" "p.(=)" "" "" "0000317931" "00023950" "90" "45482" "0" "45482" "0" "c.*32570del" "r.(?)" "p.(=)" "" "" "0000317932" "00023950" "30" "45441" "0" "45441" "0" "c.*32529G>A" "r.(=)" "p.(=)" "" "" "0000317933" "00023950" "10" "43916" "0" "43916" "0" "c.*31004G>A" "r.(=)" "p.(=)" "" "" "0000317934" "00023950" "90" "43882" "0" "43882" "0" "c.*30970C>A" "r.(=)" "p.(=)" "" "" "0000317935" "00023950" "30" "43856" "0" "43856" "0" "c.*30944G>A" "r.(=)" "p.(=)" "" "" "0000317936" "00023950" "30" "43853" "0" "43853" "0" "c.*30941C>T" "r.(=)" "p.(=)" "" "" "0000317937" "00023950" "90" "43815" "0" "43815" "0" "c.*30903del" "r.(?)" "p.(=)" "" "" "0000317939" "00023950" "30" "43793" "0" "43793" "0" "c.*30881C>G" "r.(=)" "p.(=)" "" "" "0000317941" "00023950" "90" "43786" "0" "43787" "0" "c.*30874_*30875del" "r.(=)" "p.(=)" "" "" "0000317942" "00023950" "90" "43768" "0" "43768" "0" "c.*30856G>A" "r.(=)" "p.(=)" "" "" "0000317943" "00023950" "10" "43753" "0" "43753" "0" "c.*30841G>A" "r.(=)" "p.(=)" "" "" "0000317944" "00023950" "10" "43761" "0" "43761" "0" "c.*30849C>G" "r.(=)" "p.(=)" "" "" "0000317945" "00023950" "90" "41983" "0" "41983" "0" "c.*29071C>T" "r.(=)" "p.(=)" "" "" "0000317946" "00023950" "90" "41970" "0" "41970" "0" "c.*29058C>T" "r.(=)" "p.(=)" "" "" "0000324458" "00023950" "50" "57960" "0" "57960" "0" "c.*45048C>T" "r.(=)" "p.(=)" "" "" "0000324459" "00023950" "30" "56309" "0" "56309" "0" "c.*43397G>A" "r.(=)" "p.(=)" "" "" "0000324461" "00023950" "50" "54551" "0" "54571" "0" "c.*41639_*41659del" "r.(=)" "p.(=)" "" "" "0000324462" "00023950" "50" "45461" "0" "45461" "0" "c.*32549C>T" "r.(=)" "p.(=)" "" "" "0000324463" "00023950" "50" "31024" "0" "31024" "0" "c.*18112T>A" "r.(=)" "p.(=)" "" "" "0000324466" "00023950" "50" "30396" "0" "30396" "0" "c.*17484C>G" "r.(=)" "p.(=)" "" "" "0000324467" "00023950" "50" "24952" "0" "24952" "0" "c.*12040C>T" "r.(=)" "p.(=)" "" "" "0000324468" "00023950" "50" "23350" "0" "23350" "0" "c.*10438C>T" "r.(=)" "p.(=)" "" "" "0000324470" "00023950" "50" "18863" "0" "18863" "0" "c.*5951G>A" "r.(=)" "p.(=)" "" "" "0000324473" "00023950" "50" "18008" "0" "18008" "0" "c.*5096C>T" "r.(=)" "p.(=)" "" "" "0000324474" "00023950" "50" "16315" "0" "16315" "0" "c.*3403G>C" "r.(=)" "p.(=)" "" "" "0000324475" "00023950" "30" "14682" "0" "14715" "0" "c.*1770_*1803del" "r.(=)" "p.(=)" "" "" "0000324476" "00023950" "50" "14409" "0" "14409" "0" "c.*1497C>T" "r.(=)" "p.(=)" "" "" "0000324478" "00023950" "50" "12509" "0" "12509" "0" "c.12509A>G" "r.(?)" "p.(Lys4170Arg)" "" "" "0000324479" "00023950" "50" "11914" "0" "11914" "0" "c.11914C>T" "r.(?)" "p.(Arg3972Cys)" "" "" "0000324480" "00023950" "30" "11870" "0" "11870" "0" "c.11870G>A" "r.(?)" "p.(Gly3957Asp)" "" "" "0000324481" "00023950" "30" "11717" "0" "11717" "0" "c.11717G>T" "r.(?)" "p.(Cys3906Phe)" "" "" "0000324482" "00023950" "30" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "" "" "0000336823" "00023950" "90" "5425" "0" "5425" "0" "c.5425del" "r.(?)" "p.(Ala1809Profs*27)" "15" "MutationTaster: disease causing" "0000336824" "00023950" "50" "2059" "0" "2064" "0" "c.2059_2064del" "r.(?)" "p.(Leu687_Phe688del)" "10" "" "0000336825" "00023950" "90" "3236" "0" "3236" "0" "c.3236del" "r.(?)" "p.(Asp1079Alafs*25)" "14" "MutationTaster: disease causing" "0000337824" "00023950" "30" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "15" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000339074" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000339133" "00023950" "50" "31024" "0" "31024" "0" "c.*18112T>A" "r.(=)" "p.(=)" "" "" "0000341923" "00023950" "90" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Ter)" "" "" "0000343537" "00023950" "50" "49231" "0" "49231" "0" "c.*36319G>A" "r.(=)" "p.(=)" "" "" "0000343906" "00023950" "30" "18873" "0" "18873" "0" "c.*5961C>T" "r.(=)" "p.(=)" "" "" "0000346059" "00023950" "50" "12095" "0" "12095" "0" "c.12095G>A" "r.(?)" "p.(Gly4032Asp)" "" "" "0000348198" "00023950" "50" "18069" "0" "18069" "0" "c.*5157G>C" "r.(=)" "p.(=)" "" "" "0000348211" "00023950" "30" "17621" "0" "17621" "0" "c.*4709G>A" "r.(=)" "p.(=)" "" "" "0000348952" "00023950" "30" "41923" "0" "41923" "0" "c.*29011G>C" "r.(=)" "p.(=)" "" "" "0000349269" "00023950" "50" "3818" "0" "3818" "0" "c.3818C>T" "r.(?)" "p.(Thr1273Ile)" "" "" "0000349668" "00023950" "30" "23596" "0" "23596" "0" "c.*10684G>A" "r.(=)" "p.(=)" "" "" "0000351017" "00023950" "90" "14497" "0" "14497" "0" "c.*1585C>G" "r.(=)" "p.(=)" "" "" "0000351018" "00023950" "70" "12721" "0" "12721" "0" "c.12721C>T" "r.(?)" "p.(Gln4241Ter)" "" "" "0000351476" "00023950" "90" "6016" "0" "6016" "0" "c.6016del" "r.(?)" "p.(Trp2006Glyfs*110)" "15" "MutationTaster: disease causing" "0000351477" "00023950" "90" "4797" "0" "4797" "0" "c.4797C>A" "r.(?)" "p.(Tyr1599*)" "15" "MutationTaster: disease causing" "0000351478" "00023950" "90" "9553" "0" "9554" "0" "c.9553_9554del" "r.(?)" "p.(Trp3185Alafs*32)" "27" "MutationTaster: disease causing" "0000351479" "00023950" "90" "4232" "0" "4239" "0" "c.4232_4239del" "r.(?)" "p.(Arg1411Leufs*17)" "15" "MutationTaster: disease causing" "0000351480" "00023950" "90" "7301" "0" "7312" "0" "c.7301_7312dup" "r.(?)" "p.(Arg2434_Val2437dup)" "18" "MutationTaster: disease causing" "0000351481" "00023950" "90" "11819" "0" "11819" "0" "c.11819dup" "r.(?)" "p.(Leu3941Alafs*20)" "43" "MutationTaster: disease causing" "0000351482" "00023950" "50" "8270" "0" "8270" "0" "c.8270C>G" "r.(?)" "p.(Ser2757Cys)" "23" "" "0000351483" "00023950" "50" "7166" "0" "7166" "0" "c.7166T>C" "r.(?)" "p.(Leu2389Ser)" "17" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351484" "00023950" "50" "2438" "0" "2438" "0" "c.2438G>A" "r.(?)" "p.(Cys813Tyr)" "11" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351485" "00023950" "50" "11440" "0" "11440" "0" "c.11440T>C" "r.(?)" "p.(Tyr3814His)" "41" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351486" "00023950" "50" "5102" "0" "5102" "0" "c.5102A>T" "r.(?)" "p.(Asn1701Ile)" "15" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351487" "00023950" "50" "8696" "0" "8696" "0" "c.8696T>C" "r.(?)" "p.(Val2899Ala)" "23" "PolyPhen: possibly damaging; SIFT: deleterious; MutationTaster: polymorphism" "0000351489" "00023950" "50" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Glu593Lys)" "9" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351490" "00023950" "50" "7535" "0" "7535" "0" "c.7535T>C" "r.(?)" "p.(Leu2512Pro)" "19" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351658" "00023950" "50" "5999" "0" "5999" "0" "c.5999C>G" "r.(?)" "p.(Ser2000Cys)" "15" "PolyPhen: probably damaging; MutationTaster: polymorphism" "0000351659" "00023950" "50" "7979" "0" "7979" "0" "c.7979A>G" "r.(?)" "p.(Asp2660Gly)" "21" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351660" "00023950" "50" "9583" "0" "9583" "0" "c.9583T>G" "r.(?)" "p.(Trp3195Gly)" "28" "PolyPhen: probably damaging; SIFT: deleterious; MutationTaster: disease causing" "0000351661" "00023950" "50" "8179" "0" "8179" "0" "c.8179G>C" "r.(?)" "p.(Ala2727Pro)" "23" "PolyPhen: benign; SIFT: deleterious; MutationTaster: polymorphism" "0000351681" "00023950" "50" "11450" "0" "11450" "0" "c.11450G>A" "r.(?)" "p.(Gly3817Glu)" "41" "PolyPhen: probably damaging; MutationTaster: polymorphism" "0000351722" "00023950" "70" "7427" "0" "7427" "0" "c.7427G>C" "r.(?)" "p.(Cys2476Ser)" "" "" "0000368272" "00023950" "70" "1832" "0" "1832" "0" "c.1832G>C" "r.(?)" "p.(Arg611Pro)" "9" "PolyPhen: 0.99; SIFT: 0" "0000368273" "00023950" "70" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Gln1630*)" "15" "" "0000368275" "00023950" "70" "6164" "0" "6164" "0" "c.6164T>C" "r.(?)" "p.(Leu2055Pro)" "15" "PolyPhen: 835; SIFT: 0" "0000368383" "00023950" "50" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Ala561Val)" "8" "PolyPhen: 7; SIFT: 0.11" "0000368392" "00023950" "70" "7065" "5" "7065" "5" "c.7065+5G>T" "r.spl?" "p.?" "_16" "" "0000368393" "00023950" "70" "7663" "0" "7663" "0" "c.7663G>A" "r.(?)" "p.(Val2555Met)" "19" "PolyPhen: 0.99; SIFT: 0.0" "0000368514" "00023950" "70" "9003" "0" "9003" "0" "c.9003G>A" "r.(?)" "p.(Trp3001*)" "" "" "0000368515" "00023950" "70" "9857" "0" "9857" "0" "c.9857T>C" "r.(?)" "p.(Leu3286Pro)" "29" "PolyPhen: 1.00; SIFT: 0.00" "0000368517" "00023950" "70" "11872" "0" "11872" "0" "c.11872G>C" "r.(?)" "p.(Ala3958Pro)" "43" "PolyPhen: 0.97" "0000368993" "00023950" "70" "9713" "-2" "9713" "-2" "c.9713-2A>G" "r.spl" "p.?" "" "" "0000368994" "00023950" "30" "8860" "0" "8860" "0" "c.8860G>T" "r.(?)" "p.(Glu2954*)" "24" "" "0000369002" "00023950" "70" "803" "0" "803" "0" "c.803dup" "r.(?)" "p.(Phe269Leufs*102)" "5" "" "0000369003" "00023950" "70" "2098" "-2" "2109" "0" "c.2098-2_2109del" "r.spl" "p.?" "10i_11" "" "0000369004" "00023950" "70" "2986" "-2" "2987" "0" "c.2986-2_2987del" "r.spl" "p.?" "12i_13" "" "0000369005" "00023950" "70" "4429" "0" "4429" "0" "c.4429del" "r.(?)" "p.(Leu1479Trpfs*55)" "15" "" "0000369008" "00023950" "70" "3161" "1" "3161" "1" "c.3161+1G>A" "r.spl" "p.?" "13i" "" "0000369043" "00023950" "70" "4494" "0" "4494" "0" "c.4494C>G" "r.(?)" "p.(Tyr1498*)" "15" "" "0000369044" "00023950" "70" "8000" "0" "8000" "0" "c.8000C>A" "r.(?)" "p.(Ala2667Glu)" "21" "PolyPhen: probably damaging; SIFT: deleterious" "0000369046" "00023950" "70" "11257" "0" "11269" "3" "c.11257_11269+3del" "r.spl" "p.(Arg3753fs)" "39_39i" "" "0000369047" "00023950" "70" "1529" "0" "1529" "0" "c.1529G>C" "r.(?)" "p.(Arg510Pro)" "7" "" "0000369048" "00023950" "70" "3829" "0" "3829" "0" "c.3829G>C" "r.(?)" "p.(Ala1277Pro)" "15" "" "0000405974" "00023950" "50" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "" "" "0000454006" "00023950" "70" "9965" "0" "9966" "0" "c.9965_9966del" "r.(?)" "p.(Thr3322Serfs*67)" "30" "" "0000454324" "00023950" "70" "4168" "0" "4168" "0" "c.4168C>T" "r.(?)" "p.(Gln1390*)" "15" "" "0000454329" "00023950" "70" "9622" "0" "9622" "0" "c.9622del" "r.(?)" "p.(Ala3208Hisfs*108)" "28" "" "0000454333" "00023950" "70" "6764" "0" "6764" "0" "c.6764G>C" "r.(?)" "p.(Arg2255Pro)" "15" "" "0000454334" "00023950" "70" "4573" "0" "4573" "0" "c.4573G>T" "r.(?)" "p.(Val1525Phe)" "15" "" "0000454336" "00023950" "70" "10219" "0" "10219" "0" "c.10219A>G" "r.(?)" "p.(Ser3407Gly)" "32" "" "0000454341" "00023950" "70" "1376" "0" "1376" "0" "c.1376G>C" "r.(?)" "p.(Arg459Pro)" "6" "" "0000454342" "00023950" "50" "3554" "0" "3554" "0" "c.3554G>A" "r.(?)" "p.(Gly1185Asp)" "15" "" "0000454343" "00023950" "70" "1569" "0" "1570" "0" "c.1569_1570del" "r.(?)" "p.(Pro525Alafs*61)" "7" "" "0000454344" "00023950" "70" "7489" "1" "7489" "1" "c.7489+1G>A" "r.spl" "p.?" "18i" "" "0000557081" "00023950" "30" "58991" "0" "58991" "0" "c.*46079G>C" "r.(=)" "p.(=)" "" "" "0000557085" "00023950" "30" "57987" "0" "57987" "0" "c.*45075T>C" "r.(=)" "p.(=)" "" "" "0000557086" "00023950" "50" "57987" "0" "57987" "0" "c.*45075T>C" "r.(=)" "p.(=)" "" "" "0000557087" "00023950" "50" "57987" "0" "57987" "0" "c.*45075T>C" "r.(=)" "p.(=)" "" "" "0000557088" "00023950" "50" "57987" "0" "57987" "0" "c.*45075T>C" "r.(=)" "p.(=)" "" "" "0000557091" "00023950" "50" "56438" "0" "56438" "0" "c.*43526T>C" "r.(=)" "p.(=)" "" "" "0000557092" "00023950" "50" "56431" "0" "56431" "0" "c.*43519C>T" "r.(=)" "p.(=)" "" "" "0000557093" "00023950" "30" "56431" "0" "56431" "0" "c.*43519C>T" "r.(=)" "p.(=)" "" "" "0000557094" "00023950" "30" "56298" "0" "56298" "0" "c.*43386G>A" "r.(=)" "p.(=)" "" "" "0000557095" "00023950" "30" "56295" "0" "56295" "0" "c.*43383C>T" "r.(=)" "p.(=)" "" "" "0000557097" "00023950" "30" "54844" "0" "54844" "0" "c.*41932C>G" "r.(=)" "p.(=)" "" "" "0000557101" "00023950" "50" "52226" "0" "52226" "0" "c.*39314T>G" "r.(=)" "p.(=)" "" "" "0000557102" "00023950" "30" "52226" "0" "52226" "0" "c.*39314T>G" "r.(=)" "p.(=)" "" "" "0000557104" "00023950" "30" "49295" "0" "49295" "0" "c.*36383G>A" "r.(=)" "p.(=)" "" "" "0000557105" "00023950" "90" "49280" "0" "49290" "0" "c.*36368_*36378dup" "r.(=)" "p.(=)" "" "" "0000557106" "00023950" "90" "49255" "0" "49255" "0" "c.*36343G>A" "r.(=)" "p.(=)" "" "" "0000557107" "00023950" "30" "49226" "0" "49226" "0" "c.*36314G>A" "r.(=)" "p.(=)" "" "" "0000557108" "00023950" "90" "49185" "0" "49186" "0" "c.*36273_*36274dup" "r.(=)" "p.(=)" "" "" "0000557109" "00023950" "90" "48332" "0" "48332" "0" "c.*35420dup" "r.(?)" "p.(=)" "" "" "0000557110" "00023950" "30" "48306" "0" "48306" "0" "c.*35394T>C" "r.(=)" "p.(=)" "" "" "0000557111" "00023950" "30" "48224" "0" "48224" "0" "c.*35312G>A" "r.(=)" "p.(=)" "" "" "0000557113" "00023950" "90" "47210" "0" "47211" "0" "c.*34298_*34299insTA" "r.(=)" "p.(=)" "" "" "0000557114" "00023950" "90" "47150" "0" "47150" "0" "c.*34238dup" "r.(?)" "p.(=)" "" "" "0000557116" "00023950" "30" "47134" "0" "47134" "0" "c.*34222G>A" "r.(=)" "p.(=)" "" "" "0000557117" "00023950" "90" "47121" "0" "47124" "0" "c.*34209_*34212dup" "r.(=)" "p.(=)" "" "" "0000557118" "00023950" "50" "47116" "0" "47116" "0" "c.*34204T>C" "r.(=)" "p.(=)" "" "" "0000557120" "00023950" "30" "45940" "0" "45940" "0" "c.*33028C>T" "r.(=)" "p.(=)" "" "" "0000557121" "00023950" "90" "45920" "0" "45920" "0" "c.*33008dup" "r.(?)" "p.(=)" "" "" "0000557122" "00023950" "90" "45460" "0" "45460" "0" "c.*32548C>T" "r.(=)" "p.(=)" "" "" "0000557123" "00023950" "10" "45454" "0" "45454" "0" "c.*32542C>T" "r.(=)" "p.(=)" "" "" "0000557125" "00023950" "90" "43895" "0" "43895" "0" "c.*30983A>C" "r.(=)" "p.(=)" "" "" "0000557126" "00023950" "90" "43893" "0" "43893" "0" "c.*30981C>G" "r.(=)" "p.(=)" "" "" "0000557127" "00023950" "10" "43885" "0" "43885" "0" "c.*30973T>C" "r.(=)" "p.(=)" "" "" "0000557128" "00023950" "90" "43813" "0" "43813" "0" "c.*30901dup" "r.(?)" "p.(=)" "" "" "0000557129" "00023950" "90" "43792" "0" "43793" "0" "c.*30880_*30881insAT" "r.(=)" "p.(=)" "" "" "0000557130" "00023950" "30" "43753" "0" "43753" "0" "c.*30841G>A" "r.(=)" "p.(=)" "" "" "0000557132" "00023950" "90" "41984" "0" "41984" "0" "c.*29072C>T" "r.(=)" "p.(=)" "" "" "0000557133" "00023950" "30" "41978" "0" "41978" "0" "c.*29066C>T" "r.(=)" "p.(=)" "" "" "0000557134" "00023950" "90" "41968" "0" "41968" "0" "c.*29056dup" "r.(?)" "p.(=)" "" "" "0000557135" "00023950" "10" "41905" "0" "41905" "0" "c.*28993T>C" "r.(=)" "p.(=)" "" "" "0000557136" "00023950" "30" "41875" "0" "41875" "0" "c.*28963G>A" "r.(=)" "p.(=)" "" "" "0000557137" "00023950" "30" "41845" "0" "41845" "0" "c.*28933C>T" "r.(=)" "p.(=)" "" "" "0000557143" "00023950" "10" "40526" "0" "40526" "0" "c.*27614dup" "r.(?)" "p.(=)" "" "" "0000557144" "00023950" "10" "40174" "0" "40174" "0" "c.*27262dup" "r.(?)" "p.(=)" "" "" "0000557145" "00023950" "10" "40023" "0" "40023" "0" "c.*27111A>C" "r.(=)" "p.(=)" "" "" "0000557146" "00023950" "30" "39664" "0" "39664" "0" "c.*26752G>A" "r.(=)" "p.(=)" "" "" "0000557147" "00023950" "50" "39663" "0" "39663" "0" "c.*26751C>T" "r.(=)" "p.(=)" "" "" "0000557148" "00023950" "30" "39652" "0" "39652" "0" "c.*26740G>A" "r.(=)" "p.(=)" "" "" "0000557149" "00023950" "10" "39651" "0" "39651" "0" "c.*26739C>T" "r.(=)" "p.(=)" "" "" "0000557150" "00023950" "50" "39644" "0" "39644" "0" "c.*26732C>A" "r.(=)" "p.(=)" "" "" "0000557151" "00023950" "90" "39645" "0" "39646" "0" "c.*26733_*26734dup" "r.(=)" "p.(=)" "" "" "0000557153" "00023950" "30" "38372" "0" "38372" "0" "c.*25460A>G" "r.(=)" "p.(=)" "" "" "0000557154" "00023950" "90" "38306" "0" "38306" "0" "c.*25394del" "r.(?)" "p.(=)" "" "" "0000557155" "00023950" "90" "38303" "0" "38303" "0" "c.*25391dup" "r.(?)" "p.(=)" "" "" "0000557156" "00023950" "90" "38247" "0" "38247" "0" "c.*25335dup" "r.(?)" "p.(=)" "" "" "0000557157" "00023950" "90" "38245" "0" "38246" "0" "c.*25333_*25334insGT" "r.(=)" "p.(=)" "" "" "0000557158" "00023950" "30" "38234" "0" "38234" "0" "c.*25322C>G" "r.(=)" "p.(=)" "" "" "0000557159" "00023950" "90" "38211" "0" "38211" "0" "c.*25299C>A" "r.(=)" "p.(=)" "" "" "0000557160" "00023950" "10" "37150" "0" "37150" "0" "c.*24238dup" "r.(?)" "p.(=)" "" "" "0000557161" "00023950" "90" "37122" "0" "37122" "0" "c.*24210T>G" "r.(=)" "p.(=)" "" "" "0000557162" "00023950" "90" "37101" "0" "37113" "0" "c.*24189_*24201del" "r.(=)" "p.(=)" "" "" "0000557163" "00023950" "90" "37005" "0" "37024" "0" "c.*24093_*24112del" "r.(=)" "p.(=)" "" "" "0000557164" "00023950" "90" "37008" "0" "37008" "0" "c.*24096A>G" "r.(=)" "p.(=)" "" "" "0000557166" "00023950" "10" "32153" "0" "32153" "0" "c.*19241C>T" "r.(=)" "p.(=)" "" "" "0000557167" "00023950" "10" "32153" "0" "32153" "0" "c.*19241C>T" "r.(=)" "p.(=)" "" "" "0000557168" "00023950" "30" "32153" "0" "32153" "0" "c.*19241C>T" "r.(=)" "p.(=)" "" "" "0000557169" "00023950" "90" "32145" "0" "32146" "0" "c.*19233_*19234dup" "r.(=)" "p.(=)" "" "" "0000557170" "00023950" "90" "32110" "0" "32112" "0" "c.*19198_*19200dup" "r.(=)" "p.(=)" "" "" "0000557171" "00023950" "90" "32096" "0" "32096" "0" "c.*19184dup" "r.(?)" "p.(=)" "" "" "0000557172" "00023950" "30" "32081" "0" "32081" "0" "c.*19169C>T" "r.(=)" "p.(=)" "" "" "0000557173" "00023950" "10" "32079" "0" "32079" "0" "c.*19167C>T" "r.(=)" "p.(=)" "" "" "0000557175" "00023950" "10" "32003" "0" "32003" "0" "c.*19091dup" "r.(?)" "p.(=)" "" "" "0000557177" "00023950" "50" "31086" "0" "31086" "0" "c.*18174C>T" "r.(=)" "p.(=)" "" "" "0000557178" "00023950" "90" "31035" "0" "31035" "0" "c.*18123dup" "r.(?)" "p.(=)" "" "" "0000557179" "00023950" "30" "31024" "0" "31024" "0" "c.*18112T>A" "r.(=)" "p.(=)" "" "" "0000557180" "00023950" "50" "31024" "0" "31024" "0" "c.*18112T>A" "r.(=)" "p.(=)" "" "" "0000557181" "00023950" "30" "31017" "0" "31017" "0" "c.*18105G>A" "r.(=)" "p.(=)" "" "" "0000557182" "00023950" "90" "30878" "0" "30878" "0" "c.*17966T>C" "r.(=)" "p.(=)" "" "" "0000557183" "00023950" "90" "30856" "0" "30856" "0" "c.*17944C>T" "r.(=)" "p.(=)" "" "" "0000557184" "00023950" "30" "30821" "0" "30821" "0" "c.*17909C>T" "r.(=)" "p.(=)" "" "" "0000557185" "00023950" "10" "30771" "0" "30771" "0" "c.*17859G>A" "r.(=)" "p.(=)" "" "" "0000557186" "00023950" "30" "30770" "0" "30770" "0" "c.*17858C>T" "r.(=)" "p.(=)" "" "" "0000557187" "00023950" "30" "30770" "0" "30770" "0" "c.*17858C>T" "r.(=)" "p.(=)" "" "" "0000557188" "00023950" "90" "30730" "0" "30731" "0" "c.*17818_*17819dup" "r.(=)" "p.(=)" "" "" "0000557189" "00023950" "30" "30662" "0" "30662" "0" "c.*17750T>C" "r.(=)" "p.(=)" "" "" "0000557191" "00023950" "90" "30389" "0" "30389" "0" "c.*17477dup" "r.(?)" "p.(=)" "" "" "0000557192" "00023950" "50" "30383" "0" "30383" "0" "c.*17471C>G" "r.(=)" "p.(=)" "" "" "0000557193" "00023950" "90" "30313" "0" "30313" "0" "c.*17401dup" "r.(?)" "p.(=)" "" "" "0000557194" "00023950" "30" "30271" "0" "30271" "0" "c.*17359G>C" "r.(=)" "p.(=)" "" "" "0000557195" "00023950" "10" "29816" "0" "29817" "0" "c.*16904_*16905dup" "r.(=)" "p.(=)" "" "" "0000557196" "00023950" "50" "29783" "0" "29783" "0" "c.*16871C>A" "r.(=)" "p.(=)" "" "" "0000557197" "00023950" "30" "28437" "0" "28437" "0" "c.*15525G>A" "r.(=)" "p.(=)" "" "" "0000557198" "00023950" "90" "28415" "0" "28415" "0" "c.*15503dup" "r.(?)" 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"p.(=)" "" "" "0000557257" "00023950" "30" "18124" "0" "18124" "0" "c.*5212C>T" "r.(=)" "p.(=)" "" "" "0000557258" "00023950" "90" "18065" "0" "18065" "0" "c.*5153dup" "r.(?)" "p.(=)" "" "" "0000557259" "00023950" "30" "18025" "0" "18025" "0" "c.*5113G>A" "r.(=)" "p.(=)" "" "" "0000557260" "00023950" "90" "18015" "0" "18016" "0" "c.*5103_*5104insA" "r.(=)" "p.(=)" "" "" "0000557261" "00023950" "90" "18008" "0" "18008" "0" "c.*5096dup" "r.(?)" "p.(=)" "" "" "0000557262" "00023950" "30" "17991" "0" "17991" "0" "c.*5079C>T" "r.(=)" "p.(=)" "" "" "0000557263" "00023950" "10" "17969" "0" "17969" "0" "c.*5057C>G" "r.(=)" "p.(=)" "" "" "0000557264" "00023950" "30" "17960" "0" "17960" "0" "c.*5048G>A" "r.(=)" "p.(=)" "" "" "0000557265" "00023950" "10" "17840" "0" "17840" "0" "c.*4928del" "r.(?)" "p.(=)" "" "" "0000557266" "00023950" "30" "17703" "0" "17703" "0" "c.*4791dup" "r.(?)" 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"p.(=)" "" "" "0000557291" "00023950" "30" "14544" "0" "14544" "0" "c.*1632G>A" "r.(=)" "p.(=)" "" "" "0000557292" "00023950" "50" "14544" "0" "14544" "0" "c.*1632G>A" "r.(=)" "p.(=)" "" "" "0000557293" "00023950" "30" "14529" "0" "14529" "0" "c.*1617C>T" "r.(=)" "p.(=)" "" "" "0000557294" "00023950" "30" "14518" "0" "14518" "0" "c.*1606C>T" "r.(=)" "p.(=)" "" "" "0000557295" "00023950" "90" "14506" "0" "14509" "0" "c.*1594_*1597dup" "r.(=)" "p.(=)" "" "" "0000557296" "00023950" "50" "14498" "0" "14498" "0" "c.*1586dup" "r.(?)" "p.(=)" "" "" "0000557297" "00023950" "10" "14439" "0" "14442" "0" "c.*1527_*1530del" "r.(=)" "p.(=)" "" "" "0000557298" "00023950" "10" "14421" "0" "14421" "0" "c.*1509G>A" "r.(=)" "p.(=)" "" "" "0000557300" "00023950" "50" "14373" "0" "14373" "0" "c.*1461C>A" "r.(=)" "p.(=)" "" "" "0000557301" "00023950" "90" "14373" "0" "14373" "0" "c.*1461dup" "r.(?)" "p.(=)" "" "" "0000557302" "00023950" "90" "14368" "0" "14371" "0" "c.*1456_*1459dup" "r.(=)" "p.(=)" "" "" "0000557303" "00023950" "90" "14332" "0" "14349" "0" "c.*1420_*1437del" "r.(=)" "p.(=)" "" "" "0000557304" "00023950" "90" "14345" "0" "14345" "0" "c.*1433C>T" "r.(=)" "p.(=)" "" "" "0000557305" "00023950" "90" "14345" "0" "14345" "0" "c.*1433C>G" "r.(=)" "p.(=)" "" "" "0000557306" "00023950" "30" "14316" "0" "14316" "0" "c.*1404G>T" "r.(=)" "p.(=)" "" "" "0000557307" "00023950" "10" "14208" "0" "14208" "0" "c.*1296G>A" "r.(=)" "p.(=)" "" "" "0000557308" "00023950" "30" "14208" "0" "14208" "0" "c.*1296G>A" "r.(=)" "p.(=)" "" "" "0000557309" "00023950" "30" "14192" "0" "14192" "0" "c.*1280A>C" "r.(=)" "p.(=)" "" "" "0000557310" "00023950" "90" "14183" "0" "14184" "0" "c.*1271_*1272dup" "r.(=)" "p.(=)" "" "" "0000557311" "00023950" "90" "14172" "0" "14173" "0" "c.*1260_*1261dup" "r.(=)" "p.(=)" "" "" "0000557312" "00023950" "30" "14094" "0" "14094" "0" "c.*1182C>T" "r.(=)" "p.(=)" "" "" "0000557313" "00023950" "30" "14070" "0" "14070" "0" "c.*1158G>A" "r.(=)" "p.(=)" "" "" "0000557314" "00023950" "50" "14070" "0" "14070" "0" "c.*1158G>A" "r.(=)" "p.(=)" "" "" "0000557315" "00023950" "90" "14042" "0" "14051" "0" "c.*1130_*1139dup" "r.(=)" "p.(=)" "" "" "0000557316" "00023950" "30" "12791" "0" "12791" "0" "c.12791C>T" "r.(?)" "p.(Pro4264Leu)" "" "" "0000557317" "00023950" "10" "12664" "0" "12664" "0" "c.12664C>T" "r.(?)" "p.(Leu4222=)" "" "" "0000557318" "00023950" "30" "12436" "0" "12436" "0" "c.12436G>A" "r.(?)" "p.(Val4146Ile)" "" "" "0000557320" "00023950" "30" "12139" "-5" "12139" "-5" "c.12139-5C>T" "r.spl?" "p.?" "" "" "0000557321" "00023950" "90" "12031" "0" "12031" "0" "c.12031C>T" "r.(?)" "p.(Gln4011Ter)" "" "" "0000557323" "00023950" "90" "11935" "0" "11935" "0" "c.11935C>T" "r.(?)" "p.(Gln3979Ter)" "" "" "0000557324" "00023950" "10" "11916" "0" "11916" "0" "c.11916C>T" "r.(?)" "p.(Arg3972=)" "" "" "0000557325" "00023950" "10" "11713" "-63" "11713" "-30" "c.11713-63_11713-30dup" "r.(=)" "p.(=)" "" "" "0000557327" "00023950" "30" "11675" "0" "11675" "0" "c.11675G>A" "r.(?)" "p.(Arg3892His)" "" "" "0000557328" "00023950" "50" "11675" "0" "11675" "0" "c.11675G>A" "r.(?)" "p.(Arg3892His)" "" "" "0000557330" "00023950" "10" "11537" "3" "11537" "5" "c.11537+3_11537+5dup" "r.spl?" "p.?" "" "" "0000557331" "00023950" "30" "11537" "3" "11537" "5" "c.11537+3_11537+5dup" "r.spl?" "p.?" "" "" "0000557332" "00023950" "30" "11412" "-6" "11412" "-6" "c.11412-6C>T" "r.(=)" "p.(=)" "" "" "0000557333" "00023950" "30" "11376" "0" "11376" "0" "c.11376G>C" "r.(?)" "p.(Ser3792=)" "" "" "0000557334" "00023950" "30" "11356" "0" "11356" "0" "c.11356G>C" "r.(?)" "p.(Glu3786Gln)" "" "" "0000557335" "00023950" "30" "11346" "0" "11346" "0" "c.11346C>T" "r.(?)" "p.(Asp3782=)" "" "" "0000557337" "00023950" "90" "11314" "0" "11314" "0" "c.11314del" "r.(?)" "p.(Ala3772ProfsTer54)" "" "" "0000557338" "00023950" "50" "11249" "0" "11249" "0" "c.11249G>A" "r.(?)" "p.(Arg3750Gln)" "" "" "0000557339" "00023950" "30" "11017" "-3" "11017" "-3" "c.11017-3C>T" "r.spl?" "p.?" "" "" "0000557340" "00023950" "50" "11014" "0" "11014" "0" "c.11014C>T" "r.(?)" "p.(Arg3672Trp)" "" "" "0000557341" "00023950" "10" "10768" "0" "10768" "0" "c.10768C>T" "r.(?)" "p.(Leu3590=)" "" "" "0000557342" "00023950" "10" "10768" "0" "10768" "0" "c.10768C>T" "r.(?)" "p.(Leu3590=)" "" "" "0000557343" "00023950" "50" "10619" "0" "10619" "0" "c.10619G>C" "r.(?)" "p.(Gly3540Ala)" "" "" "0000557344" "00023950" "30" "10531" "0" "10531" "0" "c.10531C>G" "r.(?)" "p.(Leu3511Val)" "" "" "0000557345" "00023950" "50" "10337" "0" "10337" "0" "c.10337del" "r.(?)" "p.(Leu3446ArgfsTer27)" "" "" "0000557346" "00023950" "30" "10335" "0" "10335" "0" "c.10335G>C" "r.(?)" "p.(Gly3445=)" "" "" "0000557347" "00023950" "50" "10320" "0" "10330" "0" "c.10320_10330del" "r.(?)" "p.(Gln3441TrpfsTer26)" "" "" "0000557348" "00023950" "30" "10304" "0" "10304" "0" "c.10304G>A" "r.(?)" "p.(Arg3435Gln)" "" "" "0000557349" "00023950" "30" "10234" "0" "10234" "0" "c.10234C>T" "r.(?)" "p.(Pro3412Ser)" "" "" "0000557350" "00023950" "30" "10225" "0" "10225" "0" "c.10225G>C" "r.(?)" "p.(Val3409Leu)" "" "" "0000557351" "00023950" "30" "10168" "-8" "10168" "-8" "c.10168-8C>T" "r.(=)" "p.(=)" "" "" "0000557352" "00023950" "30" "10080" "0" "10080" "0" "c.10080C>T" "r.(?)" "p.(Ala3360=)" "" "" "0000557354" "00023950" "50" "9889" "0" "9889" "0" "c.9889G>A" "r.(?)" "p.(Val3297Met)" "" "" "0000557355" "00023950" "30" "9852" "0" "9852" "0" "c.9852C>T" "r.(?)" "p.(Cys3284=)" "" "" "0000557356" "00023950" "70" "9849" "0" "9849" "0" "c.9849C>G" "r.(?)" "p.(Cys3283Trp)" "" "" "0000557357" "00023950" "50" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "" "" "0000557358" "00023950" "70" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "" "" "0000557359" "00023950" "90" "9569" "-1" "9569" "-1" "c.9569-1G>C" "r.spl?" "p.?" "" "" "0000557361" "00023950" "50" "9388" "0" "9388" "0" "c.9388C>T" "r.(?)" "p.(Arg3130Trp)" "" "" "0000557362" "00023950" "30" "9350" "0" "9350" "0" "c.9350G>A" "r.(?)" "p.(Arg3117His)" "" "" "0000557363" "00023950" "30" "9187" "0" "9187" "0" "c.9187C>T" "r.(?)" "p.(Arg3063Cys)" "" "" "0000557364" "00023950" "50" "9076" "0" "9076" "0" "c.9076C>G" "r.(?)" "p.(Arg3026Gly)" "" "" "0000557366" "00023950" "30" "8964" "0" "8964" "0" "c.8964G>A" "r.(?)" "p.(Ala2988=)" "" "" "0000557367" "00023950" "10" "8898" "0" "8898" "0" "c.8898G>C" "r.(?)" "p.(Glu2966Asp)" "" "" "0000557368" "00023950" "50" "8723" "0" "8723" "0" "c.8723T>A" "r.(?)" "p.(Val2908Glu)" "" "" "0000557369" "00023950" "10" "8440" "0" "8440" "0" "c.8440G>A" "r.(?)" "p.(Gly2814Arg)" "" "" "0000557370" "00023950" "70" "8443" "0" "8443" "0" "c.8443dup" "r.(?)" "p.(Ala2815GlyfsTer7)" "" "" "0000557371" "00023950" "10" "8364" "0" "8364" "0" "c.8364G>A" "r.(?)" "p.(Ser2788=)" "" "" "0000557372" "00023950" "30" "8344" "0" "8344" "0" "c.8344G>A" "r.(?)" "p.(Val2782Met)" "" "" "0000557373" "00023950" "30" "8294" "0" "8294" "0" "c.8294G>A" "r.(?)" "p.(Arg2765His)" "" "" "0000557374" "00023950" "30" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "" "" "0000557375" "00023950" "50" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "" "" "0000557376" "00023950" "10" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "" "" "0000557379" "00023950" "10" "8161" "8" "8161" "8" "c.8161+8G>A" "r.(=)" "p.(=)" "" "" "0000557380" "00023950" "50" "8161" "4" "8161" "4" "c.8161+4C>T" "r.spl?" "p.?" "" "" "0000557381" "00023950" "30" "8123" "0" "8123" "0" "c.8123C>T" "r.(?)" "p.(Thr2708Met)" "" "" "0000557382" "00023950" "30" "8087" "0" "8087" "0" "c.8087T>G" "r.(?)" "p.(Leu2696Arg)" "" "" "0000557384" "00023950" "10" "7642" "0" "7642" "0" "c.7642G>C" "r.(?)" "p.(Glu2548Gln)" "" "" "0000557385" "00023950" "30" "7636" "0" "7636" "0" "c.7636C>T" "r.(?)" "p.(His2546Tyr)" "" "" "0000557386" "00023950" "30" "7636" "0" "7636" "0" "c.7636C>T" "r.(?)" "p.(His2546Tyr)" "" "" "0000557387" "00023950" "50" "7622" "0" "7622" "0" "c.7622C>T" "r.(?)" "p.(Pro2541Leu)" "" "" "0000557388" "00023950" "30" "7611" "0" "7611" "0" "c.7611C>T" "r.(?)" "p.(Ala2537=)" "" "" "0000557389" "00023950" "50" "7600" "0" "7600" "0" "c.7600A>G" "r.(?)" "p.(Ser2534Gly)" "" "" "0000557391" "00023950" "30" "7531" "0" "7531" "0" "c.7531G>A" "r.(?)" "p.(Ala2511Thr)" "" "" "0000557392" "00023950" "30" "7490" "-10" "7490" "-10" "c.7490-10C>T" "r.(=)" "p.(=)" "" "" "0000557393" "00023950" "50" "7486" "0" "7486" "0" "c.7486A>C" "r.(?)" "p.(Thr2496Pro)" "" "" "0000557394" "00023950" "30" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Cys)" "" "" "0000557396" "00023950" "50" "7210" "0" "7210" "0" "c.7210C>T" "r.(?)" "p.(Arg2404Trp)" "" "" "0000557397" "00023950" "30" "7209" "20" "7209" "20" "c.7209+20T>G" "r.(=)" "p.(=)" "" "" "0000557398" "00023950" "30" "6984" "0" "6984" "0" "c.6984G>A" "r.(?)" "p.(Glu2328=)" "" "" "0000557399" "00023950" "30" "6980" "0" "6980" "0" "c.6980G>A" "r.(?)" "p.(Arg2327Gln)" "" "" "0000557400" "00023950" "30" "6965" "0" "6965" "0" "c.6965C>T" "r.(?)" "p.(Thr2322Met)" "" "" "0000557402" "00023950" "30" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "" "" "0000557403" "00023950" "90" "6736" "0" "6736" "0" "c.6736C>T" "r.(?)" "p.(Gln2246Ter)" "" "" "0000557404" "00023950" "10" "6598" "0" "6598" "0" "c.6598C>T" "r.(?)" "p.(Arg2200Cys)" "" "" "0000557405" "00023950" "10" "6598" "0" "6598" "0" "c.6598C>T" "r.(?)" "p.(Arg2200Cys)" "" "" "0000557406" "00023950" "50" "6566" "0" "6566" "0" "c.6566T>C" "r.(?)" "p.(Val2189Ala)" "" "" "0000557407" "00023950" "10" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "" "" "0000557408" "00023950" "30" "6488" "0" "6488" "0" "c.6488G>A" "r.(?)" "p.(Arg2163Gln)" "" "" "0000557409" "00023950" "30" "6484" "0" "6484" "0" "c.6484C>T" "r.(?)" "p.(Arg2162Trp)" "" "" "0000557410" "00023950" "30" "6395" "0" "6395" "0" "c.6395T>G" "r.(?)" "p.(Phe2132Cys)" "" "" "0000557411" "00023950" "30" "6297" "0" "6297" "0" "c.6297G>T" "r.(?)" "p.(Gly2099=)" "" "" "0000557412" "00023950" "30" "6177" "0" "6177" "0" "c.6177C>T" "r.(?)" "p.(Asp2059=)" "" "" "0000557413" "00023950" "30" "6106" "0" "6106" "0" "c.6106T>C" "r.(?)" "p.(Leu2036=)" "" "" "0000557414" "00023950" "30" "6091" "0" "6091" "0" "c.6091G>A" "r.(?)" "p.(Val2031Met)" "" "" "0000557415" "00023950" "10" "6078" "0" "6078" "0" "c.6078C>T" "r.(?)" "p.(Val2026=)" "" "" "0000557416" "00023950" "50" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Gly1944Arg)" "" "" "0000557417" "00023950" "70" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Gly1944Arg)" "" "" "0000557418" "00023950" "10" "5827" "0" "5827" "0" "c.5827G>A" "r.(?)" "p.(Val1943Ile)" "" "" "0000557419" "00023950" "30" "5783" "0" "5783" "0" "c.5783C>G" "r.(?)" "p.(Pro1928Arg)" "" "" "0000557420" "00023950" "30" "5757" "0" "5757" "0" "c.5757C>T" "r.(?)" "p.(Phe1919=)" "" "" "0000557422" "00023950" "30" "5661" "0" "5661" "0" "c.5661C>T" "r.(?)" "p.(Ile1887=)" "" "" "0000557423" "00023950" "30" "5611" "0" "5611" "0" "c.5611G>A" "r.(?)" "p.(Ala1871Thr)" "" "" "0000557424" "00023950" "30" "5363" "0" "5363" "0" "c.5363G>A" "r.(?)" "p.(Gly1788Asp)" "" "" "0000557426" "00023950" "30" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Gly1639=)" "" "" "0000557428" "00023950" "10" "4674" "0" "4674" "0" "c.4674G>A" "r.(?)" "p.(Thr1558=)" "" "" "0000557429" "00023950" "50" "4657" "0" "4659" "0" "c.4657_4659del" "r.(?)" "p.(Val1553del)" "" "" "0000557430" "00023950" "30" "4565" "0" "4565" "0" "c.4565A>C" "r.(?)" "p.(Asp1522Ala)" "" "" "0000557431" "00023950" "30" "4546" "0" "4546" "0" "c.4546G>A" "r.(?)" "p.(Ala1516Thr)" "" "" "0000557432" "00023950" "50" "4379" "0" "4379" "0" "c.4379T>G" "r.(?)" "p.(Val1460Gly)" "" "" "0000557433" "00023950" "30" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Ala1422Thr)" "" "" "0000557434" "00023950" "10" "4195" "0" "4195" "0" "c.4195T>C" "r.(?)" "p.(Trp1399Arg)" "" "" "0000557435" "00023950" "30" "4018" "0" "4018" "0" "c.4018C>T" "r.(?)" "p.(Arg1340Trp)" "" "" "0000557436" "00023950" "70" "3955" "0" "3955" "0" "c.3955G>A" "r.(?)" "p.(Gly1319Arg)" "" "" "0000557437" "00023950" "50" "3943" "0" "3943" "0" "c.3943G>C" "r.(?)" "p.(Ala1315Pro)" "" "" "0000557439" "00023950" "30" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(His1288Tyr)" "" "" "0000557440" "00023950" "30" "3679" "0" "3679" "0" "c.3679G>T" "r.(?)" "p.(Ala1227Ser)" "" "" "0000557441" "00023950" "30" "3618" "0" "3618" "0" "c.3618G>A" "r.(?)" "p.(Val1206=)" "" "" "0000557442" "00023950" "30" "3548" "0" "3548" "0" "c.3548C>T" "r.(?)" "p.(Ser1183Leu)" "" "" "0000557443" "00023950" "30" "3548" "0" "3548" "0" "c.3548C>T" "r.(?)" "p.(Ser1183Leu)" "" "" "0000557444" "00023950" "30" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Pro1168Ser)" "" "" "0000557446" "00023950" "30" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Pro1127Leu)" "" "" "0000557448" "00023950" "30" "3316" "0" "3316" "0" "c.3316C>G" "r.(?)" "p.(Leu1106Val)" "" "" "0000557449" "00023950" "10" "3296" "-15" "3296" "-15" "c.3296-15G>A" "r.(=)" "p.(=)" "" "" "0000557450" "00023950" "30" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Glu1061=)" "" "" "0000557451" "00023950" "30" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(Asn1034Ser)" "" "" "0000557453" "00023950" "70" "3020" "0" "3020" "0" "c.3020T>C" "r.(?)" "p.(Val1007Ala)" "" "" "0000557454" "00023950" "30" "2986" "-8" "2986" "-8" "c.2986-8C>G" "r.(=)" "p.(=)" "" "" "0000557455" "00023950" "10" "2854" "-5" "2854" "-5" "c.2854-5C>T" "r.spl?" "p.?" "" "" "0000557457" "00023950" "30" "2235" "0" "2235" "0" "c.2235C>G" "r.(?)" "p.(Ala745=)" "" "" "0000557459" "00023950" "30" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Pro731Leu)" "" "" "0000557460" "00023950" "30" "2081" "0" "2081" "0" "c.2081C>T" "r.(?)" "p.(Pro694Leu)" "" "" "0000557461" "00023950" "50" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Ala692Val)" "" "" "0000557462" "00023950" "10" "2039" "0" "2039" "0" "c.2039A>T" "r.(?)" "p.(Tyr680Phe)" "" "" "0000557463" "00023950" "30" "1910" "0" "1910" "0" "c.1910C>T" "r.(?)" "p.(Ala637Val)" "" "" "0000557464" "00023950" "30" "1905" "0" "1905" "0" "c.1905G>C" "r.(?)" "p.(Gln635His)" "" "" "0000557465" "00023950" "30" "1849" "17" "1849" "17" "c.1849+17T>G" "r.(=)" "p.(=)" "" "" "0000557466" "00023950" "10" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Pro572Ser)" "" "" "0000557467" "00023950" "50" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Val466Met)" "" "" "0000557469" "00023950" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Ala427=)" "" "" "0000557472" "00023950" "30" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "" "0000557475" "00023950" "30" "603" "0" "603" "0" "c.603C>G" "r.(?)" "p.(His201Gln)" "" "" "0000557476" "00023950" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "" "" "0000557477" "00023950" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Glu141=)" "" "" "0000557487" "00023950" "30" "107" "0" "107" "0" "c.107C>A" "r.(?)" "p.(Pro36His)" "" "" "0000597001" "00023950" "70" "12381" "0" "12381" "0" "c.12381C>G" "r.(?)" "p.(Tyr4127*)" "45" "" "0000615822" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000615824" "00023950" "50" "49242" "0" "49242" "0" "c.*36330G>A" "r.(=)" "p.(=)" "" "" "0000615825" "00023950" "30" "49173" "0" "49173" "0" "c.*36261G>A" "r.(=)" "p.(=)" "" "" "0000615827" "00023950" "30" "31003" "0" "31003" "0" "c.*18091G>A" "r.(=)" "p.(=)" "" "" "0000615828" "00023950" "10" "30729" "0" "30729" "0" "c.*17817G>A" "r.(=)" "p.(=)" "" "" "0000615829" "00023950" "30" "23538" "0" "23538" "0" "c.*10626G>A" "r.(=)" "p.(=)" "" "" "0000615830" "00023950" "30" "23101" "0" "23101" "0" "c.*10189G>A" "r.(=)" "p.(=)" "" "" "0000615831" "00023950" "30" "18148" "0" "18148" "0" "c.*5236C>T" "r.(=)" "p.(=)" "" "" "0000615832" "00023950" "30" "17983" "0" "17983" "0" "c.*5071G>A" "r.(=)" "p.(=)" "" "" "0000615833" "00023950" "30" "17917" "0" "17917" "0" "c.*5005G>T" "r.(=)" "p.(=)" "" "" "0000615834" "00023950" "90" "16268" "0" "16270" "0" "c.*3356_*3358del" "r.(=)" "p.(=)" "" "" "0000615835" "00023950" "30" "15831" "0" "15831" "0" "c.*2919G>A" "r.(=)" "p.(=)" "" "" "0000615836" "00023950" "30" "15801" "0" "15801" "0" "c.*2889G>A" "r.(=)" "p.(=)" "" "" "0000615837" "00023950" "30" "12253" "0" "12253" "0" "c.12253C>T" "r.(?)" "p.(Leu4085=)" "" "" "0000615838" "00023950" "50" "12004" "-3" "12004" "-2" "c.12004-3_12004-2dup" "r.spl?" "p.?" "" "" "0000615839" "00023950" "10" "11682" "0" "11682" "0" "c.11682C>T" "r.(?)" "p.(Ser3894=)" "" "" "0000615840" "00023950" "50" "10984" "0" "10984" "0" "c.10984C>T" "r.(?)" "p.(Arg3662Cys)" "" "" "0000615841" "00023950" "50" "10940" "0" "10940" "0" "c.10940G>A" "r.(?)" "p.(Arg3647Gln)" "" "" "0000615842" "00023950" "30" "10939" "0" "10939" "0" "c.10939C>T" "r.(?)" "p.(Arg3647Trp)" "" "" "0000615843" "00023950" "90" "10443" "0" "10443" "0" "c.10443dup" "r.(?)" "p.(Ser3482GlnfsTer145)" "" "" "0000615844" "00023950" "30" "9884" "0" "9884" "0" "c.9884A>G" "r.(?)" "p.(Asn3295Ser)" "" "" "0000615845" "00023950" "30" "8713" "0" "8713" "0" "c.8713G>A" "r.(?)" "p.(Val2905Ile)" "" "" "0000615846" "00023950" "30" "8459" "0" "8459" "0" "c.8459G>T" "r.(?)" "p.(Ser2820Ile)" "" "" "0000615847" "00023950" "10" "8439" "0" "8439" "0" "c.8439C>T" "r.(?)" "p.(Ser2813=)" "" "" "0000615848" "00023950" "30" "8273" "0" "8273" "0" "c.8273C>T" "r.(?)" "p.(Ala2758Val)" "" "" "0000615849" "00023950" "30" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "" "" "0000615850" "00023950" "30" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "" "" "0000615851" "00023950" "30" "6488" "0" "6488" "0" "c.6488G>A" "r.(?)" "p.(Arg2163Gln)" "" "" "0000615852" "00023950" "50" "5600" "0" "5600" "0" "c.5600A>G" "r.(?)" "p.(Asn1867Ser)" "" "" "0000615853" "00023950" "30" "5577" "0" "5577" "0" "c.5577T>C" "r.(?)" "p.(Ala1859=)" "" "" "0000615854" "00023950" "30" "5070" "0" "5070" "0" "c.5070C>T" "r.(?)" "p.(Ala1690=)" "" "" "0000615855" "00023950" "30" "4524" "0" "4524" "0" "c.4524C>T" "r.(?)" "p.(Leu1508=)" "" "" "0000615856" "00023950" "10" "4495" "0" "4495" "0" "c.4495C>T" "r.(?)" "p.(Leu1499=)" "" "" "0000615857" "00023950" "30" "3596" "0" "3596" "0" "c.3596G>C" "r.(?)" "p.(Gly1199Ala)" "" "" "0000615858" "00023950" "30" "3502" "0" "3502" "0" "c.3502C>G" "r.(?)" "p.(Pro1168Ala)" "" "" "0000615859" "00023950" "10" "2694" "0" "2694" "0" "c.2694A>C" "r.(?)" "p.(Ala898=)" "" "" "0000615860" "00023950" "30" "2102" "0" "2102" "0" "c.2102C>A" "r.(?)" "p.(Thr701Asn)" "" "" "0000615861" "00023950" "30" "1849" "14" "1849" "14" "c.1849+14T>G" "r.(=)" "p.(=)" "" "" "0000615862" "00023950" "70" "1722" "3" "1722" "3" "c.1722+3A>C" "r.spl?" "p.?" "" "" "0000615863" "00023950" "30" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Ala291Ser)" "" "" "0000615864" "00023950" "30" "503" "0" "503" "0" "c.503G>C" "r.(?)" "p.(Gly168Ala)" "" "" "0000623394" "00023950" "30" "58970" "0" "58970" "0" "c.*46058G>A" "r.(=)" "p.(=)" "" "" "0000623395" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000623398" "00023950" "30" "41850" "0" "41850" "0" "c.*28938G>A" "r.(=)" "p.(=)" "" "" "0000623399" "00023950" "10" "39651" "0" "39651" "0" "c.*26739C>T" "r.(=)" "p.(=)" "" "" "0000623400" "00023950" "30" "38218" "0" "38218" "0" "c.*25306G>A" "r.(=)" "p.(=)" "" "" "0000623401" "00023950" "30" "32081" "0" "32081" "0" "c.*19169C>T" "r.(=)" "p.(=)" "" "" "0000623402" "00023950" "30" "26801" "0" "26801" "0" "c.*13889G>A" "r.(=)" "p.(=)" "" "" "0000623403" "00023950" "50" "26151" "0" "26151" "0" "c.*13239G>T" "r.(=)" "p.(=)" "" "" "0000623405" "00023950" "30" "18339" "0" "18339" "0" "c.*5427C>T" "r.(=)" "p.(=)" "" "" "0000623406" "00023950" "30" "10122" "0" "10122" "0" "c.10122C>T" "r.(?)" "p.(Ser3374=)" "" "" "0000623408" "00023950" "30" "7821" "0" "7821" "0" "c.7821C>T" "r.(?)" "p.(His2607=)" "" "" "0000623409" "00023950" "30" "7543" "0" "7543" "0" "c.7543C>T" "r.(?)" "p.(Arg2515Trp)" "" "" "0000623410" "00023950" "30" "7463" "0" "7463" "0" "c.7463C>T" "r.(?)" "p.(Thr2488Ile)" "" "" "0000623411" "00023950" "50" "6620" "0" "6620" "0" "c.6620C>T" "r.(?)" "p.(Pro2207Leu)" "" "" "0000623412" "00023950" "30" "5758" "0" "5758" "0" "c.5758C>T" "r.(?)" "p.(Arg1920Cys)" "" "" "0000623413" "00023950" "30" "4541" "0" "4541" "0" "c.4541C>G" "r.(?)" "p.(Thr1514Ser)" "" "" "0000623414" "00023950" "30" "4486" "0" "4486" "0" "c.4486G>A" "r.(?)" "p.(Ala1496Thr)" "" "" "0000623415" "00023950" "30" "4452" "0" "4452" "0" "c.4452G>T" "r.(?)" "p.(Pro1484=)" "" "" "0000623416" "00023950" "30" "1707" "0" "1707" "0" "c.1707G>A" "r.(?)" "p.(Pro569=)" "" "" "0000638690" "00023950" "10" "11338" "0" "11338" "0" "c.11338G>A" "r.(?)" "p.(Asp3780Asn)" "" "" "0000638691" "00023950" "70" "3772" "0" "3772" "0" "c.3772G>A" "r.(?)" "p.(Ala1258Thr)" "" "" "0000649274" "00023950" "10" "12004" "-34" "12004" "-34" "c.12004-34C>A" "r.(=)" "p.(=)" "" "" "0000649275" "00023950" "50" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "" "" "0000649276" "00023950" "30" "5851" "0" "5851" "0" "c.5851C>T" "r.(?)" "p.(Arg1951Trp)" "" "" "0000657767" "00023950" "30" "57918" "0" "57918" "0" "c.*45006G>A" "r.(=)" "p.(=)" "" "" "0000657769" "00023950" "10" "54551" "0" "54571" "0" "c.*41639_*41659del" "r.(=)" "p.(=)" "" "" "0000657770" "00023950" "10" "49251" "0" "49251" "0" "c.*36339G>A" "r.(=)" "p.(=)" "" "" "0000657771" "00023950" "50" "43820" "0" "43820" "0" "c.*30908G>C" "r.(=)" "p.(=)" "" "" "0000657772" "00023950" "30" "41875" "0" "41875" "0" "c.*28963G>A" "r.(=)" "p.(=)" "" "" "0000657773" "00023950" "30" "40082" "0" "40082" "0" "c.*27170C>T" "r.(=)" "p.(=)" "" "" "0000657774" "00023950" "30" "40060" "0" "40060" "0" "c.*27148G>A" "r.(=)" "p.(=)" "" "" "0000657775" "00023950" "50" "26552" "0" "26552" "0" "c.*13640A>G" "r.(=)" "p.(=)" "" "" "0000657776" "00023950" "30" "23544" "0" "23544" "0" "c.*10632C>T" "r.(=)" "p.(=)" "" "" "0000657777" "00023950" "10" "22397" "0" "22397" "0" "c.*9485G>A" "r.(=)" "p.(=)" "" "" "0000657778" "00023950" "50" "20992" "0" "20992" "0" "c.*8080C>T" "r.(=)" "p.(=)" "" "" "0000657779" "00023950" "30" "14689" "0" "14689" "0" "c.*1777C>T" "r.(=)" "p.(=)" "" "" "0000657780" "00023950" "30" "14416" "0" "14416" "0" "c.*1504G>C" "r.(=)" "p.(=)" "" "" "0000657781" "00023950" "30" "14305" "0" "14305" "0" "c.*1393A>G" "r.(=)" "p.(=)" "" "" "0000657782" "00023950" "30" "11538" "-11" "11538" "-11" "c.11538-11C>T" "r.(=)" "p.(=)" "" "" "0000657783" "00023950" "30" "6297" "0" "6297" "0" "c.6297G>T" "r.(?)" "p.(Gly2099=)" "" "" "0000657784" "00023950" "30" "3738" "0" "3738" "0" "c.3738C>T" "r.(?)" "p.(Asp1246=)" "" "" "0000657785" "00023950" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Gly218Asp)" "" "" "0000660207" "00023950" "50" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "" "0000667208" "00023950" "70" "7428" "0" "7428" "0" "c.7428C>G" "r.(?)" "p.(Cys2476Trp)" "" "" "0000667218" "00023950" "90" "12604" "0" "12631" "0" "c.12604_12631del" "r.(?)" "p.(Gly4202Serfs*147)" "" "" "0000667219" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672Glyfs*98)" "" "" "0000667228" "00023950" "90" "6264" "0" "6264" "0" "c.6264dup" "r.(?)" "p.(Arg2089Alafs*19)" "" "" "0000667229" "00023950" "90" "12301" "0" "12301" "0" "c.12301del" "r.(?)" "p.(Leu4101Trpfs*97)" "" "" "0000667230" "00023950" "90" "12604" "0" "12631" "0" "c.12604_12631del" "r.(?)" "p.(Gly4202Serfs*147)" "" "" "0000667231" "00023950" "90" "9340" "0" "9340" "0" "c.9340C>T" "r.(?)" "p.(Gln3114*)" "" "" "0000667235" "00023950" "90" "7421" "0" "7421" "0" "c.7421dup" "r.(?)" "p.(Ser2475Leufs*26)" "" "" "0000667236" "00023950" "90" "2711" "0" "2712" "0" "c.2711_2712del" "r.(?)" "p.(Glu904Glyfs*196)" "" "" "0000667238" "00023950" "90" "6264" "0" "6264" "0" "c.6264dup" "r.(?)" "p.(Arg2089Alafs*19)" "" "" "0000667556" "00023950" "90" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "" "" "0000671211" "00023950" "90" "-1" "0" "6915" "1" "c.(?_-1)_(6915+1_6916-1)del" "r.0?" "p.0?" "1_15i" "" "0000671212" "00023950" "90" "-1" "0" "8016" "1" "c.(?_-1)_(8016+1_8017-1)del" "r.0?" "p.0?" "1_21i" "" "0000671213" "00023950" "90" "-1" "0" "215" "1" "c.(?_-1)_(215+1_216-1)del" "r.0?" "p.0?" "_1_1i" "" "0000671214" "00023950" "30" "-117" "0" "-117" "0" "c.-117G>T" "r.(?)" "p.(=)" "1" "" "0000671215" "00023950" "30" "-108" "0" "-108" "0" "c.-108C>T" "r.(?)" "p.(=)" "1" "" "0000671216" "00023950" "30" "-76" "0" "-76" "0" "c.-76G>C" "r.(?)" "p.(=)" "1" "" "0000671217" "00023950" "30" "-67" "0" "-67" "0" "c.-67C>T" "r.(?)" "p.(=)" "1" "" "0000671218" "00023950" "30" "-61" "0" "-61" "0" "c.-61T>C" "r.(?)" "p.(=)" "1" "" "0000671219" "00023950" "30" "-52" "0" "-52" "0" "c.-52C>T" "r.(?)" "p.(=)" "1" "" "0000671220" "00023950" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(Met1dup)" "1" "" "0000671221" "00023950" "90" "0" "0" "0" "0" "c.-209_(11269+1_11270-1){0}" "r.0?" "p.0?" "_1_39i" "" "0000671222" "00023950" "90" "-1" "0" "215" "1" "c.(?_-1)_(215+1_216-1)del" "r.0?" "p.0?" "_1_1i" "" "0000671223" "00023950" "50" "8" "0" "8" "0" "c.8C>G" "r.(?)" "p.(Pro3Arg)" "1" "" "0000671224" "00023950" "90" "13" "0" "25" "0" "c.13_25del" "r.(?)" "p.(Ala5Trpfs*64)" "1" "" "0000671225" "00023950" "90" "24" "0" "27" "0" "c.24_27del" "r.(?)" "p.(Leu9Argfs*63)" "1" "" "0000671226" "00023950" "90" "29" "0" "46" "0" "c.29_46del" "r.(?)" "p.(Ala10_Leu15del)" "1" "" "0000671227" "00023950" "70" "38" "0" "38" "0" "c.38T>A" "r.(?)" "p.(Leu13Gln)" "1" "" "0000671228" "00023950" "70" "46" "0" "51" "0" "c.46_51del" "r.(?)" "p.(Gly16_Leu17del)" "1" "" "0000671229" "00023950" "90" "63" "0" "75" "0" "c.63_75del" "r.(?)" "p.(Leu22Profs*47)" "1" "" "0000671230" "00023950" "90" "74" "0" "74" "0" "c.74del" "r.(?)" "p.(Gly25Alafs*48)" "1" "" "0000671231" "00023950" "90" "74" "0" "75" "0" "c.74_75delinsA" "r.(?)" "p.(Gly25Aspfs*48)" "1" "" "0000671232" "00023950" "50" "74" "0" "74" "0" "c.74G>T" "r.(?)" "p.(Gly25Val)" "1" "" "0000671233" "00023950" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "1" "" "0000671234" "00023950" "70" "97" "0" "105" "0" "c.97_105del" "r.(?)" "p.(Cys33_Pro35del)" "1" "" "0000671235" "00023950" "90" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Cys33Trpfs*40)" "1" "" "0000671236" "00023950" "90" "102" "0" "103" "0" "c.102_103del" "r.(?)" "p.(Glu34Aspfs*79)" "1" "" "0000671237" "00023950" "30" "107" "0" "107" "0" "c.107C>A" "r.(?)" "p.(Pro36His)" "1" "" "0000671238" "00023950" "90" "107" "0" "108" "0" "c.107_108dup" "r.(?)" "p.(Cys37Profs*37)" "1" "" "0000671239" "00023950" "90" "108" "0" "108" "0" "c.108dup" "r.(?)" "p.(Cys37Leufs*77)" "1" "" "0000671240" "00023950" "90" "109" "0" "109" "0" "c.109del" "r.(?)" "p.(Cys37Alafs*36)" "1" "" "0000671241" "00023950" "90" "111" "0" "111" "0" "c.111C>A" "r.(?)" "p.(Cys37*)" "1" "" "0000671242" "00023950" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "1" "" "0000671243" "00023950" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(=)" "1" "" "0000671244" "00023950" "70" "140" "0" "140" "0" "c.140G>C" "r.(?)" "p.(Cys47Ser)" "1" "" "0000671245" "00023950" "30" "144" "0" "144" "0" "c.144C>G" "r.(?)" "p.(=)" "1" "" "0000671246" "00023950" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(=)" "1" "" "0000671247" "00023950" "70" "152" "0" "152" "0" "c.152G>C" "r.(?)" "p.(Cys51Ser)" "1" "" "0000671248" "00023950" "90" "153" "0" "153" "0" "c.153del" "r.(?)" "p.(Ser52Argfs*21)" "1" "" "0000671249" "00023950" "70" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Cys51Trp)" "1" "" "0000671250" "00023950" "70" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Leu)" "1" "" "0000671251" "00023950" "90" "158" "0" "179" "0" "c.158_179del" "r.(?)" "p.(Gly53Valfs*13)" "1" "" "0000671252" "00023950" "90" "165" "0" "171" "0" "c.165_171del" "r.(?)" "p.(Leu56Argfs*15)" "1" "" "0000671253" "00023950" "30" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Trp)" "1" "" "0000671254" "00023950" "30" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "1" "" "0000671255" "00023950" "30" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(=)" "1" "" "0000671256" "00023950" "70" "215" "0" "215" "0" "c.215T>A" "r.(?)" "p.(Leu72Gln)" "1" "" "0000671257" "00023950" "90" "216" "-1" "7489" "1" "c.(215+1_216-1)_(7489+1_7490-1)del" "r.?" "p.(Asp73Leufs*3)" "1i_18" "" "0000671258" "00023950" "90" "216" "-1725" "788" "0" "c.216-1725_788del" "r.spl" "p.?" "1i_5" "" "0000671259" "00023950" "30" "216" "-79" "216" "-79" "c.216-79C>T" "r.(?)" "p.(=)" "1i" "" "0000671260" "00023950" "90" "216" "-1" "216" "-1" "c.216-1G>C" "r.spl" "p.?" "1i" "" "0000671261" "00023950" "70" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ser75Phe)" "2" "" "0000671262" "00023950" "70" "230" "0" "230" "0" "c.230A>G" "r.(?)" "p.(Asn77Ser)" "2" "" "0000671263" "00023950" "70" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Leu79Pro)" "2" "" "0000671264" "00023950" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "2" "" "0000671265" "00023950" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "2" "" "0000671266" "00023950" "50" "259" "0" "259" "0" "c.259C>A" "r.(?)" "p.(Leu87Met)" "2" "" "0000671267" "00023950" "30" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "2" "" "0000671268" "00023950" "50" "266" "0" "266" "0" "c.266A>C" "r.(?)" "p.(Asn89Thr)" "2" "" "0000671269" "00023950" "90" "271" "0" "272" "0" "c.271_272del" "r.(?)" "p.(Ser91Glyfs*22)" "2" "" "0000671270" "00023950" "90" "272" "0" "272" "0" "c.272C>A" "r.(?)" "p.(Ser91*)" "2" "" "0000671271" "00023950" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Ala92Thr)" "2" "" "0000671272" "00023950" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(=)" "2" "" "0000671273" "00023950" "70" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Leu96Pro)" "2" "" "0000671274" "00023950" "70" "287" "4" "287" "4" "c.287+4A>C" "r.spl?" "p.?" "2i" "" "0000671275" "00023950" "30" "288" "-32" "288" "-32" "c.288-32A>G" "r.(?)" "p.(=)" "2i" "" "0000671276" "00023950" "30" "288" "-21" "288" "-21" "c.288-21C>T" "r.(?)" "p.(=)" "2i" "" "0000671277" "00023950" "30" "288" "-11" "288" "-11" "c.288-11G>C" "r.(?)" "p.(=)" "2i" "" "0000671278" "00023950" "30" "288" "-3" "288" "-3" "c.288-3C>T" "r.spl?" "p.(=)" "2i" "" "0000671279" "00023950" "90" "288" "-2" "288" "-2" "c.288-2A>G" "r.spl" "p.?" "2i" "" "0000671280" "00023950" "30" "288" "0" "288" "0" "c.288G>A" "r.(?)" "p.(=)" "3" "" "0000671281" "00023950" "70" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Asp97Gly)" "3" "" "0000671282" "00023950" "70" "296" "0" "296" "0" "c.296G>T" "r.(?)" "p.(Ser99Ile)" "3" "" "0000671283" "00023950" "70" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Asn101Asp)" "3" "" "0000671284" "00023950" "70" "303" "0" "305" "0" "c.303_305del" "r.(?)" "p.(Asn101del)" "3" "" "0000671285" "00023950" "70" "308" "0" "308" "0" "c.308T>C" "r.(?)" "p.(Ile103Thr)" "3" "" "0000671286" "00023950" "30" "313" "0" "313" "0" "c.313A>T" "r.(?)" "p.(Thr105Ser)" "3" "" "0000671287" "00023950" "90" "322" "0" "322" "0" "c.322G>T" "r.(?)" "p.(Glu108*)" "3" "" "0000671288" "00023950" "70" "323" "0" "325" "0" "c.323_325del" "r.(?)" "p.(Glu108del)" "3" "" "0000671289" "00023950" "30" "327" "0" "327" "0" "c.327A>T" "r.(?)" "p.(=)" "3" "" "0000671290" "00023950" "30" "333" "0" "333" "0" "c.333T>G" "r.(?)" "p.(Phe111Leu)" "3" "" "0000671291" "00023950" "90" "341" "0" "345" "0" "c.341_345del" "r.(?)" "p.(Leu114*)" "3" "" "0000671292" "00023950" "90" "348" "0" "352" "0" "c.348_352del" "r.(?)" "p.(Asn116Lysfs*2)" "3" "" "0000671293" "00023950" "70" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Ile120Thr)" "3" "" "0000671294" "00023950" "90" "359" "1" "359" "1" "c.359+1G>A" "r.spl" "p.?" "3i" "" "0000671295" "00023950" "90" "359" "2" "359" "2" "c.359+2T>C" "r.spl" "p.?" "3i" "" "0000671296" "00023950" "50" "360" "-5" "360" "-5" "c.360-5T>C" "r.spl?" "p.(=)" "3i" "" "0000671297" "00023950" "70" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Asn125Asp)" "4" "" "0000671298" "00023950" "90" "383" "0" "386" "0" "c.383_386del" "r.(?)" "p.(Glu128Valfs*161)" "4" "" "0000671299" "00023950" "70" "385" "0" "385" "0" "c.385T>C" "r.(?)" "p.(Cys129Arg)" "4" "" "0000671300" "00023950" "90" "393" "0" "394" "0" "c.393_394del" "r.(?)" "p.(Cys131Trpfs*47)" "4" "" "0000671301" "00023950" "50" "400" "0" "400" "0" "c.400G>C" "r.(?)" "p.(Ala134Pro)" "4" "" "0000671302" "00023950" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138*)" "4" "" "0000671303" "00023950" "70" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Trp139Cys)" "4" "" "0000671304" "00023950" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ala140Val)" "4" "" "0000671305" "00023950" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(=)" "4" "" "0000671306" "00023950" "70" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Cys155Tyr)" "4" "" "0000671307" "00023950" "30" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Gly157Glu)" "4" "" "0000671308" "00023950" "90" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Ala162Valfs*128)" "4" "" "0000671309" "00023950" "30" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(Gln164Arg)" "4" "" "0000671310" "00023950" "30" "503" "0" "503" "0" "c.503G>C" "r.(?)" "p.(Gly168Ala)" "4" "" "0000671311" "00023950" "90" "529" "1" "529" "1" "c.529+1G>A" "r.spl" "p.?" "4i" "" "0000671312" "00023950" "70" "529" "5" "529" "5" "c.529+5G>A" "r.spl?" "p.?" "4i" "" "0000671313" "00023950" "30" "529" "10" "529" "10" "c.529+10G>A" "r.(?)" "p.(=)" "4i" "" "0000671314" "00023950" "30" "530" "-27" "530" "-26" "c.530-27_530-26dup" "r.(?)" "p.(=)" "4i" "" "0000671315" "00023950" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Cys183Tyr)" "5" "" "0000671316" "00023950" "90" "566" "0" "566" "0" "c.566C>A" "r.(?)" "p.(Ser189*)" "5" "" "0000671317" "00023950" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(=)" "5" "" "0000671318" "00023950" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "5" "" "0000671319" "00023950" "90" "585" "0" "585" "0" "c.585del" "r.(?)" "p.(Ser196Profs*94)" "5" "" "0000671320" "00023950" "30" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(=)" "5" "" "0000671321" "00023950" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(=)" "5" "" "0000671322" "00023950" "30" "603" "0" "603" "0" "c.603C>R" "r.(?)" "p.(His201Gln)" "5" "" "0000671323" "00023950" "90" "616" "0" "616" "0" "c.616dup" "r.(?)" "p.(Gln206Profs*55)" "5" "" "0000671324" "00023950" "90" "617" "0" "617" "0" "c.617dup" "r.(?)" "p.(Pro207Alafs*54)" "5" "" "0000671325" "00023950" "90" "627" "0" "627" "0" "c.627dup" "r.(?)" "p.(Cys210Leufs*51)" "5" "" "0000671326" "00023950" "90" "627" "0" "633" "0" "c.627_633del" "r.(?)" "p.(Cys210Profs*78)" "5" "" "0000671327" "00023950" "70" "628" "0" "628" "0" "c.628T>G" "r.(?)" "p.(Cys210Gly)" "5" "" "0000671328" "00023950" "70" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Cys210Phe)" "5" "" "0000671329" "00023950" "70" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Cys210Tyr)" "5" "" "0000671330" "00023950" "90" "628" "0" "631" "0" "c.628_631dup" "r.(?)" "p.(Ser211Metfs*51)" "5" "" "0000671331" "00023950" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(=)" "5" "" "0000671332" "00023950" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "5" "" "0000671333" "00023950" "90" "661" "0" "701" "0" "c.661_701del" "r.(?)" "p.(Leu221Glyfs*26)" "5" "" "0000671334" "00023950" "30" "669" "0" "669" "0" "c.669C>T" "r.(?)" "p.(=)" "5" "" "0000671335" "00023950" "90" "673" "0" "674" "0" "c.673_674del" "r.(?)" "p.(Ser225Glyfs*35)" "5" "" "0000671336" "00023950" "70" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ser225Leu)" "5" "" "0000671337" "00023950" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "5" "" "0000671338" "00023950" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Gln227*)" "5" "" "0000671339" "00023950" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "5" "" "0000671340" "00023950" "90" "690" "0" "690" "0" "c.690C>A" "r.(?)" "p.(Cys230*)" "5" "" "0000671341" "00023950" "70" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Cys232Tyr)" "5" "" "0000671342" "00023950" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "5" "" "0000671343" "00023950" "30" "726" "0" "726" "0" "c.726T>C" "r.(?)" "p.(=)" "5" "" "0000671344" "00023950" "90" "726" "0" "726" "0" "c.726dup" "r.(?)" "p.(Ala243Cysfs*18)" "4" "" "0000671345" "00023950" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Leu247Phe)" "5" "" "0000671346" "00023950" "90" "755" "0" "755" "0" "c.755dup" "r.(?)" "p.(Pro253Alafs*8)" "5" "" "0000671347" "00023950" "50" "755" "0" "755" "0" "c.755C>G" "r.(?)" "p.(Pro252Arg)" "5" "" "0000671348" "00023950" "30" "759" "0" "759" "0" "c.759A>G" "r.(?)" "p.(=)" "5" "" "0000671349" "00023950" "70" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Cys259Tyr)" "5" "" "0000671350" "00023950" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(=)" "5" "" "0000671351" "00023950" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Gln266*)" "5" "" "0000671352" "00023950" "70" "812" "0" "812" "0" "c.812C>A" "r.(?)" "p.(Ala271Asp)" "5" "" "0000671353" "00023950" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(=)" "5" "" "0000671354" "00023950" "70" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Thr276Ile)" "5" "" "0000671355" "00023950" "30" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(=)" "5" "" "0000671356" "00023950" "90" "837" "0" "837" "0" "c.837dup" "r.(?)" "p.(Pro280Alafs*91)" "5" "" "0000671357" "00023950" "50" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Ala285Val)" "5" "" "0000671358" "00023950" "90" "856" "0" "862" "0" "c.856_862del" "r.(?)" "p.(Gly287*)" "5" "" "0000671359" "00023950" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288*)" "5" "" "0000671360" "00023950" "30" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Ala291Ser)" "5" "" "0000671361" "00023950" "90" "912" "0" "913" "0" "c.912_913insAG" "r.(?)" "p.(Trp305Serfs*30)" "5" "" "0000671362" "00023950" "90" "913" "0" "914" "0" "c.913_914insAG" "r.(?)" "p.(Trp305*)" "5" "" "0000671363" "00023950" "90" "912" "0" "913" "0" "c.912_913dup" "r.(?)" "p.(Trp305Serfs*30)" "5" "" "0000671364" "00023950" "70" "915" "0" "915" "0" "c.915G>T" "r.(?)" "p.(Trp305Cys)" "5" "" "0000671365" "00023950" "90" "926" "0" "939" "0" "c.926_939del" "r.(?)" "p.(Asp309Glyfs*57)" "5" "" "0000671366" "00023950" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(=)" "5" "" "0000671367" "00023950" "90" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Glu313*)" "5" "" "0000671368" "00023950" "70" "959" "0" "960" "0" "c.959_960insGAG" "r.(?)" "p.(Ala320_Ala321insSer)" "5" "" "0000671369" "00023950" "90" "960" "0" "980" "0" "c.960_980del" "r.(?)" "p.(Ala321_Leu327del)" "5" "" "0000671370" "00023950" "90" "962" "0" "1006" "0" "c.962_1006del" "r.(?)" "p.(Ala321_Ala335del)" "5" "" "0000671371" "00023950" "70" "967" "0" "967" "0" "c.967C>G" "r.(?)" "p.(His323Asp)" "5" "" "0000671372" "00023950" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "5" "" "0000671373" "00023950" "30" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "5" "" "0000671374" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "5" "" "0000671375" "00023950" "90" "993" "0" "993" "0" "c.993del" "r.(?)" "p.(His332Thrfs*2)" "5" "" "0000671376" "00023950" "30" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(=)" "5" "" "0000671377" "00023950" "90" "1009" "0" "1015" "0" "c.1009_1015del" "r.(?)" "p.(Leu337Trpfs*126)" "5" "" "0000671378" "00023950" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(=)" "5" "" "0000671379" "00023950" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Gln351*)" "5" "" "0000671380" "00023950" "90" "1087" "0" "1144" "0" "c.1087_1144del" "r.(?)" "p.(Cys363Valfs*83)" "5" "" "0000671381" "00023950" "30" "1104" "0" "1104" "0" "c.1104G>A" "r.(?)" "p.(=)" "5" "" "0000671382" "00023950" "90" "1105" "0" "1106" "0" "c.1105_1106del" "r.(?)" "p.(Ser369*)" "5" "" "0000671383" "00023950" "90" "1111" "0" "1111" "0" "c.1111G>T" "r.(?)" "p.(Glu371*)" "5" "" "0000671384" "00023950" "30" "1115" "0" "1115" "0" "c.1115G>A" "r.(?)" "p.(Ser372Asn)" "5" "" "0000671385" "00023950" "30" "1117" "0" "1117" "0" "c.1117C>G" "r.(?)" "p.(Leu373Val)" "5" "" "0000671386" "00023950" "30" "1119" "0" "1119" "0" "c.1119T>C" "r.(?)" "p.(=)" "5" "" "0000671387" "00023950" "50" "1137" "0" "1137" "0" "c.1137C>G" "r.(?)" "p.(Asn379Lys)" "5" "" "0000671388" "00023950" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Gly381Cys)" "5" "" "0000671389" "00023950" "70" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Ser)" "5" "" "0000671390" "00023950" "50" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Gly382Asp)" "5" "" "0000671391" "00023950" "70" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(Tyr389Cys)" "5" "" "0000671392" "00023950" "30" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(=)" "5" "" "0000671393" "00023950" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(=)" "5" "" "0000671394" "00023950" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400*)" "5" "" "0000671395" "00023950" "30" "1202" "-48" "1202" "-48" "c.1202-48C>A" "r.(?)" "p.(=)" "5i" "" "0000671396" "00023950" "70" "1202" "-9" "1202" "-9" "c.1202-9G>A" "r.spl" "p.(=)" "5i" "" "0000671397" "00023950" "30" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "6" "" "0000671398" "00023950" "30" "1209" "0" "1209" "0" "c.1209C>T" "r.(?)" "p.(=)" "6" "" "0000671399" "00023950" "50" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Pro404Arg)" "6" "" "0000671400" "00023950" "30" "1248" "0" "1248" "0" "c.1248C>T" "r.(?)" "p.(=)" "6" "" "0000671401" "00023950" "70" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Tyr420Cys)" "6" "" "0000671402" "00023950" "70" "1259" "0" "1259" "0" "c.1259A>C" "r.(?)" "p.(Tyr420Ser)" "6" "" "0000671403" "00023950" "90" "1262" "0" "1263" "0" "c.1262_1263del" "r.(?)" "p.(Arg421Profs*97)" "6" "" "0000671404" "00023950" "70" "1273" "0" "1275" "0" "c.1273_1275del" "r.(?)" "p.(Glu425del)" "6" "" "0000671405" "00023950" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(=)" "6" "" "0000671406" "00023950" "70" "1286" "0" "1286" "0" "c.1286G>T" "r.(?)" "p.(Trp429Leu)" "6" "" "0000671407" "00023950" "90" "1291" "0" "1292" "0" "c.1291_1292insG" "r.(?)" "p.(Gln431Argfs*88)" "6" "" "0000671408" "00023950" "70" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Ala432Thr)" "6" "" "0000671409" "00023950" "70" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "6" "" "0000671410" "00023950" "70" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Cys436Arg)" "6" "" "0000671411" "00023950" "90" "1307" "0" "1308" "0" "c.1307_1308del" "r.(?)" "p.(Cys436Serfs*82)" "6" "" "0000671412" "00023950" "70" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Cys436Tyr)" "6" "" "0000671413" "00023950" "70" "1308" "0" "1308" "0" "c.1308T>G" "r.(?)" "p.(Cys436Trp)" "6" "" "0000671414" "00023950" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(=)" "6" "" "0000671415" "00023950" "70" "1324" "0" "1324" "0" "c.1324G>C" "r.(?)" "p.(Ala442Pro)" "6" "" "0000671416" "00023950" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(=)" "6" "" "0000671417" "00023950" "30" "1335" "0" "1335" "0" "c.1335A>G" "r.(?)" "p.(=)" "6" "" "0000671418" "00023950" "90" "1350" "0" "1350" "0" "c.1350del" "r.(?)" "p.(Ala451Profs*14)" "6" "" "0000671419" "00023950" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Val452Met)" "6" "" "0000671420" "00023950" "90" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Gln453*)" "6" "" "0000671421" "00023950" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Cys)" "6" "" "0000671422" "00023950" "50" "1361" "0" "1361" "0" "c.1361G>C" "r.(?)" "p.(Arg454Pro)" "6" "" "0000671423" "00023950" "30" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(=)" "6" "" "0000671424" "00023950" "70" "1379" "0" "1379" "0" "c.1379T>C" "r.(?)" "p.(Val460Ala)" "6" "" "0000671425" "00023950" "70" "1379" "0" "1379" "0" "c.1379T>A" "r.(?)" "p.(Val460Asp)" "6" "" "0000671426" "00023950" "30" "1385" "26" "1385" "26" "c.1385+26C>T" "r.(?)" "p.(=)" "6i" "" "0000671427" "00023950" "30" "1386" "-71" "1386" "-71" "c.1386-71A>G" "r.(?)" "p.(=)" "6i" "" "0000671428" "00023950" "50" "1386" "-16" "1386" "-16" "c.1386-16C>A" "r.(?)" "p.(=)" "6i" "" "0000671429" "00023950" "50" "1396" "0" "1396" "0" "c.1396G>C" "r.(?)" "p.(Val466Leu)" "7" "" "0000671430" "00023950" "50" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Val466Met)" "7" "" "0000671431" "00023950" "90" "1401" "0" "1401" "0" "c.1401G>A" "r.(?)" "p.(Trp467*)" "7" "" "0000671432" "00023950" "50" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Ser471Leu)" "7" "" "0000671433" "00023950" "90" "1426" "0" "1426" "0" "c.1426dup" "r.(?)" "p.(Val476Glyfs*43)" "7" "" "0000671434" "00023950" "50" "1430" "0" "1430" "0" "c.1430A>T" "r.(?)" "p.(Glu477Val)" "7" "" "0000671435" "00023950" "90" "1492" "0" "1510" "0" "c.1492_1510dup" "r.(?)" "p.(Thr504Argfs*21)" "7" "" "0000671436" "00023950" "90" "1516" "0" "1516" "0" "c.1516G>T" "r.(?)" "p.(Glu506*)" "7" "" "0000671437" "00023950" "70" "1522" "0" "1522" "0" "c.1522T>C" "r.(?)" "p.(Cys508Arg)" "7" "" "0000671438" "00023950" "90" "1524" "0" "1524" "0" "c.1524C>A" "r.(?)" "p.(Cys508*)" "7" "" "0000671439" "00023950" "30" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Val509Ile)" "7" "" "0000671440" "00023950" "30" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510Trp)" "7" "" "0000671441" "00023950" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(=)" "7" "" "0000671442" "00023950" "30" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(=)" "7" "" "0000671443" "00023950" "70" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Gly515Arg)" "7" "" "0000671444" "00023950" "70" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Gly515Trp)" "7" "" "0000671445" "00023950" "30" "1557" "0" "1557" "0" "c.1557C>T" "r.(?)" "p.(=)" "7" "" "0000671446" "00023950" "90" "1564" "0" "1564" "0" "c.1564del" "r.(?)" "p.(Cys522Alafs*36)" "7" "" "0000671447" "00023950" "70" "1576" "0" "1576" "0" "c.1576C>G" "r.(?)" "p.(His526Asp)" "7" "" "0000671448" "00023950" "70" "1583" "0" "1583" "0" "c.1583A>G" "r.(?)" "p.(Tyr528Cys)" "7" "" "0000671449" "00023950" "70" "1589" "0" "1589" "0" "c.1589G>A" "r.(?)" "p.(Cys530Tyr)" "7" "" "0000671450" "00023950" "70" "1590" "0" "1590" "0" "c.1590C>G" "r.(?)" "p.(Cys530Trp)" "7" "" "0000671451" "00023950" "30" "1594" "0" "1594" "0" "c.1594C>G" "r.(?)" "p.(Leu532Val)" "7" "" "0000671452" "00023950" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533*)" "7" "" "0000671453" "00023950" "30" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(=)" "7" "" "0000671454" "00023950" "70" "1606" "0" "1606" "0" "c.1606G>A" "r.spl" "p.(Gly536Ser)" "7" "" "0000671455" "00023950" "90" "1606" "1" "1606" "1" "c.1606+1G>A" "r.spl" "p.?" "7i" "" "0000671456" "00023950" "90" "1606" "2" "1606" "2" "c.1606+2T>C" "r.spl" "p.?" "7i" "" "0000671457" "00023950" "30" "1607" "-39" "1607" "-39" "c.1607-39C>T" "r.(?)" "p.(=)" "7i" "" "0000671458" "00023950" "30" "1607" "-27" "1607" "-27" "c.1607-27C>T" "r.(?)" "p.(=)" "7i" "" "0000671459" "00023950" "90" "1609" "0" "1723" "-44" "c.1609_1723-44del" "r.spl" "p.?" "8" "" "0000671460" "00023950" "30" "1621" "0" "1621" "0" "c.1621G>C" "r.(?)" "p.(Ala541Pro)" "8" "" "0000671461" "00023950" "50" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Glu542Gly)" "8" "" "0000671462" "00023950" "70" "1637" "0" "1639" "0" "c.1637_1639del" "r.(?)" "p.(Val546del)" "8" "" "0000671463" "00023950" "90" "1659" "0" "1659" "0" "c.1659dup" "r.(?)" "p.(Gln554Alafs*33)" "8" "" "0000671464" "00023950" "90" "1664" "0" "1665" "0" "c.1664_1665del" "r.(?)" "p.(Gly555Alafs*31)" "8" "" "0000671465" "00023950" "30" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Pro556Ser)" "8" "" "0000671466" "00023950" "90" "1670" "0" "1670" "0" "c.1670del" "r.(?)" "p.(Leu557Argfs*27)" "8" "" "0000671467" "00023950" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(=)" "8" "" "0000671468" "00023950" "90" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Gln562*)" "8" "" "0000671469" "00023950" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Gln563*)" "8" "" "0000671470" "00023950" "30" "1692" "0" "1692" "0" "c.1692C>T" "r.(?)" "p.(=)" "8" "" "0000671471" "00023950" "90" "1706" "0" "1706" "0" "c.1706del" "r.(?)" "p.(Pro569Argfs*15)" "8" "" "0000671472" "00023950" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(=)" "8" "" "0000671473" "00023950" "30" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Pro572Ser)" "8" "" "0000671474" "00023950" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Val573Met)" "8" "" "0000671475" "00023950" "90" "1722" "1" "1722" "1" "c.1722+1G>A" "r.spl" "p.?" "8i" "" "0000671476" "00023950" "30" "1722" "23" "1722" "23" "c.1722+23C>T" "r.(?)" "p.(=)" "8i" "" "0000671477" "00023950" "90" "1723" "-2" "1723" "-2" "c.1723-2A>C" "r.spl" "p.?" "8i" "" "0000671478" "00023950" "70" "1730" "0" "1730" "0" "c.1730T>G" "r.(?)" "p.(Val577Gly)" "9" "" "0000671479" "00023950" "70" "1736" "0" "1736" "0" "c.1736C>A" "r.(?)" "p.(Pro579Gln)" "9" "" "0000671480" "00023950" "30" "1737" "0" "1737" "0" "c.1737G>A" "r.(?)" "p.(=)" "9" "" "0000671481" "00023950" "90" "1755" "0" "1755" "0" "c.1755dup" "r.(?)" "p.(Glu586*)" "9" "" "0000671482" "00023950" "30" "1758" "0" "1758" "0" "c.1758A>C" "r.(?)" "p.(Glu586Asp)" "9" "" "0000671483" "00023950" "90" "1768" "0" "1768" "0" "c.1768del" "r.(?)" "p.(Thr590Profs*195)" "9" "" "0000671484" "00023950" "90" "1772" "0" "1772" "0" "c.1772del" "r.(?)" "p.(Thr591Argfs*194)" "9" "" "0000671485" "00023950" "90" "1779" "0" "1779" "0" "c.1779del" "r.(?)" "p.(Glu593Aspfs*192)" "9" "" "0000671486" "00023950" "50" "1781" "0" "1781" "0" "c.1781T>A" "r.(?)" "p.(Phe594Tyr)" "9" "" "0000671487" "00023950" "30" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Arg601Trp)" "9" "" "0000671488" "00023950" "70" "1814" "0" "1814" "0" "c.1814T>G" "r.(?)" "p.(Leu605Arg)" "9" "" "0000671489" "00023950" "50" "1826" "0" "1826" "0" "c.1826T>G" "r.(?)" "p.(Val609Gly)" "9" "" "0000671490" "00023950" "90" "1829" "0" "1830" "0" "c.1829_1830insT" "r.(?)" "p.(Arg611Profs*16)" "9" "" "0000671491" "00023950" "70" "1829" "0" "1829" "0" "c.1829A>G" "r.(?)" "p.(Tyr610Cys)" "9" "" "0000671492" "00023950" "70" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Trp)" "9" "" "0000671493" "00023950" "90" "1846" "0" "1846" "0" "c.1846del" "r.(?)" "p.(Ala616Glnfs*169)" "9" "" "0000671494" "00023950" "90" "1849" "1" "1849" "1" "c.1849+1G>T" "r.spl" "p.?" "9i" "" "0000671495" "00023950" "50" "1849" "5" "1849" "6" "c.1849+5_1849+6delinsAT" "r.spl?" "p.(=)" "9i" "" "0000671496" "00023950" "30" "1849" "21" "1849" "34" "c.1849+21_1849+34del" "r.(?)" "p.(=)" "9i" "" "0000671497" "00023950" "30" "1849" "28" "1849" "34" "c.1849+28_1849+34del" "r.(?)" "p.(=)" "9i" "" "0000671498" "00023950" "70" "1849" "19" "1849" "19" "c.1849+19G>A" "r.spl" "p.(=)" "9i" "" "0000671499" "00023950" "50" "1849" "21" "1849" "21" "c.1849+21T>A" "r.(?)" "p.(=)" "9i" "" "0000671500" "00023950" "30" "1849" "21" "1849" "34" "c.1849+21_1849+34del" "r.(?)" "p.(=)" "9i" "" "0000671501" "00023950" "30" "1849" "23" "1849" "23" "c.1849+23G>A" "r.(?)" "p.(=)" "9i" "" "0000671502" "00023950" "30" "1849" "26" "1849" "26" "c.1849+26G>A" "r.(?)" "p.(=)" "9i" "" "0000671503" "00023950" "30" "1849" "28" "1849" "34" "c.1849+28_1849+34del" "r.(?)" "p.(=)" "9i" "" "0000671504" "00023950" "30" "1849" "30" "1849" "30" "c.1849+30G>A" "r.(?)" "p.(=)" "9i" "" "0000671505" "00023950" "30" "1849" "67" "1849" "67" "c.1849+67T>C" "r.(?)" "p.(=)" "9i" "" "0000671506" "00023950" "30" "1849" "91" "1849" "91" "c.1849+91A>G" "r.(?)" "p.(=)" "9i" "" "0000671507" "00023950" "30" "1850" "-44" "1850" "-44" "c.1850-44G>C" "r.(?)" "p.(=)" "9i" "" "0000671508" "00023950" "30" "1850" "-27" "1850" "-27" "c.1850-27G>A" "r.(?)" "p.(=)" "9i" "" "0000671509" "00023950" "30" "1850" "-4" "1850" "-4" "c.1850-4A>G" "r.spl?" "p.(=)" "9i" "" "0000671510" "00023950" "30" "1850" "-4" "1850" "-4" "c.1850-4A>T" "r.spl?" "p.(=)" "9i" "" "0000671511" "00023950" "90" "1850" "-2" "1850" "-2" "c.1850-2A>G" "r.spl" "p.?" "9i" "" "0000671512" "00023950" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(=)" "10" "" "0000671513" "00023950" "30" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Glu624Lys)" "10" "" "0000671514" "00023950" "30" "1885" "0" "1885" "0" "c.1885T>A" "r.(?)" "p.(Ser629Thr)" "10" "" "0000671515" "00023950" "30" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Ser629Phe)" "10" "" "0000671516" "00023950" "30" "1910" "0" "1910" "0" "c.1910C>T" "r.(?)" "p.(Ala637Val)" "10" "" "0000671517" "00023950" "90" "1914" "0" "1914" "0" "c.1914del" "r.(?)" "p.(Ala639Argfs*146)" "10" "" "0000671518" "00023950" "90" "1921" "0" "1949" "0" "c.1921_1949del" "r.(?)" "p.(Met641Glnfs*63)" "10" "" "0000671519" "00023950" "30" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Met641Thr)" "10" "" "0000671520" "00023950" "90" "1926" "0" "1927" "0" "c.1926_1927del" "r.(?)" "p.(Gly644Thrfs*69)" "10" "" "0000671521" "00023950" "90" "1930" "0" "1930" "0" "c.1930G>T" "r.(?)" "p.(Gly644*)" "10" "" "0000671522" "00023950" "30" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" "10" "" "0000671523" "00023950" "30" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "10" "" "0000671524" "00023950" "70" "1967" "0" "1967" "0" "c.1967T>A" "r.(?)" "p.(Leu656Gln)" "10" "" "0000671525" "00023950" "50" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Ala658Thr)" "10" "" "0000671526" "00023950" "90" "1987" "0" "1987" "0" "c.1987del" "r.(?)" "p.(Gln663Argfs*122)" "10" "" "0000671527" "00023950" "90" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Gln663*)" "10" "" "0000671528" "00023950" "30" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Ala666Thr)" "10" "" "0000671529" "00023950" "90" "2016" "0" "2016" "0" "c.2016dup" "r.(?)" "p.(Pro673Alafs*41)" "10" "" "0000671530" "00023950" "90" "2015" "0" "2024" "0" "c.2015_2024dup" "r.(?)" "p.(Pro676Alafs*41)" "10" "" "0000671531" "00023950" "90" "2038" "0" "2038" "0" "c.2038del" "r.(?)" "p.(Tyr680Metfs*105)" "10" "" "0000671532" "00023950" "30" "2039" "0" "2039" "0" "c.2039A>T" "r.(?)" "p.(Tyr680Phe)" "10" "" "0000671533" "00023950" "70" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Glu685Lys)" "10" "" "0000671534" "00023950" "90" "2054" "0" "2055" "0" "c.2054_2055del" "r.(?)" "p.(Glu685Valfs*28)" "10" "" "0000671535" "00023950" "90" "2059" "0" "2059" "0" "c.2059del" "r.(?)" "p.(Leu687Serfs*98)" "10" "" "0000671536" "00023950" "70" "2069" "0" "2069" "0" "c.2069T>A" "r.(?)" "p.(Val690Asp)" "10" "" "0000671537" "00023950" "70" "2069" "0" "2069" "0" "c.2069T>G" "r.(?)" "p.(Val690Gly)" "10" "" "0000671538" "00023950" "30" "2073" "0" "2073" "0" "c.2073C>T" "r.(?)" "p.(=)" "10" "" "0000671539" "00023950" "50" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Ala692Thr)" "10" "" "0000671540" "00023950" "90" "2079" "0" "2079" "0" "c.2079del" "r.(?)" "p.(Ala696Argfs*89)" "10" "" "0000671541" "00023950" "90" "2080" "0" "2081" "0" "c.2080_2081insG" "r.(?)" "p.(Pro694Argfs*20)" "10" "" "0000671542" "00023950" "30" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(=)" "10" "" "0000671543" "00023950" "90" "2085" "0" "2085" "0" "c.2085del" "r.(?)" "p.(Ala696Argfs*89)" "10" "" "0000671544" "00023950" "90" "2085" "0" "2085" "0" "c.2085dup" "r.(?)" "p.(Ala696Argfs*18)" "10" "" "0000671545" "00023950" "30" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Ala696Thr)" "10" "" "0000671546" "00023950" "90" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Gln697*)" "10" "" "0000671547" "00023950" "70" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Tyr698Asp)" "10" "" "0000671548" "00023950" "90" "2097" "1" "2097" "1" "c.2097+1G>A" "r.spl" "p.?" "10i" "" "0000671549" "00023950" "90" "2096" "0" "2097" "23" "c.2096_2097+23del" "r.spl" "p.?" "10i" "" "0000671550" "00023950" "30" "2098" "-29" "2098" "-29" "c.2098-29G>A" "r.(?)" "p.(=)" "10i" "" "0000671551" "00023950" "30" "2098" "-10" "2098" "-10" "c.2098-10C>T" "r.(?)" "p.(=)" "10i" "" "0000671552" "00023950" "30" "2098" "-4" "2098" "-4" "c.2098-4A>G" "r.(?)" "p.(=)" "10i" "" "0000671553" "00023950" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(=)" "11" "" "0000671554" "00023950" "90" "2113" "0" "2113" "0" "c.2113C>T" "r.(?)" "p.(Gln705*)" "11" "" "0000671555" "00023950" "30" "2143" "0" "2143" "0" "c.2143G>T" "r.(?)" "p.(Val715Phe)" "11" "" "0000671556" "00023950" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Gln718*)" "11" "" "0000671557" "00023950" "30" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Leu726Phe)" "11" "" "0000671558" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000671559" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>A" "r.(?)" "p.(Leu727Gln)" "11" "" "0000671560" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>G" "r.(?)" "p.(Leu727Arg)" "11" "" "0000671561" "00023950" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(=)" "11" "" "0000671562" "00023950" "30" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Pro731Leu)" "11" "" "0000671563" "00023950" "90" "2200" "0" "5946" "0" "c.2200_5946delinsAC" "r.(?)" "p.(Gly734_Pro1982del)" "11_15" "" "0000671564" "00023950" "30" "2214" "0" "2214" "0" "c.2214C>G" "r.(?)" "p.(=)" "11" "" "0000671565" "00023950" "90" "2208" "0" "2215" "0" "c.2208_2215dup" "r.(?)" "p.(Gln739Leufs*49)" "11" "" "0000671566" "00023950" "30" "2216" "0" "2216" "0" "c.2216A>G" "r.(?)" "p.(Gln739Arg)" "11" "" "0000671567" "00023950" "30" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Pro741Leu)" "11" "" "0000671568" "00023950" "30" "2227" "0" "2227" "0" "c.2227C>T" "r.(?)" "p.(Leu743Phe)" "11" "" "0000671569" "00023950" "30" "2235" "0" "2235" "0" "c.2235C>G" "r.(?)" "p.(=)" "11" "" "0000671570" "00023950" "30" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Ala747Thr)" "11" "" "0000671571" "00023950" "30" "2244" "0" "2244" "0" "c.2244G>A" "r.(?)" "p.(=)" "11" "" "0000671572" "00023950" "30" "2244" "0" "2244" "0" "c.2244G>C" "r.(?)" "p.(=)" "11" "" "0000671573" "00023950" "90" "2246" "0" "2246" "0" "c.2246C>G" "r.(?)" "p.(Ser749*)" "11" "" "0000671574" "00023950" "50" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Pro755Leu)" "11" "" "0000671575" "00023950" "90" "2269" "0" "2269" "0" "c.2269C>T" "r.(?)" "p.(Gln757*)" "11" "" "0000671576" "00023950" "50" "2294" "0" "2294" "0" "c.2294C>T" "r.(?)" "p.(Pro765Leu)" "11" "" "0000671577" "00023950" "90" "2298" "0" "2308" "0" "c.2298_2308del" "r.(?)" "p.(Cys767Alafs*27)" "11" "" "0000671578" "00023950" "90" "2308" "0" "2308" "0" "c.2308del" "r.(?)" "p.(Arg770Glyfs*15)" "11" "" "0000671579" "00023950" "30" "2319" "0" "2319" "0" "c.2319A>G" "r.(?)" "p.(=)" "11" "" "0000671580" "00023950" "90" "2326" "0" "2326" "0" "c.2326del" "r.(?)" "p.(Glu776Asnfs*9)" "11" "" "0000671581" "00023950" "30" "2338" "0" "2338" "0" "c.2338G>A" "r.(?)" "p.(Val780Met)" "11" "" "0000671582" "00023950" "70" "2387" "0" "2387" "0" "c.2387A>G" "r.(?)" "p.(Tyr796Cys)" "11" "" "0000671583" "00023950" "50" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Arg799Gln)" "11" "" "0000671584" "00023950" "30" "2431" "0" "2431" "0" "c.2431C>G" "r.(?)" "p.(Leu811Val)" "11" "" "0000671585" "00023950" "30" "2433" "0" "2433" "0" "c.2433C>G" "r.(?)" "p.(=)" "11" "" "0000671586" "00023950" "90" "2434" "0" "2434" "0" "c.2434del" "r.(?)" "p.(Ser812Profs*86)" "11" "" "0000671587" "00023950" "30" "2439" "0" "2439" "0" "c.2439C>T" "r.(?)" "p.(=)" "11" "" "0000671588" "00023950" "30" "2448" "0" "2448" "0" "c.2448C>T" "r.(?)" "p.(=)" "11" "" "0000671589" "00023950" "30" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(=)" "11" "" "0000671590" "00023950" "90" "2474" "0" "2478" "0" "c.2474_2478dup" "r.(?)" "p.(Ile827Glyfs*73)" "11" "" "0000671591" "00023950" "90" "2484" "0" "2484" "0" "c.2484C>A" "r.(?)" "p.(Tyr828*)" "11" "" "0000671592" "00023950" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "11" "" "0000671593" "00023950" "90" "2487" "0" "2487" "0" "c.2487dup" "r.(?)" "p.(Ala830Cysfs*42)" "11" "" "0000671594" "00023950" "90" "2494" "0" "2494" "0" "c.2494del" "r.(?)" "p.(Arg832Alafs*66)" "11" "" "0000671595" "00023950" "90" "2494" "0" "2494" "0" "c.2494dup" "r.(?)" "p.(Arg832Profs*40)" "11" "" "0000671596" "00023950" "50" "2494" "0" "2494" "0" "c.2494C>A" "r.(?)" "p.(Arg832Ser)" "11" "" "0000671597" "00023950" "30" "2498" "0" "2498" "0" "c.2498A>G" "r.(?)" "p.(Asp833Gly)" "11" "" "0000671598" "00023950" "30" "2504" "0" "2504" "0" "c.2504G>A" "r.(?)" "p.(Arg835His)" "11" "" "0000671599" "00023950" "30" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(=)" "11" "" "0000671600" "00023950" "30" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Pro839Ser)" "11" "" "0000671601" "00023950" "30" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(=)" "11" "" "0000671602" "00023950" "30" "2527" "0" "2527" "0" "c.2527T>C" "r.(?)" "p.(Ser843Pro)" "11" "" "0000671603" "00023950" "70" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Leu845Ser)" "11" "" "0000671604" "00023950" "90" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Gln848*)" "11" "" "0000671605" "00023950" "30" "2548" "0" "2548" "0" "c.2548G>A" "r.(?)" "p.(Asp850Asn)" "11" "" "0000671606" "00023950" "90" "2582" "0" "2582" "0" "c.2582G>A" "r.(?)" "p.(Trp861*)" "11" "" "0000671607" "00023950" "90" "2615" "0" "2616" "0" "c.2615_2616ins20" "r.(?)" "p.(Asn872fs32*)" "11" "" "0000671608" "00023950" "90" "2618" "0" "2618" "0" "c.2618delinsCC" "r.(?)" "p.(Val873Alafs*32)" "11" "" "0000671609" "00023950" "90" "2618" "0" "2621" "0" "c.2618_2621del" "r.(?)" "p.(Val873Alafs*24)" "11" "" "0000671610" "00023950" "30" "2618" "0" "2618" "0" "c.2618T>C" "r.(?)" "p.(Val873Ala)" "11" "" "0000671611" "00023950" "90" "2619" "0" "2619" "0" "c.2619dup" "r.(?)" "p.(Cys874Leufs*31)" "11" "" "0000671612" "00023950" "90" "2622" "0" "2622" "0" "c.2622C>A" "r.(?)" "p.(Cys874*)" "11" "" "0000671613" "00023950" "30" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Val882Met)" "11" "" "0000671614" "00023950" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(=)" "11" "" "0000671615" "00023950" "90" "2638" "0" "2657" "0" "c.2638_2657dup" "r.(?)" "p.(Trp887Profs*18)" "11" "" "0000671616" "00023950" "30" "2670" "0" "2670" "0" "c.2670C>T" "r.(?)" "p.(=)" "11" "" "0000671617" "00023950" "90" "2674" "0" "2674" "0" "c.2674dup" "r.(?)" "p.(Thr892Asnfs*13)" "11" "" "0000671618" "00023950" "90" "2684" "0" "2685" "0" "c.2684_2685del" "r.(?)" "p.(Ser895Cysfs*9)" "11" "" "0000671619" "00023950" "90" "2687" "0" "2687" "0" "c.2687dup" "r.(?)" "p.(Val897Glyfs*8)" "11" "" "0000671620" "00023950" "30" "2694" "0" "2694" "0" "c.2694A>C" "r.(?)" "p.(=)" "11" "" "0000671621" "00023950" "90" "2699" "0" "2699" "0" "c.2699dup" "r.(?)" "p.(Trp901Valfs*4)" "11" "" "0000671622" "00023950" "30" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(=)" "11" "" "0000671623" "00023950" "30" "2707" "0" "2707" "0" "c.2707A>G" "r.(?)" "p.(Ser903Gly)" "11" "" "0000671624" "00023950" "30" "2719" "0" "2719" "0" "c.2719C>T" "r.(?)" "p.(His907Tyr)" "11" "" "0000671625" "00023950" "70" "2729" "0" "2737" "0" "c.2729_2737del" "r.(?)" "p.(Asp910_Val912del)" "11" "" "0000671626" "00023950" "30" "2730" "0" "2730" "0" "c.2730C>T" "r.(?)" "p.(=)" "11" "" "0000671627" "00023950" "30" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Arg919Trp)" "11" "" "0000671628" "00023950" "50" "2779" "0" "2779" "0" "c.2779A>G" "r.(?)" "p.(Thr927Ala)" "11" "" "0000671629" "00023950" "50" "2780" "0" "2780" "0" "c.2780C>T" "r.(?)" "p.(Thr927Met)" "11" "" "0000671630" "00023950" "30" "2784" "0" "2784" "0" "c.2784G>A" "r.(?)" "p.(=)" "11" "" "0000671631" "00023950" "30" "2808" "0" "2808" "0" "c.2808C>T" "r.(?)" "p.(=)" "11" "" "0000671632" "00023950" "30" "2814" "0" "2814" "0" "c.2814G>A" "r.(?)" "p.(=)" "11" "" "0000671633" "00023950" "70" "2815" "0" "2815" "0" "c.2815C>G" "r.(?)" "p.(Pro939Ala)" "11" "" "0000671634" "00023950" "30" "2829" "0" "2829" "0" "c.2829C>G" "r.(?)" "p.(=)" "11" "" "0000671635" "00023950" "70" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Cys)" "11" "" "0000671636" "00023950" "90" "2833" "0" "2834" "0" "c.2833_2834del" "r.(?)" "p.(Val945Thrfs*155)" "11" "" "0000671637" "00023950" "90" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Gln947*)" "11" "" "0000671638" "00023950" "90" "2840" "0" "2840" "0" "c.2840dup" "r.(?)" "p.(Val949Serfs*152)" "11" "" "0000671639" "00023950" "90" "2853" "1" "2853" "1" "c.2853+1G>A" "r.spl" "p.?" "11i" "" "0000671640" "00023950" "30" "2853" "23" "2853" "23" "c.2853+23C>T" "r.(?)" "p.(=)" "11i" "" "0000671641" "00023950" "30" "2853" "26" "2853" "26" "c.2853+26C>T" "r.(?)" "p.(=)" "11i" "" "0000671642" "00023950" "30" "2853" "61" "2853" "61" "c.2853+61A>C" "r.(?)" "p.(=)" "11i" "" "0000671643" "00023950" "30" "2853" "62" "2853" "62" "c.2853+62C>T" "r.(?)" "p.(=)" "11i" "" "0000671644" "00023950" "90" "2853" "357" "10499" "1992" "c.2853+357_10499+1992del" "r.spl" "p.?" "11i_34i" "" "0000671645" "00023950" "50" "2854" "-9" "2854" "-9" "c.2854-9C>A" "r.(?)" "p.(=)" "11i" "" "0000671646" "00023950" "50" "2854" "-7" "2854" "-7" "c.2854-7C>A" "r.(?)" "p.(=)" "11i" "" "0000671647" "00023950" "30" "2854" "-5" "2854" "-5" "c.2854-5C>T" "r.spl?" "p.(=)" "11i" "" "0000671648" "00023950" "90" "2854" "-2" "2854" "-2" "c.2854-2A>G" "r.spl" "p.?" "11i" "" "0000671649" "00023950" "90" "2854" "-1" "2854" "-1" "c.2854-1G>A" "r.spl" "p.?" "11i" "" "0000671650" "00023950" "90" "2854" "-1" "2854" "-1" "c.2854-1G>T" "r.spl" "p.?" "11i" "" "0000671651" "00023950" "30" "2856" "0" "2856" "0" "c.2856G>A" "r.(?)" "p.(=)" "12" "" "0000671652" "00023950" "90" "2859" "0" "2859" "0" "c.2859C>G" "r.(?)" "p.(Tyr953*)" "12" "" "0000671653" "00023950" "90" "2865" "0" "2865" "0" "c.2865del" "r.(?)" "p.(Val956Trpfs*20)" "12" "" "0000671654" "00023950" "70" "2879" "0" "2879" "0" "c.2879G>A" "r.(?)" "p.(Gly960Asp)" "12" "" "0000671655" "00023950" "70" "2885" "0" "2885" "0" "c.2885A>G" "r.(?)" "p.(Asp962Gly)" "12" "" "0000671656" "00023950" "70" "2899" "0" "2899" "0" "c.2899T>C" "r.(?)" "p.(Trp967Arg)" "12" "" "0000671657" "00023950" "30" "2910" "0" "2910" "0" "c.2910C>T" "r.(?)" "p.(=)" "12" "" "0000671658" "00023950" "50" "2910" "0" "2910" "0" "c.2910C>A" "r.(?)" "p.(Asn970Lys)" "12" "" "0000671659" "00023950" "70" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Ile985_Tyr986delinsAsn)" "12" "" "0000671660" "00023950" "90" "2958" "0" "2958" "0" "c.2958T>G" "r.(?)" "p.(Tyr986*)" "12" "" "0000671661" "00023950" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Gln987*)" "12" "" "0000671662" "00023950" "50" "2961" "0" "2961" "0" "c.2961G>T" "r.(?)" "p.(Gln987His)" "12" "" "0000671663" "00023950" "90" "2962" "0" "2963" "0" "c.2962_2963del" "r.(?)" "p.(Ser988Argfs*112)" "12" "" "0000671664" "00023950" "90" "2966" "0" "2970" "0" "c.2966_2970del" "r.(?)" "p.(Ala989Glyfs*110)" "12" "" "0000671665" "00023950" "90" "2968" "0" "2969" "0" "c.2968_2969delinsT" "r.(?)" "p.(Ala990Trpfs*7)" "12" "" "0000671666" "00023950" "30" "2968" "0" "2969" "0" "c.2968_2969delinsCT" "r.(?)" "p.(Ala990Leu)" "12" "" "0000671667" "00023950" "90" "2969" "0" "2970" "0" "c.2969_2970dup" "r.(?)" "p.(Val991Argfs*7)" "12" "" "0000671668" "00023950" "90" "2971" "0" "2971" "0" "c.2971del" "r.(?)" "p.(Val991Serfs*6)" "12" "" "0000671669" "00023950" "50" "2972" "0" "2972" "0" "c.2972T>G" "r.(?)" "p.(Val991Gly)" "12" "" "0000671670" "00023950" "50" "2985" "3" "2985" "6" "c.2985+3_2985+6dup" "r.(?)" "p.(=)" "12i" "" "0000671671" "00023950" "90" "2985" "1" "2985" "1" "c.2985+1G>A" "r.spl" "p.?" "12i" "" "0000671672" "00023950" "90" "2985" "2" "2985" "2" "c.2985+2T>A" "r.spl" "p.?" "12i" "" "0000671673" "00023950" "30" "2985" "4" "2985" "4" "c.2985+4G>A" "r.spl?" "p.(=)" "12i" "" "0000671674" "00023950" "50" "2985" "5" "2985" "5" "c.2985+5G>A" "r.spl?" "p.(=)" "12i" "" "0000671675" "00023950" "30" "2985" "27" "2985" "31" "c.2985+27_2985+31dup" "r.(?)" "p.(=)" "12i" "" "0000671676" "00023950" "30" "2986" "-40" "2986" "-40" "c.2986-40C>T" "r.(?)" "p.(=)" "12i" "" "0000671677" "00023950" "30" "2986" "-15" "2986" "-15" "c.2986-15C>T" "r.(?)" "p.(=)" "12i" "" "0000671678" "00023950" "30" "3003" "0" "3003" "0" "c.3003C>T" "r.(?)" "p.(=)" "13" "" "0000671679" "00023950" "30" "3006" "0" "3006" "0" "c.3006G>C" "r.(?)" "p.(=)" "13" "" "0000671680" "00023950" "90" "3009" "0" "3012" "0" "c.3009_3012del" "r.(?)" "p.(Ser1003Argfs*4)" "13" "" "0000671681" "00023950" "30" "3015" "0" "3015" "0" "c.3015C>T" "r.(?)" "p.(=)" "13" "" "0000671682" "00023950" "90" "3024" "0" "3025" "0" "c.3024_3025ins18" "r.(?)" "p.?" "13" "" "0000671683" "00023950" "70" "3025" "0" "3027" "0" "c.3025_3027del" "r.(?)" "p.(Tyr1009del)" "13" "" "0000671684" "00023950" "30" "3051" "0" "3051" "0" "c.3051C>T" "r.(?)" "p.(=)" "13" "" "0000671685" "00023950" "90" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Gln1020*)" "13" "" "0000671686" "00023950" "30" "3063" "0" "3063" "0" "c.3063T>C" "r.(?)" "p.(=)" "13" "" "0000671687" "00023950" "30" "3068" "0" "3068" "0" "c.3068A>G" "r.(?)" "p.(Gln1023Arg)" "13" "" "0000671688" "00023950" "30" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(=)" "13" "" "0000671689" "00023950" "30" "3084" "0" "3084" "0" "c.3084G>A" "r.(?)" "p.(=)" "13" "" "0000671690" "00023950" "90" "3099" "0" "3099" "0" "c.3099del" "r.(?)" "p.(Asn1034Metfs*4)" "13" "" "0000671691" "00023950" "90" "3099" "0" "3099" "0" "c.3099dup" "r.(?)" "p.(Asn1034Glnfs*67)" "13" "" "0000671692" "00023950" "30" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(Asn1034Ile)" "13" "" "0000671693" "00023950" "30" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(Asn1034Ser)" "13" "" "0000671694" "00023950" "30" "3108" "0" "3108" "0" "c.3108G>T" "r.(?)" "p.(=)" "13" "" "0000671695" "00023950" "30" "3111" "0" "3111" "0" "c.3111A>G" "r.(?)" "p.(=)" "13" "" "0000671696" "00023950" "30" "3113" "0" "3113" "0" "c.3113C>A" "r.(?)" "p.(Ala1038Glu)" "13" "" "0000671697" "00023950" "30" "3114" "0" "3114" "0" "c.3114A>G" "r.(?)" "p.(=)" "13" "" "0000671698" "00023950" "70" "3122" "0" "3124" "0" "c.3122_3124del" "r.(?)" "p.(Ala1041del)" "13" "" "0000671699" "00023950" "90" "3125" "0" "3125" "0" "c.3125del" "r.(?)" "p.(Gly1042Alafs*62)" "13" "" "0000671700" "00023950" "50" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Val1045Met)" "13" "" "0000671701" "00023950" "30" "3140" "0" "3140" "0" "c.3140C>T" "r.(?)" "p.(Ser1047Leu)" "13" "" "0000671702" "00023950" "50" "3161" "0" "3161" "0" "c.3161T>C" "r.(?)" "p.(Leu1054Pro)" "13" "" "0000671703" "00023950" "30" "3162" "-18" "3162" "-18" "c.3162-18G>C" "r.(?)" "p.(=)" "13i" "" "0000671704" "00023950" "90" "3162" "-2" "3162" "-2" "c.3162-2A>G" "r.spl" "p.?" "13i" "" "0000671705" "00023950" "90" "3162" "-2" "3162" "-2" "c.3162-2A>T" "r.spl" "p.?" "13i" "" "0000671706" "00023950" "70" "3175" "0" "3175" "0" "c.3175G>A" "r.(?)" "p.(Asp1059Asn)" "14" "" "0000671707" "00023950" "30" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(=)" "14" "" "0000671708" "00023950" "90" "3184" "0" "3184" "0" "c.3184C>T" "r.(?)" "p.(Gln1062*)" "14" "" "0000671709" "00023950" "90" "3194" "0" "3209" "0" "c.3194_3209del" "r.(?)" "p.(His1065Argfs*34)" "14" "" "0000671710" "00023950" "90" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Gln1066*)" "14" "" "0000671711" "00023950" "90" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Gln1068*)" "14" "" "0000671712" "00023950" "90" "3207" "0" "3207" "0" "c.3207dup" "r.(?)" "p.(Pro1070Serfs*31)" "14" "" "0000671713" "00023950" "90" "3212" "0" "3245" "0" "c.3212_3245del" "r.(?)" "p.(Tyr1071Trpfs*22)" "14" "" "0000671714" "00023950" "90" "3213" "0" "3213" "0" "c.3213C>G" "r.(?)" "p.(Tyr1071*)" "14" "" "0000671715" "00023950" "90" "3215" "0" "3215" "0" "c.3215dup" "r.(?)" "p.(Asn1072Lysfs*29)" "14" "" "0000671716" "00023950" "30" "3228" "0" "3228" "0" "c.3228G>A" "r.(?)" "p.(=)" "14" "" "0000671717" "00023950" "90" "3242" "0" "3242" "0" "c.3242dup" "r.(?)" "p.(Val1082Glyfs*19)" "14" "" "0000671718" "00023950" "90" "3242" "0" "3242" "0" "c.3242C>A" "r.(?)" "p.(Ser1081*)" "14" "" "0000671719" "00023950" "90" "3250" "0" "3250" "0" "c.3250C>T" "r.(?)" "p.(Gln1084*)" "14" "" "0000671720" "00023950" "90" "3257" "0" "3257" "0" "c.3257dup" "r.(?)" "p.(Val1087Glyfs*14)" "14" "" "0000671721" "00023950" "70" "3260" "0" "3260" "0" "c.3260T>G" "r.(?)" "p.(Val1087Gly)" "14" "" "0000671722" "00023950" "90" "3272" "0" "3289" "0" "c.3272_3289del" "r.(?)" "p.(Val1091_Ala1096del)" "14" "" "0000671723" "00023950" "30" "3275" "0" "3275" "0" "c.3275T>C" "r.(?)" "p.(Met1092Thr)" "14" "" "0000671724" "00023950" "50" "3277" "0" "3277" "0" "c.3277C>G" "r.(?)" "p.(His1093Asp)" "14" "" "0000671725" "00023950" "30" "3277" "0" "3277" "0" "c.3277C>T" "r.(?)" "p.(His1093Tyr)" "14" "" "0000671726" "00023950" "90" "3285" "0" "3285" "0" "c.3285C>G" "r.(?)" "p.(Tyr1095*)" "14" "" "0000671727" "00023950" "90" "3295" "1" "3295" "1" "c.3295+1G>A" "r.spl" "p.?" "14i" "" "0000671728" "00023950" "90" "3295" "1" "3295" "1" "c.3295+1G>C" "r.spl" "p.?" "14i" "" "0000671729" "00023950" "30" "3295" "3" "3295" "3" "c.3295+3G>T" "r.spl?" "p.(=)" "14i" "" "0000671730" "00023950" "30" "3295" "53" "3295" "53" "c.3295+53G>T" "r.(?)" "p.(=)" "14i" "" "0000671731" "00023950" "30" "3296" "-15" "3296" "-15" "c.3296-15G>A" "r.(?)" "p.(=)" "14i" "" "0000671732" "00023950" "70" "3296" "-3" "3296" "-3" "c.3296-3C>G" "r.spl?" "p.?" "14i" "" "0000671733" "00023950" "90" "3296" "-2" "3296" "-2" "c.3296-2A>C" "r.spl" "p.?" "14i" "" "0000671734" "00023950" "90" "3296" "-1" "3296" "-1" "c.3296-1G>A" "r.spl" "p.?" "14i" "" "0000671735" "00023950" "90" "3296" "-1" "8016" "1" "c.(3295+1_3296-1)_(8016+1_8017-1)del" "r.spl" "p.?" "15_21i" "" "0000671736" "00023950" "30" "3304" "0" "3304" "0" "c.3304C>G" "r.(?)" "p.(Leu1102Val)" "15" "" "0000671737" "00023950" "90" "3315" "0" "3324" "0" "c.3315_3324del" "r.(?)" "p.(Leu1106Metfs*6)" "15" "" "0000671738" "00023950" "30" "3316" "0" "3316" "0" "c.3316C>G" "r.(?)" "p.(Leu1106Val)" "15" "" "0000671739" "00023950" "70" "3349" "0" "3351" "0" "c.3349_3351del" "r.(?)" "p.(Gln1117del)" "15" "" "0000671740" "00023950" "90" "3349" "0" "3349" "0" "c.3349C>T" "r.(?)" "p.(Gln1117*)" "15" "" "0000671741" "00023950" "90" "3356" "0" "3357" "0" "c.3356_3357insA" "r.(?)" "p.(Val1120Cysfs*16)" "15" "" "0000671742" "00023950" "90" "3359" "0" "3360" "0" "c.3359_3360del" "r.(?)" "p.(Val1120Glufs*15)" "15" "" "0000671743" "00023950" "30" "3372" "0" "3372" "0" "c.3372C>T" "r.(?)" "p.(=)" "15" "" "0000671744" "00023950" "30" "3375" "0" "3375" "0" "c.3375C>T" "r.(?)" "p.(=)" "15" "" "0000671745" "00023950" "30" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Pro1127Leu)" "15" "" "0000671746" "00023950" "30" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(=)" "15" "" "0000671747" "00023950" "30" "3406" "0" "3406" "0" "c.3406G>T" "r.(?)" "p.(Gly1136Cys)" "15" "" "0000671748" "00023950" "30" "3424" "0" "3424" "0" "c.3424C>T" "r.(?)" "p.(Arg1142Trp)" "15" "" "0000671749" "00023950" "90" "3425" "0" "3428" "0" "c.3425_3428del" "r.(?)" "p.(Arg1142Profs*28)" "15" "" "0000671750" "00023950" "30" "3425" "0" "3425" "0" "c.3425G>A" "r.(?)" "p.(Arg1142Gln)" "15" "" "0000671751" "00023950" "90" "3428" "0" "3429" "0" "c.3428_3429ins4" "r.(?)" "p.(Pro1143fs68*)" "15" "" "0000671752" "00023950" "30" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "15" "" "0000671753" "00023950" "90" "3441" "0" "3441" "0" "c.3441C>G" "r.(?)" "p.(Tyr1147*)" "15" "" "0000671754" "00023950" "30" "3444" "0" "3444" "0" "c.3444G>A" "r.(?)" "p.(=)" "15" "" "0000671755" "00023950" "30" "3467" "0" "3467" "0" "c.3467G>C" "r.(?)" "p.(Gly1156Ala)" "15" "" "0000671756" "00023950" "90" "3477" "0" "3477" "0" "c.3477C>G" "r.(?)" "p.(Tyr1159*)" "15" "" "0000671757" "00023950" "30" "3480" "0" "3480" "0" "c.3480G>A" "r.(?)" "p.(=)" "15" "" "0000671758" "00023950" "30" "3480" "0" "3480" "0" "c.3480G>T" "r.(?)" "p.(=)" "15" "" "0000671759" "00023950" "90" "3483" "0" "3483" "0" "c.3483G>A" "r.(?)" "p.(Trp1161*)" "15" "" "0000671760" "00023950" "30" "3489" "0" "3489" "0" "c.3489C>T" "r.(?)" "p.(=)" "15" "" "0000671761" "00023950" "90" "3493" "0" "3493" "0" "c.3493del" "r.(?)" "p.(Asp1165Thrfs*6)" "15" "" "0000671762" "00023950" "70" "3494" "0" "3494" "0" "c.3494A>G" "r.(?)" "p.(Asp1165Gly)" "15" "" "0000671763" "00023950" "70" "3496" "0" "3496" "0" "c.3496G>A" "r.(?)" "p.(Gly1166Ser)" "15" "" "0000671764" "00023950" "30" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Pro1168Ser)" "15" "" "0000671765" "00023950" "90" "3503" "0" "3504" "0" "c.3503_3504del" "r.(?)" "p.(Pro1168Argfs*42)" "15" "" "0000671766" "00023950" "30" "3513" "0" "3513" "0" "c.3513C>G" "r.(?)" "p.(=)" "15" "" "0000671767" "00023950" "90" "3514" "0" "3514" "0" "c.3514C>T" "r.(?)" "p.(Gln1172*)" "15" "" "0000671768" "00023950" "90" "3538" "0" "3564" "0" "c.3538_3564del" "r.(?)" "p.(Thr1180_His1188del)" "15" "" "0000671769" "00023950" "90" "3538" "0" "3539" "0" "c.3538_3539dup" "r.(?)" "p.(Tyr1181Profs*18)" "15" "" "0000671770" "00023950" "30" "3545" "0" "3545" "0" "c.3545C>T" "r.(?)" "p.(Ala1182Val)" "15" "" "0000671771" "00023950" "30" "3552" "0" "3552" "0" "c.3552G>A" "r.(?)" "p.(=)" "15" "" "0000671772" "00023950" "90" "3561" "0" "3561" "0" "c.3561C>A" "r.(?)" "p.(Tyr1187*)" "15" "" "0000671773" "00023950" "90" "3594" "0" "3600" "0" "c.3594_3600del" "r.(?)" "p.(Ser1198Argfs*20)" "15" "" "0000671774" "00023950" "30" "3600" "0" "3600" "0" "c.3600G>A" "r.(?)" "p.(=)" "15" "" "0000671775" "00023950" "30" "3611" "0" "3611" "0" "c.3611C>A" "r.(?)" "p.(Ala1204Glu)" "15" "" "0000671776" "00023950" "30" "3611" "0" "3611" "0" "c.3611C>T" "r.(?)" "p.(Ala1204Val)" "15" "" "0000671777" "00023950" "70" "3617" "0" "3617" "0" "c.3617T>G" "r.(?)" "p.(Val1206Gly)" "15" "" "0000671778" "00023950" "90" "3623" "0" "3624" "0" "c.3623_3624insGTGT" "r.(?)" "p.(Phe1209Cysfs*3)" "15" "" "0000671779" "00023950" "90" "3624" "0" "3645" "0" "c.3624_3645delinsT" "r.(?)" "p.(Phe1209_Leu1215del)" "15" "" "0000671780" "00023950" "90" "3628" "0" "3628" "0" "c.3628G>T" "r.(?)" "p.(Glu1210*)" "15" "" "0000671781" "00023950" "90" "3640" "0" "3640" "0" "c.3640G>T" "r.(?)" "p.(Gly1214*)" "15" "" "0000671782" "00023950" "70" "3644" "0" "3644" "0" "c.3644T>C" "r.(?)" "p.(Leu1215Pro)" "15" "" "0000671783" "00023950" "30" "3679" "0" "3679" "0" "c.3679G>T" "r.(?)" "p.(Ala1227Ser)" "15" "" "0000671784" "00023950" "90" "3684" "0" "3684" "0" "c.3684del" "r.(?)" "p.(Val1229Trpfs*44)" "15" "" "0000671785" "00023950" "90" "3684" "0" "3684" "0" "c.3684dup" "r.(?)" "p.(Val1229Argfs*72)" "15" "" "0000671786" "00023950" "90" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Gln1236*)" "15" "" "0000671787" "00023950" "70" "3719" "0" "3721" "0" "c.3719_3721del" "r.(?)" "p.(Asn1240del)" "15" "" "0000671788" "00023950" "50" "3719" "0" "3719" "0" "c.3719A>T" "r.(?)" "p.(Asn1240Ile)" "15" "" "0000671789" "00023950" "70" "3722" "0" "3722" "0" "c.3722T>A" "r.(?)" "p.(Ile1241Asn)" "15" "" "0000671790" "00023950" "50" "3722" "0" "3722" "0" "c.3722T>C" "r.(?)" "p.(Ile1241Thr)" "15" "" "0000671791" "00023950" "70" "3725" "0" "3725" "0" "c.3725C>T" "r.(?)" "p.(Thr1242Met)" "15" "" "0000671792" "00023950" "90" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Trp1243*)" "15" "" "0000671793" "00023950" "50" "3761" "0" "3761" "0" "c.3761C>T" "r.(?)" "p.(Ser1254Leu)" "15" "" "0000671794" "00023950" "90" "3784" "0" "3784" "0" "c.3784dup" "r.(?)" "p.(His1262Profs*39)" "15" "" "0000671795" "00023950" "30" "3785" "0" "3785" "0" "c.3785A>G" "r.(?)" "p.(His1262Arg)" "15" "" "0000671796" "00023950" "90" "3792" "0" "3792" "0" "c.3792C>A" "r.(?)" "p.(Tyr1264*)" "15" "" "0000671797" "00023950" "90" "3814" "0" "3814" "0" "c.3814del" "r.(?)" "p.(Val1272*)" "15" "" "0000671798" "00023950" "90" "3815" "0" "4890" "0" "c.3815_4890del" "r.(?)" "p.(Val1272Alafs*27)" "15" "" "0000671799" "00023950" "50" "3820" "0" "3820" "0" "c.3820G>A" "r.(?)" "p.(Val1274Met)" "15" "" "0000671800" "00023950" "90" "3824" "0" "3824" "0" "c.3824del" "r.(?)" "p.(Gly1275Valfs*71)" "15" "" "0000671801" "00023950" "70" "3834" "0" "3834" "0" "c.3834C>A" "r.(?)" "p.(Ser1278Arg)" "15" "" "0000671802" "00023950" "90" "3860" "0" "3860" "0" "c.3860del" "r.(?)" "p.(Leu1287Argfs*59)" "15" "" "0000671803" "00023950" "30" "3864" "0" "3864" "0" "c.3864C>T" "r.(?)" "p.(=)" "15" "" "0000671804" "00023950" "70" "3866" "0" "3866" "0" "c.3866T>A" "r.(?)" "p.(Val1289Glu)" "15" "" "0000671805" "00023950" "30" "3868" "0" "3868" "0" "c.3868C>G" "r.(?)" "p.(Leu1290Val)" "15" "" "0000671806" "00023950" "50" "3876" "0" "3876" "0" "c.3876C>A" "r.(?)" "p.(Phe1292Leu)" "15" "" "0000671807" "00023950" "90" "3880" "0" "3880" "0" "c.3880del" "r.(?)" "p.(Leu1294Trpfs*52)" "15" "" "0000671808" "00023950" "90" "3898" "0" "3898" "0" "c.3898G>T" "r.(?)" "p.(Glu1300*)" "15" "" "0000671809" "00023950" "50" "3901" "0" "3901" "0" "c.3901C>G" "r.(?)" "p.(Pro1301Ala)" "15" "" "0000671810" "00023950" "90" "3907" "0" "3908" "0" "c.3907_3908del" "r.(?)" "p.(Ala1303Leufs*7)" "15" "" "0000671811" "00023950" "90" "3915" "0" "3918" "0" "c.3915_3918del" "r.(?)" "p.(Pro1306Argfs*39)" "15" "" "0000671812" "00023950" "90" "3926" "0" "3927" "0" "c.3926_3927del" "r.(?)" "p.(Pro1309Argfs*121)" "15" "" "0000671813" "00023950" "30" "3930" "0" "3930" "0" "c.3930C>T" "r.(?)" "p.(=)" "15" "" "0000671814" "00023950" "30" "3931" "0" "3931" "0" "c.3931G>A" "r.(?)" "p.(Ala1311Thr)" "15" "" "0000671815" "00023950" "30" "3935" "0" "3935" "0" "c.3935G>A" "r.(?)" "p.(Arg1312Gln)" "15" "" "0000671816" "00023950" "50" "3940" "0" "3940" "0" "c.3940A>C" "r.(?)" "p.(Thr1314Pro)" "15" "" "0000671817" "00023950" "90" "3942" "0" "3969" "0" "c.3942_3969del" "r.(?)" "p.(Ala1315Thrfs*22)" "15" "" "0000671818" "00023950" "90" "3958" "0" "3959" "0" "c.3958_3959insG" "r.(?)" "p.(Asn1320Argfs*111)" "15" "" "0000671819" "00023950" "70" "3982" "0" "3982" "0" "c.3982T>C" "r.(?)" "p.(Trp1328Arg)" "15" "" "0000671820" "00023950" "90" "3984" "0" "3984" "0" "c.3984G>A" "r.(?)" "p.(Trp1328*)" "15" "" "0000671821" "00023950" "30" "3990" "0" "3990" "0" "c.3990C>T" "r.(?)" "p.(=)" "15" "" "0000671822" "00023950" "90" "3957" "0" "3994" "0" "c.3957_3994dup" "r.(?)" "p.(Asp1332Glyfs*27)" "15" "" "0000671823" "00023950" "30" "3994" "0" "3994" "0" "c.3994G>A" "r.(?)" "p.(Asp1332Asn)" "15" "" "0000671824" "00023950" "30" "4014" "0" "4014" "0" "c.4014C>T" "r.(?)" "p.(=)" "15" "" "0000671825" "00023950" "30" "4015" "0" "4015" "0" "c.4015G>A" "r.(?)" "p.(Val1339Met)" "15" "" "0000671826" "00023950" "30" "4018" "0" "4018" "0" "c.4018C>T" "r.(?)" "p.(Arg1340Trp)" "15" "" "0000671827" "00023950" "30" "4019" "0" "4019" "0" "c.4019G>A" "r.(?)" "p.(Arg1340Gln)" "15" "" "0000671828" "00023950" "90" "4041" "0" "4042" "0" "c.4041_4042del" "r.(?)" "p.(His1347Glnfs*83)" "15" "" "0000671829" "00023950" "50" "4049" "0" "4049" "0" "c.4049C>T" "r.(?)" "p.(Thr1350Met)" "15" "" "0000671830" "00023950" "90" "4051" "0" "4052" "0" "c.4051_4052del" "r.(?)" "p.(Arg1351Glufs*79)" "15" "" "0000671831" "00023950" "30" "4051" "0" "4051" "0" "c.4051C>T" "r.(?)" "p.(Arg1351Trp)" "15" "" "0000671832" "00023950" "30" "4053" "0" "4053" "0" "c.4053G>T" "r.(?)" "p.(=)" "15" "" "0000671833" "00023950" "90" "4055" "0" "4055" "0" "c.4055dup" "r.(?)" "p.(Ser1352Argfs*79)" "15" "" "0000671834" "00023950" "50" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Ser1352Asn)" "15" "" "0000671835" "00023950" "90" "4069" "0" "4069" "0" "c.4069del" "r.(?)" "p.(Leu1357Trpfs*9)" "15" "" "0000671836" "00023950" "90" "4070" "0" "4070" "0" "c.4070del" "r.(?)" "p.(Leu1357Argfs*9)" "15" "" "0000671837" "00023950" "70" "4070" "0" "4070" "0" "c.4070T>C" "r.(?)" "p.(Leu1357Pro)" "15" "" "0000671838" "00023950" "30" "4071" "0" "4071" "0" "c.4071G>T" "r.(?)" "p.(=)" "15" "" "0000671839" "00023950" "90" "4080" "0" "4080" "0" "c.4080del" "r.(?)" "p.(Leu1361Cysfs*5)" "15" "" "0000671840" "00023950" "70" "4084" "0" "4084" "0" "c.4084T>C" "r.(?)" "p.(Ser1362Pro)" "15" "" "0000671841" "00023950" "30" "4092" "0" "4092" "0" "c.4092C>T" "r.(?)" "p.(=)" "15" "" "0000671842" "00023950" "90" "4099" "0" "4100" "0" "c.4099_4100del" "r.(?)" "p.(Arg1367Glyfs*63)" "15" "" "0000671843" "00023950" "50" "4103" "0" "4103" "0" "c.4103C>T" "r.(?)" "p.(Ala1368Val)" "15" "" "0000671844" "00023950" "90" "4109" "0" "4120" "0" "c.4109_4120delinsG" "r.(?)" "p.(Tyr1370Cysfs*57)" "15" "" "0000671845" "00023950" "30" "4110" "0" "4110" "0" "c.4110C>T" "r.(?)" "p.(=)" "15" "" "0000671846" "00023950" "90" "4110" "0" "4113" "0" "c.4110_4113del" "r.(?)" "p.(Tyr1370*)" "15" "" "0000671847" "00023950" "30" "4119" "0" "4119" "0" "c.4119C>T" "r.(?)" "p.(=)" "15" "" "0000671848" "00023950" "30" "4120" "0" "4120" "0" "c.4120A>T" "r.(?)" "p.(Ile1374Phe)" "15" "" "0000671849" "00023950" "70" "4124" "0" "4124" "0" "c.4124G>A" "r.(?)" "p.(Cys1375Tyr)" "15" "" "0000671850" "00023950" "50" "4126" "0" "4126" "0" "c.4126G>A" "r.(?)" "p.(Val1376Met)" "15" "" "0000671851" "00023950" "90" "4135" "0" "4135" "0" "c.4135G>T" "r.(?)" "p.(Glu1379*)" "15" "" "0000671852" "00023950" "70" "4148" "0" "4148" "0" "c.4148T>A" "r.(?)" "p.(Val1383Asp)" "15" "" "0000671853" "00023950" "50" "4163" "0" "4163" "0" "c.4163A>G" "r.(?)" "p.(Glu1388Gly)" "15" "" "0000671854" "00023950" "30" "4164" "0" "4164" "0" "c.4164G>A" "r.(?)" "p.(=)" "15" "" "0000671855" "00023950" "30" "4180" "0" "4180" "0" "c.4180C>G" "r.(?)" "p.(Leu1394Val)" "15" "" "0000671856" "00023950" "70" "4183" "0" "4183" "0" "c.4183G>A" "r.(?)" "p.(Gly1395Arg)" "15" "" "0000671857" "00023950" "30" "4195" "0" "4195" "0" "c.4195T>C" "r.(?)" "p.(Trp1399Arg)" "15" "" "0000671858" "00023950" "90" "4198" "0" "4201" "0" "c.4198_4201del" "r.(?)" "p.(Leu1400Trpfs*31)" "15" "" "0000671859" "00023950" "90" "4199" "0" "4199" "0" "c.4199del" "r.(?)" "p.(Leu1400Argfs*32)" "15" "" "0000671860" "00023950" "30" "4210" "0" "4210" "0" "c.4210G>C" "r.(?)" "p.(Ala1404Pro)" "15" "" "0000671861" "00023950" "90" "4214" "0" "4214" "0" "c.4214G>A" "r.(?)" "p.(Trp1405*)" "15" "" "0000671862" "00023950" "90" "4220" "0" "4220" "0" "c.4220dup" "r.(?)" "p.(Phe1408Valfs*23)" "15" "" "0000671863" "00023950" "50" "4231" "0" "4231" "0" "c.4231C>T" "r.(?)" "p.(Arg1411Cys)" "15" "" "0000671864" "00023950" "70" "4234" "0" "4234" "0" "c.4234T>G" "r.(?)" "p.(Tyr1412Asp)" "15" "" "0000671865" "00023950" "90" "4247" "0" "4248" "0" "c.4247_4248del" "r.(?)" "p.(Phe1416Trpfs*14)" "15" "" "0000671866" "00023950" "90" "4255" "0" "4273" "0" "c.4255_4273delinsTGAG" "r.(?)" "p.(Glu1419*)" "15" "" "0000671867" "00023950" "30" "4263" "0" "4263" "0" "c.4263C>T" "r.(?)" "p.(=)" "15" "" "0000671868" "00023950" "30" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Ala1422Thr)" "15" "" "0000671869" "00023950" "90" "4279" "0" "4279" "0" "c.4279del" "r.(?)" "p.(Arg1427Glyfs*5)" "15" "" "0000671870" "00023950" "90" "4297" "0" "4298" "0" "c.4297_4298insCACGT" "r.(?)" "p.(Phe1433Serfs*13)" "15" "" "0000671871" "00023950" "30" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(=)" "15" "" "0000671872" "00023950" "90" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436*)" "15" "" "0000671873" "00023950" "90" "4331" "0" "4332" "0" "c.4331_4332del" "r.(?)" "p.(Thr1444Serfs*12)" "15" "" "0000671874" "00023950" "30" "4335" "0" "4335" "0" "c.4335C>A" "r.(?)" "p.(=)" "15" "" "0000671875" "00023950" "30" "4340" "0" "4340" "0" "c.4340C>T" "r.(?)" "p.(Ala1447Val)" "15" "" "0000671876" "00023950" "70" "4349" "0" "4351" "0" "c.4349_4351del" "r.(?)" "p.(Asn1450del)" "15" "" "0000671877" "00023950" "30" "4356" "0" "4356" "0" "c.4356T>C" "r.(?)" "p.(=)" "15" "" "0000671878" "00023950" "90" "4369" "0" "4370" "0" "c.4369_4370del" "r.(?)" "p.(Ala1458Profs*64)" "15" "" "0000671879" "00023950" "90" "4370" "0" "4370" "0" "c.4370C>G" "r.(?)" "p.(Ser1457*)" "15" "" "0000671880" "00023950" "70" "4379" "0" "4379" "0" "c.4379T>G" "r.(?)" "p.(Val1460Gly)" "15" "" "0000671881" "00023950" "90" "4387" "0" "4387" "0" "c.4387C>T" "r.(?)" "p.(Gln1463*)" "15" "" "0000671882" "00023950" "50" "4439" "0" "4439" "0" "c.4439A>G" "r.(?)" "p.(Glu1480Gly)" "15" "" "0000671883" "00023950" "30" "4441" "0" "4441" "0" "c.4441C>A" "r.(?)" "p.(Leu1481Met)" "15" "" "0000671884" "00023950" "90" "4442" "0" "4442" "0" "c.4442dup" "r.(?)" "p.(Gln1482Alafs*41)" "15" "" "0000671885" "00023950" "90" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Gln1482*)" "15" "" "0000671886" "00023950" "90" "4447" "0" "4447" "0" "c.4447C>T" "r.(?)" "p.(Gln1483*)" "15" "" "0000671887" "00023950" "30" "4452" "0" "4452" "0" "c.4452G>A" "r.(?)" "p.(=)" "15" "" "0000671888" "00023950" "90" "4455" "0" "4455" "0" "c.4455C>G" "r.(?)" "p.(Tyr1485*)" "15" "" "0000671889" "00023950" "90" "4460" "0" "4461" "0" "c.4460_4461insA" "r.(?)" "p.(Phe1487Leufs*36)" "15" "" "0000671890" "00023950" "30" "4495" "0" "4495" "0" "c.4495C>T" "r.(?)" "p.(=)" "15" "" "0000671891" "00023950" "90" "4499" "0" "4499" "0" "c.4499G>A" "r.(?)" "p.(Trp1500*)" "15" "" "0000671892" "00023950" "70" "4507" "0" "4507" "0" "c.4507G>A" "r.(?)" "p.(Gly1503Arg)" "15" "" "0000671893" "00023950" "70" "4507" "0" "4507" "0" "c.4507G>C" "r.(?)" "p.(Gly1503Arg)" "15" "" "0000671894" "00023950" "30" "4509" "0" "4509" "0" "c.4509G>T" "r.(?)" "p.(=)" "15" "" "0000671895" "00023950" "90" "4521" "0" "4521" "0" "c.4521G>A" "r.(?)" "p.(Trp1507*)" "15" "" "0000671896" "00023950" "30" "4524" "0" "4524" "0" "c.4524C>T" "r.(?)" "p.(=)" "15" "" "0000671897" "00023950" "30" "4533" "0" "4533" "0" "c.4533G>A" "r.(?)" "p.(=)" "15" "" "0000671898" "00023950" "70" "4544" "0" "4544" "0" "c.4544A>C" "r.(?)" "p.(His1515Pro)" "15" "" "0000671899" "00023950" "30" "4546" "0" "4546" "0" "c.4546G>A" "r.(?)" "p.(Ala1516Thr)" "15" "" "0000671900" "00023950" "70" "4549" "0" "4549" "0" "c.4549T>G" "r.(?)" "p.(Tyr1517Asp)" "15" "" "0000671901" "00023950" "70" "4550" "0" "4550" "0" "c.4550A>G" "r.(?)" "p.(Tyr1517Cys)" "15" "" "0000671902" "00023950" "90" "4551" "0" "4551" "0" "c.4551C>G" "r.(?)" "p.(Tyr1517*)" "15" "" "0000671903" "00023950" "30" "4563" "0" "4563" "0" "c.4563T>C" "r.(?)" "p.(=)" "15" "" "0000671904" "00023950" "90" "4573" "0" "4573" "0" "c.4573del" "r.(?)" "p.(Val1525Leufs*9)" "15" "" "0000671905" "00023950" "70" "4574" "0" "4574" "0" "c.4574T>G" "r.(?)" "p.(Val1525Gly)" "15" "" "0000671906" "00023950" "30" "4587" "0" "4587" "0" "c.4587C>A" "r.(?)" "p.(=)" "15" "" "0000671907" "00023950" "90" "4593" "0" "4844" "0" "c.4593_4844del" "r.(?)" "p.(Ser1534_Val1617del)" "15" "" "0000671908" "00023950" "90" "4609" "0" "4609" "0" "c.4609G>T" "r.(?)" "p.(Glu1537*)" "15" "" "0000671909" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539*)" "15" "" "0000671910" "00023950" "30" "4629" "0" "4629" "0" "c.4629G>A" "r.(?)" "p.(=)" "15" "" "0000671911" "00023950" "30" "4635" "0" "4635" "0" "c.4635G>A" "r.(?)" "p.(=)" "15" "" "0000671912" "00023950" "50" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Trp)" "15" "" "0000671913" "00023950" "30" "4641" "0" "4641" "0" "c.4641C>T" "r.(?)" "p.(=)" "15" "" "0000671914" "00023950" "30" "4665" "0" "4665" "0" "c.4665A>C" "r.(?)" "p.(=)" "15" "" "0000671915" "00023950" "30" "4669" "0" "4669" "0" "c.4669C>T" "r.(?)" "p.(Arg1557Cys)" "15" "" "0000671916" "00023950" "30" "4674" "0" "4674" "0" "c.4674G>A" "r.(?)" "p.(=)" "15" "" "0000671917" "00023950" "30" "4684" "0" "4684" "0" "c.4684C>T" "r.(?)" "p.(=)" "15" "" "0000671918" "00023950" "90" "4689" "0" "4690" "0" "c.4689_4690del" "r.(?)" "p.(Asn1563Lysfs*14)" "15" "" "0000671919" "00023950" "50" "4709" "0" "4709" "0" "c.4709C>T" "r.(?)" "p.(Thr1570Met)" "15" "" "0000671920" "00023950" "30" "4710" "0" "4710" "0" "c.4710G>C" "r.(?)" "p.(=)" "15" "" "0000671921" "00023950" "90" "4746" "0" "4746" "0" "c.4746G>A" "r.(?)" "p.(Trp1582*)" "15" "" "0000671922" "00023950" "30" "4789" "0" "4789" "0" "c.4789A>G" "r.(?)" "p.(Ile1597Val)" "15" "" "0000671923" "00023950" "90" "4795" "0" "4802" "0" "c.4795_4802dup" "r.(?)" "p.(Arg1602Thrfs*34)" "15" "" "0000671924" "00023950" "90" "4797" "0" "4797" "0" "c.4797C>G" "r.(?)" "p.(Tyr1599*)" "15" "" "0000671925" "00023950" "30" "4809" "0" "4809" "0" "c.4809C>T" "r.(?)" "p.(=)" "15" "" "0000671926" "00023950" "30" "4810" "0" "4810" "0" "c.4810G>A" "r.(?)" "p.(Val1604Met)" "15" "" "0000671927" "00023950" "50" "4817" "0" "4817" "0" "c.4817C>G" "r.(?)" "p.(Thr1606Ser)" "15" "" "0000671928" "00023950" "70" "4828" "0" "4830" "0" "c.4828_4830del" "r.(?)" "p.(Ile1610del)" "15" "" "0000671929" "00023950" "30" "4830" "0" "4830" "0" "c.4830C>A" "r.(?)" "p.(=)" "15" "" "0000671930" "00023950" "90" "4830" "0" "4830" "0" "c.4830dup" "r.(?)" "p.(Val1611Argfs*4)" "15" "" "0000671931" "00023950" "70" "4831" "0" "4831" "0" "c.4831G>A" "r.(?)" "p.(Val1611Ile)" "15" "" "0000671932" "00023950" "30" "4836" "0" "4836" "0" "c.4836G>A" "r.(?)" "p.(=)" "15" "" "0000671933" "00023950" "30" "4845" "0" "4845" "0" "c.4845C>T" "r.(?)" "p.(=)" "15" "" "0000671934" "00023950" "30" "4856" "0" "4856" "0" "c.4856C>T" "r.(?)" "p.(Ser1619Phe)" "15" "" "0000671935" "00023950" "90" "4861" "0" "4861" "0" "c.4861C>T" "r.(?)" "p.(Gln1621*)" "15" "" "0000671936" "00023950" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(=)" "15" "" "0000671937" "00023950" "30" "4876" "0" "4876" "0" "c.4876G>A" "r.(?)" "p.(Val1626Ile)" "15" "" "0000671938" "00023950" "30" "4878" "0" "4878" "0" "c.4878C>T" "r.(?)" "p.(=)" "15" "" "0000671939" "00023950" "90" "4879" "0" "4879" "0" "c.4879dup" "r.(?)" "p.(Tyr1627Leufs*31)" "15" "" "0000671940" "00023950" "90" "4880" "0" "4881" "0" "c.4880_4881del" "r.(?)" "p.(Tyr1627Cysfs*30)" "15" "" "0000671941" "00023950" "50" "4882" "0" "4882" "0" "c.4882G>C" "r.(?)" "p.(Val1628Leu)" "15" "" "0000671942" "00023950" "90" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Gln1630*)" "15" "" "0000671943" "00023950" "90" "4895" "0" "4896" "0" "c.4895_4896del" "r.(?)" "p.(Ile1632Argfs*25)" "15" "" "0000671944" "00023950" "90" "4895" "0" "4896" "0" "c.4895_4896del" "r.(?)" "p.(Ile1632Argfs*25)" "15" "" "0000671945" "00023950" "90" "4897" "0" "4898" "0" "c.4897_4898insT" "r.(?)" "p.(Glu1633Valfs*25)" "15" "" "0000671946" "00023950" "90" "4906" "0" "4906" "0" "c.4906C>T" "r.(?)" "p.(Gln1636*)" "15" "" "0000671947" "00023950" "30" "4914" "0" "4914" "0" "c.4914G>A" "r.(?)" "p.(=)" "15" "" "0000671948" "00023950" "30" "4917" "0" "4917" "0" "c.4917C>G" "r.(?)" "p.(=)" "15" "" "0000671949" "00023950" "30" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(=)" "15" "" "0000671950" "00023950" "90" "4935" "0" "4935" "0" "c.4935del" "r.(?)" "p.(Thr1646Profs*76)" "15" "" "0000671951" "00023950" "30" "4941" "0" "4941" "0" "c.4941C>T" "r.(?)" "p.(=)" "15" "" "0000671952" "00023950" "30" "4946" "0" "4946" "0" "c.4946C>T" "r.(?)" "p.(Thr1649Met)" "15" "" "0000671953" "00023950" "30" "4947" "0" "4947" "0" "c.4947G>A" "r.(?)" "p.(=)" "15" "" "0000671954" "00023950" "90" "4948" "0" "4948" "0" "c.4948del" "r.(?)" "p.(Val1650Tyrfs*72)" "15" "" "0000671955" "00023950" "90" "4951" "0" "4951" "0" "c.4951C>T" "r.(?)" "p.(Gln1651*)" "15" "" "0000671956" "00023950" "90" "4957" "0" "4957" "0" "c.4957C>T" "r.(?)" "p.(Gln1653*)" "15" "" "0000671957" "00023950" "30" "4963" "0" "4963" "0" "c.4963G>T" "r.(?)" "p.(Val1655Leu)" "15" "" "0000671958" "00023950" "50" "4999" "0" "4999" "0" "c.4999A>C" "r.(?)" "p.(Thr1667Pro)" "15" "" "0000671959" "00023950" "90" "4973" "0" "5006" "0" "c.4973_5006dup" "r.(?)" "p.(Trp1669*)" "15" "" "0000671960" "00023950" "90" "5014" "0" "5014" "0" "c.5014del" "r.(?)" "p.(Arg1672Glyfs*50)" "15" "" "0000671961" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672Glyfs*98)" "15" "" "0000671962" "00023950" "30" "5021" "0" "5021" "0" "c.5021C>T" "r.(?)" "p.(Pro1674Leu)" "15" "" "0000671963" "00023950" "30" "5032" "0" "5032" "0" "c.5032G>A" "r.(?)" "p.(Gly1678Ser)" "15" "" "0000671964" "00023950" "90" "5043" "0" "5043" "0" "c.5043del" "r.(?)" "p.(Gly1682Alafs*40)" "15" "" "0000671965" "00023950" "30" "5051" "0" "5051" "0" "c.5051C>T" "r.(?)" "p.(Ser1684Leu)" "15" "" "0000671966" "00023950" "30" "5064" "0" "5064" "0" "c.5064C>T" "r.(?)" "p.(=)" "15" "" "0000671967" "00023950" "30" "5070" "0" "5070" "0" "c.5070C>T" "r.(?)" "p.(=)" "15" "" "0000671968" "00023950" "90" "5079" "0" "5079" "0" "c.5079C>A" "r.(?)" "p.(Tyr1693*)" "15" "" "0000671969" "00023950" "90" "5080" "0" "5103" "0" "c.5080_5103del" "r.(?)" "p.(His1694_Asn1701del)" "15" "" "0000671970" "00023950" "30" "5081" "0" "5081" "0" "c.5081A>G" "r.(?)" "p.(His1694Arg)" "15" "" "0000671971" "00023950" "90" "5086" "0" "5086" "0" "c.5086C>T" "r.(?)" "p.(Gln1696*)" "15" "" "0000671972" "00023950" "50" "5092" "0" "5092" "0" "c.5092C>T" "r.(?)" "p.(Arg1698Trp)" "15" "" "0000671973" "00023950" "70" "5096" "0" "5096" "0" "c.5096C>A" "r.(?)" "p.(Ala1699Asp)" "15" "" "0000671974" "00023950" "70" "5101" "0" "5101" "0" "c.5101A>G" "r.(?)" "p.(Asn1701Asp)" "15" "" "0000671975" "00023950" "90" "5120" "0" "5120" "0" "c.5120G>A" "r.(?)" "p.(Trp1707*)" "15" "" "0000671976" "00023950" "90" "5124" "0" "5124" "0" "c.5124del" "r.(?)" "p.(Asp1709Thrfs*13)" "15" "" "0000671977" "00023950" "70" "5132" "0" "5132" "0" "c.5132C>T" "r.(?)" "p.(Thr1711Ile)" "15" "" "0000671978" "00023950" "90" "5141" "0" "5141" "0" "c.5141del" "r.(?)" "p.(Phe1714Serfs*8)" "15" "" "0000671979" "00023950" "90" "5146" "0" "5146" "0" "c.5146G>T" "r.(?)" "p.(Glu1716*)" "15" "" "0000671980" "00023950" "90" "5147" "0" "5157" "0" "c.5147_5157del" "r.(?)" "p.(Glu1716Valfs*51)" "15" "" "0000671981" "00023950" "90" "5154" "0" "5155" "0" "c.5154_5155insT" "r.(?)" "p.(Gly1719Trpfs*52)" "15" "" "0000671982" "00023950" "30" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(=)" "15" "" "0000671983" "00023950" "50" "5180" "0" "5180" "0" "c.5180C>T" "r.(?)" "p.(Pro1727Leu)" "15" "" "0000671984" "00023950" "90" "5186" "0" "5186" "0" "c.5186del" "r.(?)" "p.(Pro1729Glnfs*30)" "15" "" "0000671985" "00023950" "30" "5214" "0" "5214" "0" "c.5214C>T" "r.(?)" "p.(=)" "15" "" "0000671986" "00023950" "90" "5242" "0" "5257" "0" "c.5242_5257del" "r.(?)" "p.(Val1748Profs*6)" "15" "" "0000671987" "00023950" "30" "5244" "0" "5244" "0" "c.5244C>T" "r.(?)" "p.(=)" "15" "" "0000671988" "00023950" "90" "5245" "0" "5245" "0" "c.5245del" "r.(?)" "p.(Val1749Tyrfs*10)" "15" "" "0000671989" "00023950" "70" "5256" "0" "5256" "0" "c.5256G>C" "r.(?)" "p.(Trp1752Cys)" "15" "" "0000671990" "00023950" "50" "5288" "0" "5288" "0" "c.5288C>G" "r.(?)" "p.(Ser1763Cys)" "15" "" "0000671991" "00023950" "30" "5289" "0" "5289" "0" "c.5289C>T" "r.(?)" "p.(=)" "15" "" "0000671992" "00023950" "90" "5290" "0" "5290" "0" "c.5290G>T" "r.(?)" "p.(Glu1764*)" "15" "" "0000671993" "00023950" "30" "5307" "0" "5307" "0" "c.5307T>C" "r.(?)" "p.(=)" "15" "" "0000671994" "00023950" "30" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Thr1773Ile)" "15" "" "0000671995" "00023950" "30" "5330" "0" "5330" "0" "c.5330A>C" "r.(?)" "p.(His1777Pro)" "15" "" "0000671996" "00023950" "30" "5357" "0" "5357" "0" "c.5357C>T" "r.(?)" "p.(Pro1786Leu)" "15" "" "0000671997" "00023950" "30" "5359" "0" "5359" "0" "c.5359C>T" "r.(?)" "p.(=)" "15" "" "0000671998" "00023950" "90" "5363" "0" "5363" "0" "c.5363del" "r.(?)" "p.(Gly1788Alafs*15)" "15" "" "0000671999" "00023950" "30" "5363" "0" "5363" "0" "c.5363G>A" "r.(?)" "p.(Gly1788Asp)" "15" "" "0000672000" "00023950" "30" "5368" "0" "5368" "0" "c.5368G>C" "r.(?)" "p.(Ala1790Pro)" "15" "" "0000672001" "00023950" "30" "5369" "0" "5369" "0" "c.5369C>T" "r.(?)" "p.(Ala1790Val)" "15" "" "0000672002" "00023950" "30" "5373" "0" "5373" "0" "c.5373C>T" "r.(?)" "p.(=)" "15" "" "0000672003" "00023950" "30" "5374" "0" "5374" "0" "c.5374G>A" "r.(?)" "p.(Ala1792Thr)" "15" "" "0000672004" "00023950" "90" "5395" "0" "5395" "0" "c.5395C>T" "r.(?)" "p.(Gln1799*)" "15" "" "0000672005" "00023950" "30" "5403" "0" "5403" "0" "c.5403T>C" "r.(?)" "p.(=)" "15" "" "0000672006" "00023950" "30" "5418" "0" "5418" "0" "c.5418C>A" "r.(?)" "p.(Ser1806Arg)" "15" "" "0000672007" "00023950" "50" "5431" "0" "5431" "0" "c.5431G>A" "r.(?)" "p.(Glu1811Lys)" "15" "" "0000672008" "00023950" "90" "5432" "0" "5477" "0" "c.5432_5477del" "r.(?)" "p.(Glu1811Glyfs*10)" "15" "" "0000672009" "00023950" "30" "5433" "0" "5433" "0" "c.5433G>T" "r.(?)" "p.(Glu1811Asp)" "15" "" "0000672010" "00023950" "50" "5449" "0" "5449" "0" "c.5449G>A" "r.(?)" "p.(Val1817Met)" "15" "" "0000672011" "00023950" "30" "5454" "0" "5454" "0" "c.5454G>A" "r.(?)" "p.(=)" "15" "" "0000672012" "00023950" "30" "5458" "0" "5458" "0" "c.5458G>A" "r.(?)" "p.(Gly1820Arg)" "15" "" "0000672013" "00023950" "90" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Trp1826*)" "15" "" "0000672014" "00023950" "90" "5480" "0" "5481" "0" "c.5480_5481dup" "r.(?)" "p.(Gln1828Glyfs*9)" "15" "" "0000672015" "00023950" "90" "5482" "0" "5482" "0" "c.5482C>T" "r.(?)" "p.(Gln1828*)" "15" "" "0000672016" "00023950" "50" "5483" "0" "5483" "0" "c.5483A>G" "r.(?)" "p.(Gln1828Arg)" "15" "" "0000672017" "00023950" "30" "5485" "0" "5485" "0" "c.5485C>T" "r.(?)" "p.(=)" "15" "" "0000672018" "00023950" "70" "5494" "0" "5494" "0" "c.5494G>A" "r.(?)" "p.(Gly1832Ser)" "15" "" "0000672019" "00023950" "90" "5511" "0" "5511" "0" "c.5511G>A" "r.(?)" "p.(Trp1837*)" "15" "" "0000672020" "00023950" "90" "5515" "0" "5515" "0" "c.5515del" "r.(?)" "p.(Trp1839Glyfs*110)" "15" "" "0000672021" "00023950" "70" "5515" "0" "5515" "0" "c.5515T>A" "r.(?)" "p.(Trp1839Arg)" "15" "" "0000672022" "00023950" "30" "5541" "0" "5541" "0" "c.5541G>A" "r.(?)" "p.(=)" "15" "" "0000672023" "00023950" "90" "5552" "0" "5553" "0" "c.5552_5553del" "r.(?)" "p.(His1851Argfs*138)" "15" "" "0000672024" "00023950" "90" "5555" "0" "5555" "0" "c.5555dup" "r.(?)" "p.(Thr1853Hisfs*137)" "15" "" "0000672025" "00023950" "90" "5560" "0" "5560" "0" "c.5560dup" "r.(?)" "p.(Met1854Asnfs*136)" "15" "" "0000672026" "00023950" "90" "5567" "0" "5567" "0" "c.5567dup" "r.(?)" "p.(Asp1858Glyfs*132)" "15" "" "0000672027" "00023950" "90" "5572" "0" "5572" "0" "c.5572del" "r.(?)" "p.(Asp1858Metfs*91)" "15" "" "0000672028" "00023950" "30" "5577" "0" "5577" "0" "c.5577T>C" "r.(?)" "p.(=)" "15" "" "0000672029" "00023950" "30" "5580" "0" "5580" "0" "c.5580C>A" "r.(?)" "p.(=)" "15" "" "0000672030" "00023950" "30" "5582" "0" "5582" "0" "c.5582C>T" "r.(?)" "p.(Thr1861Ile)" "15" "" "0000672031" "00023950" "90" "5595" "0" "5595" "0" "c.5595del" "r.(?)" "p.(Leu1866Serfs*83)" "15" "" "0000672032" "00023950" "50" "5597" "0" "5597" "0" "c.5597T>C" "r.(?)" "p.(Leu1866Pro)" "15" "" "0000672033" "00023950" "30" "5598" "0" "5598" "0" "c.5598C>T" "r.(?)" "p.(=)" "15" "" "0000672034" "00023950" "70" "5608" "0" "5608" "0" "c.5608A>G" "r.(?)" "p.(Asn1870Asp)" "15" "" "0000672035" "00023950" "70" "5608" "0" "5608" "0" "c.5608A>C" "r.(?)" "p.(Asn1870His)" "15" "" "0000672036" "00023950" "70" "5610" "0" "5610" "0" "c.5610C>G" "r.(?)" "p.(Asn1870Lys)" "15" "" "0000672037" "00023950" "30" "5611" "0" "5611" "0" "c.5611G>A" "r.(?)" "p.(Ala1871Thr)" "15" "" "0000672038" "00023950" "70" "5618" "0" "5618" "0" "c.5618G>T" "r.(?)" "p.(Ser1873Ile)" "15" "" "0000672039" "00023950" "90" "5622" "0" "5622" "0" "c.5622G>A" "r.(?)" "p.(Trp1874*)" "15" "" "0000672040" "00023950" "90" "5628" "0" "5629" "0" "c.5628_5629delinsC" "r.(?)" "p.(Ala1877Profs*72)" "15" "" "0000672041" "00023950" "30" "5633" "0" "5633" "0" "c.5633C>T" "r.(?)" "p.(Thr1878Met)" "15" "" "0000672042" "00023950" "90" "5659" "0" "5672" "0" "c.5659_5672del" "r.(?)" "p.(Ile1887Alafs*98)" "15" "" "0000672043" "00023950" "30" "5662" "0" "5662" "0" "c.5662G>A" "r.(?)" "p.(Val1888Met)" "15" "" "0000672044" "00023950" "30" "5682" "0" "5682" "0" "c.5682C>T" "r.(?)" "p.(=)" "15" "" "0000672045" "00023950" "90" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Gln1903*)" "15" "" "0000672046" "00023950" "90" "5722" "0" "5722" "0" "c.5722C>T" "r.(?)" "p.(Gln1908*)" "15" "" "0000672047" "00023950" "30" "5739" "0" "5739" "0" "c.5739C>T" "r.(?)" "p.(=)" "15" "" "0000672048" "00023950" "70" "5741" "0" "5741" "0" "c.5741G>C" "r.(?)" "p.(Gly1914Ala)" "15" "" "0000672049" "00023950" "90" "5756" "0" "5757" "0" "c.5756_5757delinsAA" "r.(?)" "p.(Phe1919*)" "15" "" "0000672050" "00023950" "90" "5758" "0" "5758" "0" "c.5758del" "r.(?)" "p.(Arg1920Alafs*29)" "15" "" "0000672051" "00023950" "30" "5763" "0" "5763" "0" "c.5763G>A" "r.(?)" "p.(=)" "15" "" "0000672052" "00023950" "90" "5764" "0" "5764" "0" "c.5764C>T" "r.(?)" "p.(Gln1922*)" "15" "" "0000672053" "00023950" "30" "5769" "0" "5769" "0" "c.5769C>T" "r.(?)" "p.(=)" "15" "" "0000672054" "00023950" "30" "5772" "0" "5772" "0" "c.5772C>T" "r.(?)" "p.(=)" "15" "" "0000672055" "00023950" "30" "5777" "0" "5777" "0" "c.5777C>T" "r.(?)" "p.(Ala1926Val)" "15" "" "0000672056" "00023950" "30" "5783" "0" "5783" "0" "c.5783C>G" "r.(?)" "p.(Pro1928Arg)" "15" "" "0000672057" "00023950" "90" "5814" "0" "5814" "0" "c.5814dup" "r.(?)" "p.(Ser1939Glnfs*51)" "15" "" "0000672058" "00023950" "90" "5824" "0" "5824" "0" "c.5824dup" "r.(?)" "p.(Arg1942Profs*48)" "15" "" "0000672059" "00023950" "30" "5825" "0" "5825" "0" "c.5825G>A" "r.(?)" "p.(Arg1942His)" "15" "" "0000672060" "00023950" "30" "5826" "0" "5826" "0" "c.5826C>T" "r.(?)" "p.(=)" "15" "" "0000672061" "00023950" "30" "5827" "0" "5827" "0" "c.5827G>A" "r.(?)" "p.(Val1943Ile)" "15" "" "0000672062" "00023950" "50" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Gly1944Arg)" "15" "" "0000672063" "00023950" "30" "5847" "0" "5847" "0" "c.5847C>T" "r.(?)" "p.(=)" "15" "" "0000672064" "00023950" "50" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Val1950Met)" "15" "" "0000672065" "00023950" "30" "5855" "0" "5855" "0" "c.5855G>A" "r.(?)" "p.(Gly1952Asp)" "15" "" "0000672066" "00023950" "90" "5861" "0" "5861" "0" "c.5861dup" "r.(?)" "p.(Asn1954Lysfs*36)" "15" "" "0000672067" "00023950" "90" "5866" "0" "5866" "0" "c.5866dup" "r.(?)" "p.(Val1956Glyfs*34)" "15" "" "0000672068" "00023950" "70" "5867" "0" "5867" "0" "c.5867T>A" "r.(?)" "p.(Val1956Glu)" "15" "" "0000672069" "00023950" "90" "5878" "0" "5878" "0" "c.5878C>T" "r.(?)" "p.(Gln1960*)" "15" "" "0000672070" "00023950" "90" "5899" "0" "5899" "0" "c.5899del" "r.(?)" "p.(Val1967Cysfs*5)" "15" "" "0000672071" "00023950" "70" "5899" "0" "5901" "0" "c.5899_5901del" "r.(?)" "p.(Val1967del)" "15" "" "0000672072" "00023950" "50" "5899" "0" "5899" "0" "c.5899G>A" "r.(?)" "p.(Val1967Met)" "15" "" "0000672073" "00023950" "90" "5905" "0" "5905" "0" "c.5905G>T" "r.(?)" "p.(Glu1969*)" "15" "" "0000672074" "00023950" "90" "5912" "0" "5913" "0" "c.5912_5913del" "r.(?)" "p.(Val1971Glufs*18)" "15" "" "0000672075" "00023950" "90" "5923" "0" "5923" "0" "c.5923C>T" "r.(?)" "p.(Gln1975*)" "15" "" "0000672076" "00023950" "70" "5936" "0" "5936" "0" "c.5936G>A" "r.(?)" "p.(Cys1979Tyr)" "15" "" "0000672077" "00023950" "70" "5960" "0" "5960" "0" "c.5960G>A" "r.(?)" "p.(Gly1987Asp)" "15" "" "0000672078" "00023950" "90" "5968" "0" "5969" "0" "c.5968_5969del" "r.(?)" "p.(Arg1990Glufs*59)" "15" "" "0000672079" "00023950" "90" "5968" "0" "5969" "0" "c.5968_5969del" "r.(?)" "p.(Arg1990Glufs*59)" "15" "" "0000672080" "00023950" "90" "5971" "0" "6018" "0" "c.5971_6018del" "r.(?)" "p.(Asn1991_Trp2006del)" "15" "" "0000672081" "00023950" "30" "5973" "0" "5973" "0" "c.5973C>T" "r.(?)" "p.(=)" "15" "" "0000672082" "00023950" "70" "5976" "0" "5978" "0" "c.5976_5978del" "r.(?)" "p.(Phe1992_Thr1993delinsLeu)" "15" "" "0000672083" "00023950" "70" "5983" "0" "5983" "0" "c.5983C>T" "r.(?)" "p.(Arg1995Cys)" "15" "" "0000672084" "00023950" "30" "5984" "0" "5984" "0" "c.5984G>A" "r.(?)" "p.(Arg1995His)" "15" "" "0000672085" "00023950" "70" "5995" "0" "5995" "0" "c.5995G>A" "r.(?)" "p.(Gly1999Ser)" "15" "" "0000672086" "00023950" "70" "5996" "0" "5996" "0" "c.5996G>C" "r.(?)" "p.(Gly1999Ala)" "15" "" "0000672087" "00023950" "70" "5996" "0" "5996" "0" "c.5996G>T" "r.(?)" "p.(Gly1999Val)" "15" "" "0000672088" "00023950" "90" "5999" "0" "6022" "0" "c.5999_6022del" "r.(?)" "p.(Ser2000_Tyr2007del)" "15" "" "0000672089" "00023950" "50" "5998" "0" "5998" "0" "c.5998T>C" "r.(?)" "p.(Ser2000Pro)" "15" "" "0000672090" "00023950" "30" "6001" "0" "6001" "0" "c.6001C>T" "r.(?)" "p.(Arg2001Trp)" "15" "" "0000672091" "00023950" "30" "6007" "0" "6007" "0" "c.6007G>A" "r.(?)" "p.(Ala2003Thr)" "15" "" "0000672092" "00023950" "90" "6010" "0" "6010" "0" "c.6010del" "r.(?)" "p.(Tyr2004Thrfs*112)" "15" "" "0000672093" "00023950" "70" "6018" "0" "6018" "0" "c.6018G>T" "r.(?)" "p.(Trp2006Cys)" "15" "" "0000672094" "00023950" "30" "6021" "0" "6021" "0" "c.6021C>T" "r.(?)" "p.(=)" "15" "" "0000672095" "00023950" "50" "6026" "0" "6026" "0" "c.6026C>T" "r.(?)" "p.(Ser2009Leu)" "15" "" "0000672096" "00023950" "90" "6031" "0" "6031" "0" "c.6031C>T" "r.(?)" "p.(Gln2011*)" "15" "" "0000672097" "00023950" "90" "6040" "0" "6040" "0" "c.6040C>T" "r.(?)" "p.(Gln2014*)" "15" "" "0000672098" "00023950" "90" "6050" "0" "6050" "0" "c.6050C>A" "r.(?)" "p.(Ser2017*)" "15" "" "0000672099" "00023950" "50" "6062" "0" "6062" "0" "c.6062T>C" "r.(?)" "p.(Leu2021Pro)" "15" "" "0000672100" "00023950" "30" "6063" "0" "6063" "0" "c.6063G>A" "r.(?)" "p.(=)" "15" "" "0000672101" "00023950" "90" "6065" "0" "6065" "0" "c.6065C>A" "r.(?)" "p.(Ser2022*)" "15" "" "0000672102" "00023950" "30" "6078" "0" "6078" "0" "c.6078C>T" "r.(?)" "p.(=)" "15" "" "0000672103" "00023950" "90" "6088" "0" "6091" "0" "c.6088_6091del" "r.(?)" "p.(Pro2030Trpfs*85)" "15" "" "0000672104" "00023950" "90" "6090" "0" "6090" "0" "c.6090del" "r.(?)" "p.(Val2031Trpfs*85)" "15" "" "0000672105" "00023950" "30" "6099" "0" "6099" "0" "c.6099G>A" "r.(?)" "p.(=)" "15" "" "0000672106" "00023950" "90" "6115" "0" "6115" "0" "c.6115C>T" "r.(?)" "p.(Gln2039*)" "15" "" "0000672107" "00023950" "50" "6122" "0" "6122" "0" "c.6122G>C" "r.(?)" "p.(Arg2041Pro)" "15" "" "0000672108" "00023950" "90" "6140" "0" "6140" "0" "c.6140dup" "r.(?)" "p.(Ser2048Glnfs*2)" "15" "" "0000672109" "00023950" "90" "6145" "0" "6145" "0" "c.6145dup" "r.(?)" "p.(Glu2049Glyfs*32)" "15" "" "0000672110" "00023950" "70" "6151" "0" "6151" "0" "c.6151C>T" "r.(?)" "p.(Arg2051Cys)" "15" "" "0000672111" "00023950" "30" "6159" "0" "6159" "0" "c.6159G>C" "r.(?)" "p.(=)" "15" "" "0000672112" "00023950" "90" "6166" "0" "6166" "0" "c.6166G>T" "r.(?)" "p.(Glu2056*)" "15" "" "0000672113" "00023950" "90" "6172" "0" "6172" "0" "c.6172C>T" "r.(?)" "p.(Gln2058*)" "15" "" "0000672114" "00023950" "30" "6185" "0" "6185" "0" "c.6185A>T" "r.(?)" "p.(Gln2062Leu)" "15" "" "0000672115" "00023950" "90" "6199" "0" "6199" "0" "c.6199C>T" "r.(?)" "p.(Gln2067*)" "15" "" "0000672116" "00023950" "30" "6200" "0" "6200" "0" "c.6200A>G" "r.(?)" "p.(Gln2067Arg)" "15" "" "0000672117" "00023950" "30" "6204" "0" "6204" "0" "c.6204C>T" "r.(?)" "p.(=)" "15" "" "0000672118" "00023950" "30" "6205" "0" "6205" "0" "c.6205G>A" "r.(?)" "p.(Gly2069Ser)" "15" "" "0000672119" "00023950" "90" "6206" "0" "6207" "0" "c.6206_6207delinsA" "r.(?)" "p.(Gly2069Aspfs*47)" "15" "" "0000672120" "00023950" "90" "6223" "0" "6250" "0" "c.6223_6250del" "r.(?)" "p.(Arg2075Alafs*32)" "15" "" "0000672121" "00023950" "30" "6224" "0" "6224" "0" "c.6224G>A" "r.(?)" "p.(Arg2075His)" "15" "" "0000672122" "00023950" "30" "6231" "0" "6231" "0" "c.6231G>A" "r.(?)" "p.(=)" "15" "" "0000672123" "00023950" "30" "6244" "0" "6244" "0" "c.6244G>A" "r.(?)" "p.(Ala2082Thr)" "15" "" "0000672124" "00023950" "50" "6248" "0" "6248" "0" "c.6248C>T" "r.(?)" "p.(Thr2083Ile)" "15" "" "0000672125" "00023950" "30" "6255" "0" "6255" "0" "c.6255C>T" "r.(?)" "p.(=)" "15" "" "0000672126" "00023950" "90" "6255" "0" "6255" "0" "c.6255del" "r.(?)" "p.(Ser2086Alafs*30)" "15" "" "0000672127" "00023950" "70" "6275" "0" "6275" "0" "c.6275A>G" "r.(?)" "p.(Tyr2092Cys)" "15" "" "0000672128" "00023950" "30" "6297" "0" "6297" "0" "c.6297G>T" "r.(?)" "p.(=)" "15" "" "0000672129" "00023950" "30" "6299" "0" "6299" "0" "c.6299C>T" "r.(?)" "p.(Ser2100Leu)" "15" "" "0000672130" "00023950" "90" "6307" "0" "6307" "0" "c.6307C>T" "r.(?)" "p.(Gln2103*)" "15" "" "0000672131" "00023950" "30" "6330" "0" "6330" "0" "c.6330C>G" "r.(?)" "p.(=)" "15" "" "0000672132" "00023950" "30" "6330" "0" "6330" "0" "c.6330C>T" "r.(?)" "p.(=)" "15" "" "0000672133" "00023950" "30" "6331" "0" "6331" "0" "c.6331G>A" "r.(?)" "p.(Glu2111Lys)" "15" "" "0000672134" "00023950" "90" "6331" "0" "6331" "0" "c.6331G>T" "r.(?)" "p.(Glu2111*)" "15" "" "0000672135" "00023950" "30" "6363" "0" "6363" "0" "c.6363C>T" "r.(?)" "p.(=)" "15" "" "0000672136" "00023950" "70" "6382" "0" "6382" "0" "c.6382A>C" "r.(?)" "p.(Asn2128His)" "15" "" "0000672137" "00023950" "70" "6395" "0" "6395" "0" "c.6395T>G" "r.(?)" "p.(Phe2132Cys)" "15" "" "0000672138" "00023950" "70" "6397" "0" "6399" "0" "c.6397_6399del" "r.(?)" "p.(Phe2133del)" "15" "" "0000672139" "00023950" "50" "6403" "0" "6403" "0" "c.6403G>A" "r.(?)" "p.(Ala2135Thr)" "15" "" "0000672140" "00023950" "90" "6406" "0" "6406" "0" "c.6406C>T" "r.(?)" "p.(Gln2136*)" "15" "" "0000672141" "00023950" "30" "6420" "0" "6420" "0" "c.6420C>T" "r.(?)" "p.(=)" "15" "" "0000672142" "00023950" "90" "6424" "0" "6424" "0" "c.6424C>T" "r.(?)" "p.(Gln2142*)" "15" "" "0000672143" "00023950" "30" "6439" "0" "6439" "0" "c.6439C>T" "r.(?)" "p.(Arg2147Trp)" "15" "" "0000672144" "00023950" "90" "6440" "0" "6467" "0" "c.6440_6467del" "r.(?)" "p.(Arg2147Profs*5)" "15" "" "0000672145" "00023950" "90" "6442" "0" "6442" "0" "c.6442G>T" "r.(?)" "p.(Glu2148*)" "15" "" "0000672146" "00023950" "90" "6454" "0" "6454" "0" "c.6454dup" "r.(?)" "p.(Asp2152Glyfs*23)" "15" "" "0000672147" "00023950" "30" "6456" "0" "6456" "0" "c.6456C>T" "r.(?)" "p.(=)" "15" "" "0000672148" "00023950" "90" "6457" "0" "6457" "0" "c.6457dup" "r.(?)" "p.(Val2153Glyfs*22)" "15" "" "0000672149" "00023950" "30" "6457" "0" "6457" "0" "c.6457G>A" "r.(?)" "p.(Val2153Met)" "15" "" "0000672150" "00023950" "90" "6440" "0" "6467" "0" "c.6440_6467dup" "r.(?)" "p.(Leu2157Glyfs*27)" "15" "" "0000672151" "00023950" "90" "6472" "0" "6472" "0" "c.6472C>T" "r.(?)" "p.(Gln2158*)" "15" "" "0000672152" "00023950" "90" "6475" "0" "6476" "0" "c.6475_6476insCCCC" "r.(?)" "p.(Val2159Alafs*17)" "15" "" "0000672153" "00023950" "90" "6483" "0" "6483" "0" "c.6483dup" "r.(?)" "p.(Arg2162Alafs*13)" "15" "" "0000672154" "00023950" "30" "6484" "0" "6484" "0" "c.6484C>T" "r.(?)" "p.(Arg2162Trp)" "15" "" "0000672155" "00023950" "50" "6485" "0" "6485" "0" "c.6485G>A" "r.(?)" "p.(Arg2162Gln)" "15" "" "0000672156" "00023950" "90" "6487" "0" "6487" "0" "c.6487C>T" "r.(?)" "p.(Arg2163*)" "15" "" "0000672157" "00023950" "30" "6488" "0" "6488" "0" "c.6488G>A" "r.(?)" "p.(Arg2163Gln)" "15" "" "0000672158" "00023950" "90" "6491" "0" "6491" "0" "c.6491C>G" "r.(?)" "p.(Ser2164*)" "15" "" "0000672159" "00023950" "50" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "15" "" "0000672160" "00023950" "90" "6504" "0" "6504" "0" "c.6504C>G" "r.(?)" "p.(Tyr2168*)" "15" "" "0000672161" "00023950" "90" "6518" "0" "6528" "0" "c.6518_6528del" "r.(?)" "p.(Val2173Glyfs*8)" "15" "" "0000672162" "00023950" "30" "6540" "0" "6540" "0" "c.6540C>T" "r.(?)" "p.(=)" "15" "" "0000672163" "00023950" "90" "6543" "0" "6543" "0" "c.6543C>G" "r.(?)" "p.(Tyr2181*)" "15" "" "0000672164" "00023950" "30" "6545" "0" "6545" "0" "c.6545A>G" "r.(?)" "p.(Gln2182Arg)" "15" "" "0000672165" "00023950" "90" "6549" "0" "6549" "0" "c.6549dup" "r.(?)" "p.(Glu2184*)" "15" "" "0000672166" "00023950" "70" "6553" "0" "6553" "0" "c.6553T>G" "r.(?)" "p.(Tyr2185Asp)" "15" "" "0000672167" "00023950" "70" "6559" "0" "6559" "0" "c.6559T>C" "r.(?)" "p.(Trp2187Arg)" "15" "" "0000672168" "00023950" "90" "6560" "0" "6560" "0" "c.6560G>A" "r.(?)" "p.(Trp2187*)" "15" "" "0000672169" "00023950" "90" "6570" "0" "6570" "0" "c.6570T>A" "r.(?)" "p.(Tyr2190*)" "15" "" "0000672170" "00023950" "30" "6572" "0" "6572" "0" "c.6572G>A" "r.(?)" "p.(Arg2191His)" "15" "" "0000672171" "00023950" "90" "6574" "0" "6580" "0" "c.6574_6580del" "r.(?)" "p.(Thr2192Alafs*18)" "15" "" "0000672172" "00023950" "30" "6576" "0" "6576" "0" "c.6576C>T" "r.(?)" "p.(=)" "15" "" "0000672173" "00023950" "90" "6583" "0" "6589" "0" "c.6583_6589del" "r.(?)" "p.(Cys2195Glyfs*15)" "15" "" "0000672174" "00023950" "90" "6583" "0" "6589" "0" "c.6583_6589del" "r.(?)" "p.(Cys2195Glyfs*15)" "15" "" "0000672175" "00023950" "90" "6586" "0" "6586" "0" "c.6586C>T" "r.(?)" "p.(Gln2196*)" "15" "" "0000672176" "00023950" "30" "6593" "0" "6593" "0" "c.6593C>T" "r.(?)" "p.(Pro2198Leu)" "15" "" "0000672177" "00023950" "30" "6598" "0" "6598" "0" "c.6598C>T" "r.(?)" "p.(Arg2200Cys)" "15" "" "0000672178" "00023950" "30" "6606" "0" "6606" "0" "c.6606G>A" "r.(?)" "p.(=)" "15" "" "0000672179" "00023950" "30" "6608" "0" "6608" "0" "c.6608G>A" "r.(?)" "p.(Arg2203His)" "15" "" "0000672180" "00023950" "30" "6621" "0" "6621" "0" "c.6621C>G" "r.(?)" "p.(=)" "15" "" "0000672181" "00023950" "90" "6607" "0" "6625" "0" "c.6607_6625dup" "r.(?)" "p.(Val2209Alafs*59)" "15" "" "0000672182" "00023950" "30" "6625" "0" "6625" "0" "c.6625G>A" "r.(?)" "p.(Val2209Met)" "15" "" "0000672183" "00023950" "30" "6635" "0" "6635" "0" "c.6635G>A" "r.(?)" "p.(Ser2212Asn)" "15" "" "0000672184" "00023950" "70" "6643" "0" "6643" "0" "c.6643C>T" "r.(?)" "p.(Arg2215Trp)" "15" "" "0000672185" "00023950" "30" "6644" "0" "6644" "0" "c.6644G>A" "r.(?)" "p.(Arg2215Gln)" "15" "" "0000672186" "00023950" "70" "6647" "0" "6647" "0" "c.6647T>A" "r.(?)" "p.(Leu2216Gln)" "15" "" "0000672187" "00023950" "90" "6650" "0" "6664" "0" "c.6650_6664del" "r.(?)" "p.(Val2217_Leu2221del)" "15" "" "0000672188" "00023950" "90" "6642" "0" "6656" "0" "c.6642_6656dup" "r.(?)" "p.(Val2217_Leu2221dup)" "15" "" "0000672189" "00023950" "90" "6657" "0" "6671" "0" "c.6657_6671del" "r.(?)" "p.(Arg2220_Pro2224del)" "15" "" "0000672190" "00023950" "50" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Arg2220Trp)" "15" "" "0000672191" "00023950" "90" "6650" "0" "6664" "0" "c.6650_6664dup" "r.(?)" "p.(Val2217_Leu2221dup)" "15" "" "0000672192" "00023950" "30" "6665" "0" "6665" "0" "c.6665C>T" "r.(?)" "p.(Ala2222Val)" "15" "" "0000672193" "00023950" "30" "6666" "0" "6666" "0" "c.6666G>A" "r.(?)" "p.(=)" "15" "" "0000672194" "00023950" "90" "6670" "0" "6671" "0" "c.6670_6671insA" "r.(?)" "p.(Pro2224Hisfs*38)" "15" "" "0000672195" "00023950" "50" "6671" "0" "6671" "0" "c.6671C>T" "r.(?)" "p.(Pro2224Leu)" "15" "" "0000672196" "00023950" "50" "6680" "0" "6680" "0" "c.6680A>C" "r.(?)" "p.(His2227Pro)" "15" "" "0000672197" "00023950" "90" "6687" "0" "6687" "0" "c.6687C>A" "r.(?)" "p.(Cys2229*)" "15" "" "0000672198" "00023950" "70" "6693" "0" "6698" "0" "c.6693_6698del" "r.(?)" "p.(Phe2232_Val2233del)" "15" "" "0000672199" "00023950" "90" "6696" "0" "6699" "0" "c.6696_6699del" "r.(?)" "p.(Phe2232Leufs*9)" "15" "" "0000672200" "00023950" "30" "6717" "0" "6717" "0" "c.6717G>A" "r.(?)" "p.(=)" "15" "" "0000672201" "00023950" "90" "6727" "0" "6728" "0" "c.6727_6728del" "r.(?)" "p.(Gln2243Glufs*18)" "15" "" "0000672202" "00023950" "90" "6727" "0" "6728" "0" "c.6727_6728del" "r.(?)" "p.(Gln2243Glufs*18)" "15" "" "0000672203" "00023950" "90" "6727" "0" "6730" "0" "c.6727_6730del" "r.(?)" "p.(Gln2243Alafs*6)" "15" "" "0000672204" "00023950" "90" "6727" "0" "6727" "0" "c.6727C>T" "r.(?)" "p.(Gln2243*)" "15" "" "0000672205" "00023950" "90" "6730" "0" "6731" "0" "c.6730_6731del" "r.(?)" "p.(Ser2244Hisfs*17)" "15" "" "0000672206" "00023950" "90" "6734" "0" "6734" "0" "c.6734del" "r.(?)" "p.(Ile2245Thrfs*5)" "15" "" "0000672207" "00023950" "90" "6736" "0" "6736" "0" "c.6736C>T" "r.(?)" "p.(Gln2246*)" "15" "" "0000672208" "00023950" "90" "6744" "0" "6745" "0" "c.6744_6745insA" "r.(?)" "p.(Val2249Serfs*13)" "15" "" "0000672209" "00023950" "30" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "15" "" "0000672210" "00023950" "50" "6763" "0" "6763" "0" "c.6763C>T" "r.(?)" "p.(Arg2255Cys)" "15" "" "0000672211" "00023950" "30" "6771" "0" "6771" "0" "c.6771G>A" "r.(?)" "p.(=)" "15" "" "0000672212" "00023950" "50" "6777" "0" "6777" "0" "c.6777C>A" "r.(?)" "p.(=)" "15" "" "0000672213" "00023950" "70" "6778" "0" "6780" "0" "c.6778_6780del" "r.(?)" "p.(Ile2260del)" "15" "" "0000672214" "00023950" "90" "6781" "0" "6781" "0" "c.6781del" "r.(?)" "p.(Glu2261Argfs*53)" "15" "" "0000672215" "00023950" "90" "6791" "0" "6791" "0" "c.6791C>G" "r.(?)" "p.(Ser2264*)" "15" "" "0000672216" "00023950" "30" "6792" "0" "6792" "0" "c.6792A>C" "r.(?)" "p.(=)" "15" "" "0000672217" "00023950" "90" "6793" "0" "6794" "0" "c.6793_6794dup" "r.(?)" "p.(Arg2266Thrfs*49)" "15" "" "0000672218" "00023950" "90" "6795" "0" "6795" "0" "c.6795C>A" "r.(?)" "p.(Tyr2265*)" "15" "" "0000672219" "00023950" "70" "6797" "0" "6797" "0" "c.6797G>C" "r.(?)" "p.(Arg2266Pro)" "15" "" "0000672220" "00023950" "30" "6799" "0" "6799" "0" "c.6799G>A" "r.(?)" "p.(Val2267Met)" "15" "" "0000672221" "00023950" "90" "6801" "0" "6805" "0" "c.6801_6805dup" "r.(?)" "p.(Ser2269Cysfs*47)" "15" "" "0000672222" "00023950" "90" "6806" "0" "6806" "0" "c.6806C>G" "r.(?)" "p.(Ser2269*)" "15" "" "0000672223" "00023950" "90" "6808" "0" "6811" "0" "c.6808_6811del" "r.(?)" "p.(Asp2270Hisfs*43)" "15" "" "0000672224" "00023950" "90" "6813" "0" "6814" "0" "c.6813_6814del" "r.(?)" "p.(Arg2272Glyfs*147)" "15" "" "0000672225" "00023950" "30" "6815" "0" "6815" "0" "c.6815G>A" "r.(?)" "p.(Arg2272Gln)" "15" "" "0000672226" "00023950" "70" "6832" "0" "6832" "0" "c.6832G>A" "r.(?)" "p.(Gly2278Arg)" "15" "" "0000672227" "00023950" "70" "6841" "0" "6841" "0" "c.6841T>C" "r.(?)" "p.(Ser2281Pro)" "15" "" "0000672228" "00023950" "30" "6843" "0" "6843" "0" "c.6843C>G" "r.(?)" "p.(=)" "15" "" "0000672229" "00023950" "70" "6845" "0" "6845" "0" "c.6845A>G" "r.(?)" "p.(Tyr2282Cys)" "15" "" "0000672230" "00023950" "30" "6864" "0" "6864" "0" "c.6864C>T" "r.(?)" "p.(=)" "15" "" "0000672231" "00023950" "90" "6871" "0" "6871" "0" "c.6871C>T" "r.(?)" "p.(Gln2291*)" "15" "" "0000672232" "00023950" "30" "6878" "0" "6878" "0" "c.6878C>T" "r.(?)" "p.(Pro2293Leu)" "15" "" "0000672233" "00023950" "90" "6882" "0" "6883" "0" "c.6882_6883del" "r.(?)" "p.(Ser2295Phefs*124)" "15" "" "0000672234" "00023950" "50" "6889" "0" "6889" "0" "c.6889C>T" "r.(?)" "p.(His2297Tyr)" "15" "" "0000672235" "00023950" "70" "6890" "0" "6890" "0" "c.6890A>C" "r.(?)" "p.(His2297Pro)" "15" "" "0000672236" "00023950" "70" "6892" "0" "6892" "0" "c.6892T>G" "r.(?)" "p.(Trp2298Gly)" "15" "" "0000672237" "00023950" "90" "6893" "0" "6893" "0" "c.6893G>A" "r.(?)" "p.(Trp2298*)" "15" "" "0000672238" "00023950" "30" "6905" "0" "6905" "0" "c.6905C>G" "r.(?)" "p.(Ala2302Gly)" "15" "" "0000672239" "00023950" "30" "6909" "0" "6909" "0" "c.6909G>A" "r.(?)" "p.(=)" "15" "" "0000672240" "00023950" "90" "6913" "0" "6914" "0" "c.6913_6914del" "r.(?)" "p.(Gln2305Glufs*114)" "15" "" "0000672241" "00023950" "90" "6915" "1" "6915" "1" "c.6915+1G>A" "r.spl" "p.?" "15i" "" "0000672242" "00023950" "90" "6915" "2" "6915" "2" "c.6915+2T>G" "r.spl" "p.?" "15i" "" "0000672243" "00023950" "70" "6915" "4" "6915" "4" "c.6915+4A>G" "r.spl?" "p.?" "15i" "" "0000672244" "00023950" "30" "6915" "14" "6915" "14" "c.6915+14A>G" "r.(?)" "p.(=)" "15i" "" "0000672245" "00023950" "30" "6915" "20" "6915" "20" "c.6915+20G>A" "r.(?)" "p.(=)" "15i" "" "0000672246" "00023950" "30" "6915" "22" "6915" "22" "c.6915+22C>T" "r.(?)" "p.(=)" "15i" "" "0000672247" "00023950" "30" "6915" "27" "6915" "27" "c.6915+27A>C" "r.(?)" "p.(=)" "15i" "" "0000672248" "00023950" "30" "6916" "-25" "6916" "-25" "c.6916-25G>T" "r.(?)" "p.(=)" "15i" "" "0000672249" "00023950" "70" "6916" "-10" "6916" "-10" "c.6916-10C>A" "r.spl" "p.(=)" "15i" "" "0000672250" "00023950" "70" "6916" "-9" "6916" "-9" "c.6916-9G>A" "r.spl" "p.(=)" "15i" "" "0000672251" "00023950" "90" "6919" "0" "6919" "0" "c.6919G>T" "r.(?)" "p.(Glu2307*)" "16" "" "0000672252" "00023950" "30" "6927" "0" "6927" "0" "c.6927C>T" "r.(?)" "p.(=)" "16" "" "0000672253" "00023950" "30" "6928" "0" "6928" "0" "c.6928G>A" "r.(?)" "p.(Gly2310Arg)" "16" "" "0000672254" "00023950" "30" "6934" "0" "6934" "0" "c.6934G>A" "r.(?)" "p.(Ala2312Thr)" "16" "" "0000672255" "00023950" "30" "6935" "0" "6935" "0" "c.6935C>T" "r.(?)" "p.(Ala2312Val)" "16" "" "0000672256" "00023950" "30" "6936" "0" "6936" "0" "c.6936G>A" "r.(?)" "p.(=)" "16" "" "0000672257" "00023950" "90" "6952" "0" "6952" "0" "c.6952del" "r.(?)" "p.(Arg2318Alafs*23)" "16" "" "0000672258" "00023950" "50" "6952" "0" "6952" "0" "c.6952C>T" "r.(?)" "p.(Arg2318Cys)" "16" "" "0000672259" "00023950" "30" "6953" "0" "6953" "0" "c.6953G>A" "r.(?)" "p.(Arg2318His)" "16" "" "0000672260" "00023950" "90" "6968" "0" "6981" "0" "c.6968_6981del" "r.(?)" "p.(Val2323Glyfs*92)" "16" "" "0000672261" "00023950" "30" "6979" "0" "6979" "0" "c.6979C>T" "r.(?)" "p.(Arg2327Trp)" "16" "" "0000672262" "00023950" "50" "6985" "0" "6985" "0" "c.6985C>T" "r.(?)" "p.(Arg2329Trp)" "16" "" "0000672263" "00023950" "30" "6986" "0" "6986" "0" "c.6986G>A" "r.(?)" "p.(Arg2329Gln)" "16" "" "0000672264" "00023950" "90" "6988" "0" "6988" "0" "c.6988del" "r.(?)" "p.(Leu2330Trpfs*11)" "16" "" "0000672265" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000del" "r.(?)" "p.(Ala2332Trpfs*7)" "16" "" "0000672266" "00023950" "90" "6996" "0" "7002" "0" "c.6996_7002del" "r.(?)" "p.(Gly2333Serfs*6)" "16" "" "0000672267" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000dup" "r.(?)" "p.(Val2334Glyfs*88)" "16" "" "0000672268" "00023950" "90" "7003" "0" "7003" "0" "c.7003G>T" "r.(?)" "p.(Glu2335*)" "16" "" "0000672269" "00023950" "70" "7006" "0" "7006" "0" "c.7006T>G" "r.(?)" "p.(Tyr2336Asp)" "16" "" "0000672270" "00023950" "30" "7008" "0" "7008" "0" "c.7008C>T" "r.(?)" "p.(=)" "16" "" "0000672271" "00023950" "90" "7008" "0" "7008" "0" "c.7008C>A" "r.(?)" "p.(Tyr2336*)" "16" "" "0000672272" "00023950" "70" "7010" "0" "7010" "0" "c.7010C>T" "r.(?)" "p.(Thr2337Ile)" "16" "" "0000672273" "00023950" "70" "7010" "0" "7015" "0" "c.7010_7015del" "r.(?)" "p.(Thr2337_Phe2338del)" "16" "" "0000672274" "00023950" "90" "7029" "0" "7029" "0" "c.7029G>A" "r.(?)" "p.(Trp2343*)" "16" "" "0000672275" "00023950" "90" "7045" "0" "7045" "0" "c.7045G>T" "r.(?)" "p.(Glu2349*)" "16" "" "0000672276" "00023950" "90" "7060" "0" "7060" "0" "c.7060C>T" "r.(?)" "p.(Gln2354*)" "16" "" "0000672277" "00023950" "70" "7061" "0" "7061" "0" "c.7061A>G" "r.(?)" "p.(Gln2354Arg)" "16" "" "0000672278" "00023950" "90" "7065" "1" "7065" "1" "c.7065+1G>C" "r.spl" "p.?" "16i" "" "0000672279" "00023950" "90" "7065" "1" "7065" "1" "c.7065+1G>T" "r.spl" "p.?" "16i" "" "0000672280" "00023950" "90" "7066" "-1" "7863" "1" "c.(7065+1_7066-1)_(7863+1_7864-1)del" "r.spl" "p.?" "16i_21i" "" "0000672281" "00023950" "70" "7065" "5" "7065" "5" "c.7065+5G>C" "r.spl?" "p.?" "16i" "" "0000672282" "00023950" "30" "7065" "10" "7065" "10" "c.7065+10G>A" "r.(?)" "p.(=)" "16i" "" "0000672283" "00023950" "30" "7065" "21" "7065" "21" "c.7065+21G>A" "r.(?)" "p.(=)" "16i" "" "0000672284" "00023950" "70" "7066" "-16" "7066" "-8" "c.7066-16_7066-8del" "r.spl" "p.(=)" "16i" "" "0000672285" "00023950" "50" "7066" "-9" "7066" "-9" "c.7066-9C>A" "r.(?)" "p.(=)" "16i" "" "0000672286" "00023950" "30" "7066" "-5" "7066" "-5" "c.7066-5G>A" "r.spl?" "p.(=)" "16i" "" "0000672287" "00023950" "70" "7066" "-3" "7066" "-3" "c.7066-3C>G" "r.spl?" "p.?" "16i" "" "0000672288" "00023950" "90" "7066" "-2" "7066" "-2" "c.7066-2A>G" "r.spl" "p.?" "16i" "" "0000672289" "00023950" "30" "7077" "0" "7077" "0" "c.7077G>C" "r.(?)" "p.(=)" "17" "" "0000672290" "00023950" "70" "7088" "0" "7088" "0" "c.7088T>A" "r.(?)" "p.(Val2363Glu)" "17" "" "0000672291" "00023950" "70" "7108" "0" "7108" "0" "c.7108T>C" "r.(?)" "p.(Cys2370Arg)" "17" "" "0000672292" "00023950" "70" "7108" "0" "7108" "0" "c.7108T>A" "r.(?)" "p.(Cys2370Ser)" "17" "" "0000672293" "00023950" "90" "7110" "0" "7110" "0" "c.7110T>A" "r.(?)" "p.(Cys2370*)" "17" "" "0000672294" "00023950" "90" "7111" "0" "7111" "0" "c.7111del" "r.(?)" "p.(Val2371Cysfs*11)" "17" "" "0000672295" "00023950" "90" "7113" "0" "7114" "0" "c.7113_7114del" "r.(?)" "p.(Ser2372Leufs*47)" "17" "" "0000672296" "00023950" "90" "7114" "0" "7114" "0" "c.7114dup" "r.(?)" "p.(Ser2372Phefs*48)" "17" "" "0000672297" "00023950" "70" "7114" "0" "7114" "0" "c.7114T>C" "r.(?)" "p.(Ser2372Pro)" "17" "" "0000672298" "00023950" "70" "7115" "0" "7115" "0" "c.7115C>G" "r.(?)" "p.(Ser2372Cys)" "17" "" "0000672299" "00023950" "70" "7115" "0" "7115" "0" "c.7115C>T" "r.(?)" "p.(Ser2372Phe)" "17" "" "0000672300" "00023950" "30" "7116" "0" "7116" "0" "c.7116C>G" "r.(?)" "p.(=)" "17" "" "0000672301" "00023950" "70" "7118" "0" "7118" "0" "c.7118G>A" "r.(?)" "p.(Cys2373Tyr)" "17" "" "0000672302" "00023950" "90" "7119" "0" "7119" "0" "c.7119C>A" "r.(?)" "p.(Cys2373*)" "17" "" "0000672303" "00023950" "70" "7124" "0" "7124" "0" "c.7124C>T" "r.(?)" "p.(Ala2375Val)" "17" "" "0000672304" "00023950" "90" "7126" "0" "7126" "0" "c.7126C>T" "r.(?)" "p.(Gln2376*)" "17" "" "0000672305" "00023950" "30" "7134" "0" "7134" "0" "c.7134G>T" "r.(?)" "p.(=)" "17" "" "0000672306" "00023950" "70" "7136" "0" "7136" "0" "c.7136A>G" "r.(?)" "p.(Tyr2379Cys)" "17" "" "0000672307" "00023950" "90" "7137" "0" "7137" "0" "c.7137C>G" "r.(?)" "p.(Tyr2379*)" "17" "" "0000672308" "00023950" "90" "7138" "0" "7138" "0" "c.7138G>T" "r.(?)" "p.(Glu2380*)" "17" "" "0000672309" "00023950" "30" "7147" "0" "7147" "0" "c.7147C>T" "r.(?)" "p.(Arg2383Cys)" "17" "" "0000672310" "00023950" "70" "7148" "0" "7148" "0" "c.7148G>A" "r.(?)" "p.(Arg2383His)" "17" "" "0000672311" "00023950" "90" "7156" "0" "7156" "0" "c.7156dup" "r.(?)" "p.(Tyr2386Leufs*34)" "17" "" "0000672312" "00023950" "90" "7158" "0" "7158" "0" "c.7158C>G" "r.(?)" "p.(Tyr2386*)" "17" "" "0000672313" "00023950" "30" "7165" "0" "7165" "0" "c.7165T>C" "r.(?)" "p.(=)" "17" "" "0000672314" "00023950" "70" "7169" "0" "7171" "0" "c.7169_7171del" "r.(?)" "p.(Glu2390del)" "17" "" "0000672315" "00023950" "70" "7172" "0" "7172" "0" "c.7172G>A" "r.(?)" "p.(Gly2391Asp)" "17" "" "0000672316" "00023950" "50" "7175" "0" "7175" "0" "c.7175G>C" "r.(?)" "p.(Arg2392Pro)" "17" "" "0000672317" "00023950" "90" "7186" "0" "7187" "0" "c.7186_7187insTTGCCTCAATT" "r.(?)" "p.(Cys2396Phefs*228)" "17" "" "0000672318" "00023950" "30" "7190" "0" "7190" "0" "c.7190G>A" "r.(?)" "p.(Ser2397Asn)" "17" "" "0000672319" "00023950" "90" "7202" "0" "7202" "0" "c.7202del" "r.(?)" "p.(Lys2401Serfs*219)" "17" "" "0000672320" "00023950" "90" "7204" "0" "7204" "0" "c.7204C>T" "r.(?)" "p.(Arg2402*)" "17" "" "0000672321" "00023950" "90" "7209" "1" "7328" "0" "c.7209+1_7328dup" "r.spl" "Gly2443fs" "17i_18i" "" "0000672322" "00023950" "70" "7209" "4" "7209" "7" "c.7209+4_7209+7del" "r.spl" "p.?" "17i" "" "0000672323" "00023950" "30" "7209" "16" "7209" "16" "c.7209+16G>A" "r.(?)" "p.(=)" "17i" "" "0000672324" "00023950" "30" "7210" "-27" "7210" "-27" "c.7210-27C>A" "r.(?)" "p.(=)" "17i" "" "0000672325" "00023950" "50" "7210" "-10" "7210" "-10" "c.7210-10C>A" "r.(?)" "p.(=)" "17i" "" "0000672326" "00023950" "90" "7210" "-2" "7210" "-2" "c.7210-2A>G" "r.spl" "p.?" "17i" "" "0000672327" "00023950" "30" "7210" "0" "7210" "0" "c.7210C>T" "r.(?)" "p.(Arg2404Trp)" "18" "" "0000672328" "00023950" "90" "7210" "-1" "8016" "1" "c.(7209+1_7210-1)_(8016+1_8017-1)del" "r.(?)" "p.?" "17i_21i" "" "0000672329" "00023950" "70" "7213" "0" "7213" "0" "c.7213T>C" "r.(?)" "p.(Trp2405Arg)" "18" "" "0000672330" "00023950" "90" "7215" "0" "7215" "0" "c.7215G>A" "r.(?)" "p.(Trp2405*)" "18" "" "0000672331" "00023950" "70" "7222" "0" "7222" "0" "c.7222C>T" "r.(?)" "p.(Arg2408Cys)" "18" "" "0000672332" "00023950" "70" "7241" "0" "7241" "0" "c.7241C>T" "r.(?)" "p.(Thr2414Met)" "18" "" "0000672333" "00023950" "70" "7244" "0" "7244" "0" "c.7244T>C" "r.(?)" "p.(Leu2415Pro)" "18" "" "0000672334" "00023950" "90" "7250" "0" "7250" "0" "c.7250del" "r.(?)" "p.(Leu2417Argfs*203)" "18" "" "0000672335" "00023950" "70" "7250" "0" "7250" "0" "c.7250T>A" "r.(?)" "p.(Leu2417Gln)" "18" "" "0000672336" "00023950" "70" "7263" "0" "7265" "0" "c.7263_7265del" "r.(?)" "p.(Thr2422del)" "18" "" "0000672337" "00023950" "70" "7265" "0" "7265" "0" "c.7265C>A" "r.(?)" "p.(Thr2422Lys)" "18" "" "0000672338" "00023950" "70" "7268" "0" "7268" "0" "c.7268C>T" "r.(?)" "p.(Ser2423Phe)" "18" "" "0000672339" "00023950" "50" "7271" "0" "7271" "0" "c.7271C>T" "r.(?)" "p.(Thr2424Met)" "18" "" "0000672340" "00023950" "50" "7275" "0" "7275" "0" "c.7275C>T" "r.(?)" "p.(=)" "18" "" "0000672341" "00023950" "30" "7278" "0" "7278" "0" "c.7278T>C" "r.(?)" "p.(=)" "18" "" "0000672342" "00023950" "30" "7280" "0" "7280" "0" "c.7280C>T" "r.(?)" "p.(Ala2427Val)" "18" "" "0000672343" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430*)" "18" "" "0000672344" "00023950" "90" "7297" "0" "7308" "0" "c.7297_7308del" "r.(?)" "p.(Leu2433_Gly2436del)" "18" "" "0000672345" "00023950" "70" "7298" "0" "7300" "0" "c.7298_7300del" "r.(?)" "p.(Leu2433del)" "18" "" "0000672346" "00023950" "70" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "18" "" "0000672347" "00023950" "70" "7301" "0" "7301" "0" "c.7301G>A" "r.(?)" "p.(Arg2434Gln)" "18" "" "0000672348" "00023950" "90" "7303" "0" "7317" "0" "c.7303_7317del" "r.(?)" "p.(Arg2435_Arg2439del)" "18" "" "0000672349" "00023950" "90" "7308" "0" "7308" "0" "c.7308dup" "r.(?)" "p.(Val2437Argfs*64)" "18" "" "0000672350" "00023950" "90" "7321" "0" "7322" "0" "c.7321_7322ins12" "r.(?)" "p.?" "18" "" "0000672351" "00023950" "70" "7322" "0" "7324" "0" "c.7322_7324dup" "r.(?)" "p.(Gly2441dup)" "18" "" "0000672352" "00023950" "30" "7324" "0" "7324" "0" "c.7324G>C" "r.(?)" "p.(Glu2442Gln)" "18" "" "0000672353" "00023950" "90" "7328" "0" "7330" "0" "c.7328_7330dup" "r.(?)" "p.(Tyr2444*)" "18" "" "0000672354" "00023950" "70" "7343" "0" "7343" "0" "c.7343T>C" "r.(?)" "p.(Leu2448Pro)" "18" "" "0000672355" "00023950" "30" "7344" "0" "7344" "0" "c.7344C>G" "r.(?)" "p.(=)" "18" "" "0000672356" "00023950" "90" "7372" "0" "7372" "0" "c.7372G>T" "r.(?)" "p.(Glu2458*)" "18" "" "0000672357" "00023950" "70" "7375" "0" "7375" "0" "c.7375G>T" "r.(?)" "p.(Gly2459Cys)" "18" "" "0000672358" "00023950" "70" "7376" "0" "7376" "0" "c.7376G>A" "r.(?)" "p.(Gly2459Asp)" "18" "" "0000672359" "00023950" "70" "7382" "0" "7382" "0" "c.7382C>A" "r.(?)" "p.(Ala2461Asp)" "18" "" "0000672360" "00023950" "90" "7385" "0" "7394" "0" "c.7385_7394del" "r.(?)" "p.(Ser2462Cysfs*155)" "18" "" "0000672361" "00023950" "50" "7388" "0" "7388" "0" "c.7388T>C" "r.(?)" "p.(Ile2463Thr)" "18" "" "0000672362" "00023950" "30" "7391" "0" "7391" "0" "c.7391G>A" "r.(?)" "p.(Arg2464His)" "18" "" "0000672363" "00023950" "50" "7391" "0" "7391" "0" "c.7391G>C" "r.(?)" "p.(Arg2464Pro)" "18" "" "0000672364" "00023950" "70" "7400" "0" "7400" "0" "c.7400C>T" "r.(?)" "p.(Pro2467Leu)" "18" "" "0000672365" "00023950" "90" "7409" "0" "7409" "0" "c.7409del" "r.(?)" "p.(Pro2470Argfs*150)" "18" "" "0000672366" "00023950" "70" "7412" "0" "7412" "0" "c.7412C>T" "r.(?)" "p.(Pro2471Leu)" "18" "" "0000672367" "00023950" "90" "7415" "0" "7415" "0" "c.7415dup" "r.(?)" "p.(Ser2475Leufs*26)" "18" "" "0000672368" "00023950" "90" "7421" "0" "7421" "0" "c.7421del" "r.(?)" "p.(Gly2474Alafs*146)" "18" "" "0000672369" "00023950" "50" "7424" "0" "7424" "0" "c.7424C>T" "r.(?)" "p.(Ser2475Phe)" "18" "" "0000672370" "00023950" "90" "7426" "0" "7429" "0" "c.7426_7429del" "r.(?)" "p.(Cys2476Alafs*143)" "18" "" "0000672371" "00023950" "70" "7426" "0" "7426" "0" "c.7426T>A" "r.(?)" "p.(Cys2476Ser)" "18" "" "0000672372" "00023950" "90" "7429" "0" "7430" "0" "c.7429_7430insACAGT" "r.(?)" "p.(Arg2477Hisfs*145)" "18" "" "0000672373" "00023950" "30" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Cys)" "18" "" "0000672374" "00023950" "30" "7430" "0" "7430" "0" "c.7430G>A" "r.(?)" "p.(Arg2477His)" "18" "" "0000672375" "00023950" "30" "7441" "0" "7441" "0" "c.7441C>T" "r.(?)" "p.(=)" "18" "" "0000672376" "00023950" "30" "7446" "0" "7446" "0" "c.7446C>T" "r.(?)" "p.(=)" "18" "" "0000672377" "00023950" "30" "7448" "0" "7448" "0" "c.7448C>T" "r.(?)" "p.(Ala2483Val)" "18" "" "0000672378" "00023950" "90" "7455" "0" "7455" "0" "c.7455del" "r.(?)" "p.(His2485Glnfs*135)" "18" "" "0000672379" "00023950" "30" "7463" "0" "7463" "0" "c.7463C>T" "r.(?)" "p.(Thr2488Ile)" "18" "" "0000672380" "00023950" "70" "7483" "0" "7483" "0" "c.7483T>C" "r.(?)" "p.(Cys2495Arg)" "18" "" "0000672381" "00023950" "30" "7485" "0" "7485" "0" "c.7485C>T" "r.(?)" "p.(=)" "18" "" "0000672382" "00023950" "50" "7487" "0" "7487" "0" "c.7487C>T" "r.(?)" "p.(Thr2496Met)" "18" "" "0000672383" "00023950" "50" "7490" "-10" "7490" "-10" "c.7490-10C>A" "r.(?)" "p.(=)" "18i" "" "0000672384" "00023950" "30" "7490" "-10" "7490" "-10" "c.7490-10C>T" "r.(?)" "p.(=)" "18i" "" "0000672385" "00023950" "70" "7490" "-5" "7490" "-5" "c.7490-5C>G" "r.spl?" "p.?" "18i" "" "0000672386" "00023950" "70" "7490" "-3" "7490" "-3" "c.7490-3C>G" "r.spl?" "p.?" "18i" "" "0000672387" "00023950" "90" "7490" "-2" "7490" "-2" "c.7490-2A>G" "r.spl" "p.?" "18i" "" "0000672388" "00023950" "30" "7491" "0" "7491" "0" "c.7491C>T" "r.(?)" "p.(=)" "19" "" "0000672389" "00023950" "90" "7493" "0" "7493" "0" "c.7493G>A" "r.(?)" "p.(Trp2498*)" "19" "" "0000672390" "00023950" "90" "7494" "0" "7494" "0" "c.7494G>A" "r.(?)" "p.(Trp2498*)" "19" "" "0000672391" "00023950" "90" "7498" "0" "7498" "0" "c.7498dup" "r.(?)" "p.(Asp2500Glyfs*95)" "19" "" "0000672392" "00023950" "30" "7500" "0" "7500" "0" "c.7500C>T" "r.(?)" "p.(=)" "19" "" "0000672393" "00023950" "30" "7503" "0" "7503" "0" "c.7503G>A" "r.(?)" "p.(=)" "19" "" "0000672394" "00023950" "30" "7515" "0" "7515" "0" "c.7515C>T" "r.(?)" "p.(=)" "19" "" "0000672395" "00023950" "30" "7516" "0" "7516" "0" "c.7516G>A" "r.(?)" "p.(Ala2506Thr)" "19" "" "0000672396" "00023950" "30" "7531" "0" "7531" "0" "c.7531G>C" "r.(?)" "p.(Ala2511Pro)" "19" "" "0000672397" "00023950" "70" "7535" "0" "7535" "0" "c.7535T>G" "r.(?)" "p.(Leu2512Arg)" "19" "" "0000672398" "00023950" "90" "7540" "0" "7541" "0" "c.7540_7541ins12" "r.(?)" "p.?" "19" "" "0000672399" "00023950" "70" "7543" "0" "7548" "0" "c.7543_7548del" "r.(?)" "p.(Arg2515_Arg2516del)" "19" "" "0000672400" "00023950" "70" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "19" "" "0000672401" "00023950" "50" "7547" "0" "7547" "0" "c.7547G>A" "r.(?)" "p.(Arg2516His)" "19" "" "0000672402" "00023950" "90" "7555" "0" "7555" "0" "c.7555C>T" "r.(?)" "p.(Gln2519*)" "19" "" "0000672403" "00023950" "50" "7556" "0" "7556" "0" "c.7556A>T" "r.(?)" "p.(Gln2519Leu)" "19" "" "0000672404" "00023950" "30" "7566" "0" "7566" "0" "c.7566C>T" "r.(?)" "p.(=)" "19" "" "0000672405" "00023950" "90" "7567" "0" "7567" "0" "c.7567G>T" "r.(?)" "p.(Glu2523*)" "19" "" "0000672406" "00023950" "90" "7570" "0" "7570" "0" "c.7570G>T" "r.(?)" "p.(Glu2524*)" "19" "" "0000672407" "00023950" "30" "7575" "0" "7575" "0" "c.7575C>T" "r.(?)" "p.(=)" "19" "" "0000672408" "00023950" "30" "7581" "0" "7581" "0" "c.7581C>T" "r.(?)" "p.(=)" "19" "" "0000672409" "00023950" "90" "7584" "0" "7584" "0" "c.7584C>G" "r.(?)" "p.(Tyr2528*)" "19" "" "0000672410" "00023950" "70" "7589" "0" "7589" "0" "c.7589G>A" "r.(?)" "p.(Gly2530Asp)" "19" "" "0000672411" "00023950" "30" "7593" "0" "7593" "0" "c.7593C>T" "r.(?)" "p.(=)" "19" "" "0000672412" "00023950" "90" "7603" "0" "7698" "0" "c.7603_7698del" "r.(?)" "p.(Tyr2535_Leu2566del)" "19" "" "0000672413" "00023950" "30" "7605" "0" "7605" "0" "c.7605C>T" "r.(?)" "p.(=)" "19" "" "0000672414" "00023950" "90" "7622" "0" "7622" "0" "c.7622dup" "r.(?)" "p.(Arg2544Glnfs*51)" "19" "" "0000672415" "00023950" "30" "7623" "0" "7623" "0" "c.7623G>A" "r.(?)" "p.(=)" "19" "" "0000672416" "00023950" "30" "7636" "0" "7636" "0" "c.7636C>T" "r.(?)" "p.(His2546Tyr)" "19" "" "0000672417" "00023950" "30" "7637" "0" "7637" "0" "c.7637A>G" "r.(?)" "p.(His2546Arg)" "19" "" "0000672418" "00023950" "30" "7642" "0" "7642" "0" "c.7642G>C" "r.(?)" "p.(Glu2548Gln)" "19" "" "0000672419" "00023950" "90" "7656" "0" "7656" "0" "c.7656del" "r.(?)" "p.(Val2553Trpfs*67)" "19" "" "0000672420" "00023950" "90" "7666" "0" "7666" "0" "c.7666C>T" "r.(?)" "p.(Gln2556*)" "19" "" "0000672421" "00023950" "90" "7669" "0" "7681" "0" "c.7669_7681del" "r.(?)" "p.(Asp2557Profs*59)" "19" "" "0000672422" "00023950" "70" "7670" "0" "7670" "0" "c.7670A>G" "r.(?)" "p.(Asp2557Gly)" "19" "" "0000672423" "00023950" "90" "7672" "0" "7672" "0" "c.7672dup" "r.(?)" "p.(Gln2558Profs*37)" "19" "" "0000672424" "00023950" "90" "7672" "0" "7672" "0" "c.7672C>T" "r.(?)" "p.(Gln2558*)" "19" "" "0000672425" "00023950" "30" "7683" "0" "7683" "0" "c.7683C>T" "r.(?)" "p.(=)" "19" "" "0000672426" "00023950" "90" "7703" "1" "7703" "31" "c.7703+1_7703+31del" "r.spl" "p.?" "19_19i" "" "0000672427" "00023950" "90" "7703" "1" "7703" "1" "c.7703+1G>A" "r.spl" "p.?" "19i" "" "0000672428" "00023950" "90" "7703" "1" "7703" "1" "c.7703+1G>T" "r.spl" "p.?" "19i" "" "0000672429" "00023950" "30" "7703" "12" "7703" "12" "c.7703+12C>T" "r.(?)" "p.(=)" "19i" "" "0000672430" "00023950" "30" "7703" "23" "7703" "23" "c.7703+23G>A" "r.(?)" "p.(=)" "19i" "" "0000672431" "00023950" "30" "7703" "24" "7703" "24" "c.7703+24C>A" "r.(?)" "p.(=)" "19i" "" "0000672432" "00023950" "30" "7704" "-12" "7704" "-12" "c.7704-12C>T" "r.(?)" "p.(=)" "19i" "" "0000672433" "00023950" "90" "7704" "0" "7704" "0" "c.7704del" "r.(?)" "p.(Arg2568Serfs*52)" "20" "" "0000672434" "00023950" "70" "7706" "0" "7706" "0" "c.7706C>G" "r.(?)" "p.(Ser2569Cys)" "20" "" "0000672435" "00023950" "30" "7708" "0" "7708" "0" "c.7708T>C" "r.(?)" "p.(=)" "20" "" "0000672436" "00023950" "30" "7712" "0" "7712" "0" "c.7712C>T" "r.(?)" "p.(Ala2571Val)" "20" "" "0000672437" "00023950" "90" "7730" "0" "7737" "0" "c.7730_7737del" "r.(?)" "p.(Pro2577Glnfs*15)" "20" "" "0000672438" "00023950" "70" "7735" "0" "7737" "0" "c.7735_7737del" "r.(?)" "p.(Gly2579del)" "20" "" "0000672439" "00023950" "30" "7740" "0" "7740" "0" "c.7740C>T" "r.(?)" "p.(=)" "20" "" "0000672440" "00023950" "30" "7745" "0" "7745" "0" "c.7745C>T" "r.(?)" "p.(Thr2582Met)" "20" "" "0000672441" "00023950" "90" "7750" "0" "7750" "0" "c.7750del" "r.(?)" "p.(Leu2584Serfs*36)" "20" "" "0000672442" "00023950" "90" "7779" "0" "7780" "0" "c.7779_7780insC" "r.(?)" "p.(Ser2594Glnfs*67)" "20" "" "0000672443" "00023950" "30" "7789" "0" "7789" "0" "c.7789C>G" "r.(?)" "p.(Pro2597Ala)" "20" "" "0000672444" "00023950" "30" "7791" "0" "7791" "0" "c.7791A>G" "r.(?)" "p.(=)" "20" "" "0000672445" "00023950" "70" "7796" "0" "7796" "0" "c.7796T>G" "r.(?)" "p.(Leu2599Arg)" "20" "" "0000672446" "00023950" "90" "7804" "0" "7804" "0" "c.7804C>T" "r.(?)" "p.(Gln2602*)" "20" "" "0000672447" "00023950" "50" "7810" "0" "7810" "0" "c.7810G>A" "r.(?)" "p.(Asp2604Asn)" "20" "" "0000672448" "00023950" "30" "7813" "0" "7813" "0" "c.7813C>T" "r.(?)" "p.(Pro2605Ser)" "20" "" "0000672449" "00023950" "90" "7816" "0" "7816" "0" "c.7816C>T" "r.(?)" "p.(Gln2606*)" "20" "" "0000672450" "00023950" "90" "7821" "0" "7825" "0" "c.7821_7825del" "r.(?)" "p.(Val2608Argfs*51)" "20" "" "0000672451" "00023950" "90" "7821" "0" "7825" "0" "c.7821_7825del" "r.(?)" "p.(Val2608Argfs*51)" "20" "" "0000672452" "00023950" "70" "7825" "0" "7827" "0" "c.7825_7827del" "r.(?)" "p.(Ile2609del)" "20" "" "0000672453" "00023950" "90" "7833" "0" "7833" "0" "c.7833C>G" "r.(?)" "p.(Tyr2611*)" "20" "" "0000672454" "00023950" "50" "7835" "0" "7835" "0" "c.7835C>T" "r.(?)" "p.(Ser2612Leu)" "20" "" "0000672455" "00023950" "70" "7835" "0" "7835" "0" "c.7835C>G" "r.(?)" "p.(Ser2612Trp)" "20" "" "0000672456" "00023950" "70" "7837" "0" "7839" "0" "c.7837_7839del" "r.(?)" "p.(Leu2613del)" "20" "" "0000672457" "00023950" "30" "7837" "0" "7837" "0" "c.7837T>C" "r.(?)" "p.(=)" "20" "" "0000672458" "00023950" "30" "7854" "0" "7854" "0" "c.7854G>C" "r.(?)" "p.(=)" "20" "" "0000672459" "00023950" "70" "7856" "0" "7856" "0" "c.7856T>C" "r.(?)" "p.(Leu2619Pro)" "20" "" "0000672460" "00023950" "90" "7859" "0" "7863" "4" "c.7859_7863+4del" "r.spl" "p.?" "20_20i" "" "0000672461" "00023950" "90" "7863" "1" "7863" "1" "c.7863+1G>T" "r.spl" "p.?" "20i" "" "0000672462" "00023950" "30" "7863" "11" "7863" "11" "c.7863+11C>T" "r.(?)" "p.(=)" "20i" "" "0000672463" "00023950" "30" "7863" "16" "7863" "16" "c.7863+16G>C" "r.(?)" "p.(=)" "20i" "" "0000672464" "00023950" "30" "7863" "24" "7863" "24" "c.7863+24G>C" "r.(?)" "p.(=)" "20i" "" "0000672465" "00023950" "30" "7863" "47" "7863" "47" "c.7863+47T>G" "r.(?)" "p.(=)" "20i" "" "0000672466" "00023950" "30" "7863" "142" "7863" "142" "c.7863+142C>G" "r.(?)" "p.(=)" "20i" "" "0000672467" "00023950" "30" "7864" "-16" "7864" "-16" "c.7864-16C>G" "r.(?)" "p.(=)" "20i" "" "0000672468" "00023950" "30" "7864" "-16" "7864" "-16" "c.7864-16C>T" "r.(?)" "p.(=)" "20i" "" "0000672469" "00023950" "30" "7864" "-15" "7864" "-15" "c.7864-15C>G" "r.(?)" "p.(=)" "20i" "" "0000672470" "00023950" "90" "7864" "-2" "7864" "-2" "c.7864-2A>G" "r.spl" "p.?" "20i" "" "0000672471" "00023950" "90" "7864" "-1" "7864" "-1" "c.7864-1G>T" "r.spl" "p.?" "20i" "" "0000672472" "00023950" "30" "7866" "0" "7866" "0" "c.7866C>T" "r.(?)" "p.(=)" "21" "" "0000672473" "00023950" "90" "7866" "0" "7866" "0" "c.7866C>A" "r.(?)" "p.(Tyr2622*)" "21" "" "0000672474" "00023950" "90" "7871" "0" "7874" "0" "c.7871_7874del" "r.(?)" "p.(Arg2624Profs*29)" "21" "" "0000672475" "00023950" "30" "7882" "0" "7882" "0" "c.7882G>A" "r.(?)" "p.(Val2628Met)" "21" "" "0000672476" "00023950" "30" "7887" "0" "7887" "0" "c.7887G>A" "r.(?)" "p.(=)" "21" "" "0000672477" "00023950" "30" "7888" "0" "7888" "0" "c.7888G>A" "r.(?)" "p.(Ala2630Thr)" "21" "" "0000672478" "00023950" "90" "7909" "0" "7909" "0" "c.7909C>T" "r.(?)" "p.(Gln2637*)" "21" "" "0000672479" "00023950" "30" "7913" "0" "7913" "0" "c.7913A>G" "r.(?)" "p.(His2638Arg)" "21" "" "0000672480" "00023950" "90" "7896" "0" "7915" "0" "c.7896_7915dup" "r.(?)" "p.(Arg2639Profs*22)" "21" "" "0000672481" "00023950" "90" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639*)" "21" "" "0000672482" "00023950" "30" "7918" "0" "7918" "0" "c.7918G>C" "r.(?)" "p.(Ala2640Pro)" "21" "" "0000672483" "00023950" "90" "7921" "0" "7921" "0" "c.7921C>T" "r.(?)" "p.(Gln2641*)" "21" "" "0000672484" "00023950" "90" "7927" "0" "7927" "0" "c.7927del" "r.(?)" "p.(Arg2643Alafs*11)" "21" "" "0000672485" "00023950" "70" "7927" "0" "7927" "0" "c.7927C>T" "r.(?)" "p.(Arg2643Cys)" "21" "" "0000672486" "00023950" "50" "7937" "0" "7937" "0" "c.7937T>C" "r.(?)" "p.(Ile2646Thr)" "21" "" "0000672487" "00023950" "50" "7946" "0" "7946" "0" "c.7946C>T" "r.(?)" "p.(Thr2649Ile)" "21" "" "0000672488" "00023950" "90" "7948" "0" "7949" "0" "c.7948_7949del" "r.(?)" "p.(Leu2650Glyfs*10)" "21" "" "0000672489" "00023950" "30" "7960" "0" "7960" "0" "c.7960A>G" "r.(?)" "p.(Arg2654Gly)" "21" "" "0000672490" "00023950" "90" "7972" "0" "7979" "0" "c.7972_7979del" "r.(?)" "p.(Val2658Hisfs*161)" "21" "" "0000672491" "00023950" "90" "7976" "0" "7976" "0" "c.7976dup" "r.(?)" "p.(Asp2659Glufs*2)" "21" "" "0000672492" "00023950" "30" "7980" "0" "7980" "0" "c.7980C>T" "r.(?)" "p.(=)" "21" "" "0000672493" "00023950" "90" "7984" "0" "7984" "0" "c.7984C>T" "r.(?)" "p.(Gln2662*)" "21" "" "0000672494" "00023950" "90" "7987" "0" "7987" "0" "c.7987C>T" "r.(?)" "p.(Gln2663*)" "21" "" "0000672495" "00023950" "30" "7993" "0" "7993" "0" "c.7993G>A" "r.(?)" "p.(Ala2665Thr)" "21" "" "0000672496" "00023950" "90" "8008" "0" "8008" "0" "c.8008C>T" "r.(?)" "p.(Gln2670*)" "21" "" "0000672497" "00023950" "30" "8016" "13" "8016" "13" "c.8016+13del" "r.(?)" "p.(=)" "21i" "" "0000672498" "00023950" "30" "8016" "16" "8016" "16" "c.8016+16C>A" "r.(?)" "p.(=)" "21i" "" "0000672499" "00023950" "30" "8016" "26" "8016" "26" "c.8016+26T>C" "r.(?)" "p.(=)" "21i" "" "0000672500" "00023950" "30" "8016" "71" "8016" "71" "c.8016+71G>A" "r.(?)" "p.(=)" "21i" "" "0000672501" "00023950" "30" "8016" "77" "8016" "77" "c.8016+77C>T" "r.(?)" "p.(=)" "21i" "" "0000672502" "00023950" "30" "8017" "-44" "8017" "-44" "c.8017-44G>C" "r.(?)" "p.(=)" "21i" "" "0000672503" "00023950" "30" "8017" "-29" "8017" "-29" "c.8017-29C>T" "r.(?)" "p.(=)" "21i" "" "0000672504" "00023950" "90" "8017" "-2" "8017" "-2" "c.8017-2A>G" "r.spl" "p.?" "21i" "" "0000672505" "00023950" "90" "8017" "-2" "8017" "-1" "c.8017-2_8017-1del" "r.spl" "p.?" "21i" "" "0000672506" "00023950" "90" "8017" "-1" "8017" "-1" "c.8017-1G>C" "r.spl" "p.?" "21i" "" "0000672507" "00023950" "30" "8020" "0" "8020" "0" "c.8020C>T" "r.(?)" "p.(Pro2674Ser)" "22" "" "0000672508" "00023950" "30" "8037" "0" "8037" "0" "c.8037A>G" "r.(?)" "p.(=)" "22" "" "0000672509" "00023950" "50" "8045" "0" "8045" "0" "c.8045C>T" "r.(?)" "p.(Ser2682Leu)" "22" "" "0000672510" "00023950" "90" "8045" "0" "8045" "0" "c.8045C>A" "r.(?)" "p.(Ser2682*)" "22" "" "0000672511" "00023950" "30" "8046" "0" "8046" "0" "c.8046G>A" "r.(?)" "p.(=)" "22" "" "0000672512" "00023950" "90" "8039" "0" "8049" "0" "c.8039_8049dup" "r.(?)" "p.(Leu2684Alafs*5)" "Ex22" "" "0000672513" "00023950" "90" "8051" "0" "8052" "0" "c.8051_8052ins49" "r.(?)" "p.(Leu2684fs153*)" "22" "" "0000672514" "00023950" "90" "8056" "0" "8056" "0" "c.8056C>T" "r.(?)" "p.(Gln2686*)" "22" "" "0000672515" "00023950" "90" "8070" "0" "8070" "0" "c.8070del" "r.(?)" "p.(Lys2690Asnfs*5)" "22" "" "0000672516" "00023950" "30" "8087" "0" "8087" "0" "c.8087T>C" "r.(?)" "p.(Leu2696Pro)" "22" "" "0000672517" "00023950" "30" "8087" "0" "8087" "0" "c.8087T>G" "r.(?)" "p.(Leu2696Arg)" "22" "" "0000672518" "00023950" "70" "8087" "0" "8095" "0" "c.8087_8095dup" "r.(?)" "p.(Leu2696_Leu2698dup)" "22" "" "0000672519" "00023950" "90" "8095" "0" "8095" "0" "c.8095C>T" "r.(?)" "p.(Gln2699*)" "22" "" "0000672520" "00023950" "30" "8109" "0" "8109" "0" "c.8109C>T" "r.(?)" "p.(=)" "22" "" "0000672521" "00023950" "30" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "22" "" "0000672522" "00023950" "90" "8118" "0" "8127" "0" "c.8118_8127del" "r.(?)" "p.(Val2707Profs*46)" "22" "" "0000672523" "00023950" "30" "8123" "0" "8123" "0" "c.8123C>T" "r.(?)" "p.(Thr2708Met)" "22" "" "0000672524" "00023950" "90" "8124" "0" "8127" "0" "c.8124_8127del" "r.(?)" "p.(Thr2710Profs*45)" "22" "" "0000672525" "00023950" "70" "8129" "0" "8129" "0" "c.8129C>A" "r.(?)" "p.(Thr2710Asn)" "22" "" "0000672526" "00023950" "30" "8136" "0" "8136" "0" "c.8136C>T" "r.(?)" "p.(=)" "22" "" "0000672527" "00023950" "90" "8137" "0" "8137" "0" "c.8137G>T" "r.(?)" "p.(Gly2713*)" "22" "" "0000672528" "00023950" "50" "8138" "0" "8138" "0" "c.8138G>A" "r.(?)" "p.(Gly2713Glu)" "22" "" "0000672529" "00023950" "50" "8160" "0" "8160" "0" "c.8160A>G" "r.(?)" "p.(=)" "22" "" "0000672530" "00023950" "30" "8161" "8" "8161" "8" "c.8161+8G>A" "r.(?)" "p.(=)" "22i" "" "0000672531" "00023950" "30" "8161" "12" "8161" "12" "c.8161+12C>T" "r.(?)" "p.(=)" "22i" "" "0000672532" "00023950" "30" "8161" "21" "8161" "21" "c.8161+21T>C" "r.(?)" "p.(=)" "22i" "" "0000672533" "00023950" "30" "8161" "23" "8161" "23" "c.8161+23C>T" "r.(?)" "p.(=)" "22i" "" "0000672534" "00023950" "30" "8161" "24" "8161" "24" "c.8161+24C>G" "r.(?)" "p.(=)" "22i" "" "0000672535" "00023950" "30" "8161" "25" "8161" "25" "c.8161+25A>G" "r.(?)" "p.(=)" "22i" "" "0000672536" "00023950" "30" "8161" "29" "8161" "29" "c.8161+29G>A" "r.(?)" "p.(=)" "22i" "" "0000672537" "00023950" "30" "8161" "29" "8161" "46" "c.8161+29_8161+46del" "r.(?)" "p.(=)" "22i" "" "0000672538" "00023950" "30" "8161" "30" "8161" "30" "c.8161+30C>G" "r.(?)" "p.(=)" "22i" "" "0000672539" "00023950" "30" "8161" "31" "8161" "31" "c.8161+31C>T" "r.(?)" "p.(=)" "22i" "" "0000672540" "00023950" "30" "8161" "38" "8161" "38" "c.8161+38G>A" "r.(?)" "p.(=)" "22i" "" "0000672541" "00023950" "30" "8161" "39" "8161" "39" "c.8161+39T>C" "r.(?)" "p.(=)" "22i" "" "0000672542" "00023950" "30" "8161" "41" "8161" "41" "c.8161+41C>T" "r.(?)" "p.(=)" "22i" "" "0000672543" "00023950" "30" "8161" "42" "8161" "42" "c.8161+42G>C" "r.(?)" "p.(=)" "22i" "" "0000672544" "00023950" "30" "8161" "46" "8161" "47" "c.8161+46_8161+47ins18" "r.(?)" "p.(=)" "22i" "" "0000672545" "00023950" "30" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(=)" "23" "" "0000672546" "00023950" "30" "8187" "0" "8187" "0" "c.8187G>A" "r.(?)" "p.(=)" "23" "" "0000672547" "00023950" "90" "8162" "-1" "8197" "0" "c.8162-1_8197dup" "r.(?)" "p.?" "23" "" "0000672548" "00023950" "30" "8200" "0" "8200" "0" "c.8200C>A" "r.(?)" "p.(Pro2734Thr)" "23" "" "0000672549" "00023950" "90" "8203" "0" "8203" "0" "c.8203C>T" "r.(?)" "p.(Gln2735*)" "23" "" "0000672550" "00023950" "30" "8204" "0" "8204" "0" "c.8204A>T" "r.(?)" "p.(Gln2735Leu)" "23" "" "0000672551" "00023950" "90" "8213" "0" "8214" "0" "c.8213_8214del" "r.(?)" "p.(Glu2738Alafs*83)" "23" "" "0000672552" "00023950" "30" "8217" "0" "8217" "0" "c.8217G>C" "r.(?)" "p.(=)" "23" "" "0000672553" "00023950" "30" "8223" "0" "8223" "0" "c.8223C>T" "r.(?)" "p.(=)" "23" "" "0000672554" "00023950" "30" "8224" "0" "8224" "0" "c.8224G>A" "r.(?)" "p.(Glu2742Lys)" "23" "" "0000672555" "00023950" "30" "8235" "0" "8235" "0" "c.[8235T>G;8279T>C;8282G>C;8291T>C;8477T>C]" "r.(?)" "p.[(Met2760Thr);(Arg2761Pro);(Met2764Thr);(Ile2826Thr)]" "23" "" "0000672556" "00023950" "70" "8235" "0" "8235" "0" "c.[8235T>G;8279T>C;8282G>C;8287G>C;8291T>C]" "r.(?)" "p.[(Met2760Thr);(Arg2761Pro);(Leu2763Val);(Met2764Thr)]" "23" "" "0000672557" "00023950" "50" "8237" "0" "8237" "0" "c.8237G>A" "r.(?)" "p.(Arg2746Gln)" "23" "" "0000672558" "00023950" "30" "8247" "0" "8247" "0" "c.8247G>A" "r.(?)" "p.(=)" "23" "" "0000672559" "00023950" "70" "8255" "0" "8255" "0" "c.8255C>A" "r.(?)" "p.(Ala2752Asp)" "23" "" "0000672560" "00023950" "90" "8257" "0" "8260" "0" "c.8257_8260del" "r.(?)" "p.(Tyr2753Thrfs*2)" "23" "" "0000672561" "00023950" "90" "8259" "0" "8259" "0" "c.8259C>G" "r.(?)" "p.(Tyr2753*)" "23" "" "0000672562" "00023950" "30" "8262" "0" "8262" "0" "c.8262C>A" "r.(?)" "p.(Asn2754Lys)" "23" "" "0000672563" "00023950" "30" "8282" "0" "8282" "0" "c.8282G>A" "r.(?)" "p.(Arg2761His)" "23" "" "0000672564" "00023950" "90" "8284" "0" "8295" "0" "c.8284_8295del" "r.(?)" "p.(Ile2762_Arg2765del)" "23" "" "0000672565" "00023950" "70" "8287" "0" "8289" "0" "c.8287_8289del" "r.(?)" "p.(Leu2763del)" "23" "" "0000672566" "00023950" "50" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "23" "" "0000672567" "00023950" "90" "8284" "0" "8295" "0" "c.8284_8295dup" "r.(?)" "p.(Ile2762_Arg2765dup)" "23" "" "0000672568" "00023950" "30" "8298" "0" "8298" "0" "c.8298C>G" "r.(?)" "p.(=)" "23" "" "0000672569" "00023950" "30" "8298" "0" "8298" "0" "c.8298C>T" "r.(?)" "p.(=)" "23" "" "0000672570" "00023950" "70" "8299" "0" "8299" "0" "c.8299C>T" "r.(?)" "p.(Arg2767Cys)" "23" "" "0000672571" "00023950" "50" "8300" "0" "8300" "0" "c.8300G>A" "r.(?)" "p.(Arg2767His)" "23" "" "0000672572" "00023950" "70" "8300" "0" "8300" "0" "c.8300G>C" "r.(?)" "p.(Arg2767Pro)" "23" "" "0000672573" "00023950" "50" "8302" "0" "8302" "0" "c.8302G>A" "r.(?)" "p.(Val2768Met)" "23" "" "0000672574" "00023950" "50" "8305" "0" "8305" "0" "c.8305C>T" "r.(?)" "p.(Leu2769Phe)" "23" "" "0000672575" "00023950" "90" "8308" "0" "8311" "0" "c.8308_8311delinsCTCGTT" "r.(?)" "p.(Asn2770Leufs*6)" "23" "" "0000672576" "00023950" "70" "8309" "0" "8309" "0" "c.8309A>T" "r.(?)" "p.(Asn2770Ile)" "23" "" "0000672577" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000672578" "00023950" "90" "8320" "0" "8320" "0" "c.8320del" "r.(?)" "p.(Leu2774*)" "23" "" "0000672579" "00023950" "90" "8320" "0" "8321" "0" "c.8320_8321del" "r.(?)" "p.(Leu2774Aspfs*47)" "23" "" "0000672580" "00023950" "70" "8321" "0" "8321" "0" "c.8321T>C" "r.(?)" "p.(Leu2774Pro)" "23" "" "0000672581" "00023950" "30" "8331" "0" "8331" "0" "c.8331G>A" "r.(?)" "p.(=)" "23" "" "0000672582" "00023950" "90" "8332" "0" "8335" "0" "c.8332_8335del" "r.(?)" "p.(Gly2778Argfs*96)" "23" "" "0000672583" "00023950" "30" "8334" "0" "8334" "0" "c.8334C>T" "r.(?)" "p.(=)" "23" "" "0000672584" "00023950" "30" "8335" "0" "8335" "0" "c.8335G>A" "r.(?)" "p.(Glu2779Lys)" "23" "" "0000672585" "00023950" "30" "8344" "0" "8344" "0" "c.8344G>A" "r.(?)" "p.(Val2782Met)" "23" "" "0000672586" "00023950" "90" "8350" "0" "8350" "0" "c.8350C>T" "r.(?)" "p.(Gln2784*)" "23" "" "0000672587" "00023950" "70" "8354" "0" "8354" "0" "c.8354G>A" "r.(?)" "p.(Gly2785Asp)" "23" "" "0000672588" "00023950" "50" "8360" "0" "8360" "0" "c.8360G>A" "r.(?)" "p.(Arg2787His)" "23" "" "0000672589" "00023950" "50" "8363" "0" "8363" "0" "c.8363C>T" "r.(?)" "p.(Ser2788Leu)" "23" "" "0000672590" "00023950" "70" "8363" "0" "8363" "0" "c.8363C>G" "r.(?)" "p.(Ser2788Trp)" "23" "" "0000672591" "00023950" "30" "8364" "0" "8364" "0" "c.8364G>A" "r.(?)" "p.(=)" "23" "" "0000672592" "00023950" "30" "8367" "0" "8367" "0" "c.8367C>T" "r.(?)" "p.(=)" "23" "" "0000672593" "00023950" "30" "8371" "0" "8371" "0" "c.8371C>T" "r.(?)" "p.(Arg2791Trp)" "23" "" "0000672594" "00023950" "30" "8372" "0" "8372" "0" "c.8372G>A" "r.(?)" "p.(Arg2791Gln)" "23" "" "0000672595" "00023950" "90" "8388" "0" "8388" "0" "c.8388T>A" "r.(?)" "p.(Tyr2796*)" "23" "" "0000672596" "00023950" "50" "8392" "0" "8392" "0" "c.8392G>T" "r.(?)" "p.(Gly2798Cys)" "23" "" "0000672597" "00023950" "70" "8404" "0" "8404" "0" "c.8404C>T" "r.(?)" "p.(Pro2802Ser)" "23" "" "0000672598" "00023950" "70" "8426" "0" "8426" "0" "c.8426C>T" "r.(?)" "p.(Pro2809Leu)" "23" "" "0000672599" "00023950" "90" "8428" "0" "8428" "0" "c.8428G>T" "r.(?)" "p.(Glu2810*)" "23" "" "0000672600" "00023950" "30" "8439" "0" "8439" "0" "c.8439C>T" "r.(?)" "p.(=)" "23" "" "0000672601" "00023950" "30" "8440" "0" "8440" "0" "c.8440G>A" "r.(?)" "p.(Gly2814Arg)" "23" "" "0000672602" "00023950" "30" "8444" "0" "8444" "0" "c.8444C>T" "r.(?)" "p.(Ala2815Val)" "23" "" "0000672603" "00023950" "90" "8446" "0" "8446" "0" "c.8446del" "r.(?)" "p.(Leu2816Trpfs*59)" "23" "" "0000672604" "00023950" "70" "8447" "0" "8447" "0" "c.8447T>C" "r.(?)" "p.(Leu2816Pro)" "23" "" "0000672605" "00023950" "70" "8447" "0" "8447" "0" "c.8447T>A" "r.(?)" "p.(Leu2816Gln)" "23" "" "0000672606" "00023950" "30" "8451" "0" "8451" "0" "c.8451C>T" "r.(?)" "p.(=)" "23" "" "0000672607" "00023950" "50" "8464" "0" "8464" "0" "c.8464G>A" "r.(?)" "p.(Val2822Met)" "23" "" "0000672608" "00023950" "30" "8473" "0" "8473" "0" "c.8473C>T" "r.(?)" "p.(Leu2825Phe)" "23" "" "0000672609" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000672610" "00023950" "70" "8497" "0" "8497" "0" "c.8497C>T" "r.(?)" "p.(Pro2833Ser)" "23" "" "0000672611" "00023950" "70" "8498" "0" "8498" "0" "c.8498C>G" "r.(?)" "p.(Pro2833Arg)" "23" "" "0000672612" "00023950" "30" "8499" "0" "8499" "0" "c.8499C>T" "r.(?)" "p.(=)" "23" "" "0000672613" "00023950" "90" "8502" "0" "8502" "0" "c.8502del" "r.(?)" "p.(Phe2836Leufs*39)" "23" "" "0000672614" "00023950" "30" "8529" "0" "8529" "0" "c.8529C>T" "r.(?)" "p.(=)" "23" "" "0000672615" "00023950" "30" "8535" "0" "8535" "0" "c.8535C>G" "r.(?)" "p.(=)" "23" "" "0000672616" "00023950" "70" "8537" "0" "8537" "0" "c.8537C>T" "r.(?)" "p.(Thr2846Ile)" "23" "" "0000672617" "00023950" "50" "8545" "0" "8545" "0" "c.8545G>C" "r.(?)" "p.(Ala2849Pro)" "23" "" "0000672618" "00023950" "30" "8550" "0" "8550" "0" "c.8550G>A" "r.(?)" "p.(=)" "23" "" "0000672619" "00023950" "70" "8557" "0" "8562" "0" "c.8557_8562del" "r.(?)" "p.(Phe2853_Gln2854del)" "23" "" "0000672620" "00023950" "70" "8558" "0" "8558" "0" "c.8558T>C" "r.(?)" "p.(Phe2853Ser)" "23" "" "0000672621" "00023950" "30" "8559" "0" "8559" "0" "c.8559C>T" "r.(?)" "p.(=)" "23" "" "0000672622" "00023950" "90" "8560" "0" "8560" "0" "c.8560C>T" "r.(?)" "p.(Gln2854*)" "23" "" "0000672623" "00023950" "70" "8572" "0" "8572" "0" "c.8572G>A" "r.(?)" "p.(Gly2858Ser)" "23" "" "0000672624" "00023950" "90" "8585" "0" "8586" "0" "c.8585_8586dup" "r.(?)" "p.(Ile2863Profs*13)" "23" "" "0000672625" "00023950" "90" "8586" "0" "8586" "0" "c.8586del" "r.(?)" "p.(Ile2863Serfs*12)" "23" "" "0000672626" "00023950" "30" "8593" "0" "8593" "0" "c.8593C>T" "r.(?)" "p.(Arg2865Trp)" "23" "" "0000672627" "00023950" "30" "8595" "0" "8595" "0" "c.8595G>A" "r.(?)" "p.(=)" "23" "" "0000672628" "00023950" "70" "8597" "0" "8597" "0" "c.8597T>C" "r.(?)" "p.(Leu2866Pro)" "23" "" "0000672629" "00023950" "90" "8603" "0" "8603" "0" "c.8603C>A" "r.(?)" "p.(Ser2868*)" "23" "" "0000672630" "00023950" "90" "8604" "0" "8605" "0" "c.8604_8605insTT" "r.(?)" "p.(Glu2869Leufs*7)" "23" "" "0000672631" "00023950" "90" "8606" "0" "8607" "0" "c.8606_8607del" "r.(?)" "p.(Glu2869Alafs*67)" "23" "" "0000672632" "00023950" "30" "8609" "0" "8609" "0" "c.8609G>A" "r.(?)" "p.(Arg2870His)" "23" "" "0000672633" "00023950" "90" "8614" "0" "8614" "0" "c.8614del" "r.(?)" "p.(Ile2872Serfs*3)" "23" "" "0000672634" "00023950" "70" "8615" "0" "8615" "0" "c.8615T>G" "r.(?)" "p.(Ile2872Ser)" "23" "" "0000672635" "00023950" "90" "8617" "0" "8617" "0" "c.8617del" "r.(?)" "p.(Thr2873Profs*2)" "23" "" "0000672636" "00023950" "30" "8620" "0" "8620" "0" "c.8620G>A" "r.(?)" "p.(Val2874Met)" "23" "" "0000672637" "00023950" "70" "8639" "0" "8639" "0" "c.8639C>T" "r.(?)" "p.(Ser2880Leu)" "23" "" "0000672638" "00023950" "30" "8644" "0" "8644" "0" "c.8644T>A" "r.(?)" "p.(Trp2882Arg)" "23" "" "0000672639" "00023950" "90" "8657" "0" "8657" "0" "c.8657del" "r.(?)" "p.(Gly2886Alafs*108)" "23" "" "0000672640" "00023950" "30" "8662" "0" "8662" "0" "c.8662C>G" "r.(?)" "p.(Arg2888Gly)" "23" "" "0000672641" "00023950" "30" "8666" "0" "8666" "0" "c.8666G>A" "r.(?)" "p.(Ser2889Asn)" "23" "" "0000672642" "00023950" "50" "8666" "0" "8674" "0" "c.8666_8674del" "r.(?)" "p.(Ser2889_Ala2891del)" "23" "" "0000672643" "00023950" "30" "8667" "0" "8667" "0" "c.8667C>G" "r.(?)" "p.(Ser2889Arg)" "23" "" "0000672644" "00023950" "30" "8670" "0" "8670" "0" "c.8670C>T" "r.(?)" "p.(=)" "23" "" "0000672645" "00023950" "30" "8679" "0" "8679" "0" "c.8679C>G" "r.(?)" "p.(=)" "23" "" "0000672646" "00023950" "90" "8679" "0" "8679" "0" "c.8679del" "r.(?)" "p.(Ala2894Profs*100)" "23" "" "0000672647" "00023950" "30" "8681" "0" "8689" "0" "c.8681_8689del" "r.(?)" "p.(Ala2894_Ser2896del)" "23" "" "0000672648" "00023950" "30" "8689" "0" "8689" "0" "c.8689G>A" "r.(?)" "p.(Val2897Ile)" "23" "" "0000672649" "00023950" "90" "8698" "0" "8698" "0" "c.8698C>T" "r.(?)" "p.(Gln2900*)" "23" "" "0000672650" "00023950" "50" "8702" "0" "8702" "0" "c.8702C>T" "r.(?)" "p.(Pro2901Leu)" "23" "" "0000672651" "00023950" "90" "8712" "0" "8712" "0" "c.8712dup" "r.(?)" "p.(Val2905Argfs*32)" "23" "" "0000672652" "00023950" "30" "8713" "0" "8713" "0" "c.8713G>A" "r.(?)" "p.(Val2905Ile)" "23" "" "0000672653" "00023950" "30" "8716" "0" "8716" "0" "c.8716G>A" "r.(?)" "p.(Gly2906Ser)" "23" "" "0000672654" "00023950" "30" "8750" "0" "8750" "0" "c.8750C>T" "r.(?)" "p.(Ala2917Val)" "23" "" "0000672655" "00023950" "30" "8751" "0" "8751" "0" "c.8751G>A" "r.(?)" "p.(=)" "23" "" "0000672656" "00023950" "50" "8755" "0" "8755" "0" "c.8755G>A" "r.(?)" "p.(Gly2919Arg)" "23" "" "0000672657" "00023950" "70" "8756" "0" "8756" "0" "c.8756G>T" "r.(?)" "p.(Gly2919Val)" "23" "" "0000672658" "00023950" "70" "8762" "0" "8762" "0" "c.8762A>C" "r.(?)" "p.(His2921Pro)" "23" "" "0000672659" "00023950" "90" "8767" "0" "8767" "0" "c.8767C>T" "r.(?)" "p.(Gln2923*)" "23" "" "0000672660" "00023950" "90" "8772" "0" "8776" "0" "c.8772_8776del" "r.(?)" "p.(Asn2925Tyrfs*10)" "23" "" "0000672661" "00023950" "30" "8780" "0" "8780" "0" "c.8780C>T" "r.(?)" "p.(Thr2927Met)" "23" "" "0000672662" "00023950" "90" "8786" "0" "8787" "0" "c.8786_8787ins24" "r.(?)" "p.?" "23" "" "0000672663" "00023950" "70" "8791" "5" "8791" "5" "c.8791+5G>C" "r.spl?" "p.?" "23i" "" "0000672664" "00023950" "30" "8791" "12" "8791" "12" "c.8791+12G>A" "r.(?)" "p.(=)" "23i" "" "0000672665" "00023950" "30" "8791" "25" "8791" "25" "c.8791+25G>A" "r.(?)" "p.(=)" "23i" "" "0000672666" "00023950" "30" "8791" "27" "8791" "27" "c.8791+27G>A" "r.(?)" "p.(=)" "23i" "" "0000672667" "00023950" "30" "8791" "59" "8791" "59" "c.8791+59T>C" "r.(?)" "p.(=)" "23i" "" "0000672668" "00023950" "30" "8792" "-87" "8792" "-87" "c.8792-87dup" "r.(?)" "p.(=)" "23i" "" "0000672669" "00023950" "30" "8792" "-34" "8792" "-34" "c.8792-34C>A" "r.(?)" "p.(=)" "23i" "" "0000672670" "00023950" "30" "8792" "-32" "8792" "-32" "c.8792-32G>A" "r.(?)" "p.(=)" "23i" "" "0000672671" "00023950" "30" "8792" "-14" "8792" "-14" "c.8792-14G>A" "r.(?)" "p.(=)" "23i" "" "0000672672" "00023950" "90" "8792" "-2" "8792" "-2" "c.8792-2A>G" "r.spl" "p.?" "23i" "" "0000672673" "00023950" "90" "8792" "-1" "8792" "-1" "c.8792-1G>C" "r.spl" "p.?" "23i" "" "0000672674" "00023950" "90" "8799" "0" "8799" "0" "c.8799C>G" "r.(?)" "p.(Tyr2933*)" "24" "" "0000672675" "00023950" "50" "8804" "0" "8804" "0" "c.8804C>T" "r.(?)" "p.(Ser2935Phe)" "24" "" "0000672676" "00023950" "70" "8819" "0" "8819" "0" "c.8819C>T" "r.(?)" "p.(Pro2940Leu)" "24" "" "0000672677" "00023950" "90" "8822" "0" "8825" "0" "c.8822_8825del" "r.(?)" "p.(Tyr2941Trpfs*52)" "24" "" "0000672678" "00023950" "30" "8823" "0" "8823" "0" "c.8823C>T" "r.(?)" "p.(=)" "24" "" "0000672679" "00023950" "90" "8823" "0" "8823" "0" "c.8823C>A" "r.(?)" "p.(Tyr2941*)" "24" "" "0000672680" "00023950" "70" "8825" "0" "8825" "0" "c.8825T>C" "r.(?)" "p.(Leu2942Pro)" "24" "" "0000672681" "00023950" "70" "8825" "0" "8825" "0" "c.8825T>A" "r.(?)" "p.(Leu2942Gln)" "24" "" "0000672682" "00023950" "70" "8834" "0" "8834" "0" "c.8834A>G" "r.(?)" "p.(Tyr2945Cys)" "24" "" "0000672683" "00023950" "90" "8843" "0" "8843" "0" "c.8843C>A" "r.(?)" "p.(Ser2948*)" "24" "" "0000672684" "00023950" "30" "8850" "0" "8850" "0" "c.8850C>T" "r.(?)" "p.(=)" "24" "" "0000672685" "00023950" "30" "8873" "0" "8873" "0" "c.8873C>T" "r.(?)" "p.(Ser2958Leu)" "24" "" "0000672686" "00023950" "30" "8874" "0" "8874" "0" "c.8874G>A" "r.(?)" "p.(=)" "24" "" "0000672687" "00023950" "30" "8898" "0" "8898" "0" "c.8898G>C" "r.(?)" "p.(Glu2966Asp)" "24" "" "0000672688" "00023950" "90" "8905" "0" "8905" "0" "c.8905C>T" "r.(?)" "p.(Gln2969*)" "24" "" "0000672689" "00023950" "30" "8913" "0" "8913" "0" "c.8913T>C" "r.(?)" "p.(=)" "24" "" "0000672690" "00023950" "30" "8914" "0" "8914" "0" "c.8914G>A" "r.(?)" "p.(Asp2972Asn)" "24" "" "0000672691" "00023950" "30" "8916" "0" "8916" "0" "c.8916C>T" "r.(?)" "p.(=)" "24" "" "0000672692" "00023950" "50" "8918" "0" "8918" "0" "c.8918A>G" "r.(?)" "p.(His2973Arg)" "24" "" "0000672693" "00023950" "70" "8920" "0" "8920" "0" "c.8920C>T" "r.(?)" "p.(Arg2974Trp)" "24" "" "0000672694" "00023950" "30" "8921" "0" "8921" "0" "c.8921G>A" "r.(?)" "p.(Arg2974Gln)" "24" "" "0000672695" "00023950" "90" "8923" "0" "8924" "0" "c.8923_8924insT" "r.(?)" "p.(Pro2975Leufs*94)" "24" "" "0000672696" "00023950" "70" "8930" "0" "8930" "0" "c.8930C>T" "r.(?)" "p.(Thr2977Ile)" "24" "" "0000672697" "00023950" "50" "8930" "0" "8930" "0" "c.8930C>A" "r.(?)" "p.(Thr2977Asn)" "24" "" "0000672698" "00023950" "70" "8932" "0" "8933" "0" "c.8932_8933delinsAC" "r.(?)" "p.(Phe2978Thr)" "24" "" "0000672699" "00023950" "70" "8933" "0" "8933" "0" "c.8933T>G" "r.(?)" "p.(Phe2978Cys)" "24" "" "0000672700" "00023950" "70" "8933" "0" "8933" "0" "c.8933T>C" "r.(?)" "p.(Phe2978Ser)" "24" "" "0000672701" "00023950" "70" "8935" "0" "8937" "0" "c.8935_8937del" "r.(?)" "p.(Phe2979del)" "24" "" "0000672702" "00023950" "90" "8948" "1" "8948" "1" "c.8948+1G>T" "r.spl" "p.?" "24i" "" "0000672703" "00023950" "70" "8948" "5" "8948" "5" "c.8948+5G>C" "r.spl?" "p.?" "24i" "" "0000672704" "00023950" "30" "8948" "11" "8948" "11" "c.8948+11C>T" "r.(?)" "p.(=)" "24i" "" "0000672705" "00023950" "30" "8948" "12" "8948" "12" "c.8948+12G>A" "r.(?)" "p.(=)" "24i" "" "0000672706" "00023950" "30" "8948" "17" "8948" "17" "c.8948+17A>G" "r.(?)" "p.(=)" "24i" "" "0000672707" "00023950" "30" "8948" "28" "8948" "28" "c.8948+28G>T" "r.(?)" "p.(=)" "24i" "" "0000672708" "00023950" "30" "8948" "34" "8948" "34" "c.8948+34C>T" "r.(?)" "p.(=)" "24i" "" "0000672709" "00023950" "30" "8948" "80" "8948" "80" "c.8948+80A>G" "r.(?)" "p.(=)" "24i" "" "0000672710" "00023950" "30" "8949" "-54" "8949" "-54" "c.8949-54G>A" "r.(?)" "p.(=)" "24i" "" "0000672711" "00023950" "90" "8949" "-1" "10050" "1" "c.(8948+1_8949-1)_(10050+1_10051-1)del" "r.spl" "p.?" "24i_30i" "" "0000672712" "00023950" "30" "8949" "-20" "8949" "-20" "c.8949-20G>A" "r.(?)" "p.(=)" "24i" "" "0000672713" "00023950" "30" "8949" "-17" "8949" "-17" "c.8949-17A>G" "r.(?)" "p.(=)" "24i" "" "0000672714" "00023950" "30" "8949" "-15" "8949" "-15" "c.8949-15C>G" "r.(?)" "p.(=)" "24i" "" "0000672715" "00023950" "30" "8949" "0" "8949" "0" "c.8949G>A" "r.(?)" "p.(=)" "25" "" "0000672716" "00023950" "30" "8953" "0" "8953" "0" "c.8953A>G" "r.(?)" "p.(Arg2985Gly)" "25" "" "0000672717" "00023950" "50" "8963" "0" "8963" "0" "c.8963C>T" "r.(?)" "p.(Ala2988Val)" "25" "" "0000672718" "00023950" "30" "8964" "0" "8964" "0" "c.8964G>A" "r.(?)" "p.(=)" "25" "" "0000672719" "00023950" "90" "8972" "0" "8972" "0" "c.8972dup" "r.(?)" "p.(Tyr2991*)" "25" "" "0000672720" "00023950" "90" "8973" "0" "8973" "0" "c.8973C>G" "r.(?)" "p.(Tyr2991*)" "25" "" "0000672721" "00023950" "70" "8978" "0" "8978" "0" "c.8978T>C" "r.(?)" "p.(Leu2993Pro)" "25" "" "0000672722" "00023950" "70" "8984" "0" "8984" "0" "c.8984T>G" "r.(?)" "p.(Leu2995Arg)" "25" "" "0000672723" "00023950" "30" "8985" "0" "8985" "0" "c.8985C>A" "r.(?)" "p.(=)" "25" "" "0000672724" "00023950" "70" "8990" "0" "8990" "0" "c.8990G>T" "r.(?)" "p.(Ser2997Ile)" "25" "" "0000672725" "00023950" "50" "8998" "0" "8998" "0" "c.8998C>T" "r.(?)" "p.(Arg3000Cys)" "25" "" "0000672726" "00023950" "30" "8998" "0" "8998" "0" "c.8998C>G" "r.(?)" "p.(Arg3000Gly)" "25" "" "0000672727" "00023950" "90" "9002" "0" "9002" "0" "c.9002G>A" "r.(?)" "p.(Trp3001*)" "25" "" "0000672728" "00023950" "30" "9010" "0" "9010" "0" "c.9010C>T" "r.(?)" "p.(=)" "25" "" "0000672729" "00023950" "50" "9011" "0" "9011" "0" "c.9011T>C" "r.(?)" "p.(Leu3004Pro)" "25" "" "0000672730" "00023950" "90" "9013" "0" "9013" "0" "c.9013C>T" "r.(?)" "p.(Gln3005*)" "25" "" "0000672731" "00023950" "70" "9019" "0" "9019" "0" "c.9019T>C" "r.(?)" "p.(Ser3007Pro)" "25" "" "0000672732" "00023950" "30" "9021" "0" "9021" "0" "c.9021C>T" "r.(?)" "p.(=)" "25" "" "0000672733" "00023950" "30" "9022" "0" "9022" "0" "c.9022G>C" "r.(?)" "p.(Val3008Leu)" "25" "" "0000672734" "00023950" "30" "9022" "0" "9022" "0" "c.9022G>A" "r.(?)" "p.(Val3008Met)" "25" "" "0000672735" "00023950" "90" "9034" "0" "9051" "0" "c.9034_9051del" "r.(?)" "p.(Thr3012_Tyr3017del)" "25" "" "0000672736" "00023950" "50" "9035" "0" "9035" "0" "c.9035C>T" "r.(?)" "p.(Thr3012Met)" "25" "" "0000672737" "00023950" "90" "9022" "0" "9039" "0" "c.9022_9039dup" "r.(?)" "p.(Val3008_Ser3013dup)" "25" "" "0000672738" "00023950" "70" "9044" "0" "9044" "0" "c.9044G>A" "r.(?)" "p.(Cys3015Tyr)" "25" "" "0000672739" "00023950" "70" "9045" "0" "9045" "0" "c.9045C>G" "r.(?)" "p.(Cys3015Trp)" "25" "" "0000672740" "00023950" "70" "9047" "0" "9047" "0" "c.9047A>G" "r.(?)" "p.(Gln3016Arg)" "25" "" "0000672741" "00023950" "70" "9053" "0" "9053" "0" "c.9053T>C" "r.(?)" "p.(Phe3018Ser)" "25" "" "0000672742" "00023950" "30" "9057" "0" "9057" "0" "c.9057C>T" "r.(?)" "p.(=)" "25" "" "0000672743" "00023950" "90" "9058" "0" "9058" "0" "c.9058G>T" "r.(?)" "p.(Glu3020*)" "25" "" "0000672744" "00023950" "30" "9068" "0" "9068" "0" "c.9068T>A" "r.(?)" "p.(Met3023Lys)" "25" "" "0000672745" "00023950" "90" "9083" "0" "9121" "0" "c.9083_9121del" "r.(?)" "p.(Glu3028_Gln3040del)" "25" "" "0000672746" "00023950" "90" "9083" "0" "9084" "0" "c.9083_9084del" "r.(?)" "p.(Glu3028Glyfs*40)" "25" "" "0000672747" "00023950" "90" "9088" "0" "9088" "0" "c.9088del" "r.(?)" "p.(Leu3030Cysfs*44)" "25" "" "0000672748" "00023950" "70" "9107" "0" "9107" "0" "c.9107C>T" "r.(?)" "p.(Thr3036Ile)" "25" "" "0000672749" "00023950" "90" "9110" "0" "9110" "0" "c.9110C>A" "r.(?)" "p.(Ser3037*)" "25" "" "0000672750" "00023950" "30" "9111" "0" "9111" "0" "c.9111G>A" "r.(?)" "p.(=)" "25" "" "0000672751" "00023950" "90" "9111" "0" "9132" "0" "c.9111_9132del" "r.(?)" "p.(Arg3039Alafs*28)" "25" "" "0000672752" "00023950" "70" "9115" "0" "9115" "0" "c.9115C>T" "r.(?)" "p.(Arg3039Cys)" "25" "" "0000672753" "00023950" "90" "9127" "0" "9127" "0" "c.9127del" "r.(?)" "p.(Cys3043Alafs*31)" "25" "" "0000672754" "00023950" "90" "9148" "0" "9148" "0" "c.9148dup" "r.(?)" "p.(Ala3050Glyfs*19)" "25" "" "0000672755" "00023950" "70" "9154" "0" "9154" "0" "c.9154G>C" "r.(?)" "p.(Gly3052Arg)" "25" "" "0000672756" "00023950" "30" "9154" "0" "9154" "0" "c.9154G>A" "r.(?)" "p.(Gly3052Ser)" "25" "" "0000672757" "00023950" "50" "9155" "0" "9155" "0" "c.9155G>T" "r.(?)" "p.(Gly3052Val)" "25" "" "0000672758" "00023950" "30" "9156" "0" "9156" "0" "c.9156C>T" "r.(?)" "p.(=)" "25" "" "0000672759" "00023950" "30" "9169" "0" "9169" "0" "c.9169G>A" "r.(?)" "p.(Val3057Met)" "25" "" "0000672760" "00023950" "30" "9186" "0" "9186" "0" "c.9186C>A" "r.(?)" "p.(=)" "25" "" "0000672761" "00023950" "30" "9187" "0" "9187" "0" "c.9187C>T" "r.(?)" "p.(Arg3063Cys)" "25" "" "0000672762" "00023950" "50" "9188" "0" "9188" "0" "c.9188G>C" "r.(?)" "p.(Arg3063Pro)" "25" "" "0000672763" "00023950" "30" "9195" "0" "9196" "0" "c.9195_9196delinsCC" "r.(?)" "p.(Phe3066Leu)" "25" "" "0000672764" "00023950" "90" "9201" "1" "9201" "1" "c.9201+1G>C" "r.spl" "p.?" "25i" "" "0000672765" "00023950" "90" "9201" "1" "9201" "1" "c.9201+1G>T" "r.spl" "p.?" "25i" "" "0000672766" "00023950" "70" "9201" "6" "9201" "6" "c.9201+6T>C" "r.spl" "p.(=)" "25i" "" "0000672767" "00023950" "70" "9202" "-16" "9202" "-16" "c.9202-16G>A" "r.spl" "p.(=)" "25i" "" "0000672768" "00023950" "90" "9202" "-2" "9202" "-2" "c.9202-2A>G" "r.spl" "p.?" "25i" "" "0000672769" "00023950" "90" "9202" "-1" "9202" "-1" "c.9202-1G>A" "r.spl" "p.?" "25i" "" "0000672770" "00023950" "30" "9202" "0" "9202" "0" "c.9202G>C" "r.(?)" "p.(Glu3068Gln)" "26" "" "0000672771" "00023950" "50" "9204" "0" "9204" "0" "c.9204G>C" "r.(?)" "p.(Glu3068Asp)" "26" "" "0000672772" "00023950" "50" "9206" "0" "9206" "0" "c.9206C>T" "r.(?)" "p.(Pro3069Leu)" "26" "" "0000672773" "00023950" "30" "9213" "0" "9213" "0" "c.9213G>A" "r.(?)" "p.(=)" "26" "" "0000672774" "00023950" "90" "9214" "0" "9214" "0" "c.9214del" "r.(?)" "p.(Asp3072Metfs*2)" "26" "" "0000672775" "00023950" "70" "9222" "0" "9222" "0" "c.9222C>G" "r.(?)" "p.(Asn3074Lys)" "26" "" "0000672776" "00023950" "90" "9221" "0" "9221" "0" "c.9221del" "r.(?)" "p.(Asn3074Thrfs*6)" "26" "" "0000672777" "00023950" "50" "9233" "0" "9233" "0" "c.9233T>C" "r.(?)" "p.(Met3078Thr)" "26" "" "0000672778" "00023950" "90" "9240" "0" "9241" "0" "c.9240_9241del" "r.(?)" "p.(Ala3082Cysfs*96)" "26" "" "0000672779" "00023950" "70" "9241" "0" "9241" "0" "c.9241T>C" "r.(?)" "p.(Cys3081Arg)" "26" "" "0000672780" "00023950" "30" "9261" "0" "9261" "0" "c.9261C>G" "r.(?)" "p.(=)" "26" "" "0000672781" "00023950" "30" "9264" "0" "9264" "0" "c.9264C>T" "r.(?)" "p.(=)" "26" "" "0000672782" "00023950" "90" "9264" "0" "9264" "0" "c.9264C>G" "r.(?)" "p.(Tyr3088*)" "26" "" "0000672783" "00023950" "30" "9270" "0" "9270" "0" "c.9270C>T" "r.(?)" "p.(=)" "26" "" "0000672784" "00023950" "90" "9283" "0" "9293" "0" "c.9283_9293del" "r.(?)" "p.(Leu3095Glyfs*80)" "26" "" "0000672785" "00023950" "50" "9313" "0" "9313" "0" "c.9313C>T" "r.(?)" "p.(Arg3105Trp)" "26" "" "0000672786" "00023950" "90" "9317" "0" "9317" "0" "c.9317dup" "r.(?)" "p.(Arg3107Profs*72)" "26" "" "0000672787" "00023950" "90" "9320" "0" "9324" "0" "c.9320_9324dup" "r.(?)" "p.(Ile3109Alafs*209)" "26" "" "0000672788" "00023950" "30" "9330" "0" "9330" "0" "c.9330T>C" "r.(?)" "p.(=)" "26" "" "0000672789" "00023950" "70" "9335" "0" "9335" "0" "c.9335G>T" "r.(?)" "p.(Cys3112Phe)" "26" "" "0000672790" "00023950" "70" "9335" "0" "9335" "0" "c.9335G>A" "r.(?)" "p.(Cys3112Tyr)" "26" "" "0000672791" "00023950" "30" "9344" "0" "9344" "0" "c.9344G>A" "r.(?)" "p.(Arg3115Gln)" "26" "" "0000672792" "00023950" "30" "9349" "0" "9349" "0" "c.9349C>T" "r.(?)" "p.(Arg3117Cys)" "26" "" "0000672793" "00023950" "30" "9350" "0" "9350" "0" "c.9350G>A" "r.(?)" "p.(Arg3117His)" "26" "" "0000672794" "00023950" "70" "9361" "0" "9361" "0" "c.9361G>A" "r.(?)" "p.(Glu3121Lys)" "26" "" "0000672795" "00023950" "70" "9377" "0" "9377" "0" "c.9377C>T" "r.(?)" "p.(Thr3126Ile)" "26" "" "0000672796" "00023950" "70" "9377" "0" "9377" "0" "c.9377C>A" "r.(?)" "p.(Thr3126Lys)" "26" "" "0000672797" "00023950" "90" "9384" "0" "9384" "0" "c.9384G>A" "r.(?)" "p.(Trp3128*)" "26" "" "0000672798" "00023950" "70" "9388" "0" "9388" "0" "c.9388C>T" "r.(?)" "p.(Arg3130Trp)" "26" "" "0000672799" "00023950" "70" "9388" "0" "9393" "0" "c.9388_9393del" "r.(?)" "p.(Arg3130_Gly3131del)" "26" "" "0000672800" "00023950" "70" "9395" "0" "9395" "0" "c.9395C>T" "r.(?)" "p.(Ser3132Leu)" "26" "" "0000672801" "00023950" "90" "9397" "1" "9397" "1" "c.9397+1G>A" "r.spl" "p.?" "26i" "" "0000672802" "00023950" "30" "9397" "12" "9397" "12" "c.9397+12A>G" "r.(?)" "p.(=)" "26i" "" "0000672803" "00023950" "30" "9397" "22" "9397" "22" "c.9397+22C>T" "r.(?)" "p.(=)" "26i" "" "0000672804" "00023950" "30" "9397" "76" "9397" "76" "c.9397+76C>A" "r.(?)" "p.(=)" "26i" "" "0000672805" "00023950" "30" "9397" "81" "9397" "81" "c.9397+81C>A" "r.(?)" "p.(=)" "26i" "" "0000672806" "00023950" "30" "9397" "214" "9397" "214" "c.9397+214G>A" "r.(?)" "p.(=)" "26i" "" "0000672807" "00023950" "90" "9397" "243" "11157" "-13" "c.9397+243_11157-13del" "r.spl" "p.?" "26i_38i" "" "0000672808" "00023950" "30" "9398" "-47" "9398" "-47" "c.9398-47T>G" "r.(?)" "p.(=)" "26i" "" "0000672809" "00023950" "70" "9404" "0" "9404" "0" "c.9404C>T" "r.(?)" "p.(Thr3135Met)" "27" "" "0000672810" "00023950" "70" "9409" "0" "9409" "0" "c.9409C>T" "r.(?)" "p.(His3137Tyr)" "27" "" "0000672811" "00023950" "70" "9413" "0" "9415" "0" "c.9413_9415del" "r.(?)" "p.(Val3138del)" "27" "" "0000672812" "00023950" "70" "9412" "0" "9412" "0" "c.9412G>A" "r.(?)" "p.(Val3138Met)" "27" "" "0000672813" "00023950" "70" "9413" "0" "9413" "0" "c.9413T>A" "r.(?)" "p.(Val3138Glu)" "27" "" "0000672814" "00023950" "50" "9416" "0" "9416" "0" "c.9416G>T" "r.(?)" "p.(Gly3139Val)" "27" "" "0000672815" "00023950" "30" "9421" "0" "9421" "0" "c.9421A>C" "r.(?)" "p.(Met3141Leu)" "27" "" "0000672816" "00023950" "70" "9425" "0" "9425" "0" "c.9425T>C" "r.(?)" "p.(Leu3142Pro)" "27" "" "0000672817" "00023950" "70" "9430" "0" "9430" "0" "c.9430G>T" "r.(?)" "p.(Gly3144Trp)" "27" "" "0000672818" "00023950" "70" "9431" "0" "9431" "0" "c.9431G>A" "r.(?)" "p.(Gly3144Glu)" "27" "" "0000672819" "00023950" "30" "9456" "0" "9456" "0" "c.9456G>A" "r.(?)" "p.(=)" "27" "" "0000672820" "00023950" "70" "9461" "0" "9461" "0" "c.9461T>C" "r.(?)" "p.(Leu3154Pro)" "27" "" "0000672821" "00023950" "30" "9468" "0" "9468" "0" "c.9468C>T" "r.(?)" "p.(=)" "27" "" "0000672822" "00023950" "90" "9474" "0" "9475" "0" "c.9474_9475del" "r.(?)" "p.(Arg3158Serfs*20)" "27" "" "0000672823" "00023950" "50" "9484" "0" "9484" "0" "c.9484C>T" "r.(?)" "p.(Arg3162Cys)" "27" "" "0000672824" "00023950" "70" "9485" "0" "9485" "0" "c.9485G>T" "r.(?)" "p.(Arg3162Leu)" "27" "" "0000672825" "00023950" "50" "9499" "0" "9499" "0" "c.9499A>T" "r.(?)" "p.(Ile3167Phe)" "27" "" "0000672826" "00023950" "70" "9502" "0" "9504" "0" "c.9502_9504del" "r.(?)" "p.(Phe3168del)" "27" "" "0000672827" "00023950" "70" "9504" "0" "9504" "0" "c.9504C>G" "r.(?)" "p.(Phe3168Leu)" "27" "" "0000672828" "00023950" "30" "9506" "0" "9506" "0" "c.9506G>A" "r.(?)" "p.(Arg3169Gln)" "27" "" "0000672829" "00023950" "70" "9511" "0" "9511" "0" "c.9511G>C" "r.(?)" "p.(Ala3171Pro)" "27" "" "0000672830" "00023950" "70" "9533" "0" "9533" "0" "c.9533G>T" "r.(?)" "p.(Ser3178Ile)" "27" "" "0000672831" "00023950" "30" "9534" "0" "9534" "0" "c.9534C>T" "r.(?)" "p.(=)" "27" "" "0000672832" "00023950" "90" "9540" "0" "9540" "0" "c.9540G>A" "r.(?)" "p.(Trp3180*)" "27" "" "0000672833" "00023950" "70" "9543" "0" "9543" "0" "c.9543G>C" "r.(?)" "p.(Lys3181Asn)" "27" "" "0000672834" "00023950" "90" "9547" "0" "9547" "0" "c.9547del" "r.(?)" "p.(Arg3183Glufs*133)" "27" "" "0000672835" "00023950" "90" "9547" "0" "9547" "0" "c.9547C>T" "r.(?)" "p.(Arg3183*)" "27" "" "0000672836" "00023950" "30" "9548" "0" "9548" "0" "c.9548G>A" "r.(?)" "p.(Arg3183Gln)" "27" "" "0000672837" "00023950" "90" "9555" "0" "9555" "0" "c.9555G>A" "r.(?)" "p.(Trp3185*)" "27" "" "0000672838" "00023950" "70" "9556" "0" "9556" "0" "c.9556C>T" "r.(?)" "p.(His3186Tyr)" "27" "" "0000672839" "00023950" "70" "9558" "0" "9558" "0" "c.9558C>G" "r.(?)" "p.(His3186Gln)" "27" "" "0000672840" "00023950" "50" "9561" "0" "9561" "0" "c.9561C>A" "r.(?)" "p.(Asp3187Glu)" "27" "" "0000672841" "00023950" "50" "9562" "0" "9562" "0" "c.9562A>G" "r.(?)" "p.(Asn3188Asp)" "27" "" "0000672842" "00023950" "70" "9564" "0" "9566" "0" "c.9564_9566del" "r.(?)" "p.(Asn3188del)" "27" "" "0000672843" "00023950" "70" "9563" "0" "9563" "0" "c.9563A>T" "r.(?)" "p.(Asn3188Ile)" "27" "" "0000672844" "00023950" "50" "9563" "0" "9563" "0" "c.9563A>G" "r.(?)" "p.(Asn3188Ser)" "27" "" "0000672845" "00023950" "70" "9564" "0" "9566" "0" "c.9564_9566del" "r.(?)" "p.(Asn3188del)" "27" "" "0000672846" "00023950" "90" "9568" "1" "9568" "1" "c.9568+1G>A" "r.spl" "p.?" "27i" "" "0000672847" "00023950" "30" "9569" "-13" "9569" "-13" "c.9569-13T>C" "r.(?)" "p.(=)" "27i" "" "0000672848" "00023950" "30" "9569" "-11" "9569" "-11" "c.9569-11C>T" "r.(?)" "p.(=)" "27i" "" "0000672849" "00023950" "90" "9569" "-2" "9569" "-2" "c.9569-2A>G" "r.spl" "p.?" "27i" "" "0000672850" "00023950" "30" "9573" "0" "9573" "0" "c.9573C>G" "r.(?)" "p.(=)" "28" "" "0000672851" "00023950" "50" "9577" "0" "9577" "0" "c.9577C>G" "r.(?)" "p.(Pro3193Ala)" "28" "" "0000672852" "00023950" "70" "9577" "0" "9577" "0" "c.9577C>T" "r.(?)" "p.(Pro3193Ser)" "28" "" "0000672853" "00023950" "70" "9578" "0" "9578" "0" "c.9578C>T" "r.(?)" "p.(Pro3193Leu)" "28" "" "0000672854" "00023950" "90" "9592" "0" "9592" "0" "c.9592C>T" "r.(?)" "p.(Gln3198*)" "28" "" "0000672855" "00023950" "90" "9616" "0" "9616" "0" "c.9616C>T" "r.(?)" "p.(Gln3206*)" "28" "" "0000672856" "00023950" "30" "9620" "0" "9620" "0" "c.9620C>T" "r.(?)" "p.(Thr3207Met)" "28" "" "0000672857" "00023950" "30" "9625" "0" "9625" "0" "c.9625C>T" "r.(?)" "p.(Arg3209Cys)" "28" "" "0000672858" "00023950" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "27i_32i" "" "0000672859" "00023950" "30" "9626" "0" "9626" "0" "c.9626G>A" "r.(?)" "p.(Arg3209His)" "28" "" "0000672860" "00023950" "30" "9631" "0" "9631" "0" "c.9631G>A" "r.(?)" "p.(Ala3211Thr)" "28" "" "0000672861" "00023950" "30" "9636" "0" "9636" "0" "c.9636C>T" "r.(?)" "p.(=)" "28" "" "0000672862" "00023950" "90" "9636" "0" "9636" "0" "c.9636del" "r.(?)" "p.(Phe3213Serfs*103)" "28" "" "0000672863" "00023950" "30" "9639" "0" "9639" "0" "c.9639C>T" "r.(?)" "p.(=)" "28" "" "0000672864" "00023950" "30" "9640" "0" "9640" "0" "c.9640C>T" "r.(?)" "p.(=)" "28" "" "0000672865" "00023950" "70" "9647" "0" "9647" "0" "c.9647A>T" "r.(?)" "p.(Asn3216Ile)" "28" "" "0000672866" "00023950" "90" "9654" "0" "9654" "0" "c.9654G>A" "r.(?)" "p.(Trp3218*)" "28" "" "0000672867" "00023950" "90" "9658" "0" "9658" "0" "c.9658del" "r.(?)" "p.(Ser3220Argfs*96)" "28" "" "0000672868" "00023950" "30" "9669" "0" "9669" "0" "c.9669G>A" "r.(?)" "p.(=)" "28" "" "0000672869" "00023950" "90" "9674" "0" "9700" "0" "c.9674_9700del" "r.(?)" "p.(Ala3225_Glu3233del)" "28" "" "0000672870" "00023950" "90" "9683" "0" "9683" "0" "c.9683del" "r.(?)" "p.(Gly3228Alafs*88)" "28" "" "0000672871" "00023950" "70" "9694" "0" "9696" "0" "c.9694_9696del" "r.(?)" "p.(Lys3232del)" "28" "" "0000672872" "00023950" "50" "9694" "0" "9694" "0" "c.9694A>G" "r.(?)" "p.(Lys3232Glu)" "28" "" "0000672873" "00023950" "70" "9698" "0" "9698" "0" "c.9698A>T" "r.(?)" "p.(Glu3233Val)" "28" "" "0000672874" "00023950" "90" "9712" "1" "9712" "1" "c.9712+1G>T" "r.spl" "p.?" "28i" "" "0000672875" "00023950" "30" "9712" "30" "9712" "30" "c.9712+30T>G" "r.(?)" "p.(=)" "28i" "" "0000672876" "00023950" "30" "9713" "-22" "9713" "-22" "c.9713-22T>G" "r.(?)" "p.(=)" "28i" "" "0000672877" "00023950" "30" "9713" "-21" "9713" "-21" "c.9713-21G>A" "r.(?)" "p.(=)" "28i" "" "0000672878" "00023950" "30" "9713" "-20" "9713" "-20" "c.9713-20C>T" "r.(?)" "p.(=)" "28i" "" "0000672879" "00023950" "30" "9713" "-17" "9713" "-17" "c.9713-17C>G" "r.(?)" "p.(=)" "28i" "" "0000672880" "00023950" "30" "9714" "0" "9714" "0" "c.9714C>T" "r.(?)" "p.(=)" "29" "" "0000672881" "00023950" "30" "9718" "0" "9718" "0" "c.9718G>A" "r.(?)" "p.(Ala3240Thr)" "29" "" "0000672882" "00023950" "30" "9726" "0" "9726" "0" "c.9726T>G" "r.(?)" "p.(=)" "29" "" "0000672883" "00023950" "30" "9731" "0" "9731" "0" "c.9731G>A" "r.(?)" "p.(Arg3244His)" "29" "" "0000672884" "00023950" "50" "9730" "0" "9730" "0" "c.9730C>T" "r.(?)" "p.(Arg3244Cys)" "29" "" "0000672885" "00023950" "30" "9740" "0" "9740" "0" "c.9740G>A" "r.(?)" "p.(Arg3247His)" "29" "" "0000672886" "00023950" "30" "9765" "0" "9765" "0" "c.9765T>C" "r.(?)" "p.(=)" "29" "" "0000672887" "00023950" "70" "9787" "0" "9787" "0" "c.9787T>C" "r.(?)" "p.(Trp3263Arg)" "29" "" "0000672888" "00023950" "70" "9789" "0" "9789" "0" "c.9789G>T" "r.(?)" "p.(Trp3263Cys)" "29" "" "0000672889" "00023950" "30" "9792" "0" "9792" "0" "c.9792C>T" "r.(?)" "p.(=)" "29" "" "0000672890" "00023950" "70" "9794" "0" "9794" "0" "c.9794C>T" "r.(?)" "p.(Ser3265Phe)" "29" "" "0000672891" "00023950" "30" "9795" "0" "9795" "0" "c.9795C>T" "r.(?)" "p.(=)" "29" "" "0000672892" "00023950" "90" "9801" "0" "9801" "0" "c.9801G>A" "r.(?)" "p.(Trp3267*)" "29" "" "0000672893" "00023950" "90" "9817" "0" "9817" "0" "c.9817del" "r.(?)" "p.(Ser3273Alafs*43)" "29" "" "0000672894" "00023950" "50" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "29" "" "0000672895" "00023950" "90" "9840" "0" "9843" "0" "c.9840_9843dup" "r.(?)" "p.(Thr3282Glyfs*109)" "29" "" "0000672896" "00023950" "30" "9853" "0" "9853" "0" "c.9853G>A" "r.(?)" "p.(Val3285Ile)" "29" "" "0000672897" "00023950" "70" "9859" "0" "9861" "0" "c.9859_9861del" "r.(?)" "p.(Leu3287del)" "29" "" "0000672898" "00023950" "50" "9884" "0" "9884" "0" "c.9884A>G" "r.(?)" "p.(Asn3295Ser)" "29" "" "0000672899" "00023950" "70" "9885" "0" "9885" "0" "c.9885C>A" "r.(?)" "p.(Asn3295Lys)" "29" "" "0000672900" "00023950" "30" "9888" "0" "9888" "0" "c.9888C>T" "r.(?)" "p.(=)" "29" "" "0000672901" "00023950" "90" "9894" "0" "9894" "0" "c.9894G>A" "r.(?)" "p.(Trp3298*)" "29" "" "0000672902" "00023950" "70" "9898" "0" "9898" "0" "c.9898G>A" "r.(?)" "p.(Gly3300Arg)" "29" "" "0000672903" "00023950" "30" "9923" "35" "9923" "35" "c.9923+35G>T" "r.(?)" "p.(=)" "29i" "" "0000672904" "00023950" "30" "9924" "-19" "9924" "-19" "c.9924-19C>T" "r.(?)" "p.(=)" "29i" "" "0000672905" "00023950" "30" "9924" "-11" "9924" "-11" "c.9924-11C>T" "r.(?)" "p.(=)" "29i" "" "0000672906" "00023950" "30" "9924" "-9" "9924" "-7" "c.9924-9_9924-7del" "r.(?)" "p.(=)" "29i" "" "0000672907" "00023950" "70" "9924" "-3" "9924" "-3" "c.9924-3C>G" "r.spl?" "p.(=)" "29i" "" "0000672908" "00023950" "90" "9924" "-2" "9924" "-2" "c.9924-2A>T" "r.spl" "p.?" "29i" "" "0000672909" "00023950" "90" "9924" "-1" "9924" "-1" "c.9924-1G>C" "r.spl" "p.?" "29i" "" "0000672910" "00023950" "90" "9924" "-1" "9924" "-1" "c.9924-1G>A" "r.spl" "p.?" "29i" "" "0000672911" "00023950" "70" "9926" "0" "9926" "0" "c.9926C>T" "r.(?)" "p.(Thr3309Met)" "30" "" "0000672912" "00023950" "30" "9932" "0" "9932" "0" "c.9932A>G" "r.(?)" "p.(His3311Arg)" "30" "" "0000672913" "00023950" "30" "9957" "0" "9957" "0" "c.9957C>T" "r.(?)" "p.(=)" "30" "" "0000672914" "00023950" "90" "9957" "0" "9958" "0" "c.9957_9958del" "r.(?)" "p.(Val3320Argfs*69)" "30" "" "0000672915" "00023950" "70" "9976" "0" "9976" "0" "c.9976G>C" "r.(?)" "p.(Gly3326Arg)" "30" "" "0000672916" "00023950" "90" "9980" "0" "9987" "0" "c.9980_9987del" "r.(?)" "p.(Leu3327Glnfs*60)" "30" "" "0000672917" "00023950" "30" "9989" "0" "9989" "0" "c.9989G>C" "r.(?)" "p.(Ser3330Thr)" "30" "" "0000672918" "00023950" "30" "10023" "0" "10023" "0" "c.10023T>C" "r.(?)" "p.(=)" "30" "" "0000672919" "00023950" "90" "10026" "0" "10026" "0" "c.10026del" "r.(?)" "p.(Leu3343Serfs*54)" "30" "" "0000672920" "00023950" "90" "10028" "0" "10028" "0" "c.10028del" "r.(?)" "p.(Leu3343Profs*54)" "30" "" "0000672921" "00023950" "90" "10029" "0" "10029" "0" "c.10029del" "r.(?)" "p.(Phe3344Serfs*53)" "30" "" "0000672922" "00023950" "30" "10044" "0" "10044" "0" "c.10044G>T" "r.(?)" "p.(=)" "30" "" "0000672923" "00023950" "70" "10043" "0" "10043" "0" "c.10043G>A" "r.(?)" "p.(Arg3348Gln)" "30" "" "0000672924" "00023950" "90" "10050" "1" "10050" "1" "c.10050+1G>A" "r.spl" "p.?" "30i" "" "0000672925" "00023950" "30" "10050" "54" "10050" "54" "c.10050+54A>C" "r.(?)" "p.(=)" "30i" "" "0000672926" "00023950" "30" "10050" "54" "10050" "54" "c.10050+54A>G" "r.(?)" "p.(=)" "30i" "" "0000672927" "00023950" "30" "10050" "62" "10050" "62" "c.10050+62T>C" "r.(?)" "p.(=)" "30i" "" "0000672928" "00023950" "30" "10050" "65" "10050" "65" "c.10050+65G>A" "r.(?)" "p.(=)" "30i" "" "0000672929" "00023950" "90" "10051" "-1" "10499" "1" "c.(10050+1_10051-1)_(10499+1_10500-1)del" "r.spl" "p.?" "30i_34i" "" "0000672930" "00023950" "30" "10051" "-25" "10051" "-25" "c.10051-25G>A" "r.(?)" "p.(=)" "30i" "" "0000672931" "00023950" "30" "10051" "-12" "10051" "-12" "c.10051-12C>G" "r.(?)" "p.(=)" "30i" "" "0000672932" "00023950" "50" "10064" "0" "10064" "0" "c.10064C>T" "r.(?)" "p.(Pro3355Leu)" "31" "" "0000672933" "00023950" "90" "10076" "0" "10076" "0" "c.10076del" "r.(?)" "p.(Pro3359Leufs*38)" "31" "" "0000672934" "00023950" "90" "10084" "0" "10084" "0" "c.10084C>T" "r.(?)" "p.(Gln3362*)" "31" "" "0000672935" "00023950" "90" "10087" "0" "10087" "0" "c.10087C>T" "r.(?)" "p.(Gln3363*)" "31" "" "0000672936" "00023950" "30" "10099" "0" "10099" "0" "c.10099A>G" "r.(?)" "p.(Ile3367Val)" "31" "" "0000672937" "00023950" "70" "10102" "0" "10102" "0" "c.10102G>A" "r.(?)" "p.(Asp3368Asn)" "31" "" "0000672938" "00023950" "30" "10114" "0" "10114" "0" "c.10114G>A" "r.(?)" "p.(Asp3372Asn)" "31" "" "0000672939" "00023950" "30" "10123" "0" "10123" "0" "c.10123G>A" "r.(?)" "p.(Val3375Met)" "31" "" "0000672940" "00023950" "50" "10145" "0" "10145" "0" "c.10145C>T" "r.(?)" "p.(Thr3382Met)" "31" "" "0000672941" "00023950" "90" "10151" "0" "10151" "0" "c.10151C>G" "r.(?)" "p.(Ser3384*)" "31" "" "0000672942" "00023950" "30" "10159" "0" "10159" "0" "c.10159C>G" "r.(?)" "p.(His3387Asp)" "31" "" "0000672943" "00023950" "30" "10163" "0" "10163" "0" "c.10163C>T" "r.(?)" "p.(Ala3388Val)" "31" "" "0000672944" "00023950" "90" "10167" "2" "10167" "3" "c.10167+2_10167+3del" "r.spl" "p.?" "31i" "" "0000672945" "00023950" "30" "10167" "7" "10167" "7" "c.10167+7A>G" "r.(?)" "p.(=)" "31i" "" "0000672946" "00023950" "30" "10167" "14" "10167" "14" "c.10167+14T>C" "r.(?)" "p.(=)" "31i" "" "0000672947" "00023950" "70" "10167" "25" "10167" "43" "c.10167+25_10167+43del" "r.spl" "p.(=)" "31i" "" "0000672948" "00023950" "30" "10167" "37" "10167" "37" "c.10167+37G>T" "r.(?)" "p.(=)" "31i" "" "0000672949" "00023950" "30" "10167" "43" "10167" "43" "c.10167+43G>A" "r.(?)" "p.(=)" "31i" "" "0000672950" "00023950" "30" "10167" "45" "10167" "45" "c.10167+45C>T" "r.(?)" "p.(=)" "31i" "" "0000672951" "00023950" "30" "10168" "-8" "10168" "-8" "c.10168-8C>T" "r.(?)" "p.(=)" "31i" "" "0000672952" "00023950" "90" "10168" "-8" "10168" "-2" "c.10168-8_10168-2del" "r.spl" "p.?" "31i" "" "0000672953" "00023950" "90" "10168" "0" "10168" "0" "c.10168C>T" "r.(?)" "p.(Gln3390*)" "32" "" "0000672954" "00023950" "30" "10173" "0" "10173" "0" "c.10173C>T" "r.(?)" "p.(=)" "32" "" "0000672955" "00023950" "90" "10179" "0" "10179" "0" "c.10179dup" "r.(?)" "p.(Gly3394Trpfs*6)" "32" "" "0000672956" "00023950" "90" "10183" "0" "10183" "0" "c.10183C>T" "r.(?)" "p.(Gln3395*)" "32" "" "0000672957" "00023950" "90" "10216" "0" "10220" "20" "c.10216_10220+20del" "r.spl" "p.?" "32_32i" "" "0000672958" "00023950" "90" "10220" "1" "10220" "1" "c.10220+1G>T" "r.spl" "p.?" "32i" "" "0000672959" "00023950" "50" "10220" "6" "10220" "6" "c.10220+6T>A" "r.(?)" "p.(=)" "32i" "" "0000672960" "00023950" "30" "10220" "33" "10220" "33" "c.10220+33G>A" "r.(?)" "p.(=)" "32i" "" "0000672961" "00023950" "30" "10220" "36" "10220" "36" "c.10220+36G>C" "r.(?)" "p.(=)" "32i" "" "0000672962" "00023950" "30" "10221" "-14" "10221" "-14" "c.10221-14C>T" "r.(?)" "p.(=)" "32i" "" "0000672963" "00023950" "30" "10225" "0" "10225" "0" "c.10225G>C" "r.(?)" "p.(Val3409Leu)" "33" "" "0000672964" "00023950" "70" "10233" "0" "10233" "0" "c.10233G>T" "r.(?)" "p.(Trp3411Cys)" "33" "" "0000672965" "00023950" "30" "10234" "0" "10234" "0" "c.10234C>T" "r.(?)" "p.(Pro3412Ser)" "33" "" "0000672966" "00023950" "30" "10240" "0" "10240" "0" "c.10240G>A" "r.(?)" "p.(Gly3414Ser)" "33" "" "0000672967" "00023950" "70" "10243" "0" "10243" "0" "c.10243G>A" "r.(?)" "p.(Glu3415Lys)" "33" "" "0000672968" "00023950" "30" "10251" "0" "10251" "0" "c.10251G>A" "r.(?)" "p.(=)" "33" "" "0000672969" "00023950" "90" "10253" "0" "10253" "0" "c.10253dup" "r.(?)" "p.(Ser3419Glnfs*8)" "33" "" "0000672970" "00023950" "90" "10260" "0" "10260" "0" "c.10260G>A" "r.(?)" "p.(Trp3420*)" "33" "" "0000672971" "00023950" "30" "10290" "0" "10290" "0" "c.10290G>A" "r.(?)" "p.(=)" "33" "" "0000672972" "00023950" "30" "10300" "0" "10300" "0" "c.10300C>T" "r.(?)" "p.(=)" "33" "" "0000672973" "00023950" "30" "10304" "0" "10304" "0" "c.10304G>A" "r.(?)" "p.(Arg3435Gln)" "33" "" "0000672974" "00023950" "30" "10325" "0" "10325" "0" "c.10325C>T" "r.(?)" "p.(Ala3442Val)" "33" "" "0000672975" "00023950" "30" "10326" "0" "10326" "0" "c.10326G>A" "r.(?)" "p.(=)" "33" "" "0000672976" "00023950" "90" "10335" "0" "10335" "0" "c.10335del" "r.(?)" "p.(Leu3446Trpfs*27)" "33" "" "0000672977" "00023950" "90" "10322" "0" "10342" "0" "c.10322_10342dup" "r.(?)" "p.(Gln3441_Gly3447dup)" "33" "" "0000672978" "00023950" "90" "10343" "0" "10343" "0" "c.10343del" "r.(?)" "p.(Pro3448Glnfs*25)" "33" "" "0000672979" "00023950" "90" "10345" "0" "10406" "-24" "c.10345_10406-24del" "r.spl" "p.?" "33_33i" "" "0000672980" "00023950" "30" "10354" "0" "10354" "0" "c.10354G>A" "r.(?)" "p.(Gly3452Ser)" "33" "" "0000672981" "00023950" "30" "10363" "0" "10363" "0" "c.10363C>T" "r.(?)" "p.(=)" "33" "" "0000672982" "00023950" "30" "10368" "0" "10368" "0" "c.10368C>T" "r.(?)" "p.(=)" "33" "" "0000672983" "00023950" "90" "10374" "0" "10374" "0" "c.10374dup" "r.(?)" "p.(Tyr3459Leufs*12)" "33" "" "0000672984" "00023950" "90" "10377" "0" "10377" "0" "c.10377C>G" "r.(?)" "p.(Tyr3459*)" "33" "" "0000672985" "00023950" "30" "10380" "0" "10380" "0" "c.10380G>T" "r.(?)" "p.(=)" "33" "" "0000672986" "00023950" "70" "10387" "0" "10387" "0" "c.10387A>G" "r.(?)" "p.(Lys3463Glu)" "33" "" "0000672987" "00023950" "30" "10400" "0" "10400" "0" "c.10400C>T" "r.(?)" "p.(Ala3467Val)" "33" "" "0000672988" "00023950" "90" "10403" "0" "10403" "0" "c.10403C>G" "r.(?)" "p.(Ser3468*)" "33" "" "0000672989" "00023950" "70" "10405" "0" "10405" "0" "c.10405G>A" "r.(?)" "p.(Asp3469Asn)" "33" "" "0000672990" "00023950" "70" "10405" "0" "10405" "0" "c.10405G>T" "r.(?)" "p.(Asp3469Tyr)" "33" "" "0000672991" "00023950" "90" "10405" "1" "10405" "1" "c.10405+1G>T" "r.spl" "p.?" "33i" "" "0000672992" "00023950" "70" "10405" "5" "10405" "5" "c.10405+5G>T" "r.spl?" "p.?" "33i" "" "0000672993" "00023950" "30" "10405" "22" "10405" "22" "c.10405+22G>A" "r.(?)" "p.(=)" "33i" "" "0000672994" "00023950" "30" "10406" "-4" "10406" "-4" "c.10406-4C>T" "r.spl?" "p.(=)" "33i" "" "0000672995" "00023950" "90" "10406" "-1" "10406" "-1" "c.10406-1G>C" "r.spl" "p.?" "33i" "" "0000672996" "00023950" "90" "10408" "0" "10409" "0" "c.10408_10409insT" "r.(?)" "p.(Glu3470Valfs*157)" "34" "" "0000672997" "00023950" "90" "10420" "0" "10420" "0" "c.10420C>T" "r.(?)" "p.(Gln3474*)" "34" "" "0000672998" "00023950" "90" "10423" "0" "10423" "0" "c.10423C>T" "r.(?)" "p.(Gln3475*)" "34" "" "0000672999" "00023950" "90" "10426" "0" "10448" "0" "c.10426_10448del" "r.(?)" "p.(Val3476Profs*143)" "34" "" "0000673000" "00023950" "30" "10431" "0" "10431" "0" "c.10431T>C" "r.(?)" "p.(=)" "34" "" "0000673001" "00023950" "30" "10434" "0" "10434" "0" "c.10434C>T" "r.(?)" "p.(=)" "34" "" "0000673002" "00023950" "30" "10437" "0" "10437" "0" "c.10437G>C" "r.(?)" "p.(Glu3479Asp)" "34" "" "0000673003" "00023950" "90" "10441" "0" "10441" "0" "c.10441dup" "r.(?)" "p.(Val3481Glyfs*146)" "34" "" "0000673004" "00023950" "90" "10440" "0" "10441" "0" "c.10440_10441dup" "r.(?)" "p.(Val3481Glyfs*47)" "34" "" "0000673005" "00023950" "30" "10449" "0" "10449" "0" "c.10449C>T" "r.(?)" "p.(=)" "34" "" "0000673006" "00023950" "90" "10462" "0" "10462" "0" "c.10462C>T" "r.(?)" "p.(Gln3488*)" "34" "" "0000673007" "00023950" "90" "10463" "0" "10464" "0" "c.10463_10464insC" "r.(?)" "p.(Gln3488Hisfs*139)" "34" "" "0000673008" "00023950" "90" "10464" "0" "10464" "0" "c.10464del" "r.(?)" "p.(Asp3489Thrfs*38)" "34" "" "0000673009" "00023950" "30" "10485" "0" "10485" "0" "c.10485C>A" "r.(?)" "p.(Asp3495Glu)" "34" "" "0000673010" "00023950" "30" "10499" "18" "10499" "18" "c.10499+18G>A" "r.(?)" "p.(=)" "34i" "" "0000673011" "00023950" "30" "10499" "20" "10499" "20" "c.10499+20G>A" "r.(?)" "p.(=)" "34i" "" "0000673012" "00023950" "90" "10500" "-1" "13929" "0" "c.(10499+1_10500-1)_*1017{0}" "r.?" "p.?" "34i_46_" "" "0000673013" "00023950" "90" "10500" "-1" "13929" "0" "c.(10499+1_10500-1)_*1017{0}" "r.?" "p.?" "34i_46_" "" "0000673014" "00023950" "90" "10500" "-1" "10500" "-1" "c.10500-1G>A" "r.spl" "p.?" "34i" "" "0000673015" "00023950" "90" "10516" "0" "10516" "0" "c.10516del" "r.(?)" "p.(Glu3506Argfs*21)" "35" "" "0000673016" "00023950" "90" "10527" "0" "10528" "0" "c.10527_10528del" "r.(?)" "p.(Glu3509Aspfs*117)" "35" "" "0000673017" "00023950" "30" "10529" "0" "10529" "0" "c.10529C>T" "r.(?)" "p.(Thr3510Met)" "35" "" "0000673018" "00023950" "30" "10531" "0" "10531" "0" "c.10531C>G" "r.(?)" "p.(Leu3511Val)" "35" "" "0000673019" "00023950" "30" "10535" "0" "10535" "0" "c.10535C>T" "r.(?)" "p.(Ala3512Val)" "35" "" "0000673020" "00023950" "90" "10540" "0" "10540" "0" "c.10540C>T" "r.(?)" "p.(Gln3514*)" "35" "" "0000673021" "00023950" "70" "10550" "0" "10551" "0" "c.10550_10551insCCA" "r.(?)" "p.(Gly3517_Glu3518insGln)" "35" "" "0000673022" "00023950" "50" "10556" "0" "10565" "0" "c.10556_10565delinsAAGTT" "r.(?)" "p.(Leu3519Glnfs*106)" "35" "" "0000673023" "00023950" "90" "10588" "0" "10588" "0" "c.10588C>T" "r.(?)" "p.(Gln3530*)" "35" "" "0000673024" "00023950" "50" "10598" "0" "10598" "0" "c.10598C>G" "r.(?)" "p.(Ala3533Gly)" "35" "" "0000673025" "00023950" "30" "10602" "0" "10602" "0" "c.10602G>A" "r.(?)" "p.(=)" "35" "" "0000673026" "00023950" "70" "10618" "0" "10618" "0" "c.10618G>C" "r.(?)" "p.(Gly3540Arg)" "35" "" "0000673027" "00023950" "90" "10618" "2" "10618" "2" "c.10618+2T>C" "r.spl" "p.?" "35i" "" "0000673028" "00023950" "30" "10618" "16" "10618" "18" "c.10618+16_10618+18del" "r.(?)" "p.(=)" "35i" "" "0000673029" "00023950" "50" "10619" "-45" "10619" "-29" "c.10619-45_10619-29del" "r.(?)" "p.(=)" "35i" "" "0000673030" "00023950" "30" "10619" "-14" "10619" "-14" "c.10619-14C>T" "r.(?)" "p.(=)" "35i" "" "0000673031" "00023950" "30" "10619" "-13" "10619" "-13" "c.10619-13del" "r.(?)" "p.(=)" "35i" "" "0000673032" "00023950" "90" "10619" "-2" "10619" "-2" "c.10619-2A>G" "r.spl" "p.?" "35i" "" "0000673033" "00023950" "30" "10619" "0" "10619" "0" "c.10619G>C" "r.(?)" "p.(Gly3540Ala)" "36" "" "0000673034" "00023950" "90" "10634" "0" "10637" "0" "c.10634_10637del" "r.(?)" "p.(Leu3545Argfs*39)" "36" "" "0000673035" "00023950" "70" "10642" "0" "10642" "0" "c.10642C>T" "r.(?)" "p.(Arg3548Cys)" "36" "" "0000673036" "00023950" "30" "10656" "0" "10656" "0" "c.10656C>G" "r.(?)" "p.(=)" "36" "" "0000673037" "00023950" "50" "10667" "0" "10667" "0" "c.10667C>T" "r.(?)" "p.(Ser3556Phe)" "36" "" "0000673038" "00023950" "30" "10674" "0" "10674" "0" "c.10674C>T" "r.(?)" "p.(=)" "36" "" "0000673039" "00023950" "90" "10676" "0" "10677" "0" "c.10676_10677ins13" "r.(?)" "p.(His3559fs70*)" "36" "" "0000673040" "00023950" "30" "10676" "0" "10676" "0" "c.10676A>C" "r.(?)" "p.(His3559Pro)" "36" "" "0000673041" "00023950" "30" "10678" "0" "10678" "0" "c.10678G>A" "r.(?)" "p.(Gly3560Arg)" "36" "" "0000673042" "00023950" "50" "10682" "0" "10682" "0" "c.10682T>C" "r.(?)" "p.(Leu3561Pro)" "36" "" "0000673043" "00023950" "50" "10685" "0" "10685" "0" "c.10685G>A" "r.(?)" "p.(Ser3562Asn)" "36" "" "0000673044" "00023950" "70" "10693" "0" "10696" "0" "c.10693_10696delinsA" "r.(?)" "p.(Leu3565_Val3566delinsMet)" "36" "" "0000673045" "00023950" "90" "10701" "0" "10720" "0" "c.10701_10720del" "r.(?)" "p.(Ala3569Glyfs*51)" "36" "" "0000673046" "00023950" "70" "10710" "0" "10715" "0" "c.10710_10715del" "r.(?)" "p.(Ala3571_Val3572del)" "36" "" "0000673047" "00023950" "90" "10718" "0" "10718" "0" "c.10718C>G" "r.(?)" "p.(Ser3573*)" "36" "" "0000673048" "00023950" "90" "10719" "0" "10720" "0" "c.10719_10720del" "r.(?)" "p.(Gly3574Valfs*52)" "36" "" "0000673049" "00023950" "90" "10722" "0" "10732" "0" "c.10722_10732del" "r.(?)" "p.(Trp3575Glufs*48)" "36" "" "0000673050" "00023950" "90" "10725" "0" "10725" "0" "c.10725G>A" "r.(?)" "p.(Trp3575*)" "36" "" "0000673051" "00023950" "90" "10739" "0" "10739" "0" "c.10739dup" "r.(?)" "p.(Val3584Argfs*43)" "36" "" "0000673052" "00023950" "90" "10745" "0" "10745" "0" "c.10745del" "r.(?)" "p.(Pro3582Argfs*3)" "36" "" "0000673053" "00023950" "90" "10745" "0" "10745" "0" "c.10745dup" "r.(?)" "p.(Val3584Argfs*43)" "36" "" "0000673054" "00023950" "90" "10746" "0" "10747" "0" "c.10746_10747insC" "r.(?)" "p.(Gly3583Argfs*44)" "36" "" "0000673055" "00023950" "30" "10749" "0" "10749" "0" "c.10749C>T" "r.(?)" "p.(=)" "36" "" "0000673056" "00023950" "90" "10756" "0" "10757" "0" "c.10756_10757del" "r.(?)" "p.(Val3586Cysfs*40)" "36" "" "0000673057" "00023950" "30" "10765" "0" "10765" "0" "c.10765C>T" "r.(?)" "p.(Leu3589Phe)" "36" "" "0000673058" "00023950" "30" "10768" "0" "10768" "0" "c.10768C>T" "r.(?)" "p.(=)" "36" "" "0000673059" "00023950" "50" "10768" "0" "10768" "0" "c.10768C>A" "r.(?)" "p.(Leu3590Met)" "36" "" "0000673060" "00023950" "30" "10778" "0" "10778" "0" "c.10778G>T" "r.(?)" "p.(Ser3593Ile)" "36" "" "0000673061" "00023950" "90" "10780" "0" "10780" "0" "c.10780dup" "r.(?)" "p.(Ala3594Glyfs*33)" "36" "" "0000673062" "00023950" "70" "10780" "0" "10785" "0" "c.10780_10785del" "r.(?)" "p.(Ala3594_Ser3595del)" "36" "" "0000673063" "00023950" "90" "10789" "0" "10789" "0" "c.10789del" "r.(?)" "p.(Leu3597Trpfs*10)" "36" "" "0000673064" "00023950" "70" "10796" "0" "10796" "0" "c.10796C>T" "r.(?)" "p.(Ser3599Leu)" "36" "" "0000673065" "00023950" "90" "10796" "0" "10796" "0" "c.10796C>A" "r.(?)" "p.(Ser3599*)" "36" "" "0000673066" "00023950" "50" "10804" "0" "10804" "0" "c.10804G>A" "r.(?)" "p.(Gly3602Ser)" "36" "" "0000673067" "00023950" "70" "10807" "0" "10807" "0" "c.10807T>C" "r.(?)" "p.(Trp3603Arg)" "36" "" "0000673068" "00023950" "90" "10808" "0" "10808" "0" "c.10808G>A" "r.(?)" "p.(Trp3603*)" "36" "" "0000673069" "00023950" "70" "10810" "0" "10810" "0" "c.10810G>A" "r.(?)" "p.(Glu3604Lys)" "36" "" "0000673070" "00023950" "90" "10821" "2" "10821" "2" "c.10821+2T>G" "r.(?)" "p.?" "36i" "" "0000673071" "00023950" "30" "10822" "-14" "10822" "-14" "c.10822-14C>T" "r.(?)" "p.(=)" "36i" "" "0000673072" "00023950" "30" "10822" "-8" "10822" "-8" "c.10822-8C>G" "r.(?)" "p.(=)" "36i" "" "0000673073" "00023950" "30" "10822" "-8" "10822" "-8" "c.10822-8C>T" "r.(?)" "p.(=)" "36i" "" "0000673074" "00023950" "30" "10822" "-8" "10822" "-8" "c.10822-8del" "r.(?)" "p.(=)" "36i" "" "0000673075" "00023950" "30" "10822" "-3" "10822" "-3" "c.10822-3del" "r.spl?" "p.(=)" "36i" "" "0000673076" "00023950" "50" "10829" "0" "10829" "0" "c.10829T>C" "r.(?)" "p.(Leu3610Pro)" "37" "" "0000673077" "00023950" "90" "10833" "0" "10833" "0" "c.10833del" "r.(?)" "p.(Ala3612Profs*20)" "37" "" "0000673078" "00023950" "30" "10836" "0" "10836" "0" "c.10836C>G" "r.(?)" "p.(=)" "37" "" "0000673079" "00023950" "70" "10840" "0" "10840" "0" "c.10840T>C" "r.(?)" "p.(Tyr3614His)" "37" "" "0000673080" "00023950" "70" "10850" "0" "10850" "0" "c.10850T>C" "r.(?)" "p.(Leu3617Pro)" "37" "" "0000673081" "00023950" "90" "10857" "0" "10857" "0" "c.10857dup" "r.(?)" "p.(Lys3620Glnfs*7)" "37" "" "0000673082" "00023950" "30" "10872" "0" "10872" "0" "c.10872G>A" "r.(?)" "p.(=)" "37" "" "0000673083" "00023950" "90" "10895" "0" "10898" "0" "c.10895_10898del" "r.(?)" "p.(Glu3632Alafs*4)" "37" "" "0000673084" "00023950" "70" "10896" "0" "10896" "0" "c.10896G>C" "r.(?)" "p.(Glu3632Asp)" "37" "" "0000673085" "00023950" "90" "10897" "0" "10898" "0" "c.10897_10898del" "r.(?)" "p.(Ser3633Profs*88)" "37" "" "0000673086" "00023950" "30" "10908" "0" "10908" "0" "c.10908G>A" "r.(?)" "p.(=)" "37" "" "0000673087" "00023950" "90" "10933" "0" "10933" "0" "c.10933del" "r.(?)" "p.(Arg3645Alafs*39)" "37" "" "0000673088" "00023950" "70" "10943" "0" "10943" "0" "c.10943C>T" "r.(?)" "p.(Pro3648Leu)" "37" "" "0000673089" "00023950" "90" "10946" "0" "10953" "0" "c.10946_10953del" "r.(?)" "p.(Pro3649Leufs*70)" "37" "" "0000673090" "00023950" "70" "10948" "0" "10948" "0" "c.10948delinsGTGG" "r.(?)" "p.(His3650delinsValAsp)" "37" "" "0000673091" "00023950" "70" "10951" "0" "10951" "0" "c.10951G>A" "r.(?)" "p.(Gly3651Ser)" "37" "" "0000673092" "00023950" "70" "10952" "0" "10952" "0" "c.10952G>A" "r.(?)" "p.(Gly3651Asp)" "37" "" "0000673093" "00023950" "70" "10958" "0" "10958" "0" "c.10958C>T" "r.(?)" "p.(Ala3653Val)" "37" "" "0000673094" "00023950" "70" "10960" "0" "10960" "0" "c.10960C>G" "r.(?)" "p.(Leu3654Val)" "37" "" "0000673095" "00023950" "90" "10966" "0" "10966" "0" "c.10966del" "r.(?)" "p.(Leu3656Trpfs*28)" "37" "" "0000673096" "00023950" "50" "10969" "0" "10969" "0" "c.10969G>C" "r.(?)" "p.(Ala3657Pro)" "37" "" "0000673097" "00023950" "70" "10970" "0" "10970" "0" "c.10970C>A" "r.(?)" "p.(Ala3657Asp)" "37" "" "0000673098" "00023950" "90" "10984" "0" "10984" "0" "c.10984del" "r.(?)" "p.(Arg3662Alafs*22)" "37" "" "0000673099" "00023950" "90" "11004" "0" "11004" "0" "c.11004dup" "r.(?)" "p.(Gly3669Trpfs*53)" "37" "" "0000673100" "00023950" "30" "11007" "0" "11007" "0" "c.11007C>T" "r.(?)" "p.(=)" "37" "" "0000673101" "00023950" "70" "11015" "0" "11015" "0" "c.11015G>C" "r.(?)" "p.(Arg3672Pro)" "37" "" "0000673102" "00023950" "30" "11015" "0" "11015" "0" "c.11015G>A" "r.(?)" "p.(Arg3672Gln)" "37" "" "0000673103" "00023950" "90" "11016" "1" "11016" "1" "c.11016+1G>A" "r.spl" "p.?" "37i" "" "0000673104" "00023950" "30" "11016" "35" "11016" "35" "c.11016+35C>T" "r.(?)" "p.(=)" "37i" "" "0000673105" "00023950" "30" "11016" "36" "11016" "36" "c.11016+36C>T" "r.(?)" "p.(=)" "37i" "" "0000673106" "00023950" "30" "11016" "42" "11016" "43" "c.11016+42_11016+43del" "r.(?)" "p.(=)" "37i" "" "0000673107" "00023950" "30" "11016" "155" "11016" "155" "c.11016+155C>G" "r.(?)" "p.(=)" "37i" "" "0000673108" "00023950" "30" "11017" "-23" "11017" "-23" "c.11017-23C>G" "r.(?)" "p.(=)" "37i" "" "0000673109" "00023950" "70" "11017" "-10" "11017" "-10" "c.11017-10C>A" "r.spl" "p.(=)" "37i" "" "0000673110" "00023950" "30" "11017" "-10" "11017" "-10" "c.11017-10dup" "r.(?)" "p.(=)" "37i" "" "0000673111" "00023950" "50" "11017" "-9" "11017" "-9" "c.11017-9dup" "r.(?)" "p.(=)" "37i" "" "0000673112" "00023950" "30" "11017" "-4" "11017" "-4" "c.11017-4C>T" "r.spl?" "p.(=)" "37i" "" "0000673113" "00023950" "30" "11017" "-3" "11017" "-3" "c.11017-3C>T" "r.spl?" "p.(=)" "37i" "" "0000673114" "00023950" "90" "11017" "-1" "11017" "-1" "c.11017-1G>T" "r.spl" "p.?" "37i" "" "0000673115" "00023950" "30" "11025" "0" "11025" "0" "c.11025G>A" "r.(?)" "p.(=)" "38" "" "0000673116" "00023950" "50" "11033" "0" "11033" "0" "c.11033T>C" "r.(?)" "p.(Met3678Thr)" "38" "" "0000673117" "00023950" "70" "11045" "0" "11045" "0" "c.11045T>A" "r.(?)" "p.(Leu3682Gln)" "38" "" "0000673118" "00023950" "90" "11073" "0" "11073" "0" "c.11073dup" "r.(?)" "p.(Ala3692Cysfs*30)" "38" "" "0000673119" "00023950" "90" "11076" "0" "11076" "0" "c.11076dup" "r.(?)" "p.(Ser3693Leufs*29)" "38" "" "0000673120" "00023950" "90" "11078" "0" "11078" "0" "c.11078dup" "r.(?)" "p.(Cys3694Metfs*28)" "38" "" "0000673121" "00023950" "50" "11078" "0" "11078" "0" "c.11078C>T" "r.(?)" "p.(Ser3693Leu)" "38" "" "0000673122" "00023950" "30" "11080" "0" "11080" "0" "c.11080T>C" "r.(?)" "p.(Cys3694Arg)" "38" "" "0000673123" "00023950" "90" "11082" "0" "11082" "0" "c.11082C>A" "r.(?)" "p.(Cys3694*)" "38" "" "0000673124" "00023950" "90" "11090" "0" "11090" "0" "c.11090dup" "r.(?)" "p.(His3697Glnfs*25)" "38" "" "0000673125" "00023950" "90" "11091" "0" "11091" "0" "c.11091del" "r.(?)" "p.(His3697Glnfs*129)" "38" "" "0000673126" "00023950" "50" "11092" "0" "11092" "0" "c.11092G>A" "r.(?)" "p.(Ala3698Thr)" "38" "" "0000673127" "00023950" "90" "11104" "0" "11104" "0" "c.11104C>T" "r.(?)" "p.(Gln3702*)" "38" "" "0000673128" "00023950" "30" "11108" "0" "11108" "0" "c.11108G>C" "r.(?)" "p.(Ser3703Thr)" "38" "" "0000673129" "00023950" "90" "11119" "0" "11119" "0" "c.11119C>T" "r.(?)" "p.(Gln3707*)" "38" "" "0000673130" "00023950" "90" "11129" "0" "11142" "0" "c.11129_11142del" "r.(?)" "p.(His3710Profs*7)" "38" "" "0000673131" "00023950" "90" "11134" "0" "11134" "0" "c.11134del" "r.(?)" "p.(Arg3712Glyfs*114)" "38" "" "0000673132" "00023950" "50" "11134" "0" "11134" "0" "c.11134C>T" "r.(?)" "p.(Arg3712Trp)" "38" "" "0000673133" "00023950" "30" "11143" "0" "11143" "0" "c.11143C>T" "r.(?)" "p.(=)" "38" "" "0000673134" "00023950" "90" "11143" "0" "11143" "0" "c.11143del" "r.(?)" "p.(Leu3715Trpfs*111)" "38" "" "0000673135" "00023950" "70" "11156" "0" "11156" "0" "c.11156G>A" "r.(?)" "p.(Arg3719Gln)" "38" "" "0000673136" "00023950" "90" "11156" "1" "11156" "1" "c.11156+1G>T" "r.spl" "p.?" "38i" "" "0000673137" "00023950" "30" "11156" "11" "11156" "11" "c.11156+11G>A" "r.(?)" "p.(=)" "38i" "" "0000673138" "00023950" "30" "11156" "12" "11156" "12" "c.11156+12C>T" "r.(?)" "p.(=)" "38i" "" "0000673139" "00023950" "30" "11156" "13" "11156" "13" "c.11156+13G>A" "r.(?)" "p.(=)" "38i" "" "0000673140" "00023950" "30" "11157" "-77" "11157" "-77" "c.11157-77C>A" "r.(?)" "p.(=)" "38i" "" "0000673141" "00023950" "30" "11157" "-5" "11157" "-5" "c.11157-5G>T" "r.spl?" "p.(=)" "38i" "" "0000673142" "00023950" "90" "11168" "0" "11169" "0" "c.11168_11169ins19" "r.(?)" "p.(Leu3723fs98*)" "39" "" "0000673143" "00023950" "70" "11176" "0" "11176" "0" "c.11176T>C" "r.(?)" "p.(Trp3726Arg)" "39" "" "0000673144" "00023950" "70" "11177" "0" "11177" "0" "c.11177G>C" "r.(?)" "p.(Trp3726Ser)" "39" "" "0000673145" "00023950" "30" "11182" "0" "11182" "0" "c.11182G>C" "r.(?)" "p.(Ala3728Pro)" "39" "" "0000673146" "00023950" "90" "11185" "0" "11185" "0" "c.11185del" "r.(?)" "p.(His3729Thrfs*97)" "39" "" "0000673147" "00023950" "70" "11192" "0" "11192" "0" "c.11192T>A" "r.(?)" "p.(Leu3731Gln)" "39" "" "0000673148" "00023950" "70" "11204" "0" "11204" "0" "c.11204T>A" "r.(?)" "p.(Val3735Asp)" "39" "" "0000673149" "00023950" "70" "11204" "0" "11209" "0" "c.11204_11209del" "r.(?)" "p.(Val3735_His3736del)" "39" "" "0000673150" "00023950" "90" "11233" "0" "11247" "0" "c.11233_11247del" "r.(?)" "p.(Gly3745_Leu3749del)" "39" "" "0000673151" "00023950" "90" "11241" "0" "11255" "0" "c.11241_11255del" "r.(?)" "p.(Arg3750_Leu3754del)" "39" "" "0000673152" "00023950" "70" "11246" "0" "11248" "0" "c.11246_11248del" "r.(?)" "p.(Leu3749del)" "39" "" "0000673153" "00023950" "70" "11246" "0" "11246" "0" "c.11246T>C" "r.(?)" "p.(Leu3749Pro)" "39" "" "0000673154" "00023950" "70" "11249" "0" "11249" "0" "c.11249G>A" "r.(?)" "p.(Arg3750Gln)" "39" "" "0000673155" "00023950" "70" "11249" "0" "11250" "0" "c.11249_11250delinsAA" "r.(?)" "p.(Arg3750Gln)" "39" "" "0000673156" "00023950" "90" "11249" "0" "11263" "0" "c.11249_11263del" "r.(?)" "p.(Arg3750_Leu3754del)" "39" "" "0000673157" "00023950" "70" "11251" "0" "11251" "0" "c.11251C>A" "r.(?)" "p.(Gln3751Lys)" "39" "" "0000673158" "00023950" "90" "11251" "0" "11251" "0" "c.11251C>T" "r.(?)" "p.(Gln3751*)" "39" "" "0000673159" "00023950" "70" "11252" "0" "11252" "0" "c.11252A>G" "r.(?)" "p.(Gln3751Arg)" "39" "" "0000673160" "00023950" "30" "11257" "0" "11257" "0" "c.11257C>A" "r.(?)" "p.(=)" "39" "" "0000673161" "00023950" "70" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "39" "" "0000673162" "00023950" "70" "11258" "0" "11258" "0" "c.11258G>T" "r.(?)" "p.(Arg3753Leu)" "39" "" "0000673163" "00023950" "70" "11258" "0" "11258" "0" "c.11258G>A" "r.(?)" "p.(Arg3753Gln)" "39" "" "0000673164" "00023950" "30" "11262" "0" "11262" "0" "c.11262G>C" "r.(?)" "p.(=)" "39" "" "0000673165" "00023950" "90" "11269" "1" "11269" "1" "c.11269+1G>C" "r.spl" "p.?" "39i" "" "0000673166" "00023950" "30" "11269" "128" "11269" "128" "c.11269+128C>T" "r.(?)" "p.(=)" "39i" "" "0000673167" "00023950" "90" "11270" "0" "11320" "0" "c.11270_11320del" "r.spl" "p.(Ala3757_Ala3773del)" "39i_40i" "" "0000673168" "00023950" "90" "11270" "0" "11320" "0" "c.11270_11320del" "r.spl" "p.(Ala3757_Ala3773del)" "39i_40i" "" "0000673169" "00023950" "90" "11270" "-1" "11270" "-1" "c.11270-1G>T" "r.spl" "p.?" "39i" "" "0000673170" "00023950" "50" "11285" "0" "11285" "0" "c.11285C>T" "r.(?)" "p.(Pro3762Leu)" "40" "" "0000673171" "00023950" "30" "11292" "0" "11292" "0" "c.11292C>A" "r.(?)" "p.(=)" "40" "" "0000673172" "00023950" "90" "11296" "0" "11296" "0" "c.11296delinsCG" "r.(?)" "p.(Val3767Glyfs*49)" "40" "" "0000673173" "00023950" "90" "11299" "0" "11321" "0" "c.11299_11321del" "r.(?)" "p.(Val3767Argfs*41)" "40" "" "0000673174" "00023950" "90" "11307" "0" "11367" "0" "c.11307_11367del" "r.(?)" "p.(Cys3770Metfs*36)" "40" "" "0000673175" "00023950" "90" "11309" "0" "11309" "0" "c.11309dup" "r.(?)" "p.(Cys3770Trpfs*46)" "40" "" "0000673176" "00023950" "30" "11313" "0" "11313" "0" "c.11313G>A" "r.(?)" "p.(=)" "40" "" "0000673177" "00023950" "90" "11316" "0" "11317" "0" "c.11316_11317insA" "r.(?)" "p.(Ala3773Serfs*43)" "40" "" "0000673178" "00023950" "90" "11322" "0" "11323" "0" "c.11322_11323insAA" "r.(?)" "p.(Gly3775Lysfs*52)" "40" "" "0000673179" "00023950" "90" "11327" "0" "11353" "0" "c.11327_11353del" "r.(?)" "p.(Phe3776_Gly3784del)" "40" "" "0000673180" "00023950" "30" "11333" "0" "11333" "0" "c.11333C>A" "r.(?)" "p.(Thr3778Asn)" "40" "" "0000673181" "00023950" "30" "11337" "0" "11337" "0" "c.11337C>G" "r.(?)" "p.(Ser3779Arg)" "40" "" "0000673182" "00023950" "90" "11319" "0" "11337" "0" "c.11319_11337dup" "r.(?)" "p.(Asp3780Argfs*42)" "40" "" "0000673183" "00023950" "90" "11342" "0" "11349" "0" "c.11342_11349del" "r.(?)" "p.(Tyr3781Trpfs*32)" "40" "" "0000673184" "00023950" "70" "11340" "0" "11345" "0" "c.11340_11345del" "r.(?)" "p.(Tyr3781_Asp3782del)" "40" "" "0000673185" "00023950" "90" "11334" "0" "11343" "0" "c.11334_11343dup" "r.(?)" "p.(Asp3782Glnfs*37)" "40" "" "0000673186" "00023950" "90" "11343" "0" "11343" "0" "c.11343C>G" "r.(?)" "p.(Tyr3781*)" "40" "" "0000673187" "00023950" "70" "11345" "0" "11346" "0" "c.11345_11346insAGA" "r.(?)" "p.(Tyr3781_Asp3782insGlu)" "40" "" "0000673188" "00023950" "90" "11338" "0" "11345" "0" "c.11338_11345dup" "r.(?)" "p.(Asp3782Glufs*47)" "40" "" "0000673189" "00023950" "70" "11345" "0" "11347" "0" "c.11345_11347del" "r.(?)" "p.(Asp3782del)" "40" "" "0000673190" "00023950" "70" "11340" "0" "11345" "0" "c.11340_11345dup" "r.(?)" "p.(Tyr3781_Asp3782dup)" "40" "" "0000673191" "00023950" "30" "11346" "0" "11346" "0" "c.11346C>T" "r.(?)" "p.(=)" "40" "" "0000673192" "00023950" "70" "11346" "0" "11347" "0" "c.11346_11347ins6" "r.(?)" "p.?" "40" "" "0000673193" "00023950" "90" "11340" "0" "11346" "0" "c.11340_11346dup" "r.(?)" "p.(Val3783Leufs*35)" "40" "" "0000673194" "00023950" "90" "11350" "0" "11351" "0" "c.11350_11351insT" "r.(?)" "Gly3784fs31X" "40" "" "0000673195" "00023950" "90" "11355" "0" "11355" "0" "c.11355G>A" "r.(?)" "p.(Trp3785*)" "40" "" "0000673196" "00023950" "30" "11356" "0" "11356" "0" "c.11356G>C" "r.(?)" "p.(Glu3786Gln)" "40" "" "0000673197" "00023950" "90" "11361" "0" "11361" "0" "c.11361del" "r.(?)" "p.(Pro3788Leufs*38)" "40" "" "0000673198" "00023950" "90" "11344" "0" "11363" "0" "c.11344_11363dup" "r.(?)" "p.(His3789Thrfs*44)" "40" "" "0000673199" "00023950" "70" "11370" "0" "11375" "0" "c.11370_11375del" "r.(?)" "p.(Asn3790_Ser3792delinsLys)" "40" "" "0000673200" "00023950" "90" "11371" "0" "11372" "0" "c.11371_11372ins44" "r.(?)" "p.(Gly3791fs49*)" "40" "" "0000673201" "00023950" "30" "11376" "0" "11376" "0" "c.11376G>C" "r.(?)" "p.(=)" "40" "" "0000673202" "00023950" "90" "11379" "0" "11379" "0" "c.11379del" "r.(?)" "p.(Thr3794Argfs*32)" "40" "" "0000673203" "00023950" "90" "11384" "0" "11384" "0" "c.11384G>A" "r.(?)" "p.(Trp3795*)" "40" "" "0000673204" "00023950" "90" "11397" "0" "11398" "0" "c.11397_11398del" "r.(?)" "p.(Pro3800Glyfs*15)" "40" "" "0000673205" "00023950" "90" "11398" "0" "11399" "0" "c.11398_11399ins19" "r.(?)" "p.(Pro3800fs21*)" "40" "" "0000673206" "00023950" "90" "11411" "1" "11411" "1" "c.11411+1del" "r.spl" "p.?" "40i" "" "0000673207" "00023950" "30" "11411" "17" "11411" "30" "c.11411+17_11411+30del" "r.(?)" "p.(=)" "40i" "" "0000673208" "00023950" "30" "11411" "18" "11411" "18" "c.11411+18C>T" "r.(?)" "p.(=)" "40i" "" "0000673209" "00023950" "30" "11411" "53" "11411" "53" "c.11411+53del" "r.(?)" "p.(=)" "40i" "" "0000673210" "00023950" "30" "11411" "60" "11411" "60" "c.11411+60G>C" "r.(?)" "p.(=)" "40i" "" "0000673211" "00023950" "30" "11411" "66" "11411" "66" "c.11411+66C>T" "r.(?)" "p.(=)" "40i" "" "0000673212" "00023950" "30" "11412" "-51" "11412" "-51" "c.11412-51G>A" "r.(?)" "p.(=)" "40i" "" "0000673213" "00023950" "90" "11412" "-2" "11412" "-2" "c.11412-2A>T" "r.spl" "p.?" "40i" "" "0000673214" "00023950" "90" "11412" "-1" "11412" "-1" "c.11412-1G>A" "r.spl" "p.?" "40i" "" "0000673215" "00023950" "90" "11412" "-1" "11412" "-1" "c.11412-1G>C" "r.spl" "p.?" "40i" "" "0000673216" "00023950" "90" "11417" "0" "11417" "0" "c.11417G>A" "r.(?)" "p.(Trp3806*)" "41" "" "0000673217" "00023950" "90" "11418" "0" "11418" "0" "c.11418dup" "r.(?)" "p.(Ser3807Valfs*9)" "41" "" "0000673218" "00023950" "90" "11423" "0" "11423" "0" "c.11423G>A" "r.(?)" "p.(Trp3808*)" "41" "" "0000673219" "00023950" "70" "11443" "0" "11443" "0" "c.11443G>A" "r.(?)" "p.(Asp3815Asn)" "41" "" "0000673220" "00023950" "70" "11449" "0" "11449" "0" "c.11449G>T" "r.(?)" "p.(Gly3817Trp)" "41" "" "0000673221" "00023950" "90" "11453" "0" "11453" "0" "c.11453dup" "r.(?)" "p.(Tyr3819Leufs*142)" "41" "" "0000673222" "00023950" "70" "11456" "0" "11456" "0" "c.11456A>G" "r.(?)" "p.(Tyr3819Cys)" "41" "" "0000673223" "00023950" "90" "11457" "0" "11457" "0" "c.11457C>A" "r.(?)" "p.(Tyr3819*)" "41" "" "0000673224" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821*)" "41" "" "0000673225" "00023950" "70" "11462" "0" "11467" "0" "c.11462_11467del" "r.(?)" "p.(Gln3821_Glu3822del)" "41" "" "0000673226" "00023950" "90" "11466" "0" "11466" "0" "c.11466dup" "r.(?)" "p.(Leu3823Alafs*138)" "41" "" "0000673227" "00023950" "70" "11468" "0" "11468" "0" "c.11468T>C" "r.(?)" "p.(Leu3823Pro)" "41" "" "0000673228" "00023950" "30" "11473" "0" "11473" "0" "c.11473C>T" "r.(?)" "p.(=)" "41" "" "0000673229" "00023950" "70" "11485" "0" "11487" "0" "c.11485_11487del" "r.(?)" "p.(Glu3829del)" "41" "" "0000673230" "00023950" "90" "11482" "0" "11482" "0" "c.11482G>T" "r.(?)" "p.(Glu3828*)" "41" "" "0000673231" "00023950" "90" "11485" "0" "11489" "0" "c.11485_11489dup" "r.(?)" "p.(Ser3830Argfs*117)" "41" "" "0000673232" "00023950" "70" "11501" "0" "11501" "0" "c.11501T>G" "r.(?)" "p.(Leu3834Arg)" "41" "" "0000673233" "00023950" "70" "11510" "0" "11510" "0" "c.11510T>G" "r.(?)" "p.(Leu3837Arg)" "41" "" "0000673234" "00023950" "90" "11512" "0" "11512" "0" "c.11512C>T" "r.(?)" "p.(Gln3838*)" "41" "" "0000673235" "00023950" "30" "11520" "0" "11520" "0" "c.11520C>A" "r.(?)" "p.(His3840Gln)" "41" "" "0000673236" "00023950" "90" "11520" "0" "11521" "0" "c.11520_11521ins15" "r.(?)" "p.?" "41" "" "0000673237" "00023950" "30" "11523" "0" "11523" "0" "c.11523C>T" "r.(?)" "p.(=)" "41" "" "0000673238" "00023950" "70" "11525" "0" "11525" "0" "c.11525G>C" "r.(?)" "p.(Trp3842Ser)" "41" "" "0000673239" "00023950" "90" "11525" "0" "11525" "0" "c.11525G>A" "r.(?)" "p.(Trp3842*)" "41" "" "0000673240" "00023950" "90" "11537" "1" "11537" "1" "c.11537+1G>T" "r.spl" "p.?" "41i" "" "0000673241" "00023950" "90" "11537" "2" "11537" "2" "c.11537+2T>G" "r.spl" "p.?" "41i" "" "0000673242" "00023950" "30" "11537" "3" "11537" "5" "c.11537+3_11537+5dup" "r.spl?" "p.(=)" "41i" "" "0000673243" "00023950" "30" "11537" "5" "11537" "7" "c.11537+5_11537+7dup" "r.(?)" "p.(=)" "41i" "" "0000673244" "00023950" "30" "11537" "17" "11537" "17" "c.11537+17C>T" "r.(?)" "p.(=)" "41i" "" "0000673245" "00023950" "30" "11537" "20" "11537" "20" "c.11537+20C>T" "r.(?)" "p.(=)" "41i" "" "0000673246" "00023950" "30" "11537" "31" "11537" "31" "c.11537+31del" "r.(?)" "p.(=)" "41i" "" "0000673247" "00023950" "30" "11538" "-55" "11538" "-55" "c.11538-55T>G" "r.(?)" "p.(=)" "41i" "" "0000673248" "00023950" "30" "11538" "-54" "11538" "-54" "c.11538-54C>G" "r.(?)" "p.(=)" "41i" "" "0000673249" "00023950" "30" "11538" "-11" "11538" "-11" "c.11538-11C>T" "r.(?)" "p.(=)" "41i" "" "0000673250" "00023950" "70" "11538" "-10" "11538" "-10" "c.11538-10C>A" "r.spl" "p.(=)" "41i" "" "0000673251" "00023950" "90" "11538" "-2" "11538" "-2" "c.11538-2A>G" "r.spl" "p.?" "41i" "" "0000673252" "00023950" "90" "11538" "-1" "11538" "-1" "c.11538-1G>A" "r.spl" "p.?" "41i" "" "0000673253" "00023950" "90" "11554" "0" "11554" "0" "c.11554del" "r.(?)" "p.(Leu3852Trpfs*93)" "42" "" "0000673254" "00023950" "70" "11555" "0" "11555" "0" "c.11555T>C" "r.(?)" "p.(Leu3852Pro)" "42" "" "0000673255" "00023950" "70" "11557" "0" "11557" "0" "c.11557G>A" "r.(?)" "p.(Glu3853Lys)" "42" "" "0000673256" "00023950" "90" "11588" "0" "11588" "0" "c.11588dup" "r.(?)" "p.(His3864Alafs*97)" "42" "" "0000673257" "00023950" "30" "11595" "0" "11595" "0" "c.11595C>T" "r.(?)" "p.(=)" "42" "" "0000673258" "00023950" "90" "11612" "0" "11637" "0" "c.11612_11637del" "r.(?)" "p.(Leu3871Profs*81)" "42" "" "0000673259" "00023950" "70" "11614" "0" "11614" "0" "c.11614G>C" "r.(?)" "p.(Glu3872Gln)" "42" "" "0000673260" "00023950" "90" "11614" "0" "11614" "0" "c.11614G>T" "r.(?)" "p.(Glu3872*)" "42" "" "0000673261" "00023950" "30" "11616" "0" "11616" "0" "c.11616G>A" "r.(?)" "p.(=)" "42" "" "0000673262" "00023950" "90" "11621" "0" "11621" "0" "c.11621del" "r.(?)" "p.(Pro3874Argfs*71)" "42" "" "0000673263" "00023950" "90" "11623" "0" "11645" "0" "c.11623_11645del" "r.(?)" "p.(Ala3875Profs*78)" "42" "" "0000673264" "00023950" "30" "11627" "0" "11627" "0" "c.11627C>T" "r.(?)" "p.(Ala3876Val)" "42" "" "0000673265" "00023950" "90" "11628" "0" "11628" "0" "c.11628del" "r.(?)" "p.(Gly3877Alafs*68)" "42" "" "0000673266" "00023950" "90" "11630" "0" "11630" "0" "c.11630del" "r.(?)" "p.(Gly3877Alafs*68)" "42" "" "0000673267" "00023950" "30" "11652" "0" "11652" "0" "c.11652C>T" "r.(?)" "p.(=)" "42" "" "0000673268" "00023950" "70" "11654" "0" "11654" "0" "c.11654T>G" "r.(?)" "p.(Val3885Gly)" "42" "" "0000673269" "00023950" "90" "11648" "0" "11660" "0" "c.11648_11660dup" "r.(?)" "p.(Phe3888Glnfs*77)" "42" "" "0000673270" "00023950" "90" "11633" "0" "11660" "0" "c.11633_11660dup" "r.(?)" "p.(Phe3888Argfs*82)" "42" "" "0000673271" "00023950" "90" "11669" "0" "11673" "0" "c.11669_11673dup" "r.(?)" "p.(Arg3892Cysfs*55)" "42" "" "0000673272" "00023950" "30" "11682" "0" "11682" "0" "c.11682C>T" "r.(?)" "p.(=)" "42" "" "0000673273" "00023950" "30" "11689" "0" "11689" "0" "c.11689C>T" "r.(?)" "p.(Leu3897Phe)" "42" "" "0000673274" "00023950" "90" "11693" "0" "11693" "0" "c.11693C>A" "r.(?)" "p.(Ser3898*)" "42" "" "0000673275" "00023950" "30" "11700" "0" "11700" "0" "c.11700T>C" "r.(?)" "p.(=)" "42" "" "0000673276" "00023950" "90" "11703" "0" "11703" "0" "c.11703dup" "r.(?)" "p.(Leu3902Alafs*59)" "42" "" "0000673277" "00023950" "50" "11711" "0" "11711" "0" "c.11711C>T" "r.(?)" "p.(Ser3904Leu)" "42" "" "0000673278" "00023950" "50" "11711" "0" "11711" "0" "c.11711C>G" "r.(?)" "p.(Ser3904Trp)" "42" "" "0000673280" "00023950" "30" "11712" "8" "11712" "8" "c.11712+8C>T" "r.(?)" "p.(=)" "42i" "" "0000673281" "00023950" "30" "11712" "28" "11712" "28" "c.11712+28G>C" "r.(?)" "p.(=)" "42i" "" "0000673282" "00023950" "30" "11712" "29" "11712" "29" "c.11712+29C>T" "r.(?)" "p.(=)" "42i" "" "0000673283" "00023950" "30" "11712" "33" "11712" "33" "c.11712+33C>A" "r.(?)" "p.(=)" "42i" "" "0000673284" "00023950" "50" "11713" "-9" "11713" "-9" "c.11713-9C>A" "r.(?)" "p.(=)" "42i" "" "0000673285" "00023950" "70" "11713" "-7" "11713" "-7" "c.11713-7C>G" "r.spl" "p.(=)" "42i" "" "0000673286" "00023950" "30" "11713" "-3" "11713" "-3" "c.11713-3C>T" "r.spl?" "p.(=)" "42i" "" "0000673287" "00023950" "30" "11717" "0" "11717" "0" "c.11717G>T" "r.(?)" "p.(Cys3906Phe)" "43" "" "0000673288" "00023950" "90" "11719" "0" "11787" "0" "c.11719_11787del" "r.(?)" "p.(Leu3907_Arg3929del)" "43" "" "0000673289" "00023950" "90" "11722" "0" "11722" "0" "c.11722dup" "r.(?)" "p.(Leu3908Profs*53)" "43" "" "0000673290" "00023950" "70" "11723" "0" "11723" "0" "c.11723T>G" "r.(?)" "p.(Leu3908Arg)" "43" "" "0000673291" "00023950" "30" "11733" "0" "11733" "0" "c.11733C>A" "r.(?)" "p.(=)" "43" "" "0000673292" "00023950" "90" "11745" "0" "11745" "0" "c.11745del" "r.(?)" "p.(Val3916Trpfs*29)" "43" "" "0000673293" "00023950" "90" "11752" "0" "11752" "0" "c.11752G>T" "r.(?)" "p.(Glu3918*)" "43" "" "0000673294" "00023950" "90" "11766" "0" "11766" "0" "c.11766G>A" "r.(?)" "p.(Trp3922*)" "43" "" "0000673295" "00023950" "90" "11773" "0" "11773" "0" "c.11773del" "r.(?)" "p.(Glu3925Lysfs*20)" "43" "" "0000673296" "00023950" "50" "11774" "0" "11774" "0" "c.11774A>C" "r.(?)" "p.(Glu3925Ala)" "43" "" "0000673297" "00023950" "90" "11783" "0" "11783" "0" "c.11783G>A" "r.(?)" "p.(Trp3928*)" "43" "" "0000673298" "00023950" "30" "11799" "0" "11799" "0" "c.11799C>T" "r.(?)" "p.(=)" "43" "" "0000673299" "00023950" "90" "11799" "0" "11799" "0" "c.11799del" "r.(?)" "p.(Gly3934Glufs*11)" "43" "" "0000673300" "00023950" "90" "11802" "0" "11803" "0" "c.11802_11803del" "r.(?)" "p.(Ala3935Leufs*25)" "43" "" "0000673301" "00023950" "30" "11814" "0" "11814" "0" "c.11814G>C" "r.(?)" "p.(=)" "43" "" "0000673302" "00023950" "70" "11831" "0" "11831" "0" "c.11831T>C" "r.(?)" "p.(Leu3944Pro)" "43" "" "0000673303" "00023950" "90" "11844" "0" "11944" "0" "c.11844_11944del" "r.(?)" "p.(Leu3950Glufs*173)" "43" "" "0000673304" "00023950" "90" "11856" "0" "11857" "0" "c.11856_11857ins19" "r.(?)" "p.(Arg3952fs13*)" "43" "" "0000673305" "00023950" "50" "11860" "0" "11860" "0" "c.11860G>C" "r.(?)" "p.(Ala3954Pro)" "43" "" "0000673306" "00023950" "90" "11863" "0" "11863" "0" "c.11863C>T" "r.(?)" "p.(Gln3955*)" "43" "" "0000673307" "00023950" "30" "11864" "0" "11864" "0" "c.11864A>G" "r.(?)" "p.(Gln3955Arg)" "43" "" "0000673308" "00023950" "30" "11866" "0" "11866" "0" "c.11866C>T" "r.(?)" "p.(=)" "43" "" "0000673309" "00023950" "50" "11867" "0" "11867" "0" "c.11867T>G" "r.(?)" "p.(Leu3956Arg)" "43" "" "0000673310" "00023950" "30" "11870" "0" "11870" "0" "c.11870G>A" "r.(?)" "p.(Gly3957Asp)" "43" "" "0000673311" "00023950" "90" "11884" "0" "11884" "0" "c.11884C>T" "r.(?)" "p.(Gln3962*)" "43" "" "0000673312" "00023950" "90" "11885" "0" "11885" "0" "c.11885del" "r.(?)" "p.(Gln3962Argfs*22)" "43" "" "0000673313" "00023950" "70" "11887" "0" "11887" "0" "c.11887T>C" "r.(?)" "p.(Trp3963Arg)" "43" "" "0000673314" "00023950" "50" "11893" "0" "11893" "0" "c.11893C>A" "r.(?)" "p.(Arg3965Ser)" "43" "" "0000673315" "00023950" "90" "11911" "0" "11928" "0" "c.11911_11928del" "r.(?)" "p.(Pro3971_Ser3976del)" "43" "" "0000673316" "00023950" "30" "11910" "0" "11910" "0" "c.11910C>T" "r.(?)" "p.(=)" "43" "" "0000673317" "00023950" "30" "11916" "0" "11916" "0" "c.11916C>G" "r.(?)" "p.(=)" "43" "" "0000673318" "00023950" "30" "11916" "0" "11916" "0" "c.11916C>T" "r.(?)" "p.(=)" "43" "" "0000673319" "00023950" "70" "11927" "0" "11927" "0" "c.11927G>T" "r.(?)" "p.(Ser3976Ile)" "43" "" "0000673320" "00023950" "30" "11934" "0" "11934" "0" "c.11934C>T" "r.(?)" "p.(=)" "43" "" "0000673321" "00023950" "90" "11935" "0" "11935" "0" "c.11935C>T" "r.(?)" "p.(Gln3979*)" "43" "" "0000673322" "00023950" "90" "11943" "0" "11967" "0" "c.11943_11967del" "r.(?)" "p.(Gln3982Trpfs*49)" "43" "" "0000673323" "00023950" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Gln3982*)" "43" "" "0000673324" "00023950" "30" "11960" "0" "11960" "0" "c.11960C>G" "r.(?)" "p.(Ala3987Gly)" "43" "" "0000673325" "00023950" "30" "11961" "0" "11961" "0" "c.11961C>T" "r.(?)" "p.(=)" "43" "" "0000673326" "00023950" "90" "11972" "0" "11972" "0" "c.11972del" "r.(?)" "p.(Ala3991Glyfs*48)" "43" "" "0000673327" "00023950" "50" "11972" "0" "11972" "0" "c.11972C>T" "r.(?)" "p.(Ala3991Val)" "43" "" "0000673328" "00023950" "30" "11976" "0" "11976" "0" "c.11976C>G" "r.(?)" "p.(=)" "43" "" "0000673329" "00023950" "70" "11985" "0" "11993" "0" "c.11985_11993dup" "r.(?)" "p.(Phe3996_Leu3998dup)" "43" "" "0000673330" "00023950" "90" "12003" "1" "12003" "1" "c.12003+1G>A" "r.spl" "p.?" "43i" "" "0000673331" "00023950" "90" "12003" "2" "12003" "2" "c.12003+2T>G" "r.(11713_12003)del" "p.(Val3905_Lys4001del)" "43i" "" "0000673332" "00023950" "70" "12003" "14" "12003" "33" "c.12003+14_12003+33del" "r.(11713_12003)del" "p.(Val3905_Lys4001del)" "43i" "" "0000673333" "00023950" "70" "12003" "2" "12003" "2" "c.12003+2T>G" "r.(11713_12003)del" "p.(Val3905_Lys4001del)" "43i" "" "0000673334" "00023950" "30" "12003" "38" "12003" "38" "c.12003+38A>C" "r.(?)" "p.(=)" "43i" "" "0000673335" "00023950" "30" "12003" "42" "12003" "42" "c.12003+42C>A" "r.(?)" "p.(=)" "43i" "" "0000673336" "00023950" "30" "12004" "-34" "12004" "-34" "c.12004-34C>A" "r.(?)" "p.(=)" "43i" "" "0000673337" "00023950" "90" "12004" "-2" "12004" "-2" "c.12004-2A>G" "r.spl" "p.?" "43i" "" "0000673338" "00023950" "90" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004*)" "44" "" "0000673339" "00023950" "90" "12013" "0" "12013" "0" "c.12013C>T" "r.(?)" "p.(Gln4005*)" "44" "" "0000673340" "00023950" "70" "12019" "0" "12019" "0" "c.12019C>T" "r.(?)" "p.(Arg4007Cys)" "44" "" "0000673341" "00023950" "50" "12022" "0" "12022" "0" "c.12022T>C" "r.(?)" "p.(Phe4008Leu)" "44" "" "0000673342" "00023950" "90" "12031" "0" "12031" "0" "c.12031C>T" "r.(?)" "p.(Gln4011*)" "44" "" "0000673343" "00023950" "90" "12035" "0" "12035" "0" "c.12035G>A" "r.(?)" "p.(Trp4012*)" "44" "" "0000673344" "00023950" "90" "12036" "0" "12036" "0" "c.12036G>A" "r.(?)" "p.(Trp4012*)" "44" "" "0000673345" "00023950" "90" "12044" "0" "12045" "0" "c.12044_12045del" "r.(?)" "p.(Phe4015Trpfs*141)" "44" "" "0000673346" "00023950" "30" "12054" "0" "12054" "0" "c.12054A>G" "r.(?)" "p.(=)" "44" "" "0000673347" "00023950" "90" "12054" "0" "12055" "0" "c.12054_12055del" "r.(?)" "p.(Leu4019Metfs*137)" "44" "" "0000673348" "00023950" "90" "12056" "0" "12056" "0" "c.12056T>G" "r.(?)" "p.(Leu4019*)" "44" "" "0000673349" "00023950" "90" "12061" "0" "12061" "0" "c.12061C>T" "r.(?)" "p.(Arg4021*)" "44" "" "0000673350" "00023950" "90" "12073" "0" "12073" "0" "c.12073G>T" "r.(?)" "p.(Glu4025*)" "44" "" "0000673351" "00023950" "30" "12075" "0" "12075" "0" "c.12075G>A" "r.(?)" "p.(=)" "44" "" "0000673352" "00023950" "30" "12078" "0" "12078" "0" "c.12078C>T" "r.(?)" "p.(=)" "44" "" "0000673353" "00023950" "30" "12079" "0" "12079" "0" "c.12079C>T" "r.(?)" "p.(=)" "44" "" "0000673354" "00023950" "90" "12085" "0" "12085" "0" "c.12085dup" "r.(?)" "p.(Val4029Glyfs*128)" "44" "" "0000673355" "00023950" "90" "12085" "0" "12121" "0" "c.12085_12121del" "r.(?)" "p.(Val4029Profs*157)" "44" "" "0000673356" "00023950" "50" "12085" "0" "12085" "0" "c.12085G>A" "r.(?)" "p.(Val4029Ile)" "44" "" "0000673357" "00023950" "50" "12095" "0" "12095" "0" "c.12095G>A" "r.(?)" "p.(Gly4032Asp)" "44" "" "0000673358" "00023950" "30" "12099" "0" "12099" "0" "c.12099G>C" "r.(?)" "p.(=)" "44" "" "0000673359" "00023950" "30" "12108" "0" "12108" "0" "c.12108C>T" "r.(?)" "p.(=)" "44" "" "0000673360" "00023950" "90" "12120" "0" "12120" "0" "c.12120C>A" "r.(?)" "p.(Tyr4040*)" "44" "" "0000673361" "00023950" "90" "12124" "0" "12124" "0" "c.12124C>T" "r.(?)" "p.(Gln4042*)" "44" "" "0000673362" "00023950" "30" "12133" "0" "12133" "0" "c.12133A>G" "r.(?)" "p.(Ile4045Val)" "44" "" "0000673363" "00023950" "90" "12138" "1" "12138" "1" "c.12138+1G>A" "r.spl" "p.?" "44i" "" "0000673364" "00023950" "90" "12138" "1" "12138" "1" "c.12138+1G>C" "r.spl" "p.?" "44i" "" "0000673365" "00023950" "90" "12138" "2" "12138" "2" "c.12138+2T>C" "r.spl" "p.?" "44i" "" "0000673366" "00023950" "90" "12138" "2" "12138" "2" "c.12138+2T>G" "r.spl" "p.?" "44i" "" "0000673367" "00023950" "70" "12138" "3" "12138" "6" "c.12138+3_12138+6del" "r.spl" "p.?" "44i" "" "0000673368" "00023950" "30" "12138" "17" "12138" "17" "c.12138+17C>T" "r.(?)" "p.(=)" "44i" "" "0000673369" "00023950" "30" "12138" "22" "12138" "22" "c.12138+22del" "r.(?)" "p.(=)" "44i" "" "0000673370" "00023950" "30" "12138" "36" "12138" "37" "c.12138+36_12138+37ins5" "r.(?)" "p.?" "44i" "" "0000673371" "00023950" "30" "12138" "44" "12138" "44" "c.12138+44C>A" "r.(?)" "p.(=)" "44i" "" "0000673372" "00023950" "30" "12139" "-5" "12139" "-5" "c.12139-5C>T" "r.spl?" "p.(=)" "44i" "" "0000673373" "00023950" "30" "12139" "-3" "12139" "-3" "c.12139-3C>T" "r.spl?" "p.(=)" "44i" "" "0000673374" "00023950" "70" "12139" "-3" "12139" "-3" "c.12139-3C>G" "r.spl?" "p.?" "44i" "" "0000673375" "00023950" "90" "12139" "-2" "12139" "-2" "c.12139-2A>C" "r.spl" "p.?" "44i" "" "0000673376" "00023950" "90" "12139" "-1" "12139" "-1" "c.12139-1G>A" "r.spl" "p.?" "44i" "" "0000673377" "00023950" "90" "12139" "-1" "12139" "-1" "c.12139-1G>C" "r.spl" "p.?" "44i" "" "0000673378" "00023950" "90" "12146" "0" "12155" "0" "c.12146_12155del" "r.(?)" "p.(Ser4049Trpfs*146)" "45" "" "0000673379" "00023950" "30" "12153" "0" "12153" "0" "c.12153T>C" "r.(?)" "p.(=)" "45" "" "0000673380" "00023950" "90" "12155" "0" "12156" "0" "c.12155_12156del" "r.(?)" "p.(Val4052Glyfs*104)" "45" "" "0000673381" "00023950" "30" "12161" "0" "12161" "0" "c.12161C>T" "r.(?)" "p.(Ser4054Phe)" "45" "" "0000673382" "00023950" "90" "12167" "0" "12167" "0" "c.12167G>A" "r.(?)" "p.(Trp4056*)" "45" "" "0000673383" "00023950" "30" "12176" "0" "12176" "0" "c.12176C>T" "r.(?)" "p.(Ala4059Val)" "45" "" "0000673384" "00023950" "90" "12174" "0" "12177" "0" "c.12174_12177dup" "r.(?)" "p.(Gln4060Glyfs*98)" "45" "" "0000673385" "00023950" "90" "12178" "0" "12178" "0" "c.12178dup" "r.(?)" "p.(Gln4060Profs*97)" "45" "" "0000673386" "00023950" "90" "12178" "0" "12178" "0" "c.12178C>T" "r.(?)" "p.(Gln4060*)" "45" "" "0000673387" "00023950" "30" "12198" "0" "12198" "0" "c.12198C>T" "r.(?)" "p.(=)" "45" "" "0000673388" "00023950" "90" "12198" "0" "12207" "0" "c.12198_12207del" "r.(?)" "p.(Cys4066Trpfs*129)" "45" "" "0000673389" "00023950" "30" "12201" "0" "12201" "0" "c.12201T>C" "r.(?)" "p.(=)" "45" "" "0000673390" "00023950" "90" "12215" "0" "12216" "0" "c.12215_12216del" "r.(?)" "p.(Ser4072Tyrfs*84)" "45" "" "0000673391" "00023950" "30" "12219" "0" "12219" "0" "c.12219C>A" "r.(?)" "p.(=)" "45" "" "0000673392" "00023950" "90" "12220" "0" "12221" "0" "c.12220_12221del" "r.(?)" "p.(Leu4074Valfs*82)" "45" "" "0000673393" "00023950" "30" "12220" "0" "12220" "0" "c.12220C>A" "r.(?)" "p.(Leu4074Met)" "45" "" "0000673394" "00023950" "90" "12224" "0" "12225" "0" "c.12224_12225del" "r.(?)" "p.(Cys4075Serfs*81)" "45" "" "0000673395" "00023950" "90" "12224" "0" "12225" "0" "c.12224_12225insGGGCTCTCTACCCTGTGTCC" "r.(?)" "p.(Cys4075Trpfs*130)" "45" "" "0000673396" "00023950" "90" "12239" "0" "12239" "0" "c.12239G>A" "r.(?)" "p.(Trp4080*)" "45" "" "0000673397" "00023950" "90" "12240" "0" "12240" "0" "c.12240G>A" "r.(?)" "p.(Trp4080*)" "45" "" "0000673398" "00023950" "90" "12248" "0" "12248" "0" "c.12248C>G" "r.(?)" "p.(Ser4083*)" "45" "" "0000673399" "00023950" "30" "12251" "0" "12251" "0" "c.12251C>G" "r.(?)" "p.(Pro4084Arg)" "45" "" "0000673400" "00023950" "30" "12253" "0" "12253" "0" "c.12253C>T" "r.(?)" "p.(=)" "45" "" "0000673401" "00023950" "90" "12261" "0" "12261" "0" "c.12261T>A" "r.(?)" "p.(Cys4087*)" "45" "" "0000673402" "00023950" "90" "12262" "0" "12263" "0" "c.12262_12263insA" "r.(?)" "p.(Val4088Aspfs*69)" "45" "" "0000673403" "00023950" "90" "12263" "0" "12264" "0" "c.12263_12264del" "r.(?)" "p.(Val4088Glyfs*68)" "45" "" "0000673404" "00023950" "30" "12264" "0" "12264" "0" "c.12264G>A" "r.(?)" "p.(=)" "45" "" "0000673405" "00023950" "90" "12263" "0" "12264" "0" "c.12263_12264dup" "r.(?)" "p.(Gly4089Trpfs*110)" "45" "" "0000673406" "00023950" "90" "12266" "0" "12267" "0" "c.12266_12267del" "r.(?)" "p.(Gly4089Alafs*67)" "45" "" "0000673407" "00023950" "30" "12270" "0" "12270" "0" "c.12270C>G" "r.(?)" "p.(=)" "45" "" "0000673408" "00023950" "90" "12274" "0" "12274" "0" "c.12274del" "r.(?)" "p.(Ala4092Hisfs*106)" "45" "" "0000673409" "00023950" "30" "12276" "0" "12276" "0" "c.12276A>C" "r.(?)" "p.(=)" "45" "" "0000673410" "00023950" "30" "12276" "0" "12276" "0" "c.12276A>G" "r.(?)" "p.(=)" "45" "" "0000673411" "00023950" "30" "12276" "0" "12276" "0" "c.12276A>T" "r.(?)" "p.(=)" "45" "" "0000673412" "00023950" "50" "12277" "0" "12277" "0" "c.12277C>G" "r.(?)" "p.(Leu4093Val)" "45" "" "0000673413" "00023950" "50" "12286" "0" "12286" "0" "c.12286T>C" "r.(?)" "p.(Trp4096Arg)" "45" "" "0000673414" "00023950" "90" "12287" "0" "12287" "0" "c.12287G>A" "r.(?)" "p.(Trp4096*)" "45" "" "0000673415" "00023950" "30" "12292" "0" "12292" "0" "c.12292G>A" "r.(?)" "p.(Ala4098Thr)" "45" "" "0000673416" "00023950" "30" "12305" "0" "12305" "0" "c.12305G>A" "r.(?)" "p.(Gly4102Glu)" "45" "" "0000673417" "00023950" "90" "12307" "0" "12307" "0" "c.12307dup" "r.(?)" "p.(Ala4103Glyfs*54)" "45" "" "0000673418" "00023950" "90" "12310" "0" "12313" "0" "c.12310_12313del" "r.(?)" "p.(Val4104Phefs*93)" "45" "" "0000673419" "00023950" "90" "12313" "0" "12313" "0" "c.12313dup" "r.(?)" "p.(Ile4105Asnfs*52)" "45" "" "0000673420" "00023950" "50" "12317" "0" "12317" "0" "c.12317T>C" "r.(?)" "p.(Leu4106Pro)" "45" "" "0000673421" "00023950" "90" "12330" "0" "12330" "0" "c.12330C>G" "r.(?)" "p.(Tyr4110*)" "45" "" "0000673422" "00023950" "90" "12332" "0" "12332" "0" "c.12332del" "r.(?)" "p.(His4111Profs*87)" "45" "" "0000673423" "00023950" "30" "12337" "0" "12337" "0" "c.12337T>C" "r.(?)" "p.(=)" "45" "" "0000673424" "00023950" "30" "12339" "0" "12339" "0" "c.12339G>C" "r.(?)" "p.(Leu4113Phe)" "45" "" "0000673425" "00023950" "30" "12360" "0" "12360" "0" "c.12360G>A" "r.(?)" "p.(=)" "45" "" "0000673426" "00023950" "30" "12370" "0" "12370" "0" "c.12370C>T" "r.(?)" "p.(Pro4124Ser)" "45" "" "0000673427" "00023950" "90" "12373" "0" "12373" "0" "c.12373C>T" "r.(?)" "p.(Gln4125*)" "45" "" "0000673428" "00023950" "90" "12381" "0" "12381" "0" "c.12381C>G" "r.(?)" "p.(Tyr4127*)" "45" "" "0000673429" "00023950" "90" "12382" "0" "12382" "0" "c.12382G>T" "r.(?)" "p.(Glu4128*)" "45" "" "0000673430" "00023950" "90" "12385" "0" "12385" "0" "c.12385del" "r.(?)" "p.(Met4129Trpfs*69)" "45" "" "0000673431" "00023950" "70" "12389" "0" "12391" "0" "c.12389_12391del" "r.(?)" "p.(Val4130del)" "45" "" "0000673432" "00023950" "70" "12391" "0" "12393" "0" "c.12391_12393del" "r.(?)" "p.(Glu4131del)" "45" "" "0000673433" "00023950" "70" "12396" "0" "12398" "0" "c.12396_12398del" "r.(?)" "p.(Leu4132del)" "45" "" "0000673434" "00023950" "90" "12400" "0" "12400" "0" "c.12400del" "r.(?)" "p.(Leu4134Cysfs*64)" "45" "" "0000673435" "00023950" "90" "12406" "0" "12414" "0" "c.12406_12414del" "r.(?)" "p.(Arg4136_Arg4138del)" "45" "" "0000673436" "00023950" "30" "12402" "0" "12402" "0" "c.12402G>A" "r.(?)" "p.(=)" "45" "" "0000673437" "00023950" "70" "12406" "0" "12406" "0" "c.12406A>G" "r.(?)" "p.(Arg4136Gly)" "45" "" "0000673438" "00023950" "30" "12409" "0" "12409" "0" "c.12409C>T" "r.(?)" "p.(=)" "45" "" "0000673439" "00023950" "90" "12409" "0" "12409" "0" "c.12409del" "r.(?)" "p.(Leu4137Cysfs*61)" "45" "" "0000673440" "00023950" "90" "12409" "0" "12420" "0" "c.12409_12420del" "r.(?)" "p.(Leu4137_Trp4140del)" "45" "" "0000673441" "00023950" "70" "12410" "0" "12410" "0" "c.12410T>C" "r.(?)" "p.(Leu4137Pro)" "45" "" "0000673442" "00023950" "50" "12413" "0" "12413" "0" "c.12413G>A" "r.(?)" "p.(Arg4138His)" "45" "" "0000673443" "00023950" "70" "12416" "0" "12416" "0" "c.12416T>C" "r.(?)" "p.(Leu4139Pro)" "45" "" "0000673444" "00023950" "90" "12420" "0" "12420" "0" "c.12420G>A" "r.(?)" "p.(Trp4140*)" "45" "" "0000673445" "00023950" "90" "12421" "0" "12421" "0" "c.12421dup" "r.(?)" "p.(Met4141Asnfs*16)" "45" "" "0000673446" "00023950" "50" "12431" "0" "12431" "0" "c.12431G>C" "r.(?)" "p.(Ser4144Thr)" "45" "" "0000673447" "00023950" "30" "12436" "0" "12436" "0" "c.12436G>A" "r.(?)" "p.(Val4146Ile)" "45" "" "0000673448" "00023950" "30" "12444" "23" "12444" "23" "c.12444+23dup" "r.(?)" "p.(=)" "45i" "" "0000673449" "00023950" "30" "12444" "23" "12444" "23" "c.12444+23dup" "r.(?)" "p.(=)" "45i" "" "0000673450" "00023950" "30" "12444" "34" "12444" "34" "c.12444+34G>T" "r.(?)" "p.(=)" "45i" "" "0000673451" "00023950" "50" "12444" "34" "12444" "47" "c.12444+34_12444+47del" "r.(?)" "p.(=)" "45i" "" "0000673452" "00023950" "70" "12445" "-34" "12445" "-10" "c.12445-34_12445-10del" "r.spl" "p.(=)" "45i" "" "0000673453" "00023950" "70" "12445" "0" "12446" "0" "c.12445_12446ins90" "r.spl" "p.?" "45i" "" "0000673454" "00023950" "30" "12445" "-9" "12445" "-9" "c.12445-9C>T" "r.(?)" "p.(=)" "45i" "" "0000673455" "00023950" "90" "12445" "-5" "12451" "0" "c.12445-5_12451del" "r.spl" "p.?" "45i_46i" "" "0000673456" "00023950" "70" "12445" "-3" "12445" "-3" "c.12445-3C>G" "r.spl?" "p.?" "45i" "" "0000673457" "00023950" "90" "12445" "-1" "12445" "-1" "c.12445-1G>A" "r.spl" "p.?" "45i" "" "0000673458" "00023950" "30" "12447" "0" "12447" "0" "c.12447C>T" "r.spl?" "p.(=)" "46" "" "0000673459" "00023950" "70" "12448" "0" "12448" "0" "c.12448C>T" "r.spl?" "p.(Arg4150Cys)" "46" "" "0000673460" "00023950" "50" "12449" "0" "12449" "0" "c.12449G>A" "r.spl?" "p.(Arg4150His)" "46" "" "0000673461" "00023950" "90" "12445" "-5" "12451" "0" "c.12445-5_12451dup" "r.spl" "p.?" "46" "" "0000673462" "00023950" "50" "12455" "0" "12455" "0" "c.12455A>C" "r.(?)" "p.(Lys4152Thr)" "46" "" "0000673463" "00023950" "30" "12459" "0" "12459" "0" "c.12459C>T" "r.(?)" "p.(=)" "46" "" "0000673464" "00023950" "70" "12460" "0" "12460" "0" "c.12460C>T" "r.(?)" "p.(Arg4154Cys)" "46" "" "0000673465" "00023950" "70" "12463" "0" "12463" "0" "c.12463T>G" "r.(?)" "p.(Phe4155Val)" "46" "" "0000673466" "00023950" "50" "12465" "0" "12465" "0" "c.12465T>G" "r.(?)" "p.(Phe4155Leu)" "46" "" "0000673467" "00023950" "50" "12469" "0" "12469" "0" "c.12469G>A" "r.(?)" "p.(Gly4157Arg)" "46" "" "0000673468" "00023950" "50" "12473" "0" "12473" "0" "c.12473T>C" "r.(?)" "p.(Met4158Thr)" "46" "" "0000673469" "00023950" "90" "12483" "0" "12493" "0" "c.12483_12493del" "r.(?)" "p.(Pro4162Leufs*44)" "46" "" "0000673470" "00023950" "30" "12486" "0" "12486" "0" "c.12486C>A" "r.(?)" "p.(=)" "46" "" "0000673471" "00023950" "30" "12489" "0" "12489" "0" "c.12489T>G" "r.(?)" "p.(=)" "46" "" "0000673472" "00023950" "90" "12514" "0" "12514" "0" "c.12514del" "r.(?)" "p.(Ser4172Profs*26)" "46" "" "0000673473" "00023950" "30" "12526" "0" "12526" "0" "c.12526C>A" "r.(?)" "p.(Pro4176Thr)" "46" "" "0000673474" "00023950" "90" "12509" "0" "12531" "0" "c.12509_12531dup" "r.(?)" "p.(Pro4178Argfs*28)" "46" "" "0000673475" "00023950" "90" "12530" "0" "12530" "0" "c.12530dup" "r.(?)" "p.(Pro4178Thrfs*32)" "46" "" "0000673476" "00023950" "90" "12531" "0" "12531" "0" "c.12531del" "r.(?)" "p.(Ser4179Alafs*19)" "46" "" "0000673477" "00023950" "90" "12531" "0" "12531" "0" "c.12531dup" "r.(?)" "p.(Pro4178Thrfs*32)" "46" "" "0000673478" "00023950" "90" "12534" "0" "12537" "0" "c.12534_12537del" "r.(?)" "p.(Ser4179Leufs*18)" "46" "" "0000673479" "00023950" "90" "12544" "0" "12560" "0" "c.12544_12560del" "r.(?)" "p.(Ser4182Leufs*22)" "46" "" "0000673480" "00023950" "30" "12546" "0" "12546" "0" "c.12546C>T" "r.(?)" "p.(=)" "46" "" "0000673481" "00023950" "50" "12554" "0" "12554" "0" "c.12554C>G" "r.(?)" "p.(Ser4185Trp)" "46" "" "0000673482" "00023950" "90" "12564" "0" "12564" "0" "c.12564dup" "r.(?)" "p.(Thr4189Hisfs*21)" "46" "" "0000673483" "00023950" "90" "12568" "0" "12568" "0" "c.12568dup" "r.(?)" "p.(Ser4190Phefs*20)" "46" "" "0000673484" "00023950" "30" "12569" "0" "12569" "0" "c.12569C>T" "r.(?)" "p.(Ser4190Phe)" "46" "" "0000673485" "00023950" "30" "12570" "0" "12570" "0" "c.12570C>T" "r.(?)" "p.(=)" "46" "" "0000673486" "00023950" "90" "12577" "0" "12580" "0" "c.12577_12580dup" "r.(?)" "p.(Leu4194Profs*17)" "46" "" "0000673487" "00023950" "90" "12594" "0" "12621" "0" "c.12594_12621del" "r.(?)" "p.(Gly4202Serfs*147)" "46" "" "0000673488" "00023950" "90" "12604" "0" "12631" "0" "c.12604_12631del" "r.(?)" "p.(Gly4202Serfs*147)" "46" "" "0000673489" "00023950" "90" "12608" "0" "12635" "0" "c.12608_12635del" "r.(?)" "p.(Arg4203Profs*146)" "46" "" "0000673490" "00023950" "90" "12608" "0" "12635" "0" "c.12608_12635del" "r.(?)" "p.(Arg4203Profs*146)" "46" "" "0000673491" "00023950" "90" "12624" "0" "12625" "0" "c.12624_12625del" "r.(?)" "p.(Cys4208*)" "46" "" "0000673492" "00023950" "90" "12624" "0" "12624" "0" "c.12624T>A" "r.(?)" "p.(Cys4208*)" "46" "" "0000673493" "00023950" "30" "12630" "0" "12630" "0" "c.12630T>C" "r.(?)" "p.(=)" "46" "" "0000673494" "00023950" "90" "12635" "0" "12636" "0" "c.12635_12636ins28" "r.(?)" "p.(Pro4212fs154*)" "46" "" "0000673495" "00023950" "90" "12646" "0" "12646" "0" "c.12646C>T" "r.(?)" "p.(Gln4216*)" "46" "" "0000673496" "00023950" "30" "12648" "0" "12648" "0" "c.12648A>C" "r.(?)" "p.(Gln4216His)" "46" "" "0000673497" "00023950" "30" "12651" "0" "12651" "0" "c.12651C>T" "r.(?)" "p.(=)" "46" "" "0000673498" "00023950" "90" "12651" "0" "12651" "0" "c.12651del" "r.(?)" "p.(Val4218Cysfs*140)" "46" "" "0000673499" "00023950" "30" "12657" "0" "12657" "0" "c.12657C>T" "r.(?)" "p.(=)" "46" "" "0000673500" "00023950" "50" "12658" "0" "12658" "0" "c.12658G>C" "r.(?)" "p.(Glu4220Gln)" "46" "" "0000673501" "00023950" "90" "12658" "0" "12658" "0" "c.12658G>T" "r.(?)" "p.(Glu4220*)" "46" "" "0000673502" "00023950" "30" "12664" "0" "12664" "0" "c.12664C>T" "r.(?)" "p.(=)" "46" "" "0000673503" "00023950" "90" "12666" "0" "12666" "0" "c.12666dup" "r.(?)" "p.(Leu4223Alafs*5)" "46" "" "0000673504" "00023950" "70" "12674" "0" "12674" "0" "c.12674A>C" "r.(?)" "p.(Gln4225Pro)" "46" "" "0000673505" "00023950" "50" "12676" "0" "12676" "0" "c.12676T>G" "r.(?)" "p.(Phe4226Val)" "46" "" "0000673506" "00023950" "90" "12676" "0" "12693" "0" "c.12676_12693del" "r.(?)" "p.(Phe4226_Gln4231del)" "46" "" "0000673507" "00023950" "90" "12682" "0" "12682" "0" "c.12682C>T" "r.(?)" "p.(Arg4228*)" "46" "" "0000673508" "00023950" "70" "12683" "0" "12683" "0" "c.12683G>C" "r.(?)" "p.(Arg4228Pro)" "46" "" "0000673509" "00023950" "30" "12691" "0" "12691" "0" "c.12691C>A" "r.(?)" "p.(Gln4231Lys)" "46" "" "0000673510" "00023950" "90" "12691" "0" "12691" "0" "c.12691C>T" "r.(?)" "p.(Gln4231*)" "46" "" "0000673511" "00023950" "30" "12705" "0" "12705" "0" "c.12705C>T" "r.(?)" "p.(=)" "46" "" "0000673512" "00023950" "90" "12710" "0" "12710" "0" "c.12710dup" "r.(?)" "p.(Tyr4237*)" "46" "" "0000673513" "00023950" "90" "12711" "0" "12711" "0" "c.12711C>G" "r.(?)" "p.(Tyr4237*)" "46" "" "0000673514" "00023950" "90" "12712" "0" "12712" "0" "c.12712C>T" "r.(?)" "p.(Gln4238*)" "46" "" "0000673515" "00023950" "90" "12718" "0" "12718" "0" "c.12718G>T" "r.(?)" "p.(Glu4240*)" "46" "" "0000673516" "00023950" "90" "12721" "0" "12721" "0" "c.12721C>T" "r.(?)" "p.(Gln4241*)" "46" "" "0000673517" "00023950" "90" "12724" "0" "12724" "0" "c.12724C>T" "r.(?)" "p.(Gln4242*)" "46" "" "0000673518" "00023950" "90" "12745" "0" "12745" "0" "c.12745del" "r.(?)" "p.(Arg4249Alafs*109)" "46" "" "0000673519" "00023950" "50" "12757" "0" "12757" "0" "c.12757C>T" "r.(?)" "p.(Arg4253Trp)" "46" "" "0000673520" "00023950" "50" "12763" "0" "12763" "0" "c.12763C>T" "r.(?)" "p.(Pro4255Ser)" "46" "" "0000673521" "00023950" "30" "12765" "0" "12765" "0" "c.12765C>T" "r.(?)" "p.(=)" "46" "" "0000673522" "00023950" "30" "12768" "0" "12768" "0" "c.12768C>T" "r.(?)" "p.(=)" "46" "" "0000673523" "00023950" "30" "12769" "0" "12769" "0" "c.12769G>A" "r.(?)" "p.(Gly4257Arg)" "46" "" "0000673524" "00023950" "90" "12770" "0" "12770" "0" "c.12770del" "r.(?)" "p.(Gly4257Aspfs*101)" "46" "" "0000673525" "00023950" "50" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "" "0000673526" "00023950" "90" "12861" "0" "12862" "0" "c.12861_12862ins39" "r.(?)" "p.?" "46" "" "0000673527" "00023950" "30" "12862" "0" "12862" "0" "c.12862A>G" "r.(?)" "p.(Ser4288Gly)" "46" "" "0000673528" "00023950" "30" "12925" "0" "12925" "0" "c.*13G>A" "r.(?)" "p.(=)" "46" "" "0000673529" "00023950" "30" "12927" "0" "12927" "0" "c.*15G>A" "r.(?)" "p.(=)" "46" "" "0000673530" "00023950" "30" "13025" "0" "13025" "0" "c.*113A>G" "r.(?)" "p.(=)" "46" "" "0000673531" "00023950" "30" "13149" "0" "13149" "0" "c.*237T>C" "r.(?)" "p.(=)" "46" "" "0000673532" "00023950" "30" "13156" "0" "13156" "0" "c.*244C>T" "r.(?)" "p.(=)" "46" "" "0000673533" "00023950" "30" "13162" "0" "13162" "0" "c.*250G>A" "r.(?)" "p.(=)" "46" "" "0000673534" "00023950" "90" "8259" "0" "8259" "0" "c.8259C>G" "r.(?)" "p.(Tyr2753*)" "" "" "0000673535" "00023950" "50" "6763" "0" "6763" "0" "c.6763C>T" "r.(?)" "p.(Arg2255Cys)" "" "" "0000673536" "00023950" "90" "4051" "0" "4052" "0" "c.4051_4052del" "r.(?)" "p.(Arg1351Glufs*79)" "" "" "0000673537" "00023950" "90" "4199" "0" "4199" "0" "c.4199del" "r.(?)" "p.(Leu1400Argfs*32)" "" "" "0000673538" "00023950" "90" "12413" "0" "12413" "0" "c.12413G>A" "r.(?)" "p.(Arg4138His)" "" "" "0000673539" "00023950" "50" "3820" "0" "3820" "0" "c.3820G>A" "r.(?)" "p.(Val1274Met)" "" "" "0000673540" "00023950" "50" "8716" "0" "8716" "0" "c.8716G>A" "r.(?)" "p.(Gly2906Ser)" "" "" "0000673542" "00023950" "30" "8087" "0" "8087" "0" "c.8087T>G" "r.(?)" "p.(Leu2696Arg)" "" "" "0000673543" "00023950" "70" "9222" "0" "9222" "0" "c.9222C>G" "r.(?)" "p.(Asn3074Lys)" "" "" "0000674775" "00023950" "90" "0" "0" "0" "0" "c.3887_*1017{0}" "r.?" "p.?" "" "" "0000674788" "00023950" "90" "0" "0" "0" "0" "c.3887_*1017{0}" "r.?" "p.?" "" "" "0000680440" "00023950" "30" "56307" "0" "56307" "0" "c.*43395G>A" "r.(=)" "p.(=)" "" "" "0000680442" "00023950" "10" "49232" "0" "49232" "0" "c.*36320G>C" "r.(=)" "p.(=)" "" "" "0000680443" "00023950" "30" "47233" "0" "47233" "0" "c.*34321G>A" "r.(=)" "p.(=)" "" "" "0000680444" "00023950" "30" "45924" "0" "45924" "0" "c.*33012G>A" "r.(=)" "p.(=)" "" "" "0000680445" "00023950" "30" "28368" "0" "28368" "0" "c.*15456G>A" "r.(=)" "p.(=)" "" "" "0000680446" "00023950" "50" "23036" "0" "23036" "0" "c.*10124T>G" "r.(=)" "p.(=)" "" "" "0000680447" "00023950" "30" "18094" "0" "18094" "0" "c.*5182G>A" "r.(=)" "p.(=)" "" "" "0000680448" "00023950" "30" "17917" "0" "17917" "0" "c.*5005G>T" "r.(=)" "p.(=)" "" "" "0000680449" "00023950" "30" "17905" "0" "17905" "0" "c.*4993C>T" "r.(=)" "p.(=)" "" "" "0000680450" "00023950" "30" "16426" "0" "16426" "0" "c.*3514G>A" "r.(=)" "p.(=)" "" "" "0000680451" "00023950" "50" "14582" "0" "14582" "0" "c.*1670C>T" "r.(=)" "p.(=)" "" "" "0000680452" "00023950" "30" "14107" "0" "14107" "0" "c.*1195G>A" "r.(=)" "p.(=)" "" "" "0000680453" "00023950" "50" "14044" "0" "14044" "0" "c.*1132G>T" "r.(=)" "p.(=)" "" "" "0000680454" "00023950" "50" "12892" "0" "12892" "0" "c.12892G>T" "r.(?)" "p.(Val4298Phe)" "" "" "0000680455" "00023950" "30" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "" "" "0000680456" "00023950" "70" "12709" "0" "12709" "0" "c.12709T>G" "r.(?)" "p.(Tyr4237Asp)" "" "" "0000680457" "00023950" "90" "12056" "0" "12056" "0" "c.12056T>A" "r.(?)" "p.(Leu4019Ter)" "" "" "0000680458" "00023950" "90" "11884" "0" "11884" "0" "c.11884C>T" "r.(?)" "p.(Gln3962Ter)" "" "" "0000680459" "00023950" "30" "11412" "-6" "11412" "-6" "c.11412-6C>T" "r.(=)" "p.(=)" "" "" "0000680460" "00023950" "30" "11017" "-5" "11017" "-5" "c.11017-5A>G" "r.spl?" "p.?" "" "" "0000680461" "00023950" "30" "10531" "0" "10531" "0" "c.10531C>G" "r.(?)" "p.(Leu3511Val)" "" "" "0000680462" "00023950" "30" "10325" "0" "10325" "0" "c.10325C>T" "r.(?)" "p.(Ala3442Val)" "" "" "0000680463" "00023950" "30" "9957" "0" "9957" "0" "c.9957C>T" "r.(?)" "p.(Ser3319=)" "" "" "0000680464" "00023950" "50" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "" "" "0000680465" "00023950" "30" "8689" "0" "8689" "0" "c.8689G>A" "r.(?)" "p.(Val2897Ile)" "" "" "0000680466" "00023950" "30" "8575" "0" "8575" "0" "c.8575G>A" "r.(?)" "p.(Ala2859Thr)" "" "" "0000680467" "00023950" "30" "8247" "0" "8247" "0" "c.8247G>A" "r.(?)" "p.(Ala2749=)" "" "" "0000680468" "00023950" "30" "6573" "0" "6573" "0" "c.6573C>T" "r.(?)" "p.(Arg2191=)" "" "" "0000680469" "00023950" "50" "6434" "0" "6434" "0" "c.6434C>T" "r.(?)" "p.(Ala2145Val)" "" "" "0000680470" "00023950" "30" "4845" "0" "4845" "0" "c.4845C>T" "r.(?)" "p.(Asn1615=)" "" "" "0000680471" "00023950" "30" "4018" "0" "4018" "0" "c.4018C>T" "r.(?)" "p.(Arg1340Trp)" "" "" "0000680472" "00023950" "30" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Arg791Gln)" "" "" "0000680473" "00023950" "30" "2235" "0" "2235" "0" "c.2235C>G" "r.(?)" "p.(Ala745=)" "" "" "0000680474" "00023950" "30" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Pro731Leu)" "" "" "0000680475" "00023950" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "" "" "0000691969" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000691971" "00023950" "30" "45918" "0" "45918" "0" "c.*33006G>A" "r.(=)" "p.(=)" "" "" "0000691973" "00023950" "50" "26477" "0" "26477" "0" "c.*13565T>C" "r.(=)" "p.(=)" "" "" "0000691974" "00023950" "30" "26151" "0" "26151" "0" "c.*13239G>T" "r.(=)" "p.(=)" "" "" "0000691975" "00023950" "30" "23517" "0" "23517" "0" "c.*10605G>A" "r.(=)" "p.(=)" "" "" "0000691976" "00023950" "50" "17632" "0" "17632" "0" "c.*4720G>C" "r.(=)" "p.(=)" "" "" "0000691977" "00023950" "30" "14565" "0" "14565" "0" "c.*1653C>T" "r.(=)" "p.(=)" "" "" "0000691978" "00023950" "30" "11017" "-3" "11017" "-3" "c.11017-3C>T" "r.spl?" "p.?" "" "" "0000691979" "00023950" "30" "10389" "0" "10389" "0" "c.10389A>G" "r.(?)" "p.(Lys3463=)" "" "" "0000691980" "00023950" "30" "10173" "0" "10173" "0" "c.10173C>G" "r.(?)" "p.(Ala3391=)" "" "" "0000691981" "00023950" "30" "9708" "0" "9708" "0" "c.9708C>T" "r.(?)" "p.(Ala3236=)" "" "" "0000691982" "00023950" "30" "9668" "0" "9668" "0" "c.9668C>T" "r.(?)" "p.(Thr3223Met)" "" "" "0000691983" "00023950" "50" "9115" "0" "9115" "0" "c.9115C>T" "r.(?)" "p.(Arg3039Cys)" "" "" "0000691984" "00023950" "30" "8994" "0" "8994" "0" "c.8994C>T" "r.(?)" "p.(His2998=)" "" "" "0000691985" "00023950" "30" "7605" "0" "7605" "0" "c.7605C>T" "r.(?)" "p.(Tyr2535=)" "" "" "0000691986" "00023950" "50" "6985" "0" "6985" "0" "c.6985C>T" "r.(?)" "p.(Arg2329Trp)" "" "" "0000691987" "00023950" "30" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "" "" "0000691988" "00023950" "30" "6484" "0" "6484" "0" "c.6484C>T" "r.(?)" "p.(Arg2162Trp)" "" "" "0000691989" "00023950" "30" "6007" "0" "6007" "0" "c.6007G>A" "r.(?)" "p.(Ala2003Thr)" "" "" "0000691990" "00023950" "30" "5892" "0" "5892" "0" "c.5892C>T" "r.(?)" "p.(Arg1964=)" "" "" "0000691991" "00023950" "70" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Gly1944Arg)" "" "" "0000691992" "00023950" "30" "5704" "0" "5704" "0" "c.5704G>A" "r.(?)" "p.(Gly1902Arg)" "" "" "0000691993" "00023950" "50" "5180" "0" "5180" "0" "c.5180C>T" "r.(?)" "p.(Pro1727Leu)" "" "" "0000691994" "00023950" "50" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Ser1352Asn)" "" "" "0000691995" "00023950" "30" "3525" "0" "3525" "0" "c.3525G>A" "r.(?)" "p.(Pro1175=)" "" "" "0000691996" "00023950" "50" "529" "10" "529" "10" "c.529+10G>A" "r.(=)" "p.(=)" "" "" "0000704155" "00023950" "90" "5572" "0" "5572" "0" "c.5572del" "r.(?)" "p.(Asp1858Metfs*91)" "" "" "0000725516" "00023950" "30" "58902" "0" "58903" "0" "c.*45990_*45991del" "r.(=)" "p.(=)" "" "" "0000725518" "00023950" "50" "49248" "0" "49248" "0" "c.*36336T>A" "r.(=)" "p.(=)" "" "" "0000725520" "00023950" "10" "14783" "0" "14783" "0" "c.*1871G>A" "r.(=)" "p.(=)" "" "" "0000725521" "00023950" "10" "14741" "0" "14741" "0" "c.*1829C>T" "r.(=)" "p.(=)" "" "" "0000725522" "00023950" "30" "14599" "0" "14599" "0" "c.*1687G>A" "r.(=)" "p.(=)" "" "" "0000725523" "00023950" "30" "14416" "0" "14416" "0" "c.*1504G>C" "r.(=)" "p.(=)" "" "" "0000725524" "00023950" "50" "14075" "0" "14075" "0" "c.*1163C>T" "r.(=)" "p.(=)" "" "" "0000725525" "00023950" "30" "12946" "0" "12946" "0" "c.*34G>A" "r.(=)" "p.(=)" "" "" "0000725526" "00023950" "10" "12927" "0" "12927" "0" "c.*15G>A" "r.(=)" "p.(=)" "" "" "0000725527" "00023950" "10" "12769" "0" "12769" "0" "c.12769G>A" "r.(?)" "p.(Gly4257Arg)" "" "" "0000725528" "00023950" "10" "12630" "0" "12630" "0" "c.12630T>C" "r.(?)" "p.(Pro4210=)" "" "" "0000725529" "00023950" "10" "12409" "0" "12409" "0" "c.12409C>T" "r.(?)" "p.(Leu4137=)" "" "" "0000725530" "00023950" "10" "12276" "0" "12276" "0" "c.12276A>G" "r.(?)" "p.(Ala4092=)" "" "" "0000725531" "00023950" "30" "12270" "0" "12270" "0" "c.12270C>G" "r.(?)" "p.(Leu4090=)" "" "" "0000725532" "00023950" "30" "12195" "0" "12195" "0" "c.12195G>A" "r.(?)" "p.(Leu4065=)" "" "" "0000725533" "00023950" "10" "12176" "0" "12176" "0" "c.12176C>T" "r.(?)" "p.(Ala4059Val)" "" "" "0000725534" "00023950" "10" "12133" "0" "12133" "0" "c.12133A>G" "r.(?)" "p.(Ile4045Val)" "" "" "0000725535" "00023950" "50" "12033" "0" "12033" "0" "c.12033G>C" "r.(?)" "p.(Gln4011His)" "" "" "0000725536" "00023950" "50" "12019" "0" "12019" "0" "c.12019C>T" "r.(?)" "p.(Arg4007Cys)" "" "" "0000725537" "00023950" "90" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004*)" "" "" "0000725538" "00023950" "90" "11978" "0" "11978" "0" "c.11978C>A" "r.(?)" "p.(Ser3993*)" "" "" "0000725539" "00023950" "30" "11717" "0" "11717" "0" "c.11717G>T" "r.(?)" "p.(Cys3906Phe)" "" "" "0000725540" "00023950" "30" "11412" "-20" "11412" "-20" "c.11412-20A>T" "r.(=)" "p.(=)" "" "" "0000725541" "00023950" "10" "11262" "0" "11262" "0" "c.11262G>C" "r.(?)" "p.(Leu3754=)" "" "" "0000725542" "00023950" "10" "11156" "13" "11156" "13" "c.11156+13G>A" "r.(=)" "p.(=)" "" "" "0000725543" "00023950" "90" "11156" "0" "11156" "0" "c.11156G>A" "r.(?)" "p.(Arg3719Gln)" "" "" "0000725544" "00023950" "50" "11017" "-3" "11017" "-3" "c.11017-3C>T" "r.spl?" "p.?" "" "" "0000725545" "00023950" "50" "11015" "0" "11015" "0" "c.11015G>A" "r.(?)" "p.(Arg3672Gln)" "" "" "0000725546" "00023950" "10" "10822" "-14" "10822" "-14" "c.10822-14C>T" "r.(=)" "p.(=)" "" "" "0000725547" "00023950" "30" "10545" "0" "10545" "0" "c.10545G>A" "r.(?)" "p.(Arg3515=)" "" "" "0000725548" "00023950" "10" "10535" "0" "10535" "0" "c.10535C>T" "r.(?)" "p.(Ala3512Val)" "" "" "0000725549" "00023950" "10" "10368" "0" "10368" "0" "c.10368C>T" "r.(?)" "p.(Ala3456=)" "" "" "0000725550" "00023950" "30" "10325" "0" "10325" "0" "c.10325C>T" "r.(?)" "p.(Ala3442Val)" "" "" "0000725551" "00023950" "10" "10225" "0" "10225" "0" "c.10225G>C" "r.(?)" "p.(Val3409Leu)" "" "" "0000725552" "00023950" "10" "9924" "-11" "9924" "-11" "c.9924-11C>T" "r.(=)" "p.(=)" "" "" "0000725553" "00023950" "10" "9795" "0" "9795" "0" "c.9795C>T" "r.(?)" "p.(Ser3265=)" "" "" "0000725554" "00023950" "30" "9718" "0" "9718" "0" "c.9718G>A" "r.(?)" "p.(Ala3240Thr)" "" "" "0000725555" "00023950" "30" "9713" "-17" "9713" "-17" "c.9713-17C>G" "r.(=)" "p.(=)" "" "" "0000725556" "00023950" "30" "9708" "0" "9708" "0" "c.9708C>T" "r.(?)" "p.(Ala3236=)" "" "" "0000725557" "00023950" "10" "9569" "-13" "9569" "-13" "c.9569-13T>C" "r.(=)" "p.(=)" "" "" "0000725558" "00023950" "10" "9330" "0" "9330" "0" "c.9330T>C" "r.(?)" "p.(Pro3110=)" "" "" "0000725559" "00023950" "10" "9270" "0" "9270" "0" "c.9270C>T" "r.(?)" "p.(Val3090=)" "" "" "0000725560" "00023950" "10" "9196" "0" "9196" "0" "c.9196T>C" "r.(?)" "p.(Phe3066Leu)" "" "" "0000725561" "00023950" "50" "9035" "0" "9035" "0" "c.9035C>T" "r.(?)" "p.(Thr3012Met)" "" "" "0000725562" "00023950" "30" "9022" "0" "9022" "0" "c.9022G>A" "r.(?)" "p.(Val3008Met)" "" "" "0000725563" "00023950" "10" "8949" "-17" "8949" "-17" "c.8949-17A>G" "r.(=)" "p.(=)" "" "" "0000725564" "00023950" "10" "8949" "-20" "8949" "-20" "c.8949-20G>A" "r.(=)" "p.(=)" "" "" "0000725565" "00023950" "10" "8948" "17" "8948" "17" "c.8948+17A>G" "r.(=)" "p.(=)" "" "" "0000725566" "00023950" "10" "8913" "0" "8913" "0" "c.8913T>C" "r.(?)" "p.(Ala2971=)" "" "" "0000725567" "00023950" "50" "8572" "0" "8572" "0" "c.8572G>A" "r.(?)" "p.(Gly2858Ser)" "" "" "0000725568" "00023950" "30" "8572" "0" "8572" "0" "c.8572G>A" "r.(?)" "p.(Gly2858Ser)" "" "" "0000725569" "00023950" "30" "8550" "0" "8550" "0" "c.8550G>A" "r.(?)" "p.(Ser2850=)" "" "" "0000725570" "00023950" "50" "8464" "0" "8464" "0" "c.8464G>A" "r.(?)" "p.(Val2822Met)" "" "" "0000725571" "00023950" "30" "8364" "0" "8364" "0" "c.8364G>A" "r.(?)" "p.(Ser2788=)" "" "" "0000725572" "00023950" "30" "8129" "0" "8129" "0" "c.8129C>A" "r.(?)" "p.(Thr2710Asn)" "" "" "0000725573" "00023950" "30" "8119" "0" "8119" "0" "c.8119G>A" "r.(?)" "p.(Val2707Met)" "" "" "0000725574" "00023950" "30" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "" "" "0000725575" "00023950" "30" "8109" "0" "8109" "0" "c.8109C>T" "r.(?)" "p.(Thr2703=)" "" "" "0000725576" "00023950" "30" "8087" "0" "8087" "0" "c.8087T>C" "r.(?)" "p.(Leu2696Pro)" "" "" "0000725577" "00023950" "10" "8037" "0" "8037" "0" "c.8037A>G" "r.(?)" "p.(Val2679=)" "" "" "0000725578" "00023950" "10" "8020" "0" "8020" "0" "c.8020C>T" "r.(?)" "p.(Pro2674Ser)" "" "" "0000725579" "00023950" "50" "8009" "0" "8009" "0" "c.8009A>G" "r.(?)" "p.(Gln2670Arg)" "" "" "0000725580" "00023950" "10" "7913" "0" "7913" "0" "c.7913A>G" "r.(?)" "p.(His2638Arg)" "" "" "0000725581" "00023950" "50" "7835" "0" "7835" "0" "c.7835C>T" "r.(?)" "p.(Ser2612Leu)" "" "" "0000725582" "00023950" "10" "7708" "0" "7708" "0" "c.7708T>C" "r.(?)" "p.(Leu2570=)" "" "" "0000725583" "00023950" "10" "7642" "0" "7642" "0" "c.7642G>C" "r.(?)" "p.(Glu2548Gln)" "" "" "0000725584" "00023950" "30" "7636" "0" "7636" "0" "c.7636C>T" "r.(?)" "p.(His2546Tyr)" "" "" "0000725585" "00023950" "90" "7555" "0" "7555" "0" "c.7555C>T" "r.(?)" "p.(Gln2519*)" "" "" "0000725586" "00023950" "70" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "" "" "0000725587" "00023950" "10" "7441" "0" "7441" "0" "c.7441C>T" "r.(?)" "p.(Leu2481=)" "" "" "0000725588" "00023950" "90" "7409" "0" "7409" "0" "c.7409del" "r.(?)" "p.(Pro2470Argfs*150)" "" "" "0000725589" "00023950" "70" "7343" "0" "7343" "0" "c.7343T>G" "r.(?)" "p.(Leu2448Arg)" "" "" "0000725590" "00023950" "10" "7165" "0" "7165" "0" "c.7165T>C" "r.(?)" "p.(Leu2389=)" "" "" "0000725591" "00023950" "70" "7115" "0" "7115" "0" "c.7115C>T" "r.(?)" "p.(Ser2372Phe)" "" "" "0000725592" "00023950" "90" "6583" "0" "6589" "0" "c.6583_6589dup" "r.(?)" "p.(Arg2197Leufs*67)" "" "" "0000725593" "00023950" "10" "6331" "0" "6331" "0" "c.6331G>A" "r.(?)" "p.(Glu2111Lys)" "" "" "0000725594" "00023950" "10" "5852" "0" "5852" "0" "c.5852G>A" "r.(?)" "p.(Arg1951Gln)" "" "" "0000725595" "00023950" "10" "5827" "0" "5827" "0" "c.5827G>A" "r.(?)" "p.(Val1943Ile)" "" "" "0000725596" "00023950" "10" "5763" "0" "5763" "0" "c.5763G>A" "r.(?)" "p.(Leu1921=)" "" "" "0000725597" "00023950" "30" "5688" "0" "5688" "0" "c.5688C>G" "r.(?)" "p.(Ser1896Arg)" "" "" "0000725598" "00023950" "90" "5622" "0" "5622" "0" "c.5622G>A" "r.(?)" "p.(Trp1874*)" "" "" "0000725599" "00023950" "30" "5577" "0" "5577" "0" "c.5577T>C" "r.(?)" "p.(Ala1859=)" "" "" "0000725600" "00023950" "10" "5454" "0" "5454" "0" "c.5454G>A" "r.(?)" "p.(Ala1818=)" "" "" "0000725601" "00023950" "30" "5373" "0" "5373" "0" "c.5373C>T" "r.(?)" "p.(Asn1791=)" "" "" "0000725602" "00023950" "30" "5307" "0" "5307" "0" "c.5307T>C" "r.(?)" "p.(His1769=)" "" "" "0000725603" "00023950" "30" "5259" "0" "5259" "0" "c.5259C>G" "r.(?)" "p.(Ser1753=)" "" "" "0000725604" "00023950" "10" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(Ala1724=)" "" "" "0000725605" "00023950" "30" "4963" "0" "4963" "0" "c.4963G>T" "r.(?)" "p.(Val1655Leu)" "" "" "0000725606" "00023950" "10" "4665" "0" "4665" "0" "c.4665A>C" "r.(?)" "p.(Ala1555=)" "" "" "0000725607" "00023950" "30" "4475" "0" "4475" "0" "c.4475G>C" "r.(?)" "p.(Arg1492Pro)" "" "" "0000725608" "00023950" "10" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Ala1422Thr)" "" "" "0000725609" "00023950" "30" "4263" "0" "4263" "0" "c.4263C>T" "r.(?)" "p.(Ala1421=)" "" "" "0000725610" "00023950" "10" "4195" "0" "4195" "0" "c.4195T>C" "r.(?)" "p.(Trp1399Arg)" "" "" "0000725611" "00023950" "30" "4151" "0" "4151" "0" "c.4151C>T" "r.(?)" "p.(Thr1384Ile)" "" "" "0000725612" "00023950" "90" "4070" "0" "4070" "0" "c.4070del" "r.(?)" "p.(Leu1357Argfs*9)" "" "" "0000725613" "00023950" "30" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Ala1302Thr)" "" "" "0000725614" "00023950" "30" "3701" "0" "3701" "0" "c.3701C>T" "r.(?)" "p.(Ala1234Val)" "" "" "0000725616" "00023950" "30" "3615" "0" "3615" "0" "c.3615T>C" "r.(?)" "p.(Asp1205=)" "" "" "0000725617" "00023950" "30" "3600" "0" "3600" "0" "c.3600G>A" "r.(?)" "p.(Ala1200=)" "" "" "0000725618" "00023950" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Asp1165=)" "" "" "0000725619" "00023950" "30" "3444" "0" "3444" "0" "c.3444G>A" "r.(?)" "p.(Pro1148=)" "" "" "0000725620" "00023950" "30" "3429" "0" "3429" "0" "c.3429C>T" "r.(?)" "p.(Pro1143=)" "" "" "0000725621" "00023950" "10" "3375" "0" "3375" "0" "c.3375C>T" "r.(?)" "p.(Ser1125=)" "" "" "0000725622" "00023950" "10" "3372" "0" "3372" "0" "c.3372C>T" "r.(?)" "p.(Ala1124=)" "" "" "0000725623" "00023950" "30" "3316" "0" "3316" "0" "c.3316C>G" "r.(?)" "p.(Leu1106Val)" "" "" "0000725624" "00023950" "30" "3316" "0" "3316" "0" "c.3316C>G" "r.(?)" "p.(Leu1106Val)" "" "" "0000725625" "00023950" "10" "3296" "-15" "3296" "-15" "c.3296-15G>A" "r.(=)" "p.(=)" "" "" "0000725626" "00023950" "10" "3275" "0" "3275" "0" "c.3275T>C" "r.(?)" "p.(Met1092Thr)" "" "" "0000725627" "00023950" "10" "3111" "0" "3111" "0" "c.3111A>G" "r.(?)" "p.(Leu1037=)" "" "" "0000725628" "00023950" "10" "3063" "0" "3063" "0" "c.3063T>C" "r.(?)" "p.(Gly1021=)" "" "" "0000725629" "00023950" "10" "2986" "-15" "2986" "-15" "c.2986-15C>T" "r.(=)" "p.(=)" "" "" "0000725630" "00023950" "10" "2854" "-5" "2854" "-5" "c.2854-5C>T" "r.spl?" "p.?" "" "" "0000725631" "00023950" "10" "2730" "0" "2730" "0" "c.2730C>T" "r.(?)" "p.(Asp910=)" "" "" "0000725632" "00023950" "10" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(Pro900=)" "" "" "0000725633" "00023950" "50" "2647" "0" "2647" "0" "c.2647C>G" "r.(?)" "p.(Pro883Ala)" "" "" "0000725634" "00023950" "90" "2398" "0" "2398" "0" "c.2398dup" "r.(?)" "p.(Ala800Glyfs*17)" "" "" "0000725635" "00023950" "10" "2214" "0" "2214" "0" "c.2214C>G" "r.(?)" "p.(Pro738=)" "" "" "0000725636" "00023950" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(His703=)" "" "" "0000725637" "00023950" "10" "1850" "-4" "1850" "-4" "c.1850-4A>G" "r.spl?" "p.?" "" "" "0000725638" "00023950" "90" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Trp)" "" "" "0000725639" "00023950" "30" "1723" "-8" "1723" "-8" "c.1723-8C>T" "r.(=)" "p.(=)" "" "" "0000725640" "00023950" "30" "1723" "-9" "1723" "-9" "c.1723-9G>T" "r.(=)" "p.(=)" "" "" "0000725641" "00023950" "10" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Pro572Ser)" "" "" "0000725642" "00023950" "30" "1692" "0" "1692" "0" "c.1692C>T" "r.(?)" "p.(Asp564=)" "" "" "0000725643" "00023950" "30" "1606" "18" "1606" "18" "c.1606+18C>T" "r.(=)" "p.(=)" "" "" "0000725644" "00023950" "30" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Ala427=)" "" "" "0000725646" "00023950" "30" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Ile391=)" "" "" "0000725647" "00023950" "10" "1119" "0" "1119" "0" "c.1119=" "r.(=)" "p.(Leu373=)" "" "" "0000725648" "00023950" "30" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(Ser366=)" "" "" "0000725649" "00023950" "10" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ala341=)" "" "" "0000725650" "00023950" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Pro170=)" "" "" "0000730505" "00023950" "90" "6243" "0" "6243" "0" "c.6243del" "r.(?)" "p.(Ala2082ProfsTer34)" "" "" "0000791686" "00023950" "50" "6638" "0" "6638" "0" "c.6638G>C" "r.?" "p.(Arg2213Pro)" "15" "PolyPhen: probably damaging; SIFT: Tolerated; MutationTaster: disease causing; Grantham: 103; AGVGD: C0" "0000807133" "00023950" "90" "58912" "0" "58912" "0" "c.*46000G>A" "r.(=)" "p.(=)" "" "" "0000807137" "00023950" "50" "54056" "0" "54056" "0" "c.*41144T>G" "r.(=)" "p.(=)" "" "" "0000807139" "00023950" "50" "52218" "0" "52218" "0" "c.*39306G>A" "r.(=)" "p.(=)" "" "" "0000807140" "00023950" "50" "41910" "0" "41910" "0" "c.*28998G>T" "r.(=)" "p.(=)" "" "" "0000807141" "00023950" "10" "39699" "0" "39699" "0" "c.*26787G>C" "r.(=)" "p.(=)" "" "" "0000807142" "00023950" "50" "39627" "0" "39627" "0" "c.*26715C>T" "r.(=)" "p.(=)" "" "" "0000807144" "00023950" "50" "31030" "0" "31030" "0" "c.*18118C>T" "r.(=)" "p.(=)" "" "" "0000807145" "00023950" "30" "30269" "0" "30269" "0" "c.*17357A>C" "r.(=)" "p.(=)" "" "" "0000807146" "00023950" "50" "26816" "0" "26816" "0" "c.*13904T>C" "r.(=)" "p.(=)" "" "" "0000807147" "00023950" "50" "22988" "0" "22988" "0" "c.*10076G>A" "r.(=)" "p.(=)" "" "" "0000807148" "00023950" "30" "22451" "0" "22451" "0" "c.*9539C>T" "r.(=)" "p.(=)" "" "" "0000807149" "00023950" "50" "17921" "0" "17921" "0" "c.*5009C>T" "r.(=)" "p.(=)" "" "" "0000807150" "00023950" "30" "17595" "0" "17595" "0" "c.*4683G>A" "r.(=)" "p.(=)" "" "" "0000807151" "00023950" "50" "14715" "0" "14715" "0" "c.*1803G>A" "r.(=)" "p.(=)" "" "" "0000807152" "00023950" "30" "14267" "0" "14267" "0" "c.*1355dup" "r.(?)" "p.(=)" "" "" "0000807153" "00023950" "30" "14179" "0" "14179" "0" "c.*1267G>A" "r.(=)" "p.(=)" "" "" "0000807154" "00023950" "30" "14094" "0" "14094" "0" "c.*1182C>T" "r.(=)" "p.(=)" "" "" "0000807155" "00023950" "30" "12765" "0" "12765" "0" "c.12765C>T" "r.(?)" "p.(Pro4255=)" "" "" "0000807156" "00023950" "30" "12492" "0" "12492" "0" "c.12492C>T" "r.(?)" "p.(Arg4164=)" "" "" "0000807157" "00023950" "30" "11976" "0" "11976" "0" "c.11976C>T" "r.(?)" "p.(Ala3992=)" "" "" "0000807158" "00023950" "30" "11976" "0" "11976" "0" "c.11976C>G" "r.(?)" "p.(Ala3992=)" "" "" "0000807159" "00023950" "30" "11874" "0" "11874" "0" "c.11874C>T" "r.(?)" "p.(Ala3958=)" "" "" "0000807160" "00023950" "10" "11682" "0" "11682" "0" "c.11682C>T" "r.(?)" "p.(Ser3894=)" "" "" "0000807161" "00023950" "30" "11589" "0" "11589" "0" "c.11589G>A" "r.(?)" "p.(Leu3863=)" "" "" "0000807162" "00023950" "10" "11376" "0" "11376" "0" "c.11376G>C" "r.(?)" "p.(Ser3792=)" "" "" "0000807163" "00023950" "90" "11156" "1" "11156" "1" "c.11156+1G>T" "r.spl?" "p.?" "" "" "0000807164" "00023950" "30" "10654" "0" "10654" "0" "c.10654G>T" "r.(?)" "p.(Ala3552Ser)" "" "" "0000807165" "00023950" "30" "10602" "0" "10602" "0" "c.10602G>A" "r.(?)" "p.(Ala3534=)" "" "" "0000807166" "00023950" "50" "10601" "0" "10601" "0" "c.10601C>T" "r.(?)" "p.(Ala3534Val)" "" "" "0000807167" "00023950" "30" "10221" "-14" "10221" "-14" "c.10221-14C>T" "r.(=)" "p.(=)" "" "" "0000807168" "00023950" "30" "10168" "-8" "10168" "-8" "c.10168-8C>T" "r.(=)" "p.(=)" "" "" "0000807169" "00023950" "30" "9795" "0" "9795" "0" "c.9795C>T" "r.(?)" "p.(Ser3265=)" "" "" "0000807170" "00023950" "50" "9709" "0" "9709" "0" "c.9709G>A" "r.(?)" "p.(Ala3237Thr)" "" "" "0000807171" "00023950" "30" "9690" "0" "9690" "0" "c.9690G>A" "r.(?)" "p.(Val3230=)" "" "" "0000807172" "00023950" "30" "9660" "0" "9660" "0" "c.9660G>A" "r.(?)" "p.(Ser3220=)" "" "" "0000807174" "00023950" "90" "9547" "0" "9547" "0" "c.9547C>T" "r.(?)" "p.(Arg3183*)" "" "" "0000807175" "00023950" "50" "9536" "0" "9536" "0" "c.9536T>C" "r.(?)" "p.(Val3179Ala)" "" "" "0000807176" "00023950" "70" "9430" "0" "9430" "0" "c.9430G>A" "r.(?)" "p.(Gly3144Arg)" "" "" "0000807177" "00023950" "70" "9157" "0" "9157" "0" "c.9157G>C" "r.(?)" "p.(Ala3053Pro)" "" "" "0000807178" "00023950" "30" "9111" "0" "9111" "0" "c.9111G>A" "r.(?)" "p.(Ser3037=)" "" "" "0000807179" "00023950" "10" "9022" "0" "9022" "0" "c.9022G>A" "r.(?)" "p.(Val3008Met)" "" "" "0000807180" "00023950" "30" "9009" "0" "9009" "0" "c.9009G>A" "r.(?)" "p.(Ala3003=)" "" "" "0000807181" "00023950" "50" "9006" "0" "9006" "0" "c.9006G>A" "r.(?)" "p.(Ser3002=)" "" "" "0000807182" "00023950" "30" "8843" "0" "8843" "0" "c.8843C>T" "r.(?)" "p.(Ser2948Leu)" "" "" "0000807183" "00023950" "30" "8713" "0" "8713" "0" "c.8713G>A" "r.(?)" "p.(Val2905Ile)" "" "" "0000807184" "00023950" "30" "8666" "0" "8674" "0" "c.8666_8674del" "r.(?)" "p.(Ser2889_Ala2891del)" "" "" "0000807185" "00023950" "30" "8344" "0" "8344" "0" "c.8344G>A" "r.(?)" "p.(Val2782Met)" "" "" "0000807186" "00023950" "30" "8161" "7" "8161" "7" "c.8161+7C>T" "r.(=)" "p.(=)" "" "" "0000807187" "00023950" "30" "8118" "0" "8118" "0" "c.8118C>T" "r.(?)" "p.(Thr2706=)" "" "" "0000807188" "00023950" "90" "7984" "0" "7984" "0" "c.7984C>T" "r.(?)" "p.(Gln2662*)" "" "" "0000807189" "00023950" "50" "7859" "0" "7859" "0" "c.7859A>G" "r.(?)" "p.(Asn2620Ser)" "" "" "0000807190" "00023950" "30" "7810" "0" "7810" "0" "c.7810G>A" "r.(?)" "p.(Asp2604Asn)" "" "" "0000807191" "00023950" "30" "7631" "0" "7631" "0" "c.7631G>A" "r.(?)" "p.(Arg2544Lys)" "" "" "0000807192" "00023950" "30" "7606" "0" "7606" "0" "c.7606G>A" "r.(?)" "p.(Gly2536Arg)" "" "" "0000807193" "00023950" "30" "7605" "0" "7605" "0" "c.7605C>T" "r.(?)" "p.(Tyr2535=)" "" "" "0000807194" "00023950" "50" "7567" "0" "7567" "0" "c.7567G>A" "r.(?)" "p.(Glu2523Lys)" "" "" "0000807195" "00023950" "90" "7555" "0" "7555" "0" "c.7555C>T" "r.(?)" "p.(Gln2519*)" "" "" "0000807196" "00023950" "30" "7490" "-7" "7490" "-7" "c.7490-7C>T" "r.(=)" "p.(=)" "" "" "0000807197" "00023950" "30" "7357" "0" "7357" "0" "c.7357C>T" "r.(?)" "p.(Arg2453Cys)" "" "" "0000807198" "00023950" "90" "7120" "0" "7120" "0" "c.7120A>T" "r.(?)" "p.(Lys2374*)" "" "" "0000807199" "00023950" "30" "6965" "0" "6965" "0" "c.6965C>T" "r.(?)" "p.(Thr2322Met)" "" "" "0000807200" "00023950" "30" "6792" "0" "6792" "0" "c.6792A>C" "r.(?)" "p.(Ser2264=)" "" "" "0000807201" "00023950" "30" "6597" "0" "6597" "0" "c.6597G>A" "r.(?)" "p.(Gly2199=)" "" "" "0000807202" "00023950" "90" "6223" "0" "6224" "0" "c.6223_6224insTT" "r.(?)" "p.(Arg2075Leufs*42)" "" "" "0000807203" "00023950" "30" "6213" "0" "6213" "0" "c.6213C>T" "r.(?)" "p.(Cys2071=)" "" "" "0000807204" "00023950" "30" "5568" "0" "5568" "0" "c.5568C>G" "r.(?)" "p.(Phe1856Leu)" "" "" "0000807205" "00023950" "50" "4984" "0" "4984" "0" "c.4984G>A" "r.(?)" "p.(Val1662Ile)" "" "" "0000807206" "00023950" "10" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Gly1639=)" "" "" "0000807207" "00023950" "30" "4876" "0" "4876" "0" "c.4876G>A" "r.(?)" "p.(Val1626Ile)" "" "" "0000807208" "00023950" "30" "4836" "0" "4836" "0" "c.4836G>A" "r.(?)" "p.(Thr1612=)" "" "" "0000807209" "00023950" "50" "4657" "0" "4659" "0" "c.4657_4659del" "r.(?)" "p.(Val1553del)" "" "" "0000807210" "00023950" "50" "4657" "0" "4659" "0" "c.4657_4659del" "r.(?)" "p.(Val1553del)" "" "" "0000807211" "00023950" "30" "4531" "0" "4531" "0" "c.4531C>T" "r.(?)" "p.(Pro1511Ser)" "" "" "0000807213" "00023950" "30" "4051" "0" "4051" "0" "c.4051C>T" "r.(?)" "p.(Arg1351Trp)" "" "" "0000807214" "00023950" "30" "3906" "0" "3906" "0" "c.3906C>T" "r.(?)" "p.(Ala1302=)" "" "" "0000807215" "00023950" "30" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(Leu1265=)" "" "" "0000807216" "00023950" "30" "3525" "0" "3525" "0" "c.3525G>A" "r.(?)" "p.(Pro1175=)" "" "" "0000807217" "00023950" "30" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Pro1127Leu)" "" "" "0000807218" "00023950" "30" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Pro1127Leu)" "" "" "0000807219" "00023950" "50" "3015" "0" "3032" "0" "c.3015_3032del" "r.(?)" "p.(Asn1008_Val1013del)" "" "" "0000807220" "00023950" "10" "2694" "0" "2694" "0" "c.2694A>C" "r.(?)" "p.(Ala898=)" "" "" "0000807221" "00023950" "30" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Ala696Val)" "" "" "0000807222" "00023950" "10" "2039" "0" "2039" "0" "c.2039A>T" "r.(?)" "p.(Tyr680Phe)" "" "" "0000807223" "00023950" "50" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "" "0000807224" "00023950" "30" "1707" "0" "1707" "0" "c.1707G>T" "r.(?)" "p.(Pro569=)" "" "" "0000807225" "00023950" "90" "1640" "0" "1640" "0" "c.1640dup" "r.(?)" "p.(Ala548Serfs*39)" "" "" "0000807226" "00023950" "30" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Gly218Ser)" "" "" "0000807227" "00023950" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "" "" "0000807230" "00023950" "50" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ser91Leu)" "" "" "0000811026" "00023950" "70" "9484" "0" "9484" "0" "c.9484del" "r.(?)" "p.(Arg3162Alafs*154)" "" "" "0000827811" "00023950" "90" "6282" "0" "6282" "0" "c.6282G>A" "r.(?)" "p.(Trp2094Ter)" "15" "" "0000827812" "00023950" "90" "10723" "0" "10724" "0" "c.10723_10724insAGGG" "r.(?)" "p.(Trp3575Ter)" "36" "" "0000827813" "00023950" "90" "12310" "0" "12311" "0" "c.12310_12311del" "r.(?)" "p.(Val4104TyrfsTer52)" "45" "" "0000827816" "00023950" "90" "12310" "0" "12311" "0" "c.12310_12311del" "r.(?)" "p.(Val4104TyrfsTer52)" "45" "" "0000827817" "00023950" "70" "5090" "0" "5090" "0" "c.5090T>G" "r.(?)" "p.(Leu1697Arg)" "15" "" "0000827818" "00023950" "70" "11524" "0" "11524" "0" "c.11524T>C" "r.(?)" "p.(Trp3842Arg)" "41" "" "0000827819" "00023950" "90" "4935" "0" "4935" "0" "c.4935del" "r.(?)" "p.(Thr1646ProfsTer76)" "15" "" "0000827820" "00023950" "10" "10406" "-4" "10406" "-4" "c.10406-4C>T" "r.spl?" "p.(?)" "33i" "" "0000827821" "00023950" "90" "4177" "0" "4177" "0" "c.4177C>T" "r.(?)" "p.(Gln1393Ter)" "15" "" "0000827822" "00023950" "30" "11856" "0" "11856" "0" "c.11856C>G" "r.(?)" "p.(Arg3952=)" "43" "" "0000827823" "00023950" "50" "6299" "0" "6299" "0" "c.6299C>T" "r.(?)" "p.(Ser2100Leu)" "15" "" "0000827824" "00023950" "50" "8302" "0" "8302" "0" "c.8302G>A" "r.(?)" "p.(Val2768Met)" "23" "" "0000827825" "00023950" "10" "4546" "0" "4546" "0" "c.4546G>A" "r.(?)" "p.(Ala1516Thr)" "15" "" "0000827826" "00023950" "90" "9149" "0" "9150" "0" "c.9149_9150insG" "r.(?)" "p.(Phe3051LeufsTer18)" "25" "" "0000827827" "00023950" "50" "8123" "0" "8123" "0" "c.8123C>T" "r.(?)" "p.(Thr2708Met)" "22" "" "0000827828" "00023950" "50" "9746" "0" "9746" "0" "c.9746T>C" "r.(?)" "p.(Leu3249Pro)" "29" "" "0000827829" "00023950" "50" "5909" "0" "5909" "0" "c.5909C>G" "r.(?)" "p.(Ala1970Gly)" "15" "" "0000827830" "00023950" "70" "5515" "0" "5515" "0" "c.5515T>A" "r.(?)" "p.(Trp1839Arg)" "15" "" "0000827831" "00023950" "90" "11097" "0" "11097" "0" "c.11097C>G" "r.(?)" "p.(Tyr3699Ter)" "38" "" "0000827833" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000827834" "00023950" "10" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "22" "" "0000827835" "00023950" "30" "12139" "-5" "12139" "-5" "c.12139-5C>T" "r.spl" "p.(?)" "44i" "" "0000827882" "00023950" "70" "6992" "0" "6992" "0" "c.6992C>G" "r.(?)" "p.(Ala2331Gly)" "16" "" "0000827883" "00023950" "70" "6992" "0" "6992" "0" "c.6992C>G" "r.(?)" "p.(Ala2331Gly)" "16" "" "0000827884" "00023950" "10" "8161" "21" "8161" "21" "c.8161+21T>C" "r.spl?" "p.(?)" "22i" "" "0000827885" "00023950" "50" "2813" "0" "2813" "0" "c.2813C>T" "r.(?)" "p.(Thr938Met)" "11" "" "0000827886" "00023950" "50" "2081" "0" "2081" "0" "c.2081C>T" "r.(?)" "p.(Pro694Leu)" "10" "" "0000827890" "00023950" "10" "8713" "0" "8713" "0" "c.8713G>A" "r.(?)" "p.(Val2905Ile)" "23" "" "0000827891" "00023950" "30" "3502" "0" "3502" "0" "c.3502C>G" "r.(?)" "p.(Pro1168Ala)" "15" "" "0000827892" "00023950" "50" "9634" "0" "9634" "0" "c.9634T>G" "r.(?)" "p.(Phe3212Val)" "28" "" "0000827893" "00023950" "50" "9635" "0" "9635" "0" "c.9635T>C" "r.(?)" "p.(Phe3212Ser)" "28" "" "0000840980" "00023950" "50" "2153" "0" "2153" "0" "c.2153A>G" "r.(?)" "p.(Gln718Arg)" "" "" "0000847033" "00023950" "70" "10219" "0" "10219" "0" "c.10219A>G" "r.(?)" "p.(Ser3407Gly)" "" "" "0000854318" "00023950" "30" "54859" "0" "54859" "0" "c.*41947T>C" "r.(=)" "p.(=)" "" "" "0000854319" "00023950" "30" "49272" "0" "49272" "0" "c.*36360G>A" "r.(=)" "p.(=)" "" "" "0000854320" "00023950" "30" "49248" "0" "49248" "0" "c.*36336T>A" "r.(=)" "p.(=)" "" "" "0000854321" "00023950" "50" "48238" "0" "48238" "0" "c.*35326C>T" "r.(=)" "p.(=)" "" "" "0000854322" "00023950" "50" "45895" "0" "45895" "0" "c.*32983T>C" "r.(=)" "p.(=)" "" "" "0000854323" "00023950" "30" "40119" "0" "40119" "0" "c.*27207G>T" "r.(=)" "p.(=)" "" "" "0000854324" "00023950" "30" "28437" "0" "28437" "0" "c.*15525G>A" "r.(=)" "p.(=)" "" "" "0000854325" "00023950" "30" "23595" "0" "23595" "0" "c.*10683C>T" "r.(=)" "p.(=)" "" "" "0000854326" "00023950" "30" "23448" "0" "23448" "0" "c.*10536C>T" "r.(=)" "p.(=)" "" "" "0000854327" "00023950" "10" "23448" "0" "23448" "0" "c.*10536C>G" "r.(=)" "p.(=)" "" "" "0000854328" "00023950" "50" "22397" "0" "22397" "0" "c.*9485G>A" "r.(=)" "p.(=)" "" "" "0000854329" "00023950" "50" "22321" "0" "22321" "0" "c.*9409G>A" "r.(=)" "p.(=)" "" "" "0000854330" "00023950" "50" "17358" "0" "17358" "0" "c.*4446C>T" "r.(=)" "p.(=)" "" "" "0000854331" "00023950" "30" "17299" "0" "17299" "0" "c.*4387C>T" "r.(=)" "p.(=)" "" "" "0000854332" "00023950" "30" "15828" "0" "15828" "0" "c.*2916G>A" "r.(=)" "p.(=)" "" "" "0000854333" "00023950" "90" "14698" "0" "14698" "0" "c.*1786C>G" "r.(=)" "p.(=)" "" "" "0000854334" "00023950" "30" "14543" "0" "14543" "0" "c.*1631C>T" "r.(=)" "p.(=)" "" "" "0000854335" "00023950" "30" "12769" "0" "12769" "0" "c.12769G>A" "r.(?)" "p.(Gly4257Arg)" "" "" "0000854336" "00023950" "30" "12690" "0" "12690" "0" "c.12690C>T" "r.(?)" "p.(Asn4230=)" "" "" "0000854337" "00023950" "90" "12154" "0" "12154" "0" "c.12154dup" "r.(?)" "p.(Val4052Glyfs*105)" "" "" "0000854338" "00023950" "30" "11965" "0" "11965" "0" "c.11965G>A" "r.(?)" "p.(Gly3989Ser)" "" "" "0000854339" "00023950" "50" "11754" "0" "11754" "0" "c.11754G>C" "r.(?)" "p.(Glu3918Asp)" "" "" "0000854340" "00023950" "30" "11688" "0" "11688" "0" "c.11688C>T" "r.(?)" "p.(Gly3896=)" "" "" "0000854341" "00023950" "30" "11589" "0" "11589" "0" "c.11589G>A" "r.(?)" "p.(Leu3863=)" "" "" "0000854342" "00023950" "30" "11466" "0" "11466" "0" "c.11466G>T" "r.(?)" "p.(Glu3822Asp)" "" "" "0000854343" "00023950" "90" "11342" "0" "11349" "0" "c.11342_11349del" "r.(?)" "p.(Tyr3781Trpfs*32)" "" "" "0000854344" "00023950" "30" "11337" "0" "11337" "0" "c.11337C>G" "r.(?)" "p.(Ser3779Arg)" "" "" "0000854345" "00023950" "70" "11258" "0" "11258" "0" "c.11258G>A" "r.(?)" "p.(Arg3753Gln)" "" "" "0000854346" "00023950" "30" "10911" "0" "10911" "0" "c.10911G>A" "r.(?)" "p.(Thr3637=)" "" "" "0000854347" "00023950" "70" "10829" "0" "10829" "0" "c.10829T>G" "r.(?)" "p.(Leu3610Arg)" "" "" "0000854348" "00023950" "30" "10822" "-8" "10822" "-8" "c.10822-8del" "r.(=)" "p.(=)" "" "" "0000854349" "00023950" "50" "10619" "0" "10619" "0" "c.10619G>C" "r.(?)" "p.(Gly3540Ala)" "" "" "0000854350" "00023950" "30" "10602" "0" "10602" "0" "c.10602G>A" "r.(?)" "p.(Ala3534=)" "" "" "0000854351" "00023950" "30" "10602" "0" "10602" "0" "c.10602G>A" "r.(?)" "p.(Ala3534=)" "" "" "0000854352" "00023950" "10" "10400" "0" "10400" "0" "c.10400C>T" "r.(?)" "p.(Ala3467Val)" "" "" "0000854353" "00023950" "30" "10220" "7" "10220" "7" "c.10220+7T>G" "r.(=)" "p.(=)" "" "" "0000854354" "00023950" "50" "9991" "0" "9991" "0" "c.9991G>A" "r.(?)" "p.(Val3331Met)" "" "" "0000854355" "00023950" "10" "9924" "-11" "9924" "-11" "c.9924-11C>T" "r.(=)" "p.(=)" "" "" "0000854356" "00023950" "50" "9841" "0" "9841" "0" "c.9841G>C" "r.(?)" "p.(Ala3281Pro)" "" "" "0000854357" "00023950" "90" "9616" "0" "9616" "0" "c.9616C>T" "r.(?)" "p.(Gln3206*)" "" "" "0000854358" "00023950" "30" "9568" "8" "9568" "8" "c.9568+8C>T" "r.(=)" "p.(=)" "" "" "0000854359" "00023950" "30" "9506" "0" "9506" "0" "c.9506G>A" "r.(?)" "p.(Arg3169Gln)" "" "" "0000854360" "00023950" "70" "8935" "0" "8937" "0" "c.8935_8937del" "r.(?)" "p.(Phe2979del)" "" "" "0000854361" "00023950" "30" "8666" "0" "8674" "0" "c.8666_8674del" "r.(?)" "p.(Ser2889_Ala2891del)" "" "" "0000854362" "00023950" "90" "8429" "0" "8430" "0" "c.8429_8430del" "r.(?)" "p.(Glu2810Glyfs*11)" "" "" "0000854363" "00023950" "30" "8187" "0" "8187" "0" "c.8187G>A" "r.(?)" "p.(Ser2729=)" "" "" "0000854364" "00023950" "30" "8161" "12" "8161" "12" "c.8161+12C>T" "r.(=)" "p.(=)" "" "" "0000854365" "00023950" "30" "7848" "0" "7848" "0" "c.7848C>T" "r.(?)" "p.(Val2616=)" "" "" "0000854366" "00023950" "50" "7810" "0" "7810" "0" "c.7810G>A" "r.(?)" "p.(Asp2604Asn)" "" "" "0000854367" "00023950" "30" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Cys)" "" "" "0000854368" "00023950" "30" "6915" "14" "6915" "14" "c.6915+14A>G" "r.(=)" "p.(=)" "" "" "0000854369" "00023950" "90" "6696" "0" "6699" "0" "c.6696_6699del" "r.(?)" "p.(Phe2232Leufs*9)" "" "" "0000854370" "00023950" "30" "6396" "0" "6396" "0" "c.6396C>T" "r.(?)" "p.(Phe2132=)" "" "" "0000854371" "00023950" "50" "6395" "0" "6395" "0" "c.6395T>G" "r.(?)" "p.(Phe2132Cys)" "" "" "0000854372" "00023950" "30" "6363" "0" "6363" "0" "c.6363C>T" "r.(?)" "p.(Arg2121=)" "" "" "0000854373" "00023950" "30" "6180" "0" "6180" "0" "c.6180C>T" "r.(?)" "p.(Ala2060=)" "" "" "0000854374" "00023950" "10" "5772" "0" "5772" "0" "c.5772C>T" "r.(?)" "p.(Gly1924=)" "" "" "0000854375" "00023950" "30" "5648" "0" "5648" "0" "c.5648C>T" "r.(?)" "p.(Ala1883Val)" "" "" "0000854376" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672Glyfs*98)" "" "" "0000854377" "00023950" "30" "4836" "0" "4836" "0" "c.4836G>A" "r.(?)" "p.(Thr1612=)" "" "" "0000854378" "00023950" "30" "4684" "0" "4684" "0" "c.4684C>T" "r.(?)" "p.(Leu1562=)" "" "" "0000854379" "00023950" "50" "4639" "0" "4639" "0" "c.4639C>T" "r.(?)" "p.(Arg1547Cys)" "" "" "0000854380" "00023950" "30" "4524" "0" "4524" "0" "c.4524C>T" "r.(?)" "p.(Leu1508=)" "" "" "0000854381" "00023950" "30" "4485" "0" "4485" "0" "c.4485C>T" "r.(?)" "p.(Pro1495=)" "" "" "0000854382" "00023950" "10" "4071" "0" "4071" "0" "c.4071G>T" "r.(?)" "p.(Leu1357=)" "" "" "0000854383" "00023950" "50" "3437" "0" "3439" "0" "c.3437_3439del" "r.(?)" "p.(Phe1146del)" "" "" "0000854384" "00023950" "50" "3437" "0" "3439" "0" "c.3437_3439del" "r.(?)" "p.(Phe1146del)" "" "" "0000854385" "00023950" "30" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "" "0000854386" "00023950" "30" "3429" "0" "3429" "0" "c.3429C>T" "r.(?)" "p.(Pro1143=)" "" "" "0000854387" "00023950" "30" "3369" "0" "3369" "0" "c.3369C>T" "r.(?)" "p.(Arg1123=)" "" "" "0000854388" "00023950" "30" "3303" "0" "3303" "0" "c.3303C>T" "r.(?)" "p.(Tyr1101=)" "" "" "0000854389" "00023950" "10" "3242" "0" "3242" "0" "c.3242C>T" "r.(?)" "p.(Ser1081Leu)" "" "" "0000854390" "00023950" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Cys885=)" "" "" "0000854391" "00023950" "30" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Pro839Ser)" "" "" "0000854392" "00023950" "30" "2235" "0" "2235" "0" "c.2235C>G" "r.(?)" "p.(Ala745=)" "" "" "0000854393" "00023950" "30" "2085" "0" "2085" "0" "c.2085C>T" "r.(?)" "p.(Pro695=)" "" "" "0000854394" "00023950" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Leu511=)" "" "" "0000854395" "00023950" "10" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "" "0000854396" "00023950" "10" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(His201=)" "" "" "0000854397" "00023950" "30" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Ser196=)" "" "" "0000854398" "00023950" "90" "348" "0" "352" "0" "c.348_352del" "r.(?)" "p.(Asn116Lysfs*2)" "" "" "0000864358" "00023950" "50" "56303" "0" "56303" "0" "c.*43391G>A" "r.(=)" "p.(=)" "" "" "0000864359" "00023950" "30" "49268" "0" "49268" "0" "c.*36356G>A" "r.(=)" "p.(=)" "" "" "0000864360" "00023950" "50" "48277" "0" "48277" "0" "c.*35365C>T" "r.(=)" "p.(=)" "" "" "0000864361" "00023950" "30" "47103" "0" "47103" "0" "c.*34191C>G" "r.(=)" "p.(=)" "" "" "0000864362" "00023950" "30" "46461" "0" "46461" "0" "c.*33549C>G" "r.(=)" "p.(=)" "" "" "0000864363" "00023950" "30" "46410" "0" "46410" "0" "c.*33498G>A" "r.(=)" "p.(=)" "" "" "0000864364" "00023950" "50" "45944" "0" "45944" "0" "c.*33032C>G" "r.(=)" "p.(=)" "" "" "0000864365" "00023950" "30" "40082" "0" "40082" "0" "c.*27170C>T" "r.(=)" "p.(=)" "" "" "0000864366" "00023950" "50" "39644" "0" "39644" "0" "c.*26732C>T" "r.(=)" "p.(=)" "" "" "0000864367" "00023950" "30" "39642" "0" "39642" "0" "c.*26730T>C" "r.(=)" "p.(=)" "" "" "0000864368" "00023950" "30" "39631" "0" "39631" "0" "c.*26719C>T" "r.(=)" "p.(=)" "" "" "0000864369" "00023950" "30" "39572" "0" "39572" "0" "c.*26660G>T" "r.(=)" "p.(=)" "" "" "0000864371" "00023950" "30" "32153" "0" "32153" "0" "c.*19241C>T" "r.(=)" "p.(=)" "" "" "0000864372" "00023950" "30" "30829" "0" "30829" "0" "c.*17917T>G" "r.(=)" "p.(=)" "" "" "0000864373" "00023950" "30" "30771" "0" "30771" "0" "c.*17859G>A" "r.(=)" "p.(=)" "" "" "0000864374" "00023950" "50" "28303" "0" "28303" "0" "c.*15391G>A" "r.(=)" "p.(=)" "" "" "0000864376" "00023950" "30" "18939" "0" "18939" "0" "c.*6027C>T" "r.(=)" "p.(=)" "" "" "0000864377" "00023950" "10" "18842" "0" "18842" "0" "c.*5930C>T" "r.(=)" "p.(=)" "" "" "0000864378" "00023950" "30" "18148" "0" "18148" "0" "c.*5236C>T" "r.(=)" "p.(=)" "" "" "0000864379" "00023950" "30" "17646" "0" "17646" "0" "c.*4734G>A" "r.(=)" "p.(=)" "" "" "0000864380" "00023950" "30" "17646" "0" "17646" "0" "c.*4734G>A" "r.(=)" "p.(=)" "" "" "0000864381" "00023950" "30" "15894" "0" "15894" "0" "c.*2982G>A" "r.(=)" "p.(=)" "" "" "0000864382" "00023950" "10" "15798" "0" "15798" "0" "c.*2886G>A" "r.(=)" "p.(=)" "" "" "0000864383" "00023950" "30" "14554" "0" "14554" "0" "c.*1642G>T" "r.(=)" "p.(=)" "" "" "0000864384" "00023950" "30" "14554" "0" "14554" "0" "c.*1642G>T" "r.(=)" "p.(=)" "" "" "0000864385" "00023950" "10" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "" "" "0000864386" "00023950" "30" "12765" "0" "12765" "0" "c.12765C>T" "r.(?)" "p.(Pro4255=)" "" "" "0000864387" "00023950" "90" "12725" "0" "12735" "0" "c.12725_12735dup" "r.(?)" "p.(Leu4246Serfs*116)" "" "" "0000864388" "00023950" "90" "12712" "0" "12712" "0" "c.12712C>T" "r.(?)" "p.(Gln4238*)" "" "" "0000864389" "00023950" "90" "12682" "0" "12682" "0" "c.12682C>T" "r.(?)" "p.(Arg4228*)" "" "" "0000864390" "00023950" "30" "12664" "0" "12664" "0" "c.12664C>T" "r.(?)" "p.(Leu4222=)" "" "" "0000864391" "00023950" "90" "12615" "0" "12615" "0" "c.12615dup" "r.(?)" "p.(Thr4206Aspfs*4)" "" "" "0000864392" "00023950" "90" "12489" "0" "12490" "0" "c.12489_12490del" "r.(?)" "p.(Arg4164Leufs*45)" "" "" "0000864393" "00023950" "70" "12448" "0" "12448" "0" "c.12448C>T" "r.(?)" "p.(Arg4150Cys)" "" "" "0000864394" "00023950" "90" "12449" "0" "12450" "0" "c.12449_12450insAACG" "r.(?)" "p.(His4151Thrfs*7)" "" "" "0000864395" "00023950" "30" "12244" "0" "12244" "0" "c.12244C>T" "r.(?)" "p.(Leu4082=)" "" "" "0000864396" "00023950" "90" "11987" "0" "11990" "0" "c.11987_11990del" "r.(?)" "p.(Phe3996Cysfs*42)" "" "" "0000864397" "00023950" "30" "11976" "0" "11976" "0" "c.11976C>G" "r.(?)" "p.(Ala3992=)" "" "" "0000864398" "00023950" "50" "11942" "0" "11942" "0" "c.11942C>T" "r.(?)" "p.(Ala3981Val)" "" "" "0000864399" "00023950" "50" "11875" "0" "11875" "0" "c.11875G>A" "r.(?)" "p.(Ala3959Thr)" "" "" "0000864400" "00023950" "70" "11830" "0" "11838" "0" "c.11830_11838dup" "r.(?)" "p.(Leu3944_Ala3946dup)" "" "" "0000864401" "00023950" "30" "11784" "0" "11784" "0" "c.11784G>T" "r.(?)" "p.(Trp3928Cys)" "" "" "0000864402" "00023950" "30" "11783" "0" "11783" "0" "c.11783G>T" "r.(?)" "p.(Trp3928Leu)" "" "" "0000864403" "00023950" "30" "11751" "0" "11751" "0" "c.11751C>T" "r.(?)" "p.(Ala3917=)" "" "" "0000864404" "00023950" "90" "11718" "0" "11718" "0" "c.11718C>A" "r.(?)" "p.(Cys3906*)" "" "" "0000864405" "00023950" "50" "11717" "0" "11717" "0" "c.11717G>A" "r.(?)" "p.(Cys3906Tyr)" "" "" "0000864406" "00023950" "30" "11712" "29" "11712" "29" "c.11712+29C>T" "r.(=)" "p.(=)" "" "" "0000864407" "00023950" "30" "11652" "0" "11652" "0" "c.11652C>T" "r.(?)" "p.(Ser3884=)" "" "" "0000864408" "00023950" "70" "11639" "0" "11639" "0" "c.11639T>C" "r.(?)" "p.(Leu3880Pro)" "" "" "0000864409" "00023950" "30" "11627" "0" "11627" "0" "c.11627C>T" "r.(?)" "p.(Ala3876Val)" "" "" "0000864410" "00023950" "30" "11577" "0" "11577" "0" "c.11577G>T" "r.(?)" "p.(Pro3859=)" "" "" "0000864411" "00023950" "10" "11577" "0" "11577" "0" "c.11577G>T" "r.(?)" "p.(Pro3859=)" "" "" "0000864412" "00023950" "90" "11537" "1" "11537" "1" "c.11537+1del" "r.spl?" "p.?" "" "" "0000864413" "00023950" "90" "11531" "0" "11534" "0" "c.11531_11534del" "r.(?)" "p.(Asp3844Alafs*100)" "" "" "0000864414" "00023950" "90" "11512" "0" "11512" "0" "c.11512C>T" "r.(?)" "p.(Gln3838*)" "" "" "0000864415" "00023950" "30" "11473" "0" "11473" "0" "c.11473C>T" "r.(?)" "p.(Leu3825=)" "" "" "0000864416" "00023950" "90" "11453" "0" "11453" "0" "c.11453del" "r.(?)" "p.(Gly3818Alafs*8)" "" "" "0000864417" "00023950" "90" "11453" "0" "11453" "0" "c.11453dup" "r.(?)" "p.(Tyr3819Leufs*142)" "" "" "0000864418" "00023950" "30" "11356" "0" "11356" "0" "c.11356G>C" "r.(?)" "p.(Glu3786Gln)" "" "" "0000864419" "00023950" "50" "11354" "0" "11354" "0" "c.11354G>T" "r.(?)" "p.(Trp3785Leu)" "" "" "0000864420" "00023950" "90" "11343" "0" "11343" "0" "c.11343C>A" "r.(?)" "p.(Tyr3781Ter)" "" "" "0000864421" "00023950" "30" "11316" "0" "11316" "0" "c.11316C>G" "r.(?)" "p.(Ala3772=)" "" "" "0000864422" "00023950" "10" "11316" "0" "11316" "0" "c.11316C>G" "r.(?)" "p.(Ala3772=)" "" "" "0000864423" "00023950" "50" "11269" "0" "11269" "0" "c.11269G>C" "r.(?)" "p.(Ala3757Pro)" "" "" "0000864424" "00023950" "90" "11263" "0" "11263" "0" "c.11263C>T" "r.(?)" "p.(Gln3755*)" "" "" "0000864425" "00023950" "10" "11156" "13" "11156" "13" "c.11156+13G>A" "r.(=)" "p.(=)" "" "" "0000864426" "00023950" "70" "11156" "1" "11156" "1" "c.11156+1G>T" "r.spl?" "p.?" "" "" "0000864427" "00023950" "90" "11066" "0" "11066" "0" "c.11066dup" "r.(?)" "p.(Tyr3689*)" "" "" "0000864428" "00023950" "30" "11016" "14" "11016" "14" "c.11016+14C>T" "r.(=)" "p.(=)" "" "" "0000864429" "00023950" "30" "11015" "0" "11015" "0" "c.11015G>A" "r.(?)" "p.(Arg3672Gln)" "" "" "0000864430" "00023950" "50" "10939" "0" "10939" "0" "c.10939C>T" "r.(?)" "p.(Arg3647Trp)" "" "" "0000864431" "00023950" "50" "10920" "0" "10920" "0" "c.10920C>T" "r.(?)" "p.(Ser3640=)" "" "" "0000864432" "00023950" "70" "10819" "0" "10821" "2" "c.10819_10821+2del" "r.spl?" "p.?" "" "" "0000864433" "00023950" "70" "10772" "0" "10772" "0" "c.10772C>A" "r.(?)" "p.(Ser3591Tyr)" "" "" "0000864434" "00023950" "50" "10694" "0" "10694" "0" "c.10694T>C" "r.(?)" "p.(Leu3565Pro)" "" "" "0000864435" "00023950" "30" "10654" "0" "10654" "0" "c.10654G>T" "r.(?)" "p.(Ala3552Ser)" "" "" "0000864436" "00023950" "30" "10643" "0" "10643" "0" "c.10643G>A" "r.(?)" "p.(Arg3548His)" "" "" "0000864437" "00023950" "10" "10529" "0" "10529" "0" "c.10529C>T" "r.(?)" "p.(Thr3510Met)" "" "" "0000864438" "00023950" "90" "10527" "0" "10528" "0" "c.10527_10528del" "r.(?)" "p.(Glu3509Aspfs*117)" "" "" "0000864439" "00023950" "30" "10406" "-13" "10406" "-13" "c.10406-13C>T" "r.(=)" "p.(=)" "" "" "0000864440" "00023950" "30" "10325" "0" "10325" "0" "c.10325C>T" "r.(?)" "p.(Ala3442Val)" "" "" "0000864441" "00023950" "50" "10296" "0" "10296" "0" "c.10296C>G" "r.(?)" "p.(Ser3432Arg)" "" "" "0000864442" "00023950" "30" "10221" "-13" "10221" "-13" "c.10221-13G>A" "r.(=)" "p.(=)" "" "" "0000864443" "00023950" "30" "10221" "-14" "10221" "-14" "c.10221-14C>T" "r.(=)" "p.(=)" "" "" "0000864444" "00023950" "90" "10074" "0" "10075" "0" "c.10074_10075del" "r.(?)" "p.(Pro3359Cysfs*30)" "" "" "0000864445" "00023950" "90" "10032" "0" "10036" "0" "c.10032_10036del" "r.(?)" "p.(Arg3345Valfs*43)" "" "" "0000864446" "00023950" "30" "9960" "0" "9960" "0" "c.9960C>T" "r.(?)" "p.(Val3320=)" "" "" "0000864447" "00023950" "30" "9924" "-11" "9924" "-11" "c.9924-11C>T" "r.(=)" "p.(=)" "" "" "0000864448" "00023950" "30" "9795" "0" "9795" "0" "c.9795C>T" "r.(?)" "p.(Ser3265=)" "" "" "0000864449" "00023950" "30" "9713" "-17" "9713" "-17" "c.9713-17C>G" "r.(=)" "p.(=)" "" "" "0000864450" "00023950" "10" "9669" "0" "9669" "0" "c.9669G>A" "r.(?)" "p.(Thr3223=)" "" "" "0000864451" "00023950" "90" "9570" "0" "9570" "0" "c.9570del" "r.(?)" "p.(Leu3191Serfs*125)" "" "" "0000864452" "00023950" "70" "9559" "0" "9561" "0" "c.9559_9561del" "r.(?)" "p.(Asp3187del)" "" "" "0000864453" "00023950" "50" "9499" "0" "9499" "0" "c.9499A>T" "r.(?)" "p.(Ile3167Phe)" "" "" "0000864454" "00023950" "50" "9457" "0" "9457" "0" "c.9457C>A" "r.(?)" "p.(His3153Asn)" "" "" "0000864455" "00023950" "70" "9398" "-2" "9398" "-2" "c.9398-2A>G" "r.spl?" "p.?" "" "" "0000864456" "00023950" "30" "9397" "12" "9397" "12" "c.9397+12A>G" "r.(=)" "p.(=)" "" "" "0000864457" "00023950" "30" "9330" "0" "9330" "0" "c.9330T>G" "r.(?)" "p.(Pro3110=)" "" "" "0000864458" "00023950" "90" "9324" "0" "9324" "0" "c.9324del" "r.(?)" "p.(Ile3109Serfs*207)" "" "" "0000864459" "00023950" "30" "9270" "0" "9270" "0" "c.9270C>T" "r.(?)" "p.(Val3090=)" "" "" "0000864460" "00023950" "30" "9165" "0" "9165" "0" "c.9165C>A" "r.(?)" "p.(Leu3055=)" "" "" "0000864461" "00023950" "90" "9034" "0" "9039" "0" "c.9034_9039del" "r.(?)" "p.(Thr3012_Ser3013del)" "" "" "0000864462" "00023950" "30" "8964" "0" "8964" "0" "c.8964G>A" "r.(?)" "p.(Ala2988=)" "" "" "0000864463" "00023950" "30" "8949" "-20" "8949" "-20" "c.8949-20G>A" "r.(=)" "p.(=)" "" "" "0000864464" "00023950" "30" "8948" "17" "8948" "17" "c.8948+17A>G" "r.(=)" "p.(=)" "" "" "0000864465" "00023950" "30" "8948" "11" "8948" "11" "c.8948+11C>T" "r.(=)" "p.(=)" "" "" "0000864466" "00023950" "70" "8935" "0" "8937" "0" "c.8935_8937del" "r.(?)" "p.(Phe2979del)" "" "" "0000864467" "00023950" "10" "8913" "0" "8913" "0" "c.8913T>C" "r.(?)" "p.(Ala2971=)" "" "" "0000864468" "00023950" "90" "8846" "0" "8847" "0" "c.8846_8847dup" "r.(?)" "p.(Pro2950Serfs*45)" "" "" "0000864469" "00023950" "30" "8713" "0" "8713" "0" "c.8713G>A" "r.(?)" "p.(Val2905Ile)" "" "" "0000864470" "00023950" "50" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Ala2891Thr)" "" "" "0000864471" "00023950" "50" "8593" "0" "8593" "0" "c.8593C>T" "r.(?)" "p.(Arg2865Trp)" "" "" "0000864472" "00023950" "30" "8463" "0" "8463" "0" "c.8463C>T" "r.(?)" "p.(Asp2821=)" "" "" "0000864473" "00023950" "10" "8439" "0" "8439" "0" "c.8439C>T" "r.(?)" "p.(Ser2813=)" "" "" "0000864474" "00023950" "90" "8320" "0" "8321" "0" "c.8320_8321del" "r.(?)" "p.(Leu2774Aspfs*47)" "" "" "0000864475" "00023950" "90" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "" "" "0000864476" "00023950" "30" "8281" "0" "8281" "0" "c.8281C>T" "r.(?)" "p.(Arg2761Cys)" "" "" "0000864477" "00023950" "50" "8267" "0" "8267" "0" "c.8267C>T" "r.(?)" "p.(Thr2756Ile)" "" "" "0000864478" "00023950" "50" "8263" "0" "8263" "0" "c.8263C>G" "r.(?)" "p.(Leu2755Val)" "" "" "0000864479" "00023950" "30" "8247" "0" "8247" "0" "c.8247G>A" "r.(?)" "p.(Ala2749=)" "" "" "0000864480" "00023950" "30" "8204" "0" "8204" "0" "c.8204A>T" "r.(?)" "p.(Gln2735Leu)" "" "" "0000864481" "00023950" "30" "8200" "0" "8200" "0" "c.8200C>A" "r.(?)" "p.(Pro2734Thr)" "" "" "0000864482" "00023950" "70" "8162" "-12" "8171" "0" "c.8162-12_8171del" "r.spl?" "p.?" "" "" "0000864483" "00023950" "30" "8161" "7" "8161" "7" "c.8161+7C>T" "r.(=)" "p.(=)" "" "" "0000864484" "00023950" "90" "8126" "0" "8126" "0" "c.8126C>T" "r.(?)" "p.(Pro2709Leu)" "" "" "0000864485" "00023950" "90" "8127" "0" "8127" "0" "c.8127del" "r.(?)" "p.(Thr2710Profs*46)" "" "" "0000864486" "00023950" "30" "8118" "0" "8118" "0" "c.8118C>T" "r.(?)" "p.(Thr2706=)" "" "" "0000864487" "00023950" "30" "8109" "0" "8109" "0" "c.8109C>T" "r.(?)" "p.(Thr2703=)" "" "" "0000864488" "00023950" "50" "8041" "0" "8041" "0" "c.8041C>T" "r.(?)" "p.(Arg2681Cys)" "" "" "0000864489" "00023950" "10" "8037" "0" "8037" "0" "c.8037A>G" "r.(?)" "p.(Val2679=)" "" "" "0000864490" "00023950" "30" "8020" "0" "8020" "0" "c.8020C>T" "r.(?)" "p.(Pro2674Ser)" "" "" "0000864491" "00023950" "50" "7978" "0" "7978" "0" "c.7978G>C" "r.(?)" "p.(Asp2660His)" "" "" "0000864492" "00023950" "90" "7973" "0" "7974" "0" "c.7973_7974del" "r.(?)" "p.(Val2658Glyfs*2)" "" "" "0000864493" "00023950" "90" "7973" "0" "7974" "0" "c.7973_7974del" "r.(?)" "p.(Val2658Glyfs*2)" "" "" "0000864494" "00023950" "50" "7928" "0" "7928" "0" "c.7928G>C" "r.(?)" "p.(Arg2643Pro)" "" "" "0000864495" "00023950" "70" "7927" "0" "7927" "0" "c.7927C>T" "r.(?)" "p.(Arg2643Cys)" "" "" "0000864496" "00023950" "50" "7906" "0" "7906" "0" "c.7906C>T" "r.(?)" "p.(Arg2636Trp)" "" "" "0000864497" "00023950" "50" "7870" "0" "7870" "0" "c.7870C>T" "r.(?)" "p.(Arg2624Trp)" "" "" "0000864498" "00023950" "30" "7863" "13" "7863" "13" "c.7863+13T>C" "r.(=)" "p.(=)" "" "" "0000864499" "00023950" "50" "7679" "0" "7679" "0" "c.7679G>T" "r.(?)" "p.(Gly2560Val)" "" "" "0000864500" "00023950" "30" "7648" "0" "7648" "0" "c.7648G>A" "r.(?)" "p.(Gly2550Ser)" "" "" "0000864501" "00023950" "70" "7625" "0" "7625" "0" "c.7625G>A" "r.(?)" "p.(Gly2542Asp)" "" "" "0000864502" "00023950" "30" "7614" "0" "7614" "0" "c.7614G>A" "r.(?)" "p.(Val2538=)" "" "" "0000864503" "00023950" "90" "7579" "0" "7580" "0" "c.7579_7580del" "r.(?)" "p.(Val2527Leufs*67)" "" "" "0000864504" "00023950" "30" "7566" "0" "7566" "0" "c.7566C>T" "r.(?)" "p.(Cys2522=)" "" "" "0000864505" "00023950" "70" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "" "" "0000864506" "00023950" "50" "7391" "0" "7391" "0" "c.7391G>C" "r.(?)" "p.(Arg2464Pro)" "" "" "0000864507" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430*)" "" "" "0000864508" "00023950" "30" "7278" "0" "7278" "0" "c.7278T>C" "r.(?)" "p.(Ser2426=)" "" "" "0000864509" "00023950" "10" "7209" "18" "7209" "18" "c.7209+18T>G" "r.(=)" "p.(=)" "" "" "0000864510" "00023950" "30" "7209" "13" "7209" "13" "c.7209+13C>G" "r.(=)" "p.(=)" "" "" "0000864511" "00023950" "30" "7209" "11" "7209" "11" "c.7209+11A>G" "r.(=)" "p.(=)" "" "" "0000864512" "00023950" "90" "7120" "0" "7120" "0" "c.7120A>T" "r.(?)" "p.(Lys2374*)" "" "" "0000864513" "00023950" "30" "7065" "11" "7065" "11" "c.7065+11C>T" "r.(=)" "p.(=)" "" "" "0000864514" "00023950" "50" "7034" "0" "7034" "0" "c.7034C>T" "r.(?)" "p.(Ala2345Val)" "" "" "0000864515" "00023950" "30" "7018" "0" "7018" "0" "c.7018C>T" "r.(?)" "p.(Leu2340=)" "" "" "0000864516" "00023950" "90" "7008" "0" "7008" "0" "c.7008C>A" "r.(?)" "p.(Tyr2336*)" "" "" "0000864517" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000dup" "r.(?)" "p.(Val2334Glyfs*88)" "" "" "0000864518" "00023950" "30" "6986" "0" "6986" "0" "c.6986G>A" "r.(?)" "p.(Arg2329Gln)" "" "" "0000864519" "00023950" "30" "6927" "0" "6927" "0" "c.6927C>T" "r.(?)" "p.(Gly2309=)" "" "" "0000864520" "00023950" "30" "6915" "14" "6915" "14" "c.6915+14A>G" "r.(=)" "p.(=)" "" "" "0000864521" "00023950" "90" "6859" "0" "6859" "0" "c.6859G>T" "r.(?)" "p.(Glu2287*)" "" "" "0000864522" "00023950" "70" "6778" "0" "6780" "0" "c.6778_6780del" "r.(?)" "p.(Ile2260del)" "" "" "0000864523" "00023950" "30" "6679" "0" "6679" "0" "c.6679C>T" "r.(?)" "p.(His2227Tyr)" "" "" "0000864524" "00023950" "30" "6665" "0" "6665" "0" "c.6665C>T" "r.(?)" "p.(Ala2222Val)" "" "" "0000864525" "00023950" "70" "6637" "0" "6637" "0" "c.6637C>T" "r.(?)" "p.(Arg2213Trp)" "" "" "0000864526" "00023950" "30" "6621" "0" "6621" "0" "c.6621C>G" "r.(?)" "p.(Pro2207=)" "" "" "0000864527" "00023950" "30" "6593" "0" "6593" "0" "c.6593C>T" "r.(?)" "p.(Pro2198Leu)" "" "" "0000864528" "00023950" "90" "6583" "0" "6589" "0" "c.6583_6589del" "r.(?)" "p.(Cys2195Glyfs*15)" "" "" "0000864529" "00023950" "50" "6556" "0" "6556" "0" "c.6556C>T" "r.(?)" "p.(Arg2186Cys)" "" "" "0000864530" "00023950" "70" "6549" "0" "6550" "0" "c.6549_6550del" "r.(?)" "p.(Glu2184Valfs*77)" "" "" "0000864531" "00023950" "30" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "" "" "0000864532" "00023950" "50" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "" "" "0000864533" "00023950" "90" "6487" "0" "6487" "0" "c.6487C>T" "r.(?)" "p.(Arg2163*)" "" "" "0000864534" "00023950" "50" "6434" "0" "6434" "0" "c.6434C>T" "r.(?)" "p.(Ala2145Val)" "" "" "0000864535" "00023950" "70" "6397" "0" "6399" "0" "c.6397_6399del" "r.(?)" "p.(Phe2133del)" "" "" "0000864536" "00023950" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(Asn2128Ser)" "" "" "0000864537" "00023950" "30" "6297" "0" "6297" "0" "c.6297G>T" "r.(?)" "p.(Gly2099=)" "" "" "0000864538" "00023950" "30" "6259" "0" "6259" "0" "c.6259C>T" "r.(?)" "p.(Pro2087Ser)" "" "" "0000864539" "00023950" "50" "6223" "0" "6223" "0" "c.6223C>T" "r.(?)" "p.(Arg2075Cys)" "" "" "0000864540" "00023950" "50" "6164" "0" "6164" "0" "c.6164T>C" "r.(?)" "p.(Leu2055Pro)" "" "" "0000864541" "00023950" "50" "6151" "0" "6151" "0" "c.6151C>T" "r.(?)" "p.(Arg2051Cys)" "" "" "0000864542" "00023950" "30" "6071" "0" "6071" "0" "c.6071G>A" "r.(?)" "p.(Arg2024His)" "" "" "0000864543" "00023950" "50" "6023" "0" "6025" "0" "c.6023_6025del" "r.(?)" "p.(Phe2008del)" "" "" "0000864544" "00023950" "30" "6007" "0" "6007" "0" "c.6007G>A" "r.(?)" "p.(Ala2003Thr)" "" "" "0000864545" "00023950" "30" "5985" "0" "5985" "0" "c.5985C>T" "r.(?)" "p.(Arg1995=)" "" "" "0000864546" "00023950" "30" "5979" "0" "5979" "0" "c.5979A>G" "r.(?)" "p.(Thr1993=)" "" "" "0000864547" "00023950" "30" "5963" "0" "5963" "0" "c.5963C>T" "r.(?)" "p.(Thr1988Ile)" "" "" "0000864548" "00023950" "30" "5928" "0" "5928" "0" "c.5928G>C" "r.(?)" "p.(Val1976=)" "" "" "0000864549" "00023950" "90" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Gln1962*)" "" "" "0000864550" "00023950" "90" "5861" "0" "5861" "0" "c.5861dup" "r.(?)" "p.(Asn1954Lysfs*36)" "" "" "0000864551" "00023950" "50" "5842" "0" "5844" "0" "c.5842_5844del" "r.(?)" "p.(Val1948del)" "" "" "0000864552" "00023950" "50" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Gly1944Arg)" "" "" "0000864553" "00023950" "30" "5772" "0" "5772" "0" "c.5772C>T" "r.(?)" "p.(Gly1924=)" "" "" "0000864554" "00023950" "10" "5763" "0" "5763" "0" "c.5763G>A" "r.(?)" "p.(Leu1921=)" "" "" "0000864555" "00023950" "50" "5758" "0" "5758" "0" "c.5758C>T" "r.(?)" "p.(Arg1920Cys)" "" "" "0000864556" "00023950" "30" "5682" "0" "5682" "0" "c.5682C>T" "r.(?)" "p.(Ala1894=)" "" "" "0000864557" "00023950" "90" "5622" "0" "5622" "0" "c.5622G>A" "r.(?)" "p.(Trp1874*)" "" "" "0000864558" "00023950" "50" "5568" "0" "5568" "0" "c.5568C>G" "r.(?)" "p.(Phe1856Leu)" "" "" "0000864559" "00023950" "30" "5532" "0" "5532" "0" "c.5532C>T" "r.(?)" "p.(Gly1844=)" "" "" "0000864560" "00023950" "10" "5454" "0" "5454" "0" "c.5454G>A" "r.(?)" "p.(Ala1818=)" "" "" "0000864561" "00023950" "50" "5245" "0" "5245" "0" "c.5245G>A" "r.(?)" "p.(Val1749Ile)" "" "" "0000864562" "00023950" "50" "5180" "0" "5180" "0" "c.5180C>T" "r.(?)" "p.(Pro1727Leu)" "" "" "0000864563" "00023950" "30" "5115" "0" "5115" "0" "c.5115C>T" "r.(?)" "p.(Ser1705=)" "" "" "0000864564" "00023950" "70" "5108" "0" "5108" "0" "c.5108T>C" "r.(?)" "p.(Leu1703Pro)" "" "" "0000864565" "00023950" "30" "5070" "0" "5070" "0" "c.5070C>T" "r.(?)" "p.(Ala1690=)" "" "" "0000864566" "00023950" "10" "5051" "0" "5051" "0" "c.5051C>T" "r.(?)" "p.(Ser1684Leu)" "" "" "0000864567" "00023950" "30" "5028" "0" "5028" "0" "c.5028G>A" "r.(?)" "p.(Leu1676=)" "" "" "0000864568" "00023950" "90" "4951" "0" "4951" "0" "c.4951C>T" "r.(?)" "p.(Gln1651*)" "" "" "0000864569" "00023950" "30" "4856" "0" "4856" "0" "c.4856C>T" "r.(?)" "p.(Ser1619Phe)" "" "" "0000864570" "00023950" "30" "4845" "0" "4845" "0" "c.4845C>T" "r.(?)" "p.(Asn1615=)" "" "" "0000864571" "00023950" "30" "4836" "0" "4836" "0" "c.4836G>A" "r.(?)" "p.(Thr1612=)" "" "" "0000864572" "00023950" "70" "4828" "0" "4830" "0" "c.4828_4830del" "r.(?)" "p.(Ile1610del)" "" "" "0000864573" "00023950" "50" "4828" "0" "4830" "0" "c.4828_4830del" "r.(?)" "p.(Ile1610del)" "" "" "0000864574" "00023950" "50" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Arg1602Cys)" "" "" "0000864575" "00023950" "90" "4797" "0" "4797" "0" "c.4797C>G" "r.(?)" "p.(Tyr1599*)" "" "" "0000864576" "00023950" "30" "4788" "0" "4788" "0" "c.4788C>T" "r.(?)" "p.(Thr1596=)" "" "" "0000864577" "00023950" "50" "4759" "0" "4759" "0" "c.4759C>T" "r.(?)" "p.(Arg1587Cys)" "" "" "0000864578" "00023950" "70" "4745" "0" "4745" "0" "c.4745G>T" "r.(?)" "p.(Trp1582Leu)" "" "" "0000864579" "00023950" "30" "4519" "0" "4519" "0" "c.4519T>C" "r.(?)" "p.(Trp1507Arg)" "" "" "0000864580" "00023950" "30" "4495" "0" "4495" "0" "c.4495C>T" "r.(?)" "p.(Leu1499=)" "" "" "0000864581" "00023950" "30" "4475" "0" "4475" "0" "c.4475G>C" "r.(?)" "p.(Arg1492Pro)" "" "" "0000864582" "00023950" "90" "4370" "0" "4370" "0" "c.4370C>G" "r.(?)" "p.(Ser1457*)" "" "" "0000864583" "00023950" "30" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(Ile1434=)" "" "" "0000864584" "00023950" "50" "4136" "0" "4136" "0" "c.4136A>T" "r.(?)" "p.(Glu1379Val)" "" "" "0000864585" "00023950" "70" "4136" "0" "4136" "0" "c.4136A>G" "r.(?)" "p.(Glu1379Gly)" "" "" "0000864586" "00023950" "30" "4071" "0" "4071" "0" "c.4071G>T" "r.(?)" "p.(Leu1357=)" "" "" "0000864587" "00023950" "50" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Ser1352Asn)" "" "" "0000864588" "00023950" "50" "4049" "0" "4049" "0" "c.4049C>T" "r.(?)" "p.(Thr1350Met)" "" "" "0000864589" "00023950" "50" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Pro1343Leu)" "" "" "0000864590" "00023950" "30" "4014" "0" "4014" "0" "c.4014C>T" "r.(?)" "p.(Thr1338=)" "" "" "0000864591" "00023950" "30" "4014" "0" "4014" "0" "c.4014C>T" "r.(?)" "p.(Thr1338=)" "" "" "0000864592" "00023950" "30" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Ala1302Thr)" "" "" "0000864593" "00023950" "70" "3871" "0" "3871" "0" "c.3871G>T" "r.(?)" "p.(Val1291Phe)" "" "" "0000864594" "00023950" "90" "3866" "0" "3867" "0" "c.3866_3867insA" "r.(?)" "p.(Leu1290Alafs*11)" "" "" "0000864595" "00023950" "50" "3865" "0" "3865" "0" "c.3865G>A" "r.(?)" "p.(Val1289Met)" "" "" "0000864596" "00023950" "50" "3864" "0" "3864" "0" "c.3864C>A" "r.(?)" "p.(His1288Gln)" "" "" "0000864597" "00023950" "30" "3696" "0" "3696" "0" "c.3696C>T" "r.(?)" "p.(Ser1232=)" "" "" "0000864598" "00023950" "30" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Leu1221=)" "" "" "0000864600" "00023950" "30" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Arg1190His)" "" "" "0000864601" "00023950" "10" "3513" "0" "3513" "0" "c.3513C>G" "r.(?)" "p.(Thr1171=)" "" "" "0000864602" "00023950" "90" "3481" "0" "3481" "0" "c.3481del" "r.(?)" "p.(Trp1161Glyfs*10)" "" "" "0000864603" "00023950" "30" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "" "0000864604" "00023950" "30" "3318" "0" "3318" "0" "c.3318G>A" "r.(?)" "p.(Leu1106=)" "" "" "0000864605" "00023950" "90" "3296" "-2" "3296" "-2" "c.3296-2A>C" "r.spl?" "p.?" "" "" "0000864606" "00023950" "30" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Glu1061=)" "" "" "0000864607" "00023950" "70" "3148" "0" "3161" "3" "c.3148_3161+3del" "r.spl?" "p.?" "" "" "0000864608" "00023950" "30" "3141" "0" "3141" "0" "c.3141G>A" "r.(?)" "p.(Ser1047=)" "" "" "0000864609" "00023950" "30" "3120" "0" "3120" "0" "c.3120G>T" "r.(?)" "p.(Thr1040=)" "" "" "0000864610" "00023950" "30" "3111" "0" "3111" "0" "c.3111A>G" "r.(?)" "p.(Leu1037=)" "" "" "0000864611" "00023950" "30" "2829" "0" "2829" "0" "c.2829C>G" "r.(?)" "p.(Ala943=)" "" "" "0000864612" "00023950" "30" "2813" "0" "2813" "0" "c.2813C>T" "r.(?)" "p.(Thr938Met)" "" "" "0000864613" "00023950" "30" "2784" "0" "2784" "0" "c.2784G>A" "r.(?)" "p.(Ala928=)" "" "" "0000864614" "00023950" "30" "2670" "0" "2670" "0" "c.2670C>T" "r.(?)" "p.(Asn890=)" "" "" "0000864615" "00023950" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Cys885=)" "" "" "0000864616" "00023950" "90" "2592" "0" "2592" "0" "c.2592del" "r.(?)" "p.(Ser865Valfs*33)" "" "" "0000864617" "00023950" "70" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Leu845Ser)" "" "" "0000864618" "00023950" "10" "2214" "0" "2214" "0" "c.2214C>G" "r.(?)" "p.(Pro738=)" "" "" "0000864619" "00023950" "30" "2199" "0" "2199" "0" "c.2199C>G" "r.(?)" "p.(Pro733=)" "" "" "0000864620" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "" "" "0000864621" "00023950" "50" "2172" "0" "2172" "0" "c.2172C>T" "r.(?)" "p.(Gly724=)" "" "" "0000864622" "00023950" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(His703=)" "" "" "0000864623" "00023950" "90" "2085" "0" "2085" "0" "c.2085dup" "r.(?)" "p.(Ala696Argfs*18)" "" "" "0000864624" "00023950" "50" "2069" "0" "2069" "0" "c.2069T>C" "r.(?)" "p.(Val690Ala)" "" "" "0000864625" "00023950" "90" "2049" "0" "2049" "0" "c.2049G>A" "r.(?)" "p.(Trp683*)" "" "" "0000864626" "00023950" "90" "2015" "0" "2024" "0" "c.2015_2024dup" "r.(?)" "p.(Pro676Alafs*41)" "" "" "0000864627" "00023950" "30" "2007" "0" "2007" "0" "c.2007C>T" "r.(?)" "p.(Cys669=)" "" "" "0000864628" "00023950" "50" "1967" "0" "1967" "0" "c.1967T>A" "r.(?)" "p.(Leu656Gln)" "" "" "0000864629" "00023950" "30" "1849" "20" "1849" "20" "c.1849+20G>T" "r.(=)" "p.(=)" "" "" "0000864630" "00023950" "30" "1849" "28" "1849" "34" "c.1849+28_1849+34del" "r.(=)" "p.(=)" "" "" "0000864631" "00023950" "50" "1849" "6" "1849" "10" "c.1849+6_1849+10del" "r.(=)" "p.(=)" "" "" "0000864632" "00023950" "30" "1723" "-8" "1723" "-8" "c.1723-8C>T" "r.(=)" "p.(=)" "" "" "0000864633" "00023950" "30" "1723" "-9" "1723" "-9" "c.1723-9G>T" "r.(=)" "p.(=)" "" "" "0000864634" "00023950" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(His570=)" "" "" "0000864635" "00023950" "30" "1606" "18" "1606" "18" "c.1606+18C>T" "r.(=)" "p.(=)" "" "" "0000864636" "00023950" "50" "1595" "0" "1595" "0" "c.1595T>G" "r.(?)" "p.(Leu532Arg)" "" "" "0000864637" "00023950" "50" "1594" "0" "1594" "0" "c.1594C>G" "r.(?)" "p.(Leu532Val)" "" "" "0000864638" "00023950" "90" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Gln483*)" "" "" "0000864639" "00023950" "30" "1443" "0" "1443" "0" "c.1443G>C" "r.(?)" "p.(Ala481=)" "" "" "0000864640" "00023950" "70" "1386" "-3" "1386" "-3" "c.1386-3C>G" "r.spl?" "p.?" "" "" "0000864641" "00023950" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Cys)" "" "" "0000864642" "00023950" "70" "1295" "0" "1300" "0" "c.1295_1300del" "r.(?)" "p.(Ala432_Gln433del)" "" "" "0000864643" "00023950" "70" "1286" "0" "1286" "0" "c.1286G>T" "r.(?)" "p.(Trp429Leu)" "" "" "0000864644" "00023950" "50" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Gly415=)" "" "" "0000864645" "00023950" "70" "1202" "-9" "1202" "-9" "c.1202-9G>A" "r.(=)" "p.(=)" "" "" "0000864646" "00023950" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400*)" "" "" "0000864647" "00023950" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ala341=)" "" "" "0000864648" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "" "" "0000864649" "00023950" "90" "802" "0" "802" "0" "c.802del" "r.(?)" "p.(Val268Serfs*22)" "" "" "0000864650" "00023950" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Leu247Phe)" "" "" "0000864651" "00023950" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "" "" "0000864652" "00023950" "50" "665" "0" "665" "0" "c.665C>A" "r.(?)" "p.(Ala222Glu)" "" "" "0000864653" "00023950" "90" "552" "0" "555" "0" "c.552_555del" "r.(?)" "p.(Pro185Thrfs*104)" "" "" "0000864654" "00023950" "30" "529" "10" "529" "10" "c.529+10G>A" "r.(=)" "p.(=)" "" "" "0000864655" "00023950" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Pro170=)" "" "" "0000864656" "00023950" "30" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Gly157Glu)" "" "" "0000864657" "00023950" "30" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Val148=)" "" "" "0000864658" "00023950" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Val147Trpfs*143)" "" "" "0000864659" "00023950" "70" "359" "2" "359" "2" "c.359+2dup" "r.spl?" "p.?" "" "" "0000864660" "00023950" "30" "313" "0" "313" "0" "c.313A>T" "r.(?)" "p.(Thr105Ser)" "" "" "0000864661" "00023950" "90" "303" "0" "305" "0" "c.303_305del" "r.(?)" "p.(Asn101del)" "" "" "0000864662" "00023950" "30" "288" "0" "288" "0" "c.288G>A" "r.(?)" "p.(Leu96=)" "" "" "0000864663" "00023950" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Ala92=)" "" "" "0000864664" "00023950" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "" "0000864665" "00023950" "30" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "" "0000864666" "00023950" "70" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Ser75Pro)" "" "" "0000869054" "00023950" "70" "3477" "0" "3477" "0" "c.3477C>G" "r.(?)" "p.(Tyr1159Ter)" "" "" "0000869102" "00023950" "70" "9241" "0" "9241" "0" "c.9241T>C" "r.(?)" "p.(Cys3081Arg)" "" "" "0000873602" "00023950" "70" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430*)" "" "" "0000879695" "00023950" "70" "11501" "0" "11501" "0" "c.11501T>G" "r.(?)" "p.(Leu3834Arg)" "" "" "0000880103" "00023950" "90" "10167" "25" "10167" "43" "c.10167+25_10167+43del" "r.(?)" "p.(?)" "" "" "0000881212" "00023950" "90" "9201" "1" "9201" "1" "c.9201+1G>A" "r.spl" "p.?" "" "" "0000881329" "00023950" "70" "9986" "0" "9986" "0" "c.9986C>T" "r.(?)" "p.(Ser3329Phe)" "" "" "0000892611" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000892612" "00023950" "90" "54931" "0" "54931" "0" "c.*42019G>A" "r.(=)" "p.(=)" "" "" "0000892613" "00023950" "50" "54800" "0" "54800" "0" "c.*41888T>G" "r.(=)" "p.(=)" "" "" "0000892614" "00023950" "30" "48336" "0" "48336" "0" "c.*35424C>T" "r.(=)" "p.(=)" "" "" "0000892615" "00023950" "30" "47117" "0" "47117" "0" "c.*34205T>C" "r.(=)" "p.(=)" "" "" "0000892616" "00023950" "30" "40745" "0" "40745" "0" "c.*27833C>T" "r.(=)" "p.(=)" "" "" "0000892618" "00023950" "90" "38252" "0" "38253" "0" "c.*25340_*25341del" "r.(=)" "p.(=)" "" "" "0000892619" "00023950" "30" "32165" "0" "32165" "0" "c.*19253G>C" "r.(=)" "p.(=)" "" "" "0000892620" "00023950" "30" "28403" "0" "28403" "0" "c.*15491G>A" "r.(=)" "p.(=)" "" "" "0000892621" "00023950" "30" "26824" "0" "26824" "0" "c.*13912C>T" "r.(=)" "p.(=)" "" "" "0000892622" "00023950" "50" "26810" "0" "26810" "0" "c.*13898T>G" "r.(=)" "p.(=)" "" "" "0000892623" "00023950" "90" "26497" "0" "26497" "0" "c.*13585C>T" "r.(=)" "p.(=)" "" "" "0000892624" "00023950" "30" "26151" "0" "26151" "0" "c.*13239G>T" "r.(=)" "p.(=)" "" "" "0000892625" "00023950" "50" "23579" "0" "23579" "0" "c.*10667T>A" "r.(=)" "p.(=)" "" "" "0000892626" "00023950" "10" "23552" "0" "23552" "0" "c.*10640C>T" "r.(=)" "p.(=)" "" "" "0000892627" "00023950" "30" "18370" "0" "18370" "0" "c.*5458C>T" "r.(=)" "p.(=)" "" "" "0000892628" "00023950" "30" "18280" "0" "18280" "0" "c.*5368C>T" "r.(=)" "p.(=)" "" "" "0000892629" "00023950" "30" "17389" "0" "17389" "0" "c.*4477C>A" "r.(=)" "p.(=)" "" "" "0000892630" "00023950" "30" "16363" "0" "16363" "0" "c.*3451G>A" "r.(=)" "p.(=)" "" "" "0000892631" "00023950" "70" "15889" "0" "15889" "0" "c.*2977G>A" "r.(=)" "p.(=)" "" "" "0000892632" "00023950" "30" "14554" "0" "14554" "0" "c.*1642G>T" "r.(=)" "p.(=)" "" "" "0000892633" "00023950" "30" "14387" "0" "14387" "0" "c.*1475C>T" "r.(=)" "p.(=)" "" "" "0000892634" "00023950" "50" "14322" "0" "14322" "0" "c.*1410G>A" "r.(=)" "p.(=)" "" "" "0000892635" "00023950" "30" "14141" "0" "14141" "0" "c.*1229G>A" "r.(=)" "p.(=)" "" "" "0000892636" "00023950" "70" "12658" "0" "12669" "0" "c.12658_12669del" "r.(?)" "p.(Glu4220_Leu4223del)" "" "" "0000892637" "00023950" "90" "12522" "0" "12522" "0" "c.12522del" "r.(?)" "p.(Asp4174Glufs*24)" "" "" "0000892638" "00023950" "50" "12494" "0" "12494" "0" "c.12494C>T" "r.(?)" "p.(Ser4165Phe)" "" "" "0000892639" "00023950" "90" "12448" "0" "12448" "0" "c.12448C>T" "r.(?)" "p.(Arg4150Cys)" "" "" "0000892640" "00023950" "50" "12408" "0" "12408" "0" "c.12408G>C" "r.(?)" "p.(Arg4136Ser)" "" "" "0000892641" "00023950" "90" "12271" "0" "12272" "0" "c.12271_12272del" "r.(?)" "p.(Trp4091Glyfs*65)" "" "" "0000892642" "00023950" "90" "12267" "0" "12267" "0" "c.12267del" "r.(?)" "p.(Leu4090Serfs*108)" "" "" "0000892643" "00023950" "30" "12198" "0" "12198" "0" "c.12198C>T" "r.(?)" "p.(Cys4066=)" "" "" "0000892644" "00023950" "30" "12162" "0" "12162" "0" "c.12162C>T" "r.(?)" "p.(Ser4054=)" "" "" "0000892645" "00023950" "30" "12138" "17" "12138" "17" "c.12138+17C>T" "r.(=)" "p.(=)" "" "" "0000892646" "00023950" "90" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004*)" "" "" "0000892647" "00023950" "10" "11961" "0" "11961" "0" "c.11961C>T" "r.(?)" "p.(Ala3987=)" "" "" "0000892648" "00023950" "90" "11939" "0" "11939" "0" "c.11939dup" "r.(?)" "p.(Ala3981Glyfs*176)" "" "" "0000892649" "00023950" "30" "11916" "0" "11916" "0" "c.11916C>G" "r.(?)" "p.(Arg3972=)" "" "" "0000892650" "00023950" "30" "11870" "0" "11870" "0" "c.11870G>A" "r.(?)" "p.(Gly3957Asp)" "" "" "0000892651" "00023950" "90" "11773" "0" "11773" "0" "c.11773G>T" "r.(?)" "p.(Glu3925*)" "" "" "0000892652" "00023950" "30" "11691" "0" "11691" "0" "c.11691C>T" "r.(?)" "p.(Leu3897=)" "" "" "0000892653" "00023950" "30" "11604" "0" "11604" "0" "c.11604G>T" "r.(?)" "p.(Thr3868=)" "" "" "0000892654" "00023950" "10" "11523" "0" "11523" "0" "c.11523C>T" "r.(?)" "p.(Asn3841=)" "" "" "0000892655" "00023950" "30" "11411" "18" "11411" "18" "c.11411+18C>T" "r.(=)" "p.(=)" "" "" "0000892656" "00023950" "90" "11354" "0" "11354" "0" "c.11354G>T" "r.(?)" "p.(Trp3785Leu)" "" "" "0000892657" "00023950" "90" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "" "" "0000892658" "00023950" "70" "11156" "0" "11156" "0" "c.11156G>T" "r.(?)" "p.(Arg3719Leu)" "" "" "0000892659" "00023950" "50" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "" "" "0000892660" "00023950" "30" "10950" "0" "10950" "0" "c.10950C>T" "r.(?)" "p.(His3650=)" "" "" "0000892661" "00023950" "30" "10678" "0" "10678" "0" "c.10678G>A" "r.(?)" "p.(Gly3560Arg)" "" "" "0000892662" "00023950" "30" "10531" "0" "10531" "0" "c.10531C>G" "r.(?)" "p.(Leu3511Val)" "" "" "0000892663" "00023950" "90" "10462" "0" "10462" "0" "c.10462C>T" "r.(?)" "p.(Gln3488*)" "" "" "0000892664" "00023950" "30" "10434" "0" "10434" "0" "c.10434C>T" "r.(?)" "p.(Ala3478=)" "" "" "0000892665" "00023950" "50" "10407" "0" "10407" "0" "c.10407T>A" "r.(?)" "p.(Asp3469Glu)" "" "" "0000892666" "00023950" "70" "10405" "0" "10405" "0" "c.10405G>T" "r.(?)" "p.(Asp3469Tyr)" "" "" "0000892667" "00023950" "90" "10183" "0" "10183" "0" "c.10183C>T" "r.(?)" "p.(Gln3395*)" "" "" "0000892668" "00023950" "30" "10080" "0" "10080" "0" "c.10080C>T" "r.(?)" "p.(Ala3360=)" "" "" "0000892669" "00023950" "70" "10050" "1" "10050" "1" "c.10050+1G>A" "r.spl?" "p.?" "" "" "0000892670" "00023950" "50" "9970" "0" "9970" "0" "c.9970G>T" "r.(?)" "p.(Ala3324Ser)" "" "" "0000892671" "00023950" "50" "9920" "0" "9920" "0" "c.9920A>G" "r.(?)" "p.(Tyr3307Cys)" "" "" "0000892672" "00023950" "50" "9884" "0" "9884" "0" "c.9884A>G" "r.(?)" "p.(Asn3295Ser)" "" "" "0000892673" "00023950" "50" "9668" "0" "9668" "0" "c.9668C>T" "r.(?)" "p.(Thr3223Met)" "" "" "0000892674" "00023950" "50" "9611" "0" "9611" "0" "c.9611A>G" "r.(?)" "p.(Asp3204Gly)" "" "" "0000892675" "00023950" "30" "9603" "0" "9603" "0" "c.9603C>T" "r.(?)" "p.(Ile3201=)" "" "" "0000892676" "00023950" "90" "9592" "0" "9592" "0" "c.9592C>T" "r.(?)" "p.(Gln3198*)" "" "" "0000892677" "00023950" "50" "9560" "0" "9560" "0" "c.9560A>G" "r.(?)" "p.(Asp3187Gly)" "" "" "0000892678" "00023950" "50" "9505" "0" "9505" "0" "c.9505C>T" "r.(?)" "p.(Arg3169Trp)" "" "" "0000892679" "00023950" "30" "9397" "15" "9397" "15" "c.9397+15G>A" "r.(=)" "p.(=)" "" "" "0000892680" "00023950" "50" "9370" "0" "9372" "0" "c.9370_9372del" "r.(?)" "p.(Val3124del)" "" "" "0000892681" "00023950" "50" "9191" "0" "9191" "0" "c.9191T>C" "r.(?)" "p.(Phe3064Ser)" "" "" "0000892682" "00023950" "30" "9156" "0" "9156" "0" "c.9156C>T" "r.(?)" "p.(Gly3052=)" "" "" "0000892683" "00023950" "30" "9156" "0" "9156" "0" "c.9156C>T" "r.(?)" "p.(Gly3052=)" "" "" "0000892684" "00023950" "50" "9146" "0" "9146" "0" "c.9146C>T" "r.(?)" "p.(Thr3049Ile)" "" "" "0000892685" "00023950" "50" "8948" "28" "8948" "28" "c.8948+28G>T" "r.(=)" "p.(=)" "" "" "0000892686" "00023950" "10" "8898" "0" "8898" "0" "c.8898G>C" "r.(?)" "p.(Glu2966Asp)" "" "" "0000892687" "00023950" "30" "8792" "-14" "8792" "-14" "c.8792-14G>A" "r.(=)" "p.(=)" "" "" "0000892688" "00023950" "90" "8780" "0" "8781" "0" "c.8780_8781insA" "r.(?)" "p.(Leu2928Alafs*9)" "" "" "0000892689" "00023950" "50" "8776" "0" "8776" "0" "c.8776T>A" "r.(?)" "p.(Tyr2926Asn)" "" "" "0000892690" "00023950" "30" "8679" "0" "8679" "0" "c.8679C>G" "r.(?)" "p.(Ser2893=)" "" "" "0000892691" "00023950" "30" "8663" "0" "8663" "0" "c.8663G>A" "r.(?)" "p.(Arg2888His)" "" "" "0000892692" "00023950" "10" "8644" "0" "8644" "0" "c.8644T>A" "r.(?)" "p.(Trp2882Arg)" "" "" "0000892693" "00023950" "30" "8344" "0" "8344" "0" "c.8344G>A" "r.(?)" "p.(Val2782Met)" "" "" "0000892694" "00023950" "30" "8298" "0" "8298" "0" "c.8298C>T" "r.(?)" "p.(Ser2766=)" "" "" "0000892695" "00023950" "50" "8267" "0" "8267" "0" "c.8267C>T" "r.(?)" "p.(Thr2756Ile)" "" "" "0000892696" "00023950" "10" "8187" "0" "8187" "0" "c.8187G>A" "r.(?)" "p.(Ser2729=)" "" "" "0000892697" "00023950" "30" "8186" "0" "8186" "0" "c.8186C>T" "r.(?)" "p.(Ser2729Leu)" "" "" "0000892698" "00023950" "50" "8137" "0" "8137" "0" "c.8137G>A" "r.(?)" "p.(Gly2713Arg)" "" "" "0000892699" "00023950" "30" "8124" "0" "8124" "0" "c.8124G>A" "r.(?)" "p.(Thr2708=)" "" "" "0000892700" "00023950" "10" "8119" "0" "8119" "0" "c.8119G>A" "r.(?)" "p.(Val2707Met)" "" "" "0000892701" "00023950" "50" "8087" "0" "8087" "0" "c.8087T>G" "r.(?)" "p.(Leu2696Arg)" "" "" "0000892702" "00023950" "30" "8016" "12" "8016" "12" "c.8016+12C>G" "r.(=)" "p.(=)" "" "" "0000892703" "00023950" "90" "7949" "0" "7950" "0" "c.7949_7950del" "r.(?)" "p.(Leu2650Argfs*10)" "" "" "0000892704" "00023950" "90" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639*)" "" "" "0000892705" "00023950" "30" "7859" "0" "7859" "0" "c.7859A>G" "r.(?)" "p.(Asn2620Ser)" "" "" "0000892706" "00023950" "90" "7816" "0" "7816" "0" "c.7816C>T" "r.(?)" "p.(Gln2606*)" "" "" "0000892707" "00023950" "30" "7683" "0" "7683" "0" "c.7683C>T" "r.(?)" "p.(Ala2561=)" "" "" "0000892708" "00023950" "90" "7666" "0" "7666" "0" "c.7666C>T" "r.(?)" "p.(Gln2556*)" "" "" "0000892709" "00023950" "50" "7622" "0" "7622" "0" "c.7622C>T" "r.(?)" "p.(Pro2541Leu)" "" "" "0000892710" "00023950" "30" "7430" "0" "7430" "0" "c.7430G>A" "r.(?)" "p.(Arg2477His)" "" "" "0000892711" "00023950" "90" "7421" "0" "7421" "0" "c.7421del" "r.(?)" "p.(Gly2474Alafs*146)" "" "" "0000892712" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430*)" "" "" "0000892713" "00023950" "30" "7275" "0" "7275" "0" "c.7275C>T" "r.(?)" "p.(Gly2425=)" "" "" "0000892714" "00023950" "90" "7209" "1" "7209" "1" "c.7209+1G>A" "r.spl?" "p.?" "" "" "0000892715" "00023950" "30" "7066" "-5" "7066" "-5" "c.7066-5G>A" "r.spl?" "p.?" "" "" "0000892716" "00023950" "30" "7066" "-6" "7066" "-6" "c.7066-6C>T" "r.(=)" "p.(=)" "" "" "0000892717" "00023950" "30" "7065" "20" "7065" "20" "c.7065+20C>T" "r.(=)" "p.(=)" "" "" "0000892718" "00023950" "30" "6979" "0" "6979" "0" "c.6979C>T" "r.(?)" "p.(Arg2327Trp)" "" "" "0000892719" "00023950" "90" "6915" "1" "6915" "1" "c.6915+1G>A" "r.spl?" "p.?" "" "" "0000892720" "00023950" "90" "6913" "0" "6913" "0" "c.6913C>T" "r.(?)" "p.(Gln2305*)" "" "" "0000892721" "00023950" "30" "6864" "0" "6864" "0" "c.6864C>T" "r.(?)" "p.(Asp2288=)" "" "" "0000892722" "00023950" "50" "6815" "0" "6815" "0" "c.6815G>A" "r.(?)" "p.(Arg2272Gln)" "" "" "0000892723" "00023950" "30" "6744" "0" "6744" "0" "c.6744T>C" "r.(?)" "p.(Asn2248=)" "" "" "0000892724" "00023950" "50" "6739" "0" "6739" "0" "c.6739G>A" "r.(?)" "p.(Ala2247Thr)" "" "" "0000892725" "00023950" "90" "6727" "0" "6728" "0" "c.6727_6728del" "r.(?)" "p.(Gln2243Glufs*18)" "" "" "0000892726" "00023950" "50" "6707" "0" "6707" "0" "c.6707T>G" "r.(?)" "p.(Phe2236Cys)" "" "" "0000892727" "00023950" "50" "6658" "0" "6658" "0" "c.6658C>G" "r.(?)" "p.(Arg2220Gly)" "" "" "0000892728" "00023950" "50" "6620" "0" "6620" "0" "c.6620C>T" "r.(?)" "p.(Pro2207Leu)" "" "" "0000892729" "00023950" "10" "6545" "0" "6545" "0" "c.6545A>G" "r.(?)" "p.(Gln2182Arg)" "" "" "0000892730" "00023950" "30" "6545" "0" "6545" "0" "c.6545A>G" "r.(?)" "p.(Gln2182Arg)" "" "" "0000892731" "00023950" "90" "6487" "0" "6487" "0" "c.6487C>T" "r.(?)" "p.(Arg2163*)" "" "" "0000892732" "00023950" "90" "6102" "0" "6102" "0" "c.6102dup" "r.(?)" "p.(Leu2035Alafs*15)" "" "" "0000892733" "00023950" "90" "6016" "0" "6016" "0" "c.6016del" "r.(?)" "p.(Trp2006Glyfs*110)" "" "" "0000892734" "00023950" "90" "5756" "0" "5756" "0" "c.5756dup" "r.(?)" "p.(Arg1920Profs*70)" "" "" "0000892735" "00023950" "50" "5704" "0" "5704" "0" "c.5704G>A" "r.(?)" "p.(Gly1902Arg)" "" "" "0000892736" "00023950" "30" "5577" "0" "5577" "0" "c.5577T>C" "r.(?)" "p.(Ala1859=)" "" "" "0000892737" "00023950" "10" "5373" "0" "5373" "0" "c.5373C>T" "r.(?)" "p.(Asn1791=)" "" "" "0000892738" "00023950" "30" "5307" "0" "5307" "0" "c.5307T>C" "r.(?)" "p.(His1769=)" "" "" "0000892739" "00023950" "30" "5070" "0" "5070" "0" "c.5070C>T" "r.(?)" "p.(Ala1690=)" "" "" "0000892740" "00023950" "90" "5065" "0" "5065" "0" "c.5065G>T" "r.(?)" "p.(Glu1689*)" "" "" "0000892741" "00023950" "30" "5051" "0" "5051" "0" "c.5051C>T" "r.(?)" "p.(Ser1684Leu)" "" "" "0000892742" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672Glyfs*98)" "" "" "0000892743" "00023950" "30" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Gly1639=)" "" "" "0000892744" "00023950" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ile1624=)" "" "" "0000892745" "00023950" "90" "4861" "0" "4861" "0" "c.4861C>T" "r.(?)" "p.(Gln1621*)" "" "" "0000892746" "00023950" "30" "4809" "0" "4809" "0" "c.4809C>T" "r.(?)" "p.(Ser1603=)" "" "" "0000892747" "00023950" "30" "4263" "0" "4263" "0" "c.4263C>T" "r.(?)" "p.(Ala1421=)" "" "" "0000892748" "00023950" "90" "4241" "0" "4241" "0" "c.4241G>A" "r.(?)" "p.(Trp1414*)" "" "" "0000892749" "00023950" "90" "4070" "0" "4070" "0" "c.4070del" "r.(?)" "p.(Leu1357Argfs*9)" "" "" "0000892750" "00023950" "30" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Ser1352Asn)" "" "" "0000892751" "00023950" "90" "4009" "0" "4010" "0" "c.4009_4010del" "r.(?)" "p.(Thr1337Aspfs*93)" "" "" "0000892752" "00023950" "10" "3935" "0" "3935" "0" "c.3935G>A" "r.(?)" "p.(Arg1312Gln)" "" "" "0000892753" "00023950" "30" "3853" "0" "3853" "0" "c.3853C>T" "r.(?)" "p.(Arg1285Trp)" "" "" "0000892754" "00023950" "30" "3726" "0" "3726" "0" "c.3726G>A" "r.(?)" "p.(Thr1242=)" "" "" "0000892755" "00023950" "30" "3679" "0" "3679" "0" "c.3679G>T" "r.(?)" "p.(Ala1227Ser)" "" "" "0000892756" "00023950" "30" "3618" "0" "3618" "0" "c.3618G>A" "r.(?)" "p.(Val1206=)" "" "" "0000892757" "00023950" "10" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Pro1168Ser)" "" "" "0000892758" "00023950" "30" "3489" "0" "3489" "0" "c.3489C>T" "r.(?)" "p.(Phe1163=)" "" "" "0000892759" "00023950" "30" "3424" "0" "3424" "0" "c.3424C>T" "r.(?)" "p.(Arg1142Trp)" "" "" "0000892760" "00023950" "30" "3360" "0" "3360" "0" "c.3360G>T" "r.(?)" "p.(Val1120=)" "" "" "0000892761" "00023950" "50" "3329" "0" "3329" "0" "c.3329C>T" "r.(?)" "p.(Ala1110Val)" "" "" "0000892762" "00023950" "30" "3277" "0" "3277" "0" "c.3277C>T" "r.(?)" "p.(His1093Tyr)" "" "" "0000892763" "00023950" "30" "3228" "0" "3228" "0" "c.3228G>A" "r.(?)" "p.(Pro1076=)" "" "" "0000892764" "00023950" "30" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Glu1061=)" "" "" "0000892765" "00023950" "90" "3161" "1" "3161" "1" "c.3161+1G>C" "r.spl?" "p.?" "" "" "0000892766" "00023950" "90" "2986" "-2" "2986" "-2" "c.2986-2A>G" "r.spl?" "p.?" "" "" "0000892767" "00023950" "90" "2716" "0" "2716" "0" "c.2716dup" "r.(?)" "p.(Glu906Glyfs*195)" "" "" "0000892768" "00023950" "90" "2627" "0" "2631" "0" "c.2627_2631dup" "r.(?)" "p.(Val878Profs*22)" "" "" "0000892769" "00023950" "30" "2322" "0" "2322" "0" "c.2322C>T" "r.(?)" "p.(Ala774=)" "" "" "0000892770" "00023950" "90" "2222" "0" "2222" "0" "c.2222del" "r.(?)" "p.(Pro741Argfs*44)" "" "" "0000892771" "00023950" "30" "2193" "0" "2193" "0" "c.2193G>T" "r.(?)" "p.(Pro731=)" "" "" "0000892772" "00023950" "30" "2160" "0" "2160" "0" "c.2160C>T" "r.(?)" "p.(Asp720=)" "" "" "0000892773" "00023950" "50" "2102" "0" "2102" "0" "c.2102C>T" "r.(?)" "p.(Thr701Ile)" "" "" "0000892774" "00023950" "30" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Ala696Thr)" "" "" "0000892775" "00023950" "30" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Ala678Thr)" "" "" "0000892776" "00023950" "30" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "" "0000892777" "00023950" "30" "1607" "-11" "1607" "-11" "c.1607-11C>T" "r.(=)" "p.(=)" "" "" "0000892778" "00023950" "30" "1572" "0" "1572" "0" "c.1572G>A" "r.(?)" "p.(Ala524=)" "" "" "0000892779" "00023950" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Gly441=)" "" "" "0000892780" "00023950" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "" "" "0000892781" "00023950" "90" "1085" "0" "1098" "0" "c.1085_1098del" "r.(?)" "p.(Val362Glyfs*4)" "" "" "0000892782" "00023950" "50" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Val336Met)" "" "" "0000892783" "00023950" "30" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(His332=)" "" "" "0000892784" "00023950" "30" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "" "0000892785" "00023950" "50" "890" "0" "890" "0" "c.890C>G" "r.(?)" "p.(Pro297Arg)" "" "" "0000892786" "00023950" "30" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Cys259Tyr)" "" "" "0000892787" "00023950" "30" "723" "0" "725" "0" "c.723_725del" "r.(?)" "p.(Phe242del)" "" "" "0000892788" "00023950" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(His201=)" "" "" "0000892789" "00023950" "30" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Ser196=)" "" "" "0000892790" "00023950" "90" "552" "0" "555" "0" "c.552_555dup" "r.(?)" "p.(Asp186Profs*2)" "" "" "0000892791" "00023950" "50" "375" "0" "375" "0" "c.375C>A" "r.(?)" "p.(Asn125Lys)" "" "" "0000892794" "00023950" "90" "348" "0" "352" "0" "c.348_352del" "r.(?)" "p.(Asn116Lysfs*2)" "" "" "0000892795" "00023950" "30" "342" "0" "342" "0" "c.342A>G" "r.(?)" "p.(Leu114=)" "" "" "0000892796" "00023950" "90" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Asn101Asp)" "" "" "0000892797" "00023950" "30" "288" "-7" "288" "-7" "c.288-7C>T" "r.(=)" "p.(=)" "" "" "0000892798" "00023950" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "" "0000892801" "00023950" "30" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "" "0000905187" "00023950" "30" "12176" "0" "12176" "0" "c.12176C>T" "r.(?)" "p.(Ala4059Val)" "" "" "0000905188" "00023950" "90" "12141" "0" "12144" "0" "c.12141_12144delinsTCTTCCCCGCAGTCTTCCCCGCA" "r.(?)" "p.(Val4048Leufs*115)" "45" "" "0000908892" "00023950" "50" "3161" "5" "3161" "5" "c.3161+5G>A" "r.2986_3161del" "p.Leu996Valfs*46" "" "" "0000914499" "00023950" "90" "46392" "0" "46396" "0" "c.*33480_*33484del" "r.(=)" "p.(=)" "" "" "0000914500" "00023950" "50" "45934" "0" "45934" "0" "c.*33022G>A" "r.(=)" "p.(=)" "" "" "0000914501" "00023950" "30" "30770" "0" "30770" "0" "c.*17858C>T" "r.(=)" "p.(=)" "" "" "0000914502" "00023950" "50" "23053" "0" "23053" "0" "c.*10141G>A" "r.(=)" "p.(=)" "" "" "0000914503" "00023950" "30" "12492" "0" "12492" "0" "c.12492C>T" "r.(?)" "p.(Arg4164=)" "" "" "0000914504" "00023950" "30" "12460" "0" "12460" "0" "c.12460C>T" "r.(?)" "p.(Arg4154Cys)" "" "" "0000914505" "00023950" "90" "12340" "0" "12340" "0" "c.12340del" "r.(?)" "p.(Arg4114Valfs*84)" "" "" "0000914506" "00023950" "30" "12139" "-10" "12139" "-10" "c.12139-10T>C" "r.(=)" "p.(=)" "" "" "0000914507" "00023950" "30" "12139" "-12" "12139" "-12" "c.12139-12C>T" "r.(=)" "p.(=)" "" "" "0000914508" "00023950" "30" "11976" "0" "11976" "0" "c.11976C>T" "r.(?)" "p.(Ala3992=)" "" "" "0000914509" "00023950" "30" "11713" "-9" "11713" "-9" "c.11713-9C>A" "r.(=)" "p.(=)" "" "" "0000914510" "00023950" "30" "10619" "-13" "10619" "-13" "c.10619-13del" "r.(=)" "p.(=)" "" "" "0000914511" "00023950" "90" "10585" "0" "10585" "0" "c.10585G>T" "r.(?)" "p.(Glu3529*)" "" "" "0000914512" "00023950" "30" "10351" "0" "10351" "0" "c.10351G>A" "r.(?)" "p.(Asp3451Asn)" "" "" "0000914513" "00023950" "50" "10315" "0" "10315" "0" "c.10315C>T" "r.(?)" "p.(Arg3439Trp)" "" "" "0000914514" "00023950" "70" "9859" "0" "9861" "0" "c.9859_9861del" "r.(?)" "p.(Leu3287del)" "" "" "0000914515" "00023950" "30" "9717" "0" "9717" "0" "c.9717C>T" "r.(?)" "p.(Asp3239=)" "" "" "0000914516" "00023950" "70" "9409" "0" "9409" "0" "c.9409C>T" "r.(?)" "p.(His3137Tyr)" "" "" "0000914517" "00023950" "50" "9371" "0" "9371" "0" "c.9371T>G" "r.(?)" "p.(Val3124Gly)" "" "" "0000914518" "00023950" "50" "9370" "0" "9370" "0" "c.9370G>A" "r.(?)" "p.(Val3124Ile)" "" "" "0000914519" "00023950" "50" "9314" "0" "9328" "0" "c.9314_9328del" "r.(?)" "p.(Arg3105_Ile3109del)" "" "" "0000914520" "00023950" "50" "9277" "0" "9277" "0" "c.9277G>A" "r.(?)" "p.(Ala3093Thr)" "" "" "0000914521" "00023950" "30" "9204" "0" "9204" "0" "c.9204G>C" "r.(?)" "p.(Glu3068Asp)" "" "" "0000914522" "00023950" "30" "8948" "12" "8948" "12" "c.8948+12G>A" "r.(=)" "p.(=)" "" "" "0000914523" "00023950" "30" "8680" "0" "8680" "0" "c.8680G>A" "r.(?)" "p.(Ala2894Thr)" "" "" "0000914524" "00023950" "30" "8640" "0" "8640" "0" "c.8640G>A" "r.(?)" "p.(Ser2880=)" "" "" "0000914525" "00023950" "30" "8403" "0" "8403" "0" "c.8403G>A" "r.(?)" "p.(Gly2801=)" "" "" "0000914526" "00023950" "30" "8162" "-18" "8162" "-18" "c.8162-18C>T" "r.(=)" "p.(=)" "" "" "0000914527" "00023950" "30" "8111" "0" "8111" "0" "c.8111C>T" "r.(?)" "p.(Ala2704Val)" "" "" "0000914528" "00023950" "90" "8041" "0" "8041" "0" "c.8041C>T" "r.(?)" "p.(Arg2681Cys)" "" "" "0000914529" "00023950" "30" "7809" "0" "7809" "0" "c.7809C>T" "r.(?)" "p.(Ala2603=)" "" "" "0000914530" "00023950" "30" "7531" "0" "7531" "0" "c.7531G>A" "r.(?)" "p.(Ala2511Thr)" "" "" "0000914531" "00023950" "50" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "" "" "0000914532" "00023950" "70" "7244" "0" "7244" "0" "c.7244T>G" "r.(?)" "p.(Leu2415Arg)" "" "" "0000914533" "00023950" "30" "6965" "0" "6965" "0" "c.6965C>T" "r.(?)" "p.(Thr2322Met)" "" "" "0000914534" "00023950" "70" "6797" "0" "6797" "0" "c.6797G>C" "r.(?)" "p.(Arg2266Pro)" "" "" "0000914535" "00023950" "90" "6778" "0" "6780" "0" "c.6778_6780del" "r.(?)" "p.(Ile2260del)" "" "" "0000914536" "00023950" "30" "6749" "0" "6749" "0" "c.6749C>T" "r.(?)" "p.(Thr2250Met)" "" "" "0000914537" "00023950" "90" "6730" "0" "6731" "0" "c.6730_6731del" "r.(?)" "p.(Ser2244Hisfs*17)" "" "" "0000914538" "00023950" "30" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Ala2205Val)" "" "" "0000914539" "00023950" "50" "6541" "0" "6541" "0" "c.6541T>A" "r.(?)" "p.(Tyr2181Asn)" "" "" "0000914540" "00023950" "30" "6395" "0" "6395" "0" "c.6395T>G" "r.(?)" "p.(Phe2132Cys)" "" "" "0000914541" "00023950" "70" "5995" "0" "5995" "0" "c.5995G>A" "r.(?)" "p.(Gly1999Ser)" "" "" "0000914542" "00023950" "50" "5645" "0" "5645" "0" "c.5645C>T" "r.(?)" "p.(Thr1882Met)" "" "" "0000914543" "00023950" "50" "5212" "0" "5212" "0" "c.5212C>G" "r.(?)" "p.(Leu1738Val)" "" "" "0000914544" "00023950" "30" "4809" "0" "4809" "0" "c.4809C>T" "r.(?)" "p.(Ser1603=)" "" "" "0000914545" "00023950" "50" "4745" "0" "4745" "0" "c.4745G>C" "r.(?)" "p.(Trp1582Ser)" "" "" "0000914546" "00023950" "50" "4160" "0" "4160" "0" "c.4160C>T" "r.(?)" "p.(Pro1387Leu)" "" "" "0000914547" "00023950" "10" "4071" "0" "4071" "0" "c.4071G>T" "r.(?)" "p.(Leu1357=)" "" "" "0000914548" "00023950" "30" "3935" "0" "3935" "0" "c.3935G>A" "r.(?)" "p.(Arg1312Gln)" "" "" "0000914549" "00023950" "30" "3380" "0" "3380" "0" "c.3380C>T" "r.(?)" "p.(Pro1127Leu)" "" "" "0000914550" "00023950" "30" "3256" "0" "3256" "0" "c.3256C>G" "r.(?)" "p.(Leu1086Val)" "" "" "0000914551" "00023950" "30" "3162" "-10" "3162" "-10" "c.3162-10G>A" "r.(=)" "p.(=)" "" "" "0000914552" "00023950" "50" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Gly960Ser)" "" "" "0000914553" "00023950" "30" "2591" "0" "2591" "0" "c.2591G>A" "r.(?)" "p.(Gly864Asp)" "" "" "0000914554" "00023950" "90" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "" "" "0000914555" "00023950" "30" "2160" "0" "2160" "0" "c.2160C>T" "r.(?)" "p.(Asp720=)" "" "" "0000914556" "00023950" "50" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Ala696Val)" "" "" "0000914557" "00023950" "50" "1992" "0" "1992" "0" "c.1992C>G" "r.(?)" "p.(Ala664=)" "" "" "0000914558" "00023950" "50" "640" "0" "640" "0" "c.640T>A" "r.(?)" "p.(Cys214Ser)" "" "" "0000914559" "00023950" "70" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Cys210Tyr)" "" "" "0000914560" "00023950" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Val147Trpfs*143)" "" "" "0000921197" "00023950" "90" "618" "0" "618" "0" "c.618dup" "r.(?)" "p.(Pro207AlafsTer54)" "" "" "0000922075" "00023950" "90" "6559" "0" "6578" "0" "c.6559_6578dup" "r.(?)" "p.(Ser2194Glyfs*25)" "" "" "0000922205" "00023950" "50" "9499" "0" "9499" "0" "c.9499A>T" "r.(?)" "p.(Ile3167Phe)" "" "" "0000926163" "00023950" "90" "54931" "0" "54931" "0" "c.*42019G>A" "r.(=)" "p.(=)" "" "" "0000926164" "00023950" "30" "49248" "0" "49248" "0" "c.*36336T>A" "r.(=)" "p.(=)" "" "" "0000926165" "00023950" "30" "38234" "0" "38234" "0" "c.*25322C>G" "r.(=)" "p.(=)" "" "" "0000926166" "00023950" "50" "32140" "0" "32140" "0" "c.*19228T>C" "r.(=)" "p.(=)" "" "" "0000926167" "00023950" "30" "30829" "0" "30829" "0" "c.*17917T>G" "r.(=)" "p.(=)" "" "" "0000926168" "00023950" "50" "29727" "0" "29727" "0" "c.*16815A>T" "r.(=)" "p.(=)" "" "" "0000926170" "00023950" "30" "25045" "0" "25045" "0" "c.*12133T>C" "r.(=)" "p.(=)" "" "" "0000926171" "00023950" "50" "18149" "0" "18172" "0" "c.*5237_*5260del" "r.(=)" "p.(=)" "" "" "0000926172" "00023950" "10" "14421" "0" "14421" "0" "c.*1509G>A" "r.(=)" "p.(=)" "" "" "0000926173" "00023950" "30" "12900" "0" "12900" "0" "c.12900C>T" "r.(?)" "p.(Pro4300=)" "" "" "0000926174" "00023950" "50" "12641" "0" "12641" "0" "c.12641G>A" "r.(?)" "p.(Arg4214His)" "" "" "0000926175" "00023950" "30" "12298" "0" "12298" "0" "c.12298C>A" "r.(?)" "p.(Arg4100=)" "" "" "0000926176" "00023950" "30" "12270" "0" "12270" "0" "c.12270C>G" "r.(?)" "p.(Leu4090=)" "" "" "0000926177" "00023950" "50" "12218" "0" "12218" "0" "c.12218C>T" "r.(?)" "p.(Thr4073Ile)" "" "" "0000926178" "00023950" "90" "12124" "0" "12124" "0" "c.12124C>T" "r.(?)" "p.(Gln4042*)" "" "" "0000926179" "00023950" "90" "12013" "0" "12013" "0" "c.12013C>T" "r.(?)" "p.(Gln4005*)" "" "" "0000926180" "00023950" "70" "12004" "-2" "12004" "-2" "c.12004-2A>T" "r.spl?" "p.?" "" "" "0000926181" "00023950" "50" "10925" "0" "10925" "0" "c.10925G>C" "r.(?)" "p.(Arg3642Pro)" "" "" "0000926182" "00023950" "30" "10530" "0" "10530" "0" "c.10530G>A" "r.(?)" "p.(Thr3510=)" "" "" "0000926183" "00023950" "30" "10363" "0" "10363" "0" "c.10363C>T" "r.(?)" "p.(Leu3455=)" "" "" "0000926184" "00023950" "50" "9990" "0" "9990" "0" "c.9990C>A" "r.(?)" "p.(Ser3330Arg)" "" "" "0000926185" "00023950" "30" "9713" "-4" "9713" "-4" "c.9713-4C>T" "r.spl?" "p.?" "" "" "0000926186" "00023950" "30" "8162" "-12" "8162" "-12" "c.8162-12G>A" "r.(=)" "p.(=)" "" "" "0000926187" "00023950" "30" "8161" "19" "8161" "19" "c.8161+19C>T" "r.(=)" "p.(=)" "" "" "0000926188" "00023950" "90" "8013" "0" "8013" "0" "c.8013C>A" "r.(?)" "p.(Cys2671*)" "" "" "0000926189" "00023950" "30" "7937" "0" "7937" "0" "c.7937T>C" "r.(?)" "p.(Ile2646Thr)" "" "" "0000926190" "00023950" "30" "7463" "0" "7463" "0" "c.7463C>T" "r.(?)" "p.(Thr2488Ile)" "" "" "0000926191" "00023950" "30" "6439" "0" "6439" "0" "c.6439C>T" "r.(?)" "p.(Arg2147Trp)" "" "" "0000926192" "00023950" "90" "6061" "0" "6061" "0" "c.6061del" "r.(?)" "p.(Leu2021Cysfs*95)" "" "" "0000926193" "00023950" "70" "5995" "0" "5995" "0" "c.5995G>A" "r.(?)" "p.(Gly1999Ser)" "" "" "0000926194" "00023950" "90" "5923" "0" "5923" "0" "c.5923C>T" "r.(?)" "p.(Gln1975*)" "" "" "0000926195" "00023950" "50" "5758" "0" "5758" "0" "c.5758C>G" "r.(?)" "p.(Arg1920Gly)" "" "" "0000926196" "00023950" "70" "4828" "0" "4830" "0" "c.4828_4830del" "r.(?)" "p.(Ile1610del)" "" "" "0000926197" "00023950" "90" "3483" "0" "3483" "0" "c.3483G>A" "r.(?)" "p.(Trp1161*)" "" "" "0000926198" "00023950" "30" "3006" "0" "3006" "0" "c.3006G>C" "r.(?)" "p.(Val1002=)" "" "" "0000926199" "00023950" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Cys885=)" "" "" "0000926200" "00023950" "50" "2500" "0" "2500" "0" "c.2500G>A" "r.(?)" "p.(Gly834Ser)" "" "" "0000926201" "00023950" "50" "303" "0" "303" "0" "c.303C>G" "r.(?)" "p.(Asn101Lys)" "" "" "0000926202" "00023950" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Ala92=)" "" "" "0000926203" "00023950" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "" "0000927520" "00023950" "70" "8017" "-3" "8017" "-3" "c.8017-3C>G" "r.(?)" "p.(?)" "" "" "0000927611" "00023950" "70" "335" "0" "335" "0" "c.335C>G" "r.(?)" "p.(Ala112Gly)" "" "" "0000930526" "00023950" "30" "32055" "0" "32055" "0" "c.*19143C>T" "r.(=)" "p.(=)" "" "" "0000930527" "00023950" "10" "29772" "0" "29772" "0" "c.*16860G>A" "r.(=)" "p.(=)" "" "" "0000930528" "00023950" "10" "23595" "0" "23595" "0" "c.*10683C>T" "r.(=)" "p.(=)" "" "" "0000930529" "00023950" "30" "17380" "0" "17380" "0" "c.*4468G>A" "r.(=)" "p.(=)" "" "" "0000930530" "00023950" "30" "12555" "0" "12555" "0" "c.12555G>C" "r.(?)" "p.(=)" "" "" "0000930531" "00023950" "10" "12276" "0" "12276" "0" "c.12276A>G" "r.(?)" "p.(Ala4092=)" "" "" "0000930533" "00023950" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Gln3982*)" "" "" "0000930534" "00023950" "30" "11616" "0" "11616" "0" "c.11616G>A" "r.(?)" "p.(=)" "" "" "0000930535" "00023950" "30" "11523" "0" "11523" "0" "c.11523C>T" "r.(?)" "p.(Asn3841=)" "" "" "0000930536" "00023950" "30" "11356" "0" "11356" "0" "c.11356G>C" "r.(?)" "p.(Glu3786Gln)" "" "" "0000930537" "00023950" "50" "10970" "0" "10970" "0" "c.10970C>T" "r.(?)" "p.(Ala3657Val)" "" "" "0000930539" "00023950" "30" "10240" "0" "10240" "0" "c.10240G>A" "r.(?)" "p.(Gly3414Ser)" "" "" "0000930540" "00023950" "30" "9713" "-20" "9713" "-20" "c.9713-20C>T" "r.(=)" "p.(=)" "" "" "0000930541" "00023950" "30" "9456" "0" "9456" "0" "c.9456G>A" "r.(?)" "p.(=)" "" "" "0000930542" "00023950" "30" "8688" "0" "8688" "0" "c.8688C>T" "r.(?)" "p.(=)" "" "" "0000930543" "00023950" "70" "8354" "0" "8354" "0" "c.8354G>A" "r.(?)" "p.(Gly2785Asp)" "" "" "0000930544" "00023950" "50" "8291" "0" "8291" "0" "c.8291T>C" "r.(?)" "p.(Met2764Thr)" "" "" "0000930545" "00023950" "50" "8287" "0" "8287" "0" "c.8287C>G" "r.(?)" "p.(Leu2763Val)" "" "" "0000930546" "00023950" "50" "8282" "0" "8282" "0" "c.8282G>C" "r.(?)" "p.(Arg2761Pro)" "" "" "0000930547" "00023950" "50" "8279" "0" "8279" "0" "c.8279T>C" "r.(?)" "p.(Met2760Thr)" "" "" "0000930548" "00023950" "30" "7797" "0" "7797" "0" "c.7797G>A" "r.(?)" "p.(=)" "" "" "0000930549" "00023950" "50" "7344" "0" "7344" "0" "c.7344C>G" "r.(?)" "p.(=)" "" "" "0000930550" "00023950" "30" "7124" "0" "7124" "0" "c.7124C>T" "r.(?)" "p.(Ala2375Val)" "" "" "0000930551" "00023950" "50" "7061" "0" "7061" "0" "c.7061A>G" "r.(?)" "p.(Gln2354Arg)" "" "" "0000930552" "00023950" "30" "7059" "0" "7059" "0" "c.7059C>T" "r.(?)" "p.(=)" "" "" "0000930553" "00023950" "30" "6993" "0" "6993" "0" "c.6993G>A" "r.(?)" "p.(=)" "" "" "0000930554" "00023950" "50" "6952" "0" "6952" "0" "c.6952C>T" "r.(?)" "p.(Arg2318Cys)" "" "" "0000930555" "00023950" "30" "5985" "0" "5985" "0" "c.5985C>T" "r.(?)" "p.(Arg1995=)" "" "" "0000930556" "00023950" "30" "5852" "0" "5852" "0" "c.5852G>A" "r.(?)" "p.(Arg1951Gln)" "" "" "0000930557" "00023950" "30" "5363" "0" "5363" "0" "c.5363G>A" "r.(?)" "p.(Gly1788Asp)" "" "" "0000930558" "00023950" "50" "5090" "0" "5090" "0" "c.5090T>C" "r.(?)" "p.(Leu1697Pro)" "" "" "0000930559" "00023950" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ile1624=)" "" "" "0000930561" "00023950" "50" "4388" "0" "4388" "0" "c.4388A>C" "r.(?)" "p.(Gln1463Pro)" "" "" "0000930562" "00023950" "90" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Ter)" "" "" "0000930563" "00023950" "30" "4265" "0" "4265" "0" "c.4265C>A" "r.(?)" "p.(Ala1422Asp)" "" "" "0000930564" "00023950" "30" "4103" "0" "4103" "0" "c.4103C>T" "r.(?)" "p.(Ala1368Val)" "" "" "0000930565" "00023950" "90" "3914" "0" "3923" "0" "c.3914_3923del" "r.(?)" "p.(Ile1305SerfsTer38)" "" "" "0000930566" "00023950" "30" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(=)" "" "" "0000930567" "00023950" "70" "1582" "0" "1582" "0" "c.1582T>G" "r.(?)" "p.(Tyr528Asp)" "" "" "0000930568" "00023950" "50" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Gly382Asp)" "" "" "0000930569" "00023950" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Gly381Cys)" "" "" "0000931623" "00023950" "50" "1634" "0" "1634" "0" "c.1634T>C" "r.(?)" "p.(Leu545Pro)" "" "" "0000950538" "00023950" "90" "56401" "0" "56401" "0" "c.*43489C>T" "r.(=)" "p.(=)" "" "" "0000950539" "00023950" "10" "56256" "0" "56256" "0" "c.*43344C>T" "r.(=)" "p.(=)" "" "" "0000950540" "00023950" "50" "54361" "0" "54361" "0" "c.*41449T>C" "r.(=)" "p.(=)" "" "" "0000950541" "00023950" "10" "54062" "0" "54062" "0" "c.*41150C>G" "r.(=)" "p.(=)" "" "" "0000950542" "00023950" "30" "49272" "0" "49272" "0" "c.*36360G>A" "r.(=)" "p.(=)" "" "" "0000950543" "00023950" "90" "47223" "0" "47223" "0" "c.*34311G>A" "r.(=)" "p.(=)" "" "" "0000950544" "00023950" "30" "47134" "0" "47134" "0" "c.*34222G>A" "r.(=)" "p.(=)" "" "" "0000950545" "00023950" "50" "47133" "0" "47133" "0" "c.*34221C>T" "r.(=)" "p.(=)" "" "" "0000950546" "00023950" "50" "45899" "0" "45899" "0" "c.*32987C>T" "r.(=)" "p.(=)" "" "" "0000950547" "00023950" "10" "43916" "0" "43916" "0" "c.*31004G>A" "r.(=)" "p.(=)" "" "" "0000950548" "00023950" "30" "39582" "0" "39582" "0" "c.*26670G>A" "r.(=)" "p.(=)" "" "" "0000950549" "00023950" "10" "20218" "0" "20218" "0" "c.*7306C>T" "r.(=)" "p.(=)" "" "" "0000950550" "00023950" "50" "16394" "0" "16394" "0" "c.*3482G>A" "r.(=)" "p.(=)" "" "" "0000950551" "00023950" "30" "15915" "0" "15915" "0" "c.*3003T>G" "r.(=)" "p.(=)" "" "" "0000950552" "00023950" "10" "14738" "0" "14738" "0" "c.*1826C>T" "r.(=)" "p.(=)" "" "" "0000950554" "00023950" "30" "14141" "0" "14141" "0" "c.*1229G>A" "r.(=)" "p.(=)" "" "" "0000950555" "00023950" "30" "12651" "0" "12651" "0" "c.12651C>T" "r.(?)" "p.(=)" "" "" "0000950556" "00023950" "30" "12492" "0" "12492" "0" "c.12492C>T" "r.(?)" "p.(Arg4164=)" "" "" "0000950557" "00023950" "10" "11934" "0" "11934" "0" "c.11934C>T" "r.(?)" "p.(=)" "" "" "0000950558" "00023950" "90" "11863" "0" "11863" "0" "c.11863C>T" "r.(?)" "p.(Gln3955*)" "" "" "0000950559" "00023950" "90" "11863" "0" "11863" "0" "c.11863C>T" "r.(?)" "p.(Gln3955*)" "" "" "0000950560" "00023950" "90" "11766" "0" "11766" "0" "c.11766G>A" "r.(?)" "p.(Trp3922*)" "" "" "0000950561" "00023950" "30" "10822" "-8" "10822" "-8" "c.10822-8del" "r.(=)" "p.(=)" "" "" "0000950562" "00023950" "30" "10240" "0" "10240" "0" "c.10240G>A" "r.(?)" "p.(Gly3414Ser)" "" "" "0000950563" "00023950" "50" "9314" "0" "9314" "0" "c.9314G>A" "r.(?)" "p.(Arg3105Gln)" "" "" "0000950564" "00023950" "30" "8874" "0" "8874" "0" "c.8874G>A" "r.(?)" "p.(=)" "" "" "0000950565" "00023950" "90" "8498" "0" "8498" "0" "c.8498C>T" "r.(?)" "p.(Pro2833Leu)" "" "" "0000950566" "00023950" "30" "8370" "0" "8370" "0" "c.8370G>A" "r.(?)" "p.(=)" "" "" "0000950567" "00023950" "50" "8309" "0" "8309" "0" "c.8309A>G" "r.(?)" "p.(Asn2770Ser)" "" "" "0000950568" "00023950" "50" "8247" "0" "8249" "0" "c.8247_8249del" "r.(?)" "p.(Ser2750del)" "" "" "0000950569" "00023950" "30" "8161" "7" "8161" "7" "c.8161+7C>T" "r.(=)" "p.(=)" "" "" "0000950570" "00023950" "90" "8017" "-2" "8017" "-1" "c.8017-2_8017-1del" "r.spl?" "p.?" "" "" "0000950571" "00023950" "90" "7732" "0" "7745" "0" "c.7732_7745del" "r.(?)" "p.(Asn2578Glyfs*12)" "" "" "0000950572" "00023950" "30" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Cys)" "" "" "0000950573" "00023950" "30" "7320" "0" "7320" "0" "c.7320C>T" "r.(?)" "p.(=)" "" "" "0000950574" "00023950" "50" "7099" "0" "7099" "0" "c.7099T>C" "r.(?)" "p.(Ser2367Pro)" "" "" "0000950575" "00023950" "90" "7066" "-2" "7066" "-2" "c.7066-2A>G" "r.spl?" "p.?" "" "" "0000950576" "00023950" "50" "6541" "0" "6541" "0" "c.6541T>A" "r.(?)" "p.(Tyr2181Asn)" "" "" "0000950577" "00023950" "30" "6330" "0" "6330" "0" "c.6330C>T" "r.(?)" "p.(=)" "" "" "0000950578" "00023950" "90" "5364" "0" "5364" "0" "c.5364del" "r.(?)" "p.(Ser1789Glnfs*14)" "" "" "0000950580" "00023950" "90" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Gln1116*)" "" "" "0000950581" "00023950" "90" "3165" "0" "3165" "0" "c.3165G>A" "r.(?)" "p.(Trp1055*)" "" "" "0000950582" "00023950" "90" "2504" "0" "2505" "0" "c.2504_2505del" "r.(?)" "p.(Arg835Profs*36)" "" "" "0000950583" "00023950" "50" "1386" "-6" "1386" "-6" "c.1386-6C>A" "r.(=)" "p.(=)" "" "" "0000950584" "00023950" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Ala285Thr)" "" "" "0000950585" "00023950" "50" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Ala234Val)" "" "" "0000950586" "00023950" "70" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Cys210Tyr)" "" "" "0000950587" "00023950" "50" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Leu93Pro)" "" "" "0000952226" "00023950" "90" "7376" "0" "7376" "0" "c.7376G>A" "r.(?)" "p.(Gly2459Asp)" "" "" "0000960244" "00023950" "50" "8300" "0" "8300" "0" "c.8300G>A" "r.(?)" "p.(Arg2767His)" "" "" "0000960282" "00023950" "50" "8291" "0" "8291" "0" "c.8291T>C" "r.(?)" "p.(Met2764Thr)" "" "" "0000968159" "00023950" "30" "49173" "0" "49173" "0" "c.*36261G>A" "r.(=)" "p.(=)" "" "" "0000968163" "00023950" "30" "41875" "0" "41875" "0" "c.*28963G>A" "r.(=)" "p.(=)" "" "" "0000968166" "00023950" "30" "40124" "0" "40124" "0" "c.*27212G>A" "r.(=)" "p.(=)" "" "" "0000968167" "00023950" "30" "36989" "0" "36989" "0" "c.*24077G>A" "r.(=)" "p.(=)" "" "" "0000968168" "00023950" "30" "32081" "0" "32081" "0" "c.*19169C>T" "r.(=)" "p.(=)" "" "" "0000968169" "00023950" "50" "32081" "0" "32081" "0" "c.*19169C>T" "r.(=)" "p.(=)" "" "" "0000968170" "00023950" "10" "30729" "0" "30729" "0" "c.*17817G>A" "r.(=)" "p.(=)" "" "" "0000968172" "00023950" "10" "28224" "0" "28224" "0" "c.*15312C>T" "r.(=)" "p.(=)" "" "" "0000968173" "00023950" "30" "26141" "0" "26141" "0" "c.*13229C>T" "r.(=)" "p.(=)" "" "" "0000968177" "00023950" "30" "18432" "0" "18432" "0" "c.*5520G>A" "r.(=)" "p.(=)" "" "" "0000968178" "00023950" "50" "17656" "0" "17658" "0" "c.*4744_*4746del" "r.(=)" "p.(=)" "" "" "0000968179" "00023950" "30" "14783" "0" "14783" "0" "c.*1871G>A" "r.(=)" "p.(=)" "" "" "0000968180" "00023950" "50" "14400" "0" "14400" "0" "c.*1488C>T" "r.(=)" "p.(=)" "" "" "0000968181" "00023950" "10" "14132" "0" "14132" "0" "c.*1220C>G" "r.(=)" "p.(=)" "" "" "0000968183" "00023950" "30" "12816" "0" "12816" "0" "c.12816C>T" "r.(?)" "p.(=)" "" "" "0000968184" "00023950" "10" "12444" "23" "12444" "23" "c.12444+23dup" "r.(=)" "p.(=)" "" "" "0000968185" "00023950" "90" "12031" "0" "12031" "0" "c.12031C>T" "r.(?)" "p.(Gln4011Ter)" "" "" "0000968188" "00023950" "30" "11015" "0" "11015" "0" "c.11015G>A" "r.(?)" "p.(Arg3672Gln)" "" "" "0000968189" "00023950" "30" "10351" "0" "10351" "0" "c.10351G>A" "r.(?)" "p.(Asp3451Asn)" "" "" "0000968190" "00023950" "30" "10050" "3" "10050" "3" "c.10050+3G>A" "r.spl?" "p.?" "" "" "0000968191" "00023950" "30" "9718" "0" "9718" "0" "c.9718G>A" "r.(?)" "p.(Ala3240Thr)" "" "" "0000968192" "00023950" "70" "9604" "0" "9604" "0" "c.9604G>T" "r.(?)" "p.(Val3202Phe)" "" "" "0000968193" "00023950" "70" "9543" "0" "9543" "0" "c.9543G>T" "r.(?)" "p.(Lys3181Asn)" "" "" "0000968195" "00023950" "30" "9398" "-14" "9398" "-14" "c.9398-14C>A" "r.(=)" "p.(=)" "" "" "0000968196" "00023950" "50" "9296" "0" "9296" "0" "c.9296A>T" "r.(?)" "p.(Asp3099Val)" "" "" "0000968197" "00023950" "50" "9200" "0" "9200" "0" "c.9200C>G" "r.(?)" "p.(Pro3067Arg)" "" "" "0000968198" "00023950" "50" "9191" "0" "9191" "0" "c.9191T>C" "r.(?)" "p.(Phe3064Ser)" "" "" "0000968199" "00023950" "90" "8984" "0" "8988" "0" "c.8984_8988del" "r.(?)" "p.(Leu2995Glnfs*72)" "" "" "0000968200" "00023950" "30" "8982" "0" "8982" "0" "c.8982C>T" "r.(?)" "p.(=)" "" "" "0000968201" "00023950" "90" "8970" "0" "8980" "0" "c.8970_8980del" "r.(?)" "p.(Ser2990Argfs*75)" "" "" "0000968202" "00023950" "70" "8933" "0" "8933" "0" "c.8933T>G" "r.(?)" "p.(Phe2978Cys)" "" "" "0000968203" "00023950" "50" "8888" "0" "8888" "0" "c.8888T>C" "r.(?)" "p.(Ile2963Thr)" "" "" "0000968204" "00023950" "90" "8791" "2" "8791" "2" "c.8791+2T>A" "r.spl?" "p.?" "" "" "0000968205" "00023950" "70" "8776" "0" "8776" "0" "c.8776T>A" "r.(?)" "p.(Tyr2926Asn)" "" "" "0000968206" "00023950" "10" "8679" "0" "8679" "0" "c.8679C>G" "r.(?)" "p.(Ser2893=)" "" "" "0000968208" "00023950" "70" "8300" "0" "8300" "0" "c.8300G>C" "r.(?)" "p.(Arg2767Pro)" "" "" "0000968209" "00023950" "30" "8298" "0" "8298" "0" "c.8298C>T" "r.(?)" "p.(Ser2766=)" "" "" "0000968210" "00023950" "30" "8293" "0" "8293" "0" "c.8293C>T" "r.(?)" "p.(Arg2765Cys)" "" "" "0000968213" "00023950" "50" "7671" "0" "7673" "0" "c.7671_7673del" "r.(?)" "p.(Asp2557_Gln2558delinsGlu)" "" "" "0000968214" "00023950" "70" "7490" "-2" "7490" "-2" "c.7490-2A>T" "r.spl?" "p.?" "" "" "0000968215" "00023950" "50" "7430" "0" "7430" "0" "c.7430G>C" "r.(?)" "p.(Arg2477Pro)" "" "" "0000968216" "00023950" "30" "7210" "-7" "7210" "-7" "c.7210-7C>T" "r.(=)" "p.(=)" "" "" "0000968217" "00023950" "10" "6915" "20" "6915" "20" "c.6915+20G>A" "r.(=)" "p.(=)" "" "" "0000968218" "00023950" "50" "6637" "0" "6637" "0" "c.6637C>T" "r.(?)" "p.(Arg2213Trp)" "" "" "0000968219" "00023950" "90" "6542" "0" "6542" "0" "c.6542dup" "r.(?)" "p.(Tyr2181*)" "" "" "0000968220" "00023950" "90" "6367" "0" "6367" "0" "c.6367C>T" "r.(?)" "p.(Gln2123*)" "" "" "0000968221" "00023950" "30" "6151" "0" "6151" "0" "c.6151C>T" "r.(?)" "p.(Arg2051Cys)" "" "" "0000968222" "00023950" "30" "5811" "0" "5811" "0" "c.5811C>G" "r.(?)" "p.(=)" "" "" "0000968223" "00023950" "50" "5704" "0" "5704" "0" "c.5704G>A" "r.(?)" "p.(Gly1902Arg)" "" "" "0000968225" "00023950" "50" "5501" "0" "5501" "0" "c.5501A>G" "r.(?)" "p.(Asn1834Ser)" "" "" "0000968226" "00023950" "50" "5186" "0" "5186" "0" "c.5186C>T" "r.(?)" "p.(Pro1729Leu)" "" "" "0000968227" "00023950" "30" "5142" "0" "5142" "0" "c.5142C>T" "r.(?)" "p.(=)" "" "" "0000968229" "00023950" "30" "4654" "0" "4654" "0" "c.4654G>A" "r.(?)" "p.(Val1552Ile)" "" "" "0000968230" "00023950" "30" "3731" "0" "3731" "0" "c.3731C>T" "r.(?)" "p.(Thr1244Ile)" "" "" "0000968231" "00023950" "90" "2676" "0" "2677" "0" "c.2676_2677del" "r.(?)" "p.(Leu893ValfsTer11)" "" "" "0000968233" "00023950" "70" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Leu845Ser)" "" "" "0000968234" "00023950" "90" "2311" "0" "2326" "0" "c.2311_2326del" "r.(?)" "p.(Leu771Asnfs*9)" "" "" "0000968235" "00023950" "30" "2266" "0" "2266" "0" "c.2266G>A" "r.(?)" "p.(Ala756Thr)" "" "" "0000968237" "00023950" "30" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(=)" "" "" "0000968238" "00023950" "90" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Val466Met)" "" "" "0000968239" "00023950" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Gly441=)" "" "" "0000968240" "00023950" "30" "1123" "0" "1123" "0" "c.1123C>A" "r.(?)" "p.(Leu375Ile)" "" "" "0000968242" "00023950" "10" "1119" "0" "1119" "0" "c.1119=" "r.(=)" "p.(Leu373=)" "" "" "0000968244" "00023950" "30" "987" "0" "987" "0" "c.987G>T" "r.(?)" "p.(=)" "" "" "0000968245" "00023950" "50" "974" "0" "974" "0" "c.974A>C" "r.(?)" "p.(Tyr325Ser)" "" "" "0000968246" "00023950" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(=)" "" "" "0000968247" "00023950" "30" "287" "15" "287" "15" "c.287+15G>A" "r.(=)" "p.(=)" "" "" "0000968248" "00023950" "30" "216" "-17" "216" "-17" "c.216-17G>A" "r.(=)" "p.(=)" "" "" "0000968251" "00023950" "10" "107" "0" "107" "0" "c.107C>A" "r.(?)" "p.(Pro36His)" "" "" "0000972397" "00023950" "90" "8017" "-2" "8017" "-1" "c.8017-2_8017-1del" "r.spl" "p.?" "" "" "0000972398" "00023950" "90" "9564" "0" "9566" "0" "c.9564_9566del" "r.(?)" "p.(Asn3188del)" "" "" "0000972402" "00023950" "70" "11711" "0" "11711" "0" "c.11711C>G" "r.(?)" "p.(Ser3904Trp)" "42" "" "0000972403" "00023950" "90" "11102" "0" "11102" "0" "c.11102T>G" "r.(?)" "p.(Leu3701Arg)" "38" "" "0000972404" "00023950" "90" "5645" "0" "5645" "0" "c.5645C>T" "r.(?)" "p.(Thr1882Met)" "15" "" "0000972405" "00023950" "90" "8594" "0" "8594" "0" "c.8594G>A" "r.(?)" "p.(Arg2865Gln)" "23" "" "0000972406" "00023950" "90" "11692" "0" "11693" "0" "c.11692_11693del" "r.(?)" "p.(Ser3898AlafsTer62)" "42" "" "0000972407" "00023950" "50" "4051" "0" "4051" "0" "c.4051C>T" "r.(?)" "p.(Arg1351Trp)" "15" "" "0000972408" "00023950" "90" "2494" "0" "2494" "0" "c.2494dup" "r.(?)" "p.(Arg832ProfsTer40)" "11" "" "0000972409" "00023950" "70" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "19" "" "0000972410" "00023950" "90" "11816" "0" "11816" "0" "c.11816G>A" "r.(?)" "p.(Trp3939Ter)" "43" "" "0000972412" "00023950" "90" "3607" "0" "3607" "0" "c.3607C>T" "r.(?)" "p.(Gln1203Ter)" "15" "" "0000972413" "00023950" "90" "9505" "0" "9505" "0" "c.9505C>T" "r.(?)" "p.(Arg3169Trp)" "27" "" "0000972417" "00023950" "90" "1522" "0" "1522" "0" "c.1522T>G" "r.(?)" "p.(Cys508Gly)" "7" "" "0000972418" "00023950" "90" "10309" "0" "10309" "0" "c.10309C>G" "r.(?)" "p.(Leu3437Val)" "33" "" "0000972419" "00023950" "90" "8631" "0" "8631" "0" "c.8631del" "r.(?)" "p.(Asn2878ThrfsTer116)" "23" "" "0000972420" "00023950" "90" "1287" "0" "1287" "0" "c.1287G>A" "r.(?)" "p.(Trp429Ter)" "6" "" "0000972421" "00023950" "90" "3449" "0" "3449" "0" "c.3449C>T" "r.(?)" "p.(Pro1150Leu)" "15" "" "0000972422" "00023950" "70" "11614" "0" "11614" "0" "c.11614G>C" "r.(?)" "p.(Glu3872Gln)" "42" "" "0000972423" "00023950" "90" "9586" "0" "9586" "0" "c.9586T>A" "r.(?)" "p.(Phe3196Ile)" "28" "" "0000972424" "00023950" "90" "11569" "0" "11572" "0" "c.11569_11572dup" "r.(?)" "p.(Ser3858IlefsTer104)" "42" "" "0000972425" "00023950" "90" "5770" "0" "5770" "0" "c.5770G>A" "r.(?)" "p.(Gly1924Ser)" "15" "" "0000972426" "00023950" "90" "6796" "0" "6796" "0" "c.6796C>G" "r.(?)" "p.(Arg2266Gly)" "15" "" "0000972427" "00023950" "90" "6733" "0" "6740" "0" "c.6733_6740del" "r.(?)" "p.(Ile2245GlnfsTer14)" "15" "" "0000972428" "00023950" "90" "6472" "0" "6472" "0" "c.6472C>T" "r.(?)" "p.(Gln2158Ter)" "15" "" "0000972429" "00023950" "90" "-75" "0" "-69" "0" "c.-75_-69dup" "r.?" "p.?" "1" "" "0000972430" "00023950" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Gln563Ter)" "8" "" "0000972431" "00023950" "90" "5316" "0" "5316" "0" "c.5316dup" "r.(?)" "p.(Thr1773HisfsTer217)" "15" "" "0000972432" "00023950" "90" "7100" "0" "7100" "0" "c.7100C>T" "r.(?)" "p.(Ser2367Phe)" "17" "" "0000972433" "00023950" "50" "7381" "0" "7381" "0" "c.7381G>C" "r.(?)" "p.(Ala2461Pro)" "18" "" "0000972448" "00023950" "50" "4090" "0" "4090" "0" "c.4090C>T" "r.(?)" "p.(Arg1364Cys)" "15" "" "0000972449" "00023950" "50" "6935" "0" "6935" "0" "c.6935C>T" "r.(?)" "p.(Ala2312Val)" "42 15 1" "" "0000972451" "00023950" "50" "11333" "0" "11333" "0" "c.11333C>A" "r.(?)" "p.(Thr3778Asn)" "40" "" "0000972452" "00023950" "50" "10904" "0" "10904" "0" "c.10904C>A" "r.(?)" "p.(Ala3635Asp)" "37" "" "0000972453" "00023950" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Pro283Leu)" "5" "" "0000972454" "00023950" "50" "6680" "0" "6680" "0" "c.6680A>T" "r.(?)" "p.(His2227Leu)" "15" "" "0000972457" "00023950" "50" "8780" "0" "8780" "0" "c.8780C>T" "r.(?)" "p.(Thr2927Met)" "23" "" "0000972464" "00023950" "90" "107" "0" "108" "0" "c.107_108dup" "r.(?)" "p.(Cys37ProfsTer37)" "1" "" "0000972465" "00023950" "90" "109" "0" "109" "0" "c.109del" "r.(?)" "p.(Cys37AlafsTer36)" "1" "" "0000972466" "00023950" "90" "158" "0" "179" "0" "c.158_179del" "r.(?)" "p.(Gly53ValfsTer13)" "1" "" "0000972467" "00023950" "90" "165" "0" "171" "0" "c.165_171del" "r.(?)" "p.(Leu56ArgfsTer15)" "1" "" "0000972468" "00023950" "90" "216" "-1" "216" "-1" "c.216-1G>C" "r.spl" "p.?" "" "" "0000972469" "00023950" "90" "" "0" "" "0" "c.-209_(215+1_216-1){0}" "r.0?" "p.0?" "_1_1i" "" "0000972470" "00023950" "90" "" "0" "" "0" "c.-209_(215+1_216-1){0}" "r.0?" "p.0?" "_1_1i" "" "0000972471" "00023950" "90" "288" "-2" "288" "-2" "c.288-2A>G" "r.spl" "p.?" "" "" "0000972472" "00023950" "90" "359" "1" "359" "1" "c.359+1G>A" "r.spl" "p.?" "" "" "0000972473" "00023950" "90" "393" "0" "394" "0" "c.393_394del" "r.(?)" "p.(Cys131TrpfsTer47)" "4" "" "0000972474" "00023950" "90" "617" "0" "617" "0" "c.617dup" "r.(?)" "p.(Pro207AlafsTer54)" "5" "" "0000972475" "00023950" "90" "661" "0" "701" "0" "c.661_701del" "r.(?)" "p.(Leu221GlyfsTer26)" "5" "" "0000972476" "00023950" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236Ter)" "5" "" "0000972477" "00023950" "90" "726" "0" "726" "0" "c.726dup" "r.(?)" "p.(Ala243CysfsTer18)" "5" "" "0000972478" "00023950" "90" "856" "0" "862" "0" "c.856_862del" "r.(?)" "p.(Gly287Ter)" "5" "" "0000972479" "00023950" "90" "856" "0" "862" "0" "c.856_862del" "r.(?)" "p.(Gly287Ter)" "5" "" "0000972480" "00023950" "90" "856" "0" "862" "0" "c.856_862del" "r.(?)" "p.(Gly287Ter)" "5" "" "0000972481" "00023950" "90" "1111" "0" "1111" "0" "c.1111G>T" "r.(?)" "p.(Glu371Ter)" "5" "" "0000972482" "00023950" "90" "1516" "0" "1516" "0" "c.1516G>T" "r.(?)" "p.(Glu506Ter)" "7" "" "0000972483" "00023950" "90" "1516" "0" "1516" "0" "c.1516G>T" "r.(?)" "p.(Glu506Ter)" "7" "" "0000972484" "00023950" "90" "1524" "0" "1524" "0" "c.1524C>A" "r.(?)" "p.(Cys508Ter)" "7" "" "0000972485" "00023950" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533Ter)" "7" "" "0000972486" "00023950" "90" "1606" "2" "1606" "2" "c.1606+2T>C" "r.spl" "p.?" "" "" "0000972487" "00023950" "90" "1670" "0" "1670" "0" "c.1670del" "r.(?)" "p.(Leu557ArgfsTer27)" "8" "" "0000972488" "00023950" "90" "1670" "0" "1670" "0" "c.1670del" "r.(?)" "p.(Leu557ArgfsTer27)" "8" "" "0000972489" "00023950" "90" "1670" "0" "1670" "0" "c.1670del" "r.(?)" "p.(Leu557ArgfsTer27)" "8" "" "0000972490" "00023950" "90" "1670" "0" "1670" "0" "c.1670del" "r.(?)" "p.(Leu557ArgfsTer27)" "8" "" "0000972491" "00023950" "90" "1722" "1" "1722" "1" "c.1722+1G>A" "r.spl" "p.?" "" "" "0000972492" "00023950" "90" "1723" "-2" "1723" "-2" "c.1723-2A>C" "r.spl" "p.?" "" "" "0000972493" "00023950" "90" "1772" "0" "1772" "0" "c.1772del" "r.(?)" "p.(Thr591ArgfsTer194)" "9" "" "0000972494" "00023950" "90" "1930" "0" "1930" "0" "c.1930G>T" "r.(?)" "p.(Gly644Ter)" "10" "" "0000972495" "00023950" "90" "2038" "0" "2038" "0" "c.2038del" "r.(?)" "p.(Tyr680MetfsTer105)" "10" "" "0000972496" "00023950" "90" "2085" "0" "2085" "0" "c.2085dup" "r.(?)" "p.(Ala696ArgfsTer18)" "10" "" "0000972497" "00023950" "90" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Gln697Ter)" "10" "" "0000972498" "00023950" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Gln718Ter)" "11" "" "0000972499" "00023950" "90" "2208" "0" "2215" "0" "c.2208_2215dup" "r.(?)" "p.(Gln739LeufsTer49)" "11" "" "0000972500" "00023950" "90" "2298" "0" "2308" "0" "c.2298_2308del" "r.(?)" "p.(Cys767AlafsTer27)" "11" "" "0000972501" "00023950" "90" "2298" "0" "2308" "0" "c.2298_2308del" "r.(?)" "p.(Cys767AlafsTer27)" "11" "" "0000972502" "00023950" "90" "2487" "0" "2487" "0" "c.2487dup" "r.(?)" "p.(Ala830CysfsTer42)" "11" "" "0000972503" "00023950" "90" "2582" "0" "2582" "0" "c.2582G>A" "r.(?)" "p.(Trp861Ter)" "11" "" "0000972504" "00023950" "90" "2615" "0" "2616" "0" "c.2615_2616insN[20]" "r.(?)" "p.(Val873HisfsTer32)" "11" "" "0000972505" "00023950" "90" "2674" "0" "2674" "0" "c.2674dup" "r.(?)" "p.(Thr892AsnfsTer13)" "11" "" "0000972506" "00023950" "90" "2684" "0" "2685" "0" "c.2684_2685del" "r.(?)" "p.(Ser895CysfsTer9)" "11" "" "0000972507" "00023950" "90" "2699" "0" "2699" "0" "c.2699dup" "r.(?)" "p.(Trp901ValfsTer4)" "11" "" "0000972508" "00023950" "90" "2833" "0" "2834" "0" "c.2833_2834del" "r.(?)" "p.(Val945ThrfsTer155)" "11" "" "0000972509" "00023950" "90" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Gln947Ter)" "11" "" "0000972510" "00023950" "90" "2840" "0" "2840" "0" "c.2840dup" "r.(?)" "p.(Val949SerfsTer152)" "11" "" "0000972511" "00023950" "90" "2854" "-1" "2854" "-1" "c.2854-1G>A" "r.spl" "p.?" "" "" "0000972512" "00023950" "90" "2854" "-1" "2854" "-1" "c.2854-1G>A" "r.spl" "p.?" "" "" "0000972513" "00023950" "90" "2854" "-2" "2854" "-2" "c.2854-2A>G" "r.spl" "p.?" "" "" "0000972514" "00023950" "90" "2859" "0" "2859" "0" "c.2859C>G" "r.(?)" "p.(Tyr953Ter)" "12" "" "0000972515" "00023950" "90" "2865" "0" "2865" "0" "c.2865del" "r.(?)" "p.(Val956TrpfsTer20)" "12" "" "0000972516" "00023950" "90" "2958" "0" "2958" "0" "c.2958T>G" "r.(?)" "p.(Tyr986Ter)" "12" "" "0000972517" "00023950" "90" "2962" "0" "2963" "0" "c.2962_2963del" "r.(?)" "p.(Ser988ArgfsTer112)" "12" "" "0000972518" "00023950" "90" "2968" "0" "2969" "0" "c.2968_2969delinsT" "r.(?)" "p.(Ala990TrpfsTer7)" "12" "" "0000972519" "00023950" "90" "2969" "0" "2970" "0" "c.2969_2970dup" "r.(?)" "p.(Val991ArgfsTer7)" "12" "" "0000972520" "00023950" "90" "2985" "1" "2985" "1" "c.2985+1G>A" "r.spl" "p.?" "" "" "0000972521" "00023950" "90" "2985" "2" "2985" "2" "c.2985+2T>A" "r.spl" "p.?" "" "" "0000972522" "00023950" "90" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Gln1020Ter)" "13" "" "0000972523" "00023950" "90" "3058" "0" "3058" "0" "c.3058C>T" "r.(?)" "p.(Gln1020Ter)" "13" "" "0000972524" "00023950" "90" "3184" "0" "3184" "0" "c.3184C>T" "r.(?)" "p.(Gln1062Ter)" "14" "" "0000972525" "00023950" "90" "3212" "0" "3245" "0" "c.3212_3245del" "r.(?)" "p.(Tyr1071TrpfsTer22)" "14" "" "0000972526" "00023950" "90" "3213" "0" "3213" "0" "c.3213C>G" "r.(?)" "p.(Tyr1071Ter)" "14" "" "0000972527" "00023950" "90" "3213" "0" "3213" "0" "c.3213C>G" "r.(?)" "p.(Tyr1071Ter)" "14" "" "0000972528" "00023950" "90" "3315" "0" "3324" "0" "c.3315_3324del" "r.(?)" "p.(Leu1106MetfsTer6)" "15" "" "0000972529" "00023950" "90" "3356" "0" "3357" "0" "c.3356_3357insA" "r.(?)" "p.(Val1120CysfsTer16)" "15" "" "0000972530" "00023950" "90" "3425" "0" "3428" "0" "c.3425_3428del" "r.(?)" "p.(Arg1142ProfsTer28)" "15" "" "0000972531" "00023950" "90" "3441" "0" "3441" "0" "c.3441C>G" "r.(?)" "p.(Tyr1147Ter)" "15" "" "0000972532" "00023950" "90" "3477" "0" "3477" "0" "c.3477C>G" "r.(?)" "p.(Tyr1159Ter)" "15" "" "0000972533" "00023950" "90" "3493" "0" "3493" "0" "c.3493del" "r.(?)" "p.(Asp1165ThrfsTer6)" "15" "" "0000972534" "00023950" "90" "3538" "0" "3539" "0" "c.3538_3539dup" "r.(?)" "p.(Tyr1181ProfsTer18)" "15" "" "0000972535" "00023950" "90" "3538" "0" "3564" "0" "c.3538_3564del" "r.(?)" "p.(Thr1180_His1188del)" "15" "" "0000972536" "00023950" "90" "3624" "0" "3645" "0" "c.3624_3645delinsT" "r.(?)" "p.(Phe1209_Leu1215del)" "15" "" "0000972537" "00023950" "90" "3640" "0" "3640" "0" "c.3640G>T" "r.(?)" "p.(Gly1214Ter)" "15" "" "0000972538" "00023950" "90" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Trp1243Ter)" "15" "" "0000972539" "00023950" "90" "3907" "0" "3908" "0" "c.3907_3908del" "r.(?)" "p.(Ala1303LeufsTer7)" "15" "" "0000972540" "00023950" "90" "3942" "0" "3969" "0" "c.3942_3969del" "r.(?)" "p.(Ala1315ThrfsTer22)" "15" "" "0000972541" "00023950" "90" "4070" "0" "4070" "0" "c.4070del" "r.(?)" "p.(Leu1357ArgfsTer9)" "15" "" "0000972542" "00023950" "90" "4070" "0" "4070" "0" "c.4070del" "r.(?)" "p.(Leu1357ArgfsTer9)" "15" "" "0000972543" "00023950" "90" "4135" "0" "4135" "0" "c.4135G>T" "r.(?)" "p.(Glu1379Ter)" "15" "" "0000972544" "00023950" "90" "4198" "0" "4201" "0" "c.4198_4201del" "r.(?)" "p.(Leu1400TrpfsTer31)" "15" "" "0000972545" "00023950" "90" "4247" "0" "4248" "0" "c.4247_4248del" "r.(?)" "p.(Phe1416TrpfsTer14)" "15" "" "0000972546" "00023950" "90" "4255" "0" "4273" "0" "c.4255_4273delinsTGAG" "r.(?)" "p.(Glu1419Ter)" "15" "" "0000972547" "00023950" "90" "4297" "0" "4298" "0" "c.4297_4298insCACGT" "r.(?)" "p.(Phe1433SerfsTer13)" "15" "" "0000972548" "00023950" "90" "4297" "0" "4298" "0" "c.4297_4298insCACGT" "r.(?)" "p.(Phe1433SerfsTer13)" "15" "" "0000972549" "00023950" "90" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Ter)" "15" "" "0000972550" "00023950" "90" "4331" "0" "4332" "0" "c.4331_4332del" "r.(?)" "p.(Thr1444SerfsTer12)" "15" "" "0000972551" "00023950" "90" "4387" "0" "4387" "0" "c.4387C>T" "r.(?)" "p.(Gln1463Ter)" "15" "" "0000972552" "00023950" "90" "4442" "0" "4442" "0" "c.4442dup" "r.(?)" "p.(Gln1482AlafsTer41)" "15" "" "0000972553" "00023950" "90" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Gln1482Ter)" "15" "" "0000972554" "00023950" "90" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Gln1482Ter)" "15" "" "0000972555" "00023950" "90" "4447" "0" "4447" "0" "c.4447C>T" "r.(?)" "p.(Gln1483Ter)" "15" "" "0000972556" "00023950" "90" "4460" "0" "4461" "0" "c.4460_4461insA" "r.(?)" "p.(Phe1487LeufsTer36)" "15" "" "0000972557" "00023950" "90" "4551" "0" "4551" "0" "c.4551C>G" "r.(?)" "p.(Tyr1517Ter)" "15" "" "0000972558" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539Ter)" "15" "" "0000972559" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539Ter)" "15" "" "0000972560" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539Ter)" "15" "" "0000972561" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539Ter)" "15" "" "0000972562" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539Ter)" "15" "" "0000972563" "00023950" "90" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Trp1539Ter)" "15" "" "0000972564" "00023950" "90" "4797" "0" "4797" "0" "c.4797C>G" "r.(?)" "p.(Tyr1599Ter)" "15" "" "0000972565" "00023950" "90" "4880" "0" "4881" "0" "c.4880_4881del" "r.(?)" "p.(Tyr1627CysfsTer30)" "15" "" "0000972566" "00023950" "90" "4895" "0" "4896" "0" "c.4895_4896del" "r.(?)" "p.(Ile1632ArgfsTer25)" "15" "" "0000972567" "00023950" "90" "4906" "0" "4906" "0" "c.4906C>T" "r.(?)" "p.(Gln1636Ter)" "15" "" "0000972568" "00023950" "90" "4906" "0" "4906" "0" "c.4906C>T" "r.(?)" "p.(Gln1636Ter)" "15" "" "0000972569" "00023950" "90" "4935" "0" "4935" "0" "c.4935del" "r.(?)" "p.(Thr1646ProfsTer76)" "15" "" "0000972570" "00023950" "90" "4951" "0" "4951" "0" "c.4951C>T" "r.(?)" "p.(Gln1651Ter)" "15" "" "0000972571" "00023950" "90" "4957" "0" "4957" "0" "c.4957C>T" "r.(?)" "p.(Gln1653Ter)" "15" "" "0000972572" "00023950" "90" "4957" "0" "4957" "0" "c.4957C>T" "r.(?)" "p.(Gln1653Ter)" "15" "" "0000972573" "00023950" "90" "4973" "0" "5006" "0" "c.4973_5006dup" "r.(?)" "p.(Trp1669Ter)" "15" "" "0000972574" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972575" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972576" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972577" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972578" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972579" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972580" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972581" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972582" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972583" "00023950" "90" "5014" "0" "5015" "0" "c.5014_5015del" "r.(?)" "p.(Arg1672GlyfsTer98)" "15" "" "0000972584" "00023950" "90" "5080" "0" "5103" "0" "c.5080_5103del" "r.(?)" "p.(His1694_Asn1701del)" "15" "" "0000972585" "00023950" "90" "5086" "0" "5086" "0" "c.5086C>T" "r.(?)" "p.(Gln1696Ter)" "15" "" "0000972586" "00023950" "90" "5120" "0" "5120" "0" "c.5120G>A" "r.(?)" "p.(Trp1707Ter)" "15" "" "0000972587" "00023950" "90" "5120" "0" "5120" "0" "c.5120G>A" "r.(?)" "p.(Trp1707Ter)" "15" "" "0000972588" "00023950" "90" "5186" "0" "5186" "0" "c.5186del" "r.(?)" "p.(Pro1729GlnfsTer30)" "15" "" "0000972589" "00023950" "90" "5186" "0" "5186" "0" "c.5186del" "r.(?)" "p.(Pro1729GlnfsTer30)" "15" "" "0000972590" "00023950" "90" "5242" "0" "5257" "0" "c.5242_5257del" "r.(?)" "p.(Val1748ProfsTer6)" "15" "" "0000972591" "00023950" "90" "5290" "0" "5290" "0" "c.5290G>T" "r.(?)" "p.(Glu1764Ter)" "15" "" "0000972592" "00023950" "90" "5480" "0" "5481" "0" "c.5480_5481dup" "r.(?)" "p.(Gln1828GlyfsTer9)" "15" "" "0000972593" "00023950" "90" "5482" "0" "5482" "0" "c.5482C>T" "r.(?)" "p.(Gln1828Ter)" "15" "" "0000972594" "00023950" "90" "5515" "0" "5515" "0" "c.5515del" "r.(?)" "p.(Trp1839GlyfsTer110)" "15" "" "0000972595" "00023950" "90" "5560" "0" "5560" "0" "c.5560dup" "r.(?)" "p.(Met1854AsnfsTer136)" "15" "" "0000972596" "00023950" "90" "5567" "0" "5567" "0" "c.5567dup" "r.(?)" "p.(Asp1858GlyfsTer132)" "15" "" "0000972597" "00023950" "90" "5628" "0" "5629" "0" "c.5628_5629delinsC" "r.(?)" "p.(Ala1877ProfsTer72)" "15" "" "0000972598" "00023950" "90" "5758" "0" "5758" "0" "c.5758del" "r.(?)" "p.(Arg1920AlafsTer29)" "15" "" "0000972599" "00023950" "90" "5824" "0" "5824" "0" "c.5824dup" "r.(?)" "p.(Arg1942ProfsTer48)" "15" "" "0000972600" "00023950" "90" "5861" "0" "5861" "0" "c.5861dup" "r.(?)" "p.(Asn1954LysfsTer36)" "15" "" "0000972601" "00023950" "90" "5899" "0" "5899" "0" "c.5899del" "r.(?)" "p.(Val1967CysfsTer5)" "15" "" "0000972602" "00023950" "90" "5912" "0" "5913" "0" "c.5912_5913del" "r.(?)" "p.(Val1971GlufsTer18)" "15" "" "0000972603" "00023950" "90" "5968" "0" "5969" "0" "c.5968_5969del" "r.(?)" "p.(Arg1990GlufsTer59)" "15" "" "0000972604" "00023950" "90" "5971" "0" "6018" "0" "c.5971_6018del" "r.(?)" "p.(Asn1991_Trp2006del)" "15" "" "0000972605" "00023950" "90" "5971" "0" "6018" "0" "c.5971_6018del" "r.(?)" "p.(Ser2000_Tyr2007del)" "15" "" "0000972606" "00023950" "90" "6031" "0" "6031" "0" "c.6031C>T" "r.(?)" "p.(Gln2011Ter)" "15" "" "0000972607" "00023950" "90" "6040" "0" "6040" "0" "c.6040C>T" "r.(?)" "p.(Gln2014Ter)" "15" "" "0000972608" "00023950" "90" "6090" "0" "6090" "0" "c.6090del" "r.(?)" "p.(Val2031TrpfsTer85)" "15" "" "0000972609" "00023950" "90" "6090" "0" "6090" "0" "c.6090del" "r.(?)" "p.(Val2031TrpfsTer85)" "15" "" "0000972610" "00023950" "90" "6115" "0" "6115" "0" "c.6115C>T" "r.(?)" "p.(Gln2039Ter)" "15" "" "0000972611" "00023950" "90" "6206" "0" "6207" "0" "c.6206_6207delinsA" "r.(?)" "p.(Gly2069AspfsTer47)" "15" "" "0000972612" "00023950" "90" "6307" "0" "6307" "0" "c.6307C>T" "r.(?)" "p.(Gln2103Ter)" "15" "" "0000972613" "00023950" "90" "6475" "0" "6476" "0" "c.6475_6476insCCCC" "r.(?)" "p.(Val2159AlafsTer17)" "15" "" "0000972614" "00023950" "90" "6487" "0" "6487" "0" "c.6487C>T" "r.(?)" "p.(Arg2163Ter)" "15" "" "0000972615" "00023950" "90" "6487" "0" "6487" "0" "c.6487C>T" "r.(?)" "p.(Arg2163Ter)" "15" "" "0000972616" "00023950" "90" "6487" "0" "6487" "0" "c.6487C>T" "r.(?)" "p.(Arg2163Ter)" "15" "" "0000972617" "00023950" "90" "6491" "0" "6491" "0" "c.6491C>G" "r.(?)" "p.(Ser2164Ter)" "15" "" "0000972618" "00023950" "90" "6518" "0" "6528" "0" "c.6518_6528del" "r.(?)" "p.(Val2173GlyfsTer8)" "15" "" "0000972619" "00023950" "90" "6543" "0" "6543" "0" "c.6543C>G" "r.(?)" "p.(Tyr2181Ter)" "15" "" "0000972620" "00023950" "90" "6560" "0" "6560" "0" "c.6560G>A" "r.(?)" "p.(Trp2187Ter)" "15" "" "0000972621" "00023950" "90" "6570" "0" "6570" "0" "c.6570T>A" "r.(?)" "p.(Tyr2190Ter)" "15" "" "0000972622" "00023950" "90" "6574" "0" "6580" "0" "c.6574_6580del" "r.(?)" "p.(Thr2192AlafsTer18)" "15" "" "0000972623" "00023950" "90" "6583" "0" "6589" "0" "c.6583_6589del" "r.(?)" "p.(Cys2195GlyfsTer15)" "15" "" "0000972624" "00023950" "90" "6583" "0" "6589" "0" "c.6583_6589del" "r.(?)" "p.(Cys2195GlyfsTer15)" "15" "" "0000972625" "00023950" "90" "6607" "0" "6625" "0" "c.6607_6625dup" "r.(?)" "p.(Val2209AlafsTer59)" "15" "" "0000972626" "00023950" "90" "6727" "0" "6728" "0" "c.6727_6728del" "r.(?)" "p.(Gln2243GlufsTer18)" "15" "" "0000972627" "00023950" "90" "6727" "0" "6730" "0" "c.6727_6730del" "r.(?)" "p.(Gln2243AlafsTer6)" "15" "" "0000972628" "00023950" "90" "6730" "0" "6731" "0" "c.6730_6731del" "r.(?)" "p.(Ser2244HisfsTer17)" "15" "" "0000972629" "00023950" "90" "6730" "0" "6731" "0" "c.6730_6731del" "r.(?)" "p.(Ser2244HisfsTer17)" "15" "" "0000972630" "00023950" "90" "6801" "0" "6805" "0" "c.6801_6805dup" "r.(?)" "p.(Ser2269CysfsTer47)" "15" "" "0000972631" "00023950" "90" "6808" "0" "6811" "0" "c.6808_6811del" "r.(?)" "p.(Asp2270HisfsTer43)" "15" "" "0000972632" "00023950" "90" "6893" "0" "6893" "0" "c.6893G>A" "r.(?)" "p.(Trp2298Ter)" "15" "" "0000972633" "00023950" "90" "6915" "2" "6915" "2" "c.6915+2T>G" "r.spl" "p.?" "" "" "0000972634" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000del" "r.(?)" "p.(Ala2332TrpfsTer7)" "16" "" "0000972635" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000del" "r.(?)" "p.(Ala2332TrpfsTer7)" "16" "" "0000972636" "00023950" "90" "6996" "0" "7002" "0" "c.6996_7002del" "r.(?)" "p.(Gly2333SerfsTer6)" "16" "" "0000972637" "00023950" "90" "7008" "0" "7008" "0" "c.7008C>A" "r.(?)" "p.(Tyr2336Ter)" "16" "" "0000972638" "00023950" "90" "7045" "0" "7045" "0" "c.7045G>T" "r.(?)" "p.(Glu2349Ter)" "16" "" "0000972639" "00023950" "90" "7060" "0" "7060" "0" "c.7060C>T" "r.(?)" "p.(Gln2354Ter)" "16" "" "0000972640" "00023950" "90" "7066" "-2" "7066" "-2" "c.7066-2A>G" "r.spl" "p.?" "" "" "0000972641" "00023950" "90" "7137" "0" "7137" "0" "c.7137C>G" "r.(?)" "p.(Tyr2379Ter)" "17" "" "0000972642" "00023950" "90" "7158" "0" "7158" "0" "c.7158C>G" "r.(?)" "p.(Tyr2386Ter)" "17" "" "0000972643" "00023950" "90" "7204" "0" "7204" "0" "c.7204C>T" "r.(?)" "p.(Arg2402Ter)" "17" "" "0000972644" "00023950" "90" "7204" "0" "7204" "0" "c.7204C>T" "r.(?)" "p.(Arg2402Ter)" "17" "" "0000972645" "00023950" "90" "7215" "0" "7215" "0" "c.7215G>A" "r.(?)" "p.(Trp2405Ter)" "18" "" "0000972646" "00023950" "90" "7250" "0" "7250" "0" "c.7250del" "r.(?)" "p.(Leu2417ArgfsTer203)" "18" "" "0000972647" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Ter)" "18" "" "0000972648" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Ter)" "18" "" "0000972649" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Ter)" "18" "" "0000972650" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Ter)" "18" "" "0000972651" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Ter)" "18" "" "0000972652" "00023950" "90" "7288" "0" "7288" "0" "c.7288C>T" "r.(?)" "p.(Arg2430Ter)" "18" "" "0000972653" "00023950" "90" "7303" "0" "7317" "0" "c.7303_7317del" "r.(?)" "p.(Arg2435_Arg2439del)" "18" "" "0000972654" "00023950" "90" "7421" "0" "7421" "0" "c.7421del" "r.(?)" "p.(Gly2474AlafsTer146)" "18" "" "0000972655" "00023950" "90" "7490" "-2" "7490" "-2" "c.7490-2A>G" "r.spl" "p.?" "" "" "0000972656" "00023950" "90" "7490" "-2" "7490" "-2" "c.7490-2A>G" "r.spl" "p.?" "" "" "0000972657" "00023950" "90" "7555" "0" "7555" "0" "c.7555C>T" "r.(?)" "p.(Gln2519Ter)" "19" "" "0000972658" "00023950" "90" "7584" "0" "7584" "0" "c.7584C>G" "r.(?)" "p.(Tyr2528Ter)" "19" "" "0000972659" "00023950" "90" "7603" "0" "7698" "0" "c.7603_7698del" "r.(?)" "p.(Tyr2535_Leu2566del)" "19" "" "0000972660" "00023950" "90" "7622" "0" "7622" "0" "c.7622dup" "r.(?)" "p.(Arg2544GlnfsTer51)" "19" "" "0000972661" "00023950" "90" "7656" "0" "7656" "0" "c.7656del" "r.(?)" "p.(Val2553TrpfsTer67)" "19" "" "0000972662" "00023950" "90" "7672" "0" "7672" "0" "c.7672dup" "r.(?)" "p.(Gln2558ProfsTer37)" "19" "" "0000972663" "00023950" "90" "7703" "1" "7703" "1" "c.7703+1G>A" "r.spl" "p.?" "" "" "0000972664" "00023950" "90" "7730" "0" "7737" "0" "c.7730_7737del" "r.(?)" "p.(Pro2577GlnfsTer15)" "20" "" "0000972665" "00023950" "90" "7750" "0" "7750" "0" "c.7750del" "r.(?)" "p.(Leu2584SerfsTer36)" "20" "" "0000972666" "00023950" "90" "7804" "0" "7804" "0" "c.7804C>T" "r.(?)" "p.(Gln2602Ter)" "20" "" "0000972667" "00023950" "90" "7821" "0" "7825" "0" "c.7821_7825del" "r.(?)" "p.(Val2608ArgfsTer51)" "20" "" "0000972668" "00023950" "90" "7833" "0" "7833" "0" "c.7833C>G" "r.(?)" "p.(Tyr2611Ter)" "20" "" "0000972669" "00023950" "90" "7863" "1" "7863" "1" "c.7863+1G>T" "r.spl" "p.?" "" "" "0000972670" "00023950" "90" "7864" "-1" "7864" "-1" "c.7864-1G>T" "r.spl" "p.?" "" "" "0000972671" "00023950" "90" "7866" "0" "7866" "0" "c.7866C>A" "r.(?)" "p.(Tyr2622Ter)" "21" "" "0000972672" "00023950" "90" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639Ter)" "21" "" "0000972673" "00023950" "90" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639Ter)" "21" "" "0000972674" "00023950" "90" "7976" "0" "7976" "0" "c.7976dup" "r.(?)" "p.(Asp2659GlufsTer2)" "21" "" "0000972675" "00023950" "90" "7987" "0" "7987" "0" "c.7987C>T" "r.(?)" "p.(Gln2663Ter)" "21" "" "0000972676" "00023950" "90" "8008" "0" "8008" "0" "c.8008C>T" "r.(?)" "p.(Gln2670Ter)" "21" "" "0000972677" "00023950" "90" "8017" "-1" "8017" "-1" "c.8017-1G>C" "r.spl" "p.?" "" "" "0000972678" "00023950" "90" "8017" "-2" "8017" "-1" "c.8017-2_8017-1del" "r.spl" "p.?" "" "" "0000972679" "00023950" "90" "8017" "-2" "8017" "-2" "c.8017-2A>G" "r.spl" "p.?" "" "" "0000972680" "00023950" "90" "8070" "0" "8070" "0" "c.8070del" "r.(?)" "p.(Lys2690AsnfsTer5)" "22" "" "0000972681" "00023950" "90" "8162" "-1" "8197" "0" "c.8162-1_8197dup" "r.spl" "p.(Ala2733GlyfsTer101)" "21i_22" "" "0000972682" "00023950" "90" "8203" "0" "8203" "0" "c.8203C>T" "r.(?)" "p.(Gln2735Ter)" "23" "" "0000972683" "00023950" "90" "8257" "0" "8260" "0" "c.8257_8260del" "r.(?)" "p.(Tyr2753ThrfsTer2)" "23" "" "0000972684" "00023950" "90" "8308" "0" "8311" "0" "c.8308_8311delinsCTCGTT" "r.(?)" "p.(Asn2770LeufsTer6)" "23" "" "0000972685" "00023950" "90" "8308" "0" "8311" "0" "c.8308_8311delinsCTCGTT" "r.(?)" "p.(Asn2770LeufsTer6)" "23" "" "0000972686" "00023950" "90" "8308" "0" "8311" "0" "c.8308_8311delinsCTCGTT" "r.(?)" "p.(Asn2770LeufsTer6)" "23" "" "0000972687" "00023950" "90" "8308" "0" "8311" "0" "c.8308_8311delinsCTCGTT" "r.(?)" "p.(Asn2770LeufsTer6)" "23" "" "0000972688" "00023950" "90" "8308" "0" "8311" "0" "c.8308_8311delinsCTCGTT" "r.(?)" "p.(Asn2770LeufsTer6)" "23" "" "0000972689" "00023950" "90" "8320" "0" "8321" "0" "c.8320_8321del" "r.(?)" "p.(Leu2774AspfsTer47)" "23" "" "0000972690" "00023950" "90" "8320" "0" "8321" "0" "c.8320_8321del" "r.(?)" "p.(Leu2774AspfsTer47)" "23" "" "0000972691" "00023950" "90" "8350" "0" "8350" "0" "c.8350C>T" "r.(?)" "p.(Gln2784Ter)" "23" "" "0000972692" "00023950" "90" "8560" "0" "8560" "0" "c.8560C>T" "r.(?)" "p.(Gln2854Ter)" "23" "" "0000972693" "00023950" "90" "8560" "0" "8560" "0" "c.8560C>T" "r.(?)" "p.(Gln2854Ter)" "23" "" "0000972694" "00023950" "90" "8586" "0" "8586" "0" "c.8586del" "r.(?)" "p.(Ile2863SerfsTer12)" "23" "" "0000972695" "00023950" "90" "8603" "0" "8603" "0" "c.8603C>A" "r.(?)" "p.(Ser2868Ter)" "23" "" "0000972696" "00023950" "90" "8679" "0" "8679" "0" "c.8679del" "r.(?)" "p.(Ala2894ProfsTer100)" "23" "" "0000972697" "00023950" "90" "8698" "0" "8698" "0" "c.8698C>T" "r.(?)" "p.(Gln2900Ter)" "23" "" "0000972698" "00023950" "90" "8799" "0" "8799" "0" "c.8799C>G" "r.(?)" "p.(Tyr2933Ter)" "24" "" "0000972699" "00023950" "90" "8905" "0" "8905" "0" "c.8905C>T" "r.(?)" "p.(Gln2969Ter)" "24" "" "0000972700" "00023950" "90" "8972" "0" "8972" "0" "c.8972dup" "r.(?)" "p.(Tyr2991Ter)" "25" "" "0000972701" "00023950" "90" "9002" "0" "9002" "0" "c.9002G>A" "r.(?)" "p.(Trp3001Ter)" "25" "" "0000972702" "00023950" "90" "9022" "0" "9039" "0" "c.9022_9039dup" "r.(?)" "p.(Val3008_Ser3013dup)" "25" "" "0000972703" "00023950" "90" "9127" "0" "9127" "0" "c.9127del" "r.(?)" "p.(Cys3043AlafsTer31)" "25" "" "0000972704" "00023950" "90" "9201" "1" "9201" "1" "c.9201+1G>C" "r.spl" "p.?" "" "" "0000972705" "00023950" "90" "9201" "1" "9201" "1" "c.9201+1G>T" "r.spl" "p.?" "" "" "0000972706" "00023950" "90" "9202" "-2" "9202" "-2" "c.9202-2A>G" "r.spl" "p.?" "" "" "0000972707" "00023950" "90" "9214" "0" "9214" "0" "c.9214del" "r.(?)" "p.(Asp3072MetfsTer2)" "26" "" "0000972708" "00023950" "90" "9240" "0" "9241" "0" "c.9240_9241del" "r.(?)" "p.(Ala3082CysfsTer96)" "26" "" "0000972709" "00023950" "90" "9240" "0" "9241" "0" "c.9240_9241del" "r.(?)" "p.(Ala3082CysfsTer96)" "26" "" "0000972710" "00023950" "90" "9283" "0" "9293" "0" "c.9283_9293del" "r.(?)" "p.(Leu3095GlyfsTer80)" "26" "" "0000972711" "00023950" "90" "9317" "0" "9317" "0" "c.9317dup" "r.(?)" "p.(Arg3107ProfsTer72)" "26" "" "0000972712" "00023950" "90" "9547" "0" "9547" "0" "c.9547C>T" "r.(?)" "p.(Arg3183Ter)" "27" "" "0000972713" "00023950" "90" "9547" "0" "9547" "0" "c.9547C>T" "r.(?)" "p.(Arg3183Ter)" "27" "" "0000972714" "00023950" "90" "9547" "0" "9547" "0" "c.9547del" "r.(?)" "p.(Arg3183GlufsTer133)" "27" "" "0000972715" "00023950" "90" "9555" "0" "9555" "0" "c.9555G>A" "r.(?)" "p.(Trp3185Ter)" "27" "" "0000972716" "00023950" "90" "9555" "0" "9555" "0" "c.9555G>A" "r.(?)" "p.(Trp3185Ter)" "27" "" "0000972717" "00023950" "90" "9592" "0" "9592" "0" "c.9592C>T" "r.(?)" "p.(Gln3198Ter)" "28" "" "0000972718" "00023950" "90" "9616" "0" "9616" "0" "c.9616C>T" "r.(?)" "p.(Gln3206Ter)" "28" "" "0000972719" "00023950" "90" "9658" "0" "9658" "0" "c.9658del" "r.(?)" "p.(Ser3220ArgfsTer96)" "28" "" "0000972720" "00023950" "90" "9893" "0" "9893" "0" "c.9893G>A" "r.(?)" "p.(Trp3298Ter)" "29" "" "0000972721" "00023950" "90" "10050" "1" "10050" "1" "c.10050+1G>A" "r.spl" "p.?" "" "" "0000972722" "00023950" "90" "10084" "0" "10084" "0" "c.10084C>T" "r.(?)" "p.(Gln3362Ter)" "31" "" "0000972723" "00023950" "90" "10168" "0" "10168" "0" "c.10168C>T" "r.(?)" "p.(Gln3390Ter)" "32" "" "0000972724" "00023950" "90" "10179" "0" "10179" "0" "c.10179dup" "r.(?)" "p.(Gly3394TrpfsTer6)" "32" "" "0000972725" "00023950" "90" "10335" "0" "10335" "0" "c.10335del" "r.(?)" "p.(Leu3446TrpfsTer27)" "33" "" "0000972726" "00023950" "90" "10343" "0" "10343" "0" "c.10343del" "r.(?)" "p.(Pro3448GlnfsTer25)" "33" "" "0000972727" "00023950" "90" "10345" "0" "10406" "-24" "c.10345_10406-24del" "r.spl" "p.(p.Glu3449MetfsTer4)" "32i" "" "0000972728" "00023950" "90" "10374" "0" "10374" "0" "c.10374dup" "r.(?)" "p.(Tyr3459LeufsTer12)" "33" "" "0000972729" "00023950" "90" "10405" "1" "10405" "1" "c.10405+1G>T" "r.spl" "p.?" "" "" "0000972730" "00023950" "90" "10423" "0" "10423" "0" "c.10423C>T" "r.(?)" "p.(Gln3475Ter)" "34" "" "0000972731" "00023950" "90" "10440" "0" "10441" "0" "c.10440_10441dup" "r.(?)" "p.(Val3481GlyfsTer47)" "34" "" "0000972732" "00023950" "90" "10441" "0" "10441" "0" "c.10441dup" "r.(?)" "p.(Val3481GlyfsTer146)" "34" "" "0000972733" "00023950" "90" "10500" "-1" "10500" "-1" "c.10500-1G>A" "r.spl" "p.?" "" "" "0000972734" "00023950" "90" "10540" "0" "10540" "0" "c.10540C>T" "r.(?)" "p.(Gln3514Ter)" "35" "" "0000972735" "00023950" "90" "10540" "0" "10540" "0" "c.10540C>T" "r.(?)" "p.(Gln3514Ter)" "35" "" "0000972736" "00023950" "90" "10618" "2" "10618" "2" "c.10618+2T>C" "r.spl" "p.?" "" "" "0000972737" "00023950" "90" "10634" "0" "10637" "0" "c.10634_10637del" "r.(?)" "p.(Leu3545ArgfsTer39)" "36" "" "0000972738" "00023950" "90" "10701" "0" "10720" "0" "c.10701_10720del" "r.(?)" "p.(Ala3569GlyfsTer51)" "36" "" "0000972739" "00023950" "90" "10718" "0" "10718" "0" "c.10718C>G" "r.(?)" "p.(Ser3573Ter)" "36" "" "0000972740" "00023950" "90" "10719" "0" "10720" "0" "c.10719_10720del" "r.(?)" "p.(Gly3574ValfsTer52)" "36" "" "0000972741" "00023950" "90" "10722" "0" "10732" "0" "c.10722_10732del" "r.(?)" "p.(Trp3575GlufsTer48)" "36" "" "0000972742" "00023950" "90" "10745" "0" "10745" "0" "c.10745dup" "r.(?)" "p.(Val3584ArgfsTer43)" "36" "" "0000972743" "00023950" "90" "10745" "0" "10745" "0" "c.10745dup" "r.(?)" "p.(Val3584ArgfsTer43)" "36" "" "0000972744" "00023950" "90" "10745" "0" "10745" "0" "c.10745dup" "r.(?)" "p.(Val3584ArgfsTer43)" "36" "" "0000972745" "00023950" "90" "10789" "0" "10789" "0" "c.10789del" "r.(?)" "p.(Leu3597TrpfsTer10)" "36" "" "0000972746" "00023950" "90" "10796" "0" "10796" "0" "c.10796C>A" "r.(?)" "p.(Ser3599Ter)" "36" "" "0000972747" "00023950" "90" "10833" "0" "10833" "0" "c.10833del" "r.(?)" "p.(Ala3612ProfsTer20)" "37" "" "0000972748" "00023950" "90" "10895" "0" "10898" "0" "c.10895_10898del" "r.(?)" "p.(Glu3632AlafsTer4)" "37" "" "0000972749" "00023950" "90" "10897" "0" "10898" "0" "c.10897_10898del" "r.(?)" "p.(Ser3633ProfsTer88)" "37" "" "0000972750" "00023950" "90" "10966" "0" "10966" "0" "c.10966del" "r.(?)" "p.(Leu3656TrpfsTer28)" "37" "" "0000972751" "00023950" "90" "11004" "0" "11004" "0" "c.11004dup" "r.(?)" "p.(Gly3669TrpfsTer53)" "37" "" "0000972752" "00023950" "90" "11016" "1" "11016" "1" "c.11016+1G>A" "r.spl" "p.?" "" "" "0000972753" "00023950" "90" "11016" "1" "11016" "1" "c.11016+1G>A" "r.spl" "p.?" "" "" "0000972754" "00023950" "90" "11078" "0" "11078" "0" "c.11078dup" "r.(?)" "p.(Cys3694MetfsTer28)" "38" "" "0000972755" "00023950" "90" "11078" "0" "11078" "0" "c.11078dup" "r.(?)" "p.(Cys3694MetfsTer28)" "38" "" "0000972756" "00023950" "90" "11091" "0" "11091" "0" "c.11091del" "r.(?)" "p.(His3697GlnfsTer129)" "38" "" "0000972757" "00023950" "90" "11129" "0" "11142" "0" "c.11129_11142del" "r.(?)" "p.(His3710ProfsTer7)" "38" "" "0000972758" "00023950" "90" "11233" "0" "11247" "0" "c.11233_11247del" "r.(?)" "p.(Gly3745_Leu3749del)" "39" "" "0000972759" "00023950" "90" "11296" "0" "11296" "0" "c.11296delinsCG" "r.(?)" "p.(Val3767GlyfsTer49)" "40" "" "0000972760" "00023950" "90" "11309" "0" "11309" "0" "c.11309dup" "r.(?)" "p.(Cys3770TrpfsTer46)" "40" "" "0000972761" "00023950" "90" "11316" "0" "11317" "0" "c.11316_11317insA" "r.(?)" "p.(Ala3773SerfsTer43)" "40" "" "0000972762" "00023950" "90" "11327" "0" "11353" "0" "c.11327_11353del" "r.(?)" "p.(Phe3776_Gly3784del)" "40" "" "0000972763" "00023950" "90" "11340" "0" "11346" "0" "c.11340_11346dup" "r.(?)" "p.(Val3783LeufsTer35)" "40" "" "0000972764" "00023950" "90" "11344" "0" "11363" "0" "c.11344_11363dup" "r.(?)" "p.(His3789ThrfsTer44)" "40" "" "0000972765" "00023950" "90" "11361" "0" "11361" "0" "c.11361del" "r.(?)" "p.(Pro3788LeufsTer38)" "40" "" "0000972766" "00023950" "90" "11379" "0" "11379" "0" "c.11379del" "r.(?)" "p.(Thr3794ArgfsTer32)" "40" "" "0000972767" "00023950" "90" "11379" "0" "11379" "0" "c.11379del" "r.(?)" "p.(Thr3794ArgfsTer32)" "40" "" "0000972768" "00023950" "90" "11397" "0" "11398" "0" "c.11397_11398del" "r.(?)" "p.(Pro3800GlyfsTer15)" "40" "" "0000972769" "00023950" "90" "11412" "-2" "11412" "-2" "c.11412-2A>T" "r.spl" "p.?" "" "" "0000972770" "00023950" "90" "11418" "0" "11418" "0" "c.11418dup" "r.(?)" "p.(Ser3807ValfsTer9)" "41" "" "0000972771" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821Ter)" "41" "" "0000972772" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821Ter)" "41" "" "0000972773" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821Ter)" "41" "" "0000972774" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821Ter)" "41" "" "0000972775" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821Ter)" "41" "" "0000972776" "00023950" "90" "11482" "0" "11482" "0" "c.11482G>T" "r.(?)" "p.(Glu3828Ter)" "41" "" "0000972777" "00023950" "90" "11537" "1" "11537" "1" "c.11537+1G>T" "r.spl" "p.?" "" "" "0000972778" "00023950" "90" "11538" "-1" "11538" "-1" "c.11538-1G>A" "r.spl" "p.?" "" "" "0000972779" "00023950" "90" "11538" "-2" "11538" "-2" "c.11538-2A>G" "r.spl" "p.?" "" "" "0000972780" "00023950" "90" "11588" "0" "11588" "0" "c.11588dup" "r.(?)" "p.(His3864AlafsTer97)" "42" "" "0000972781" "00023950" "90" "11630" "0" "11630" "0" "c.11630del" "r.(?)" "p.(Gly3877AlafsTer68)" "42" "" "0000972782" "00023950" "90" "11633" "0" "11660" "0" "c.11633_11660dup" "r.(?)" "p.(Phe3888ArgfsTer82)" "42" "" "0000972783" "00023950" "90" "11648" "0" "11660" "0" "c.11648_11660dup" "r.(?)" "p.(Phe3888GlnfsTer77)" "42" "" "0000972784" "00023950" "90" "11745" "0" "11745" "0" "c.11745del" "r.(?)" "p.(Val3916TrpfsTer29)" "43" "" "0000972785" "00023950" "90" "11773" "0" "11773" "0" "c.11773del" "r.(?)" "p.(Glu3925LysfsTer20)" "43" "" "0000972786" "00023950" "90" "11783" "0" "11783" "0" "c.11783G>A" "r.(?)" "p.(Trp3928Ter)" "43" "" "0000972787" "00023950" "90" "11802" "0" "11803" "0" "c.11802_11803del" "r.(?)" "p.(Ala3935LeufsTer25)" "43" "" "0000972788" "00023950" "90" "11911" "0" "11928" "0" "c.11911_11928del" "r.(?)" "p.(Pro3971_Ser3976del)" "43" "" "0000972789" "00023950" "90" "11935" "0" "11935" "0" "c.11935C>T" "r.(?)" "p.(Gln3979Ter)" "43" "" "0000972790" "00023950" "90" "11935" "0" "11935" "0" "c.11935C>T" "r.(?)" "p.(Gln3979Ter)" "43" "" "0000972791" "00023950" "90" "11935" "0" "11935" "0" "c.11935C>T" "r.(?)" "p.(Gln3979Ter)" "43" "" "0000972792" "00023950" "90" "12003" "1" "12003" "1" "c.12003+1G>A" "r.spl" "p.?" "" "" "0000972793" "00023950" "90" "12004" "-2" "12004" "-2" "c.12004-2A>G" "r.spl" "p.?" "" "" "0000972794" "00023950" "90" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004Ter)" "44" "" "0000972795" "00023950" "90" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004Ter)" "44" "" "0000972796" "00023950" "90" "12013" "0" "12013" "0" "c.12013C>T" "r.(?)" "p.(Gln4005Ter)" "44" "" "0000972797" "00023950" "90" "12013" "0" "12013" "0" "c.12013C>T" "r.(?)" "p.(Gln4005Ter)" "44" "" "0000972798" "00023950" "90" "12031" "0" "12031" "0" "c.12031C>T" "r.(?)" "p.(Gln4011Ter)" "44" "" "0000972799" "00023950" "90" "12035" "0" "12035" "0" "c.12035G>A" "r.(?)" "p.(Trp4012Ter)" "44" "" "0000972800" "00023950" "90" "12035" "0" "12035" "0" "c.12035G>A" "r.(?)" "p.(Trp4012Ter)" "44" "" "0000972801" "00023950" "90" "12056" "0" "12056" "0" "c.12056T>G" "r.(?)" "p.(Leu4019Ter)" "44" "" "0000972802" "00023950" "90" "12061" "0" "12061" "0" "c.12061C>T" "r.(?)" "p.(Arg4021Ter)" "44" "" "0000972803" "00023950" "90" "12061" "0" "12061" "0" "c.12061C>T" "r.(?)" "p.(Arg4021Ter)" "44" "" "0000972804" "00023950" "90" "12085" "0" "12121" "0" "c.12085_12121del" "r.(?)" "p.(Val4029ProfsTer157)" "44" "" "0000972805" "00023950" "90" "12085" "0" "12121" "0" "c.12085_12121del" "r.(?)" "p.(Val4029ProfsTer157)" "44" "" "0000972806" "00023950" "90" "12124" "0" "12124" "0" "c.12124C>T" "r.(?)" "p.(Gln4042Ter)" "44" "" "0000972807" "00023950" "90" "12138" "2" "12138" "2" "c.12138+2T>G" "r.spl" "p.?" "" "" "0000972808" "00023950" "90" "12139" "-1" "12139" "-1" "c.12139-1G>A" "r.spl" "p.?" "" "" "0000972809" "00023950" "90" "12178" "0" "12178" "0" "c.12178dup" "r.(?)" "p.(Gln4060ProfsTer97)" "45" "" "0000972810" "00023950" "90" "12215" "0" "12216" "0" "c.12215_12216del" "r.(?)" "p.(Ser4072TyrfsTer84)" "45" "" "0000972811" "00023950" "90" "12224" "0" "12225" "0" "c.12224_12225del" "r.(?)" "p.(Cys4075SerfsTer81)" "45" "" "0000972812" "00023950" "90" "12239" "0" "12239" "0" "c.12239G>A" "r.(?)" "p.(Trp4080Ter)" "45" "" "0000972813" "00023950" "90" "12239" "0" "12239" "0" "c.12239G>A" "r.(?)" "p.(Trp4080Ter)" "45" "" "0000972814" "00023950" "90" "12287" "0" "12287" "0" "c.12287G>A" "r.(?)" "p.(Trp4096Ter)" "45" "" "0000972815" "00023950" "90" "12310" "0" "12313" "0" "c.12310_12313del" "r.(?)" "p.(Val4104PhefsTer93)" "45" "" "0000972816" "00023950" "90" "12381" "0" "12381" "0" "c.12381C>G" "r.(?)" "p.(Tyr4127Ter)" "45" "" "0000972817" "00023950" "90" "12420" "0" "12420" "0" "c.12420G>A" "r.(?)" "p.(Trp4140Ter)" "45" "" "0000972818" "00023950" "90" "12420" "0" "12420" "0" "c.12420G>A" "r.(?)" "p.(Trp4140Ter)" "45" "" "0000972819" "00023950" "90" "12421" "0" "12421" "0" "c.12421dup" "r.(?)" "p.(Met4141AsnfsTer16)" "45" "" "0000972820" "00023950" "90" "12445" "-1" "12445" "-1" "c.12445-1G>A" "r.spl" "p.?" "" "" "0000972821" "00023950" "90" "12530" "0" "12530" "0" "c.12530dup" "r.(?)" "p.(Pro4178ThrfsTer32)" "46" "" "0000972822" "00023950" "90" "12568" "0" "12568" "0" "c.12568dup" "r.(?)" "p.(Ser4190PhefsTer20)" "46" "" "0000972823" "00023950" "90" "12577" "0" "12580" "0" "c.12577_12580dup" "r.(?)" "p.(Leu4194ProfsTer17)" "46" "" "0000972824" "00023950" "90" "12608" "0" "12635" "0" "c.12608_12635del" "r.(?)" "p.(Arg4203ProfsTer146)" "46" "" "0000972825" "00023950" "90" "12608" "0" "12635" "0" "c.12608_12635del" "r.(?)" "p.(Arg4203ProfsTer146)" "46" "" "0000972826" "00023950" "90" "12608" "0" "12635" "0" "c.12608_12635del" "r.(?)" "p.(Arg4203ProfsTer146)" "46" "" "0000972827" "00023950" "90" "12624" "0" "12625" "0" "c.12624_12625del" "r.(?)" "p.(Cys4208Ter)" "46" "" "0000972828" "00023950" "90" "12624" "0" "12624" "0" "c.12624T>A" "r.(?)" "p.(Cys4208Ter)" "46" "" "0000972829" "00023950" "90" "12646" "0" "12646" "0" "c.12646C>T" "r.(?)" "p.(Gln4216Ter)" "46" "" "0000972830" "00023950" "90" "12646" "0" "12646" "0" "c.12646C>T" "r.(?)" "p.(Gln4216Ter)" "46" "" "0000972831" "00023950" "90" "12666" "0" "12666" "0" "c.12666dup" "r.(?)" "p.(Leu4223AlafsTer5)" "46" "" "0000972832" "00023950" "90" "12691" "0" "12691" "0" "c.12691C>T" "r.(?)" "p.(Gln4231Ter)" "46" "" "0000972833" "00023950" "90" "12710" "0" "12710" "0" "c.12710dup" "r.(?)" "p.(Tyr4237Ter)" "46" "" "0000972834" "00023950" "90" "10500" "-1" "13929" "0" "c.(10499+1_10500-1)_(*1017_?)del" "r.?" "p.?" "34i_46_" "" "0000972835" "00023950" "90" "" "0" "" "0" "c.-209_(11269+1_11270-1){0}" "r.0?" "p.0?" "_1_39i" "" "0000972929" "00023950" "70" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Cys51Trp)" "1" "" "0000972930" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "5" "" "0000972931" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "5" "" "0000972932" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "5" "" "0000972933" "00023950" "70" "1609" "0" "1723" "-44" "c.1609_1723-44del" "r.(?)" "p.?" "8" "" "0000972934" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972935" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972936" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972937" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972938" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972939" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972940" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972941" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972942" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000972943" "00023950" "70" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Leu845Ser)" "11" "" "0000972944" "00023950" "70" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Leu845Ser)" "11" "" "0000972945" "00023950" "70" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Ile985_Tyr986delinsAsn)" "12" "" "0000972946" "00023950" "70" "3025" "0" "3027" "0" "c.3025_3027del" "r.(?)" "p.(Tyr1009del)" "13" "" "0000972947" "00023950" "70" "3349" "0" "3351" "0" "c.3349_3351del" "r.(?)" "p.(Gln1117del)" "15" "" "0000972948" "00023950" "70" "3617" "0" "3617" "0" "c.3617T>G" "r.(?)" "p.(Val1206Gly)" "15" "" "0000972949" "00023950" "70" "3617" "0" "3617" "0" "c.3617T>G" "r.(?)" "p.(Val1206Gly)" "15" "" "0000972950" "00023950" "70" "3617" "0" "3617" "0" "c.3617T>G" "r.(?)" "p.(Val1206Gly)" "15" "" "0000972951" "00023950" "70" "3617" "0" "3617" "0" "c.3617T>G" "r.(?)" "p.(Val1206Gly)" "15" "" "0000972952" "00023950" "70" "3719" "0" "3721" "0" "c.3719_3721del" "r.(?)" "p.(Asn1240del)" "15" "" "0000972953" "00023950" "70" "3719" "0" "3721" "0" "c.3719_3721del" "r.(?)" "p.(Asn1240del)" "15" "" "0000972954" "00023950" "70" "4349" "0" "4351" "0" "c.4349_4351del" "r.(?)" "p.(Asn1450del)" "15" "" "0000972955" "00023950" "70" "5180" "0" "5180" "0" "c.5180C>T" "r.(?)" "p.(Pro1727Leu)" "15" "" "0000972956" "00023950" "70" "5608" "0" "5608" "0" "c.5608A>G" "r.(?)" "p.(Asn1870Asp)" "15" "" "0000972957" "00023950" "70" "5976" "0" "5978" "0" "c.5976_5978del" "r.(?)" "p.(Phe1992_Thr1993delinsLeu)" "15" "" "0000972958" "00023950" "70" "6778" "0" "6780" "0" "c.6778_6780del" "r.(?)" "p.(Ile2260del)" "15" "" "0000972959" "00023950" "70" "6778" "0" "6780" "0" "c.6778_6780del" "r.(?)" "p.(Ile2260del)" "15" "" "0000972960" "00023950" "70" "7115" "0" "7115" "0" "c.7115C>G" "r.(?)" "p.(Ser2372Cys)" "17" "" "0000972961" "00023950" "70" "7136" "0" "7136" "0" "c.7136A>G" "r.(?)" "p.(Tyr2379Cys)" "17" "" "0000972962" "00023950" "70" "7136" "0" "7136" "0" "c.7136A>G" "r.(?)" "p.(Tyr2379Cys)" "17" "" "0000972963" "00023950" "70" "7136" "0" "7136" "0" "c.7136A>G" "r.(?)" "p.(Tyr2379Cys)" "17" "" "0000972964" "00023950" "70" "7136" "0" "7136" "0" "c.7136A>G" "r.(?)" "p.(Tyr2379Cys)" "17" "" "0000972965" "00023950" "70" "7265" "0" "7265" "0" "c.7265C>A" "r.(?)" "p.(Thr2422Lys)" "18" "" "0000972966" "00023950" "70" "7543" "0" "7548" "0" "c.7543_7548del" "r.(?)" "p.(Arg2515_Arg2516del)" "19" "" "0000972967" "00023950" "70" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "19" "" "0000972968" "00023950" "70" "7927" "0" "7927" "0" "c.7927C>T" "r.(?)" "p.(Arg2643Cys)" "21" "" "0000972969" "00023950" "70" "8299" "0" "8299" "0" "c.8299C>T" "r.(?)" "p.(Arg2767Cys)" "23" "" "0000972970" "00023950" "70" "8299" "0" "8299" "0" "c.8299C>T" "r.(?)" "p.(Arg2767Cys)" "23" "" "0000972971" "00023950" "70" "8299" "0" "8299" "0" "c.8299C>T" "r.(?)" "p.(Arg2767Cys)" "23" "" "0000972972" "00023950" "70" "8300" "0" "8300" "0" "c.8300G>C" "r.(?)" "p.(Arg2767Pro)" "23" "" "0000972973" "00023950" "70" "8309" "0" "8309" "0" "c.8309A>T" "r.(?)" "p.(Asn2770Ile)" "23" "" "0000972974" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972975" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972976" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972977" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972978" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972979" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972980" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972981" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972982" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972983" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "23" "" "0000972984" "00023950" "70" "8321" "0" "8321" "0" "c.8321T>C" "r.(?)" "p.(Leu2774Pro)" "23" "" "0000972985" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000972986" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000972987" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000972988" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000972989" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000972990" "00023950" "70" "8475" "0" "8476" "0" "c.8475_8476insGCT" "r.(?)" "p.(Leu2825_Ile2826insAla)" "23" "" "0000972991" "00023950" "70" "8557" "0" "8562" "0" "c.8557_8562del" "r.(?)" "p.(Phe2853_Gln2854del)" "23" "" "0000972992" "00023950" "70" "8557" "0" "8562" "0" "c.8557_8562del" "r.(?)" "p.(Phe2853_Gln2854del)" "23" "" "0000972993" "00023950" "70" "8932" "0" "8933" "0" "c.8932_8933delinsAC" "r.(?)" "p.(Phe2978Thr)" "24" "" "0000972994" "00023950" "70" "8984" "0" "8984" "0" "c.8984T>G" "r.(?)" "p.(Leu2995Arg)" "25" "" "0000972995" "00023950" "70" "9377" "0" "9377" "0" "c.9377C>T" "r.(?)" "p.(Thr3126Ile)" "26" "" "0000972996" "00023950" "70" "9377" "0" "9377" "0" "c.9377C>T" "r.(?)" "p.(Thr3126Ile)" "26" "" "0000972997" "00023950" "70" "9431" "0" "9431" "0" "c.9431G>A" "r.(?)" "p.(Gly3144Glu)" "27" "" "0000972998" "00023950" "70" "9543" "0" "9543" "0" "c.9543G>C" "r.(?)" "p.(Lys3181Asn)" "27" "" "0000972999" "00023950" "70" "9564" "0" "9566" "0" "c.9564_9566del" "r.(?)" "p.(Asn3188del)" "27" "" "0000973000" "00023950" "70" "9564" "0" "9566" "0" "c.9564_9566del" "r.(?)" "p.(Asn3188del)" "27" "" "0000973001" "00023950" "70" "9578" "0" "9578" "0" "c.9578C>T" "r.(?)" "p.(Pro3193Leu)" "28" "" "0000973002" "00023950" "70" "10167" "25" "10167" "43" "c.10167+25_10167+43del" "r.spl" "p.?" "" "" "0000973003" "00023950" "70" "10167" "25" "10167" "43" "c.10167+25_10167+43del" "r.spl" "p.?" "" "" "0000973004" "00023950" "70" "10693" "0" "10696" "0" "c.10693_10696delinsA" "r.(?)" "p.(Leu3565_Val3566delinsMet)" "36" "" "0000973005" "00023950" "70" "10951" "0" "10951" "0" "c.10951G>A" "r.(?)" "p.(Gly3651Ser)" "37" "" "0000973006" "00023950" "70" "10951" "0" "10951" "0" "c.10951G>A" "r.(?)" "p.(Gly3651Ser)" "37" "" "0000973007" "00023950" "70" "10951" "0" "10951" "0" "c.10951G>A" "r.(?)" "p.(Gly3651Ser)" "37" "" "0000973008" "00023950" "70" "10951" "0" "10951" "0" "c.10951G>A" "r.(?)" "p.(Gly3651Ser)" "37" "" "0000973009" "00023950" "70" "10958" "0" "10958" "0" "c.10958C>T" "r.(?)" "p.(Ala3653Val)" "37" "" "0000973010" "00023950" "70" "10958" "0" "10958" "0" "c.10958C>T" "r.(?)" "p.(Ala3653Val)" "37" "" "0000973011" "00023950" "70" "11017" "-10" "11017" "-10" "c.11017-10C>A" "r.spl" "p.?" "" "" "0000973012" "00023950" "70" "11156" "0" "11156" "0" "c.11156G>A" "r.(?)" "p.(Arg3719Gln)" "38" "" "0000973013" "00023950" "70" "11204" "0" "11209" "0" "c.11204_11209del" "r.(?)" "p.(Val3735_His3736del)" "39" "" "0000973014" "00023950" "70" "11246" "0" "11248" "0" "c.11246_11248del" "r.(?)" "p.(Leu3749del)" "39" "" "0000973015" "00023950" "70" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "39" "" "0000973016" "00023950" "70" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "39" "" "0000973017" "00023950" "70" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "39" "" "0000973018" "00023950" "70" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "39" "" "0000973019" "00023950" "70" "11258" "0" "11258" "0" "c.11258G>A" "r.(?)" "p.(Arg3753Gln)" "39" "" "0000973020" "00023950" "70" "11249" "0" "11250" "0" "c.11249_11250delinsAA" "r.(?)" "p.(Arg3750Gln)" "39" "" "0000973021" "00023950" "70" "11249" "0" "11250" "0" "c.11249_11250delinsAA" "r.(?)" "p.(Arg3750Gln)" "39" "" "0000973022" "00023950" "70" "11249" "0" "11250" "0" "c.11249_11250delinsAA" "r.(?)" "p.(Arg3750Gln)" "39" "" "0000973023" "00023950" "70" "11345" "0" "11347" "0" "c.11345_11347del" "r.(?)" "p.(Asp3782del)" "40" "" "0000973024" "00023950" "70" "11614" "0" "11614" "0" "c.11614G>C" "r.(?)" "p.(Glu3872Gln)" "42" "" "0000973025" "00023950" "70" "11614" "0" "11614" "0" "c.11614G>C" "r.(?)" "p.(Glu3872Gln)" "42" "" "0000973026" "00023950" "70" "12389" "0" "12391" "0" "c.12389_12391del" "r.(?)" "p.(Val4130del)" "45" "" "0000973027" "00023950" "70" "12445" "-5" "12451" "0" "c.12445-5_12451dup" "r.spl" "p.(Arg4150_His4151insProGlnPheArg)" "45i_46" "" "0000973028" "00023950" "70" "12448" "0" "12448" "0" "c.12448C>T" "r.(?)" "p.(Arg4150Cys)" "46" "" "0000973029" "00023950" "70" "12448" "0" "12448" "0" "c.12448C>T" "r.(?)" "p.(Arg4150Cys)" "46" "" "0000973030" "00023950" "70" "12448" "0" "12448" "0" "c.12448C>T" "r.(?)" "p.(Arg4150Cys)" "46" "" "0000973031" "00023950" "70" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "" "0000973032" "00023950" "70" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "" "0000973033" "00023950" "70" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "" "0000973034" "00023950" "70" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "" "0000973035" "00023950" "70" "12826" "0" "12826" "0" "c.12826C>T" "r.(?)" "p.(Arg4276Trp)" "46" "" "0000973042" "00023950" "70" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Ile120Thr)" "3" "" "0000973043" "00023950" "70" "385" "0" "385" "0" "c.385T>C" "r.(?)" "p.(Cys129Arg)" "4" "" "0000973044" "00023950" "70" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Cys155Tyr)" "4" "" "0000973045" "00023950" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Cys183Tyr)" "5" "" "0000973046" "00023950" "70" "1576" "0" "1576" "0" "c.1576C>G" "r.(?)" "p.(His526Asp)" "7" "" "0000973047" "00023950" "70" "1730" "0" "1730" "0" "c.1730T>G" "r.(?)" "p.(Val577Gly)" "9" "" "0000973048" "00023950" "70" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Trp)" "9" "" "0000973049" "00023950" "70" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Trp)" "9" "" "0000973050" "00023950" "70" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Trp)" "9" "" "0000973051" "00023950" "70" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Glu685Lys)" "10" "" "0000973052" "00023950" "70" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Tyr698Asp)" "10" "" "0000973053" "00023950" "70" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Tyr698Asp)" "10" "" "0000973054" "00023950" "70" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Tyr698Asp)" "10" "" "0000973055" "00023950" "70" "2092" "0" "2092" "0" "c.2092T>G" "r.(?)" "p.(Tyr698Asp)" "10" "" "0000973056" "00023950" "70" "3296" "-3" "3296" "-3" "c.3296-3C>G" "r.spl" "p.?" "" "" "0000973057" "00023950" "70" "3722" "0" "3722" "0" "c.3722T>A" "r.(?)" "p.(Ile1241Asn)" "15" "" "0000973058" "00023950" "70" "4379" "0" "4379" "0" "c.4379T>G" "r.(?)" "p.(Val1460Gly)" "15" "" "0000973059" "00023950" "70" "4550" "0" "4550" "0" "c.4550A>G" "r.(?)" "p.(Tyr1517Cys)" "15" "" "0000973060" "00023950" "70" "4550" "0" "4550" "0" "c.4550A>G" "r.(?)" "p.(Tyr1517Cys)" "15" "" "0000973061" "00023950" "70" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "15" "" "0000973062" "00023950" "70" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166Cys)" "15" "" "0000973063" "00023950" "70" "6559" "0" "6559" "0" "c.6559T>C" "r.(?)" "p.(Trp2187Arg)" "15" "" "0000973064" "00023950" "70" "6845" "0" "6845" "0" "c.6845A>G" "r.(?)" "p.(Tyr2282Cys)" "15" "" "0000973065" "00023950" "70" "6892" "0" "6892" "0" "c.6892T>G" "r.(?)" "p.(Trp2298Gly)" "15" "" "0000973066" "00023950" "70" "6985" "0" "6985" "0" "c.6985C>T" "r.(?)" "p.(Arg2329Trp)" "16" "" "0000973067" "00023950" "70" "7066" "-17" "7066" "-9" "c.7066-17_7066-9del" "r.spl" "p.?" "" "" "0000973068" "00023950" "70" "7172" "0" "7172" "0" "c.7172G>A" "r.(?)" "p.(Gly2391Asp)" "17" "" "0000973069" "00023950" "70" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "18" "" "0000973070" "00023950" "70" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "18" "" "0000973071" "00023950" "70" "7376" "0" "7376" "0" "c.7376G>A" "r.(?)" "p.(Gly2459Asp)" "18" "" "0000973072" "00023950" "70" "7426" "0" "7426" "0" "c.7426T>A" "r.(?)" "p.(Cys2476Ser)" "18" "" "0000973073" "00023950" "70" "7483" "0" "7483" "0" "c.7483T>C" "r.(?)" "p.(Cys2495Arg)" "18" "" "0000973074" "00023950" "70" "8447" "0" "8447" "0" "c.8447T>C" "r.(?)" "p.(Leu2816Pro)" "23" "" "0000973075" "00023950" "70" "8930" "0" "8930" "0" "c.8930C>T" "r.(?)" "p.(Thr2977Ile)" "24" "" "0000973076" "00023950" "70" "9154" "0" "9154" "0" "c.9154G>C" "r.(?)" "p.(Gly3052Arg)" "25" "" "0000973077" "00023950" "70" "9412" "0" "9412" "0" "c.9412G>A" "r.(?)" "p.(Val3138Met)" "27" "" "0000973078" "00023950" "70" "9430" "0" "9430" "0" "c.9430G>T" "r.(?)" "p.(Gly3144Trp)" "27" "" "0000973079" "00023950" "70" "9485" "0" "9485" "0" "c.9485G>T" "r.(?)" "p.(Arg3162Leu)" "27" "" "0000973080" "00023950" "70" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "29" "" "0000973081" "00023950" "70" "9924" "-3" "9924" "-3" "c.9924-3C>G" "r.spl" "p.?" "" "" "0000973082" "00023950" "70" "10952" "0" "10952" "0" "c.10952G>A" "r.(?)" "p.(Gly3651Asp)" "37" "" "0000973083" "00023950" "70" "10970" "0" "10970" "0" "c.10970C>A" "r.(?)" "p.(Ala3657Asp)" "37" "" "0000973084" "00023950" "70" "11249" "0" "11249" "0" "c.11249G>A" "r.(?)" "p.(Arg3750Gln)" "39" "" "0000973085" "00023950" "70" "11468" "0" "11468" "0" "c.11468T>C" "r.(?)" "p.(Leu3823Pro)" "41" "" "0000973086" "00023950" "70" "12138" "3" "12138" "6" "c.12138+3_12138+6del" "r.spl" "p.?" "" "" "0000973087" "00023950" "70" "11251" "0" "11251" "0" "c.11251C>A" "r.(?)" "p.(Gln3751Lys)" "5" "" "0000973091" "00023950" "70" "9361" "0" "9361" "0" "c.9361G>A" "r.(?)" "p.(Glu3121Lys)" "26" "" "0000973092" "00023950" "70" "10043" "0" "10043" "0" "c.10043G>A" "r.(?)" "p.(Arg3348Gln)" "30" "" "0000973093" "00023950" "70" "11204" "0" "11204" "0" "c.11204T>A" "r.(?)" "p.(Val3735Asp)" "39" "" "0000973094" "00023950" "70" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ser225Leu)" "5" "" "0000973095" "00023950" "70" "9898" "0" "9898" "0" "c.9898G>A" "r.(?)" "p.(Gly3300Arg)" "29" "" "0000973096" "00023950" "70" "6643" "0" "6643" "0" "c.6643C>T" "r.(?)" "p.(Arg2215Trp)" "15" "" "0000973097" "00023950" "70" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Cys232Tyr)" "5" "" "0000973098" "00023950" "70" "8537" "0" "8537" "0" "c.8537C>T" "r.(?)" "p.(Thr2846Ile)" "23" "" "0000973099" "00023950" "70" "11711" "0" "11711" "0" "c.11711C>G" "r.(?)" "p.(Ser3904Trp)" "42" "" "0000973100" "00023950" "70" "6892" "0" "6892" "0" "c.6892T>G" "r.(?)" "p.(Trp2298Gly)" "15" "" "0000973101" "00023950" "70" "6382" "0" "6382" "0" "c.6382A>C" "r.(?)" "p.(Asn2128His)" "15" "" "0000973102" "00023950" "70" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "18" "" "0000973103" "00023950" "70" "5998" "0" "5998" "0" "c.5998T>C" "r.(?)" "p.(Ser2000Pro)" "15" "" "0000973104" "00023950" "70" "8933" "0" "8933" "0" "c.8933T>G" "r.(?)" "p.(Phe2978Cys)" "24" "" "0000973105" "00023950" "70" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Gly515Trp)" "7" "" "0000973106" "00023950" "70" "6647" "0" "6647" "0" "c.6647T>A" "r.(?)" "p.(Leu2216Gln)" "15" "" "0000973107" "00023950" "70" "2180" "0" "2180" "0" "c.2180T>C" "r.(?)" "p.(Leu727Pro)" "11" "" "0000973108" "00023950" "70" "5983" "0" "5983" "0" "c.5983C>T" "r.(?)" "p.(Arg1995Cys)" "15" "" "0000973109" "00023950" "70" "5960" "0" "5960" "0" "c.5960G>A" "r.(?)" "p.(Gly1987Asp)" "15" "" "0000973110" "00023950" "70" "9395" "0" "9395" "0" "c.9395C>T" "r.(?)" "p.(Ser3132Leu)" "26" "" "0000973111" "00023950" "70" "5936" "0" "5936" "0" "c.5936G>A" "r.(?)" "p.(Cys1979Tyr)" "15" "" "0000973112" "00023950" "70" "5180" "0" "5180" "0" "c.5180C>T" "r.(?)" "p.(Pro1727Leu)" "15" "" "0000973113" "00023950" "70" "11258" "0" "11258" "0" "c.11258G>A" "r.(?)" "p.(Arg3753Gln)" "39" "" "0000973114" "00023950" "70" "9577" "0" "9577" "0" "c.9577C>T" "r.(?)" "p.(Pro3193Ser)" "28" "" "0000973115" "00023950" "70" "3617" "0" "3617" "0" "c.3617T>G" "r.(?)" "p.(Val1206Gly)" "15" "" "0000973116" "00023950" "70" "7546" "0" "7546" "0" "c.7546C>T" "r.(?)" "p.(Arg2516Cys)" "19" "" "0000973117" "00023950" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "39" "" "0000981682" "00023950" "30" "57987" "0" "57987" "0" "c.*45075T>C" "r.(=)" "p.(=)" "" "" "0000981684" "00023950" "10" "56256" "0" "56256" "0" "c.*43344C>T" "r.(=)" "p.(=)" "" "" "0000981688" "00023950" "30" "47133" "0" "47133" "0" "c.*34221C>T" "r.(=)" "p.(=)" "" "" "0000981689" "00023950" "30" "47099" "0" "47099" "0" "c.*34187G>C" "r.(=)" "p.(=)" "" "" "0000981690" "00023950" "50" "46732" "0" "46733" "0" "c.*33820_*33821insA" "r.(=)" "p.(=)" "" "" "0000981692" "00023950" "30" "41930" "0" "41930" "0" "c.*29018C>T" "r.(=)" "p.(=)" "" "" "0000981693" "00023950" "30" "41875" "0" "41875" "0" "c.*28963G>A" "r.(=)" "p.(=)" "" "" "0000981694" "00023950" "30" "41817" "0" "41817" "0" "c.*28905C>G" "r.(=)" "p.(=)" "" "" "0000981695" "00023950" "30" "40124" "0" "40124" "0" "c.*27212G>A" "r.(=)" "p.(=)" "" "" "0000981696" "00023950" "30" "39672" "0" "39672" "0" "c.*26760G>A" "r.(=)" "p.(=)" "" "" "0000981697" "00023950" "50" "37062" "0" "37062" "0" "c.*24150T>C" "r.(=)" "p.(=)" "" "" "0000981700" "00023950" "30" "30829" "0" "30829" "0" "c.*17917T>G" "r.(=)" "p.(=)" "" "" "0000981701" "00023950" "30" "30248" "0" "30248" "0" "c.*17336del" "r.(?)" "p.(=)" "" "" "0000981702" "00023950" "30" "28368" "0" "28368" "0" "c.*15456G>A" "r.(=)" "p.(=)" "" "" "0000981703" "00023950" "30" "26821" "0" "26821" "0" "c.*13909G>A" "r.(=)" "p.(=)" "" "" "0000981704" "00023950" "30" "26803" "0" "26803" "0" "c.*13891G>A" "r.(=)" "p.(=)" "" "" "0000981705" "00023950" "70" "26497" "0" "26497" "0" "c.*13585C>T" "r.(=)" "p.(=)" "" "" "0000981706" "00023950" "50" "26057" "0" "26057" "0" "c.*13145T>C" "r.(=)" "p.(=)" "" "" "0000981707" "00023950" "30" "24916" "0" "24916" "0" "c.*12004C>G" "r.(=)" "p.(=)" "" "" "0000981708" "00023950" "30" "22253" "0" "22253" "0" "c.*9341G>A" "r.(=)" "p.(=)" "" "" "0000981709" "00023950" "30" "18913" "0" "18913" "0" "c.*6001C>T" "r.(=)" "p.(=)" "" "" "0000981710" "00023950" "30" "18312" "0" "18312" "0" "c.*5400G>A" "r.(=)" "p.(=)" "" "" "0000981711" "00023950" "30" "18281" "0" "18281" "0" "c.*5369G>A" "r.(=)" "p.(=)" "" "" "0000981712" "00023950" "50" "18104" "0" "18104" "0" "c.*5192C>T" "r.(=)" "p.(=)" "" "" "0000981713" "00023950" "90" "16426" "0" "16426" "0" "c.*3514del" "r.(?)" "p.(=)" "" "" "0000981714" "00023950" "30" "16314" "0" "16314" "0" "c.*3402C>T" "r.(=)" "p.(=)" "" "" "0000981715" "00023950" "10" "15774" "0" "15774" "0" "c.*2862G>A" "r.(=)" "p.(=)" "" "" "0000981716" "00023950" "30" "12486" "0" "12486" "0" "c.12486C>A" "r.(?)" "p.(=)" "" "" "0000981717" "00023950" "70" "12366" "0" "12366" "0" "c.12366G>A" "r.(?)" "p.(Trp4122*)" "" "" "0000981718" "00023950" "30" "12162" "0" "12162" "0" "c.12162C>T" "r.(?)" "p.(Ser4054=)" "" "" "0000981719" "00023950" "30" "12004" "-17" "12004" "-17" "c.12004-17A>G" "r.(=)" "p.(=)" "" "" "0000981720" "00023950" "30" "11787" "0" "11787" "0" "c.11787C>T" "r.(?)" "p.(=)" "" "" "0000981721" "00023950" "70" "11249" "0" "11249" "0" "c.11249G>A" "r.(?)" "p.(Arg3750Gln)" "" "" "0000981722" "00023950" "50" "11155" "0" "11155" "0" "c.11155C>T" "r.(?)" "p.(Arg3719Trp)" "" "" "0000981723" "00023950" "50" "10972" "0" "10972" "0" "c.10972A>G" "r.(?)" "p.(Lys3658Glu)" "" "" "0000981724" "00023950" "70" "10965" "0" "10965" "0" "c.10965C>A" "r.(?)" "p.(Phe3655Leu)" "" "" "0000981725" "00023950" "70" "10964" "0" "10964" "0" "c.10964T>A" "r.(?)" "p.(Phe3655Tyr)" "" "" "0000981726" "00023950" "70" "10952" "0" "10952" "0" "c.10952G>A" "r.(?)" "p.(Gly3651Asp)" "" "" "0000981727" "00023950" "10" "10822" "-14" "10822" "-14" "c.10822-14C>T" "r.(=)" "p.(=)" "" "" "0000981728" "00023950" "50" "10637" "0" "10637" "0" "c.10637G>A" "r.(?)" "p.(Arg3546Gln)" "" "" "0000981729" "00023950" "10" "10368" "0" "10368" "0" "c.10368C>T" "r.(?)" "p.(Ala3456=)" "" "" "0000981730" "00023950" "30" "10080" "0" "10080" "0" "c.10080C>T" "r.(?)" "p.(Ala3360=)" "" "" "0000981731" "00023950" "50" "9688" "0" "9688" "0" "c.9688G>A" "r.(?)" "p.(Val3230Met)" "" "" "0000981732" "00023950" "50" "9535" "0" "9535" "0" "c.9535G>A" "r.(?)" "p.(Val3179Met)" "" "" "0000981733" "00023950" "50" "9416" "0" "9416" "0" "c.9416G>T" "r.(?)" "p.(Gly3139Val)" "" "" "0000981734" "00023950" "70" "9202" "-16" "9202" "-16" "c.9202-16G>A" "r.(=)" "p.(=)" "" "" "0000981735" "00023950" "50" "9115" "0" "9115" "0" "c.9115C>A" "r.(?)" "p.(Arg3039Ser)" "" "" "0000981736" "00023950" "90" "8806" "0" "8806" "0" "c.8806G>T" "r.(?)" "p.(Glu2936*)" "" "" "0000981737" "00023950" "30" "8669" "0" "8670" "0" "c.8669_8670insTGCCAACTC" "r.(?)" "p.(Ala2894_Ser2896dup)" "" "" "0000981738" "00023950" "50" "8636" "0" "8636" "0" "c.8636A>G" "r.(?)" "p.(Asn2879Ser)" "" "" "0000981739" "00023950" "50" "8575" "0" "8575" "0" "c.8575G>A" "r.(?)" "p.(Ala2859Thr)" "" "" "0000981740" "00023950" "30" "8267" "0" "8267" "0" "c.8267C>T" "r.(?)" "p.(Thr2756Ile)" "" "" "0000981741" "00023950" "70" "8186" "0" "8190" "0" "c.8186_8190dup" "r.(?)" "p.(Val2731Argfs*27)" "" "" "0000981742" "00023950" "30" "8042" "0" "8042" "0" "c.8042G>A" "r.(?)" "p.(Arg2681His)" "" "" "0000981743" "00023950" "30" "8042" "0" "8042" "0" "c.8042G>A" "r.(?)" "p.(Arg2681His)" "" "" "0000981744" "00023950" "30" "7605" "0" "7605" "0" "c.7605C>T" "r.(?)" "p.(Tyr2535=)" "" "" "0000981745" "00023950" "50" "7084" "0" "7084" "0" "c.7084C>T" "r.(?)" "p.(Arg2362Trp)" "" "" "0000981746" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000dup" "r.(?)" "p.(Val2334Glyfs*88)" "" "" "0000981747" "00023950" "50" "6893" "0" "6893" "0" "c.6893G>C" "r.(?)" "p.(Trp2298Ser)" "" "" "0000981748" "00023950" "30" "6792" "0" "6792" "0" "c.6792A>C" "r.(?)" "p.(Ser2264=)" "" "" "0000981749" "00023950" "30" "6210" "0" "6210" "0" "c.6210C>T" "r.(?)" "p.(=)" "" "" "0000981750" "00023950" "30" "5526" "0" "5526" "0" "c.5526C>T" "r.(?)" "p.(=)" "" "" "0000981751" "00023950" "90" "4797" "0" "4797" "0" "c.4797C>A" "r.(?)" "p.(Tyr1599*)" "" "" "0000981752" "00023950" "70" "4388" "0" "4388" "0" "c.4388A>C" "r.(?)" "p.(Gln1463Pro)" "" "" "0000981753" "00023950" "30" "4051" "0" "4051" "0" "c.4051C>T" "r.(?)" "p.(Arg1351Trp)" "" "" "0000981754" "00023950" "90" "3607" "0" "3607" "0" "c.3607C>T" "r.(?)" "p.(Gln1203*)" "" "" "0000981755" "00023950" "50" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Gly1099Asp)" "" "" "0000981756" "00023950" "70" "3278" "0" "3281" "0" "c.3278_3281dup" "r.(?)" "p.(Tyr1095Hisfs*7)" "" "" "0000981757" "00023950" "30" "3228" "0" "3228" "0" "c.3228G>A" "r.(?)" "p.(Pro1076=)" "" "" "0000981758" "00023950" "30" "2707" "0" "2707" "0" "c.2707A>G" "r.(?)" "p.(Ser903Gly)" "" "" "0000981759" "00023950" "30" "2707" "0" "2707" "0" "c.2707A>G" "r.(?)" "p.(Ser903Gly)" "" "" "0000981760" "00023950" "30" "2322" "0" "2322" "0" "c.2322C>T" "r.(?)" "p.(Ala774=)" "" "" "0000981761" "00023950" "70" "1938" "0" "1938" "0" "c.1938G>A" "r.(?)" "p.(Trp646*)" "" "" "0000981762" "00023950" "70" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611Trp)" "" "" "0000981763" "00023950" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(=)" "" "" "0000981764" "00023950" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "" "" "0000981765" "00023950" "90" "359" "1" "359" "1" "c.359+1G>A" "r.spl?" "p.?" "" "" "0000981766" "00023950" "30" "288" "-20" "288" "-20" "c.288-20G>A" "r.(=)" "p.(=)" "" "" "0000981769" "00023950" "50" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Pro41Leu)" "" "" "0000987744" "00023950" "90" "9923" "0" "9923" "1" "c.9923_9923+1insAGTCTGTAGGCGACTCTGCCTACAG" "r.(?)" "p.(?)" "" "" "0000989940" "00023950" "90" "10183" "0" "10183" "0" "c.10183C>T" "r.(?)" "p.(Gln3395Ter)" "" "" "0000989941" "00023950" "90" "10183" "0" "10183" "0" "c.10183C>T" "r.(?)" "p.(Gln3395Ter)" "" "" "0000989942" "00023950" "90" "4042" "0" "4066" "0" "c.4042_4066del" "r.(?)" "p.(Asn1348ProfsTer10)" "" "" "0000989943" "00023950" "70" "8945" "0" "8945" "0" "c.8945C>T" "r.(?)" "p.(Pro2982Leu)" "" "" "0000989944" "00023950" "90" "3792" "0" "3792" "0" "c.3792C>G" "r.(?)" "p.(Tyr1264Ter)" "" "" "0000989945" "00023950" "90" "3792" "0" "3792" "0" "c.3792C>G" "r.(?)" "p.(Tyr1264Ter)" "" "" "0000989946" "00023950" "90" "2085" "0" "2085" "0" "c.2085dup" "r.(?)" "p.(Ala696ArgfsTer18)" "" "" "0000989947" "00023950" "90" "2085" "0" "2085" "0" "c.2085dup" "r.(?)" "p.(Ala696ArgfsTer18)" "" "" "0000989948" "00023950" "90" "12454" "0" "12454" "0" "c.12454A>T" "r.(?)" "p.(Lys4152Ter)" "" "" "0000989949" "00023950" "90" "12454" "0" "12454" "0" "c.12454A>T" "r.(?)" "p.(Lys4152Ter)" "" "" "0000989950" "00023950" "70" "6842" "0" "6842" "0" "c.6842C>T" "r.(?)" "p.(Ser2281Phe)" "" "" "0000989951" "00023950" "70" "8312" "0" "8312" "0" "c.8312A>T" "r.(?)" "p.(Glu2771Val)" "" "" "0000989952" "00023950" "90" "12419" "0" "12419" "0" "c.12419G>A" "r.(?)" "p.(Trp4140Ter)" "" "" "0000989953" "00023950" "90" "12419" "0" "12419" "0" "c.12419G>A" "r.(?)" "p.(Trp4140Ter)" "" "" "0000989954" "00023950" "70" "2591" "0" "2591" "0" "c.2591del" "r.(?)" "p.(Gly864AlafsTer34)" "" "" "0000989955" "00023950" "70" "2591" "0" "2591" "0" "c.2591del" "r.(?)" "p.(Gly864AlafsTer34)" "" "" "0000989956" "00023950" "90" "6727" "0" "6728" "0" "c.6727_6728del" "r.(?)" "p.(Gln2243GlufsTer18)" "" "" "0000989957" "00023950" "70" "7484" "0" "7484" "0" "c.7484G>A" "r.(?)" "p.(Cys2495Tyr)" "" "" "0000989958" "00023950" "90" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "" "" "0000989959" "00023950" "90" "10745" "0" "10745" "0" "c.10745dup" "r.(?)" "p.(Val3584ArgfsTer43)" "" "" "0000989960" "00023950" "90" "10745" "0" "10745" "0" "c.10745dup" "r.(?)" "p.(Val3584ArgfsTer43)" "" "" "0000989961" "00023950" "90" "11461" "0" "11461" "0" "c.11461C>T" "r.(?)" "p.(Gln3821Ter)" "" "" "0000989962" "00023950" "70" "8282" "0" "8282" "0" "c.8282G>A" "r.(?)" "p.(Arg2761His)" "" "" "0000989963" "00023950" "70" "7616" "0" "7616" "0" "c.7616T>G" "r.(?)" "p.(Leu2539Arg)" "" "" "0000989964" "00023950" "50" "3892" "0" "3892" "0" "c.3892C>G" "r.(?)" "p.(Arg1298Gly)" "" "" "0000989965" "00023950" "50" "2081" "0" "2081" "0" "c.2081C>T" "r.(?)" "p.(Pro694Leu)" "" "" "0000989966" "00023950" "50" "11014" "0" "11014" "0" "c.11014C>T" "r.(?)" "p.(Arg3672Trp)" "" "" "0000989967" "00023950" "50" "11576" "0" "11576" "0" "c.11576C>G" "r.(?)" "p.(Pro3859Arg)" "" "" "0000989968" "00023950" "50" "11576" "0" "11576" "0" "c.11576C>G" "r.(?)" "p.(Pro3859Arg)" "" "" "0000989969" "00023950" "50" "12097" "0" "12097" "0" "c.12097C>G" "r.(?)" "p.(Leu4033Val)" "" "" "0000989970" "00023950" "90" "8614" "0" "8614" "0" "c.8614del" "r.(?)" "p.(Ile2872SerfsTer3)" "" "" "0000989971" "00023950" "50" "11375" "0" "11375" "0" "c.11375C>T" "r.(?)" "p.(Ser3792Leu)" "" "" "0000989972" "00023950" "90" "12010" "0" "12010" "0" "c.12010C>T" "r.(?)" "p.(Gln4004Ter)" "" "" "0001002013" "00023950" "50" "56431" "0" "56431" "0" "c.*43519C>T" "r.(=)" "p.(=)" "" "" "0001002017" "00023950" "30" "52127" "0" "52128" "0" "c.*39215_*39216del" "r.(=)" "p.(=)" "" "" "0001002018" "00023950" "50" "48328" "0" "48328" "0" "c.*35416C>T" "r.(=)" "p.(=)" "" "" "0001002019" "00023950" "30" "47181" "0" "47181" "0" "c.*34269G>C" "r.(=)" "p.(=)" "" "" "0001002022" "00023950" "30" "40087" "0" "40087" "0" "c.*27175T>C" "r.(=)" "p.(=)" "" "" "0001002024" "00023950" "30" "28322" "0" "28322" "0" "c.*15410C>G" "r.(=)" "p.(=)" "" "" "0001002025" "00023950" "50" "24982" "0" "24982" "0" "c.*12070A>G" "r.(=)" "p.(=)" "" "" "0001002026" "00023950" "50" "23243" "0" "23243" "0" "c.*10331G>C" "r.(=)" "p.(=)" "" "" "0001002027" "00023950" "30" "22442" "0" "22442" "0" "c.*9530C>T" "r.(=)" "p.(=)" "" "" "0001002028" "00023950" "10" "18132" "0" "18132" "0" "c.*5220C>A" "r.(=)" "p.(=)" "" "" "0001002029" "00023950" "30" "18119" "0" "18119" "0" "c.*5207G>C" "r.(=)" "p.(=)" "" "" "0001002030" "00023950" "30" "17637" "0" "17637" "0" "c.*4725G>C" "r.(=)" "p.(=)" "" "" "0001002031" "00023950" "50" "15894" "0" "15894" "0" "c.*2982G>C" "r.(=)" "p.(=)" "" "" "0001002032" "00023950" "10" "14749" "0" "14749" "0" "c.*1837C>G" "r.(=)" "p.(=)" "" "" "0001002033" "00023950" "50" "14731" "0" "14731" "0" "c.*1819C>T" "r.(=)" "p.(=)" "" "" "0001002034" "00023950" "50" "14568" "0" "14568" "0" "c.*1656T>G" "r.(=)" "p.(=)" "" "" "0001002035" "00023950" "70" "12410" "0" "12410" "0" "c.12410T>C" "r.(?)" "p.(Leu4137Pro)" "" "" "0001002036" "00023950" "30" "12282" "0" "12282" "0" "c.12282G>A" "r.(?)" "p.(=)" "" "" "0001002037" "00023950" "50" "12197" "0" "12197" "0" "c.12197G>A" "r.(?)" "p.(Cys4066Tyr)" "" "" "0001002038" "00023950" "50" "11347" "0" "11347" "0" "c.11347G>C" "r.(?)" "p.(Val3783Leu)" "" "" "0001002040" "00023950" "50" "11188" "0" "11188" "0" "c.11188G>A" "r.(?)" "p.(Val3730Met)" "" "" "0001002041" "00023950" "90" "11017" "-10" "11017" "-10" "c.11017-10C>A" "r.(=)" "p.(=)" "" "" "0001002042" "00023950" "90" "10569" "0" "10596" "0" "c.10569_10596del" "r.(?)" "p.(Ser3523Argfs*53)" "" "" "0001002043" "00023950" "50" "10405" "0" "10405" "0" "c.10405G>C" "r.(?)" "p.(Asp3469His)" "" "" "0001002044" "00023950" "30" "10250" "0" "10250" "0" "c.10250C>T" "r.(?)" "p.(Thr3417Met)" "" "" "0001002045" "00023950" "50" "10168" "-10" "10168" "-10" "c.10168-10C>T" "r.(=)" "p.(=)" "" "" "0001002046" "00023950" "30" "9957" "0" "9957" "0" "c.9957C>T" "r.(?)" "p.(Ser3319=)" "" "" "0001002047" "00023950" "30" "9923" "5" "9923" "5" "c.9923+5G>A" "r.spl?" "p.?" "" "" "0001002048" "00023950" "70" "9504" "0" "9504" "0" "c.9504C>G" "r.(?)" "p.(Phe3168Leu)" "" "" "0001002049" "00023950" "30" "8594" "0" "8594" "0" "c.8594G>A" "r.(?)" "p.(Arg2865Gln)" "" "" "0001002050" "00023950" "50" "8009" "0" "8009" "0" "c.8009A>G" "r.(?)" "p.(Gln2670Arg)" "" "" "0001002051" "00023950" "50" "7841" "0" "7841" "0" "c.7841C>T" "r.(?)" "p.(Ala2614Val)" "" "" "0001002052" "00023950" "30" "7745" "0" "7745" "0" "c.7745C>T" "r.(?)" "p.(Thr2582Met)" "" "" "0001002053" "00023950" "30" "7567" "0" "7567" "0" "c.7567G>A" "r.(?)" "p.(Glu2523Lys)" "" "" "0001002054" "00023950" "30" "6868" "0" "6868" "0" "c.6868G>A" "r.(?)" "p.(Asp2290Asn)" "" "" "0001002055" "00023950" "30" "6440" "0" "6440" "0" "c.6440G>A" "r.(?)" "p.(Arg2147Gln)" "" "" "0001002056" "00023950" "90" "6172" "0" "6172" "0" "c.6172C>T" "r.(?)" "p.(Gln2058*)" "" "" "0001002057" "00023950" "90" "5563" "0" "5563" "0" "c.5563del" "r.(?)" "p.(Val1855Serfs*94)" "" "" "0001002058" "00023950" "50" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Thr1833Ile)" "" "" "0001002059" "00023950" "30" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Thr1773Ile)" "" "" "0001002060" "00023950" "30" "4706" "0" "4706" "0" "c.4706G>A" "r.(?)" "p.(Ser1569Asn)" "" "" "0001002061" "00023950" "30" "4670" "0" "4670" "0" "c.4670G>A" "r.(?)" "p.(Arg1557His)" "" "" "0001002062" "00023950" "90" "4551" "0" "4551" "0" "c.4551C>A" "r.(?)" "p.(Tyr1517*)" "" "" "0001002063" "00023950" "90" "3745" "0" "3745" "0" "c.3745del" "r.(?)" "p.(Asp1249Thrfs*24)" "" "" "0001002064" "00023950" "50" "3722" "0" "3722" "0" "c.3722T>G" "r.(?)" "p.(Ile1241Ser)" "" "" "0001002065" "00023950" "30" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Thr1115Met)" "" "" "0001002066" "00023950" "50" "2703" "0" "2703" "0" "c.2703G>T" "r.(?)" "p.(Trp901Cys)" "" "" "0001002067" "00023950" "50" "2347" "0" "2347" "0" "c.2347G>A" "r.(?)" "p.(Gly783Ser)" "" "" "0001002068" "00023950" "50" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Gly535Arg)" "" "" "0001002069" "00023950" "90" "1308" "0" "1308" "0" "c.1308dup" "r.(?)" "p.(Gln437Serfs*82)" "" "" "0001002070" "00023950" "70" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Tyr420Cys)" "" "" "0001002071" "00023950" "30" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "" "0001002072" "00023950" "50" "896" "0" "897" "0" "c.896_897del" "r.(?)" "p.(Pro299Argfs*71)" "" "" "0001002073" "00023950" "70" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Cys230Tyr)" "" "" "0001002074" "00023950" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Tyr180Cys)" "" "" "0001007036" "00023950" "90" "71" "0" "81" "0" "c.71_81del" "r.(?)" "p.(Gly24Alafs*86)" "1" "" "0001007058" "00023950" "70" "1830" "0" "1830" "0" "c.1830C>G" "r.(?)" "p.(Tyr610*)" "9" "" "0001007544" "00023950" "70" "11576" "0" "11576" "0" "c.11576C>T" "r.(?)" "p.(Pro3859Leu)" "" "" "0001015314" "00023950" "50" "58902" "0" "58903" "0" "c.*45990_*45991del" "r.(=)" "p.(=)" "" "" "0001015315" "00023950" "90" "53886" "0" "53889" "0" "c.*40974_*40977del" "r.(=)" "p.(=)" "" "" "0001015316" "00023950" "30" "48215" "0" "48215" "0" "c.*35303G>A" "r.(=)" "p.(=)" "" "" "0001015317" "00023950" "50" "47181" "0" "47181" "0" "c.*34269G>C" "r.(=)" "p.(=)" "" "" "0001015318" "00023950" "90" "32107" "0" "32107" "0" "c.*19195T>C" "r.(=)" "p.(=)" "" "" "0001015319" "00023950" "90" "32069" "0" "32069" "0" "c.*19157G>A" "r.(=)" "p.(=)" "" "" "0001015320" "00023950" "50" "30855" "0" "30855" "0" "c.*17943C>T" "r.(=)" "p.(=)" "" "" "0001015321" "00023950" "10" "28344" "0" "28344" "0" "c.*15432G>A" "r.(=)" "p.(=)" "" "" "0001015322" "00023950" "30" "20885" "0" "20885" "0" "c.*7973G>A" "r.(=)" "p.(=)" "" "" "0001015323" "00023950" "70" "20840" "0" "20840" "0" "c.*7928C>A" "r.(=)" "p.(=)" "" "" "0001015324" "00023950" "30" "20191" "0" "20191" "0" "c.*7279G>A" "r.(=)" "p.(=)" "" "" "0001015325" "00023950" "50" "18929" "0" "18929" "0" "c.*6017A>T" "r.(=)" "p.(=)" "" "" "0001015326" "00023950" "30" "18871" "0" "18871" "0" "c.*5959G>A" "r.(=)" "p.(=)" "" "" "0001015327" "00023950" "10" "18410" "0" "18410" "0" "c.*5498G>A" "r.(=)" "p.(=)" "" "" "0001015328" "00023950" "30" "17948" "0" "17948" "0" "c.*5036T>C" "r.(=)" "p.(=)" "" "" "0001015329" "00023950" "30" "17917" "0" "17917" "0" "c.*5005G>T" "r.(=)" "p.(=)" "" "" "0001015330" "00023950" "30" "15744" "0" "15744" "0" "c.*2832C>A" "r.(=)" "p.(=)" "" "" "0001015331" "00023950" "30" "14439" "0" "14442" "0" "c.*1527_*1530del" "r.(=)" "p.(=)" "" "" "0001015332" "00023950" "30" "14122" "0" "14122" "0" "c.*1210A>G" "r.(=)" "p.(=)" "" "" "0001015334" "00023950" "30" "11262" "0" "11262" "0" "c.11262G>C" "r.(?)" "p.(Leu3754=)" "" "" "0001015335" "00023950" "50" "10920" "0" "10920" "0" "c.10920C>T" "r.(?)" "p.(Ser3640=)" "" "" "0001015336" "00023950" "50" "10597" "0" "10597" "0" "c.10597G>T" "r.(?)" "p.(Ala3533Ser)" "" "" "0001015337" "00023950" "30" "10447" "0" "10447" "0" "c.10447A>C" "r.(?)" "p.(Ser3483Arg)" "" "" "0001015338" "00023950" "50" "10262" "0" "10262" "0" "c.10262C>T" "r.(?)" "p.(Pro3421Leu)" "" "" "0001015339" "00023950" "90" "10087" "0" "10087" "0" "c.10087C>T" "r.(?)" "p.(Gln3363*)" "" "" "0001015340" "00023950" "70" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Arg3277Cys)" "" "" "0001015341" "00023950" "70" "9801" "0" "9801" "0" "c.9801G>A" "r.(?)" "p.(Trp3267*)" "" "" "0001015342" "00023950" "50" "9178" "0" "9178" "0" "c.9178A>G" "r.(?)" "p.(Ser3060Gly)" "" "" "0001015343" "00023950" "30" "9111" "0" "9111" "0" "c.9111G>A" "r.(?)" "p.(Ser3037=)" "" "" "0001015344" "00023950" "30" "8662" "0" "8662" "0" "c.8662C>T" "r.(?)" "p.(Arg2888Cys)" "" "" "0001015345" "00023950" "90" "8470" "0" "8470" "0" "c.8470C>T" "r.(?)" "p.(Gln2824*)" "" "" "0001015346" "00023950" "70" "8447" "0" "8447" "0" "c.8447T>C" "r.(?)" "p.(Leu2816Pro)" "" "" "0001015347" "00023950" "50" "8360" "0" "8360" "0" "c.8360G>C" "r.(?)" "p.(Arg2787Pro)" "" "" "0001015348" "00023950" "90" "8056" "0" "8056" "0" "c.8056C>T" "r.(?)" "p.(Gln2686*)" "" "" "0001015349" "00023950" "30" "7863" "13" "7863" "13" "c.7863+13T>C" "r.(=)" "p.(=)" "" "" "0001015350" "00023950" "70" "7268" "0" "7268" "0" "c.7268C>A" "r.(?)" "p.(Ser2423Tyr)" "" "" "0001015351" "00023950" "50" "6224" "0" "6224" "0" "c.6224G>A" "r.(?)" "p.(Arg2075His)" "" "" "0001015352" "00023950" "30" "5847" "0" "5847" "0" "c.5847C>T" "r.(?)" "p.(=)" "" "" "0001015353" "00023950" "90" "4796" "0" "4796" "0" "c.4796dup" "r.(?)" "p.(Tyr1599*)" "" "" "0001015354" "00023950" "30" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(Ile1434=)" "" "" "0001015356" "00023950" "70" "3490" "0" "3490" "0" "c.3490G>A" "r.(?)" "p.(Gly1164Arg)" "" "" "0001015357" "00023950" "90" "1606" "1" "1606" "1" "c.1606+1G>A" "r.spl?" "p.?" "" "" "0001015358" "00023950" "70" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Ser)" "" "" "0001017945" "00023950" "70" "12445" "-12" "12445" "-12" "c.12445-12T>A" "r.spl?" "p.?" "45i" "loss of physiological SA site and de novo creation of SA in ex46 (out-of-frame)" "0001022096" "00023950" "50" "5830" "0" "5830" "0" "c.5830G>A" "r.5830G>A" "p.Gly1944Arg" "15" "" "0001026585" "00023950" "30" "58038" "0" "58038" "0" "c.*45126G>A" "r.(=)" "p.(=)" "" "" "0001026586" "00023950" "10" "49251" "0" "49251" "0" "c.*36339G>A" "r.(=)" "p.(=)" "" "" "0001026587" "00023950" "50" "47181" "0" "47181" "0" "c.*34269G>C" "r.(=)" "p.(=)" "" "" "0001026588" "00023950" "50" "47156" "0" "47156" "0" "c.*34244C>T" "r.(=)" "p.(=)" "" "" "0001026589" "00023950" "30" "46024" "0" "46024" "0" "c.*33112G>A" "r.(=)" "p.(=)" "" "" "0001026590" "00023950" "30" "43758" "0" "43758" "0" "c.*30846C>T" "r.(=)" "p.(=)" "" "" "0001026591" "00023950" "30" "40623" "0" "40623" "0" "c.*27711G>T" "r.(=)" "p.(=)" "" "" "0001026592" "00023950" "30" "39692" "0" "39692" "0" "c.*26780C>T" "r.(=)" "p.(=)" "" "" "0001026593" "00023950" "50" "39663" "0" "39663" "0" "c.*26751C>T" "r.(=)" "p.(=)" "" "" "0001026594" "00023950" "30" "37141" "0" "37142" "0" "c.*24229_*24230dup" "r.(=)" "p.(=)" "" "" "0001026595" "00023950" "10" "31023" "0" "31023" "0" "c.*18111A>G" "r.(=)" "p.(=)" "" "" "0001026596" "00023950" "30" "28256" "0" "28256" "0" "c.*15344G>A" "r.(=)" "p.(=)" "" "" "0001026597" "00023950" "30" "23324" "0" "23324" "0" "c.*10412G>C" "r.(=)" "p.(=)" "" "" "0001026598" "00023950" "50" "22982" "0" "22982" "0" "c.*10070G>A" "r.(=)" "p.(=)" "" "" "0001026599" "00023950" "30" "22272" "0" "22272" "0" "c.*9360C>T" "r.(=)" "p.(=)" "" "" "0001026600" "00023950" "50" "18956" "0" "18956" "0" "c.*6044C>T" "r.(=)" "p.(=)" "" "" "0001026601" "00023950" "30" "17948" "0" "17948" "0" "c.*5036T>C" "r.(=)" "p.(=)" "" "" "0001026602" "00023950" "50" "17637" "0" "17637" "0" "c.*4725G>C" "r.(=)" "p.(=)" "" "" "0001026603" "00023950" "90" "17373" "0" "17373" "0" "c.*4461G>A" "r.(=)" "p.(=)" "" "" "0001026604" "00023950" "10" "14741" "0" "14741" "0" "c.*1829C>T" "r.(=)" "p.(=)" "" "" "0001026605" "00023950" "30" "14538" "0" "14538" "0" "c.*1626G>A" "r.(=)" "p.(=)" "" "" "0001026606" "00023950" "30" "14179" "0" "14179" "0" "c.*1267G>A" "r.(=)" "p.(=)" "" "" "0001026607" "00023950" "90" "12739" "0" "12739" "0" "c.12739C>T" "r.(?)" "p.(Gln4247*)" "" "" "0001026608" "00023950" "90" "11563" "0" "11564" "0" "c.11563_11564del" "r.(?)" "p.(Thr3855Alafs*105)" "" "" "0001026609" "00023950" "30" "11538" "-11" "11538" "-11" "c.11538-11C>T" "r.(=)" "p.(=)" "" "" "0001026610" "00023950" "90" "11453" "0" "11453" "0" "c.11453dup" "r.(?)" "p.(Tyr3819Leufs*142)" "" "" "0001026611" "00023950" "70" "11257" "0" "11257" "0" "c.11257C>T" "r.(?)" "p.(Arg3753Trp)" "" "" "0001026612" "00023950" "90" "11039" "0" "11040" "0" "c.11039_11040del" "r.(?)" "p.(Phe3680Serfs*41)" "" "" "0001026613" "00023950" "30" "10654" "0" "10654" "0" "c.10654G>T" "r.(?)" "p.(Ala3552Ser)" "" "" "0001026614" "00023950" "30" "10499" "10" "10499" "10" "c.10499+10C>T" "r.(=)" "p.(=)" "" "" "0001026615" "00023950" "90" "10420" "0" "10420" "0" "c.10420C>T" "r.(?)" "p.(Gln3474*)" "" "" "0001026616" "00023950" "90" "10306" "0" "10306" "0" "c.10306C>T" "r.(?)" "p.(Gln3436*)" "" "" "0001026617" "00023950" "10" "10304" "0" "10304" "0" "c.10304G>A" "r.(?)" "p.(Arg3435Gln)" "" "" "0001026618" "00023950" "30" "10102" "0" "10102" "0" "c.10102G>A" "r.(?)" "p.(Asp3368Asn)" "" "" "0001026619" "00023950" "30" "10061" "0" "10061" "0" "c.10061G>T" "r.(?)" "p.(Ser3354Ile)" "" "" "0001026620" "00023950" "50" "9794" "0" "9794" "0" "c.9794C>G" "r.(?)" "p.(Ser3265Cys)" "" "" "0001026621" "00023950" "70" "9404" "0" "9404" "0" "c.9404C>T" "r.(?)" "p.(Thr3135Met)" "" "" "0001026622" "00023950" "90" "9201" "2" "9201" "2" "c.9201+2T>C" "r.spl?" "p.?" "" "" "0001026623" "00023950" "90" "8998" "0" "8998" "0" "c.8998del" "r.(?)" "p.(Arg3000Alafs*74)" "" "" "0001026624" "00023950" "10" "8364" "0" "8364" "0" "c.8364G>A" "r.(?)" "p.(Ser2788=)" "" "" "0001026625" "00023950" "90" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "" "" "0001026626" "00023950" "70" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Glu2771Lys)" "" "" "0001026627" "00023950" "90" "8299" "0" "8299" "0" "c.8299C>T" "r.(?)" "p.(Arg2767Cys)" "" "" "0001026628" "00023950" "90" "7984" "0" "7984" "0" "c.7984C>T" "r.(?)" "p.(Gln2662*)" "" "" "0001026629" "00023950" "50" "7928" "0" "7928" "0" "c.7928G>T" "r.(?)" "p.(Arg2643Leu)" "" "" "0001026630" "00023950" "90" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639*)" "" "" "0001026631" "00023950" "50" "7300" "0" "7300" "0" "c.7300C>T" "r.(?)" "p.(Arg2434Trp)" "" "" "0001026632" "00023950" "10" "7272" "0" "7272" "0" "c.7272G>A" "r.(?)" "p.(=)" "" "" "0001026633" "00023950" "90" "6994" "0" "7000" "0" "c.6994_7000del" "r.(?)" "p.(Ala2332Trpfs*7)" "" "" "0001026634" "00023950" "50" "6683" "0" "6683" "0" "c.6683A>G" "r.(?)" "p.(Tyr2228Cys)" "" "" "0001026635" "00023950" "90" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Gln2062*)" "" "" "0001026636" "00023950" "30" "5896" "0" "5896" "0" "c.5896G>A" "r.(?)" "p.(Val1966Met)" "" "" "0001026637" "00023950" "90" "5460" "0" "5460" "0" "c.5460dup" "r.(?)" "p.(Ser1821Valfs*169)" "" "" "0001026638" "00023950" "90" "4818" "0" "4818" "0" "c.4818del" "r.(?)" "p.(Phe1607Serfs*26)" "" "" "0001026639" "00023950" "30" "3931" "0" "3931" "0" "c.3931G>A" "r.(?)" "p.(Ala1311Thr)" "" "" "0001026640" "00023950" "50" "3871" "0" "3871" "0" "c.3871G>T" "r.(?)" "p.(Val1291Phe)" "" "" "0001026641" "00023950" "90" "3015" "0" "3032" "0" "c.3015_3032del" "r.(?)" "p.(Asn1008_Val1013del)" "" "" "0001026642" "00023950" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Gln987*)" "" "" "0001026643" "00023950" "50" "2843" "0" "2843" "0" "c.2843G>T" "r.(?)" "p.(Gly948Val)" "" "" "0001026644" "00023950" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Pro829Leu)" "" "" "0001026645" "00023950" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "" "" "0001026646" "00023950" "90" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Trp516*)" "" "" "0001026647" "00023950" "90" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Gln431*)" "" "" "0001040893" "00023950" "30" "58942" "0" "58942" "0" "c.*46030C>T" "r.(=)" "p.(=)" "" "" "0001040895" "00023950" "30" "54811" "0" "54811" "0" "c.*41899C>G" "r.(=)" "p.(=)" "" "" "0001040896" "00023950" "30" "49265" "0" "49265" "0" "c.*36353C>T" "r.(=)" "p.(=)" "" "" "0001040897" "00023950" "30" "48336" "0" "48336" "0" "c.*35424C>T" "r.(=)" "p.(=)" "" "" "0001040899" "00023950" "10" "45454" "0" "45454" "0" "c.*32542C>T" "r.(=)" "p.(=)" "" "" "0001040901" "00023950" "10" "43793" "0" "43793" "0" "c.*30881C>T" "r.(=)" "p.(=)" "" "" "0001040902" "00023950" "30" "43760" "0" "43760" "0" "c.*30848C>A" "r.(=)" "p.(=)" "" "" "0001040903" "00023950" "30" "40108" "0" "40108" "0" "c.*27196G>A" "r.(=)" "p.(=)" "" "" "0001040906" "00023950" "30" "30728" "0" "30728" "0" "c.*17816C>T" "r.(=)" "p.(=)" "" "" "0001040907" "00023950" "30" "30289" "0" "30289" "0" "c.*17377G>A" "r.(=)" "p.(=)" "" "" "0001040909" "00023950" "30" "23596" "0" "23596" "0" "c.*10684G>A" "r.(=)" "p.(=)" "" "" "0001040910" "00023950" "50" "22321" "0" "22321" "0" "c.*9409G>A" "r.(=)" "p.(=)" "" "" "0001040911" "00023950" "50" "18202" "0" "18202" "0" "c.*5290G>A" "r.(=)" "p.(=)" "" "" "0001040912" "00023950" "10" "18132" "0" "18132" "0" "c.*5220C>A" "r.(=)" "p.(=)" "" "" "0001040913" "00023950" "50" "17991" "0" "17991" "0" "c.*5079C>G" "r.(=)" "p.(=)" "" "" "0001040914" "00023950" "90" "15846" "0" "15848" "0" "c.*2934_*2936del" "r.(=)" "p.(=)" "" "" "0001040915" "00023950" "30" "14783" "0" "14783" "0" "c.*1871G>A" "r.(=)" "p.(=)" "" "" "0001040916" "00023950" "50" "14749" "0" "14749" "0" "c.*1837C>G" "r.(=)" "p.(=)" "" "" "0001040917" "00023950" "30" "14565" "0" "14565" "0" "c.*1653C>T" "r.(=)" "p.(=)" "" "" "0001040918" "00023950" "90" "14346" "0" "14346" "0" "c.*1434G>A" "r.(=)" "p.(=)" "" "" "0001040919" "00023950" "30" "12138" "15" "12138" "15" "c.12138+15G>A" "r.(=)" "p.(=)" "" "" "0001040922" "00023950" "50" "11449" "0" "11449" "0" "c.11449G>C" "r.(?)" "p.(Gly3817Arg)" "" "" "0001040923" "00023950" "30" "10406" "-4" "10406" "-4" "c.10406-4C>G" "r.spl?" "p.?" "" "" "0001040924" "00023950" "90" "9895" "0" "9895" "0" "c.9895dup" "r.(?)" "p.(Tyr3299Leufs*91)" "" "" "0001040925" "00023950" "90" "9883" "0" "9888" "0" "c.9883_9888del" "r.(?)" "p.(Asn3295_Ala3296del)" "" "" "0001040926" "00023950" "50" "9869" "0" "9869" "0" "c.9869T>C" "r.(?)" "p.(Leu3290Pro)" "" "" "0001040927" "00023950" "30" "9568" "9" "9568" "9" "c.9568+9G>A" "r.(=)" "p.(=)" "" "" "0001040928" "00023950" "50" "9349" "0" "9349" "0" "c.9349C>T" "r.(?)" "p.(Arg3117Cys)" "" "" "0001040929" "00023950" "50" "9319" "0" "9319" "0" "c.9319C>T" "r.(?)" "p.(Arg3107Cys)" "" "" "0001040930" "00023950" "90" "8257" "0" "8260" "0" "c.8257_8260del" "r.(?)" "p.(Tyr2753Thrfs*2)" "" "" "0001040931" "00023950" "30" "8130" "0" "8130" "0" "c.8130C>T" "r.(?)" "p.(=)" "" "" "0001040932" "00023950" "90" "8008" "0" "8008" "0" "c.8008C>T" "r.(?)" "p.(Gln2670*)" "" "" "0001040933" "00023950" "50" "7937" "0" "7937" "0" "c.7937T>C" "r.(?)" "p.(Ile2646Thr)" "" "" "0001040934" "00023950" "50" "7803" "0" "7811" "0" "c.7803_7811del" "r.(?)" "p.(Gln2602_Asp2604del)" "" "" "0001040935" "00023950" "50" "7417" "0" "7417" "0" "c.7417G>T" "r.(?)" "p.(Gly2473Trp)" "" "" "0001040936" "00023950" "50" "7321" "0" "7321" "0" "c.7321G>A" "r.(?)" "p.(Gly2441Ser)" "" "" "0001040937" "00023950" "30" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(=)" "" "" "0001040938" "00023950" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Asp1165=)" "" "" "0001040939" "00023950" "30" "3425" "0" "3425" "0" "c.3425G>A" "r.(?)" "p.(Arg1142Gln)" "" "" "0001040940" "00023950" "70" "2730" "0" "2741" "0" "c.2730_2741del" "r.(?)" "p.(Asp910_Val913del)" "" "" "0001040941" "00023950" "30" "1557" "0" "1557" "0" "c.1557C>T" "r.(?)" "p.(=)" "" "" "0001040942" "00023950" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Cys)" "" "" "0001040943" "00023950" "30" "1162" "0" "1162" "0" "c.1162G>T" "r.(?)" "p.(Ala388Ser)" "" "" "0001040944" "00023950" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "" "" "0001040945" "00023950" "50" "302" "0" "302" "0" "c.302A>C" "r.(?)" "p.(Asn101Thr)" "" "" "0001045007" "00023950" "70" "9502" "0" "9502" "0" "c.9502T>G" "r.(9502T>G)" "p.(Phe3168Val)" "27" "" "0001046540" "00023950" "50" "56257" "0" "56257" "0" "c.*43345G>A" "r.(=)" "p.(=)" "" "" "0001046541" "00023950" "50" "54814" "0" "54814" "0" "c.*41902G>A" "r.(=)" "p.(=)" "" "" "0001046542" "00023950" "90" "30707" "0" "30707" "0" "c.*17795G>A" "r.(=)" "p.(=)" "" "" "0001046543" "00023950" "30" "28319" "0" "28319" "0" "c.*15407G>T" "r.(=)" "p.(=)" "" "" "0001046544" "00023950" "50" "14523" "0" "14523" "0" "c.*1611G>A" "r.(=)" "p.(=)" "" "" "0001046545" "00023950" "70" "12407" "0" "12407" "0" "c.12407G>T" "r.(?)" 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