### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKHD1) # 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}}" "PKHD1" "polycystic kidney and hepatic disease 1 (autosomal recessive)" "6" "p21.2-p12" "unknown" "NG_008753.1" "UD_132118498005" "" "http://www.LOVD.nl/PKHD1" "" "1" "9016" "5314" "606702" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/PKHD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2020-10-22 10:47:19" "00006" "2026-03-19 20:10:54" ## 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}}" "00000115" "PKHD1" "polycystic kidney and hepatic disease 1 (autosomal recessive), transcript variant 1" "001" "NM_138694.3" "" "NP_619639.3" "" "" "" "-276" "15959" "12225" "51952423" "51480145" "00002" "2012-05-11 13:12:08" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02022" "PKD4" "kidney, polycystic, disease, type 4, with/without hepatic disease (PKD4)" "AR" "263200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-29 16:02:08" "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" "04235" "FSHD" "dystrophy, muscular, facioscapulohumeral (FSHD)" "" "" "" "" "" "00006" "2015-04-04 18:14:08" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PKHD1" "02022" "PKHD1" "04222" ## Individuals ## Do not remove or alter this header ## ## Count = 680 "{{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}}" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000007" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000058" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000066" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000085" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000100" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00057280" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057281" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057282" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057283" "" "" "" "1" "" "00006" "{PMID:Bergmann 2006:16897190}" "" "" "" "" "" "0" "" "" "" "" "00057284" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057285" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057286" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057287" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057288" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057289" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057290" "" "" "" "2" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "family, 2 affected sibs (F, M)" "F;M" "" "Finland" "" "0" "" "" "" "Fam3Pat1/2" "00057291" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057292" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057293" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057294" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057295" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057296" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL33" "00057297" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Turkey" "" "0" "" "" "" "331/1360" "00057298" "" "" "" "1" "" "00006" "{PMID:Adeva 2006:16523049}" "" "" "" "" "" "0" "" "" "" "" "00057299" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057300" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Netherlands" "" "0" "" "" "" "398/1639" "00057301" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057302" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057303" "" "" "" "1" "" "00006" "{PMID:Adeva 2006:16523049}" "" "" "" "" "" "0" "" "" "" "" "00057304" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057305" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057306" "" "" "" "3" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "family, 3 affected (2F, M)" "F;M" "yes" "" "" "0" "" "" "" "Fam360Pat1/2/3" "00057307" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057308" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057309" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Australia" "" "0" "" "" "" "367/1515" "00057310" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057311" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057312" "" "" "" "2" "" "00006" "{PMID:Onuchic 2002:11898128}" "2-generation family, affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "PatAL52" "00057313" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL21" "00057314" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057315" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "South Africa" "" "0" "" "" "Afrikaner" "AL4" "00057316" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057317" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057318" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057319" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057320" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057321" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Germany" "" "0" "" "" "" "313/1289" "00057322" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057323" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057324" "" "" "" "3" "" "00006" "{PMID:Onuchic 2002:11898128}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "PatAL48" "00057325" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057326" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057327" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057328" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057329" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057330" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "" "" "Pakistan" "" "0" "" "" "" "patient" "00057331" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057332" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057333" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057334" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057335" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057336" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057337" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057338" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Turkey" "" "0" "" "" "" "AL35" "00057339" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057340" "" "" "" "1" "" "00006" "{PMID:Adeva 2006:16523049}" "" "" "" "" "" "0" "" "" "" "" "00057341" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "M" "" "Finland" "<00y00m00d" "0" "" "" "" "Fam385" "00057342" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057343" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Italy" "" "0" "" "" "" "296/1233" "00057344" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057345" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "AL53" "00057346" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057347" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057348" "" "" "" "2" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "family, 2 affected (F, M)" "F;M" "" "Germany" "" "0" "" "" "" "Fam316Pat1/2" "00057349" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatAL45" "00057350" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00057351" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00057352" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057353" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057354" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057355" "" "" "" "4" "" "00006" "{PMID:Onuchic 2002:11898128}" "2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat1AL1" "00057356" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057357" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057358" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057359" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057360" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057361" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "Al27" "00057362" "" "" "" "1" "" "00006" "{PMID:Sgro 2004:14971004}" "" "" "" "" "" "0" "" "" "" "" "00057363" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057364" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057365" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057366" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Fam258" "00057367" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL19" "00057368" "" "" "" "1" "" "00006" "{PMID:Sgro 2004:14971004}" "" "" "" "" "" "0" "" "" "" "" "00057369" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057370" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057371" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057372" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL34" "00057373" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057374" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "Hispanic" "AL30" "00057375" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057376" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057377" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057378" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "M" "yes" "Syria" "" "0" "" "" "" "Fam470" "00057379" "" "" "" "3" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "family, 3 affected sibs (2F, M)" "F;M" "" "Italy" "" "0" "" "" "" "Fam105" "00057380" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00057381" "" "" "" "2" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "family, 2 affected" "F" "" "Finland" "" "0" "" "" "" "Fam113Pat1" "00057382" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Austria" "" "0" "" "" "" "371/1535" "00057383" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057384" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057385" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057386" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057387" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057388" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057389" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057390" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057391" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057392" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057393" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "African American;Caribbean" "AE241" "00057394" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL58" "00057395" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057396" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057397" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057398" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057399" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057400" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057401" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057402" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057403" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057404" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057405" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057406" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatAL47" "00057407" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057408" "" "" "" "1" "" "00006" 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"" "" "" "" "00057555" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057556" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057557" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057558" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057559" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057560" "" "" "" "1" "" "00006" "{PMID:Michel-Calemard 2009:19021639}" "" "" "" "" "" "0" "" "" "" "" "00057561" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057562" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057563" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108277}" "" "" "" "" "" "0" "" "" "" "" "00057564" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" 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"" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057576" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057577" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057578" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "PatAL11" "00057579" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057580" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057581" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "F" "" "Finland" "" "0" "" "" "" "Fam299" "00057582" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057583" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057584" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057585" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057586" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057587" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057588" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057589" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057590" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL34" "00057591" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "" "" "" "South Africa" "" "0" "" "" "Afrikaner" "PatAL18" "00057592" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057593" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Turkey" "" "0" "" "" "" "95/1862" "00057594" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057595" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057596" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germany" "" "0" "" "" "" "Pat376/1559" "00057597" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057598" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057599" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057600" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "F" "" "Finland" "" "0" "" "" "" "Fam56" "00057601" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057602" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057603" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057604" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057605" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "F" "" "Turkey" "" "0" "" "" "" "Fam260" "00057606" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057607" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057608" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL8" "00057609" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat340/1395" "00057610" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057611" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057612" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057613" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam440" "00057614" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057615" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057616" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam215" "00057617" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057618" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057619" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057620" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057621" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057622" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057623" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057624" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057625" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057626" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057627" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057628" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "" "" "" "Turkey" "" "0" "" "" "" "Pat306/1272" "00057629" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057630" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057631" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057632" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057633" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057634" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "F" "yes" "Canada" "" "0" "" "" "Inuit" "Fam413Pat1" "00057635" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057636" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057637" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "" "" "United States" "" "0" "" "" "" "patient" "00057638" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057639" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "F" "" "Germany" "" "0" "" "" "" "Fam118Pat1" "00057640" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057641" "" "" "" "1" "" "00006" "{PMID:Onuchic 2002:11898128}" "" "" "" "Turkey" "" "0" "" "" "" "Pat291/1207" "00057642" "" "" "" "1" "" "00006" "{PMID:Rossetti 2003:12846734}" "" "" "" "" "" "0" "" "" "" "" "00057643" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057644" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057645" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "M" "" "Germany" "" "0" "" "" "" "Fam155" "00057646" "" "" "" "1" "" "00006" "{PMID:Bergmann 2003:12506140}" "" "" "" "Denmark" "" "0" "" "" "" "patient" "00057647" "" "" "" "1" "" "00006" "{PMID:Ward 2002:11919560}" "" "" "" "" "" "0" "" "" "" "" "00057648" "" "" "" "1" "" "00006" "{PMID:Sharp 2005:15805161}" "" "" "" "" "" "0" "" "" "" "" "00057649" "" "" "" "1" "" "00006" "{PMID:Losekoot 2005:16133180}" "" "" "" "" "" "0" "" "" "" "" "00057650" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057651" "" "" "" "1" "" "00006" "{PMID:Bergmann 2004:15108281}" "" "" "" "" "" "0" "" "" "" "" "00057652" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "" "" "0" "" "" "" "" "00057653" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057654" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057655" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00057656" "" "" "" "1" "" "00006" "{PMID:Denamur 2010:19940839}" "" "" "" "" "" "0" "" "" "" "" "00057657" "" "" "" "1" "" "00006" "{PMID:Gunay-Aygun 2010:19914852}" "" "" "" "" "" "0" "" "" "" "" "00080834" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00165021" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00165022" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00245548" "" "" "" "1" "" "00029" "{PMID:Lemmers 2019:31243061}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00275525" "" "" "" "1" "" "02473" "" "" "F" "?" "Oman" ">04y" "0" "" "" "" "SAYER" "00275526" "" "" "" "1" "" "02473" "" "" "M" "yes" "Oman" ">00y01m" "0" "" "" "" "SAYER" "00275527" "" "" "" "1" "" "02473" "" "" "M" "yes" "Oman" ">00y01m" "0" "" "" "" "SAYER" "00294138" "" "" "" "69" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294139" "" "" "" "104" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294140" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294141" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294142" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294143" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294144" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294145" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294146" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294147" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294148" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294149" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294150" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294151" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294152" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295210" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295314" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302687" "" "" "" "7" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P2" "00302688" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "" "Oman" "" "0" "" "" "" "P3" "00302689" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P5" "00302690" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "" "Oman" "" "0" "" "" "" "P6" "00302692" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "3-generation family, 1 affected, unaffected parents" "F" "" "Oman" "" "0" "" "" "" "P8" "00302693" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "" "Oman" "" "0" "" "" "" "P9" "00302694" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P11" "00302695" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P16" "00302698" "" "" "" "2" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 2 affected brothers, unaffected parents" "M" "yes" "Oman" "" "0" "" "" "" "P22" "00302701" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P25" "00302702" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P26" "00302703" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "4-generation family, 4 affected sibs, unaffected parents" "M" "yes" "Oman" "" "0" "" "" "" "P27" "00302704" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P28" "00302705" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P29" "00302710" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P38" "00302715" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "3-generation family, 1 affected, unaffected parents" "M" "" "Oman" "" "0" "" "" "" "P44" "00302722" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "M" "" "Oman" "" "0" "" "" "" "P52" "00302723" "" "" "" "2" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "3-generation family, affected brother/sister, unaffected parents" "M" "" "Oman" "" "0" "" "" "" "P53" "00305105" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314937" "" "" "" "1" "" "03828" "" "Fetal, Second Trimester" "?" "no" "China" "" "0" "" "" "Asian" "" "00314957" "" "" "" "1" "" "03828" "" "fetal，second trimester" "?" "no" "China" "" "" "" "" "Asian" "" "00395022" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K114" "00401999" "" "" "" "2" "" "00006" "{PMID:Chen 2019:30617278}" "6-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives" "" "yes" "China" "" "0" "" "" "" "fetus" "00403634" "" "" "" "2" "" "00006" "{PMID:Onuchic 2002:11898128}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "PatAL36" "00403635" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL7" "00403636" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL13" "00403637" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Germany;Romania" "" "0" "" "" "" "167/704" "00403638" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "England;Netherlands" "" "0" "" "" "" "338/1389" "00403639" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL14" "00403640" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "United States" "" "0" "" "" "white" "AL17" "00403641" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Scotland" "" "0" "" "" "white" "AL50" "00403642" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "AL25" "00403643" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Turkey" "" "0" "" "" "" "373/1544" "00403644" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Germany" "" "0" "" "" "" "163/699" "00403645" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "Czech Republic" "" "0" "" "" "" "389/1600" "00403646" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403647" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403648" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403649" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403650" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403651" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403652" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403653" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "" "00403654" "" "" "" "12" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403655" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403656" "" "" "" "7" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403657" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403658" "" "" "" "2" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403659" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403660" "" "" "" "22" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403661" "" "" "" "4" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403662" "" "" "" "8" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403663" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403664" "" "" "" "3" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403665" "" "" "" "4" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403666" "" "" "" "18" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403667" "" "" "" "3" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403668" "" "" "" "4" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403669" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403670" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403671" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403672" "" "" "" "7" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403673" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403674" "" "" "" "3" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403675" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403676" "" "" "" "3" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403677" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403678" "" "" "" "5" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403679" "" "" "" "3" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403680" "" "" "" "1" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403681" "" "" "" "2" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00403682" "" "" "" "5" "" "00006" "{PMID:Furu 2003:12874454}" "" "" "" "" "" "0" "" "" "" "controls" "00407674" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-6" "00407675" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "K-7" "00407678" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "O-463" "00414450" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP117" "00414705" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01899" "00415256" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "11" "00419550" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9081" "00419647" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8084" "00436423" "" "" "" "1" "" "04556" "" "2-generation family, 1 affected (M), unaffected heterozygous carrier parents" "F" "no" "China" ">07y" "0" "yes" "Liver transplantation" "Chinese" "" "00440445" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1356.1" "00448867" "" "" "" "1" "" "00006" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Japan" "" "0" "" "" "" "Pat500" "00448876" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1216" "00453407" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat81" "00453409" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat82" "00453411" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat84" "00453412" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat88" "00453413" "" "" "" "1" "" "00006" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat89" "00457668" "" "" "" "1" "" "00006" "{PMID:Lord 2024:39243181}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatPKHD1" "00466578" "" "" "" "1" "" "02473" "" "" "F" "yes" "Oman" "00y00m" "" "" "" "" "" "00466580" "" "" "" "1" "" "02473" "" "" "M" "yes" "Oman" "00y00m" "0" "" "" "" "" "00466581" "" "" "" "1" "" "02473" "" "" "?" "" "Oman" "00y00m" "" "" "" "" "" "00466582" "" "" "" "1" "" "02473" "" "" "M" "yes" "Oman" "00y00m" "" "" "" "" "" "00466585" "" "" "" "1" "" "02473" "" "" "F" "yes" "Oman" "00y00m" "0" "" "" "" "" "00466658" "" "" "" "1" "" "02473" "" "" "F" "yes" "Oman" "00y00m" "0" "" "" "" "family" "00466886" "" "" "" "2" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Finland" "<00y00m00d" "0" "" "" "" "Fam2Pat1" "00466887" "" "" "00466886" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "sister" "F" "" "Finland" "05y" "0" "" "" "" "Fam2Pat2" "00466889" "" "" "" "2" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}, {PMID:Bergmann 2005:16199545}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Germany" "14y" "0" "" "" "" "Fam27Pat1" "00466890" "" "" "00466889" "1" "" "00006" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}, {PMID:Bergmann 2005:16199545}" "sister" "F" "" "Germany" "03y" "0" "" "" "" "Fam27Pat2" "00466891" "" "" "" "2" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466892" "" "" "" "3" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466893" "" "" "" "5" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466894" "" "" "" "2" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466895" "" "" "" "50" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466896" "" "" "" "38" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466897" "" "" "" "40" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466898" "" "" "" "22" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466899" "" "" "" "9" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466900" "" "" "" "3" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466901" "" "" "" "3" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466902" "" "" "" "37" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466903" "" "" "" "9" "" "00006" "{PMID:Bergmann 2005:16199545}" "" "" "" "Germany" "" "0" "" "" "" "" "00466904" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466905" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466906" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466907" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466908" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466909" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466910" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466911" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466912" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466913" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466914" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466915" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466916" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466917" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466918" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466919" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466920" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466921" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466922" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466923" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466924" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466925" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466926" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466927" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466928" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466929" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466930" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466931" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466932" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466933" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466934" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466935" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466936" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466937" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466938" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466939" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466940" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466941" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466942" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466943" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466944" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466945" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466946" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466947" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466948" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466949" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466950" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466951" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466952" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466953" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466954" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466955" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466956" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466957" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466958" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466959" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466960" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466961" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466962" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466963" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466964" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466965" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466966" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466967" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466968" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466969" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466970" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466971" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466972" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466973" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466974" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466975" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466976" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466977" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466978" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466979" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466980" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466981" "" "" "" "1" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466982" "" "" "" "25" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466983" "" "" "" "15" "" "00006" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germany" "" "0" "" "" "" "" "00466984" "" "" "" "6" "" "00006" "{PMID:Bergmann 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"00294141" "00198" "00294142" "00198" "00294143" "00198" "00294144" "00198" "00294145" "00198" "00294146" "00198" "00294147" "00198" "00294148" "00198" "00294149" "00198" "00294150" "00198" "00294151" "00198" "00294152" "00198" "00295210" "00198" "00295314" "00198" "00302687" "04222" "00302688" "04222" "00302689" "04222" "00302690" "04222" "00302692" "04222" "00302693" "04222" "00302694" "04222" "00302695" "04222" "00302698" "04222" "00302701" "04222" "00302702" "04222" "00302703" "04222" "00302704" "04222" "00302705" "04222" "00302710" "04222" "00302715" "04222" "00302722" "04222" "00302723" "04222" "00305105" "00198" "00314937" "02022" "00314957" "02022" "00395022" "04214" "00401999" "04222" "00403634" "04222" "00403635" "04222" "00403636" "04222" "00403637" "04222" "00403638" "04222" "00403639" "04222" "00403640" "04222" "00403641" "04222" "00403642" "04222" "00403643" "04222" "00403644" "04222" "00403645" "04222" "00403646" "04222" "00403647" "04222" "00403648" "04222" "00403649" 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"00466580" "04222" "00466581" "04222" "00466582" "04222" "00466585" "04222" "00466658" "02022" "00466886" "04222" "00466887" "04222" "00466889" "04222" "00466890" "04222" "00466891" "04222" "00466892" "04222" "00466893" "04222" "00466894" "04222" "00466895" "04222" "00466896" "04222" "00466897" "04222" "00466898" "04222" "00466899" "04222" "00466900" "04222" "00466901" "04222" "00466902" "04222" "00466903" "04222" "00466904" "04222" "00466905" "04222" "00466906" "04222" "00466907" "04222" "00466908" "04222" "00466909" "04222" "00466910" "04222" "00466911" "04222" "00466912" "04222" "00466913" "04222" "00466914" "04222" "00466915" "04222" "00466916" "04222" "00466917" "04222" "00466918" "04222" "00466919" "04222" "00466920" "04222" "00466921" "04222" "00466922" "04222" "00466923" "04222" "00466924" "04222" "00466925" "04222" "00466926" "04222" "00466927" "04222" "00466928" "04222" "00466929" "04222" "00466930" "04222" "00466931" "04222" "00466932" "04222" "00466933" "04222" "00466934" "04222" "00466935" "04222" "00466936" "04222" "00466937" "04222" "00466938" "04222" "00466939" "04222" "00466940" "04222" "00466941" "04222" "00466942" "04222" "00466943" "04222" "00466944" "04222" "00466945" "04222" "00466946" "04222" "00466947" "04222" "00466948" "04222" "00466949" "04222" "00466950" "04222" "00466951" "04222" "00466952" "04222" "00466953" "04222" "00466954" "04222" "00466955" "04222" "00466956" "04222" "00466957" "04222" "00466958" "04222" "00466959" "04222" "00466960" "04222" "00466961" "04222" "00466962" "04222" "00466963" "04222" "00466964" "04222" "00466965" "04222" "00466966" "04222" "00466967" "04222" "00466968" "04222" "00466969" "04222" "00466970" "04222" "00466971" "04222" "00466972" "04222" "00466973" "04222" "00466974" "04222" "00466975" "04222" "00466976" "04222" "00466977" "04222" "00466978" "04222" "00466979" "04222" "00466980" "04222" "00466981" "04222" "00466982" "00000" "00466983" "00000" "00466984" "00000" "00466985" "00000" "00466986" "00000" "00466987" "00000" "00466988" "00000" "00466989" "00000" "00466990" "00000" "00466991" "00000" "00466992" "00000" "00466993" "00000" "00466994" "00000" "00466995" "00000" "00466996" "00000" "00466997" "00000" "00466998" "00000" "00466999" "00000" "00467000" "00000" "00467001" "00000" "00467002" "00000" "00467003" "00000" "00467004" "00000" "00467005" "00000" "00467006" "00000" "00467007" "00000" "00467008" "00000" "00467009" "00000" "00467010" "00000" "00467011" "00000" "00467012" "00000" "00467013" "00000" "00467014" "00000" "00467015" "00000" "00467016" "00000" "00467017" "00000" "00467018" "00000" "00467019" "00000" "00467020" "00000" "00467021" "00000" "00467022" "00000" "00467023" "00000" "00467024" "00000" "00467025" "00000" "00467026" "00000" "00467027" "00000" "00467028" "00000" "00467029" "00000" "00467030" "00000" "00467031" "00000" "00467032" "00000" "00467033" "00000" "00467034" "00000" "00467035" "00000" "00467036" "00000" "00467037" "00000" "00467038" "00000" "00467043" "04222" "00467044" "04222" "00467045" "04222" "00467046" "04222" "00467047" "04222" "00467048" "04222" "00467049" "04222" "00467050" "04222" "00467051" "04222" "00467052" "04222" "00467053" "04222" "00467054" "04222" "00467055" "04222" "00467056" "04222" "00467057" "04222" "00469226" "00198" "00469227" "00198" "00472358" "00198" "00472361" "00198" "00474573" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00138, 00198, 02022, 04214, 04222, 04235, 05378 ## Count = 464 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000043928" "04222" "00057280" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043929" "04222" "00057281" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043930" "04222" "00057282" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043931" "04222" "00057283" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043932" "04222" "00057284" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043933" "04222" "00057285" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043934" "04222" "00057286" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043935" "04222" "00057287" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043936" "04222" "00057288" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043937" "04222" "00057289" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043938" "04222" "00057290" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043939" "04222" "00057291" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043940" "04222" "00057292" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043941" "04222" "00057293" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043942" "04222" "00057294" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043943" "04222" "00057295" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043944" "04222" "00057296" "00006" "Unknown" "" "see paper; …, childhood; no systemic hypertension; no kidney disease; portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000043945" "04222" "00057297" "00006" "Unknown" "" "see paper; …, infantile" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000043946" "04222" "00057298" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043947" "04222" "00057299" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043948" "04222" "00057300" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043949" "04222" "00057301" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043950" "04222" "00057302" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043951" "04222" "00057303" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043952" "04222" "00057304" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043953" "04222" "00057305" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043954" "04222" "00057306" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043955" "04222" "00057307" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043956" "04222" "00057308" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043957" "04222" "00057309" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000043958" "04222" "00057310" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043959" "04222" "00057311" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043960" "04222" "00057312" "00006" "Familial, autosomal recessive" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043961" "04222" "00057313" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043962" "04222" "00057314" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043963" "04222" "00057315" "00006" "Familial, autosomal recessive" "" "see paper; …, infantile; systemic hypertension; nephromegaly, chronic renal insufficiency in second decade; portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043964" "04222" "00057316" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043965" "04222" "00057317" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043966" "04222" "00057318" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043967" "04222" "00057319" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043968" "04222" "00057320" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043969" "04222" "00057321" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal (neonatal death), sibling infantile; systemic hypertension; chronic renal insufficiency second decade; portal hypertension (20y sibling)" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043970" "04222" "00057322" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043971" "04222" "00057323" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043972" "04222" "00057324" "00006" "Familial, autosomal recessive" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043973" "04222" "00057325" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043974" "04222" "00057326" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043975" "04222" "00057327" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043976" "04222" "00057328" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043977" "04222" "00057329" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043978" "04222" "00057330" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043979" "04222" "00057331" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043980" "04222" "00057332" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043981" "04222" "00057333" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043982" "04222" "00057334" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043983" "04222" "00057335" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043984" "04222" "00057336" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043985" "04222" "00057337" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043986" "04222" "00057338" "00006" "Familial, autosomal recessive" "" "see paper; …, infantile; no systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043987" "04222" "00057339" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043988" "04222" "00057340" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043989" "04222" "00057341" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., severe, death perinatal" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043990" "04222" "00057342" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043991" "04222" "00057343" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000043992" "04222" "00057344" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043993" "04222" "00057345" "00006" "Unknown" "" "see paper; …, infantile; systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000043994" "04222" "00057346" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043995" "04222" "00057347" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043996" "04222" "00057348" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043997" "04222" "00057349" "00006" "Unknown" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000043998" "04222" "00057350" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043999" "04222" "00057351" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044000" "04222" "00057352" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044001" "04222" "00057353" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044002" "04222" "00057354" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044003" "04222" "00057355" "00006" "Familial, autosomal recessive" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044004" "04222" "00057356" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044005" "04222" "00057357" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044006" "04222" "00057358" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044007" "04222" "00057359" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044008" "04222" "00057360" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044009" "04222" "00057361" "00006" "Unknown" "" "see paper; …, infantile; systemic hypertension; nephromegaly, end-stage renal failure requiring renal replacement therapy in second decade w/transplant; no portal hypertension, hepatomegaly" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044010" "04222" "00057362" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044011" "04222" "00057363" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044012" "04222" "00057364" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044013" "04222" "00057365" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044014" "04222" "00057366" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044015" "04222" "00057367" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044016" "04222" "00057368" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044017" "04222" "00057369" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044018" "04222" "00057370" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044019" "04222" "00057371" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044020" "04222" "00057372" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044021" "04222" "00057373" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044022" "04222" "00057374" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044023" "04222" "00057375" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044024" "04222" "00057376" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044025" "04222" "00057377" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044026" "04222" "00057378" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044027" "04222" "00057379" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044028" "04222" "00057380" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044029" "04222" "00057381" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044030" "04222" "00057382" "00006" "Familial, autosomal recessive" "" "see paper; …, childhood; no systemic hypertension; nephromegaly; portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044031" "04222" "00057383" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044032" "04222" "00057384" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044033" "04222" "00057385" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044034" "04222" "00057386" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044035" "04222" "00057387" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044036" "04222" "00057388" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044037" "04222" "00057389" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044038" "04222" "00057390" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044039" "04222" "00057391" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044040" "04222" "00057392" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044041" "04222" "00057393" "00006" "Unknown" "" "see paper; …, childhood; systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044042" "04222" "00057394" "00006" "Unknown" "" "see paper; …, infantile; systemic hypertension; nephromegaly, chronic renal insufficiency; portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044043" "04222" "00057395" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044044" "04222" "00057396" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044045" "04222" "00057397" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044046" "04222" "00057398" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044047" "04222" "00057399" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044048" "04222" "00057400" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044049" "04222" "00057401" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044050" "04222" "00057402" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044051" "04222" "00057403" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044052" "04222" "00057404" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044053" "04222" "00057405" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044054" "04222" "00057406" "00006" "Familial, autosomal recessive" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044055" "04222" "00057407" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044056" "04222" "00057408" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044057" "04222" "00057409" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044058" "04222" "00057410" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044059" "04222" "00057411" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044060" "04222" "00057412" "00006" "Familial, autosomal recessive" "" "see paper; …, prenatal diagnosis with termination; no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044061" "04222" "00057413" "00006" "Familial, autosomal recessive" "" "see paper; …, infantile; systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044062" "04222" "00057414" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044063" "04222" "00057415" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044064" "04222" "00057416" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044065" "04222" "00057417" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044066" "04222" "00057418" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044067" "04222" "00057419" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044068" "04222" "00057420" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044069" "04222" "00057421" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044070" "04222" "00057422" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044071" "04222" "00057423" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044072" "04222" "00057424" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044073" "04222" "00057425" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044074" "04222" "00057426" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044075" "04222" "00057427" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044076" "04222" "00057428" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044077" "04222" "00057429" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044078" "04222" "00057430" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044079" "04222" "00057431" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044080" "04222" "00057432" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044081" "04222" "00057433" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044082" "04222" "00057434" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044083" "04222" "00057435" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044084" "04222" "00057436" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044085" "04222" "00057437" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044086" "04222" "00057438" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044087" "04222" "00057439" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044088" "04222" "00057440" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044089" "04222" "00057441" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044090" "04222" "00057442" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044091" "04222" "00057443" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044092" "04222" "00057444" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044093" "04222" "00057445" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044094" "04222" "00057446" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044095" "04222" "00057447" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044096" "04222" "00057448" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044097" "04222" "00057449" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044098" "04222" "00057450" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044099" "04222" "00057451" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044100" "04222" "00057452" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044101" "04222" "00057453" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044102" "04222" "00057454" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044103" "04222" "00057455" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044104" "04222" "00057456" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044105" "04222" "00057457" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044106" "04222" "00057458" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044107" "04222" "00057459" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044108" "04222" "00057460" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044109" "04222" "00057461" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044110" "04222" "00057462" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044111" "04222" "00057463" "00006" "Unknown" "" "see paper; …, infantile; systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044112" "04222" "00057464" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044113" "04222" "00057465" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044114" "04222" "00057466" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044115" "04222" "00057467" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044116" "04222" "00057468" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044117" "04222" "00057469" "00006" "Familial, autosomal recessive" "" "see paper; …, infantile; systemic hypertension; nephromegaly, end-stage renal failure requiring renal replacement therapy in mid-20s w/transplant; no portal hypertension, hepatomegaly" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044118" "04222" "00057470" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044119" "04222" "00057471" "00006" "Unknown" "" "see paper; …, childhood; no systemic hypertension; no kidney disease; portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044120" "04222" "00057472" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044121" "04222" "00057473" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044122" "04222" "00057474" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044123" "04222" "00057475" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044124" "04222" "00057476" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044125" "04222" "00057477" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044126" "04222" "00057478" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044127" "04222" "00057479" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044128" "04222" "00057480" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044129" "04222" "00057481" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044130" "04222" "00057482" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044131" "04222" "00057483" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044132" "04222" "00057484" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044133" "04222" "00057485" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044134" "04222" "00057486" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044135" "04222" "00057487" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044136" "04222" "00057488" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044137" "04222" "00057489" "00006" "Unknown" "" "see paper; …, perinatal; systemic hypertension; end-stage renal failure requiring renal replacement therapy in second decade; no portal hypertension; sibling perinatal (neonatal death)" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044138" "04222" "00057490" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044139" "04222" "00057491" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044140" "04222" "00057492" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044141" "04222" "00057493" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044142" "04222" "00057494" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044143" "04222" "00057495" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044144" "04222" "00057496" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044145" "04222" "00057497" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044146" "04222" "00057498" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044147" "04222" "00057499" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044148" "04222" "00057500" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044149" "04222" "00057501" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044150" "04222" "00057502" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044151" "04222" "00057503" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044152" "04222" "00057504" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044153" "04222" "00057505" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044154" "04222" "00057506" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044155" "04222" "00057507" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044156" "04222" "00057508" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044157" "04222" "00057509" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044158" "04222" "00057510" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044159" "04222" "00057511" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044160" "04222" "00057512" "00006" "Familial, autosomal recessive" "" "see paper; …, prenatal diagnosis with termination, sibling perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044161" "04222" "00057513" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044162" "04222" "00057514" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044163" "04222" "00057515" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044164" "04222" "00057516" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044165" "04222" "00057517" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044166" "04222" "00057518" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044167" "04222" "00057519" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044168" "04222" "00057520" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044169" "04222" "00057521" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044170" "04222" "00057522" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044171" "04222" "00057523" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044172" "04222" "00057524" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044173" "04222" "00057525" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044174" "04222" "00057526" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044175" "04222" "00057527" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044176" "04222" "00057528" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044177" "04222" "00057529" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044178" "04222" "00057530" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044179" "04222" "00057531" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044180" "04222" "00057532" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044181" "04222" "00057533" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044182" "04222" "00057534" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044183" "04222" "00057535" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044184" "04222" "00057536" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044185" "04222" "00057537" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044186" "04222" "00057538" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044187" "04222" "00057539" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044188" "04222" "00057540" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044189" "04222" "00057541" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044190" "04222" "00057542" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044191" "04222" "00057543" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044192" "04222" "00057544" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044193" "04222" "00057545" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044194" "04222" "00057546" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044195" "04222" "00057547" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044196" "04222" "00057548" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044197" "04222" "00057549" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044198" "04222" "00057550" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044199" "04222" "00057551" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044200" "04222" "00057552" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044201" "04222" "00057553" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044202" "04222" "00057554" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044203" "04222" "00057555" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044204" "04222" "00057556" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044205" "04222" "00057557" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044206" "04222" "00057558" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044207" "04222" "00057559" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044208" "04222" "00057560" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044209" "04222" "00057561" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044210" "04222" "00057562" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044211" "04222" "00057563" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044212" "04222" "00057564" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044213" "04222" "00057565" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044214" "04222" "00057566" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044215" "04222" "00057567" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044216" "04222" "00057568" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044217" "04222" "00057569" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044218" "04222" "00057570" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044219" "04222" "00057571" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044220" "04222" "00057572" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044221" "04222" "00057573" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044222" "04222" "00057574" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044223" "04222" "00057575" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044224" "04222" "00057576" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044225" "04222" "00057577" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044226" "04222" "00057578" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal onset" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044227" "04222" "00057579" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044228" "04222" "00057580" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044229" "04222" "00057581" "00006" "Unknown" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044230" "04222" "00057582" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044231" "04222" "00057583" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044232" "04222" "00057584" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044233" "04222" "00057585" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044234" "04222" "00057586" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044235" "04222" "00057587" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044236" "04222" "00057588" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044237" "04222" "00057589" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044238" "04222" "00057590" "00006" "Familial, autosomal recessive" "" "see paper; …, prenatal diagnosis with termination; no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044239" "04222" "00057591" "00006" "Familial, autosomal recessive" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044240" "04222" "00057592" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044241" "04222" "00057593" "00006" "Unknown" "" "see paper; …, perinatal (neonatal death); systemic hypertension; nephromegaly" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044242" "04222" "00057594" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044243" "04222" "00057595" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044244" "04222" "00057596" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044245" "04222" "00057597" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044246" "04222" "00057598" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044247" "04222" "00057599" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044248" "04222" "00057600" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044249" "04222" "00057601" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044250" "04222" "00057602" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044251" "04222" "00057603" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044252" "04222" "00057604" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044253" "04222" "00057605" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044254" "04222" "00057606" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044255" "04222" "00057607" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044256" "04222" "00057608" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044257" "04222" "00057609" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal onset" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044258" "04222" "00057610" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044259" "04222" "00057611" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044260" "04222" "00057612" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044261" "04222" "00057613" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., severe, death perinatal" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000044262" "04222" "00057614" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044263" "04222" "00057615" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044264" "04222" "00057616" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044265" "04222" "00057617" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044266" "04222" "00057618" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044267" "04222" "00057619" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044268" "04222" "00057620" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044269" "04222" "00057621" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044270" "04222" "00057622" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044271" "04222" "00057623" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044272" "04222" "00057624" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044273" "04222" "00057625" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044274" "04222" "00057626" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044275" "04222" "00057627" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044276" "04222" "00057628" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044277" "04222" "00057629" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044278" "04222" "00057630" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044279" "04222" "00057631" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044280" "04222" "00057632" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044281" "04222" "00057633" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044282" "04222" "00057634" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044283" "04222" "00057635" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044284" "04222" "00057636" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044285" "04222" "00057637" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044286" "04222" "00057638" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044287" "04222" "00057639" "00006" "Familial, autosomal recessive" "" "see paper; …, perinatal death, oligohydramnios, enlarged kidneys, 32wg-pepper and salt pattern in prenatal ultrasound, respiratory distress, postmortem with characteristic ARPKD findings liver/kidneys" "" "" "" "" "" "" "" "" "" "" "" "<0d" "PKD4" "" "0000044288" "04222" "00057640" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044289" "04222" "00057641" "00006" "Unknown" "" "see paper; …, later onset" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000044290" "04222" "00057642" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044291" "04222" "00057643" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044292" "04222" "00057644" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044293" "04222" "00057645" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044294" "04222" "00057646" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044295" "04222" "00057647" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044296" "04222" "00057648" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044297" "04222" "00057649" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044298" "04222" "00057650" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044299" "04222" "00057651" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044300" "04222" "00057652" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044301" "04222" "00057653" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044302" "04222" "00057654" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044303" "04222" "00057655" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044304" "04222" "00057656" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044305" "04222" "00057657" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060403" "02022" "00080834" "01758" "Familial, autosomal recessive" "" "Polycystic kidney and hepatic disease (OMIM:263200)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185486" "04235" "00245548" "00029" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "FSHD-2" "facioscapulohumeral muscular dystrophy" "" "0000210146" "02022" "00275525" "02473" "Familial, autosomal recessive" "04y" "Hypertension\r\nCKD\r\nCongenital hepatic fibrosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210147" "02022" "00275526" "02473" "Familial, autosomal recessive" "00y01m" "Hypertension\r\nCKD\r\nCongestive heart failure" "" "" "prenatal" "" "" "" "" "" "" "" "" "" "" "" "0000210148" "02022" "00275527" "02473" "Familial, autosomal recessive" "00y01m" "Hypertension\r\nCongenital hepatic fibrosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229771" "04222" "00302687" "03601" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229772" "04222" "00302688" "03601" "Familial, autosomal recessive" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229773" "04222" "00302689" "03601" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229774" "04222" "00302690" "03601" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229776" "04222" "00302692" "03601" "Familial, autosomal recessive" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229777" "04222" "00302693" "03601" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229778" "04222" "00302694" "03601" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229779" "04222" "00302695" "03601" "Familial, autosomal recessive" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229782" "04222" "00302698" "03601" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229785" "04222" "00302701" "03601" "Familial, autosomal recessive" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229786" "04222" "00302702" "03601" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229787" "04222" "00302703" "03601" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229788" "04222" "00302704" "03601" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229789" "04222" "00302705" "03601" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229794" "04222" "00302710" "03601" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229799" "04222" "00302715" "03601" "Familial, autosomal recessive" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000229806" "04222" "00302722" "03601" "Familial, autosomal recessive" "2d" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "unspecific cystic kidney disease" "" "0000229807" "04222" "00302723" "03601" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "autosomal dominant kidney disease" "" "0000238693" "02022" "00314937" "03828" "Familial, autosomal recessive" "" "oligohydramnios (HP:0001562), abnormality intrahepatic bile duct (HP:0011040), enlarged kidney (HP:0000105), polycystic kidney dysplasia (HP:0000113), congenital hepatic fibrosis (HP:0002612)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238716" "02022" "00314957" "03828" "Familial, autosomal recessive" "" "oligohydramnios (HP:0001562)，enlarged kidney (HP:0000105)" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "" "" "0000288222" "04214" "00395022" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000294762" "04222" "00401999" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000296366" "04222" "00403634" "00006" "Familial, autosomal recessive" "" "see paper; ..., perinatal onset" "" "" "" "" "" "" "" "" "" "" "" "pkd4" "polycystic kidney disease" "" "0000296367" "04222" "00403635" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296368" "04222" "00403636" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296369" "04222" "00403637" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296370" "04222" "00403638" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296371" "04222" "00403639" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296372" "04222" "00403640" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296373" "04222" "00403641" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296374" "04222" "00403642" "00006" "Unknown" "" "prenatal diagnosis with termination; no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296375" "04222" "00403643" "00006" "Unknown" "" "perinatal (neonatal death); no systemic hypertension; nephromegaly; no portal hypertension" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296376" "04222" "00403644" "00006" "Unknown" "" "infantile; systemic hypertension; nephromegaly; portal hypertension, Caroli disease" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000296377" "04222" "00403645" "00006" "Unknown" "" "childhood; systemic hypertension; chronic renal insufficiency second decade" "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000299821" "04214" "00407674" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 12, extra-renal manifestations: retinal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299822" "04214" "00407675" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 12.9, extra-renal manifestations: optic nerve anomaly" "" "" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000299825" "04214" "00407678" "00000" "Familial, autosomal recessive" "" "chronic kidney disease, extra-renal manifestations: Caroli disease" "" "" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000306285" "00198" "00414450" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Polycystic Kidney Disease" "" "" "0000306500" "04214" "00414705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "Lesch-Nyhan syndrome" "" "" "0000307054" "04214" "00415256" "00000" "Familial, autosomal recessive" "" "OMIM: 263200; developmental delay, speech delay, and hepatomegaly" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" "0000310831" "00198" "00419550" "02300" "Isolated (sporadic)" "38y" "polycystic kidney disease (36y-onset symptoms)" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000310928" "00198" "00419647" "02300" "Familial, autosomal recessive" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000330355" "00198" "00440445" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive polycystic kidney disease (MIM #263200)" "" "" "0000338042" "04222" "00448867" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000338051" "04222" "00448876" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000342070" "04222" "00453407" "00006" "Familial, autosomal recessive" "18y" "bilateral multiple corticomedullar cysts and microcalcifications" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000342072" "04222" "00453409" "00006" "Familial, autosomal recessive" "0y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000342074" "04222" "00453411" "00006" "Familial, autosomal recessive" "0y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000342075" "04222" "00453412" "00006" "Familial, autosomal recessive" "0y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000342076" "04222" "00453413" "00006" "Familial, autosomal recessive" "4y" "bilateral polycystic kidneys in ultrasound" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000346127" "04222" "00457668" "00006" "Familial, autosomal recessive" "" "see paper; ..., cystic kidney disease; abnormality urine homeostasis; abnormality urethra; abnormality kidney; abnormal renal morphology" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "cystic kidney disease" "" "0000351941" "04222" "00466578" "02473" "Familial, autosomal recessive" "00y00m" "Oligohydramnios, bilateral renal enlargement, pulmonary hypoplasia, weak cry, gasping, cyanosis, dysmorphic features." "" "00y00m" "" "" "" "" "" "" "" "" "" "PKD4" "ARPKD" "" "0000351943" "04222" "00466580" "02473" "Familial, autosomal recessive" "00y00m" "Polycystic kidneys, pulmonary hypoplasia, pneumothorax, dysmorphic features, renal cysts" "" "" "0m" "" "" "renal" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000351944" "04222" "00466581" "02473" "Familial, autosomal recessive" "00y00m" "Oligohydramnios, enlarged kidneys, pulmonary hypoplasia, dysmorphic features, renal cysts" "00y00m" "00y00m" "" "" "" "renal" "" "" "" "" "" "PKD4" "ARPKD" "" "0000351946" "04222" "00466582" "02473" "Familial, autosomal recessive" "00y00m" "Oligohydramnios, enlarged kidneys, pulmonary hypoplasia, dysmorphic features, renal cysts" "00y00m" "00y00m" "0m" "" "" "renal" "" "" "" "" "" "PKD4" "ARPKD" "" "0000351949" "04222" "00466585" "02473" "Familial, autosomal recessive" "00y00m" "Multiple congenital anomalies, oligohydramnios, breech presentation, pulmonary hypoplasia, bilateral kidney masses, renal cysts" "00y00m" "00y00m" "0m" "" "" "renal" "" "" "" "" "" "PKD4" "ARPKD" "" "0000352022" "02022" "00466658" "02473" "Familial, autosomal recessive" "00y00m" "Multiple congenital anomalies, bilateral palpable kidney masses, dysmorphic features." "00y00m" "00y00m" "" "" "" "" "" "" "" "" "" "ARPKD" "ARPKD" "" "0000352246" "04222" "00466886" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., death prerinatal, respiratory distress, postmortem with characteristic ARPKD findings liver/kidneys" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352247" "04222" "00466887" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., 5y-deceased; 5y-end-stage renal disease; neonatal respiratory distress,anemia, growth retardation, respiratory distress, postmortem with characteristic ARPKD findings liver/kidneys; 2y-arterial hypertension" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352248" "04222" "00466889" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., 14y-deceased end-stage renal disease, peritonitis" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352249" "04222" "00466890" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., 3y-deceased end-stage renal disease, sepsis" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352253" "04222" "00467043" "00006" "Familial, autosomal recessive" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352254" "04222" "00467044" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe, death perinatal" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352255" "04222" "00467045" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352256" "04222" "00467046" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352257" "04222" "00467047" "00006" "Familial, autosomal recessive" "" "see paper; ..., variable severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352258" "04222" "00467048" "00006" "Familial, autosomal recessive" "" "see paper; ..., variable severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352259" "04222" "00467049" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate severity" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352260" "04222" "00467050" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352261" "04222" "00467051" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352262" "04222" "00467052" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352263" "04222" "00467053" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352264" "04222" "00467054" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe, death perinatal" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352265" "04222" "00467055" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe, death perinatal" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352266" "04222" "00467056" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe; termination of pregnancy" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000352267" "04222" "00467057" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe; termination of pregnancy" "" "" "" "" "" "" "" "" "" "" "" "PKD4" "polycystic kidney disease" "" "0000354379" "00198" "00469226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354380" "00198" "00469227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000357160" "00198" "00472358" "04908" "Familial, autosomal dominant" "42" "Minimal change glomerulo-nephritis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000357163" "00198" "00472361" "04908" "Familial, autosomal dominant" "" "Hypertensive disease, diabetes, one cyst in one kidney and one cyst in spleen, positive family history of kidney disease" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000359365" "00198" "00474573" "00006" "Unknown" "" "Spina bifida; Polycystic kidney; hepatic fibrosis (Renal)" "" "" "" "" "" "" "" "" "" "" "" "Polycystic kidney disease" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 680 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000007" "00000007" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000016" "00000016" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000058" "00000058" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000066" "00000066" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000085" "00000085" "1" "00004" "" "2012-05-11 13:19:11" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000100" "00000100" "1" "00004" "" "2012-05-11 13:19:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000057241" "00057280" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057242" "00057281" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057243" "00057282" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057244" "00057283" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057245" "00057284" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057246" "00057285" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057247" "00057286" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057248" "00057287" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057249" "00057288" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057250" "00057289" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057251" "00057290" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057252" "00057291" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057253" "00057292" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057254" "00057293" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057255" "00057294" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057256" "00057295" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057257" "00057296" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057258" "00057297" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057259" "00057298" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057260" "00057299" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057261" "00057300" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057262" "00057301" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057263" "00057302" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057264" "00057303" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057265" "00057304" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057266" "00057305" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057267" "00057306" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057268" "00057307" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057269" "00057308" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057270" "00057309" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057271" "00057310" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057272" "00057311" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057273" "00057312" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057274" "00057313" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057275" "00057314" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057276" "00057315" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057277" "00057316" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057278" "00057317" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057279" "00057318" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057280" "00057319" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057281" "00057320" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057282" "00057321" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057283" "00057322" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057284" "00057323" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057285" "00057324" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057286" "00057325" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057287" "00057326" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057288" "00057327" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057289" "00057328" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057290" "00057329" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057291" "00057330" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057292" "00057331" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057293" "00057332" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057294" "00057333" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057295" "00057334" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057296" "00057335" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057297" "00057336" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057298" "00057337" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057299" "00057338" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057300" "00057339" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057301" "00057340" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057302" "00057341" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057303" "00057342" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057304" "00057343" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057305" "00057344" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057306" "00057345" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057307" "00057346" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057308" "00057347" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057309" "00057348" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057310" "00057349" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057311" "00057350" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057312" "00057351" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057313" "00057352" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057314" "00057353" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057315" "00057354" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057316" "00057355" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057317" "00057356" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057318" "00057357" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057319" "00057358" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057320" "00057359" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057321" "00057360" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057322" "00057361" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057323" "00057362" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057324" "00057363" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057325" "00057364" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057326" "00057365" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057327" "00057366" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057328" "00057367" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057329" "00057368" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057330" "00057369" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057331" "00057370" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057332" "00057371" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057333" "00057372" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057334" "00057373" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057335" "00057374" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057336" "00057375" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057337" "00057376" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057338" "00057377" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057339" "00057378" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057340" "00057379" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057341" "00057380" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057342" "00057381" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057343" "00057382" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057344" "00057383" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057345" "00057384" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057346" "00057385" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057347" "00057386" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057348" "00057387" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057349" "00057388" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057350" "00057389" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057351" "00057390" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057352" "00057391" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057353" "00057392" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057354" "00057393" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057355" "00057394" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057356" "00057395" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057357" "00057396" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057358" "00057397" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057359" "00057398" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057360" "00057399" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057361" "00057400" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057362" "00057401" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057363" "00057402" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057364" "00057403" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057365" "00057404" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057366" "00057405" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057367" "00057406" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057368" "00057407" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057369" "00057408" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057370" "00057409" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057371" "00057410" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057372" "00057411" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057373" "00057412" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057374" "00057413" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057375" "00057414" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057376" "00057415" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057377" "00057416" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057378" "00057417" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057379" "00057418" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057380" "00057419" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057381" "00057420" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057382" "00057421" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057383" "00057422" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057384" "00057423" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057385" "00057424" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057386" "00057425" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057387" "00057426" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057388" "00057427" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057389" "00057428" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057390" "00057429" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057391" "00057430" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057392" "00057431" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057393" "00057432" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057394" "00057433" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057395" "00057434" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057396" "00057435" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057397" "00057436" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057398" "00057437" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057399" "00057438" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057400" "00057439" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057401" "00057440" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057402" "00057441" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057403" "00057442" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057404" "00057443" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057405" "00057444" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057406" "00057445" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057407" "00057446" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057408" "00057447" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057409" "00057448" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057410" "00057449" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057411" "00057450" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057412" "00057451" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057413" "00057452" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057414" "00057453" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057415" "00057454" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057416" "00057455" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057417" "00057456" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057418" "00057457" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057419" "00057458" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057420" "00057459" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057421" "00057460" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057422" "00057461" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057423" "00057462" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057424" "00057463" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057425" "00057464" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057426" "00057465" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057427" "00057466" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057428" "00057467" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057429" "00057468" "1" "00006" "00006" "2016-01-23 03:23:58" "00006" "2025-10-03 14:52:06" "PCRq;SEQ" "DNA" "" "" "0000057430" "00057469" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057431" "00057470" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057432" "00057471" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057433" "00057472" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057434" "00057473" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057435" "00057474" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057436" "00057475" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057437" "00057476" "1" "00006" "00006" "2016-01-23 03:23:58" "00006" "2025-10-03 15:05:14" "PCRq;SEQ" "DNA" "" "" "0000057438" "00057477" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057439" "00057478" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057440" "00057479" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057441" "00057480" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057442" "00057481" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057443" "00057482" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057444" "00057483" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057445" "00057484" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057446" "00057485" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057447" "00057486" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057448" "00057487" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" 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"0000057614" "00057653" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057615" "00057654" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057616" "00057655" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057617" "00057656" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000057618" "00057657" "1" "00006" "00006" "2016-01-23 03:23:58" "" "" "SEQ" "DNA" "" "" "0000080946" "00080834" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165891" "00165021" "1" "02509" "02509" "2018-06-20 16:55:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000165892" "00165022" "1" "02509" "02509" "2018-06-20 16:57:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000246660" "00245548" "1" "00029" "00029" "2019-04-09 12:07:45" "" "" "PCRdig;PFGE;SEQ;Southern" "DNA" "" "" "0000276684" "00275525" "1" "02473" "02473" "2020-01-06 12:20:48" "" "" "PCR" "DNA" "" "" "0000276685" "00275526" "1" "02473" "02473" "2020-01-06 12:35:31" "" "" "PCR" "DNA" "" "" "0000276686" "00275527" "1" "02473" "02473" "2020-01-06 12:44:54" "" "" "PCR" "DNA" "" "" "0000295306" "00294138" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295307" "00294139" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295308" "00294140" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295309" "00294141" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295310" "00294142" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295311" "00294143" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295312" "00294144" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295313" "00294145" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295314" "00294146" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295315" "00294147" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295316" "00294148" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295317" "00294149" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295318" "00294150" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295319" "00294151" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295320" "00294152" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296378" "00295210" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296482" "00295314" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303813" "00302687" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303814" "00302688" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303815" "00302689" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303816" "00302690" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303818" "00302692" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303819" "00302693" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303820" "00302694" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303821" "00302695" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303824" "00302698" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303827" "00302701" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303828" "00302702" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303829" "00302703" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303830" "00302704" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303831" "00302705" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303836" "00302710" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303841" "00302715" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303848" "00302722" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000303849" "00302723" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000306234" "00305105" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316112" "00314937" "1" "03828" "03828" "2020-10-22 04:12:42" "03828" "2020-10-22 07:07:39" "SEQ-NG" "DNA" "skin" "WES" "0000316133" "00314957" "1" "03828" "03828" "2020-10-23 07:19:59" "" "" "SEQ-NG-I" "DNA" "skin" "WES" "0000396268" "00395022" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000403240" "00401999" "1" "00006" "00006" "2022-02-03 17:20:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000404873" "00403634" "1" "00006" "00006" "2022-02-20 12:18:42" "" "" "SEQ" "DNA" "" "" "0000404874" "00403635" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404875" "00403636" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404876" "00403637" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404877" "00403638" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404878" "00403639" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404879" "00403640" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404880" "00403641" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404881" "00403642" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404882" "00403643" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404883" "00403644" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404884" "00403645" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404885" "00403646" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404886" "00403647" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404887" "00403648" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404888" "00403649" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404889" "00403650" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404890" "00403651" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404891" "00403652" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404892" "00403653" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404893" "00403654" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404894" "00403655" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404895" "00403656" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404896" "00403657" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404897" "00403658" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404898" "00403659" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404899" "00403660" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404900" "00403661" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404901" "00403662" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404902" "00403663" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404903" "00403664" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404904" "00403665" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404905" "00403666" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404906" "00403667" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404907" "00403668" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404908" "00403669" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404909" "00403670" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404910" "00403671" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404911" "00403672" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404912" "00403673" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404913" "00403674" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404914" "00403675" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404915" "00403676" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404916" "00403677" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404917" "00403678" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404918" "00403679" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404919" "00403680" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404920" "00403681" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000404921" "00403682" "1" "00006" "00006" "2022-02-20 14:42:24" "" "" "SEQ" "DNA" "" "" "0000408926" "00407674" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408927" "00407675" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000408930" "00407678" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000415730" "00414450" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415986" "00414705" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000416538" "00415256" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000420854" "00419550" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420951" "00419647" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437907" "00436423" "1" "04556" "04556" "2023-09-15 08:00:51" "" "" "SEQ-NG-I" "DNA" "blood" "wes" "0000441930" "00440445" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450458" "00448867" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450467" "00448876" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455018" "00453407" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455020" "00453409" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455022" "00453411" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455023" "00453412" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455024" "00453413" "1" "00006" "00006" "2024-08-21 10:09:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459288" "00457668" "1" "00006" "00006" "2024-11-15 17:56:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000468241" "00466578" "1" "02473" "02473" "2025-09-15 10:26:18" "" "" "PCR" "DNA" "" "" "0000468243" "00466580" "1" "02473" "02473" "2025-09-15 12:47:28" "" "" "SEQ" "DNA" "" "" "0000468244" "00466581" "1" "02473" "02473" "2025-09-15 12:57:48" "" "" "SEQ" "DNA" "" "" "0000468245" "00466582" "1" "02473" "02473" "2025-09-15 13:03:01" "" "" "SEQ" "DNA" "" "" "0000468249" "00466585" "1" "02473" "02473" "2025-09-15 13:06:53" "" "" "SEQ" "DNA" "" "" "0000468322" "00466658" "1" "02473" "02473" "2025-09-18 22:22:58" "" "" "SEQ-NG" "DNA" "" "" "0000468549" "00466886" "1" "00006" "00006" "2025-10-03 15:40:43" "" "" "SEQ" "DNA" "" "" "0000468550" "00466887" "1" "00006" "00006" "2025-10-03 15:46:37" "" "" "SEQ" "DNA" "" "" "0000468551" "00466889" "1" "00006" "00006" "2025-10-03 15:51:48" "" "" "PCRq;SEQ" "DNA" "" "" "0000468552" "00466890" "1" "00006" "00006" "2025-10-03 16:07:37" "" "" "PCRq;SEQ" "DNA" "" "" "0000468554" "00466891" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468555" "00466892" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468556" "00466893" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468557" "00466894" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468558" "00466895" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468559" "00466896" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468560" "00466897" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468561" "00466898" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468562" "00466899" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468563" "00466900" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468564" "00466901" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468565" "00466902" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468566" "00466903" "1" "00006" "00006" "2025-10-03 16:49:04" "" "" "SEQ" "DNA" "" "" "0000468568" "00466904" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468569" "00466905" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468570" "00466906" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468571" "00466907" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468572" "00466908" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468573" "00466909" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468574" "00466910" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468575" "00466911" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468576" "00466912" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468577" "00466913" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468578" "00466914" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468579" "00466915" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468580" "00466916" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468581" "00466917" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468582" "00466918" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468583" "00466919" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468584" "00466920" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468585" "00466921" "1" 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"2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468630" "00466966" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468631" "00466967" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468632" "00466968" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468633" "00466969" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468634" "00466970" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468635" "00466971" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468636" "00466972" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468637" "00466973" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468638" "00466974" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468639" "00466975" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468640" "00466976" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468641" "00466977" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468642" "00466978" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468643" "00466979" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468644" "00466980" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468645" "00466981" "1" "00006" "00006" "2025-10-03 18:34:37" "" "" "SEQ" "DNA" "" "" "0000468646" "00466982" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468647" "00466983" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468648" "00466984" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468649" "00466985" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468650" "00466986" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468651" "00466987" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468652" "00466988" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468653" "00466989" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468654" "00466990" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468655" "00466991" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468656" "00466992" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468657" "00466993" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468658" "00466994" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468659" "00466995" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468660" "00466996" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468661" "00466997" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468662" "00466998" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468663" "00466999" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468664" "00467000" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468665" "00467001" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468666" "00467002" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468667" "00467003" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468668" "00467004" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468669" "00467005" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468670" "00467006" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468671" "00467007" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468672" "00467008" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468673" "00467009" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468674" "00467010" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468675" "00467011" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468676" "00467012" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468677" "00467013" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468678" "00467014" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468679" "00467015" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468680" "00467016" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468681" "00467017" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468682" "00467018" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468683" "00467019" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468684" "00467020" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468685" "00467021" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468686" "00467022" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468687" "00467023" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468688" "00467024" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468689" "00467025" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468690" "00467026" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468691" "00467027" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468692" "00467028" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468693" "00467029" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468694" "00467030" "1" "00006" "00006" "2025-10-03 18:46:54" "" "" "SEQ" "DNA" "" "" "0000468695" "00467031" "1" "00006" "00006" 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"DHPLC;SEQ" "DNA" "" "" "0000468720" "00467057" "1" "00006" "00006" "2025-10-04 17:58:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000470894" "00469226" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470895" "00469227" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474027" "00472358" "1" "04908" "04908" "2026-02-04 03:05:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000474031" "00472361" "1" "04908" "04908" "2026-02-04 03:50:02" "" "" "SEQ-NG" "DNA" "" "" "0000476255" "00474573" "1" "00006" "00006" "2026-03-19 11:30:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 762 "{{screeningid}}" "{{geneid}}" "0000000005" "ACADM" "0000000005" "ATP7B" "0000000005" "CFTR" "0000000005" "ETFB" "0000000005" "GLB1" "0000000005" "MEFV" "0000000005" "NHLRC1" "0000000005" "PKHD1" "0000000005" "RAPSN" "0000000005" "SERPINA1" "0000000005" "SLC26A2" "0000000005" "USH2A" "0000000007" "ACADM" 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"PKHD1" "0000468635" "PKHD1" "0000468636" "PKHD1" "0000468637" "PKHD1" "0000468638" "PKHD1" "0000468639" "PKHD1" "0000468640" "PKHD1" "0000468641" "PKHD1" "0000468642" "PKHD1" "0000468643" "PKHD1" "0000468644" "PKHD1" "0000468645" "PKHD1" "0000468646" "PKHD1" "0000468647" "PKHD1" "0000468648" "PKHD1" "0000468649" "PKHD1" "0000468650" "PKHD1" "0000468651" "PKHD1" "0000468652" "PKHD1" "0000468653" "PKHD1" "0000468654" "PKHD1" "0000468655" "PKHD1" "0000468656" "PKHD1" "0000468657" "PKHD1" "0000468658" "PKHD1" "0000468659" "PKHD1" "0000468660" "PKHD1" "0000468661" "PKHD1" "0000468662" "PKHD1" "0000468663" "PKHD1" "0000468664" "PKHD1" "0000468665" "PKHD1" "0000468666" "PKHD1" "0000468667" "PKHD1" "0000468668" "PKHD1" "0000468669" "PKHD1" "0000468670" "PKHD1" "0000468671" "PKHD1" "0000468672" "PKHD1" "0000468673" "PKHD1" "0000468674" "PKHD1" "0000468675" "PKHD1" "0000468676" "PKHD1" "0000468677" "PKHD1" "0000468678" "PKHD1" "0000468679" "PKHD1" "0000468680" "PKHD1" "0000468681" "PKHD1" "0000468682" "PKHD1" "0000468683" "PKHD1" "0000468684" "PKHD1" "0000468685" "PKHD1" "0000468686" "PKHD1" "0000468687" "PKHD1" "0000468688" "PKHD1" "0000468689" "PKHD1" "0000468690" "PKHD1" "0000468691" "PKHD1" "0000468692" "PKHD1" "0000468693" "PKHD1" "0000468694" "PKHD1" "0000468695" "PKHD1" "0000468696" "PKHD1" "0000468697" "PKHD1" "0000468698" "PKHD1" "0000468699" "PKHD1" "0000468700" "PKHD1" "0000468701" "PKHD1" "0000468702" "PKHD1" "0000468706" "PKHD1" "0000468707" "PKHD1" "0000468708" "PKHD1" "0000468709" "PKHD1" "0000468710" "PKHD1" "0000468711" "PKHD1" "0000468712" "PKHD1" "0000468713" "PKHD1" "0000468714" "PKHD1" "0000468715" "PKHD1" "0000468716" "PKHD1" "0000468717" "PKHD1" "0000468718" "PKHD1" "0000468719" "PKHD1" "0000468720" "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 = 1254 "{{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}}" "0000001210" "1" "50" "6" "51524339" "51524339" "subst" "0.00289374" "00002" "PKHD1_000001" "g.51524339C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51659541C>G" "" "benign" "" "0000001212" "0" "50" "6" "51917987" "51917987" "subst" "0.0017851" "00002" "PKHD1_000003" "g.51917987G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52053189G>C" "" "VUS" "" "0000001213" "0" "50" "6" "51917987" "51917987" "subst" "0.0017851" "00002" "PKHD1_000003" "g.51917987G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52053189G>C" "" "VUS" "" "0000001214" "0" "50" "6" "51611651" "51611651" "subst" "0.00320982" "00002" "PKHD1_000004" "g.51611651C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51746853C>A" "" "VUS" "" "0000001215" "0" "50" "6" "51611651" "51611651" "subst" "0.00320982" "00002" "PKHD1_000004" "g.51611651C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51746853C>A" "" "VUS" "" "0000001216" "0" "50" "6" "51611651" "51611651" "subst" "0.00320982" "00002" "PKHD1_000004" "g.51611651C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51746853C>A" "" "VUS" "" "0000001217" "0" "50" "6" "51752011" "51752011" "subst" "0" "00002" "PKHD1_000005" "g.51752011G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51887213G>T" "" "VUS" "" "0000001218" "3" "50" "6" "51893107" "51893107" "subst" "0.00773686" "00002" "PKHD1_000006" "g.51893107T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52028309T>C" "" "VUS" "" "0000001219" "0" "50" "6" "51612626" "51612626" "subst" "0.0016469" "00002" "PKHD1_000007" "g.51612626A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51747828A>G" "" "VUS" "" "0000001220" "0" "50" "6" "51612999" "51612999" "subst" "0.00417026" "00002" "PKHD1_000008" "g.51612999C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51748201C>A" "" "VUS" "" "0000001221" "0" "50" "6" "51768795" "51768795" "subst" "0.00129577" "00002" "PKHD1_000009" "g.51768795C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51903997C>T" "" "VUS" "" "0000087535" "1" "10" "6" "51524339" "51524339" "subst" "0.00289374" "00006" "PKHD1_000001" "g.51524339C>G" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "rs145184792" "0" "" "" "g.51659541C>G" "" "benign" "" "0000087536" "1" "10" "6" "51917987" "51917987" "subst" "0.0017851" "00006" "PKHD1_000003" "g.51917987G>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "rs115045643" "0" "" "" "g.52053189G>C" "" "benign" "" "0000087537" "1" "70" "6" "51923291" "51923291" "subst" "0.00158602" "00006" "PKHD1_000002" "g.51923291C>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs149781976" "0" "" "" "g.52058493C>G" "" "likely pathogenic" "" "0000087538" "1" "10" "6" "51611651" "51611651" "subst" "0.00320982" "00006" "PKHD1_000004" "g.51611651C>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs148932323" "0" "" "" "g.51746853C>A" "" "benign" "" "0000087539" "1" "10" "6" "51612626" "51612626" "subst" "0.0016469" "00006" "PKHD1_000007" "g.51612626A>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs146519878" "0" "" "" "g.51747828A>G" "" "benign" "" "0000087540" "1" "10" "6" "51893107" "51893107" "subst" "0.00773686" "00006" "PKHD1_000006" "g.51893107T>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs41273726" "0" "" "" "g.52028309T>C" "" "benign" "" "0000087541" "1" "30" "6" "51768795" "51768795" "subst" "0.00129577" "00006" "PKHD1_000009" "g.51768795C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs142526715" "0" "" "" "g.51903997C>T" "" "likely benign" "" "0000087542" "1" "90" "6" "51752011" "51752011" "subst" "0" "00006" "PKHD1_000005" "g.51752011G>T" "" "{PMID:Bell 2011:21228398}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51887213G>T" "" "pathogenic" "" "0000087543" "3" "70" "6" "51889738" "51889738" "subst" "0.000158417" "00006" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Onuchic 2002:11898128}" "" "0" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000087544" "21" "90" "6" "51609264" "51609264" "del" "0" "00006" "PKHD1_000010" "g.51609264del" "" "{PMID:Onuchic 2002:11898128}" "" "10075delG" "" "Germline" "" "" "0" "" "" "g.51744466del" "" "pathogenic" "" "0000087545" "21" "90" "6" "51897886" "51897886" "del" "0" "00006" "PKHD1_000011" "g.51897886del" "" "{PMID:Onuchic 2002:11898128}" "" "3306delT" "" "Germline" "" "" "0" "" "" "g.52033088del" "" "pathogenic" "" "0000087546" "1" "30" "6" "51935807" "51935807" "subst" "0.000101771" "00006" "PKHD1_000012" "g.51935807T>C" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52071009T>C" "" "likely benign" "" "0000087547" "1" "90" "6" "51889387" "51889387" "subst" "2.84926E-5" "00006" "PKHD1_000013" "g.51889387C>T" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024589C>T" "" "pathogenic" "" "0000087548" "1" "90" "6" "51524750" "51524750" "subst" "1.64397E-5" "00006" "PKHD1_000014" "g.51524750G>A" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659952G>A" "" "pathogenic" "" "0000087549" "1" "90" "6" "51712669" "51712669" "subst" "3.25301E-5" "00006" "PKHD1_000015" "g.51712669G>A" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51847871G>A" "" "pathogenic" "" "0000087550" "1" "10" "6" "51875108" "51875108" "subst" "0" "00006" "PKHD1_000016" "g.51875108T>C" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010310T>C" "" "benign" "" "0000087551" "1" "10" "6" "51799045" "51799045" "subst" "0" "00006" "PKHD1_000017" "g.51799045T>C" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934247T>C" "" "benign" "" "0000087552" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000087553" "1" "70" "6" "51618079" "51618079" "subst" "5.6936E-5" "00006" "PKHD1_000019" "g.51618079A>G" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753281A>G" "" "likely pathogenic" "" "0000087554" "1" "90" "6" "51768399" "51768399" "subst" "0.000451183" "00006" "PKHD1_000020" "g.51768399A>T" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51903601A>T" "" "pathogenic" "" "0000087555" "1" "90" "6" "51524266" "51524266" "subst" "0" "00006" "PKHD1_000021" "g.51524266A>G" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659468A>G" "" "pathogenic" "" "0000087556" "1" "90" "6" "51890388" "51890388" "subst" "0" "00006" "PKHD1_000022" "g.51890388A>C" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025590A>C" "" "pathogenic" "" "0000087557" "1" "90" "6" "51613361" "51613361" "subst" "0" "00006" "PKHD1_000023" "g.51613361G>A" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748563G>A" "" "pathogenic" "" "0000087558" "1" "90" "6" "51889617" "51889617" "subst" "0" "00006" "PKHD1_000024" "g.51889617G>A" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "rs28937907" "0" "" "" "g.52024819G>A" "" "pathogenic" "" "0000087559" "1" "90" "6" "51497416" "51497416" "subst" "0" "00006" "PKHD1_000025" "g.51497416C>T" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51632618C>T" "" "pathogenic" "" "0000087560" "1" "90" "6" "51890861" "51890861" "subst" "2.03772E-5" "00006" "PKHD1_000026" "g.51890861A>C" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52026063A>C" "" "pathogenic" "" "0000087561" "1" "90" "6" "51824681" "51824681" "dup" "0" "00006" "PKHD1_000027" "g.51824681dup" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51959883dup" "" "pathogenic" "" "0000087562" "1" "90" "6" "51921562" "51921565" "del" "0" "00006" "PKHD1_000028" "g.51921562_51921565del" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52056764_52056767del" "" "pathogenic" "" "0000087563" "1" "90" "6" "51524287" "51524287" "del" "1.22479E-5" "00006" "PKHD1_000029" "g.51524287del" "" "{PMID:Ward 2002:11919560}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659489del" "" "pathogenic" "" "0000087564" "11" "90" "6" "51927459" "51927459" "subst" "0" "00006" "PKHD1_000030" "g.51927459C>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "0" "" "Germline" "yes" "" "0" "" "" "g.52062661C>T" "" "pathogenic (recessive)" "" "0000087565" "3" "90" "6" "51524480" "51524480" "subst" "5.29626E-5" "00006" "PKHD1_000034" "g.51524480G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51659682G>A" "" "pathogenic (recessive)" "" "0000087566" "0" "70" "6" "51935804" "51935804" "subst" "1.22159E-5" "00006" "PKHD1_000032" "g.51935804C>T" "" "{PMID:Bergmann 2003:12506140}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.52071006C>T" "" "likely pathogenic (recessive)" "" "0000087567" "3" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0000087568" "1" "90" "6" "51524480" "51524480" "subst" "5.29626E-5" "00006" "PKHD1_000034" "g.51524480G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.51659682G>A" "" "pathogenic (recessive)" "" "0000087569" "0" "90" "6" "51917907" "51917907" "subst" "0" "00006" "PKHD1_000035" "g.51917907C>T" "" "{PMID:Bergmann 2003:12506140}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.52053109C>T" "" "pathogenic (!)" "" "0000087570" "0" "90" "6" "51524421" "51524443" "del" "0" "00006" "PKHD1_000731" "g.51524421_51524443del" "" "{PMID:Bergmann 2003:12506140}" "" "10481_10503delTTCTCTTGGCTGTATTCTACCAT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.51659623_51659645del" "" "pathogenic" "" "0000087571" "1" "90" "6" "51923120" "51923120" "subst" "0" "00006" "PKHD1_000037" "g.51923120C>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.52058322C>T" "" "pathogenic (recessive)" "" "0000087572" "3" "90" "6" "51613095" "51613095" "subst" "0" "00006" "PKHD1_000038" "g.51613095G>A" "" "{PMID:Bergmann 2003:12506140}" "" "0" "" "Germline" "" "" "0" "" "" "g.51748297G>A" "" "pathogenic (recessive)" "" "0000087573" "11" "90" "6" "51612696" "51612696" "subst" "8.13068E-6" "00006" "PKHD1_000039" "g.51612696G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51747898G>A" "" "pathogenic (recessive)" "" "0000087574" "1" "90" "6" "51927453" "51927453" "subst" "2.84599E-5" "00006" "PKHD1_000040" "g.51927453G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.52062655G>A" "" "pathogenic (recessive)" "" "0000087575" "11" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0000087576" "0" "90" "6" "51824681" "51824681" "dup" "0" "00006" "PKHD1_000027" "g.51824681dup" "" "{PMID:Bergmann 2003:12506140}" "" "5895_5896insA (L1966fs)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.51959883dup" "" "pathogenic (recessive)" "" "0000087577" "21" "90" "6" "51611639" "51611639" "subst" "0" "00006" "PKHD1_000043" "g.51611639T>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.51746841T>A" "" "pathogenic (recessive)" "" "0000087578" "3" "90" "6" "51923215" "51923215" "subst" "0" "00006" "PKHD1_000044" "g.51923215A>C" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.52058417A>C" "" "pathogenic (recessive)" "" "0000087579" "3" "70" "6" "51923146" "51923146" "subst" "0" "00006" "PKHD1_000045" "g.51923146C>G" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52058348C>G" "" "pathogenic (recessive)" "" "0000087580" "1" "90" "6" "51927322" "51927329" "del" "0" "00006" "PKHD1_000732" "g.51927322_51927329del" "" "{PMID:Bergmann 2003:12506140}" "" "1106_1113delGACAACCT (G396fsx412)" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.52062524_52062531del" "" "pathogenic (recessive)" "" "0000087581" "3" "90" "6" "51799036" "51799036" "subst" "4.06174E-6" "00006" "PKHD1_000047" "g.51799036A>G" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.51934238A>G" "" "pathogenic (recessive)" "" "0000087582" "1" "90" "6" "51923120" "51923120" "subst" "0" "00006" "PKHD1_000037" "g.51923120C>T" "" "{PMID:Bergmann 2003:12506140}" "" "IVS16+1G>A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.52058322C>T" "" "pathogenic (recessive)" "" "0000087583" "11" "90" "6" "51907665" "51907665" "subst" "0" "00006" "PKHD1_000049" "g.51907665G>T" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "" "" "0" "" "" "g.52042867G>T" "" "pathogenic (recessive)" "" "0000087584" "21" "90" "6" "51524512" "51524512" "subst" "6.9194E-5" "00006" "PKHD1_000050" "g.51524512A>C" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.51659714A>C" "" "pathogenic (recessive)" "" "0000087585" "21" "90" "6" "51918046" "51918046" "subst" "0" "00006" "PKHD1_000051" "g.51918046C>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "0" "" "Germline" "yes" "" "0" "" "" "g.52053248C>A" "" "pathogenic (recessive)" "" "0000087586" "11" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0000087587" "11" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic" "" "0000087588" "3" "90" "6" "51923215" "51923215" "subst" "0" "00006" "PKHD1_000044" "g.51923215A>C" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "" "" "0" "" "" "g.52058417A>C" "" "pathogenic (recessive)" "" "0000087589" "3" "90" "6" "51523952" "51523953" "del" "0" "00006" "PKHD1_000055" "g.51523952_51523953del" "" "{PMID:Bergmann 2003:12506140}" "" "10972_10973delAT (I3658fsx3664)" "" "Germline" "" "" "0" "" "" "g.51659154_51659155del" "" "pathogenic (recessive)" "" "0000087590" "3" "90" "6" "51887601" "51887604" "del" "0" "00006" "PKHD1_000056" "g.51887601_51887604del" "" "{PMID:Bergmann 2003:12506140}" "" "5378_IVS+1delATGG (D1793fsX1802)" "" "Germline" "" "" "0" "" "" "g.52022803_52022806del" "" "pathogenic (recessive)" "" "0000087591" "3" "90" "6" "51890650" "51890651" "del" "0" "00006" "PKHD1_000057" "g.51890650_51890651del" "" "{PMID:Bergmann 2003:12506140}" "" "3958_3939delGG" "" "Germline" "" "" "0" "" "" "g.52025852_52025853del" "" "pathogenic (recessive)" "" "0000087592" "0" "90" "6" "51923223" "51923224" "del" "0" "00006" "PKHD1_000058" "g.51923223_51923224del" "" "{PMID:Bergmann 2003:12506140}" "" "1409_1410delGT (G470fsX480)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.52058425_52058426del" "" "pathogenic (recessive)" "" "0000087593" "21" "90" "6" "51947984" "51947984" "del" "0" "00006" "PKHD1_000059" "g.51947984del" "" "{PMID:Bergmann 2003:12506140}" "" "126delT" "" "Germline" "yes" "" "0" "" "" "g.52083186del" "" "pathogenic (recessive)" "" "0000087594" "21" "90" "6" "51613067" "51613067" "del" "0" "00006" "PKHD1_000060" "g.51613067del" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "0" "" "Germline" "" "" "0" "" "" "g.51748269del" "" "pathogenic (recessive)" "" "0000087595" "1" "90" "6" "51938290" "51938290" "del" "0" "00006" "PKHD1_000061" "g.51938290del" "" "{PMID:Bergmann 2003:12506140}" "" "498delT (T166fsX178)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.52073492del" "" "pathogenic (recessive)" "" "0000087596" "1" "90" "6" "51935814" "51935814" "subst" "0" "00006" "PKHD1_000062" "g.51935814C>T" "" "{PMID:Rossetti 2003:12846734}" "" "0" "Variant 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." "Unknown" "" "" "0" "" "" "g.52071016C>T" "" "pathogenic" "" "0000087597" "1" "90" "6" "51882436" "51882436" "subst" "4.07907E-6" "00006" "PKHD1_000063" "g.51882436A>C" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017638A>C" "" "pathogenic" "" "0000087598" "1" "90" "6" "51897965" "51897965" "subst" "4.07067E-6" "00006" "PKHD1_000064" "g.51897965T>G" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52033167T>G" "" "pathogenic" "" "0000087599" "1" "10" "6" "51914965" "51914965" "subst" "1.21997E-5" "00006" "PKHD1_000066" "g.51914965T>G" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050167T>G" "" "benign" "" "0000087600" "1" "10" "6" "51524522" "51524522" "subst" "7.32625E-5" "00006" "PKHD1_000067" "g.51524522T>C" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659724T>C" "" "benign" "" "0000087601" "1" "90" "6" "51890443" "51890443" "subst" "0" "00006" "PKHD1_000068" "g.51890443G>T" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025645G>T" "" "pathogenic" "" "0000087602" "1" "90" "6" "51609303" "51609303" "subst" "0.000329333" "00006" "PKHD1_000069" "g.51609303A>G" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51744505A>G" "" "pathogenic" "" "0000087603" "1" "10" "6" "51915018" "51915018" "subst" "1.21965E-5" "00006" "PKHD1_000070" "g.51915018G>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050220G>A" "" "benign" "" "0000087604" "1" "10" "6" "51824751" "51824751" "subst" "0" "00006" "PKHD1_000071" "g.51824751T>C" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51959953T>C" "" "benign" "" "0000087605" "1" "10" "6" "51712617" "51712617" "subst" "0" "00006" "PKHD1_000072" "g.51712617C>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51847819C>A" "" "benign" "" "0000087606" "1" "70" "6" "51949682" "51949682" "subst" "0" "00006" "PKHD1_000073" "g.51949682G>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52084884G>A" "" "likely pathogenic" "" "0000087607" "1" "70" "6" "51524059" "51524059" "subst" "0" "00006" "PKHD1_000074" "g.51524059C>T" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659261C>T" "" "likely pathogenic" "" "0000087608" "1" "90" "6" "51882208" "51882208" "subst" "0" "00006" "PKHD1_000075" "g.51882208C>T" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017410C>T" "" "pathogenic" "" "0000087609" "1" "90" "6" "51612884" "51612884" "subst" "5.29299E-5" "00006" "PKHD1_000076" "g.51612884A>G" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748086A>G" "" "pathogenic" "" "0000087610" "1" "90" "6" "51910980" "51910980" "subst" "5.28528E-5" "00006" "PKHD1_000077" "g.51910980G>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52046182G>A" "" "pathogenic" "" "0000087611" "1" "90" "6" "51524419" "51524419" "subst" "0" "00006" "PKHD1_000078" "g.51524419T>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659621T>A" "" "pathogenic" "" "0000087612" "1" "90" "6" "51882295" "51882295" "subst" "1.626E-5" "00006" "PKHD1_000079" "g.51882295T>C" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017497T>C" "" "pathogenic" "" "0000087613" "1" "90" "6" "51882310" "51882310" "subst" "0.000170814" "00006" "PKHD1_000080" "g.51882310G>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017512G>A" "" "pathogenic" "" "0000087614" "1" "90" "6" "51637536" "51637536" "subst" "0.00920578" "00006" "PKHD1_000081" "g.51637536G>T" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "rs142522748" "0" "" "" "g.51772738G>T" "" "pathogenic" "" "0000087615" "1" "90" "6" "51768391" "51768391" "subst" "4.06511E-6" "00006" "PKHD1_000082" "g.51768391T>A" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51903593T>A" "" "pathogenic" "" "0000087616" "1" "90" "6" "51612725" "51612725" "del" "7.31803E-5" "00006" "PKHD1_000083" "g.51612725del" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747927del" "" "pathogenic" "" "0000087617" "1" "90" "6" "51524070" "51524070" "del" "0" "00006" "PKHD1_000084" "g.51524070del" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659272del" "" "pathogenic" "" "0000087618" "1" "90" "6" "51524560" "51524560" "del" "0" "00006" "PKHD1_000085" "g.51524560del" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659762del" "" "pathogenic" "" "0000087619" "1" "90" "6" "51944705" "51944705" "del" "1.21839E-5" "00006" "PKHD1_000086" "g.51944705del" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52079907del" "" "pathogenic" "" "0000087620" "1" "90" "6" "51921762" "51921762" "del" "0" "00006" "PKHD1_000087" "g.51921762del" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52056964del" "" "pathogenic" "" "0000087621" "1" "90" "6" "51776707" "51776707" "del" "0" "00006" "PKHD1_000088" "g.51776707del" "" "{PMID:Rossetti 2003:12846734}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51911909del" "" "pathogenic" "" "0000087622" "1" "70" "6" "51637561" "51637561" "subst" "0.0034217" "00006" "PKHD1_000089" "g.51637561T>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "rs150925674" "0" "" "" "g.51772763T>C" "" "likely pathogenic" "" "0000087623" "1" "70" "6" "51612891" "51612891" "subst" "0" "00006" "PKHD1_000090" "g.51612891T>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748093T>C" "" "likely pathogenic" "" "0000087624" "1" "70" "6" "51612915" "51612915" "subst" "0" "00006" "PKHD1_000091" "g.51612915T>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748117T>A" "" "likely pathogenic (recessive)" "" "0000087625" "1" "70" "6" "51747977" "51747977" "subst" "0.000528344" "00006" "PKHD1_000092" "g.51747977A>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51883179A>C" "" "likely pathogenic" "" "0000087626" "1" "70" "6" "51712759" "51712759" "subst" "0.00205298" "00006" "PKHD1_000093" "g.51712759T>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "rs7766366" "0" "" "" "g.51847961T>C" "" "likely pathogenic (recessive)" "" "0000087627" "1" "70" "6" "51889483" "51889483" "subst" "0.00273055" "00006" "PKHD1_000094" "g.51889483G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "rs45517932" "0" "" "" "g.52024685G>A" "" "likely pathogenic (recessive)" "" "0000087628" "1" "70" "6" "51887614" "51887614" "subst" "0" "00006" "PKHD1_000095" "g.51887614C>G" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52022816C>G" "" "likely pathogenic (recessive)" "" "0000087629" "1" "70" "6" "51909784" "51909784" "subst" "0" "00006" "PKHD1_000096" "g.51909784T>G" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52044986T>G" "" "likely pathogenic (recessive)" "" "0000087630" "1" "70" "6" "51613044" "51613044" "subst" "0" "00006" "PKHD1_000097" "g.51613044G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748246G>A" "" "likely pathogenic" "" "0000087631" "1" "70" "6" "51512880" "51512880" "subst" "0" "00006" "PKHD1_000098" "g.51512880G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51648082G>A" "" "likely pathogenic" "" "0000087632" "1" "70" "6" "51798935" "51798935" "subst" "4.06421E-6" "00006" "PKHD1_000099" "g.51798935C>G" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51934137C>G" "" "likely pathogenic" "" "0000087633" "1" "90" "6" "51944697" "51944697" "subst" "2.03077E-5" "00006" "PKHD1_000100" "g.51944697C>A" "" "{PMID:Furu 2003:12874454}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.52079899C>A" "" "pathogenic" "" "0000087634" "1" "70" "6" "51618079" "51618079" "subst" "5.6936E-5" "00006" "PKHD1_000019" "g.51618079A>G" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000087635" "1" "90" "6" "51524159" "51524159" "subst" "0" "00006" "PKHD1_000102" "g.51524159G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51659361G>A" "" "pathogenic" "" "0000087636" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000087637" "1" "70" "6" "51612890" "51612890" "subst" "0" "00006" "PKHD1_000104" "g.51612890T>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748092T>C" "" "likely pathogenic" "" "0000087638" "1" "70" "6" "51887637" "51887637" "subst" "0" "00006" "PKHD1_000105" "g.51887637G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52022839G>A" "" "likely pathogenic" "" "0000087639" "2" "90" "6" "51890846" "51890847" "delins" "0" "00006" "PKHD1_000224" "g.51890846_51890847delinsC" "" "{PMID:Furu 2003:12874454}" "" "3761_3762delCCinsG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000087640" "1" "70" "6" "51618001" "51618001" "subst" "0" "00006" "PKHD1_000107" "g.51618001G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51753203G>A" "" "likely pathogenic (recessive)" "" "0000087641" "1" "70" "6" "51927458" "51927458" "subst" "4.06564E-6" "00006" "PKHD1_000108" "g.51927458C>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52062660C>A" "" "likely pathogenic" "" "0000087642" "1" "70" "6" "51889857" "51889857" "subst" "4.06177E-6" "00006" "PKHD1_000109" "g.51889857C>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52025059C>A" "" "likely pathogenic (recessive)" "" "0000087643" "1" "70" "6" "51656159" "51656159" "subst" "0" "00006" "PKHD1_000110" "g.51656159A>G" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51791361A>G" "" "likely pathogenic" "" "0000087644" "1" "70" "6" "51799117" "51799117" "subst" "4.47518E-5" "00006" "PKHD1_000111" "g.51799117C>T" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51934319C>T" "" "likely pathogenic (recessive)" "" "0000087645" "1" "70" "6" "51613307" "51613307" "subst" "2.03639E-5" "00006" "PKHD1_000112" "g.51613307A>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748509A>C" "" "likely pathogenic" "" "0000087646" "1" "90" "6" "51776595" "51776595" "subst" "0" "00006" "PKHD1_000113" "g.51776595A>C" "" "{PMID:Furu 2003:12874454}" "" "IVS39+2T>G" "" "Germline" "" "" "0" "" "" "g.51911797A>C" "" "pathogenic" "" "0000087647" "1" "90" "6" "51908434" "51908434" "subst" "0" "00006" "PKHD1_000114" "g.51908434C>T" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52043636C>T" "" "pathogenic" "" "0000087648" "1" "90" "6" "51524196" "51524196" "subst" "0" "00006" "PKHD1_000115" "g.51524196C>T" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51659398C>T" "" "pathogenic (recessive)" "" "0000087649" "1" "90" "6" "51524286" "51524286" "dup" "0" "00006" "PKHD1_000116" "g.51524286dup" "" "{PMID:Furu 2003:12874454}" "" "10637_10638insC" "" "Germline" "" "" "0" "" "" "g.51659488dup" "" "pathogenic (recessive)" "" "0000087650" "1" "90" "6" "51890845" "51890846" "ins" "0" "00006" "PKHD1_000117" "g.51890845_51890846insC" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52026047_52026048insC" "" "pathogenic" "" "0000087651" "1" "70" "6" "51924801" "51924803" "del" "0" "00006" "PKHD1_000118" "g.51924801_51924803del" "" "{PMID:Furu 2003:12874454}" "" "1159_1161delAAT" "" "Germline" "" "" "0" "" "" "g.52060003_52060005del" "" "likely pathogenic (recessive)" "" "0000087652" "1" "90" "6" "51712612" "51712612" "subst" "1.62643E-5" "00006" "PKHD1_000119" "g.51712612A>G" "" "{PMID:Sgro 2004:14971004}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51847814A>G" "" "pathogenic" "" "0000087653" "1" "90" "6" "51637499" "51637499" "subst" "8.22409E-6" "00006" "PKHD1_000120" "g.51637499C>T" "" "{PMID:Sgro 2004:14971004}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51772701C>T" "" "pathogenic" "" "0000087654" "1" "90" "6" "51484077" "51484077" "subst" "0.000350231" "00006" "PKHD1_000121" "g.51484077G>C" "" "{PMID:Bergmann 2004:15108277}" "" "0" "" "Unknown" "" "rs143616240" "0" "" "" "g.51619279G>C" "" "pathogenic" "" "0000087655" "1" "30" "6" "51923177" "51923177" "subst" "0" "00006" "PKHD1_000122" "g.51923177A>G" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058379A>G" "" "likely benign" "" "0000087656" "1" "90" "6" "51768484" "51768484" "subst" "0.000170671" "00006" "PKHD1_000123" "g.51768484T>A" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51903686T>A" "" "pathogenic" "" "0000087657" "1" "90" "6" "51503646" "51503646" "subst" "0" "00006" "PKHD1_000124" "g.51503646C>T" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51638848C>T" "" "pathogenic" "" "0000087658" "1" "90" "6" "51524705" "51524705" "subst" "8.161E-6" "00006" "PKHD1_000125" "g.51524705G>A" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659907G>A" "" "pathogenic" "" "0000087659" "1" "90" "6" "51512913" "51512913" "subst" "4.07276E-6" "00006" "PKHD1_000126" "g.51512913G>A" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51648115G>A" "" "pathogenic" "" "0000087660" "1" "90" "6" "51923153" "51923153" "subst" "0" "00006" "PKHD1_000127" "g.51923153G>A" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058355G>A" "" "pathogenic" "" "0000087661" "1" "70" "6" "51929809" "51929809" "subst" "4.07213E-6" "00006" "PKHD1_000128" "g.51929809A>G" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52065011A>G" "" "likely pathogenic" "" "0000087662" "1" "70" "6" "51618064" "51618064" "subst" "0" "00006" "PKHD1_000129" "g.51618064T>C" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753266T>C" "" "likely pathogenic" "" "0000087663" "1" "90" "6" "51890193" "51890193" "subst" "0" "00006" "PKHD1_000130" "g.51890193C>T" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025395C>T" "" "pathogenic" "" "0000087664" "1" "90" "6" "51777287" "51777287" "subst" "0" "00006" "PKHD1_000131" "g.51777287C>T" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51912489C>T" "" "pathogenic" "" "0000087665" "1" "90" "6" "51918863" "51918863" "subst" "0" "00006" "PKHD1_000132" "g.51918863C>T" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52054065C>T" "" "pathogenic" "" "0000087666" "1" "90" "6" "51938314" "51938314" "subst" "0" "00006" "PKHD1_000133" "g.51938314C>T" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52073516C>T" "" "pathogenic" "" "0000087667" "1" "90" "6" "51613228" "51613230" "delins" "0" "00006" "PKHD1_000134" "g.51613228_51613230delinsCTGATGTCATTAA" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748430_51748432delinsCTGATGTCATTAA" "" "pathogenic" "" "0000087668" "1" "90" "6" "51735435" "51735435" "dup" "0" "00006" "PKHD1_000135" "g.51735435dup" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51870637dup" "" "pathogenic" "" "0000087669" "1" "90" "6" "51824680" "51824680" "dup" "0" "00006" "PKHD1_000136" "g.51824680dup" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51959882dup" "" "pathogenic" "" "0000087670" "1" "90" "6" "51890021" "51890021" "dup" "0" "00006" "PKHD1_000137" "g.51890021dup" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025223dup" "" "pathogenic" "" "0000087671" "1" "90" "6" "51524477" "51524477" "dup" "0" "00006" "PKHD1_000138" "g.51524477dup" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659679dup" "" "pathogenic" "" "0000087672" "1" "90" "6" "51944735" "51944735" "del" "5.28022E-5" "00006" "PKHD1_000139" "g.51944735del" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52079937del" "" "pathogenic" "" "0000087673" "1" "90" "6" "51890351" "51890352" "del" "0" "00006" "PKHD1_000140" "g.51890351_51890352del" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025553_52025554del" "" "pathogenic" "" "0000087674" "1" "90" "6" "51777180" "51777196" "del" "0" "00006" "PKHD1_000141" "g.51777180_51777196del" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51912382_51912398del" "" "pathogenic" "" "0000087675" "1" "90" "6" "51875110" "51875111" "del" "0" "00006" "PKHD1_000142" "g.51875110_51875111del" "" "{PMID:Bergmann 2004:15108281}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010312_52010313del" "" "pathogenic" "" "0000087676" "1" "90" "6" "51776756" "51776756" "subst" "0" "00006" "PKHD1_000143" "g.51776756T>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51911958T>C" "" "pathogenic" "" "0000087677" "1" "10" "6" "51798983" "51798983" "subst" "8.12532E-6" "00006" "PKHD1_000144" "g.51798983T>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934185T>A" "" "benign" "" "0000087678" "1" "10" "6" "51893144" "51893144" "subst" "0" "00006" "PKHD1_000145" "g.51893144C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52028346C>T" "" "benign" "" "0000087679" "1" "10" "6" "51656163" "51656163" "subst" "0" "00006" "PKHD1_000146" "g.51656163C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791365C>T" "" "benign" "" "0000087680" "1" "10" "6" "51887626" "51887626" "subst" "2.03204E-5" "00006" "PKHD1_000147" "g.51887626A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52022828A>G" "" "benign" "" "0000087681" "1" "30" "6" "51947197" "51947197" "subst" "0" "00006" "PKHD1_000148" "g.51947197G>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52082399G>C" "" "likely benign" "" "0000087682" "1" "30" "6" "51944754" "51944754" "subst" "0.000349352" "00006" "PKHD1_000149" "g.51944754C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52079956C>T" "" "likely benign" "" "0000087683" "1" "70" "6" "51618050" "51618050" "subst" "0" "00006" "PKHD1_000150" "g.51618050C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753252C>A" "" "likely pathogenic" "" "0000087684" "1" "90" "6" "51889378" "51889378" "subst" "0" "00006" "PKHD1_000151" "g.51889378T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024580T>G" "" "pathogenic" "" "0000087685" "1" "90" "6" "51824698" "51824698" "subst" "0" "00006" "PKHD1_000152" "g.51824698T>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51959900T>C" "" "pathogenic" "" "0000087686" "1" "90" "6" "51776669" "51776669" "subst" "0" "00006" "PKHD1_000153" "g.51776669T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51911871T>G" "" "pathogenic" "" "0000087687" "1" "90" "6" "51612789" "51612789" "subst" "0" "00006" "PKHD1_000154" "g.51612789T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747991T>G" "" "pathogenic" "" "0000087688" "1" "90" "6" "51513975" "51513975" "subst" "0" "00006" "PKHD1_000155" "g.51513975G>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51649177G>A" "" "pathogenic" "" "0000087689" "1" "90" "6" "51613125" "51613125" "subst" "0" "00006" "PKHD1_000156" "g.51613125C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748327C>T" "" "pathogenic" "" "0000087690" "1" "90" "6" "51889372" "51889372" "subst" "0" "00006" "PKHD1_000157" "g.51889372C>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024574C>G" "" "pathogenic" "" "0000087691" "1" "90" "6" "51612882" "51612882" "subst" "0" "00006" "PKHD1_000158" "g.51612882C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748084C>A" "" "pathogenic" "" "0000087692" "1" "90" "6" "51909886" "51909886" "subst" "0" "00006" "PKHD1_000159" "g.51909886C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52045088C>A" "" "pathogenic" "" "0000087693" "1" "90" "6" "51890317" "51890317" "subst" "0" "00006" "PKHD1_000160" "g.51890317A>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025519A>T" "" "pathogenic" "" "0000087694" "1" "90" "6" "51900388" "51900388" "subst" "4.06339E-6" "00006" "PKHD1_000161" "g.51900388C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52035590C>A" "" "pathogenic" "" "0000087695" "1" "90" "6" "51887656" "51887656" "subst" "0" "00006" "PKHD1_000162" "g.51887656G>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52022858G>A" "" "pathogenic" "" "0000087696" "1" "10" "6" "51824808" "51824808" "subst" "0.000729421" "00006" "PKHD1_000164" "g.51824808T>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "rs150838488" "0" "" "" "g.51960010T>A" "" "benign" "" "0000087697" "1" "10" "6" "51640668" "51640668" "subst" "8.17033E-6" "00006" "PKHD1_000165" "g.51640668C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51775870C>T" "" "benign" "" "0000087698" "1" "10" "6" "51777257" "51777257" "subst" "0" "00006" "PKHD1_000166" "g.51777257C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51912459C>T" "" "benign" "" "0000087699" "1" "10" "6" "51523999" "51523999" "subst" "0" "00006" "PKHD1_000167" "g.51523999A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659201A>G" "" "benign" "" "0000087700" "1" "10" "6" "51613328" "51613328" "subst" "0" "00006" "PKHD1_000168" "g.51613328T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748530T>G" "" "benign" "" "0000087701" "1" "10" "6" "51908497" "51908497" "subst" "0" "00006" "PKHD1_000169" "g.51908497T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52043699T>G" "" "benign" "" "0000087702" "1" "10" "6" "51612695" "51612695" "subst" "8.13041E-6" "00006" "PKHD1_000170" "g.51612695C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747897C>T" "" "benign" "" "0000087703" "1" "10" "6" "51908467" "51908467" "subst" "0" "00006" "PKHD1_000171" "g.51908467A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52043669A>G" "" "benign" "" "0000087704" "1" "10" "6" "51882223" "51882223" "subst" "0.000268238" "00006" "PKHD1_000172" "g.51882223G>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017425G>A" "" "benign" "" "0000087705" "1" "10" "6" "51887619" "51887619" "subst" "1.62628E-5" "00006" "PKHD1_000173" "g.51887619C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52022821C>A" "" "benign" "" "0000087706" "1" "30" "6" "51923236" "51923236" "subst" "8.12982E-6" "00006" "PKHD1_000174" "g.51923236C>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058438C>G" "" "likely benign" "" "0000087707" "1" "70" "6" "51890403" "51890403" "subst" "0" "00006" "PKHD1_000175" "g.51890403C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025605C>A" "" "likely pathogenic" "" "0000087708" "1" "70" "6" "51944702" "51944702" "subst" "0" "00006" "PKHD1_000176" "g.51944702A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52079904A>G" "" "likely pathogenic" "" "0000087709" "1" "90" "6" "51889548" "51889548" "subst" "1.21879E-5" "00006" "PKHD1_000177" "g.51889548A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024750A>G" "" "pathogenic" "" "0000087710" "1" "90" "6" "51613262" "51613262" "subst" "4.06795E-6" "00006" "PKHD1_000178" "g.51613262A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748464A>G" "" "pathogenic" "" "0000087711" "1" "90" "6" "51747961" "51747961" "subst" "1.62554E-5" "00006" "PKHD1_000179" "g.51747961A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51883163A>G" "" "pathogenic" "" "0000087712" "1" "90" "6" "51640608" "51640608" "subst" "0" "00006" "PKHD1_000180" "g.51640608A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51775810A>G" "" "pathogenic" "" "0000087713" "1" "90" "6" "51907911" "51907911" "subst" "0" "00006" "PKHD1_000181" "g.51907911A>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52043113A>C" "" "pathogenic" "" "0000087714" "1" "90" "6" "51613043" "51613043" "subst" "0" "00006" "PKHD1_000182" "g.51613043T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748245T>G" "" "pathogenic" "" "0000087715" "1" "90" "6" "51914970" "51914970" "subst" "0" "00006" "PKHD1_000183" "g.51914970G>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050172G>A" "" "pathogenic" "" "0000087716" "21" "90" "6" "51907665" "51907665" "subst" "4.48098E-5" "00006" "PKHD1_000184" "g.51907665G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.52042867G>A" "" "pathogenic (recessive)" "" "0000087717" "1" "90" "6" "51612950" "51612950" "subst" "1.22166E-5" "00006" "PKHD1_000185" "g.51612950T>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748152T>C" "" "pathogenic" "" "0000087718" "11" "90" "6" "51893047" "51893047" "subst" "2.84289E-5" "00006" "PKHD1_000186" "g.51893047G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.52028249G>A" "" "pathogenic (recessive)" "" "0000087719" "1" "90" "6" "51890898" "51890898" "subst" "0" "00006" "PKHD1_000187" "g.51890898C>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52026100C>T" "" "pathogenic" "" "0000087720" "1" "90" "6" "51921564" "51921564" "subst" "0" "00006" "PKHD1_000188" "g.51921564A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52056766A>G" "" "pathogenic" "" "0000087721" "1" "90" "6" "51524296" "51524296" "subst" "0" "00006" "PKHD1_000189" "g.51524296A>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659498A>G" "" "pathogenic" "" "0000087722" "1" "90" "6" "51524215" "51524215" "subst" "4.07531E-6" "00006" "PKHD1_000190" "g.51524215G>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659417G>C" "" "pathogenic" "" "0000087723" "1" "10" "6" "51882306" "51882306" "subst" "0" "00006" "PKHD1_000191" "g.51882306C>A" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017508C>A" "" "benign" "" "0000087724" "1" "30" "6" "51927319" "51927319" "subst" "0" "00006" "PKHD1_000192" "g.51927319G>C" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52062521G>C" "" "likely benign" "" "0000087725" "1" "70" "6" "51923121" "51923121" "subst" "0" "00006" "PKHD1_000193" "g.51923121C>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058323C>G" "" "likely pathogenic" "" "0000087726" "1" "90" "6" "51656089" "51656089" "subst" "0" "00006" "PKHD1_000194" "g.51656089T>G" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791291T>G" "" "pathogenic" "" "0000087727" "1" "90" "6" "51611656" "51611656" "subst" "0" "00006" "PKHD1_000195" "g.51611656G>T" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51746858G>T" "" "pathogenic" "" "0000087728" "1" "90" "6" "51768400" "51768400" "dup" "0" "00006" "PKHD1_000196" "g.51768400dup" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51903602dup" "" "pathogenic" "" "0000087729" "1" "90" "6" "51799000" "51799000" "del" "0" "00006" "PKHD1_000197" "g.51799000del" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934202del" "" "pathogenic" "" "0000087730" "1" "90" "6" "51619729" "51619731" "del" "0" "00006" "PKHD1_000198" "g.51619729_51619731del" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51754931_51754933del" "" "pathogenic" "" "0000087731" "1" "90" "6" "51824815" "51824819" "del" "0" "00006" "PKHD1_000199" "g.51824815_51824819del" "" "{PMID:Bergmann 2005:15698423}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51960017_51960021del" "" "pathogenic" "" "0000087732" "1" "90" "6" "51941136" "51941136" "subst" "0" "00006" "PKHD1_000200" "g.51941136T>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52076338T>C" "" "pathogenic" "" "0000087733" "1" "90" "6" "51882429" "51882429" "subst" "0" "00006" "PKHD1_000201" "g.51882429T>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017631T>G" "" "pathogenic" "" "0000087734" "1" "90" "6" "51929849" "51929849" "subst" "0" "00006" "PKHD1_000202" "g.51929849C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52065051C>T" "" "pathogenic" "" "0000087735" "1" "90" "6" "51887743" "51887743" "subst" "0" "00006" "PKHD1_000203" "g.51887743C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52022945C>T" "" "pathogenic" "" "0000087736" "1" "90" "6" "51712769" "51712769" "subst" "4.06812E-6" "00006" "PKHD1_000204" "g.51712769C>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51847971C>G" "" "pathogenic" "" "0000087737" "1" "10" "6" "51640642" "51640642" "subst" "2.45288E-5" "00006" "PKHD1_000205" "g.51640642G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51775844G>A" "" "benign" "" "0000087738" "1" "10" "6" "51640639" "51640639" "subst" "0.00278827" "00006" "PKHD1_000206" "g.51640639T>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs113562492" "0" "" "" "g.51775841T>C" "" "benign" "" "0000087739" "1" "10" "6" "51619642" "51619642" "subst" "4.07E-6" "00006" "PKHD1_000207" "g.51619642C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51754844C>T" "" "benign" "" "0000087740" "1" "30" "6" "51924779" "51924779" "subst" "0" "00006" "PKHD1_000208" "g.51924779C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52059981C>T" "" "likely benign" "" "0000087741" "1" "30" "6" "51882398" "51882398" "subst" "0.000232138" "00006" "PKHD1_000209" "g.51882398G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017600G>A" "" "likely benign" "" "0000087742" "1" "30" "6" "51890569" "51890569" "subst" "0.000109817" "00006" "PKHD1_000210" "g.51890569C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025771C>T" "" "likely benign" "" "0000087743" "1" "70" "6" "51497417" "51497417" "subst" "8.13895E-6" "00006" "PKHD1_000212" "g.51497417A>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51632619A>G" "" "likely pathogenic" "" "0000087744" "1" "70" "6" "51491843" "51491843" "subst" "0.000113803" "00006" "PKHD1_000213" "g.51491843G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51627045G>A" "" "likely pathogenic" "" "0000087745" "1" "70" "6" "51619591" "51619591" "subst" "2.44143E-5" "00006" "PKHD1_000214" "g.51619591G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51754793G>A" "" "likely pathogenic" "" "0000087746" "1" "90" "6" "51889372" "51889372" "subst" "2.04067E-5" "00006" "PKHD1_000215" "g.51889372C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024574C>T" "" "pathogenic" "" "0000087747" "1" "90" "6" "51656049" "51656049" "subst" "1.21951E-5" "00006" "PKHD1_000216" "g.51656049C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791251C>T" "" "pathogenic" "" "0000087748" "1" "90" "6" "51524258" "51524258" "subst" "4.89544E-5" "00006" "PKHD1_000217" "g.51524258G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659460G>A" "" "pathogenic" "" "0000087749" "1" "90" "6" "51944718" "51944718" "subst" "8.12348E-6" "00006" "PKHD1_000218" "g.51944718G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52079920G>A" "" "pathogenic" "" "0000087750" "1" "90" "6" "51497504" "51497504" "subst" "1.62853E-5" "00006" "PKHD1_000219" "g.51497504G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51632706G>A" "" "pathogenic" "" "0000087751" "1" "90" "6" "51920447" "51920447" "subst" "8.16193E-6" "00006" "PKHD1_000220" "g.51920447G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52055649G>A" "" "pathogenic" "" "0000087752" "1" "90" "6" "51913356" "51913356" "subst" "4.062E-5" "00006" "PKHD1_000221" "g.51913356G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52048558G>A" "" "pathogenic" "" "0000087753" "1" "10" "6" "51612695" "51612695" "subst" "4.06521E-6" "00006" "PKHD1_000223" "g.51612695C>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747897C>A" "" "benign" "" "0000087754" "1" "10" "6" "51890469" "51890469" "subst" "8.12532E-6" "00006" "PKHD1_000226" "g.51890469A>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025671A>G" "" "benign" "" "0000087755" "1" "30" "6" "51611519" "51611519" "subst" "4.07601E-6" "00006" "PKHD1_000227" "g.51611519C>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51746721C>G" "" "likely benign" "" "0000087756" "1" "30" "6" "51524119" "51524119" "subst" "0" "00006" "PKHD1_000228" "g.51524119G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659321G>A" "" "likely benign" "" "0000087757" "1" "30" "6" "51613199" "51613199" "subst" "0.00213194" "00006" "PKHD1_000230" "g.51613199G>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748401G>A" "" "likely benign" "" "0000087758" "1" "70" "6" "51941112" "51941112" "subst" "0" "00006" "PKHD1_000231" "g.51941112G>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52076314G>C" "" "likely pathogenic" "" "0000087759" "1" "70" "6" "51930848" "51930848" "subst" "0" "00006" "PKHD1_000232" "g.51930848C>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52066050C>A" "" "likely pathogenic" "" "0000087760" "1" "70" "6" "51923224" "51923224" "subst" "0" "00006" "PKHD1_000233" "g.51923224C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058426C>T" "" "likely pathogenic" "" "0000087761" "1" "70" "6" "51882421" "51882421" "subst" "0" "00006" "PKHD1_000234" "g.51882421A>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017623A>G" "" "likely pathogenic" "" "0000087762" "1" "90" "6" "51918920" "51918920" "subst" "0" "00006" "PKHD1_000235" "g.51918920A>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52054122A>T" "" "pathogenic" "" "0000087763" "1" "90" "6" "51612689" "51612689" "subst" "0" "00006" "PKHD1_000236" "g.51612689C>A" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747891C>A" "" "pathogenic" "" "0000087764" "1" "90" "6" "51613103" "51613103" "subst" "0" "00006" "PKHD1_000237" "g.51613103A>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748305A>C" "" "pathogenic" "" "0000087765" "1" "90" "6" "51524605" "51524605" "subst" "4.06984E-6" "00006" "PKHD1_000238" "g.51524605A>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659807A>T" "" "pathogenic" "" "0000087766" "1" "90" "6" "51929751" "51929751" "subst" "0" "00006" "PKHD1_000239" "g.51929751A>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52064953A>T" "" "pathogenic" "" "0000087767" "1" "90" "6" "51776595" "51776595" "subst" "4.07461E-6" "00006" "PKHD1_000240" "g.51776595A>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51911797A>G" "" "pathogenic" "" "0000087768" "1" "90" "6" "51890760" "51890760" "subst" "0" "00006" "PKHD1_000241" "g.51890760G>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025962G>T" "" "pathogenic" "" "0000087769" "1" "10" "6" "51523998" "51523998" "subst" "0.000667519" "00006" "PKHD1_000242" "g.51523998C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "rs78518523" "0" "" "" "g.51659200C>T" "" "benign" "" "0000087770" "1" "70" "6" "51930871" "51930871" "subst" "2.07515E-5" "00006" "PKHD1_000243" "g.51930871T>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52066073T>C" "" "likely pathogenic" "" "0000087771" "1" "90" "6" "51875104" "51875104" "subst" "0" "00006" "PKHD1_000244" "g.51875104T>C" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010306T>C" "" "pathogenic" "" "0000087772" "1" "90" "6" "51695656" "51695656" "subst" "0" "00006" "PKHD1_000245" "g.51695656C>G" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51830858C>G" "" "pathogenic" "" "0000087773" "1" "90" "6" "51924747" "51924747" "subst" "0" "00006" "PKHD1_000246" "g.51924747C>T" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52059949C>T" "" "pathogenic" "" "0000087774" "1" "90" "6" "51890190" "51890193" "delins" "0" "00006" "PKHD1_000247" "g.51890190_51890193delinsAGAGGGGAATA" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025392_52025395delinsAGAGGGGAATA" "" "pathogenic" "" "0000087775" "1" "90" "6" "51915055" "51915055" "dup" "0" "00006" "PKHD1_000248" "g.51915055dup" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050257dup" "" "pathogenic" "" "0000087776" "1" "90" "6" "51892986" "51892986" "dup" "0" "00006" "PKHD1_000249" "g.51892986dup" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52028188dup" "" "pathogenic" "" "0000087777" "1" "90" "6" "51774103" "51774110" "dup" "0" "00006" "PKHD1_000250" "g.51774103_51774110dup" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51909305_51909312dup" "" "pathogenic" "" "0000087778" "1" "90" "6" "51798904" "51798905" "ins" "0" "00006" "PKHD1_000251" "g.51798904_51798905insA" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934106_51934107insA" "" "pathogenic" "" "0000087779" "1" "90" "6" "51918948" "51918948" "del" "0" "00006" "PKHD1_000252" "g.51918948del" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52054150del" "" "pathogenic" "" "0000087780" "1" "90" "6" "51910870" "51910876" "del" "0" "00006" "PKHD1_000253" "g.51910870_51910876del" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52046072_52046078del" "" "pathogenic" "" "0000087781" "1" "90" "6" "51701262" "51701262" "del" "0" "00006" "PKHD1_000254" "g.51701262del" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51836464del" "" "pathogenic" "" "0000087782" "1" "90" "6" "51882227" "51882227" "del" "0" "00006" "PKHD1_000255" "g.51882227del" "" "{PMID:Sharp 2005:15805161}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017429del" "" "pathogenic" "" "0000087783" "1" "90" "6" "51735439" "51735439" "subst" "0" "00006" "PKHD1_000256" "g.51735439T>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51870641T>A" "" "pathogenic" "" "0000087784" "1" "90" "6" "51936989" "51936989" "subst" "0" "00006" "PKHD1_000257" "g.51936989T>C" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52072191T>C" "" "pathogenic" "" "0000087785" "1" "10" "6" "51656157" "51656157" "subst" "1.2199E-5" "00006" "PKHD1_000258" "g.51656157C>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791359C>A" "" "benign" "" "0000087786" "1" "30" "6" "51934279" "51934279" "subst" "0" "00006" "PKHD1_000259" "g.51934279G>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52069481G>A" "" "likely benign" "" "0000087787" "1" "30" "6" "51618056" "51618056" "subst" "0" "00006" "PKHD1_000260" "g.51618056A>G" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753258A>G" "" "likely benign" "" "0000087788" "1" "70" "6" "51935819" "51935819" "subst" "0.000687892" "00006" "PKHD1_000261" "g.51935819C>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "rs149522482" "0" "" "" "g.52071021C>T" "" "likely pathogenic" "" "0000087789" "1" "70" "6" "51924836" "51924836" "subst" "2.03353E-5" "00006" "PKHD1_000262" "g.51924836G>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52060038G>A" "" "likely pathogenic" "" "0000087790" "1" "90" "6" "51513909" "51513909" "subst" "0" "00006" "PKHD1_000263" "g.51513909G>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51649111G>T" "" "pathogenic" "" "0000087791" "1" "90" "6" "51907900" "51907900" "subst" "2.03749E-5" "00006" "PKHD1_000264" "g.51907900C>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52043102C>T" "" "pathogenic" "" "0000087792" "1" "90" "6" "51924725" "51924725" "subst" "0" "00006" "PKHD1_000265" "g.51924725C>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52059927C>T" "" "pathogenic" "" "0000087793" "1" "90" "6" "51890278" "51890278" "subst" "0" "00006" "PKHD1_000266" "g.51890278G>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025480G>A" "" "pathogenic" "" "0000087794" "1" "10" "6" "51875135" "51875135" "subst" "0" "00006" "PKHD1_000267" "g.51875135A>G" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010337A>G" "" "benign" "" "0000087795" "1" "10" "6" "51875108" "51875108" "subst" "0" "00006" "PKHD1_000268" "g.51875108T>G" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010310T>G" "" "benign" "" "0000087796" "1" "10" "6" "51915054" "51915054" "subst" "0" "00006" "PKHD1_000269" "g.51915054T>C" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050256T>C" "" "benign" "" "0000087797" "1" "90" "6" "51907818" "51907818" "subst" "1.62694E-5" "00006" "PKHD1_000270" "g.51907818G>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52043020G>A" "" "pathogenic" "" "0000087798" "1" "90" "6" "51524260" "51524260" "subst" "0" "00006" "PKHD1_000271" "g.51524260A>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659462A>T" "" "pathogenic" "" "0000087799" "1" "90" "6" "51524698" "51524698" "subst" "0" "00006" "PKHD1_000272" "g.51524698T>A" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659900T>A" "" "pathogenic" "" "0000087800" "1" "90" "6" "51889653" "51889653" "subst" "0" "00006" "PKHD1_000273" "g.51889653T>C" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024855T>C" "" "pathogenic" "" "0000087801" "1" "90" "6" "51889770" "51889770" "subst" "1.2186E-5" "00006" "PKHD1_000274" "g.51889770C>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024972C>T" "" "pathogenic" "" "0000087802" "1" "90" "6" "51656162" "51656162" "subst" "0" "00006" "PKHD1_000275" "g.51656162A>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791364A>T" "" "pathogenic" "" "0000087803" "1" "90" "6" "51695657" "51695657" "subst" "0" "00006" "PKHD1_000276" "g.51695657A>G" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51830859A>G" "" "pathogenic" "" "0000087804" "1" "90" "6" "51612731" "51612731" "subst" "0" "00006" "PKHD1_000277" "g.51612731G>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747933G>T" "" "pathogenic" "" "0000087805" "1" "90" "6" "51609308" "51609308" "subst" "0" "00006" "PKHD1_000278" "g.51609308A>C" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51744510A>C" "" "pathogenic" "" "0000087806" "1" "90" "6" "51612649" "51612649" "subst" "0" "00006" "PKHD1_000279" "g.51612649C>T" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747851C>T" "" "pathogenic" "" "0000087807" "1" "90" "6" "51503745" "51503745" "dup" "0" "00006" "PKHD1_000280" "g.51503745dup" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51638947dup" "" "pathogenic" "" "0000087808" "1" "90" "6" "51497492" "51497492" "dup" "0" "00006" "PKHD1_000281" "g.51497492dup" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51632694dup" "" "pathogenic" "" "0000087809" "1" "90" "6" "51637560" "51637564" "del" "0" "00006" "PKHD1_000282" "g.51637560_51637564del" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51772762_51772766del" "" "pathogenic" "" "0000087810" "1" "90" "6" "51949723" "51949730" "del" "0" "00006" "PKHD1_000283" "g.51949723_51949730del" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52084925_52084932del" "" "pathogenic" "" "0000087811" "1" "90" "6" "51613066" "51613066" "del" "0" "00006" "PKHD1_000284" "g.51613066del" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748268del" "" "pathogenic" "" "0000087812" "1" "90" "6" "51890055" "51890072" "del" "0" "00006" "PKHD1_000285" "g.51890055_51890072del" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025257_52025274del" "" "pathogenic" "" "0000087813" "1" "90" "6" "51908431" "51908432" "del" "0" "00006" "PKHD1_000286" "g.51908431_51908432del" "" "{PMID:Losekoot 2005:16133180}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52043633_52043634del" "" "pathogenic" "" "0000087814" "1" "10" "6" "51774111" "51774111" "subst" "0" "00006" "PKHD1_000287" "g.51774111T>A" "" "{PMID:Adeva 2006:16523049}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51909313T>A" "" "benign" "" "0000087815" "1" "10" "6" "51524015" "51524015" "subst" "0.000207614" "00006" "PKHD1_000288" "g.51524015G>A" "" "{PMID:Adeva 2006:16523049}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659217G>A" "" "benign" "" "0000087816" "1" "90" "6" "51798932" "51798932" "subst" "1.6257E-5" "00006" "PKHD1_000289" "g.51798932T>C" "" "{PMID:Adeva 2006:16523049}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934134T>C" "" "pathogenic" "" "0000087817" "1" "30" "6" "51941094" "51941094" "subst" "1.2193E-5" "00006" "PKHD1_000290" "g.51941094T>C" "" "{PMID:Adeva 2006:16523049}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52076296T>C" "" "likely benign" "" "0000087818" "1" "70" "6" "51483904" "51483904" "subst" "2.84652E-5" "00006" "PKHD1_000291" "g.51483904G>A" "" "{PMID:Adeva 2006:16523049}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51619106G>A" "" "likely pathogenic" "" "0000087819" "1" "90" "6" "51799066" "51799066" "subst" "4.46838E-5" "00006" "PKHD1_000292" "g.51799066A>G" "" "{PMID:Adeva 2006:16523049}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934268A>G" "" "pathogenic" "" "0000087820" "1" "90" "6" "51948056" "51948056" "subst" "4.06421E-6" "00006" "PKHD1_000293" "g.51948056G>T" "" "{PMID:Bergmann 2006:16897190}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52083258G>T" "" "pathogenic" "" "0000087821" "1" "70" "6" "51924760" "51924760" "subst" "0" "00006" "PKHD1_000294" "g.51924760A>G" "" "{PMID:Harris 2008:18769842}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52059962A>G" "" "likely pathogenic" "" "0000087822" "1" "90" "6" "51747238" "51747238" "subst" "0" "00006" "PKHD1_000295" "g.51747238T>C" "" "{PMID:Michel-Calemard 2009:19021639}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51882440T>C" "" "pathogenic" "" "0000087823" "1" "90" "6" "51889726" "51889726" "subst" "4.06204E-6" "00006" "PKHD1_000296" "g.51889726G>C" "" "{PMID:Michel-Calemard 2009:19021639}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024928G>C" "" "pathogenic" "" "0000087824" "1" "90" "6" "51889533" "51889533" "subst" "0" "00006" "PKHD1_000297" "g.51889533C>T" "" "{PMID:Michel-Calemard 2009:19021639}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52024735C>T" "" "pathogenic" "" "0000087825" "1" "10" "6" "51917957" "51917957" "subst" "0" "00006" "PKHD1_000298" "g.51917957T>G" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52053159T>G" "" "benign" "" "0000087826" "1" "10" "6" "51747949" "51747949" "subst" "4.06478E-6" "00006" "PKHD1_000299" "g.51747949T>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51883151T>A" "" "benign" "" "0000087827" "1" "10" "6" "51656067" "51656067" "subst" "2.03226E-5" "00006" "PKHD1_000300" "g.51656067A>G" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791269A>G" "" "benign" "" "0000087828" "1" "10" "6" "51747977" "51747977" "subst" "2.43851E-5" "00006" "PKHD1_000301" "g.51747977A>G" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51883179A>G" "" "benign" "" "0000087829" "1" "10" "6" "51613268" "51613268" "subst" "1.62743E-5" "00006" "PKHD1_000302" "g.51613268T>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748470T>C" "" "benign" "" "0000087830" "1" "10" "6" "51915063" "51915063" "subst" "0" "00006" "PKHD1_000303" "g.51915063G>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050265G>C" "" "benign" "" "0000087831" "1" "30" "6" "51930776" "51930776" "subst" "4.06494E-6" "00006" "PKHD1_000304" "g.51930776G>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52065978G>A" "" "likely benign" "" "0000087832" "1" "30" "6" "51923236" "51923236" "subst" "8.12982E-6" "00006" "PKHD1_000305" "g.51923236C>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058438C>T" "" "likely benign" "" "0000087833" "1" "30" "6" "51934296" "51934296" "subst" "0" "00006" "PKHD1_000306" "g.51934296A>G" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52069498A>G" "" "likely benign" "" "0000087834" "1" "70" "6" "51484235" "51484235" "subst" "6.53077E-5" "00006" "PKHD1_000307" "g.51484235G>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "rs146680689" "0" "" "" "g.51619437G>A" "" "likely pathogenic" "" "0000087835" "1" "70" "6" "51923224" "51923224" "subst" "8.12955E-6" "00006" "PKHD1_000308" "g.51923224C>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058426C>A" "" "likely pathogenic" "" "0000087836" "1" "70" "6" "51882358" "51882358" "subst" "0" "00006" "PKHD1_000309" "g.51882358A>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017560A>C" "" "likely pathogenic" "" "0000087837" "1" "70" "6" "51934269" "51934269" "subst" "0" "00006" "PKHD1_000310" "g.51934269T>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52069471T>C" "" "likely pathogenic" "" "0000087838" "1" "70" "6" "51947197" "51947197" "subst" "1.21959E-5" "00006" "PKHD1_000311" "g.51947197G>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52082399G>A" "" "likely pathogenic" "" "0000087839" "1" "90" "6" "51889474" "51889474" "subst" "0.00075994" "00006" "PKHD1_000312" "g.51889474C>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "rs141103838" "0" "" "" "g.52024676C>T" "" "pathogenic" "" "0000087840" "1" "90" "6" "51656063" "51656063" "subst" "0" "00006" "PKHD1_000313" "g.51656063A>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791265A>T" "" "pathogenic" "" "0000087841" "1" "90" "6" "51921573" "51921573" "subst" "8.13968E-6" "00006" "PKHD1_000314" "g.51921573A>G" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52056775A>G" "" "pathogenic" "" "0000087842" "1" "90" "6" "51732677" "51732677" "subst" "1.63072E-5" "00006" "PKHD1_000315" "g.51732677G>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51867879G>A" "" "pathogenic" "" "0000087843" "1" "90" "6" "51777179" "51777179" "subst" "4.07116E-6" "00006" "PKHD1_000316" "g.51777179A>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51912381A>C" "" "pathogenic" "" "0000087844" "1" "90" "6" "51799004" "51799004" "subst" "4.06213E-6" "00006" "PKHD1_000317" "g.51799004C>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51934206C>T" "" "pathogenic" "" "0000087845" "1" "90" "6" "51774093" "51774093" "subst" "4.07498E-6" "00006" "PKHD1_000318" "g.51774093C>G" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51909295C>G" "" "pathogenic" "" "0000087846" "1" "90" "6" "51774134" "51774134" "subst" "0" "00006" "PKHD1_000319" "g.51774134C>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51909336C>T" "" "pathogenic" "" "0000087847" "1" "90" "6" "51656081" "51656081" "subst" "0" "00006" "PKHD1_000320" "g.51656081A>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791283A>C" "" "pathogenic" "" "0000087848" "1" "90" "6" "51824793" "51824793" "subst" "0" "00006" "PKHD1_000321" "g.51824793C>A" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51959995C>A" "" "pathogenic" "" "0000087849" "1" "90" "6" "51612795" "51612795" "subst" "4.06898E-6" "00006" "PKHD1_000322" "g.51612795C>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747997C>T" "" "pathogenic" "" "0000087850" "1" "90" "6" "51875234" "51875234" "subst" "4.06421E-6" "00006" "PKHD1_000323" "g.51875234A>C" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010436A>C" "" "pathogenic" "" "0000087851" "1" "90" "6" "51923175" "51923175" "subst" "4.06445E-6" "00006" "PKHD1_000324" "g.51923175G>T" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058377G>T" "" "pathogenic" "" "0000087852" "1" "90" "6" "51695714" "51695715" "inv" "0" "00006" "PKHD1_000325" "g.51695714_51695715inv" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "c.8246_8247delGGinsCC" "" "Unknown" "" "" "0" "" "" "g.51830916_51830917inv" "" "pathogenic" "" "0000087853" "1" "90" "6" "51613364" "51613366" "del" "0" "00006" "PKHD1_000326" "g.51613364_51613366del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748566_51748568del" "" "pathogenic" "" "0000087854" "1" "90" "6" "51732850" "51732850" "del" "0" "00006" "PKHD1_000327" "g.51732850del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51868052del" "" "pathogenic" "" "0000087855" "1" "90" "6" "51609203" "51609203" "del" "4.06379E-6" "00006" "PKHD1_000328" "g.51609203del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51744405del" "" "pathogenic" "" "0000087856" "1" "90" "6" "51890847" "51890847" "del" "0" "00006" "PKHD1_000329" "g.51890847del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52026049del" "" "pathogenic" "" "0000087857" "1" "90" "6" "51523973" "51523973" "del" "0" "00006" "PKHD1_000330" "g.51523973del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659175del" "" "pathogenic" "" "0000087858" "1" "90" "6" "51613311" "51613311" "del" "0" "00006" "PKHD1_000331" "g.51613311del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748513del" "" "pathogenic" "" "0000087859" "1" "90" "6" "51750760" "51750760" "del" "0" "00006" "PKHD1_000332" "g.51750760del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51885962del" "" "pathogenic" "" "0000087860" "1" "90" "6" "51524290" "51524297" "del" "0" "00006" "PKHD1_000333" "g.51524290_51524297del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51659492_51659499del" "" "pathogenic" "" "0000087861" "1" "90" "6" "51618040" "51618043" "del" "0" "00006" "PKHD1_000334" "g.51618040_51618043del" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753242_51753245del" "" "pathogenic" "" "0000087862" "1" "90" "6" "51774107" "51774108" "delins" "0" "00006" "PKHD1_000335" "g.51774107_51774108delinsAG" "" "{PMID:Gunay-Aygun 2010:19914852}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51909309_51909310delinsAG" "" "pathogenic" "" "0000087863" "1" "90" "6" "51720870" "51720870" "subst" "0" "00006" "PKHD1_000336" "g.51720870T>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51856072T>C" "" "pathogenic" "" "0000087864" "1" "90" "6" "51915094" "51915094" "subst" "0" "00006" "PKHD1_000337" "g.51915094C>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52050296C>A" "" "pathogenic" "" "0000087865" "1" "10" "6" "51890709" "51890709" "subst" "0" "00006" "PKHD1_000338" "g.51890709G>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025911G>T" "" "benign" "" "0000087866" "1" "10" "6" "51751932" "51751932" "subst" "0" "00006" "PKHD1_000339" "g.51751932T>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51887134T>C" "" "benign" "" "0000087867" "1" "30" "6" "51935238" "51935238" "subst" "0" "00006" "PKHD1_000340" "g.51935238G>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52070440G>C" "" "likely benign" "" "0000087868" "1" "30" "6" "51890796" "51890796" "subst" "0" "00006" "PKHD1_000341" "g.51890796A>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52025998A>T" "" "likely benign" "" "0000087869" "1" "30" "6" "51882361" "51882361" "subst" "0" "00006" "PKHD1_000342" "g.51882361T>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017563T>C" "" "likely benign" "" "0000087870" "1" "70" "6" "51924799" "51924799" "subst" "0" "00006" "PKHD1_000343" "g.51924799T>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52060001T>A" "" "likely pathogenic" "" "0000087871" "1" "70" "6" "51887607" "51887607" "subst" "0" "00006" "PKHD1_000344" "g.51887607G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52022809G>A" "" "likely pathogenic" "" "0000087872" "1" "70" "6" "51927453" "51927453" "subst" "0" "00006" "PKHD1_000345" "g.51927453G>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52062655G>C" "" "likely pathogenic" "" "0000087873" "1" "90" "6" "51882209" "51882209" "subst" "0" "00006" "PKHD1_000346" "g.51882209T>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017411T>C" "" "pathogenic" "" "0000087874" "1" "90" "6" "51612953" "51612953" "subst" "0" "00006" "PKHD1_000347" "g.51612953T>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51748155T>C" "" "pathogenic" "" "0000087875" "1" "90" "6" "51920470" "51920470" "subst" "0" "00006" "PKHD1_000348" "g.51920470C>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52055672C>A" "" "pathogenic" "" "0000087876" "1" "90" "6" "51712768" "51712768" "subst" "1.62713E-5" "00006" "PKHD1_000349" "g.51712768A>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51847970A>T" "" "pathogenic" "" "0000087877" "1" "90" "6" "51910852" "51910852" "subst" "4.06679E-6" "00006" "PKHD1_000350" "g.51910852A>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52046054A>T" "" "pathogenic" "" "0000087878" "1" "90" "6" "51695755" "51695755" "subst" "1.22032E-5" "00006" "PKHD1_000351" "g.51695755A>C" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51830957A>C" "" "pathogenic" "" "0000087879" "1" "90" "6" "51882323" "51882323" "subst" "4.06822E-6" "00006" "PKHD1_000352" "g.51882323G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52017525G>A" "" "pathogenic" "" "0000087880" "1" "90" "6" "51750703" "51750703" "subst" "0" "00006" "PKHD1_000353" "g.51750703G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51885905G>A" "" "pathogenic" "" "0000087881" "1" "90" "6" "51927378" "51927378" "subst" "0" "00006" "PKHD1_000354" "g.51927378G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52062580G>A" "" "pathogenic" "" "0000087882" "1" "90" "6" "51900499" "51900499" "subst" "4.06345E-6" "00006" "PKHD1_000355" "g.51900499G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52035701G>A" "" "pathogenic" "" "0000087883" "1" "90" "6" "51618125" "51618125" "subst" "4.06954E-6" "00006" "PKHD1_000356" "g.51618125G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753327G>A" "" "pathogenic" "" "0000087884" "1" "90" "6" "51618014" "51618014" "subst" "4.06653E-6" "00006" "PKHD1_000357" "g.51618014G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753216G>A" "" "pathogenic" "" "0000087885" "1" "90" "6" "51921499" "51921499" "subst" "4.06808E-6" "00006" "PKHD1_000358" "g.51921499G>A" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52056701G>A" "" "pathogenic" "" "0000087886" "1" "90" "6" "51910862" "51910862" "subst" "0" "00006" "PKHD1_000359" "g.51910862G>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52046064G>T" "" "pathogenic" "" "0000087887" "1" "90" "6" "51920391" "51920391" "subst" "1.22065E-5" "00006" "PKHD1_000360" "g.51920391A>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52055593A>T" "" "pathogenic" "" "0000087888" "1" "90" "6" "51712764" "51712764" "subst" "2.03331E-5" "00006" "PKHD1_000361" "g.51712764G>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51847966G>T" "" "pathogenic" "" "0000087889" "1" "90" "6" "51927340" "51927340" "subst" "0" "00006" "PKHD1_000362" "g.51927340C>T" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52062542C>T" "" "pathogenic" "" "0000087890" "1" "90" "6" "51897856" "51897858" "delins" "0" "00006" "PKHD1_000363" "g.51897856_51897858delinsN[8]" "" "{PMID:Denamur 2010:19940839}" "" "3334_3336del3ins8" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000087891" "1" "90" "6" "51512889" "51512889" "dup" "0" "00006" "PKHD1_000364" "g.51512889dup" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51648091dup" "" "pathogenic" "" "0000087892" "1" "90" "6" "51923143" "51923148" "dup" "0" "00006" "PKHD1_000365" "g.51923143_51923148dup" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52058345_52058350dup" "" "pathogenic" "" "0000087893" "1" "90" "6" "51776719" "51776720" "ins" "0" "00006" "PKHD1_000366" "g.51776719_51776720insN[17]" "" "{PMID:Denamur 2010:19940839}" "" "6368ins17" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000087894" "1" "90" "6" "51612708" "51612708" "del" "0" "00006" "PKHD1_000367" "g.51612708del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51747910del" "" "pathogenic" "" "0000087895" "1" "90" "6" "51618052" "51618052" "del" "0" "00006" "PKHD1_000368" "g.51618052del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51753254del" "" "pathogenic" "" "0000087896" "1" "90" "6" "51768464" "51768464" "del" "0" "00006" "PKHD1_000369" "g.51768464del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51903666del" "" "pathogenic" "" "0000087897" "1" "90" "6" "51949715" "51949727" "del" "0" "00006" "PKHD1_000370" "g.51949715_51949727del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52084917_52084929del" "" "pathogenic" "" "0000087898" "1" "90" "6" "51875212" "51875212" "del" "0" "00006" "PKHD1_000371" "g.51875212del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52010414del" "" "pathogenic" "" "0000087899" "1" "90" "6" "51483919" "51483919" "del" "0" "00006" "PKHD1_000372" "g.51483919del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51619121del" "" "pathogenic" "" "0000087900" "1" "90" "6" "51887604" "51887604" "del" "4.06488E-6" "00006" "PKHD1_000373" "g.51887604del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52022806del" "" "pathogenic" "" "0000087901" "1" "90" "6" "51777201" "51777202" "del" "0" "00006" "PKHD1_000374" "g.51777201_51777202del" "" "{PMID:Denamur 2010:19940839}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51912403_51912404del" "" "pathogenic" "" "0000087902" "1" "90" "6" "51613228" "51613231" "delins" "0" "00006" "PKHD1_000375" "g.51613228_51613231delinsN[14]" "" "{PMID:Denamur 2010:19940839}" "" "9183_9186del4ins14" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000087903" "1" "10" "6" "51656162" "51656162" "subst" "0" "00006" "PKHD1_000376" "g.51656162A>G" "" "{PMID:Tinsa 2010:20415225}" "" "0" "" "Unknown" "" "" "0" "" "" "g.51791364A>G" "" "benign" "" "0000087904" "1" "10" "6" "51918923" "51918923" "subst" "0.00274743" "00006" "PKHD1_000378" "g.51918923T>C" "" "{PMID:Jang 2011:21790888}" "" "0" "" "Unknown" "" "" "0" "" "" "g.52054125T>C" "" "benign" "" "0000087905" "21" "70" "6" "51934276" "51934276" "subst" "4.06164E-6" "00006" "PKHD1_000065" "g.51934276A>G" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "g.52069478A>G" "" "likely pathogenic (recessive)" "" "0000087906" "1" "70" "6" "51889738" "51889738" "subst" "0.000158417" "00006" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Onuchic 2002:11898128}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.52024940G>A" "" "likely pathogenic" "" "0000087907" "21" "70" "6" "51935807" "51935807" "subst" "0.000101771" "00006" "PKHD1_000012" "g.51935807T>C" "" "{PMID:Onuchic 2002:11898128}" "" "0" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000087908" "11" "70" "6" "51914955" "51914955" "subst" "1.62657E-5" "00006" "PKHD1_000222" "g.51914955C>T" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "g.52050157C>T" "" "likely pathogenic (recessive)" "" "0000087909" "11" "90" "6" "51890846" "51890847" "delins" "0" "00006" "PKHD1_000224" "g.51890846_51890847delinsC" "" "{PMID:Onuchic 2002:11898128}" "" "3761_3762delCCinsG" "" "Germline" "" "" "0" "" "" "g.52026048_52026049delinsC" "" "pathogenic" "" "0000087910" "11" "90" "6" "51618120" "51618120" "dup" "0" "00006" "PKHD1_000225" "g.51618120dup" "" "{PMID:Onuchic 2002:11898128}" "" "8829_8830insC" "" "Germline" "" "" "0" "" "" "g.51753322dup" "" "pathogenic" "" "0000087911" "11" "90" "6" "51921564" "51921567" "dup" "0" "00006" "PKHD1_000229" "g.51921564_51921567dup" "" "{PMID:Onuchic 2002:11898128}" "" "1620_1621insAGTT" "" "Germline" "" "" "0" "" "" "g.52056766_52056769dup" "" "pathogenic (recessive)" "" "0000087912" "11" "90" "6" "51934319" "51934322" "del" "8.12546E-6" "00006" "PKHD1_000377" "g.51934319_51934322del" "" "{PMID:Onuchic 2002:11898128}" "" "711_714delAATG" "" "Germline" "" "" "0" "" "" "g.52069521_52069524del" "" "pathogenic (recessive)" "" "0000130032" "3" "90" "6" "51889738" "51889738" "subst" "0.000158417" "01758" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.52024940G>A" "" "pathogenic" "ACMG" "0000248193" "0" "10" "6" "51512887" "51512887" "subst" "0.0327673" "02325" "PKHD1_000383" "g.51512887A>G" "" "" "" "PKHD1(NM_138694.3):c.11340T>C (p.(Pro3780=)), PKHD1(NM_138694.4):c.11340T>C (p.P3780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51648089A>G" "" "benign" "" "0000248580" "0" "10" "6" "51921703" "51921703" "subst" "0.0669367" "02325" "PKHD1_000418" "g.51921703A>G" "" "" "" "PKHD1(NM_138694.4):c.1587T>C (p.N529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52056905A>G" "" "benign" "" "0000248581" "0" "10" "6" "51924774" "51924774" "subst" "0.990588" "02325" "PKHD1_000422" "g.51924774A>G" "" "" "" "PKHD1(NM_138694.4):c.1185T>C (p.D395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52059976A>G" "" "benign" "" "0000248822" "0" "10" "6" "51875250" "51875250" "subst" "0.989904" "02325" "PKHD1_000405" "g.51875250A>C" "" "" "" "PKHD1(NM_138694.4):c.5608T>G (p.L1870V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52010452A>C" "" "benign" "" "0000249100" "0" "10" "6" "51695647" "51695647" "subst" "0.374525" "02325" "PKHD1_000396" "g.51695647A>T" "" "" "" "PKHD1(NM_138694.4):c.8302+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51830849A>T" "" "benign" "" "0000249682" "0" "90" "6" "51524512" "51524512" "subst" "6.9194E-5" "02325" "PKHD1_000050" "g.51524512A>C" "" "" "" "PKHD1(NM_138694.4):c.10412T>G (p.V3471G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659714A>C" "" "pathogenic" "" "0000250896" "0" "10" "6" "51512887" "51512887" "subst" "0.0327673" "02326" "PKHD1_000383" "g.51512887A>G" "" "" "" "PKHD1(NM_138694.3):c.11340T>C (p.(Pro3780=)), PKHD1(NM_138694.4):c.11340T>C (p.P3780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51648089A>G" "" "benign" "" "0000251097" "0" "10" "6" "51491866" "51491866" "subst" "0.0271308" "02326" "PKHD1_000381" "g.51491866A>T" "" "" "" "PKHD1(NM_138694.3):c.11714T>A (p.(Ile3905Asn)), PKHD1(NM_138694.4):c.11714T>A (p.I3905N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51627068A>T" "" "benign" "" "0000251389" "0" "10" "6" "51612575" "51612575" "subst" "0.00131437" "02326" "PKHD1_000388" "g.51612575A>C" "" "" "" "PKHD1(NM_138694.3):c.9829+10T>G (p.(=)), PKHD1(NM_138694.4):c.9829+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51747777A>C" "" "benign" "" "0000252517" "0" "90" "6" "51768399" "51768399" "subst" "0.000451183" "02326" "PKHD1_000020" "g.51768399A>T" "" "" "" "PKHD1(NM_138694.4):c.6992T>A (p.(Ile2331Lys), p.I2331K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51903601A>T" "" "pathogenic" "" "0000255946" "0" "50" "6" "51930807" "51930807" "subst" "4.87547E-5" "01943" "PKHD1_000423" "g.51930807A>G" "" "" "" "PKHD1(NM_138694.3):c.847T>C (p.F283L, p.(Phe283Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52066009A>G" "" "VUS" "" "0000296990" "0" "10" "6" "51586772" "51586772" "subst" "0.163037" "02325" "PKHD1_000387" "g.51586772C>T" "" "" "" "PKHD1(NM_170724.3):c.*12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51721974C>T" "" "benign" "" "0000296991" "0" "10" "6" "51586771" "51586771" "subst" "0.658139" "02325" "PKHD1_000386" "g.51586771G>A" "" "" "" "PKHD1(NM_170724.3):c.*13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51721973G>A" "" "benign" "" "0000296992" "0" "90" "6" "51947999" "51947999" "subst" "0.000447027" "02325" "PKHD1_000018" "g.51947999G>A" "" "" "" "PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52083201G>A" "" "pathogenic" "" "0000296993" "0" "10" "6" "51483961" "51483961" "subst" "0.566854" "02325" "PKHD1_000379" "g.51483961T>C" "" "" "" "PKHD1(NM_138694.4):c.12143A>G (p.Q4048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51619163T>C" "" "benign" "" "0000296994" "0" "90" "6" "51923147" "51923147" "subst" "0.000699244" "02325" "PKHD1_000041" "g.51923147G>A" "" "" "" "PKHD1(NM_138694.4):c.1486C>T (p.R496*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic" "" "0000296995" "0" "10" "6" "51920485" "51920485" "subst" "0.0245067" "02325" "PKHD1_000417" "g.51920485G>A" "" "" "" "PKHD1(NM_138694.3):c.1736C>T (p.(Thr579Met)), PKHD1(NM_138694.4):c.1736C>T (p.T579M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52055687G>A" "" "benign" "" "0000296996" "0" "10" "6" "51914956" "51914956" "subst" "0.47711" "02325" "PKHD1_000415" "g.51914956G>A" "" "" "" "PKHD1(NM_138694.4):c.2278C>T (p.R760C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52050158G>A" "" "benign" "" "0000296997" "0" "10" "6" "51910905" "51910905" "subst" "0.0669927" "02325" "PKHD1_000414" "g.51910905T>C" "" "" "" "PKHD1(NM_138694.4):c.2489A>G (p.N830S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52046107T>C" "" "benign" "" "0000296998" "0" "30" "6" "51893107" "51893107" "subst" "0.00773686" "02325" "PKHD1_000006" "g.51893107T>C" "" "" "" "PKHD1(NM_138694.3):c.3407A>G (p.(Tyr1136Cys)), PKHD1(NM_138694.4):c.3407A>G (p.Y1136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52028309T>C" "" "likely benign" "" "0000296999" "0" "90" "6" "51944735" "51944735" "del" "5.28022E-5" "02325" "PKHD1_000426" "g.51944735del" "" "" "" "PKHD1(NM_138694.3):c.353del (p.(Ser118Ilefs*35)), PKHD1(NM_138694.3):c.353delG (p.S118Ifs*35), PKHD1(NM_138694.4):c.353delG (p.S118Ifs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52079937del" "" "pathogenic" "" "0000297000" "0" "10" "6" "51890823" "51890823" "subst" "0.479928" "02325" "PKHD1_000409" "g.51890823G>A" "" "" "" "PKHD1(NM_138694.4):c.3785C>T (p.A1262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52026025G>A" "" "benign" "" "0000297002" "0" "10" "6" "51824680" "51824680" "subst" "0.0318054" "02325" "PKHD1_000403" "g.51824680G>A" "" "" "" "PKHD1(NM_138694.3):c.5896C>T (p.(=)), PKHD1(NM_138694.4):c.5896C>T (p.L1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51959882G>A" "" "benign" "" "0000297003" "0" "10" "6" "51732807" "51732807" "subst" "0.499527" "02325" "PKHD1_000398" "g.51732807C>T" "" "" "" "PKHD1(NM_138694.4):c.7587G>A (p.G2529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51868009C>T" "" "benign" "" "0000297004" "0" "50" "6" "51619591" "51619591" "subst" "2.44143E-5" "02325" "PKHD1_000214" "g.51619591G>A" "" "" "" "PKHD1(NM_138694.4):c.8788C>T (p.R2930W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51754793G>A" "" "VUS" "" "0000297005" "0" "10" "6" "51618170" "51618170" "subst" "0.746626" "02325" "PKHD1_000393" "g.51618170T>G" "" "" "" "PKHD1(NM_138694.3):c.8798-19delinsC (p.(=)), PKHD1(NM_138694.4):c.8798-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51753372T>G" "" "benign" "" "0000297006" "0" "90" "6" "51612725" "51612725" "del" "7.31803E-5" "02325" "PKHD1_000390" "g.51612725del" "" "" "" "PKHD1(NM_138694.4):c.9689delA (p.D3230Vfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51747927del" "" "pathogenic" "" "0000298879" "0" "90" "6" "51913356" "51913356" "subst" "4.062E-5" "02329" "PKHD1_000221" "g.51913356G>A" "" "" "" "PKHD1(NM_138694.3):c.2341C>T (p.R781*, p.(Arg781*)), PKHD1(NM_138694.4):c.2341C>T (p.R781*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52048558G>A" "" "pathogenic" "" "0000300837" "0" "10" "6" "51524409" "51524409" "subst" "0.006812" "02326" "PKHD1_000385" "g.51524409G>T" "" "" "" "PKHD1(NM_138694.3):c.10515C>A (p.(Ser3505Arg)), PKHD1(NM_138694.4):c.10515C>A (p.S3505R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659611G>T" "" "benign" "" "0000300838" "0" "90" "6" "51524159" "51524159" "subst" "0" "02326" "PKHD1_000102" "g.51524159G>A" "" "" "" "PKHD1(NM_138694.4):c.10765C>T (p.Q3589*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659361G>A" "" "pathogenic" "" "0000300839" "0" "90" "6" "51523850" "51523850" "subst" "4.06868E-6" "02326" "PKHD1_000103" "g.51523850G>A" "" "" "" "PKHD1(NM_138694.4):c.11074C>T (p.R3692*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659052G>A" "" "pathogenic" "" "0000300840" "0" "10" "6" "51523739" "51523739" "subst" "0.013013" "02326" "PKHD1_000384" "g.51523739T>C" "" "" "" "PKHD1(NM_138694.3):c.11174+11A>G (p.(=)), PKHD1(NM_138694.4):c.11174+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51658941T>C" "" "benign" "" "0000300841" "0" "10" "6" "51497503" "51497503" "subst" "0.0190629" "02326" "PKHD1_000382" "g.51497503C>A" "" "" "" "PKHD1(NM_138694.3):c.11525G>T (p.(Arg3842Leu)), PKHD1(NM_138694.4):c.11525G>T (p.R3842L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51632705C>A" "" "benign" "" "0000300842" "0" "10" "6" "51484226" "51484226" "subst" "0.0143604" "02326" "PKHD1_000380" "g.51484226C>T" "" "" "" "PKHD1(NM_138694.3):c.11878G>A (p.(Val3960Ile)), PKHD1(NM_138694.4):c.11878G>A (p.V3960I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51619428C>T" "" "benign" "" "0000300843" "0" "70" "6" "51923197" "51923197" "subst" "0" "02326" "PKHD1_000419" "g.51923197T>A" "" "" "" "PKHD1(NM_138694.4):c.1436A>T (p.N479I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52058399T>A" "" "likely pathogenic" "" "0000300844" "0" "10" "6" "51920485" "51920485" "subst" "0.0245067" "02326" "PKHD1_000417" "g.51920485G>A" "" "" "" "PKHD1(NM_138694.3):c.1736C>T (p.(Thr579Met)), PKHD1(NM_138694.4):c.1736C>T (p.T579M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52055687G>A" "" "benign" "" "0000300845" "0" "90" "6" "51913356" "51913356" "subst" "4.062E-5" "02326" "PKHD1_000221" "g.51913356G>A" "" "" "" "PKHD1(NM_138694.3):c.2341C>T (p.R781*, p.(Arg781*)), PKHD1(NM_138694.4):c.2341C>T (p.R781*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52048558G>A" "" "pathogenic" "" "0000300846" "0" "10" "6" "51910905" "51910905" "subst" "0.0669927" "02326" "PKHD1_000414" "g.51910905T>C" "" "" "" "PKHD1(NM_138694.4):c.2489A>G (p.N830S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52046107T>C" "" "benign" "" "0000300847" "0" "10" "6" "51907642" "51907642" "subst" "0.000204035" "02326" "PKHD1_000413" "g.51907642C>A" "" "" "" "PKHD1(NM_138694.4):c.3097+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52042844C>A" "" "benign" "" "0000300848" "0" "30" "6" "51893107" "51893107" "subst" "0.00773686" "02326" "PKHD1_000006" "g.51893107T>C" "" "" "" "PKHD1(NM_138694.3):c.3407A>G (p.(Tyr1136Cys)), PKHD1(NM_138694.4):c.3407A>G (p.Y1136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52028309T>C" "" "likely benign" "" "0000300849" "0" "10" "6" "51890922" "51890922" "subst" "0.00264457" "02326" "PKHD1_000411" "g.51890922C>G" "" "" "" "PKHD1(NM_138694.3):c.3686G>C (p.(Trp1229Ser)), PKHD1(NM_138694.4):c.3686G>C (p.W1229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52026124C>G" "" "benign" "" "0000300850" "0" "10" "6" "51889764" "51889764" "subst" "0.000775836" "02326" "PKHD1_000408" "g.51889764G>A" "" "" "" "PKHD1(NM_138694.3):c.4844C>T (p.(Thr1615Met)), PKHD1(NM_138694.4):c.4844C>T (p.T1615M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52024966G>A" "" "benign" "" "0000300851" "0" "10" "6" "51889358" "51889358" "subst" "0.029288" "02326" "PKHD1_000406" "g.51889358T>C" "" "" "" "PKHD1(NM_138694.3):c.5236+14A>G (p.(=)), PKHD1(NM_138694.4):c.5236+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52024560T>C" "" "benign" "" "0000300852" "0" "10" "6" "51824680" "51824680" "subst" "0.0318054" "02326" "PKHD1_000403" "g.51824680G>A" "" "" "" "PKHD1(NM_138694.3):c.5896C>T (p.(=)), PKHD1(NM_138694.4):c.5896C>T (p.L1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51959882G>A" "" "benign" "" "0000300853" "0" "10" "6" "51776766" "51776767" "del" "0" "02326" "PKHD1_000400" "g.51776766_51776767del" "" "" "" "PKHD1(NM_138694.3):c.6333-8_6333-7del (p.(=)), PKHD1(NM_138694.4):c.6333-8_6333-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51911968_51911969del" "" "benign" "" "0000300854" "0" "10" "6" "51747934" "51747934" "subst" "0.000325283" "02326" "PKHD1_000399" "g.51747934G>A" "" "" "" "PKHD1(NM_138694.4):c.7307C>T (p.T2436I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51883136G>A" "" "benign" "" "0000300855" "0" "10" "6" "51930886" "51930886" "del" "0" "02326" "PKHD1_000424" "g.51930886del" "" "" "" "PKHD1(NM_138694.4):c.779-10delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52066088del" "" "benign" "" "0000300856" "0" "10" "6" "51930900" "51930900" "dup" "0" "02326" "PKHD1_000425" "g.51930900dup" "" "" "" "PKHD1(NM_138694.3):c.779-12dup (p.(=)), PKHD1(NM_138694.4):c.779-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52066102dup" "" "benign" "" "0000300858" "0" "30" "6" "51612999" "51612999" "subst" "0.00417026" "02326" "PKHD1_000008" "g.51612999C>A" "" "" "" "PKHD1(NM_138694.3):c.9415G>T (p.D3139Y, p.(Asp3139Tyr)), PKHD1(NM_138694.4):c.9415G>T (p.D3139Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51748201C>A" "" "likely benign" "" "0000300859" "0" "10" "6" "51612837" "51612837" "subst" "0.00489765" "02326" "PKHD1_000391" "g.51612837C>T" "" "" "" "PKHD1(NM_138694.3):c.9577G>A (p.(Val3193Ile)), PKHD1(NM_138694.4):c.9577G>A (p.V3193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51748039C>T" "" "benign" "" "0000305746" "0" "50" "6" "51923389" "51923389" "subst" "0" "01943" "PKHD1_000421" "g.51923389G>A" "" "" "" "PKHD1(NM_138694.3):c.1244C>T (p.A415V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52058591G>A" "" "VUS" "" "0000305747" "0" "50" "6" "51923212" "51923212" "subst" "0" "01943" "PKHD1_000420" "g.51923212T>A" "" "" "" "PKHD1(NM_138694.3):c.1421A>T (p.H474L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52058414T>A" "" "VUS" "" "0000305748" "0" "30" "6" "51917921" "51917921" "subst" "7.72377E-5" "01943" "PKHD1_000416" "g.51917921C>T" "" "" "" "PKHD1(NM_138694.3):c.2093G>A (p.G698D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52053123C>T" "" "likely benign" "" "0000305749" "0" "30" "6" "51947196" "51947196" "subst" "0.000621931" "01943" "PKHD1_000427" "g.51947196C>T" "" "" "" "PKHD1(NM_138694.3):c.275G>A (p.R92Q, p.(Arg92Gln)), PKHD1(NM_138694.4):c.275G>A (p.R92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52082398C>T" "" "likely benign" "" "0000305750" "0" "30" "6" "51900434" "51900434" "subst" "2.4378E-5" "01943" "PKHD1_000412" "g.51900434G>A" "" "" "" "PKHD1(NM_138694.3):c.3183C>T (p.V1061=, p.(Val1061=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52035636G>A" "" "likely benign" "" "0000305751" "0" "90" "6" "51944735" "51944735" "del" "5.28022E-5" "01943" "PKHD1_000426" "g.51944735del" "" "" "" "PKHD1(NM_138694.3):c.353del (p.(Ser118Ilefs*35)), PKHD1(NM_138694.3):c.353delG (p.S118Ifs*35), PKHD1(NM_138694.4):c.353delG (p.S118Ifs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52079937del" "" "pathogenic" "" "0000305752" "0" "30" "6" "51890825" "51890825" "subst" "0.000562352" "01943" "PKHD1_000410" "g.51890825G>A" "" "" "" "PKHD1(NM_138694.3):c.3783C>T (p.G1261=, p.(Gly1261=)), PKHD1(NM_138694.4):c.3783C>T (p.G1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52026027G>A" "" "likely benign" "" "0000305753" "0" "30" "6" "51889688" "51889688" "subst" "0.00220221" "01943" "PKHD1_000407" "g.51889688T>C" "" "" "" "PKHD1(NM_138694.3):c.4920A>G (p.V1640=, p.(Val1640=)), PKHD1(NM_138694.4):c.4920A>G (p.V1640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52024890T>C" "" "likely benign" "" "0000305754" "0" "50" "6" "51875243" "51875243" "subst" "0" "01943" "PKHD1_000404" "g.51875243C>G" "" "" "" "PKHD1(NM_138694.3):c.5615G>C (p.R1872T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52010445C>G" "" "VUS" "" "0000305755" "0" "10" "6" "51777251" "51777251" "subst" "0.00771151" "01943" "PKHD1_000401" "g.51777251G>A" "" "" "" "PKHD1(NM_138694.3):c.6245C>T (p.T2082I, p.(Thr2082Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51912453G>A" "" "benign" "" "0000305756" "0" "30" "6" "51732719" "51732719" "subst" "0.00105014" "01943" "PKHD1_000397" "g.51732719C>G" "" "" "" "PKHD1(NM_138694.3):c.7675G>C (p.V2559L, p.(Val2559Leu)), PKHD1(NM_138694.4):c.7675G>C (p.V2559L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51867921C>G" "" "likely benign" "" "0000305757" "0" "50" "6" "51712759" "51712759" "subst" "0.00205298" "01943" "PKHD1_000093" "g.51712759T>C" "" "" "" "PKHD1(NM_138694.3):c.7921A>G (p.T2641A, p.(Thr2641Ala)), PKHD1(NM_138694.4):c.7921A>G (p.T2641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51847961T>C" "" "VUS" "" "0000305758" "0" "10" "6" "51656129" "51656129" "subst" "0.00267941" "01943" "PKHD1_000395" "g.51656129C>G" "" "" "" "PKHD1(NM_138694.3):c.8345G>C (p.G2782A, p.(Gly2782Ala)), PKHD1(NM_138694.4):c.8345G>C (p.G2782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51791331C>G" "" "benign" "" "0000305759" "0" "10" "6" "51619598" "51619598" "subst" "0" "01943" "PKHD1_000394" "g.51619598G>C" "" "" "" "PKHD1(NM_138694.3):c.8781C>G (p.L2927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51754800G>C" "" "benign" "" "0000305760" "0" "30" "6" "51612999" "51612999" "subst" "0.00417026" "01943" "PKHD1_000008" "g.51612999C>A" "" "" "" "PKHD1(NM_138694.3):c.9415G>T (p.D3139Y, p.(Asp3139Tyr)), PKHD1(NM_138694.4):c.9415G>T (p.D3139Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51748201C>A" "" "likely benign" "" "0000305761" "0" "50" "6" "51612936" "51612936" "subst" "0.000346066" "01943" "PKHD1_000392" "g.51612936G>A" "" "" "" "PKHD1(NM_138694.3):c.9478C>T (p.H3160Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51748138G>A" "" "VUS" "" "0000305762" "0" "30" "6" "51612700" "51612700" "subst" "7.31743E-5" "01943" "PKHD1_000389" "g.51612700T>C" "" "" "" "PKHD1(NM_138694.3):c.9714A>G (p.G3238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51747902T>C" "" "likely benign" "" "0000340726" "0" "10" "6" "51924774" "51924774" "subst" "0.990588" "02327" "PKHD1_000422" "g.51924774A>G" "" "" "" "PKHD1(NM_138694.4):c.1185T>C (p.D395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52059976A>G" "" "benign" "" "0000340810" "0" "10" "6" "51524403" "51524403" "subst" "0.0662172" "02327" "PKHD1_000429" "g.51524403G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659605G>A" "" "benign" "" "0000342028" "0" "70" "6" "51889738" "51889738" "subst" "0.000158417" "02327" "PKHD1_000163" "g.51889738G>A" "" "" "" "PKHD1(NM_138694.3):c.4870C>T (p.R1624W), PKHD1(NM_138694.4):c.4870C>T (p.R1624W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52024940G>A" "" "likely pathogenic" "" "0000342358" "0" "50" "6" "51751931" "51751931" "subst" "0" "02327" "PKHD1_000434" "g.51751931C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51887133C>G" "" "VUS" "" "0000342767" "0" "70" "6" "51924836" "51924836" "subst" "2.03353E-5" "02327" "PKHD1_000262" "g.51924836G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52060038G>A" "" "likely pathogenic" "" "0000343822" "0" "70" "6" "51915054" "51915054" "subst" "0" "02327" "PKHD1_000269" "g.51915054T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52050256T>C" "" "likely pathogenic" "" "0000344068" "0" "50" "6" "51524305" "51524305" "subst" "6.93974E-5" "02327" "PKHD1_000428" "g.51524305T>C" "" "" "" "PKHD1(NM_138694.3):c.10619A>G (p.D3540G), PKHD1(NM_138694.4):c.10619A>G (p.(Asp3540Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659507T>C" "" "VUS" "" "0000344775" "0" "90" "6" "51524705" "51524705" "subst" "8.161E-6" "02327" "PKHD1_000125" "g.51524705G>A" "" "" "" "PKHD1(NM_138694.3):c.10219C>T (p.(Gln3407*)), PKHD1(NM_138694.4):c.10219C>T (p.Q3407*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51659907G>A" "" "pathogenic" "" "0000345993" "0" "50" "6" "51612698" "51612698" "subst" "0" "02327" "PKHD1_000430" "g.51612698C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51747900C>A" "" "VUS" "" "0000346643" "0" "50" "6" "51768399" "51768399" "subst" "0.000451183" "02327" "PKHD1_000020" "g.51768399A>T" "" "" "" "PKHD1(NM_138694.4):c.6992T>A (p.(Ile2331Lys), p.I2331K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51903601A>T" "" "VUS" "" "0000348323" "0" "50" "6" "51720858" "51720858" "subst" "0.000747724" "02327" "PKHD1_000432" "g.51720858G>A" "" "" "" "PKHD1(NM_138694.3):c.7744C>T (p.P2582S, p.(Pro2582Ser)), PKHD1(NM_138694.4):c.7744C>T (p.P2582S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51856060G>A" "" "VUS" "" "0000349768" "0" "90" "6" "51613184" "51613184" "subst" "0" "02327" "PKHD1_000431" "g.51613184C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51748386C>T" "" "pathogenic" "" "0000369673" "0" "70" "6" "51637536" "51637536" "subst" "0.00920578" "02509" "PKHD1_000081" "g.51637536G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51772738G>T" "" "likely pathogenic" "" "0000369674" "0" "70" "6" "51882310" "51882310" "subst" "0.000170814" "02509" "PKHD1_000080" "g.51882310G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52017512G>A" "" "likely pathogenic" "" "0000369675" "0" "70" "6" "51889483" "51889483" "subst" "0.00273055" "02509" "PKHD1_000094" "g.51889483G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024685G>A" "" "likely pathogenic" "" "0000369676" "0" "70" "6" "51889483" "51889483" "subst" "0.00273055" "02509" "PKHD1_000094" "g.51889483G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52024685G>A" "" "likely pathogenic" "" "0000529034" "0" "10" "6" "51484226" "51484226" "subst" "0.0143604" "01804" "PKHD1_000380" "g.51484226C>T" "" "" "" "PKHD1(NM_138694.3):c.11878G>A (p.(Val3960Ile)), PKHD1(NM_138694.4):c.11878G>A (p.V3960I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51619428C>T" "" "benign" "" "0000529035" "0" "10" "6" "51491884" "51491884" "subst" "0.559116" "02325" "PKHD1_000436" "g.51491884T>C" "" "" "" "PKHD1(NM_138694.4):c.11696A>G (p.Q3899R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51627086T>C" "" "benign" "" "0000529037" "0" "30" "6" "51497503" "51497503" "subst" "0.0190629" "01804" "PKHD1_000382" "g.51497503C>A" "" "" "" "PKHD1(NM_138694.3):c.11525G>T (p.(Arg3842Leu)), PKHD1(NM_138694.4):c.11525G>T (p.R3842L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51632705C>A" "" "likely benign" "" "0000529038" "0" "10" "6" "51497519" "51497519" "subst" "0.0114586" "01804" "PKHD1_000438" "g.51497519C>T" "" "" "" "PKHD1(NM_138694.3):c.11509G>A (p.(Val3837Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51632721C>T" "" "benign" "" "0000529039" "0" "30" "6" "51512837" "51512837" "subst" "0" "01943" "PKHD1_000439" "g.51512837A>G" "" "" "" "PKHD1(NM_138694.3):c.11390T>C (p.V3797A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51648039A>G" "" "likely benign" "" "0000529040" "0" "10" "6" "51512887" "51512887" "subst" "0.0327673" "01804" "PKHD1_000383" "g.51512887A>G" "" "" "" "PKHD1(NM_138694.3):c.11340T>C (p.(Pro3780=)), PKHD1(NM_138694.4):c.11340T>C (p.P3780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51648089A>G" "" "benign" "" "0000529043" "0" "30" "6" "51524065" "51524065" "subst" "0.000236051" "01804" "PKHD1_000442" "g.51524065C>T" "" "" "" "PKHD1(NM_138694.3):c.10859G>A (p.R3620H, p.(Arg3620His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659267C>T" "" "likely benign" "" "0000529044" "0" "10" "6" "51524339" "51524339" "subst" "0.00289374" "02325" "PKHD1_000001" "g.51524339C>G" "" "" "" "PKHD1(NM_138694.3):c.10585G>C (p.(Glu3529Gln)), PKHD1(NM_138694.4):c.10585G>C (p.E3529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659541C>G" "" "benign" "" "0000529045" "0" "30" "6" "51524409" "51524409" "subst" "0.006812" "01804" "PKHD1_000385" "g.51524409G>T" "" "" "" "PKHD1(NM_138694.3):c.10515C>A (p.(Ser3505Arg)), PKHD1(NM_138694.4):c.10515C>A (p.S3505R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659611G>T" "" "likely benign" "" "0000529046" "0" "30" "6" "51524410" "51524410" "subst" "4.49203E-5" "01943" "PKHD1_000443" "g.51524410C>T" "" "" "" "PKHD1(NM_138694.3):c.10514G>A (p.S3505N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659612C>T" "" "likely benign" "" "0000529047" "0" "30" "6" "51524432" "51524432" "subst" "1.63281E-5" "01804" "PKHD1_000444" "g.51524432C>T" "" "" "" "PKHD1(NM_138694.3):c.10492G>A (p.(Val3498Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659634C>T" "" "likely benign" "" "0000529048" "0" "50" "6" "51524480" "51524480" "subst" "5.29626E-5" "02327" "PKHD1_000034" "g.51524480G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659682G>A" "" "VUS" "" "0000529049" "0" "30" "6" "51524714" "51524714" "subst" "0.000138793" "01804" "PKHD1_000445" "g.51524714T>C" "" "" "" "PKHD1(NM_138694.3):c.10210A>G (p.(Ile3404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659916T>C" "" "likely benign" "" "0000529050" "0" "50" "6" "51611651" "51611651" "subst" "0.00320982" "01943" "PKHD1_000004" "g.51611651C>A" "" "" "" "PKHD1(NM_138694.3):c.9866G>T (p.S3289I, p.(Ser3289Ile)), PKHD1(NM_138694.4):c.9866G>T (p.S3289I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51746853C>A" "" "VUS" "" "0000529051" "0" "30" "6" "51611651" "51611651" "subst" "0.00320982" "02326" "PKHD1_000004" "g.51611651C>A" "" "" "" "PKHD1(NM_138694.3):c.9866G>T (p.S3289I, p.(Ser3289Ile)), PKHD1(NM_138694.4):c.9866G>T (p.S3289I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51746853C>A" "" "likely benign" "" "0000529052" "0" "50" "6" "51612626" "51612626" "subst" "0.0016469" "01943" "PKHD1_000007" "g.51612626A>G" "" "" "" "PKHD1(NM_138694.3):c.9788T>C (p.V3263A, p.(Val3263Ala)), PKHD1(NM_138694.4):c.9788T>C (p.V3263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51747828A>G" "" "VUS" "" "0000529053" "0" "10" "6" "51612837" "51612837" "subst" "0.00489765" "01804" "PKHD1_000391" "g.51612837C>T" "" "" "" "PKHD1(NM_138694.3):c.9577G>A (p.(Val3193Ile)), PKHD1(NM_138694.4):c.9577G>A (p.V3193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51748039C>T" "" "benign" "" "0000529054" "0" "30" "6" "51612999" "51612999" "subst" "0.00417026" "01804" "PKHD1_000008" "g.51612999C>A" "" "" "" "PKHD1(NM_138694.3):c.9415G>T (p.D3139Y, p.(Asp3139Tyr)), PKHD1(NM_138694.4):c.9415G>T (p.D3139Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51748201C>A" "" "likely benign" "" "0000529055" "0" "30" "6" "51613145" "51613145" "subst" "0" "01804" "PKHD1_000446" "g.51613145T>C" "" "" "" "PKHD1(NM_138694.3):c.9269A>G (p.(Asn3090Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51748347T>C" "" "likely benign" "" "0000529056" "0" "30" "6" "51613146" "51613146" "subst" "0" "01943" "PKHD1_000447" "g.51613146T>C" "" "" "" "PKHD1(NM_138694.3):c.9268A>G (p.N3090D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51748348T>C" "" "likely benign" "" "0000529057" "0" "30" "6" "51613372" "51613372" "subst" "0" "01804" "PKHD1_000448" "g.51613372C>G" "" "" "" "PKHD1(NM_138694.3):c.9042G>C (p.(Trp3014Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51748574C>G" "" "likely benign" "" "0000529058" "0" "10" "6" "51637536" "51637536" "subst" "0.00920578" "01804" "PKHD1_000081" "g.51637536G>T" "" "" "" "PKHD1(NM_138694.3):c.8606C>A (p.(Thr2869Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51772738G>T" "" "benign" "" "0000529059" "0" "30" "6" "51637561" "51637561" "subst" "0.0034217" "01804" "PKHD1_000089" "g.51637561T>C" "" "" "" "PKHD1(NM_138694.3):c.8581A>G (p.S2861G, p.(Ser2861Gly)), PKHD1(NM_138694.4):c.8581A>G (p.S2861G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51772763T>C" "" "likely benign" "" "0000529060" "0" "30" "6" "51640639" "51640639" "subst" "0.00278827" "01804" "PKHD1_000206" "g.51640639T>C" "" "" "" "PKHD1(NM_138694.3):c.8521A>G (p.(Met2841Val)), PKHD1(NM_138694.4):c.8521A>G (p.M2841V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51775841T>C" "" "likely benign" "" "0000529061" "0" "30" "6" "51640666" "51640666" "subst" "3.67644E-5" "01804" "PKHD1_000449" "g.51640666C>A" "" "" "" "PKHD1(NM_138694.3):c.8494G>T (p.(Ala2832Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51775868C>A" "" "likely benign" "" "0000529062" "0" "90" "6" "51695771" "51695771" "del" "0" "02327" "PKHD1_000450" "g.51695771del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51830973del" "" "pathogenic" "" "0000529063" "0" "30" "6" "51712668" "51712668" "subst" "4.06633E-6" "01804" "PKHD1_000451" "g.51712668C>G" "" "" "" "PKHD1(NM_138694.3):c.8012G>C (p.(Arg2671Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51847870C>G" "" "likely benign" "" "0000529064" "0" "10" "6" "51712759" "51712759" "subst" "0.00205298" "02325" "PKHD1_000093" "g.51712759T>C" "" "" "" "PKHD1(NM_138694.3):c.7921A>G (p.T2641A, p.(Thr2641Ala)), PKHD1(NM_138694.4):c.7921A>G (p.T2641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51847961T>C" "" "benign" "" "0000529065" "0" "30" "6" "51720858" "51720858" "subst" "0.000747724" "01943" "PKHD1_000432" "g.51720858G>A" "" "" "" "PKHD1(NM_138694.3):c.7744C>T (p.P2582S, p.(Pro2582Ser)), PKHD1(NM_138694.4):c.7744C>T (p.P2582S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51856060G>A" "" "likely benign" "" "0000529066" "0" "30" "6" "51768795" "51768795" "subst" "0.00129577" "01804" "PKHD1_000009" "g.51768795C>T" "" "" "" "PKHD1(NM_138694.3):c.6854G>A (p.G2285E, p.(Gly2285Glu)), PKHD1(NM_138694.4):c.6854G>A (p.G2285E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51903997C>T" "" "likely benign" "" "0000529067" "0" "30" "6" "51776716" "51776716" "subst" "0" "01804" "PKHD1_000452" "g.51776716T>C" "" "" "" "PKHD1(NM_138694.3):c.6371A>G (p.(Glu2124Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51911918T>C" "" "likely benign" "" "0000529068" "0" "30" "6" "51777251" "51777251" "subst" "0.00771151" "01804" "PKHD1_000401" "g.51777251G>A" "" "" "" "PKHD1(NM_138694.3):c.6245C>T (p.T2082I, p.(Thr2082Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51912453G>A" "" "likely benign" "" "0000529069" "0" "30" "6" "51777285" "51777285" "subst" "0.00125633" "01804" "PKHD1_000453" "g.51777285T>G" "" "" "" "PKHD1(NM_138694.3):c.6211A>C (p.(Asn2071His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51912487T>G" "" "likely benign" "" "0000529070" "0" "90" "6" "51824681" "51824681" "dup" "0" "02325" "PKHD1_000027" "g.51824681dup" "" "" "" "PKHD1(NM_138694.4):c.5895dupA (p.L1966Tfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51959883dup" "" "pathogenic" "" "0000529071" "0" "50" "6" "51824808" "51824808" "subst" "0.000729421" "01804" "PKHD1_000164" "g.51824808T>A" "" "" "" "PKHD1(NM_138694.3):c.5768A>T (p.Q1923L, p.(Gln1923Leu)), PKHD1(NM_138694.4):c.5768A>T (p.Q1923L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960010T>A" "" "VUS" "" "0000529072" "0" "90" "6" "51882326" "51882327" "del" "0" "02329" "PKHD1_000454" "g.51882326_51882327del" "" "" "" "PKHD1(NM_138694.4):c.5483_5484delAG (p.E1828Afs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52017528_52017529del" "" "pathogenic" "" "0000529073" "0" "50" "6" "51882333" "51882333" "del" "0" "01804" "PKHD1_000455" "g.51882333del" "" "" "" "PKHD1(NM_138694.3):c.5476delG (p.(Ala1826ArgfsTer148)), PKHD1(NM_138694.4):c.5476delG (p.A1826Rfs*148)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52017535del" "" "VUS" "" "0000529074" "0" "90" "6" "51882333" "51882333" "del" "0" "02329" "PKHD1_000455" "g.51882333del" "" "" "" "PKHD1(NM_138694.3):c.5476delG (p.(Ala1826ArgfsTer148)), PKHD1(NM_138694.4):c.5476delG (p.A1826Rfs*148)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52017535del" "" "pathogenic" "" "0000529075" "0" "50" "6" "51882398" "51882398" "subst" "0.000232138" "01943" "PKHD1_000209" "g.51882398G>A" "" "" "" "PKHD1(NM_138694.3):c.5410C>T (p.R1804C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52017600G>A" "" "VUS" "" "0000529076" "0" "90" "6" "51887604" "51887604" "del" "4.06488E-6" "01804" "PKHD1_000456" "g.51887604del" "" "" "" "PKHD1(NM_138694.3):c.5375del (p.(Leu1792ArgfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52022806del" "" "pathogenic" "" "0000529077" "0" "70" "6" "51887619" "51887619" "subst" "1.62628E-5" "01804" "PKHD1_000173" "g.51887619C>A" "" "" "" "PKHD1(NM_138694.3):c.5360G>T (p.(Cys1787Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52022821C>A" "" "likely pathogenic" "" "0000529078" "0" "10" "6" "51889358" "51889358" "subst" "0.029288" "01804" "PKHD1_000406" "g.51889358T>C" "" "" "" "PKHD1(NM_138694.3):c.5236+14A>G (p.(=)), PKHD1(NM_138694.4):c.5236+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52024560T>C" "" "benign" "" "0000529079" "0" "30" "6" "51889483" "51889483" "subst" "0.00273055" "01804" "PKHD1_000094" "g.51889483G>A" "" "" "" "PKHD1(NM_138694.3):c.5125C>T (p.(Leu1709Phe)), PKHD1(NM_138694.4):c.5125C>T (p.L1709F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52024685G>A" "" "likely benign" "" "0000529080" "0" "90" "6" "51889738" "51889738" "subst" "0.000158417" "02326" "PKHD1_000163" "g.51889738G>A" "" "" "" "PKHD1(NM_138694.3):c.4870C>T (p.R1624W), PKHD1(NM_138694.4):c.4870C>T (p.R1624W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52024940G>A" "" "pathogenic" "" "0000529081" "0" "50" "6" "51889903" "51889903" "subst" "0" "02327" "PKHD1_000457" "g.51889903A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52025105A>C" "" "VUS" "" "0000529082" "0" "30" "6" "51890757" "51890757" "subst" "9.37154E-5" "01804" "PKHD1_000458" "g.51890757G>A" "" "" "" "PKHD1(NM_138694.3):c.3851C>T (p.P1284L, p.(Pro1284Leu)), PKHD1(NM_138694.4):c.3851C>T (p.P1284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52025959G>A" "" "likely benign" "" "0000529083" "0" "50" "6" "51890847" "51890847" "subst" "0.000497099" "01804" "PKHD1_000459" "g.51890847G>C" "" "" "" "PKHD1(NM_138694.3):c.3761C>G (p.(Ala1254Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52026049G>C" "" "VUS" "" "0000529084" "0" "50" "6" "51890847" "51890847" "del" "0" "01804" "PKHD1_000460" "g.51890847del" "" "" "" "PKHD1(NM_138694.3):c.3766delC (p.(Gln1256ArgfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52026049del" "" "VUS" "" "0000529085" "0" "30" "6" "51890852" "51890852" "subst" "0.0378951" "01804" "PKHD1_000461" "g.51890852C>G" "" "" "" "PKHD1(NM_138694.3):c.3756G>C (p.(Leu1252=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52026054C>G" "" "likely benign" "" "0000529086" "0" "10" "6" "51890922" "51890922" "subst" "0.00264457" "01804" "PKHD1_000411" "g.51890922C>G" "" "" "" "PKHD1(NM_138694.3):c.3686G>C (p.(Trp1229Ser)), PKHD1(NM_138694.4):c.3686G>C (p.W1229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52026124C>G" "" "benign" "" "0000529087" "0" "30" "6" "51893107" "51893107" "subst" "0.00773686" "01804" "PKHD1_000006" "g.51893107T>C" "" "" "" "PKHD1(NM_138694.3):c.3407A>G (p.(Tyr1136Cys)), PKHD1(NM_138694.4):c.3407A>G (p.Y1136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52028309T>C" "" "likely benign" "" "0000529088" "0" "30" "6" "51907706" "51907706" "subst" "0.000244194" "01943" "PKHD1_000462" "g.51907706A>G" "" "" "" "PKHD1(NM_138694.3):c.3048T>C (p.N1016=, p.(Asn1016=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52042908A>G" "" "likely benign" "" "0000529089" "0" "30" "6" "51907720" "51907720" "subst" "0" "01804" "PKHD1_000463" "g.51907720C>A" "" "" "" "PKHD1(NM_138694.3):c.3034G>T (p.(Asp1012Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52042922C>A" "" "likely benign" "" "0000529091" "0" "30" "6" "51909841" "51909841" "subst" "4.06835E-5" "01804" "PKHD1_000465" "g.51909841G>A" "" "" "" "PKHD1(NM_138694.3):c.2638C>T (p.(Arg880Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52045043G>A" "" "likely benign" "" "0000529092" "0" "90" "6" "51913356" "51913356" "subst" "4.062E-5" "01943" "PKHD1_000221" "g.51913356G>A" "" "" "" "PKHD1(NM_138694.3):c.2341C>T (p.R781*, p.(Arg781*)), PKHD1(NM_138694.4):c.2341C>T (p.R781*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52048558G>A" "" "pathogenic" "" "0000529093" "0" "50" "6" "51914959" "51914959" "subst" "9.35362E-5" "02327" "PKHD1_000466" "g.51914959C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52050161C>T" "" "VUS" "" "0000529094" "0" "30" "6" "51915053" "51915053" "subst" "0" "01804" "PKHD1_000467" "g.51915053A>T" "" "" "" "PKHD1(NM_138694.3):c.2181T>A (p.(Asn727Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52050255A>T" "" "likely benign" "" "0000529095" "0" "30" "6" "51915066" "51915066" "subst" "0.00155082" "01943" "PKHD1_000468" "g.51915066C>A" "" "" "" "PKHD1(NM_138694.3):c.2168G>T (p.R723L, p.(Arg723Leu)), PKHD1(NM_138694.4):c.2168G>T (p.R723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52050268C>A" "" "likely benign" "" "0000529096" "0" "30" "6" "51915069" "51915069" "subst" "0" "01804" "PKHD1_000469" "g.51915069G>A" "" "" "" "PKHD1(NM_138694.3):c.2165C>T (p.(Ala722Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52050271G>A" "" "likely benign" "" "0000529097" "0" "30" "6" "51917940" "51917940" "subst" "4.06461E-6" "01943" "PKHD1_000470" "g.51917940G>A" "" "" "" "PKHD1(NM_138694.3):c.2074C>T (p.P692S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52053142G>A" "" "likely benign" "" "0000529098" "0" "30" "6" "51918009" "51918009" "subst" "6.9149E-5" "01943" "PKHD1_000471" "g.51918009G>A" "" "" "" "PKHD1(NM_138694.3):c.2005C>T (p.R669C, p.(Arg669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52053211G>A" "" "likely benign" "" "0000529099" "0" "30" "6" "51918819" "51918819" "subst" "0.00566303" "01804" "PKHD1_000472" "g.51918819C>A" "" "" "" "PKHD1(NM_138694.3):c.1964+17G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52054021C>A" "" "likely benign" "" "0000529100" "0" "10" "6" "51920485" "51920485" "subst" "0.0245067" "01804" "PKHD1_000417" "g.51920485G>A" "" "" "" "PKHD1(NM_138694.3):c.1736C>T (p.(Thr579Met)), PKHD1(NM_138694.4):c.1736C>T (p.T579M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52055687G>A" "" "benign" "" "0000529101" "0" "70" "6" "51923261" "51923261" "subst" "0" "01804" "PKHD1_000473" "g.51923261G>A" "" "" "" "PKHD1(NM_138694.3):c.1372C>T (p.(His458Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52058463G>A" "" "likely pathogenic" "" "0000529102" "0" "50" "6" "51923291" "51923291" "subst" "0.00158602" "01804" "PKHD1_000002" "g.51923291C>G" "" "" "" "PKHD1(NM_138694.3):c.1342G>C (p.(Gly448Arg)), PKHD1(NM_138694.4):c.1342G>C (p.G448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52058493C>G" "" "VUS" "" "0000529103" "0" "50" "6" "51923291" "51923291" "subst" "0.00158602" "02325" "PKHD1_000002" "g.51923291C>G" "" "" "" "PKHD1(NM_138694.3):c.1342G>C (p.(Gly448Arg)), PKHD1(NM_138694.4):c.1342G>C (p.G448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52058493C>G" "" "VUS" "" "0000529104" "0" "30" "6" "51923404" "51923404" "subst" "0.00294255" "01804" "PKHD1_000474" "g.51923404G>A" "" "" "" "PKHD1(NM_138694.3):c.1234-5C>T (p.?), PKHD1(NM_138694.4):c.1234-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52058606G>A" "" "likely benign" "" "0000529105" "0" "90" "6" "51924725" "51924725" "subst" "0" "02327" "PKHD1_000265" "g.51924725C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52059927C>T" "" "pathogenic" "" "0000529106" "0" "30" "6" "51927467" "51927467" "subst" "6.91141E-5" "01943" "PKHD1_000475" "g.51927467C>T" "" "" "" "PKHD1(NM_138694.3):c.977-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52062669C>T" "" "likely benign" "" "0000529107" "0" "30" "6" "51930807" "51930807" "subst" "4.87547E-5" "01804" "PKHD1_000423" "g.51930807A>G" "" "" "" "PKHD1(NM_138694.3):c.847T>C (p.F283L, p.(Phe283Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52066009A>G" "" "likely benign" "" "0000529109" "0" "10" "6" "51930900" "51930900" "dup" "0" "01804" "PKHD1_000425" "g.51930900dup" "" "" "" "PKHD1(NM_138694.3):c.779-12dup (p.(=)), PKHD1(NM_138694.4):c.779-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52066102dup" "" "benign" "" "0000529113" "0" "30" "6" "51935838" "51935838" "subst" "0.000244133" "01943" "PKHD1_000477" "g.51935838C>T" "" "" "" "PKHD1(NM_138694.3):c.633G>A (p.G211=, p.(Gly211=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52071040C>T" "" "likely benign" "" "0000529114" "0" "30" "6" "51941107" "51941107" "subst" "4.06448E-6" "01804" "PKHD1_000478" "g.51941107C>T" "" "" "" "PKHD1(NM_138694.3):c.415G>A (p.(Val139Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52076309C>T" "" "likely benign" "" "0000529115" "0" "30" "6" "51944763" "51944763" "subst" "0.000910007" "01804" "PKHD1_000479" "g.51944763C>T" "" "" "" "PKHD1(NM_138694.3):c.325G>A (p.(Ala109Thr)), PKHD1(NM_138694.4):c.325G>A (p.A109T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52079965C>T" "" "likely benign" "" "0000529116" "0" "90" "6" "51947999" "51947999" "subst" "0.000447027" "01804" "PKHD1_000018" "g.51947999G>A" "" "" "" "PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52083201G>A" "" "pathogenic" "" "0000529117" "0" "70" "6" "51947999" "51947999" "subst" "0.000447027" "02327" "PKHD1_000018" "g.51947999G>A" "" "" "" "PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000529118" "0" "50" "6" "51948051" "51948051" "subst" "3.65776E-5" "02325" "PKHD1_000480" "g.51948051G>A" "" "" "" "PKHD1(NM_138694.4):c.55C>T (p.R19C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52083253G>A" "" "VUS" "" "0000610379" "0" "30" "6" "51491842" "51491842" "subst" "0.00118294" "01804" "PKHD1_000481" "g.51491842C>T" "" "" "" "PKHD1(NM_138694.3):c.11738G>A (p.(Arg3913His)), PKHD1(NM_138694.4):c.11738G>A (p.R3913H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51627044C>T" "" "likely benign" "" "0000610380" "0" "30" "6" "51637561" "51637561" "subst" "0.0034217" "01943" "PKHD1_000089" "g.51637561T>C" "" "" "" "PKHD1(NM_138694.3):c.8581A>G (p.S2861G, p.(Ser2861Gly)), PKHD1(NM_138694.4):c.8581A>G (p.S2861G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51772763T>C" "" "likely benign" "" "0000610381" "0" "30" "6" "51656129" "51656129" "subst" "0.00267941" "02325" "PKHD1_000395" "g.51656129C>G" "" "" "" "PKHD1(NM_138694.3):c.8345G>C (p.G2782A, p.(Gly2782Ala)), PKHD1(NM_138694.4):c.8345G>C (p.G2782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51791331C>G" "" "likely benign" "" "0000610382" "0" "50" "6" "51695714" "51695714" "subst" "0" "01804" "PKHD1_000483" "g.51695714C>G" "" "" "" "PKHD1(NM_138694.3):c.8247G>C (p.(Trp2749Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51830916C>G" "" "VUS" "" "0000610383" "0" "30" "6" "51712565" "51712565" "subst" "0.000138318" "01943" "PKHD1_000484" "g.51712565A>C" "" "" "" "PKHD1(NM_138694.3):c.8107+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51847767A>C" "" "likely benign" "" "0000610384" "0" "50" "6" "51751928" "51751928" "subst" "0" "01943" "PKHD1_000485" "g.51751928T>C" "" "" "" "PKHD1(NM_138694.3):c.7109+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51887130T>C" "" "VUS" "" "0000610385" "0" "50" "6" "51798937" "51798937" "subst" "0" "01943" "PKHD1_000486" "g.51798937G>A" "" "" "" "PKHD1(NM_138694.3):c.6092C>T (p.A2031V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51934139G>A" "" "VUS" "" "0000610386" "0" "50" "6" "51824808" "51824808" "subst" "0.000729421" "01943" "PKHD1_000164" "g.51824808T>A" "" "" "" "PKHD1(NM_138694.3):c.5768A>T (p.Q1923L, p.(Gln1923Leu)), PKHD1(NM_138694.4):c.5768A>T (p.Q1923L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960010T>A" "" "VUS" "" "0000610388" "0" "30" "6" "51908518" "51908518" "subst" "0.000805009" "01804" "PKHD1_000487" "g.51908518C>T" "" "" "" "PKHD1(NM_138694.3):c.2726G>A (p.(Arg909Gln)), PKHD1(NM_138694.4):c.2726G>A (p.R909Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52043720C>T" "" "likely benign" "" "0000621718" "0" "30" "6" "51523967" "51523967" "subst" "3.25693E-5" "01943" "PKHD1_000482" "g.51523967T>C" "" "" "" "PKHD1(NM_138694.3):c.10957A>G (p.M3653V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51659169T>C" "" "likely benign" "" "0000630811" "0" "70" "6" "51889738" "51889738" "subst" "0.000158417" "02473" "PKHD1_000163" "g.51889738G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.52024940G>A" "" "pathogenic (recessive)" "" "0000630812" "0" "70" "6" "51613044" "51613044" "subst" "0" "02473" "PKHD1_000097" "g.51613044G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51748246G>A" "" "pathogenic (recessive)" "" "0000630813" "3" "70" "6" "51947999" "51947999" "subst" "0.000447027" "02473" "PKHD1_000018" "g.51947999G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0000630814" "3" "70" "6" "51941116" "51941116" "subst" "0" "02473" "PKHD1_000488" "g.51941116T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.52076318T>C" "" "pathogenic (recessive)" "" "0000651995" "1" "50" "6" "51483243" "51483243" "subst" "0" "03575" "PKHD1_000489" "g.51483243G>T" "69/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "69 heterozygous, no homozygous; {DB:CLININrs41273718}" "Germline" "" "rs41273718" "0" "" "" "g.51618445G>T" "" "VUS" "" "0000651996" "1" "10" "6" "51484226" "51484226" "subst" "0.0143604" "03575" "PKHD1_000380" "g.51484226C>T" "104/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "104 heterozygous; {DB:CLININrs34548196}" "Germline" "" "rs34548196" "0" "" "" "g.51619428C>T" "" "benign" "" "0000651997" "1" "30" "6" "51524409" "51524409" "subst" "0.006812" "03575" "PKHD1_000385" "g.51524409G>T" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs139014478}" "Germline" "" "rs139014478" "0" "" "" "g.51659611G>T" "" "likely benign" "" "0000651998" "1" "50" "6" "51612626" "51612626" "subst" "0.0016469" "03575" "PKHD1_000007" "g.51612626A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs146519878}" "Germline" "" "rs146519878" "0" "" "" "g.51747828A>G" "" "VUS" "" "0000651999" "1" "50" "6" "51612785" "51612785" "subst" "0.000187152" "03575" "PKHD1_000490" "g.51612785G>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141081295}" "Germline" "" "rs141081295" "0" "" "" "g.51747987G>C" "" "VUS" "" "0000652000" "1" "30" "6" "51637536" "51637536" "subst" "0.00920578" "03575" "PKHD1_000081" "g.51637536G>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs142522748}" "Germline" "" "rs142522748" "0" "" "" "g.51772738G>T" "" "likely benign" "" "0000652001" "1" "30" "6" "51732618" "51732618" "subst" "0.0108921" "03575" "PKHD1_000491" "g.51732618C>T" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs141811489}" "Germline" "" "rs141811489" "0" "" "" "g.51867820C>T" "" "likely benign" "" "0000652002" "1" "50" "6" "51735411" "51735411" "subst" "3.25103E-5" "03575" "PKHD1_000492" "g.51735411A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201173272}" "Germline" "" "rs201173272" "0" "" "" "g.51870613A>C" "" "VUS" "" "0000652003" "1" "50" "6" "51889474" "51889474" "subst" "0.00075994" "03575" "PKHD1_000312" "g.51889474C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs141103838}" "Germline" "" "rs141103838" "0" "" "" "g.52024676C>T" "" "VUS" "" "0000652004" "1" "50" "6" "51889738" "51889738" "subst" "0.000158417" "03575" "PKHD1_000163" "g.51889738G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs200391019}" "Germline" "" "rs200391019" "0" "" "" "g.52024940G>A" "" "VUS" "" "0000652005" "1" "30" "6" "51893107" "51893107" "subst" "0.00773686" "03575" "PKHD1_000006" "g.51893107T>C" "11/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs41273726}" "Germline" "" "rs41273726" "0" "" "" "g.52028309T>C" "" "likely benign" "" "0000652006" "1" "10" "6" "51920485" "51920485" "subst" "0.0245067" "03575" "PKHD1_000417" "g.51920485G>A" "29/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs45500692}" "Germline" "" "rs45500692" "0" "" "" "g.52055687G>A" "" "benign" "" "0000652007" "1" "10" "6" "51921514" "51921514" "subst" "0.00154668" "03575" "PKHD1_000494" "g.51921514G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141384205}" "Germline" "" "rs141384205" "0" "" "" "g.52056716G>A" "" "benign" "" "0000652008" "1" "90" "6" "51921687" "51921687" "subst" "0" "03575" "PKHD1_000495" "g.51921687C>T" "1/2758 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398124476}" "Germline" "" "rs398124476" "0" "" "" "g.52056889C>T" "" "pathogenic" "" "0000652009" "1" "70" "6" "51948021" "51948021" "subst" "4.06309E-6" "03575" "PKHD1_000496" "g.51948021C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398124498}" "Germline" "" "rs398124498" "0" "" "" "g.52083223C>A" "" "likely pathogenic" "" "0000653067" "1" "50" "6" "51612695" "51612695" "subst" "4.06521E-6" "03575" "PKHD1_000223" "g.51612695C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs146649803}" "Germline" "" "rs146649803" "0" "" "" "g.51747897C>A" "" "VUS" "" "0000653171" "1" "50" "6" "51774264" "51774264" "subst" "3.25972E-5" "03575" "PKHD1_000493" "g.51774264G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs368263958}" "Germline" "" "rs368263958" "0" "" "" "g.51909466G>T" "" "VUS" "" "0000655606" "0" "30" "6" "51613039" "51613039" "subst" "0" "01943" "PKHD1_000497" "g.51613039T>C" "" "" "" "PKHD1(NM_138694.3):c.9375A>G (p.S3125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51748241T>C" "" "likely benign" "" "0000655607" "0" "30" "6" "51768795" "51768795" "subst" "0.00129577" "02325" "PKHD1_000009" "g.51768795C>T" "" "" "" "PKHD1(NM_138694.3):c.6854G>A (p.G2285E, p.(Gly2285Glu)), PKHD1(NM_138694.4):c.6854G>A (p.G2285E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51903997C>T" "" "likely benign" "" "0000655608" "0" "90" "6" "51890278" "51890278" "subst" "0" "01943" "PKHD1_000266" "g.51890278G>A" "" "" "" "PKHD1(NM_138694.3):c.4330C>T (p.Q1444*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52025480G>A" "" "pathogenic" "" "0000655609" "0" "30" "6" "51897889" "51897889" "subst" "0.000471326" "02326" "PKHD1_000498" "g.51897889T>C" "" "" "" "PKHD1(NM_138694.3):c.3303A>G (p.(Thr1101=)), PKHD1(NM_138694.4):c.3303A>G (p.T1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52033091T>C" "" "likely benign" "" "0000655610" "0" "30" "6" "51907820" "51907820" "subst" "0.000719934" "01943" "PKHD1_000499" "g.51907820C>T" "" "" "" "PKHD1(NM_138694.3):c.2934G>A (p.Q978=), PKHD1(NM_138694.4):c.2934G>A (p.Q978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52043022C>T" "" "likely benign" "" "0000667209" "1" "90" "6" "51613044" "51613044" "subst" "0" "03601" "PKHD1_000097" "g.51613044G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.51748246G>A" "" "pathogenic (recessive)" "ACMG" "0000667210" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667211" "1" "90" "6" "51889738" "51889738" "subst" "0.000158417" "03601" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs200391019" "0" "" "" "g.52024940G>A" "" "pathogenic (recessive)" "ACMG" "0000667212" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667214" "1" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667215" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667216" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667217" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667220" "3" "90" "6" "51941116" "51941116" "subst" "0" "03601" "PKHD1_000488" "g.51941116T>C" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.52076318T>C" "" "pathogenic (recessive)" "ACMG" "0000667223" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667224" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667225" "1" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667226" "1" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667227" "1" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667232" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667237" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "Fig3 406G>A (Thr136Ala)" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667244" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667245" "1" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667246" "2" "90" "6" "51889738" "51889738" "subst" "0.000158417" "03601" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs200391019" "0" "" "" "g.52024940G>A" "" "pathogenic (recessive)" "ACMG" "0000667247" "2" "90" "6" "51947999" "51947999" "subst" "0.000447027" "03601" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs137852944" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "ACMG" "0000667248" "2" "90" "6" "51941116" "51941116" "subst" "0" "03601" "PKHD1_000488" "g.51941116T>C" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.52076318T>C" "" "pathogenic (recessive)" "ACMG" "0000667249" "2" "90" "6" "51941116" "51941116" "subst" "0" "03601" "PKHD1_000488" "g.51941116T>C" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.52076318T>C" "" "pathogenic (recessive)" "ACMG" "0000667250" "2" "90" "6" "51889738" "51889738" "subst" "0.000158417" "03601" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs200391019" "0" "" "" "g.52024940G>A" "" "pathogenic (recessive)" "ACMG" "0000667251" "2" "90" "6" "51889738" "51889738" "subst" "0.000158417" "03601" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "rs200391019" "0" "" "" "g.52024940G>A" "" "pathogenic (recessive)" "ACMG" "0000667252" "2" "90" "6" "51941116" "51941116" "subst" "0" "03601" "PKHD1_000488" "g.51941116T>C" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "" "" "Germline" "" "" "0" "" "" "g.52076318T>C" "" "pathogenic (recessive)" "ACMG" "0000669922" "3" "10" "6" "51484226" "51484226" "subst" "0.0143604" "03575" "PKHD1_000380" "g.51484226C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34548196}" "Germline" "" "rs34548196" "0" "" "" "g.51619428C>T" "" "benign" "" "0000677799" "0" "90" "6" "51524705" "51524705" "subst" "8.161E-6" "02326" "PKHD1_000125" "g.51524705G>A" "" "" "" "PKHD1(NM_138694.3):c.10219C>T (p.(Gln3407*)), PKHD1(NM_138694.4):c.10219C>T (p.Q3407*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677800" "0" "90" "6" "51609214" "51609214" "del" "0" "02327" "PKHD1_000500" "g.51609214del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677801" "0" "30" "6" "51612626" "51612626" "subst" "0.0016469" "02326" "PKHD1_000007" "g.51612626A>G" "" "" "" "PKHD1(NM_138694.3):c.9788T>C (p.V3263A, p.(Val3263Ala)), PKHD1(NM_138694.4):c.9788T>C (p.V3263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677802" "0" "90" "6" "51695657" "51695657" "subst" "0" "02326" "PKHD1_000276" "g.51695657A>G" "" "" "" "PKHD1(NM_138694.4):c.8302+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677803" "0" "50" "6" "51701255" "51701255" "subst" "8.53749E-5" "02325" "PKHD1_000501" "g.51701255C>T" "" "" "" "PKHD1(NM_138694.4):c.8120G>A (p.G2707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677804" "0" "30" "6" "51768795" "51768795" "subst" "0.00129577" "01943" "PKHD1_000009" "g.51768795C>T" "" "" "" "PKHD1(NM_138694.3):c.6854G>A (p.G2285E, p.(Gly2285Glu)), PKHD1(NM_138694.4):c.6854G>A (p.G2285E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677805" "0" "50" "6" "51824808" "51824808" "subst" "0.000729421" "02325" "PKHD1_000164" "g.51824808T>A" "" "" "" "PKHD1(NM_138694.3):c.5768A>T (p.Q1923L, p.(Gln1923Leu)), PKHD1(NM_138694.4):c.5768A>T (p.Q1923L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677806" "0" "30" "6" "51889723" "51889723" "subst" "4.46824E-5" "01943" "PKHD1_000502" "g.51889723T>C" "" "" "" "PKHD1(NM_138694.3):c.4885A>G (p.T1629A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677807" "0" "30" "6" "51890757" "51890757" "subst" "9.37154E-5" "01943" "PKHD1_000458" "g.51890757G>A" "" "" "" "PKHD1(NM_138694.3):c.3851C>T (p.P1284L, p.(Pro1284Leu)), PKHD1(NM_138694.4):c.3851C>T (p.P1284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677808" "0" "70" "6" "51929809" "51929809" "subst" "4.07213E-6" "02327" "PKHD1_000128" "g.51929809A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677809" "0" "90" "6" "51947999" "51947999" "subst" "0.000447027" "02326" "PKHD1_000018" "g.51947999G>A" "" "" "" "PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689747" "0" "30" "6" "51512889" "51512889" "subst" "0.00143191" "02326" "PKHD1_000503" "g.51512889G>A" "" "" "" "PKHD1(NM_138694.3):c.11338C>T (p.(Pro3780Ser)), PKHD1(NM_138694.4):c.11338C>T (p.P3780S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689748" "0" "50" "6" "51612752" "51612752" "subst" "0.000394521" "01943" "PKHD1_000504" "g.51612752G>A" "" "" "" "PKHD1(NM_138694.3):c.9662C>T (p.P3221L), PKHD1(NM_138694.4):c.9662C>T (p.(Pro3221Leu), p.P3221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689749" "0" "30" "6" "51613012" "51613012" "subst" "0.000427573" "01943" "PKHD1_000505" "g.51613012C>T" "" "" "" "PKHD1(NM_138694.3):c.9402G>A (p.K3134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689750" "0" "30" "6" "51712773" "51712773" "subst" "0.00104187" "01943" "PKHD1_000506" "g.51712773A>C" "" "" "" "PKHD1(NM_138694.3):c.7912-5T>G, PKHD1(NM_138694.4):c.7912-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689751" "0" "30" "6" "51732781" "51732781" "subst" "0" "01943" "PKHD1_000507" "g.51732781T>A" "" "" "" "PKHD1(NM_138694.3):c.7613A>T (p.H2538L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689752" "0" "30" "6" "51735306" "51735306" "subst" "0.00171886" "02326" "PKHD1_000508" "g.51735306T>A" "" "" "" "PKHD1(NM_138694.4):c.7482A>T (p.G2494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689753" "0" "30" "6" "51768795" "51768795" "subst" "0.00129577" "02326" "PKHD1_000009" "g.51768795C>T" "" "" "" "PKHD1(NM_138694.3):c.6854G>A (p.G2285E, p.(Gly2285Glu)), PKHD1(NM_138694.4):c.6854G>A (p.G2285E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689754" "0" "50" "6" "51889474" "51889474" "subst" "0.00075994" "01943" "PKHD1_000312" "g.51889474C>T" "" "" "" "PKHD1(NM_138694.3):c.5134G>A (p.G1712R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689755" "0" "30" "6" "51890825" "51890825" "subst" "0.000562352" "02326" "PKHD1_000410" "g.51890825G>A" "" "" "" "PKHD1(NM_138694.3):c.3783C>T (p.G1261=, p.(Gly1261=)), PKHD1(NM_138694.4):c.3783C>T (p.G1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689756" "0" "30" "6" "51907901" "51907901" "subst" "0.00341519" "01943" "PKHD1_000509" "g.51907901G>A" "" "" "" "PKHD1(NM_138694.3):c.2853C>T (p.T951=, p.(Thr951=)), PKHD1(NM_138694.4):c.2853C>T (p.T951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698253" "21" "90" "6" "51890127" "51890127" "del" "0" "03828" "PKHD1_000510" "g.51890127del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000698254" "11" "70" "6" "51890487" "51890487" "subst" "0" "03828" "PKHD1_000511" "g.51890487C>A" "" "" "teszsz" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000698281" "11" "70" "6" "51890287" "51890287" "del" "0" "03828" "PKHD1_000512" "g.51890287del" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000698282" "11" "50" "6" "51890418" "51890418" "subst" "1.62518E-5" "03828" "PKHD1_000513" "g.51890418G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000698283" "21" "70" "6" "51695713" "51695713" "subst" "0" "03828" "PKHD1_000514" "g.51695713C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000711419" "0" "30" "6" "51944754" "51944754" "subst" "0.000349352" "03779" "PKHD1_000149" "g.51944754C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs149841071" "0" "" "" "" "" "likely benign" "" "0000720970" "0" "50" "6" "51484077" "51484077" "subst" "0.000350231" "01943" "PKHD1_000121" "g.51484077G>C" "" "" "" "PKHD1(NM_138694.3):c.12027C>G (p.Y4009*), PKHD1(NM_138694.4):c.12027C>G (p.Y4009*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720971" "0" "30" "6" "51524065" "51524065" "subst" "0.000236051" "01943" "PKHD1_000442" "g.51524065C>T" "" "" "" "PKHD1(NM_138694.3):c.10859G>A (p.R3620H, p.(Arg3620His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720972" "0" "50" "6" "51524305" "51524305" "subst" "6.93974E-5" "01943" "PKHD1_000428" "g.51524305T>C" "" "" "" "PKHD1(NM_138694.3):c.10619A>G (p.D3540G), PKHD1(NM_138694.4):c.10619A>G (p.(Asp3540Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720973" "0" "50" "6" "51609303" "51609303" "subst" "0.000329333" "02326" "PKHD1_000069" "g.51609303A>G" "" "" "" "PKHD1(NM_138694.4):c.10036T>C (p.(Cys3346Arg), p.C3346R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720974" "0" "30" "6" "51612922" "51612922" "subst" "0.0017835" "02326" "PKHD1_000515" "g.51612922G>A" "" "" "" "PKHD1(NM_138694.3):c.9492C>T (p.(Ser3164=)), PKHD1(NM_138694.4):c.9492C>T (p.S3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720975" "0" "30" "6" "51613051" "51613051" "subst" "0.000260431" "02326" "PKHD1_000516" "g.51613051A>G" "" "" "" "PKHD1(NM_138694.3):c.9363T>C (p.(Asn3121=)), PKHD1(NM_138694.4):c.9363T>C (p.N3121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720976" "0" "30" "6" "51637561" "51637561" "subst" "0.0034217" "02326" "PKHD1_000089" "g.51637561T>C" "" "" "" "PKHD1(NM_138694.3):c.8581A>G (p.S2861G, p.(Ser2861Gly)), PKHD1(NM_138694.4):c.8581A>G (p.S2861G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720977" "0" "70" "6" "51640642" "51640642" "subst" "2.45288E-5" "02327" "PKHD1_000205" "g.51640642G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720978" "0" "30" "6" "51656129" "51656129" "subst" "0.00267941" "02326" "PKHD1_000395" "g.51656129C>G" "" "" "" "PKHD1(NM_138694.3):c.8345G>C (p.G2782A, p.(Gly2782Ala)), PKHD1(NM_138694.4):c.8345G>C (p.G2782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720979" "0" "70" "6" "51695657" "51695657" "subst" "0" "02329" "PKHD1_000276" "g.51695657A>G" "" "" "" "PKHD1(NM_138694.4):c.8302+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720980" "0" "30" "6" "51712773" "51712773" "subst" "0.00104187" "02326" "PKHD1_000506" "g.51712773A>C" "" "" "" "PKHD1(NM_138694.3):c.7912-5T>G, PKHD1(NM_138694.4):c.7912-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720981" "0" "30" "6" "51720894" "51720895" "dup" "0" "02326" "PKHD1_000517" "g.51720894_51720895dup" "" "" "" "PKHD1(NM_138694.3):c.7734-21_7734-20dup (p.(=)), PKHD1(NM_138694.4):c.7734-21_7734-20dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720982" "0" "30" "6" "51732719" "51732719" "subst" "0.00105014" "02326" "PKHD1_000397" "g.51732719C>G" "" "" "" "PKHD1(NM_138694.3):c.7675G>C (p.V2559L, p.(Val2559Leu)), PKHD1(NM_138694.4):c.7675G>C (p.V2559L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720983" "0" "50" "6" "51747977" "51747977" "subst" "0.000528344" "02325" "PKHD1_000092" "g.51747977A>C" "" "" "" "PKHD1(NM_138694.3):c.7264T>G (p.(Cys2422Gly)), PKHD1(NM_138694.4):c.7264T>G (p.C2422G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720984" "0" "50" "6" "51751973" "51751973" "subst" "0.000613313" "02325" "PKHD1_000518" "g.51751973G>A" "" "" "" "PKHD1(NM_138694.4):c.7067C>T (p.(Pro2356Leu), p.P2356L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720985" "0" "50" "6" "51875127" "51875127" "subst" "0.000166664" "02325" "PKHD1_000519" "g.51875127G>A" "" "" "" "PKHD1(NM_138694.3):c.5731C>T (p.(Arg1911Cys)), PKHD1(NM_138694.4):c.5731C>T (p.R1911C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720986" "0" "30" "6" "51882330" "51882330" "subst" "0.000911436" "02326" "PKHD1_000520" "g.51882330C>T" "" "" "" "PKHD1(NM_138694.3):c.5478G>A (p.(Ala1826=)), PKHD1(NM_138694.4):c.5478G>A (p.A1826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720987" "0" "30" "6" "51889688" "51889688" "subst" "0.00220221" "02326" "PKHD1_000407" "g.51889688T>C" "" "" "" "PKHD1(NM_138694.3):c.4920A>G (p.V1640=, p.(Val1640=)), PKHD1(NM_138694.4):c.4920A>G (p.V1640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720988" "0" "50" "6" "51889738" "51889738" "subst" "0.000158417" "01943" "PKHD1_000163" "g.51889738G>A" "" "" "" "PKHD1(NM_138694.3):c.4870C>T (p.R1624W), PKHD1(NM_138694.4):c.4870C>T (p.R1624W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720989" "0" "50" "6" "51890037" "51890037" "subst" "2.03202E-5" "02325" "PKHD1_000521" "g.51890037A>C" "" "" "" "PKHD1(NM_138694.4):c.4571T>G (p.L1524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720990" "0" "90" "6" "51890351" "51890352" "del" "0" "02326" "PKHD1_000140" "g.51890351_51890352del" "" "" "" "PKHD1(NM_138694.4):c.4256_4257delGG (p.R1419Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720991" "0" "30" "6" "51892977" "51892977" "subst" "0.00130378" "02326" "PKHD1_000522" "g.51892977A>G" "" "" "" "PKHD1(NM_138694.3):c.3537T>C (p.(Asn1179=)), PKHD1(NM_138694.4):c.3537T>C (p.N1179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720992" "0" "30" "6" "51897951" "51897951" "subst" "0.000170786" "02326" "PKHD1_000523" "g.51897951G>A" "" "" "" "PKHD1(NM_138694.3):c.3241C>T (p.(Arg1081Cys)), PKHD1(NM_138694.4):c.3241C>T (p.R1081C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720993" "0" "90" "6" "51914970" "51914970" "subst" "0" "02326" "PKHD1_000183" "g.51914970G>A" "" "" "" "PKHD1(NM_138694.4):c.2264C>T (p.P755L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720994" "0" "30" "6" "51917987" "51917987" "subst" "0.0017851" "02326" "PKHD1_000003" "g.51917987G>C" "" "" "" "PKHD1(NM_138694.3):c.2027C>G (p.(Pro676Arg)), PKHD1(NM_138694.4):c.2027C>G (p.P676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720995" "0" "70" "6" "51923224" "51923224" "subst" "0" "02327" "PKHD1_000233" "g.51923224C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720996" "0" "30" "6" "51923408" "51923408" "subst" "0.000360756" "02326" "PKHD1_000524" "g.51923408A>G" "" "" "" "PKHD1(NM_138694.3):c.1234-9T>C (p.(=)), PKHD1(NM_138694.4):c.1234-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720997" "0" "10" "6" "51923409" "51923409" "subst" "0.147657" "02327" "PKHD1_000525" "g.51923409A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720998" "0" "30" "6" "51924858" "51924858" "subst" "0.000162905" "02326" "PKHD1_000526" "g.51924858G>C" "" "" "" "PKHD1(NM_138694.4):c.1119-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720999" "0" "90" "6" "51947999" "51947999" "subst" "0.000447027" "02329" "PKHD1_000018" "g.51947999G>A" "" "" "" "PKHD1(NM_138694.3):c.107C>T (p.(Thr36Met)), PKHD1(NM_138694.4):c.107C>T (p.T36M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000736814" "0" "70" "6" "51882382" "51882382" "subst" "0" "03779" "PKHD1_000527" "g.51882382C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000802628" "0" "30" "6" "51523794" "51523794" "subst" "0.000288836" "01943" "PKHD1_000531" "g.51523794G>A" "" "" "" "PKHD1(NM_138694.3):c.11130C>T (p.I3710=, p.(Ile3710=)), PKHD1(NM_138694.4):c.11130C>T (p.I3710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802629" "0" "30" "6" "51613199" "51613199" "subst" "0.00213194" "01943" "PKHD1_000230" "g.51613199G>A" "" "" "" "PKHD1(NM_138694.3):c.9215C>T (p.A3072V), PKHD1(NM_138694.4):c.9215C>T (p.A3072V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802630" "0" "30" "6" "51613199" "51613199" "subst" "0.00213194" "02326" "PKHD1_000230" "g.51613199G>A" "" "" "" "PKHD1(NM_138694.3):c.9215C>T (p.A3072V), PKHD1(NM_138694.4):c.9215C>T (p.A3072V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802631" "0" "30" "6" "51720792" "51720792" "subst" "0.000645911" "01943" "PKHD1_000532" "g.51720792G>A" "" "" "" "PKHD1(NM_138694.3):c.7810C>T (p.R2604C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802632" "0" "30" "6" "51777229" "51777229" "subst" "4.06683E-6" "01943" "PKHD1_000533" "g.51777229C>T" "" "" "" "PKHD1(NM_138694.3):c.6267G>A (p.P2089=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802633" "0" "50" "6" "51882310" "51882310" "subst" "0.000170814" "02326" "PKHD1_000080" "g.51882310G>A" "" "" "" "PKHD1(NM_138694.3):c.5498C>T (p.(Ser1833Leu)), PKHD1(NM_138694.4):c.5498C>T (p.S1833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802634" "0" "50" "6" "51890542" "51890542" "subst" "5.69032E-5" "01943" "PKHD1_000534" "g.51890542G>A" "" "" "" "PKHD1(NM_138694.3):c.4066C>T (p.L1356F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802635" "0" "30" "6" "51890570" "51890570" "subst" "9.76181E-5" "02326" "PKHD1_000535" "g.51890570G>A" "" "" "" "PKHD1(NM_138694.3):c.4038C>T (p.(Asn1346=)), PKHD1(NM_138694.4):c.4038C>T (p.N1346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802636" "0" "30" "6" "51890773" "51890773" "subst" "0.000640038" "01943" "PKHD1_000536" "g.51890773C>T" "" "" "" "PKHD1(NM_138694.3):c.3835G>A (p.A1279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802637" "0" "30" "6" "51907901" "51907901" "subst" "0.00341519" "02326" "PKHD1_000509" "g.51907901G>A" "" "" "" "PKHD1(NM_138694.3):c.2853C>T (p.T951=, p.(Thr951=)), PKHD1(NM_138694.4):c.2853C>T (p.T951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802638" "0" "50" "6" "51944754" "51944754" "subst" "0.000349352" "02326" "PKHD1_000149" "g.51944754C>T" "" "" "" "PKHD1(NM_138694.3):c.334G>A (p.(Gly112Arg)), PKHD1(NM_138694.4):c.334G>A (p.G112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000827837" "0" "50" "6" "51712716" "51712716" "subst" "0" "00000" "PKHD1_000537" "g.51712716T>C" "" "{PMID:Zacchia 2021:33964006}" "" "PKHD1 c.7964A>G, p.H2655R" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.51847918T>C" "" "VUS" "ACMG" "0000827894" "0" "90" "6" "51935203" "51935203" "subst" "8.13484E-6" "00000" "PKHD1_000538" "g.51935203C>T" "" "{PMID:Zacchia 2021:33964006}" "" "PKHD1 C.707+1G>A, spl" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.52070405C>T" "" "pathogenic" "ACMG" "0000838400" "3" "90" "6" "51618610" "51618610" "subst" "0" "00006" "PKHD1_000539" "g.51618610G>T" "" "{PMID:Chen 2019:30617278}" "" "" "variant creates branch point, activating a pseudo-exon" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000838422" "0" "50" "6" "51613287" "51613287" "subst" "0" "03779" "PKHD1_000540" "g.51613287C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000840818" "21" "70" "6" "51897828" "51897828" "subst" "0" "00006" "PKHD1_000211" "g.51897828C>T" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840819" "11" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840820" "21" "70" "6" "51935807" "51935807" "subst" "0.000101771" "00006" "PKHD1_000012" "g.51935807T>C" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840821" "21" "70" "6" "51889738" "51889738" "subst" "0.000158417" "00006" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840822" "11" "90" "6" "51824681" "51824681" "dup" "0" "00006" "PKHD1_000027" "g.51824681dup" "" "{PMID:Onuchic 2002:11898128}" "" "5895_5896insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840823" "21" "70" "6" "51612999" "51612999" "subst" "0.00417026" "00006" "PKHD1_000008" "g.51612999C>A" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840824" "21" "90" "6" "51824681" "51824681" "dup" "0" "00006" "PKHD1_000027" "g.51824681dup" "" "{PMID:Onuchic 2002:11898128}" "" "5895_5896insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840825" "11" "70" "6" "51618079" "51618079" "subst" "5.6936E-5" "00006" "PKHD1_000019" "g.51618079A>G" "" "{PMID:Onuchic 2002:11898128}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840826" "21" "90" "6" "51824681" "51824681" "dup" "0" "00006" "PKHD1_000027" "g.51824681dup" "" "{PMID:Onuchic 2002:11898128}" "" "5895_5896insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840827" "2" "70" "6" "51824751" "51824751" "subst" "0" "00006" "PKHD1_000071" "g.51824751T>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840828" "2" "70" "6" "51893147" "51893147" "subst" "8.12684E-6" "00006" "PKHD1_000031" "g.51893147C>T" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840829" "2" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840830" "2" "70" "6" "51637554" "51637554" "subst" "4.07269E-6" "00006" "PKHD1_000106" "g.51637554T>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840831" "2" "70" "6" "51637554" "51637554" "subst" "4.07269E-6" "00006" "PKHD1_000106" "g.51637554T>C" "" "{PMID:Furu 2003:12874454}" "" "Y2863G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840832" "2" "90" "6" "51890846" "51890847" "delins" "0" "00006" "PKHD1_000224" "g.51890846_51890847delinsC" "" "{PMID:Furu 2003:12874454}" "" "3761_3762delCCinsG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840833" "2" "90" "6" "51735311" "51735311" "subst" "0" "00006" "PKHD1_000101" "g.51735311G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840834" "2" "90" "6" "51712669" "51712669" "subst" "3.25301E-5" "00006" "PKHD1_000015" "g.51712669G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840835" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840836" "2" "90" "6" "51618120" "51618120" "dup" "0" "00006" "PKHD1_000225" "g.51618120dup" "" "{PMID:Furu 2003:12874454}" "" "8829_8830insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840837" "2" "90" "6" "51908434" "51908434" "subst" "0" "00006" "PKHD1_000114" "g.51908434C>T" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840838" "2" "90" "6" "51609262" "51609262" "del" "0" "00006" "PKHD1_000010" "g.51609262del" "" "{PMID:Furu 2003:12874454}" "" "10075delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840839" "2" "90" "6" "51524285" "51524285" "dup" "0" "00006" "PKHD1_000116" "g.51524285dup" "" "{PMID:Furu 2003:12874454}" "" "10637_10638insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840840" "2" "70" "6" "51747977" "51747977" "subst" "0.000528344" "00006" "PKHD1_000092" "g.51747977A>C" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840841" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000840842" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000840843" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000840844" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000840845" "1" "90" "6" "51897886" "51897886" "del" "0" "00006" "PKHD1_000011" "g.51897886del" "" "{PMID:Furu 2003:12874454}" "" "3306delT" "" "Germline" "" "" "0" "" "" "g.52033088del" "" "pathogenic" "" "0000840846" "1" "90" "6" "51890846" "51890847" "delins" "0" "00006" "PKHD1_000224" "g.51890846_51890847delinsC" "" "{PMID:Furu 2003:12874454}" "" "3761_3762delCCinsG" "" "Germline" "" "" "0" "" "" "g.52026048_52026049delinsC" "" "pathogenic" "" "0000840847" "1" "90" "6" "51618120" "51618120" "dup" "0" "00006" "PKHD1_000225" "g.51618120dup" "" "{PMID:Furu 2003:12874454}" "" "8829_8830insC" "" "Germline" "" "" "0" "" "" "g.51753322dup" "" "pathogenic" "" "0000840848" "1" "70" "6" "51612884" "51612884" "subst" "5.29299E-5" "00006" "PKHD1_000076" "g.51612884A>G" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748086A>G" "" "likely pathogenic" "" "0000840849" "1" "70" "6" "51611639" "51611639" "subst" "0" "00006" "PKHD1_000043" "g.51611639T>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51746841T>A" "" "likely pathogenic" "" "0000840850" "1" "70" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52083201G>A" "" "likely pathogenic" "" "0000840851" "1" "90" "6" "51618120" "51618120" "dup" "0" "00006" "PKHD1_000225" "g.51618120dup" "" "{PMID:Furu 2003:12874454}" "" "8829_8830insC" "" "Germline" "" "" "0" "" "" "g.51753322dup" "" "pathogenic" "" "0000840852" "0" "30" "6" "51929841" "51929841" "subst" "0.00230619" "00006" "PKHD1_000560" "g.51929841T>A" "0/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.52065043T>A" "" "likely benign" "" "0000840853" "0" "30" "6" "51923319" "51923319" "subst" "0" "00006" "PKHD1_000559" "g.51923319C>T" "0/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.52058521C>T" "" "likely benign" "" "0000840854" "0" "30" "6" "51893121" "51893121" "subst" "0" "00006" "PKHD1_000554" "g.51893121C>T" "0/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.52028323C>T" "" "likely benign" "" "0000840855" "0" "30" "6" "51889409" "51889409" "subst" "0.00376515" "00006" "PKHD1_000550" "g.51889409G>T" "0/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.52024611G>T" "" "likely benign" "" "0000840856" "0" "30" "6" "51768416" "51768416" "subst" "0" "00006" "PKHD1_000549" "g.51768416G>A" "0/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.51903618G>A" "" "likely benign" "" "0000840857" "0" "30" "6" "51732861" "51732861" "subst" "0.000260591" "00006" "PKHD1_000548" "g.51732861T>C" "0/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.51868063T>C" "" "likely benign" "" "0000840858" "0" "30" "6" "51524625" "51524625" "subst" "0" "00006" "PKHD1_000543" "g.51524625C>T" "0/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.51659827C>T" "" "likely benign" "" "0000840859" "0" "30" "6" "51523956" "51523956" "subst" "4.0707E-6" "00006" "PKHD1_000541" "g.51523956T>C" "0/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "not found in controls" "Germline" "" "" "0" "" "" "g.51659158T>C" "" "likely benign" "" "0000840860" "0" "10" "6" "51923262" "51923262" "subst" "0" "00006" "PKHD1_000558" "g.51923262C>G" "12/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52058464C>G" "" "benign" "" "0000840861" "0" "10" "6" "51915040" "51915040" "subst" "0.00076838" "00006" "PKHD1_000556" "g.51915040C>A" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52050242C>A" "" "benign" "" "0000840862" "0" "10" "6" "51914956" "51914956" "subst" "0.47711" "00006" "PKHD1_000415" "g.51914956G>A" "7/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52050158G>A" "" "benign" "" "0000840863" "0" "10" "6" "51893066" "51893066" "subst" "0" "00006" "PKHD1_000553" "g.51893066C>G" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52028268C>G" "" "benign" "" "0000840864" "0" "10" "6" "51890760" "51890760" "subst" "0" "00006" "PKHD1_000552" "g.51890760G>A" "2/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52025962G>A" "" "benign" "" "0000840865" "0" "10" "6" "51875250" "51875250" "subst" "0.989904" "00006" "PKHD1_000405" "g.51875250A>C" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.52010452A>C" "" "benign" "" "0000840866" "0" "10" "6" "51720758" "51720758" "subst" "0" "00006" "PKHD1_000546" "g.51720758G>C" "22/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51855960G>C" "" "benign" "" "0000840867" "0" "10" "6" "51637536" "51637536" "subst" "0.00920578" "00006" "PKHD1_000081" "g.51637536G>T" "4/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51772738G>T" "" "benign" "" "0000840868" "0" "10" "6" "51612999" "51612999" "subst" "0.00417026" "00006" "PKHD1_000008" "g.51612999C>A" "8/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748201C>A" "" "benign" "" "0000840869" "0" "10" "6" "51612986" "51612986" "subst" "0" "00006" "PKHD1_000544" "g.51612986C>A" "1/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51748188C>A" "" "benign" "" "0000840870" "0" "10" "6" "51524605" "51524605" "subst" "4.06984E-6" "00006" "PKHD1_000238" "g.51524605A>T" "3/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51659807A>T" "" "benign" "" "0000840871" "0" "10" "6" "51524273" "51524273" "subst" "4.89712E-5" "00006" "PKHD1_000542" "g.51524273C>T" "4/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51659475C>T" "" "benign" "" "0000840872" "0" "10" "6" "51491884" "51491884" "subst" "0.559116" "00006" "PKHD1_000436" "g.51491884T>C" "18/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51627086T>C" "" "benign" "" "0000840873" "0" "10" "6" "51484226" "51484226" "subst" "0.0143604" "00006" "PKHD1_000380" "g.51484226C>T" "3/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "" "Germline" "" "" "0" "" "" "g.51619428C>T" "" "benign" "" "0000840874" "0" "10" "6" "51947257" "51947257" "subst" "0.0934508" "00006" "PKHD1_000563" "g.51947257G>A" "4/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52082459G>A" "" "benign" "" "0000840875" "0" "10" "6" "51947234" "51947234" "subst" "0" "00006" "PKHD1_000562" "g.51947234G>A" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52082436G>A" "" "benign" "" "0000840876" "0" "10" "6" "51947195" "51947195" "subst" "0" "00006" "PKHD1_000561" "g.51947195C>T" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52082397C>T" "" "benign" "" "0000840877" "0" "10" "6" "51921703" "51921703" "subst" "0.0669367" "00006" "PKHD1_000418" "g.51921703A>G" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52056905A>G" "" "benign" "" "0000840878" "0" "10" "6" "51917968" "51917968" "subst" "0.0871852" "00006" "PKHD1_000557" "g.51917968T>G" "7/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52053170T>G" "" "benign" "" "0000840879" "0" "10" "6" "51915020" "51915020" "subst" "0" "00006" "PKHD1_000555" "g.51915020A>C" "1/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52050222A>C" "" "benign" "" "0000840880" "0" "10" "6" "51914956" "51914956" "subst" "0.47711" "00006" "PKHD1_000415" "g.51914956G>A" "3/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52050158G>A" "" "benign" "" "0000840881" "0" "10" "6" "51889688" "51889688" "subst" "0" "00006" "PKHD1_000551" "g.51889688T>G" "1/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.52024890T>G" "" "benign" "" "0000840882" "0" "10" "6" "51824680" "51824680" "subst" "0.0318054" "00006" "PKHD1_000403" "g.51824680G>A" "3/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51959882G>A" "" "benign" "" "0000840883" "0" "10" "6" "51732807" "51732807" "subst" "0.499527" "00006" "PKHD1_000398" "g.51732807C>T" "" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51868009C>T" "" "benign" "" "0000840884" "0" "10" "6" "51720838" "51720838" "subst" "0.44446" "00006" "PKHD1_000547" "g.51720838T>C" "5/120 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51856040T>C" "" "benign" "" "0000840885" "0" "10" "6" "51613177" "51613177" "subst" "0.420415" "00006" "PKHD1_000545" "g.51613177C>T" "3/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51748379C>T" "" "benign" "" "0000840886" "0" "10" "6" "51612922" "51612922" "subst" "0.0017835" "00006" "PKHD1_000515" "g.51612922G>A" "1/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51748124G>A" "" "benign" "" "0000840887" "0" "10" "6" "51524403" "51524403" "subst" "0.0662172" "00006" "PKHD1_000429" "g.51524403G>A" "2/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51659605G>A" "" "benign" "" "0000840888" "0" "10" "6" "51512887" "51512887" "subst" "0.0327673" "00006" "PKHD1_000383" "g.51512887A>G" "5/320 chromosomes control" "{PMID:Furu 2003:12874454}" "" "" "found in cases and controls" "Germline" "" "" "0" "" "" "g.51648089A>G" "" "benign" "" "0000845939" "0" "70" "6" "51612785" "51612785" "subst" "0.000187152" "00000" "PKHD1_000490" "g.51612785G>C" "" "{PMID:Kang 2016:27491411}" "" "PKHD1 c.9629C>G, p.Ser3210Cys" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.51747987G>C" "" "likely pathogenic" "" "0000845940" "0" "90" "6" "51921499" "51921499" "subst" "4.06808E-6" "00000" "PKHD1_000358" "g.51921499G>A" "" "{PMID:Kang 2016:27491411}" "" "PKHD1 c.1690C>T, p.Arg564*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.52056701G>A" "" "pathogenic" "" "0000845941" "0" "90" "6" "51920465" "51920465" "subst" "0" "00000" "PKHD1_000565" "g.51920465A>C" "" "{PMID:Kang 2016:27491411}" "" "PKHD1 c.1690C>T, p.Arg564*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.52055667A>C" "RCV001519125.1" "pathogenic" "" "0000845944" "0" "90" "6" "51910887" "51910887" "subst" "8.53777E-5" "00000" "PKHD1_000564" "g.51910887A>G" "" "{PMID:Kang 2016:27491411}" "" "PKHD1 c.1756T>G c.2507T>C, p.Phe586Val p.Val836Ala" "heterozygous" "Unknown" "?" "" "0" "" "" "g.52046089A>G" "" "pathogenic" "" "0000845945" "0" "90" "6" "51497417" "51497417" "subst" "8.13895E-6" "00000" "PKHD1_000212" "g.51497417A>G" "" "{PMID:Kang 2016:27491411}" "" "PKHD1 c.11611T>C, p.Trp3871Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.51632619A>G" "" "pathogenic" "" "0000851246" "0" "30" "6" "51497532" "51497532" "subst" "0.000693057" "02326" "PKHD1_000571" "g.51497532G>A" "" "" "" "PKHD1(NM_138694.4):c.11507-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851247" "0" "30" "6" "51523998" "51523998" "subst" "0.000667519" "02325" "PKHD1_000242" "g.51523998C>T" "" "" "" "PKHD1(NM_138694.3):c.10926G>A (p.M3642I, p.(Met3642Ile)), PKHD1(NM_138694.4):c.10926G>A (p.M3642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851248" "0" "30" "6" "51611651" "51611651" "subst" "0.00320982" "02325" "PKHD1_000004" "g.51611651C>A" "" "" "" "PKHD1(NM_138694.3):c.9866G>T (p.S3289I, p.(Ser3289Ile)), PKHD1(NM_138694.4):c.9866G>T (p.S3289I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851249" "0" "30" "6" "51613152" "51613152" "subst" "0.000105725" "01943" "PKHD1_000580" "g.51613152C>T" "" "" "" "PKHD1(NM_138694.3):c.9262G>A (p.D3088N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851250" "0" "10" "6" "51619706" "51619706" "subst" "0.00345957" "02326" "PKHD1_000582" "g.51619706G>C" "" "" "" "PKHD1(NM_138694.3):c.8673C>G (p.(Arg2891=)), PKHD1(NM_138694.4):c.8673C>G (p.R2891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851251" "0" "30" "6" "51720858" "51720858" "subst" "0.000747724" "02326" "PKHD1_000432" "g.51720858G>A" "" "" "" "PKHD1(NM_138694.3):c.7744C>T (p.P2582S, p.(Pro2582Ser)), PKHD1(NM_138694.4):c.7744C>T (p.P2582S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851252" "0" "70" "6" "51882310" "51882310" "subst" "0.000170814" "02327" "PKHD1_000080" "g.51882310G>A" "" "" "" "PKHD1(NM_138694.3):c.5498C>T (p.(Ser1833Leu)), PKHD1(NM_138694.4):c.5498C>T (p.S1833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851253" "0" "30" "6" "51918850" "51918850" "subst" "0.00360909" "02326" "PKHD1_000602" "g.51918850C>T" "" "" "" "PKHD1(NM_138694.3):c.1950G>A (p.(Arg650=)), PKHD1(NM_138694.4):c.1950G>A (p.R650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860367" "0" "30" "6" "51484164" "51484164" "subst" "0" "01804" "PKHD1_000566" "g.51484164G>C" "" "" "" "PKHD1(NM_138694.3):c.11940C>G (p.(His3980Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860368" "0" "30" "6" "51484207" "51484207" "subst" "4.07747E-6" "01804" "PKHD1_000567" "g.51484207G>A" "" "" "" "PKHD1(NM_138694.3):c.11897C>T (p.(Ala3966Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860369" "0" "30" "6" "51484233" "51484233" "subst" "0" "01804" "PKHD1_000568" "g.51484233G>A" "" "" "" "PKHD1(NM_138694.3):c.11871C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860370" "0" "30" "6" "51484268" "51484268" "subst" "9.7739E-5" "01804" "PKHD1_000569" "g.51484268A>G" "" "" "" "PKHD1(NM_138694.3):c.11836T>C (p.(Leu3946=)), PKHD1(NM_138694.4):c.11836T>C (p.L3946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860371" "0" "10" "6" "51491866" "51491866" "subst" "0.0271308" "01804" "PKHD1_000381" "g.51491866A>T" "" "" "" "PKHD1(NM_138694.3):c.11714T>A (p.(Ile3905Asn)), PKHD1(NM_138694.4):c.11714T>A (p.I3905N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860372" "0" "10" "6" "51497354" "51497354" "dup" "0" "01804" "PKHD1_000570" "g.51497354dup" "" "" "" "PKHD1(NM_138694.3):c.11665+18dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860373" "0" "30" "6" "51503615" "51503615" "del" "0" "01804" "PKHD1_000572" "g.51503615del" "" "" "" "PKHD1(NM_138694.3):c.11506+49del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860374" "0" "10" "6" "51503615" "51503615" "dup" "0" "01804" "PKHD1_000573" "g.51503615dup" "" "" "" "PKHD1(NM_138694.3):c.11506+49_11506+50insT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860375" "0" "30" "6" "51503677" "51503677" "subst" "2.03103E-5" "01804" "PKHD1_000574" "g.51503677G>T" "" "" "" "PKHD1(NM_138694.3):c.11476C>A (p.(His3826Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860376" "0" "30" "6" "51512889" "51512889" "subst" "0.00143191" "01804" "PKHD1_000503" "g.51512889G>A" "" "" "" "PKHD1(NM_138694.3):c.11338C>T (p.(Pro3780Ser)), PKHD1(NM_138694.4):c.11338C>T (p.P3780S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860377" "0" "10" "6" "51523739" "51523739" "subst" "0.013013" "01804" "PKHD1_000384" "g.51523739T>C" "" "" "" "PKHD1(NM_138694.3):c.11174+11A>G (p.(=)), PKHD1(NM_138694.4):c.11174+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860378" "0" "50" "6" "51523998" "51523998" "subst" "0.000667519" "01943" "PKHD1_000242" "g.51523998C>T" "" "" "" "PKHD1(NM_138694.3):c.10926G>A (p.M3642I, p.(Met3642Ile)), PKHD1(NM_138694.4):c.10926G>A (p.M3642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860379" "0" "30" "6" "51523998" "51523998" "subst" "0.000667519" "01804" "PKHD1_000242" "g.51523998C>T" "" "" "" "PKHD1(NM_138694.3):c.10926G>A (p.M3642I, p.(Met3642Ile)), PKHD1(NM_138694.4):c.10926G>A (p.M3642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860380" "0" "30" "6" "51611592" "51611592" "subst" "0.000187312" "01804" "PKHD1_000575" "g.51611592T>C" "" "" "" "PKHD1(NM_138694.3):c.9925A>G (p.(Ile3309Val)), PKHD1(NM_138694.4):c.9925A>G (p.I3309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860381" "0" "30" "6" "51611651" "51611651" "subst" "0.00320982" "01804" "PKHD1_000004" "g.51611651C>A" "" "" "" "PKHD1(NM_138694.3):c.9866G>T (p.S3289I, p.(Ser3289Ile)), PKHD1(NM_138694.4):c.9866G>T (p.S3289I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860382" "0" "50" "6" "51611676" "51611676" "subst" "4.1642E-6" "01804" "PKHD1_000576" "g.51611676A>G" "" "" "" "PKHD1(NM_138694.3):c.9841T>C (p.(Ser3281Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860383" "0" "30" "6" "51612626" "51612626" "subst" "0.0016469" "01804" "PKHD1_000007" "g.51612626A>G" "" "" "" "PKHD1(NM_138694.3):c.9788T>C (p.V3263A, p.(Val3263Ala)), PKHD1(NM_138694.4):c.9788T>C (p.V3263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860384" "0" "90" "6" "51612696" "51612696" "subst" "8.13068E-6" "01804" "PKHD1_000039" "g.51612696G>A" "" "" "" "PKHD1(NM_138694.3):c.9718C>T (p.(Arg3240*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860385" "0" "30" "6" "51612921" "51612921" "subst" "0.000268727" "01804" "PKHD1_000577" "g.51612921C>T" "" "" "" "PKHD1(NM_138694.3):c.9493G>A (p.(Val3165Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860386" "0" "30" "6" "51612982" "51612982" "subst" "4.07266E-6" "01804" "PKHD1_000578" "g.51612982G>T" "" "" "" "PKHD1(NM_138694.3):c.9432C>A (p.(Ile3144=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860387" "0" "30" "6" "51613045" "51613045" "subst" "4.07017E-5" "01804" "PKHD1_000579" "g.51613045C>T" "" "" "" "PKHD1(NM_138694.3):c.9369G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860388" "0" "30" "6" "51613051" "51613051" "subst" "0.000260431" "01804" "PKHD1_000516" "g.51613051A>G" "" "" "" "PKHD1(NM_138694.3):c.9363T>C (p.(Asn3121=)), PKHD1(NM_138694.4):c.9363T>C (p.N3121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860389" "0" "50" "6" "51613425" "51613425" "subst" "0" "01804" "PKHD1_000581" "g.51613425C>A" "" "" "" "PKHD1(NM_138694.3):c.8989G>T (p.(Gly2997Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860390" "0" "30" "6" "51618170" "51618170" "subst" "0.746626" "01804" "PKHD1_000393" "g.51618170T>G" "" "" "" "PKHD1(NM_138694.3):c.8798-19delinsC (p.(=)), PKHD1(NM_138694.4):c.8798-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860392" "0" "30" "6" "51656129" "51656129" "subst" "0.00267941" "01804" "PKHD1_000395" "g.51656129C>G" "" "" "" "PKHD1(NM_138694.3):c.8345G>C (p.G2782A, p.(Gly2782Ala)), PKHD1(NM_138694.4):c.8345G>C (p.G2782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860393" "0" "30" "6" "51695805" "51695805" "dup" "0" "01804" "PKHD1_000583" "g.51695805dup" "" "" "" "PKHD1(NM_138694.3):c.8174-10dup (p.(=)), PKHD1(NM_138694.4):c.8174-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860394" "0" "30" "6" "51712645" "51712645" "subst" "0" "01804" "PKHD1_000584" "g.51712645G>T" "" "" "" "PKHD1(NM_138694.3):c.8035C>A (p.(Leu2679Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860395" "0" "50" "6" "51712759" "51712759" "subst" "0.00205298" "01804" "PKHD1_000093" "g.51712759T>C" "" "" "" "PKHD1(NM_138694.3):c.7921A>G (p.T2641A, p.(Thr2641Ala)), PKHD1(NM_138694.4):c.7921A>G (p.T2641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860396" "0" "10" "6" "51720895" "51720895" "dup" "0" "01804" "PKHD1_000585" "g.51720895dup" "" "" "" "PKHD1(NM_138694.3):c.7734-20dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860397" "0" "50" "6" "51747977" "51747977" "subst" "0.000528344" "01804" "PKHD1_000092" "g.51747977A>C" "" "" "" "PKHD1(NM_138694.3):c.7264T>G (p.(Cys2422Gly)), PKHD1(NM_138694.4):c.7264T>G (p.C2422G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860398" "0" "30" "6" "51768455" "51768455" "subst" "0" "01804" "PKHD1_000586" "g.51768455G>A" "" "" "" "PKHD1(NM_138694.3):c.6936C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860399" "0" "30" "6" "51771044" "51771044" "subst" "0.00507811" "01804" "PKHD1_000587" "g.51771044G>A" "" "" "" "PKHD1(NM_138694.3):c.6777C>T (p.(Phe2259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860400" "0" "30" "6" "51777312" "51777312" "subst" "0.00126082" "01804" "PKHD1_000588" "g.51777312G>A" "" "" "" "PKHD1(NM_138694.3):c.6184C>T (p.(Leu2062=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860401" "0" "10" "6" "51824680" "51824680" "subst" "0.0318054" "01804" "PKHD1_000403" "g.51824680G>A" "" "" "" "PKHD1(NM_138694.3):c.5896C>T (p.(=)), PKHD1(NM_138694.4):c.5896C>T (p.L1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860402" "0" "30" "6" "51875127" "51875127" "subst" "0.000166664" "01804" "PKHD1_000519" "g.51875127G>A" "" "" "" "PKHD1(NM_138694.3):c.5731C>T (p.(Arg1911Cys)), PKHD1(NM_138694.4):c.5731C>T (p.R1911C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860403" "0" "30" "6" "51882330" "51882330" "subst" "0.000911436" "01804" "PKHD1_000520" "g.51882330C>T" "" "" "" "PKHD1(NM_138694.3):c.5478G>A (p.(Ala1826=)), PKHD1(NM_138694.4):c.5478G>A (p.A1826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860404" "0" "30" "6" "51882397" "51882397" "subst" "0.000126243" "01804" "PKHD1_000589" "g.51882397C>T" "" "" "" "PKHD1(NM_138694.3):c.5411G>A (p.(Arg1804His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860405" "0" "10" "6" "51889409" "51889409" "subst" "0.00376515" "01804" "PKHD1_000550" "g.51889409G>T" "" "" "" "PKHD1(NM_138694.3):c.5199C>A (p.(Thr1733=)), PKHD1(NM_138694.4):c.5199C>A (p.T1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860406" "0" "30" "6" "51889688" "51889688" "subst" "0.00220221" "01804" "PKHD1_000407" "g.51889688T>C" "" "" "" "PKHD1(NM_138694.3):c.4920A>G (p.V1640=, p.(Val1640=)), PKHD1(NM_138694.4):c.4920A>G (p.V1640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860407" "0" "30" "6" "51889764" "51889764" "subst" "0.000775836" "01804" "PKHD1_000408" "g.51889764G>A" "" "" "" "PKHD1(NM_138694.3):c.4844C>T (p.(Thr1615Met)), PKHD1(NM_138694.4):c.4844C>T (p.T1615M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860408" "0" "50" "6" "51890065" "51890065" "subst" "4.06699E-6" "01804" "PKHD1_000590" "g.51890065C>T" "" "" "" "PKHD1(NM_138694.3):c.4543G>A (p.(Glu1515Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860409" "0" "50" "6" "51890161" "51890161" "subst" "4.07083E-5" "01804" "PKHD1_000591" "g.51890161C>T" "" "" "" "PKHD1(NM_138694.3):c.4447G>A (p.(Glu1483Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860410" "0" "50" "6" "51890316" "51890316" "subst" "3.66107E-5" "01804" "PKHD1_000592" "g.51890316C>T" "" "" "" "PKHD1(NM_138694.3):c.4292G>A (p.(Cys1431Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860411" "0" "10" "6" "51890573" "51890573" "subst" "0.0107771" "01804" "PKHD1_000593" "g.51890573G>T" "" "" "" "PKHD1(NM_138694.3):c.4035C>A (p.(Gly1345=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860412" "0" "30" "6" "51890804" "51890804" "subst" "0.000330087" "02326" "PKHD1_000594" "g.51890804G>A" "" "" "" "PKHD1(NM_138694.4):c.3804C>T (p.A1268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860413" "0" "30" "6" "51890825" "51890825" "subst" "0.000562352" "01804" "PKHD1_000410" "g.51890825G>A" "" "" "" "PKHD1(NM_138694.3):c.3783C>T (p.G1261=, p.(Gly1261=)), PKHD1(NM_138694.4):c.3783C>T (p.G1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860414" "0" "30" "6" "51892977" "51892977" "subst" "0.00130378" "01804" "PKHD1_000522" "g.51892977A>G" "" "" "" "PKHD1(NM_138694.3):c.3537T>C (p.(Asn1179=)), PKHD1(NM_138694.4):c.3537T>C (p.N1179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860415" "0" "50" "6" "51893047" "51893047" "subst" "2.84289E-5" "01804" "PKHD1_000186" "g.51893047G>A" "" "" "" "PKHD1(NM_138694.3):c.3467C>T (p.(Ser1156Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860416" "0" "30" "6" "51897882" "51897882" "subst" "0" "01804" "PKHD1_000595" "g.51897882A>C" "" "" "" "PKHD1(NM_138694.3):c.3310T>G (p.(Ser1104Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860417" "0" "50" "6" "51897951" "51897951" "subst" "0.000170786" "01804" "PKHD1_000523" "g.51897951G>A" "" "" "" "PKHD1(NM_138694.3):c.3241C>T (p.(Arg1081Cys)), PKHD1(NM_138694.4):c.3241C>T (p.R1081C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860418" "0" "30" "6" "51900434" "51900434" "subst" "2.4378E-5" "01804" "PKHD1_000412" "g.51900434G>A" "" "" "" "PKHD1(NM_138694.3):c.3183C>T (p.V1061=, p.(Val1061=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860419" "0" "90" "6" "51907900" "51907900" "subst" "2.03749E-5" "01804" "PKHD1_000264" "g.51907900C>T" "" "" "" "PKHD1(NM_138694.3):c.2854G>A (p.(Gly952Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860420" "0" "50" "6" "51907901" "51907901" "subst" "0" "01804" "PKHD1_000596" "g.51907901G>T" "" "" "" "PKHD1(NM_138694.3):c.2853C>A (p.(Thr951=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860421" "0" "50" "6" "51907929" "51907929" "subst" "6.1284E-5" "01804" "PKHD1_000597" "g.51907929C>G" "" "" "" "PKHD1(NM_138694.3):c.2825G>C (p.(Gly942Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860422" "0" "50" "6" "51908463" "51908463" "subst" "0.000203303" "01804" "PKHD1_000598" "g.51908463T>C" "" "" "" "PKHD1(NM_138694.3):c.2781A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860423" "0" "30" "6" "51910795" "51910795" "subst" "0" "01804" "PKHD1_000599" "g.51910795T>C" "" "" "" "PKHD1(NM_138694.3):c.2592+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860424" "0" "30" "6" "51913430" "51913430" "subst" "0" "01804" "PKHD1_000600" "g.51913430A>C" "" "" "" "PKHD1(NM_138694.3):c.2280-13T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860425" "0" "30" "6" "51914942" "51914942" "subst" "0.00568616" "01804" "PKHD1_000601" "g.51914942A>C" "" "" "" "PKHD1(NM_138694.3):c.2279+13T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860426" "0" "30" "6" "51918850" "51918850" "subst" "0.00360909" "01804" "PKHD1_000602" "g.51918850C>T" "" "" "" "PKHD1(NM_138694.3):c.1950G>A (p.(Arg650=)), PKHD1(NM_138694.4):c.1950G>A (p.R650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860427" "0" "30" "6" "51920425" "51920425" "subst" "4.47322E-5" "01943" "PKHD1_000603" "g.51920425G>A" "" "" "" "PKHD1(NM_138694.3):c.1796C>T (p.P599L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860428" "0" "30" "6" "51921604" "51921605" "del" "0" "01804" "PKHD1_000604" "g.51921604_51921605del" "" "" "" "PKHD1(NM_138694.3):c.1603-14_1603-13del (p.(=)), PKHD1(NM_138694.4):c.1603-14_1603-13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860429" "0" "30" "6" "51921605" "51921605" "subst" "0.00017902" "01804" "PKHD1_000605" "g.51921605A>T" "" "" "" "PKHD1(NM_138694.3):c.1603-19T>A (p.(=)), PKHD1(NM_138694.4):c.1603-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860430" "0" "30" "6" "51923408" "51923408" "subst" "0.000360756" "01943" "PKHD1_000524" "g.51923408A>G" "" "" "" "PKHD1(NM_138694.3):c.1234-9T>C (p.(=)), PKHD1(NM_138694.4):c.1234-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860431" "0" "30" "6" "51923408" "51923408" "subst" "0.000360756" "01804" "PKHD1_000524" "g.51923408A>G" "" "" "" "PKHD1(NM_138694.3):c.1234-9T>C (p.(=)), PKHD1(NM_138694.4):c.1234-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860432" "0" "10" "6" "51929841" "51929841" "subst" "0.00230619" "02326" "PKHD1_000560" "g.51929841T>A" "" "" "" "PKHD1(NM_138694.3):c.888A>T (p.(Pro296=)), PKHD1(NM_138694.4):c.888A>T (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860433" "0" "50" "6" "51929853" "51929853" "del" "0" "01943" "PKHD1_000606" "g.51929853del" "" "" "" "PKHD1(NM_138694.3):c.881-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860434" "0" "30" "6" "51930899" "51930900" "dup" "0" "01804" "PKHD1_000607" "g.51930899_51930900dup" "" "" "" "PKHD1(NM_138694.3):c.779-12_779-11insTT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860435" "0" "50" "6" "51934285" "51934285" "subst" "0" "01804" "PKHD1_000608" "g.51934285G>C" "" "" "" "PKHD1(NM_138694.3):c.748C>G (p.(Gln250Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860436" "0" "10" "6" "51934300" "51934300" "subst" "0.00405024" "01804" "PKHD1_000609" "g.51934300G>A" "" "" "" "PKHD1(NM_138694.3):c.733C>T (p.(Leu245=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860438" "0" "90" "6" "51944735" "51944735" "del" "5.28022E-5" "01804" "PKHD1_000139" "g.51944735del" "" "" "" "PKHD1(NM_138694.3):c.353del (p.(Ser118Ilefs*35)), PKHD1(NM_138694.3):c.353delG (p.S118Ifs*35), PKHD1(NM_138694.4):c.353delG (p.S118Ifs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860439" "0" "30" "6" "51944754" "51944754" "subst" "0.000349352" "01804" "PKHD1_000149" "g.51944754C>T" "" "" "" "PKHD1(NM_138694.3):c.334G>A (p.(Gly112Arg)), PKHD1(NM_138694.4):c.334G>A (p.G112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860440" "0" "30" "6" "51947196" "51947196" "subst" "0.000621931" "01804" "PKHD1_000427" "g.51947196C>T" "" "" "" "PKHD1(NM_138694.3):c.275G>A (p.R92Q, p.(Arg92Gln)), PKHD1(NM_138694.4):c.275G>A (p.R92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860441" "0" "30" "6" "51947313" "51947313" "subst" "0.0010278" "01804" "PKHD1_000610" "g.51947313T>C" "" "" "" "PKHD1(NM_138694.3):c.158A>G (p.(Asn53Ser)), PKHD1(NM_138694.4):c.158A>G (p.N53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873607" "0" "70" "6" "51612960" "51612960" "del" "0" "00000" "PKHD1_000611" "g.51612960del" "217" "{PMID:Sun 2018:30076350}" "" "PKHD1(NM_138694.3):c.9455delA (p.N3152Tfs*10)/c.5231A>G(p.N1744S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.51748162del" "" "likely pathogenic" "" "0000873608" "0" "70" "6" "51889377" "51889377" "subst" "2.85246E-5" "00000" "PKHD1_000612" "g.51889377T>C" "217" "{PMID:Sun 2018:30076350}" "" "PKHD1(NM_138694.3):c.9455delA (p.N3152Tfs*10)/c.5231A>G(p.N1744S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.52024579T>C" "" "likely pathogenic" "" "0000873917" "0" "10" "6" "51923291" "51923291" "subst" "0.00158602" "00000" "PKHD1_000002" "g.51923291C>G" "" "{PMID:Bell 2011:21228398}" "" "PKHD1 6:52031250 (hg18) het CM051126" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.52058493C>G" "" "benign" "" "0000874666" "3" "70" "6" "51889738" "51889738" "subst" "0.000158417" "00000" "PKHD1_000163" "g.51889738G>A" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "PKHD1,NM_138694.3,c.4870C>T,p.Arg1624Trp" "homozygous" "Unknown" "?" "" "0" "" "" "g.52024940G>A" "" "likely pathogenic" "ACMG" "0000881310" "11" "90" "6" "51890701" "51890701" "del" "0" "02300" "PKHD1_000614" "g.51890701del" "" "{PMID:Marinakis 2021:34008892}" "" "c.3907delG" "ACMG PVS1, PM2, PP3, PP4, PP5" "Germline" "" "" "0" "" "" "g.52025903del" "" "pathogenic (recessive)" "ACMG" "0000881345" "0" "90" "6" "51768399" "51768399" "subst" "0.000451183" "02300" "PKHD1_000020" "g.51768399A>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP5" "Germline/De novo (untested)" "" "rs200179145" "0" "" "" "g.51903601A>T" "" "pathogenic (dominant)" "ACMG" "0000881369" "21" "90" "6" "51637589" "51637589" "subst" "0" "02300" "PKHD1_000613" "g.51637589T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM1, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.51772791T>C" "" "pathogenic (recessive)" "ACMG" "0000887278" "0" "50" "6" "51484080" "51484080" "subst" "0" "01804" "PKHD1_000615" "g.51484080T>C" "" "" "" "PKHD1(NM_138694.3):c.12024A>G (p.(=)), PKHD1(NM_138694.4):c.12024A>G (p.R4008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887279" "0" "50" "6" "51484080" "51484080" "subst" "0" "02326" "PKHD1_000615" "g.51484080T>C" "" "" "" "PKHD1(NM_138694.3):c.12024A>G (p.(=)), PKHD1(NM_138694.4):c.12024A>G (p.R4008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887280" "0" "30" "6" "51484228" "51484228" "subst" "4.07724E-6" "01804" "PKHD1_000616" "g.51484228A>G" "" "" "" "PKHD1(NM_138694.3):c.11876T>C (p.(Ile3959Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887281" "0" "30" "6" "51484268" "51484268" "subst" "9.7739E-5" "02326" "PKHD1_000569" "g.51484268A>G" "" "" "" "PKHD1(NM_138694.3):c.11836T>C (p.(Leu3946=)), PKHD1(NM_138694.4):c.11836T>C (p.L3946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887282" "0" "30" "6" "51491826" "51491826" "subst" "2.43841E-5" "01804" "PKHD1_000617" "g.51491826C>A" "" "" "" "PKHD1(NM_138694.3):c.11754G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887283" "0" "10" "6" "51491842" "51491842" "subst" "0.00118294" "02326" "PKHD1_000481" "g.51491842C>T" "" "" "" "PKHD1(NM_138694.3):c.11738G>A (p.(Arg3913His)), PKHD1(NM_138694.4):c.11738G>A (p.R3913H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887284" "0" "70" "6" "51497523" "51497523" "subst" "0" "01804" "PKHD1_000618" "g.51497523T>C" "" "" "" "PKHD1(NM_138694.3):c.11507-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887285" "0" "30" "6" "51523794" "51523794" "subst" "0.000288836" "01804" "PKHD1_000531" "g.51523794G>A" "" "" "" "PKHD1(NM_138694.3):c.11130C>T (p.I3710=, p.(Ile3710=)), PKHD1(NM_138694.4):c.11130C>T (p.I3710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887287" "0" "30" "6" "51523951" "51523951" "subst" "0.000126206" "01804" "PKHD1_000619" "g.51523951A>G" "" "" "" "PKHD1(NM_138694.3):c.10973T>C (p.(Ile3658Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887288" "0" "50" "6" "51523984" "51523984" "subst" "1.62825E-5" "01804" "PKHD1_000620" "g.51523984T>G" "" "" "" "PKHD1(NM_138694.3):c.10940A>C (p.(His3647Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887289" "0" "30" "6" "51524041" "51524041" "subst" "5.69689E-5" "01804" "PKHD1_000621" "g.51524041G>A" "" "" "" "PKHD1(NM_138694.3):c.10883C>T (p.(Thr3628Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887290" "0" "50" "6" "51524294" "51524294" "subst" "4.08277E-6" "02327" "PKHD1_000622" "g.51524294A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887291" "0" "10" "6" "51524339" "51524339" "subst" "0.00289374" "01804" "PKHD1_000001" "g.51524339C>G" "" "" "" "PKHD1(NM_138694.3):c.10585G>C (p.(Glu3529Gln)), PKHD1(NM_138694.4):c.10585G>C (p.E3529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887292" "0" "10" "6" "51524339" "51524339" "subst" "0.00289374" "02326" "PKHD1_000001" "g.51524339C>G" "" "" "" "PKHD1(NM_138694.3):c.10585G>C (p.(Glu3529Gln)), PKHD1(NM_138694.4):c.10585G>C (p.E3529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887293" "0" "90" "6" "51524750" "51524750" "subst" "1.64397E-5" "02326" "PKHD1_000014" "g.51524750G>A" "" "" "" "PKHD1(NM_138694.4):c.10174C>T (p.Q3392*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887294" "0" "90" "6" "51611517" "51611517" "subst" "0" "02327" "PKHD1_000623" "g.51611517A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887295" "0" "30" "6" "51613476" "51613476" "subst" "0.000392445" "01804" "PKHD1_000624" "g.51613476G>A" "" "" "" "PKHD1(NM_138694.3):c.8951-13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887296" "0" "10" "6" "51618170" "51618170" "del" "0.0281775" "01804" "PKHD1_000625" "g.51618170del" "" "" "" "PKHD1(NM_138694.3):c.8798-19delA (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887297" "0" "30" "6" "51640642" "51640642" "subst" "2.04407E-5" "01804" "PKHD1_000626" "g.51640642G>C" "" "" "" "PKHD1(NM_138694.3):c.8518C>G (p.(Arg2840Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887298" "0" "30" "6" "51695805" "51695805" "subst" "0.00265636" "02326" "PKHD1_000627" "g.51695805A>T" "" "" "" "PKHD1(NM_138694.3):c.8174-18T>A (p.(=)), PKHD1(NM_138694.4):c.8174-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887299" "0" "10" "6" "51701283" "51701283" "subst" "0.0044" "01804" "PKHD1_000628" "g.51701283C>G" "" "" "" "PKHD1(NM_138694.3):c.8108-16G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887300" "0" "10" "6" "51712759" "51712759" "subst" "0.00205298" "02326" "PKHD1_000093" "g.51712759T>C" "" "" "" "PKHD1(NM_138694.3):c.7921A>G (p.T2641A, p.(Thr2641Ala)), PKHD1(NM_138694.4):c.7921A>G (p.T2641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887301" "0" "30" "6" "51720894" "51720895" "dup" "0" "01804" "PKHD1_000517" "g.51720894_51720895dup" "" "" "" "PKHD1(NM_138694.3):c.7734-21_7734-20dup (p.(=)), PKHD1(NM_138694.4):c.7734-21_7734-20dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887302" "0" "50" "6" "51732719" "51732719" "subst" "0.00105014" "01804" "PKHD1_000397" "g.51732719C>G" "" "" "" "PKHD1(NM_138694.3):c.7675G>C (p.V2559L, p.(Val2559Leu)), PKHD1(NM_138694.4):c.7675G>C (p.V2559L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887303" "0" "30" "6" "51732803" "51732803" "subst" "0.000175194" "01804" "PKHD1_000629" "g.51732803G>A" "" "" "" "PKHD1(NM_138694.3):c.7591C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887304" "0" "30" "6" "51732925" "51732926" "del" "0" "02326" "PKHD1_000630" "g.51732925_51732926del" "" "" "" "PKHD1(NM_138694.4):c.7487-18_7487-17delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887305" "0" "30" "6" "51771134" "51771134" "subst" "4.48361E-5" "01804" "PKHD1_000631" "g.51771134A>G" "" "" "" "PKHD1(NM_138694.3):c.6687T>C (p.(Ser2229=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887306" "0" "30" "6" "51774105" "51774105" "subst" "2.44385E-5" "01804" "PKHD1_000632" "g.51774105G>C" "" "" "" "PKHD1(NM_138694.3):c.6658C>G (p.(Leu2220Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887307" "0" "10" "6" "51776766" "51776767" "del" "0" "01804" "PKHD1_000400" "g.51776766_51776767del" "" "" "" "PKHD1(NM_138694.3):c.6333-8_6333-7del (p.(=)), PKHD1(NM_138694.4):c.6333-8_6333-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887308" "0" "30" "6" "51875133" "51875133" "subst" "0.00141026" "02326" "PKHD1_000633" "g.51875133G>A" "" "" "" "PKHD1(NM_138694.4):c.5725C>T (p.R1909W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887309" "0" "30" "6" "51889409" "51889409" "subst" "0.00376515" "02326" "PKHD1_000550" "g.51889409G>T" "" "" "" "PKHD1(NM_138694.3):c.5199C>A (p.(Thr1733=)), PKHD1(NM_138694.4):c.5199C>A (p.T1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887310" "0" "90" "6" "51889738" "51889738" "subst" "0.000158417" "02325" "PKHD1_000163" "g.51889738G>A" "" "" "" "PKHD1(NM_138694.3):c.4870C>T (p.R1624W), PKHD1(NM_138694.4):c.4870C>T (p.R1624W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887311" "0" "30" "6" "51890265" "51890265" "subst" "0.00161278" "01804" "PKHD1_000634" "g.51890265T>C" "" "" "" "PKHD1(NM_138694.3):c.4343A>G (p.(Glu1448Gly)), PKHD1(NM_138694.4):c.4343A>G (p.E1448G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887312" "0" "30" "6" "51890265" "51890265" "subst" "0.00161278" "02326" "PKHD1_000634" "g.51890265T>C" "" "" "" "PKHD1(NM_138694.3):c.4343A>G (p.(Glu1448Gly)), PKHD1(NM_138694.4):c.4343A>G (p.E1448G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887313" "0" "50" "6" "51890304" "51890304" "subst" "0.000170896" "01804" "PKHD1_000635" "g.51890304C>G" "" "" "" "PKHD1(NM_138694.3):c.4304G>C (p.(Ser1435Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887314" "0" "30" "6" "51890624" "51890624" "subst" "0.000489784" "02326" "PKHD1_000636" "g.51890624G>A" "" "" "" "PKHD1(NM_138694.4):c.3984C>T (p.V1328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887315" "0" "30" "6" "51897885" "51897885" "subst" "0" "02326" "PKHD1_000637" "g.51897885C>T" "" "" "" "PKHD1(NM_138694.4):c.3307G>A (p.V1103I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887316" "0" "30" "6" "51907706" "51907706" "subst" "0.000244194" "01804" "PKHD1_000462" "g.51907706A>G" "" "" "" "PKHD1(NM_138694.3):c.3048T>C (p.N1016=, p.(Asn1016=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887317" "0" "70" "6" "51908423" "51908423" "subst" "0" "02326" "PKHD1_000638" "g.51908423C>T" "" "" "" "PKHD1(NM_138694.4):c.2821G>A (p.D941N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887318" "0" "90" "6" "51913356" "51913356" "subst" "4.062E-5" "01804" "PKHD1_000221" "g.51913356G>A" "" "" "" "PKHD1(NM_138694.3):c.2341C>T (p.R781*, p.(Arg781*)), PKHD1(NM_138694.4):c.2341C>T (p.R781*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887319" "0" "50" "6" "51914996" "51914996" "subst" "0" "01804" "PKHD1_000639" "g.51914996C>G" "" "" "" "PKHD1(NM_138694.3):c.2238G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887320" "0" "30" "6" "51915040" "51915040" "subst" "0.00076838" "02326" "PKHD1_000556" "g.51915040C>A" "" "" "" "PKHD1(NM_138694.4):c.2194G>T (p.V732F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887321" "0" "30" "6" "51917987" "51917987" "subst" "0.0017851" "01804" "PKHD1_000003" "g.51917987G>C" "" "" "" "PKHD1(NM_138694.3):c.2027C>G (p.(Pro676Arg)), PKHD1(NM_138694.4):c.2027C>G (p.P676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887322" "0" "30" "6" "51918875" "51918875" "subst" "0.000195168" "02326" "PKHD1_000640" "g.51918875G>A" "" "" "" "PKHD1(NM_138694.4):c.1925C>T (p.T642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887323" "0" "90" "6" "51920391" "51920391" "subst" "1.22065E-5" "02326" "PKHD1_000360" "g.51920391A>T" "" "" "" "PKHD1(NM_138694.4):c.1830T>A (p.Y610*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887324" "0" "50" "6" "51920392" "51920392" "subst" "8.13398E-6" "01804" "PKHD1_000641" "g.51920392T>C" "" "" "" "PKHD1(NM_138694.3):c.1829A>G (p.(Tyr610Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887325" "0" "50" "6" "51921513" "51921513" "subst" "0.000484323" "01804" "PKHD1_000642" "g.51921513C>T" "" "" "" "PKHD1(NM_138694.3):c.1676G>A (p.(Arg559Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887326" "0" "10" "6" "51921514" "51921514" "subst" "0.00154668" "02326" "PKHD1_000494" "g.51921514G>A" "" "" "" "PKHD1(NM_138694.4):c.1675C>T (p.R559W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887327" "0" "30" "6" "51921604" "51921605" "del" "0" "02326" "PKHD1_000604" "g.51921604_51921605del" "" "" "" "PKHD1(NM_138694.3):c.1603-14_1603-13del (p.(=)), PKHD1(NM_138694.4):c.1603-14_1603-13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887328" "0" "30" "6" "51921605" "51921605" "subst" "0.00017902" "02326" "PKHD1_000605" "g.51921605A>T" "" "" "" "PKHD1(NM_138694.3):c.1603-19T>A (p.(=)), PKHD1(NM_138694.4):c.1603-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887329" "0" "90" "6" "51923153" "51923153" "subst" "0" "01804" "PKHD1_000127" "g.51923153G>A" "" "" "" "PKHD1(NM_138694.3):c.1480C>T (p.(Arg494*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887330" "0" "30" "6" "51923404" "51923404" "subst" "0.00294255" "02326" "PKHD1_000474" "g.51923404G>A" "" "" "" "PKHD1(NM_138694.3):c.1234-5C>T (p.?), PKHD1(NM_138694.4):c.1234-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887331" "0" "10" "6" "51929841" "51929841" "subst" "0.00230619" "01804" "PKHD1_000560" "g.51929841T>A" "" "" "" "PKHD1(NM_138694.3):c.888A>T (p.(Pro296=)), PKHD1(NM_138694.4):c.888A>T (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887332" "0" "70" "6" "51930842" "51930842" "subst" "0.000402347" "01804" "PKHD1_000643" "g.51930842A>T" "" "" "" "PKHD1(NM_138694.3):c.812T>A (p.(Leu271His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887334" "0" "30" "6" "51935838" "51935838" "subst" "0.000244133" "01804" "PKHD1_000477" "g.51935838C>T" "" "" "" "PKHD1(NM_138694.3):c.633G>A (p.G211=, p.(Gly211=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887335" "0" "30" "6" "51937005" "51937005" "subst" "0.000275018" "01804" "PKHD1_000644" "g.51937005T>A" "" "" "" "PKHD1(NM_138694.3):c.528-18A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887336" "0" "90" "6" "51944735" "51944735" "del" "5.28022E-5" "02326" "PKHD1_000139" "g.51944735del" "" "" "" "PKHD1(NM_138694.3):c.353del (p.(Ser118Ilefs*35)), PKHD1(NM_138694.3):c.353delG (p.S118Ifs*35), PKHD1(NM_138694.4):c.353delG (p.S118Ifs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887337" "0" "30" "6" "51944749" "51944749" "subst" "8.93612E-5" "01804" "PKHD1_000645" "g.51944749T>A" "" "" "" "PKHD1(NM_138694.3):c.339A>T (p.(Gly113=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887338" "0" "30" "6" "51944755" "51944755" "subst" "6.90619E-5" "01804" "PKHD1_000646" "g.51944755G>A" "" "" "" "PKHD1(NM_138694.3):c.333C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887339" "0" "50" "6" "51947279" "51947279" "subst" "1.2188E-5" "01804" "PKHD1_000647" "g.51947279G>A" "" "" "" "PKHD1(NM_138694.3):c.192C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887340" "0" "30" "6" "51947313" "51947313" "subst" "0.0010278" "02326" "PKHD1_000610" "g.51947313T>C" "" "" "" "PKHD1(NM_138694.3):c.158A>G (p.(Asn53Ser)), PKHD1(NM_138694.4):c.158A>G (p.N53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912540" "0" "30" "6" "51523794" "51523794" "subst" "0.000288836" "02326" "PKHD1_000531" "g.51523794G>A" "" "" "" "PKHD1(NM_138694.3):c.11130C>T (p.I3710=, p.(Ile3710=)), PKHD1(NM_138694.4):c.11130C>T (p.I3710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912541" "0" "30" "6" "51640639" "51640639" "subst" "0.00278827" "02326" "PKHD1_000206" "g.51640639T>C" "" "" "" "PKHD1(NM_138694.3):c.8521A>G (p.(Met2841Val)), PKHD1(NM_138694.4):c.8521A>G (p.M2841V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912542" "0" "30" "6" "51640694" "51640694" "subst" "0" "02326" "PKHD1_000648" "g.51640694C>T" "" "" "" "PKHD1(NM_138694.4):c.8466G>A (p.K2822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912543" "0" "70" "6" "51656162" "51656162" "subst" "0" "02327" "PKHD1_000376" "g.51656162A>G" "" "" "" "PKHD1(NM_138694.4):c.8312T>C (p.(Val2771Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912544" "0" "30" "6" "51747943" "51747943" "subst" "0.0026384" "01804" "PKHD1_000649" "g.51747943T>A" "" "" "" "PKHD1(NM_138694.3):c.7298A>T (p.(Asp2433Val)), PKHD1(NM_138694.4):c.7298A>T (p.D2433V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912545" "0" "50" "6" "51887740" "51887740" "subst" "8.12638E-6" "02327" "PKHD1_000650" "g.51887740A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912546" "0" "30" "6" "51889515" "51889515" "subst" "2.4374E-5" "02326" "PKHD1_000651" "g.51889515T>C" "" "" "" "PKHD1(NM_138694.4):c.5093A>G (p.N1698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912547" "0" "30" "6" "51907664" "51907664" "subst" "0.00038694" "01804" "PKHD1_000652" "g.51907664C>T" "" "" "" "PKHD1(NM_138694.3):c.3090G>A (p.(Ala1030=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912548" "0" "30" "6" "51915066" "51915066" "subst" "0.00155082" "02326" "PKHD1_000468" "g.51915066C>A" "" "" "" "PKHD1(NM_138694.3):c.2168G>T (p.R723L, p.(Arg723Leu)), PKHD1(NM_138694.4):c.2168G>T (p.R723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912549" "0" "50" "6" "51923122" "51923122" "subst" "0" "02327" "PKHD1_000653" "g.51923122T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912550" "0" "50" "6" "51949730" "51949730" "subst" "0" "01804" "PKHD1_000654" "g.51949730A>G" "" "" "" "PKHD1(NM_138694.3):c.2T>C (p.(?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924526" "0" "90" "6" "51611688" "51611688" "subst" "0" "02326" "PKHD1_000655" "g.51611688C>T" "" "" "" "PKHD1(NM_138694.4):c.9830-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924527" "0" "90" "6" "51612884" "51612884" "subst" "5.29299E-5" "02326" "PKHD1_000076" "g.51612884A>G" "" "" "" "PKHD1(NM_138694.4):c.9530T>C (p.I3177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924528" "0" "30" "6" "51618136" "51618136" "subst" "2.4421E-5" "01804" "PKHD1_000656" "g.51618136G>A" "" "" "" "PKHD1(NM_138694.3):c.8813C>T (p.(Thr2938Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924529" "0" "10" "6" "51695805" "51695805" "subst" "0.00265636" "01804" "PKHD1_000627" "g.51695805A>T" "" "" "" "PKHD1(NM_138694.3):c.8174-18T>A (p.(=)), PKHD1(NM_138694.4):c.8174-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924530" "0" "30" "6" "51720729" "51720729" "subst" "0.00350193" "02326" "PKHD1_000657" "g.51720729A>G" "" "" "" "PKHD1(NM_138694.4):c.7873T>C (p.L2625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924531" "0" "50" "6" "51735388" "51735388" "subst" "3.65654E-5" "02326" "PKHD1_000658" "g.51735388A>G" "" "" "" "PKHD1(NM_138694.4):c.7400T>C (p.L2467P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924532" "0" "30" "6" "51750777" "51750777" "subst" "0.0017978" "02326" "PKHD1_000659" "g.51750777A>T" "" "" "" "PKHD1(NM_138694.3):c.7110-7T>A (p.(=)), PKHD1(NM_138694.4):c.7110-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924533" "0" "50" "6" "51875107" "51875107" "subst" "1.21973E-5" "01804" "PKHD1_000660" "g.51875107C>T" "" "" "" "PKHD1(NM_138694.3):c.5751G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924534" "0" "10" "6" "51890732" "51890732" "subst" "0.00264434" "02326" "PKHD1_000661" "g.51890732G>A" "" "" "" "PKHD1(NM_138694.3):c.3876C>T (p.(Thr1292=)), PKHD1(NM_138694.4):c.3876C>T (p.T1292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924535" "0" "30" "6" "51890774" "51890774" "subst" "0.000175308" "02326" "PKHD1_000662" "g.51890774G>A" "" "" "" "PKHD1(NM_138694.3):c.3834C>T (p.(Phe1278=)), PKHD1(NM_138694.4):c.3834C>T (p.F1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924536" "0" "30" "6" "51910931" "51910931" "subst" "0.00086167" "02326" "PKHD1_000663" "g.51910931G>C" "" "" "" "PKHD1(NM_138694.4):c.2463C>G (p.A821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924537" "0" "70" "6" "51910980" "51910980" "subst" "5.28528E-5" "02326" "PKHD1_000077" "g.51910980G>A" "" "" "" "PKHD1(NM_138694.4):c.2414C>T (p.P805L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924538" "0" "30" "6" "51915066" "51915066" "subst" "0.00155082" "01804" "PKHD1_000468" "g.51915066C>A" "" "" "" "PKHD1(NM_138694.3):c.2168G>T (p.R723L, p.(Arg723Leu)), PKHD1(NM_138694.4):c.2168G>T (p.R723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924539" "0" "50" "6" "51941088" "51941088" "subst" "2.439E-5" "01804" "PKHD1_000664" "g.51941088G>C" "" "" "" "PKHD1(NM_138694.3):c.434C>G (p.(Pro145Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929201" "0" "90" "6" "51497362" "51497362" "subst" "3.67137E-5" "02326" "PKHD1_000665" "g.51497362C>T" "" "" "" "PKHD1(NM_138694.4):c.11665+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929202" "0" "30" "6" "51720858" "51720858" "subst" "0.000747724" "01804" "PKHD1_000432" "g.51720858G>A" "" "" "" "PKHD1(NM_138694.3):c.7744C>T (p.P2582S, p.(Pro2582Ser)), PKHD1(NM_138694.4):c.7744C>T (p.P2582S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929203" "0" "30" "6" "51892942" "51892942" "subst" "4.06345E-6" "01804" "PKHD1_000666" "g.51892942T>C" "" "" "" "PKHD1(NM_138694.3):c.3560+12A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929204" "0" "30" "6" "51907820" "51907820" "subst" "0.000719934" "02326" "PKHD1_000499" "g.51907820C>T" "" "" "" "PKHD1(NM_138694.3):c.2934G>A (p.Q978=), PKHD1(NM_138694.4):c.2934G>A (p.Q978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929205" "0" "30" "6" "51918923" "51918923" "subst" "0.00274743" "02326" "PKHD1_000378" "g.51918923T>C" "" "" "" "PKHD1(NM_138694.4):c.1877A>G (p.K626R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929206" "0" "30" "6" "51944763" "51944763" "subst" "0.000910007" "02326" "PKHD1_000479" "g.51944763C>T" "" "" "" "PKHD1(NM_138694.3):c.325G>A (p.(Ala109Thr)), PKHD1(NM_138694.4):c.325G>A (p.A109T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929207" "0" "30" "6" "51947196" "51947196" "subst" "0.000621931" "02326" "PKHD1_000427" "g.51947196C>T" "" "" "" "PKHD1(NM_138694.3):c.275G>A (p.R92Q, p.(Arg92Gln)), PKHD1(NM_138694.4):c.275G>A (p.R92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933358" "11" "90" "6" "51890416" "51890416" "subst" "0" "04556" "PKHD1_000668" "g.51890416G>A" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.52025618G>A" "" "pathogenic (recessive)" "ACMG" "0000933360" "11" "90" "6" "51768842" "51768842" "subst" "0" "04556" "PKHD1_000667" "g.51768842T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51904044T>A" "" "pathogenic (recessive)" "ACMG" "0000933361" "21" "70" "6" "51915053" "51915053" "subst" "0" "04556" "PKHD1_000669" "g.51915053A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52050255A>C" "" "likely pathogenic (recessive)" "ACMG" "0000939872" "1" "70" "6" "51524480" "51524480" "subst" "5.29626E-5" "00006" "PKHD1_000034" "g.51524480G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.51659682G>A" "" "likely pathogenic (recessive)" "" "0000939902" "2" "70" "6" "51882287" "51882287" "subst" "4.0654E-6" "00006" "PKHD1_000670" "g.51882287C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.52017489C>T" "" "likely pathogenic (recessive)" "" "0000948713" "0" "30" "6" "51484304" "51484304" "subst" "0.000423805" "02326" "PKHD1_000671" "g.51484304C>T" "" "" "" "PKHD1(NM_138694.4):c.11800G>A (p.(Val3934Ile), p.V3934I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948714" "0" "70" "6" "51613184" "51613184" "subst" "0" "02326" "PKHD1_000672" "g.51613184C>G" "" "" "" "PKHD1(NM_138694.4):c.9230G>C (p.W3077S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948716" "0" "30" "6" "51747943" "51747943" "subst" "0.0026384" "02326" "PKHD1_000649" "g.51747943T>A" "" "" "" "PKHD1(NM_138694.3):c.7298A>T (p.(Asp2433Val)), PKHD1(NM_138694.4):c.7298A>T (p.D2433V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948717" "0" "50" "6" "51890019" "51890019" "subst" "0" "01804" "PKHD1_000673" "g.51890019A>T" "" "" "" "PKHD1(NM_138694.3):c.4589T>A (p.(Phe1530Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948718" "0" "30" "6" "51890599" "51890599" "subst" "0.000122229" "01804" "PKHD1_000674" "g.51890599C>T" "" "" "" "PKHD1(NM_138694.3):c.4009G>A (p.(Asp1337Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948719" "0" "70" "6" "51907900" "51907900" "subst" "2.03749E-5" "02327" "PKHD1_000264" "g.51907900C>T" "" "" "" "PKHD1(NM_138694.3):c.2854G>A (p.(Gly952Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964167" "0" "30" "6" "51611592" "51611592" "subst" "0.000187312" "02326" "PKHD1_000575" "g.51611592T>C" "" "" "" "PKHD1(NM_138694.3):c.9925A>G (p.(Ile3309Val)), PKHD1(NM_138694.4):c.9925A>G (p.I3309V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964168" "0" "10" "6" "51613177" "51613177" "subst" "0.420415" "02326" "PKHD1_000545" "g.51613177C>T" "" "" "" "PKHD1(NM_138694.4):c.9237G>A (p.A3079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964170" "0" "30" "6" "51889373" "51889373" "subst" "7.3416E-5" "01804" "PKHD1_000675" "g.51889373G>A" "" "" "" "PKHD1(NM_138694.3):c.5235C>T (p.(Phe1745=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964171" "0" "50" "6" "51890409" "51890409" "subst" "2.43782E-5" "01804" "PKHD1_000676" "g.51890409G>A" "" "" "" "PKHD1(NM_138694.3):c.4199C>T (p.(Ser1400Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964172" "0" "50" "6" "51897889" "51897889" "subst" "0.000471326" "01804" "PKHD1_000498" "g.51897889T>C" "" "" "" "PKHD1(NM_138694.3):c.3303A>G (p.(Thr1101=)), PKHD1(NM_138694.4):c.3303A>G (p.T1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964173" "0" "30" "6" "51908518" "51908518" "subst" "0.000805009" "02326" "PKHD1_000487" "g.51908518C>T" "" "" "" "PKHD1(NM_138694.3):c.2726G>A (p.(Arg909Gln)), PKHD1(NM_138694.4):c.2726G>A (p.R909Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964174" "0" "30" "6" "51908540" "51908540" "subst" "8.14266E-6" "01804" "PKHD1_000677" "g.51908540C>T" "" "" "" "PKHD1(NM_138694.3):c.2716-12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972436" "1" "90" "6" "51923237" "51923237" "subst" "0" "00006" "PKHD1_000690" "g.51923237C>T" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52058439C>T" "" "pathogenic (recessive)" "" "0000972459" "2" "90" "6" "51924799" "51924799" "subst" "0" "00006" "PKHD1_000343" "g.51924799T>A" "" "{PMID:Fujimaru 2018:29520754}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52060001T>A" "" "pathogenic (recessive)" "" "0000972462" "1" "90" "6" "51768809" "51768809" "subst" "0" "00006" "PKHD1_000686" "g.51768809C>T" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51904011C>T" "" "pathogenic" "" "0000977277" "0" "50" "6" "51523801" "51523801" "subst" "2.03373E-5" "01804" "PKHD1_000678" "g.51523801A>G" "" "" "" "PKHD1(NM_138694.3):c.11123T>C (p.(Met3708Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977278" "0" "50" "6" "51523922" "51523922" "subst" "0.000183173" "01804" "PKHD1_000679" "g.51523922C>A" "" "" "" "PKHD1(NM_138694.4):c.11002G>T (p.(Asp3668Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977279" "0" "50" "6" "51524008" "51524008" "subst" "5.69879E-5" "01804" "PKHD1_000680" "g.51524008G>T" "" "" "" "PKHD1(NM_138694.4):c.10916C>A (p.(Pro3639His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977280" "0" "50" "6" "51524155" "51524155" "subst" "0" "01804" "PKHD1_000681" "g.51524155A>G" "" "" "" "PKHD1(NM_138694.4):c.10769T>C (p.(Ile3590Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977281" "0" "50" "6" "51524305" "51524305" "subst" "6.93974E-5" "01804" "PKHD1_000428" "g.51524305T>C" "" "" "" "PKHD1(NM_138694.3):c.10619A>G (p.D3540G), PKHD1(NM_138694.4):c.10619A>G (p.(Asp3540Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977282" "0" "50" "6" "51524531" "51524531" "subst" "0" "01804" "PKHD1_000682" "g.51524531T>C" "" "" "" "PKHD1(NM_138694.3):c.10393A>G (p.(Ile3465Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977283" "0" "50" "6" "51611649" "51611649" "subst" "4.90144E-5" "01804" "PKHD1_000683" "g.51611649C>T" "" "" "" "PKHD1(NM_138694.4):c.9868G>A (p.(Asp3290Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977284" "0" "10" "6" "51612575" "51612575" "subst" "0.00131437" "01804" "PKHD1_000388" "g.51612575A>C" "" "" "" "PKHD1(NM_138694.3):c.9829+10T>G (p.(=)), PKHD1(NM_138694.4):c.9829+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977285" "0" "90" "6" "51612725" "51612725" "del" "7.31803E-5" "02326" "PKHD1_000083" "g.51612725del" "" "" "" "PKHD1(NM_138694.4):c.9689delA (p.D3230Vfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977286" "0" "50" "6" "51612752" "51612752" "subst" "0.000394521" "01804" "PKHD1_000504" "g.51612752G>A" "" "" "" "PKHD1(NM_138694.3):c.9662C>T (p.P3221L), PKHD1(NM_138694.4):c.9662C>T (p.(Pro3221Leu), p.P3221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977287" "0" "50" "6" "51612799" "51612799" "subst" "0" "01804" "PKHD1_000684" "g.51612799A>C" "" "" "" "PKHD1(NM_138694.4):c.9615T>G (p.(Ile3205Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977288" "0" "70" "6" "51613307" "51613307" "subst" "2.03639E-5" "01804" "PKHD1_000112" "g.51613307A>C" "" "" "" "PKHD1(NM_138694.4):c.9107T>G (p.(Val3036Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977289" "0" "10" "6" "51619706" "51619706" "subst" "0.00345957" "01804" "PKHD1_000582" "g.51619706G>C" "" "" "" "PKHD1(NM_138694.3):c.8673C>G (p.(Arg2891=)), PKHD1(NM_138694.4):c.8673C>G (p.R2891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977290" "0" "30" "6" "51695805" "51695805" "dup" "0" "02326" "PKHD1_000583" "g.51695805dup" "" "" "" "PKHD1(NM_138694.3):c.8174-10dup (p.(=)), PKHD1(NM_138694.4):c.8174-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977291" "0" "30" "6" "51712773" "51712773" "subst" "0.00104187" "01804" "PKHD1_000506" "g.51712773A>C" "" "" "" "PKHD1(NM_138694.3):c.7912-5T>G, PKHD1(NM_138694.4):c.7912-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977292" "0" "30" "6" "51720686" "51720686" "subst" "3.25076E-5" "02326" "PKHD1_000685" "g.51720686G>T" "" "" "" "PKHD1(NM_138694.4):c.7911+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977293" "0" "50" "6" "51751973" "51751973" "subst" "0.000613313" "01804" "PKHD1_000518" "g.51751973G>A" "" "" "" "PKHD1(NM_138694.4):c.7067C>T (p.(Pro2356Leu), p.P2356L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977294" "0" "50" "6" "51824740" "51824740" "subst" "1.62735E-5" "01804" "PKHD1_000687" "g.51824740C>T" "" "" "" "PKHD1(NM_138694.4):c.5836G>A (p.(Val1946Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977295" "0" "50" "6" "51890068" "51890068" "subst" "6.91366E-5" "01804" "PKHD1_000688" "g.51890068C>G" "" "" "" "PKHD1(NM_138694.3):c.4540G>C (p.(Asp1514His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977296" "0" "30" "6" "51890570" "51890570" "subst" "9.76181E-5" "01804" "PKHD1_000535" "g.51890570G>A" "" "" "" "PKHD1(NM_138694.3):c.4038C>T (p.(Asn1346=)), PKHD1(NM_138694.4):c.4038C>T (p.N1346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977297" "0" "30" "6" "51913285" "51913285" "subst" "4.87397E-5" "01804" "PKHD1_000689" "g.51913285T>C" "" "" "" "PKHD1(NM_138694.4):c.2407+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977298" "0" "30" "6" "51923291" "51923291" "subst" "0.00158602" "02326" "PKHD1_000002" "g.51923291C>G" "" "" "" "PKHD1(NM_138694.3):c.1342G>C (p.(Gly448Arg)), PKHD1(NM_138694.4):c.1342G>C (p.G448R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977299" "0" "90" "6" "51944718" "51944718" "subst" "8.12348E-6" "01804" "PKHD1_000218" "g.51944718G>A" "" "" "" "PKHD1(NM_138694.4):c.370C>T (p.(Arg124*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000989987" "3" "70" "6" "51889738" "51889738" "subst" "0.000158417" "00006" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM3, PM2, PP5" "Germline" "" "" "0" "" "" "g.52024940G>A" "" "likely pathogenic" "" "0000989989" "3" "70" "6" "51824698" "51824698" "subst" "0" "00006" "PKHD1_000152" "g.51824698T>C" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM1,PM5,PM2" "Germline" "" "" "0" "" "" "g.51959900T>C" "" "likely pathogenic" "" "0000989991" "3" "70" "6" "51889738" "51889738" "subst" "0.000158417" "00006" "PKHD1_000163" "g.51889738G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PM3, PP5" "Germline" "" "" "0" "" "" "g.52024940G>A" "" "likely pathogenic" "" "0000989992" "3" "90" "6" "51618086" "51618086" "subst" "0" "00006" "PKHD1_000691" "g.51618086G>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PVS1, PM2, PM3, PP5" "Germline" "" "" "0" "" "" "g.51753288G>A" "" "pathogenic" "" "0000989993" "1" "70" "6" "51887704" "51887704" "subst" "0" "00006" "PKHD1_000693" "g.51887704C>G" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PP3, PP4, PM3" "Germline" "" "" "0" "" "" "g.52022906C>G" "" "likely pathogenic" "" "0000989994" "2" "70" "6" "51777320" "51777320" "subst" "0" "00006" "PKHD1_000692" "g.51777320T>A" "" "{PMID:Ozyavuz Cubuk 2024:38971859}" "" "" "ACMG PM2, PP3, PP4, PM3" "Germline" "" "" "0" "" "" "g.51912522T>A" "" "likely pathogenic" "" "0000995804" "0" "50" "6" "51484077" "51484077" "subst" "0.000350231" "02326" "PKHD1_000121" "g.51484077G>C" "" "" "" "PKHD1(NM_138694.3):c.12027C>G (p.Y4009*), PKHD1(NM_138694.4):c.12027C>G (p.Y4009*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995805" "0" "90" "6" "51513909" "51513909" "subst" "0" "01804" "PKHD1_000263" "g.51513909G>T" "" "" "" "PKHD1(NM_138694.3):c.11284C>A (p.(Pro3762Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995806" "0" "50" "6" "51732886" "51732886" "subst" "1.62966E-5" "01804" "PKHD1_000694" "g.51732886C>T" "" "" "" "PKHD1(NM_138694.3):c.7508G>A (p.(Ser2503Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995809" "0" "50" "6" "51918009" "51918009" "subst" "6.9149E-5" "01804" "PKHD1_000471" "g.51918009G>A" "" "" "" "PKHD1(NM_138694.3):c.2005C>T (p.R669C, p.(Arg669Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995810" "0" "30" "6" "51935813" "51935813" "subst" "0.000236147" "02326" "PKHD1_000695" "g.51935813C>T" "" "" "" "PKHD1(NM_138694.4):c.658G>A (p.D220N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995811" "0" "10" "6" "51938352" "51938354" "del" "0" "02326" "PKHD1_000696" "g.51938352_51938354del" "" "" "" "PKHD1(NM_138694.4):c.449-9_449-7delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014222" "0" "90" "6" "51613076" "51613076" "del" "0" "02326" "PKHD1_000697" "g.51613076del" "" "" "" "PKHD1(NM_138694.4):c.9338delC (p.S3113Ffs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014223" "0" "30" "6" "51613177" "51613177" "subst" "0.420415" "02325" "PKHD1_000545" "g.51613177C>T" "" "" "" "PKHD1(NM_138694.4):c.9237G>A (p.A3079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014224" "0" "30" "6" "51750777" "51750777" "subst" "0.0017978" "01804" "PKHD1_000659" "g.51750777A>T" "" "" "" "PKHD1(NM_138694.3):c.7110-7T>A (p.(=)), PKHD1(NM_138694.4):c.7110-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014225" "0" "50" "6" "51777194" "51777194" "subst" "0" "01804" "PKHD1_000698" "g.51777194T>A" "" "" "" "PKHD1(NM_138694.3):c.6302A>T (p.(Asp2101Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014226" "0" "10" "6" "51890732" "51890732" "subst" "0.00264434" "01804" "PKHD1_000661" "g.51890732G>A" "" "" "" "PKHD1(NM_138694.3):c.3876C>T (p.(Thr1292=)), PKHD1(NM_138694.4):c.3876C>T (p.T1292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001016576" "0" "90" "6" "51944692" "51944692" "subst" "0" "03779" "PKHD1_000699" "g.51944692A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001017271" "1" "70" "6" "51893047" "51893047" "subst" "2.84289E-5" "00006" "PKHD1_000186" "g.51893047G>A" "" "{PMID:Lord 2024:39243181}" "" "" "" "Germline" "" "" "0" "" "" "g.52028249G>A" "{CV:636580}" "likely pathogenic (recessive)" "" "0001017272" "2" "70" "6" "51747238" "51747238" "subst" "0" "00006" "PKHD1_000295" "g.51747238T>C" "" "{PMID:Lord 2024:39243181}" "" "" "" "Germline" "" "" "0" "" "" "g.51882440T>C" "{CV:551996}" "likely pathogenic (recessive)" "" "0001025237" "0" "30" "6" "51524054" "51524054" "subst" "0" "01804" "PKHD1_000700" "g.51524054T>C" "" "" "" "PKHD1(NM_138694.3):c.10870A>G (p.(Thr3624Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025238" "0" "30" "6" "51612922" "51612922" "subst" "0.0017835" "01804" "PKHD1_000515" "g.51612922G>A" "" "" "" "PKHD1(NM_138694.3):c.9492C>T (p.(Ser3164=)), PKHD1(NM_138694.4):c.9492C>T (p.S3164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025239" "0" "10" "6" "51747934" "51747934" "subst" "0.000325283" "02325" "PKHD1_000399" "g.51747934G>A" "" "" "" "PKHD1(NM_138694.4):c.7307C>T (p.T2436I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025240" "0" "50" "6" "51777353" "51777353" "subst" "4.07153E-6" "01804" "PKHD1_000701" "g.51777353A>G" "" "" "" "PKHD1(NM_138694.3):c.6143T>C (p.(Val2048Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025241" "0" "30" "6" "51824808" "51824808" "subst" "0.000729421" "02326" "PKHD1_000164" "g.51824808T>A" "" "" "" "PKHD1(NM_138694.3):c.5768A>T (p.Q1923L, p.(Gln1923Leu)), PKHD1(NM_138694.4):c.5768A>T (p.Q1923L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025242" "0" "70" "6" "51887598" "51887598" "subst" "4.06504E-6" "02326" "PKHD1_000702" "g.51887598C>T" "" "" "" "PKHD1(NM_138694.4):c.5380+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025243" "0" "30" "6" "51890757" "51890757" "subst" "9.37154E-5" "02326" "PKHD1_000458" "g.51890757G>A" "" "" "" "PKHD1(NM_138694.3):c.3851C>T (p.P1284L, p.(Pro1284Leu)), PKHD1(NM_138694.4):c.3851C>T (p.P1284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025244" "0" "10" "6" "51890922" "51890922" "subst" "0.00264457" "02325" "PKHD1_000411" "g.51890922C>G" "" "" "" "PKHD1(NM_138694.3):c.3686G>C (p.(Trp1229Ser)), PKHD1(NM_138694.4):c.3686G>C (p.W1229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025245" "0" "30" "6" "51907901" "51907901" "subst" "0.00341519" "01804" "PKHD1_000509" "g.51907901G>A" "" "" "" "PKHD1(NM_138694.3):c.2853C>T (p.T951=, p.(Thr951=)), PKHD1(NM_138694.4):c.2853C>T (p.T951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035815" "0" "30" "6" "51484304" "51484304" "subst" "0.000423805" "01804" "PKHD1_000671" "g.51484304C>T" "" "" "" "PKHD1(NM_138694.4):c.11800G>A (p.(Val3934Ile), p.V3934I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035816" "0" "50" "6" "51491863" "51491863" "subst" "8.1275E-6" "01804" "PKHD1_000703" "g.51491863T>C" "" "" "" "PKHD1(NM_138694.4):c.11717A>G (p.(His3906Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035817" "0" "50" "6" "51524015" "51524015" "subst" "0.000207614" "01804" "PKHD1_000288" "g.51524015G>A" "" "" "" "PKHD1(NM_138694.4):c.10909C>T (p.(Arg3637Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035818" "0" "50" "6" "51524168" "51524168" "subst" "1.62791E-5" "01804" "PKHD1_000704" "g.51524168T>C" "" "" "" "PKHD1(NM_138694.4):c.10756A>G (p.(Asn3586Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035819" "0" "50" "6" "51609303" "51609303" "subst" "0.000329333" "01804" "PKHD1_000069" "g.51609303A>G" "" "" "" "PKHD1(NM_138694.4):c.10036T>C (p.(Cys3346Arg), p.C3346R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035820" "0" "50" "6" "51611547" "51611547" "subst" "0" "01804" "PKHD1_000705" "g.51611547T>C" "" "" "" "PKHD1(NM_138694.3):c.9970A>G (p.(Lys3324Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035821" "0" "50" "6" "51613131" "51613131" "subst" "0" "01804" "PKHD1_000706" "g.51613131C>G" "" "" "" "PKHD1(NM_138694.4):c.9283G>C (p.(Val3095Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035822" "0" "50" "6" "51732818" "51732818" "subst" "8.14737E-6" "01804" "PKHD1_000707" "g.51732818C>T" "" "" "" "PKHD1(NM_138694.4):c.7576G>A (p.(Asp2526Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035823" "0" "30" "6" "51750784" "51750784" "subst" "0" "01804" "PKHD1_000708" "g.51750784C>T" "" "" "" "PKHD1(NM_138694.3):c.7110-14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035824" "0" "90" "6" "51768399" "51768399" "subst" "0.000451183" "01804" "PKHD1_000020" "g.51768399A>T" "" "" "" "PKHD1(NM_138694.4):c.6992T>A (p.(Ile2331Lys), p.I2331K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035825" "0" "30" "6" "51774198" "51774198" "subst" "6.91355E-5" "01804" "PKHD1_000709" "g.51774198C>T" "" "" "" "PKHD1(NM_138694.4):c.6565G>A (p.(Val2189Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035826" "0" "30" "6" "51777229" "51777229" "subst" "0" "01804" "PKHD1_000710" "g.51777229C>A" "" "" "" "PKHD1(NM_138694.3):c.6267G>T (p.(Pro2089=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035827" "0" "50" "6" "51799028" "51799028" "subst" "4.46831E-5" "01804" "PKHD1_000711" "g.51799028C>T" "" "" "" "PKHD1(NM_138694.4):c.6001G>A (p.(Glu2001Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035828" "0" "50" "6" "51799118" "51799118" "subst" "0" "01804" "PKHD1_000712" "g.51799118C>T" "" "" "" "PKHD1(NM_138694.3):c.5911G>A (p.(Gly1971Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035829" "0" "50" "6" "51824782" "51824782" "subst" "0" "01804" "PKHD1_000713" "g.51824782G>T" "" "" "" "PKHD1(NM_138694.3):c.5794C>A (p.(His1932Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035831" "0" "50" "6" "51875256" "51875256" "subst" "0" "01804" "PKHD1_000714" "g.51875256G>C" "" "" "" "PKHD1(NM_138694.4):c.5602C>G (p.(Pro1868Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035832" "0" "70" "6" "51882310" "51882310" "subst" "0.000170814" "01804" "PKHD1_000080" "g.51882310G>A" "" "" "" "PKHD1(NM_138694.3):c.5498C>T (p.(Ser1833Leu)), PKHD1(NM_138694.4):c.5498C>T (p.S1833L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035833" "0" "50" "6" "51889953" "51889953" "subst" "8.1244E-6" "01804" "PKHD1_000715" "g.51889953A>T" "" "" "" "PKHD1(NM_138694.4):c.4655T>A (p.(Val1552Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035834" "0" "50" "6" "51890503" "51890503" "subst" "5.28249E-5" "01804" "PKHD1_000716" "g.51890503G>A" "" "" "" "PKHD1(NM_138694.4):c.4105C>T (p.(Arg1369Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035835" "0" "50" "6" "51907795" "51907795" "subst" "0" "01804" "PKHD1_000717" "g.51907795A>T" "" "" "" "PKHD1(NM_138694.4):c.2959T>A (p.(Leu987Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035836" "0" "30" "6" "51910998" "51910998" "subst" "4.06871E-6" "01804" "PKHD1_000718" "g.51910998G>T" "" "" "" "PKHD1(NM_138694.3):c.2408-12C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035837" "0" "50" "6" "51913325" "51913325" "subst" "6.09261E-5" "01804" "PKHD1_000719" "g.51913325T>C" "" "" "" "PKHD1(NM_138694.4):c.2372A>G (p.(His791Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035838" "0" "50" "6" "51915060" "51915062" "del" "4.4718E-5" "01804" "PKHD1_000720" "g.51915060_51915062del" "" "" "" "PKHD1(NM_138694.4):c.2172_2174del (p.(Gly726del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035839" "0" "50" "6" "51917906" "51917906" "subst" "0" "01804" "PKHD1_000721" "g.51917906T>A" "" "" "" "PKHD1(NM_138694.4):c.2108A>T (p.(Asp703Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035840" "0" "70" "6" "51917907" "51917907" "subst" "0" "01804" "PKHD1_000035" "g.51917907C>T" "" "" "" "PKHD1(NM_138694.4):c.2107G>A (p.(Asp703Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035841" "0" "90" "6" "51944735" "51944735" "del" "5.28022E-5" "02327" "PKHD1_000139" "g.51944735del" "" "" "" "PKHD1(NM_138694.3):c.353del (p.(Ser118Ilefs*35)), PKHD1(NM_138694.3):c.353delG (p.S118Ifs*35), PKHD1(NM_138694.4):c.353delG (p.S118Ifs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035842" "0" "30" "6" "51947967" "51947967" "subst" "4.06504E-5" "01804" "PKHD1_000722" "g.51947967C>T" "" "" "" "PKHD1(NM_138694.4):c.130+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046067" "0" "30" "6" "51586833" "51586833" "del" "0" "01804" "PKHD1_000723" "g.51586833del" "" "" "" "PKHD1(NM_138694.3):c.10156+22351del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046068" "0" "50" "6" "51612752" "51612752" "subst" "0.000394521" "02325" "PKHD1_000504" "g.51612752G>A" "" "" "" "PKHD1(NM_138694.3):c.9662C>T (p.P3221L), PKHD1(NM_138694.4):c.9662C>T (p.(Pro3221Leu), p.P3221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046069" "0" "30" "6" "51889483" "51889483" "subst" "0.00273055" "02325" "PKHD1_000094" "g.51889483G>A" "" "" "" "PKHD1(NM_138694.3):c.5125C>T (p.(Leu1709Phe)), PKHD1(NM_138694.4):c.5125C>T (p.L1709F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047992" "3" "90" "6" "51752029" "51752029" "dup" "0" "02473" "PKHD1_000725" "g.51752029dup" "" "" "" "7011_7012insT" "" "Germline" "yes" "" "0" "" "" "g.51887231dup" "" "pathogenic" "ACMG" "0001047994" "3" "90" "6" "51798918" "51798919" "del" "0" "02473" "PKHD1_000727" "g.51798918_51798919del" "" "" "" "6111_6112delTT" "" "Germline" "yes" "" "0" "" "" "g.51934120_51934121del" "" "pathogenic (recessive)" "ACMG" "0001047995" "3" "90" "6" "51612864" "51612864" "dup" "0" "02473" "PKHD1_000724" "g.51612864dup" "" "" "" "hg38 Chr6:51748065_51748066insA, 9550dupT" "" "Germline" "yes" "" "0" "" "" "g.51748066dup" "" "pathogenic" "ACMG" "0001047996" "3" "90" "6" "51944748" "51944748" "subst" "0" "02473" "PKHD1_000726" "g.51944748G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.52079950G>A" "" "pathogenic (recessive)" "ACMG" "0001048008" "3" "90" "6" "51752029" "51752029" "dup" "0" "02473" "PKHD1_000725" "g.51752029dup" "" "" "" "7011dupT" "" "Germline" "yes" "" "0" "" "" "g.51887231dup" "" "pathogenic (recessive)" "ACMG" "0001048124" "3" "90" "6" "51602130" "51615333" "delins" "0" "02473" "PKHD1_000728" "g.51602130_51615333delinsCTTAGTATCAATGT" "" "" "" "" "8.2kb in frame copy number loss (homozygous deletion) that encompasses exon 58 to 60 similar to that reported in PMID 16199545" "Germline" "yes" "" "0" "" "" "g.51737332_51750535delinsCTTAGTATCAATGT" "" "pathogenic (recessive)" "ACMG" "0001048444" "10" "90" "6" "51612206" "51619524" "del" "0" "00006" "PKHD1_000729" "g.51612206_51619524del" "" "{PMID:Bergmann 2005:16199545}" "" "AY129465 del 332888_340206" "7319 bp deletion" "Germline/De novo (untested)" "" "" "0" "" "" "g.51747408_51754726del" "" "likely pathogenic (recessive)" "" "0001048445" "21" "90" "6" "51907645" "51907747" "del" "0" "00006" "PKHD1_000730" "g.51907645_51907747del" "" "{PMID:Bergmann 2005:16199545}" "" "3007_3097+12del" "" "Germline" "yes" "" "0" "" "" "g.52042847_52042949del" "" "pathogenic (recessive)" "" "0001048446" "11" "90" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0001048447" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0001048448" "3" "90" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0001048449" "11" "90" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0001048450" "21" "90" "6" "51602130" "51615333" "delins" "0" "00006" "PKHD1_000728" "g.51602130_51615333delinsCTTAGTATCAATGT" "" "{PMID:Bergmann 2005:16199545}" "" "AY129465 del337078_350281 insACA dupTTGATACTAAG" "" "Germline" "yes" "" "0" "" "" "g.51737332_51750535delinsCTTAGTATCAATGT" "" "pathogenic (recessive)" "" "0001048451" "11" "90" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0001048452" "21" "90" "6" "51602130" "51615333" "delins" "0" "00006" "PKHD1_000728" "g.51602130_51615333delinsCTTAGTATCAATGT" "" "{PMID:Bergmann 2005:16199545}" "" "AY129465 del337078_350281 insACA dupTTGATACTAAG" "" "Germline" "yes" "" "0" "" "" "g.51737332_51750535delinsCTTAGTATCAATGT" "" "pathogenic (recessive)" "" "0001048453" "0" "30" "6" "51794859" "51794859" "subst" "0" "00006" "PKHD1_000762" "g.51794859G>A" "1/58 cases PKD, 1/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465:g.157552C>T" "variant in alternatively spliced exon 38.1, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51930061G>A" "" "likely benign" "" "0001048454" "0" "30" "6" "51777023" "51777023" "subst" "0" "00006" "PKHD1_000760" "g.51777023T>G" "2/58 cases PKD, 1/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.175388A>C" "variant in alternatively spliced exon 39.1, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51912225T>G" "" "likely benign" "" "0001048455" "0" "10" "6" "51776918" "51776918" "subst" "0" "00006" "PKHD1_000759" "g.51776918G>C" "3/58 cases PKD, 2/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.175493C>G" "variant in alternatively spliced exon 39.1, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51912120G>C" "" "benign" "" "0001048456" "0" "30" "6" "51608363" "51608363" "subst" "0" "00006" "PKHD1_000747" "g.51608363T>A" "1/58 cases PKD, 1/150 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.344048A>T" "variant in alternatively spliced exon 62.1, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51743565T>A" "" "likely benign" "" "0001048457" "0" "10" "6" "51608132" "51608132" "subst" "0" "00006" "PKHD1_000746" "g.51608132A>G" "19/58 cases PKD, 31/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.344279T>C" "variant in alternatively spliced exon 62.1, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51743334A>G" "" "benign" "" "0001048458" "0" "10" "6" "51608000" "51608000" "subst" "0" "00006" "PKHD1_000745" "g.51608000G>C" "17/58 cases PKD, 21/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.344411C>G" "variant in alternatively spliced exon 62.2, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51743202G>C" "" "benign" "" "0001048459" "0" "10" "6" "51607771" "51607771" "subst" "0" "00006" "PKHD1_000744" "g.51607771C>G" "7/58 cases PKD, 33/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.344640G>C" "variant in alternatively spliced exon 62.3, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51742973C>G" "" "benign" "" "0001048460" "0" "10" "6" "51607708" "51607708" "subst" "0" "00006" "PKHD1_000743" "g.51607708G>A" "9/58 cases PKD, 13/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.344703C>T" "variant in alternatively spliced exon 62.3, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51742910G>A" "" "benign" "" "0001048461" "0" "10" "6" "51546918" "51546918" "subst" "0" "00006" "PKHD1_000742" "g.51546918T>A" "3/58 cases PKD, 6/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.405493A>T" "variant in alternatively spliced exon 64.1, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51682120T>A" "" "benign" "" "0001048462" "0" "10" "6" "51546212" "51546212" "subst" "0" "00006" "PKHD1_000741" "g.51546212C>T" "1/58 cases PKD, 2/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.406199G>A" "variant in alternatively spliced exon 64.4, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51681414C>T" "" "benign" "" "0001048463" "0" "30" "6" "51546146" "51546146" "subst" "0" "00006" "PKHD1_000740" "g.51546146G>A" "2/58 cases PKD, 1/200 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.406265C>T" "variant in alternatively spliced exon 64.4, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51681348G>A" "" "likely benign" "" "0001048464" "0" "10" "6" "51546123" "51546123" "subst" "0" "00006" "PKHD1_000739" "g.51546123G>C" "16/58 cases PKD, 21/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.406288C>G" "variant in alternatively spliced exon 64.4, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51681325G>C" "" "benign" "" "0001048465" "0" "10" "6" "51545760" "51545760" "subst" "0" "00006" "PKHD1_000738" "g.51545760C>G" "4/58 cases PKD, 5/100 controls" "{PMID:Bergmann 2005:16199545}" "" "AY129465.1:g.406651G>C" "variant in alternatively spliced exon 64.5, possibly affecting splicing" "Germline" "" "" "0" "" "" "g.51680962C>G" "" "benign" "" "0001048470" "0" "10" "6" "51949681" "51949681" "subst" "0" "00006" "PKHD1_000780" "g.51949681T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52084883T>C" "" "benign" "" "0001048471" "0" "10" "6" "51947257" "51947257" "subst" "0.0934508" "00006" "PKHD1_000563" "g.51947257G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52082459G>A" "" "benign" "" "0001048472" "0" "10" "6" "51947237" "51947237" "subst" "0.282073" "00006" "PKHD1_000778" "g.51947237G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52082439G>A" "" "benign" "" "0001048473" "0" "10" "6" "51927436" "51927436" "subst" "4.06471E-6" "00006" "PKHD1_000774" "g.51927436T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52062638T>C" "" "benign" "" "0001048474" "0" "10" "6" "51924837" "51924837" "subst" "0" "00006" "PKHD1_000772" "g.51924837T>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52060039T>G" "" "benign" "" "0001048475" "0" "10" "6" "51924774" "51924774" "subst" "0.990588" "00006" "PKHD1_000422" "g.51924774A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52059976A>G" "" "benign" "" "0001048476" "0" "10" "6" "51921703" "51921703" "subst" "0.0669367" "00006" "PKHD1_000418" "g.51921703A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52056905A>G" "" "benign" "" "0001048477" "0" "10" "6" "51918850" "51918850" "subst" "0.00360909" "00006" "PKHD1_000602" "g.51918850C>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52054052C>T" "" "benign" "" "0001048478" "0" "10" "6" "51917968" "51917968" "subst" "0.0871852" "00006" "PKHD1_000557" "g.51917968T>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52053170T>G" "" "benign" "" "0001048479" "0" "10" "6" "51907901" "51907901" "subst" "0.00341519" "00006" "PKHD1_000509" "g.51907901G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52043103G>A" "" "benign" "" "0001048480" "0" "10" "6" "51893121" "51893121" "subst" "0" "00006" "PKHD1_000554" "g.51893121C>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52028323C>T" "" "benign" "" "0001048481" "0" "10" "6" "51892977" "51892977" "subst" "0.00130378" "00006" "PKHD1_000522" "g.51892977A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52028179A>G" "" "benign" "" "0001048482" "0" "10" "6" "51890852" "51890852" "subst" "0.0378951" "00006" "PKHD1_000461" "g.51890852C>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52026054C>G" "" "benign" "" "0001048483" "0" "10" "6" "51890573" "51890573" "subst" "0.0107771" "00006" "PKHD1_000593" "g.51890573G>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52025775G>T" "" "benign" "" "0001048484" "0" "10" "6" "51889688" "51889688" "subst" "0" "00006" "PKHD1_000551" "g.51889688T>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52024890T>G" "" "benign" "" "0001048485" "0" "10" "6" "51824680" "51824680" "subst" "0.0318054" "00006" "PKHD1_000403" "g.51824680G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51959882G>A" "" "benign" "" "0001048486" "0" "10" "6" "51776625" "51776625" "subst" "0" "00006" "PKHD1_000758" "g.51776625A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51911827A>G" "" "benign" "" "0001048487" "0" "10" "6" "51774127" "51774127" "subst" "0" "00006" "PKHD1_000757" "g.51774127G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51909329G>A" "" "benign" "" "0001048488" "0" "10" "6" "51771044" "51771044" "subst" "0.00507811" "00006" "PKHD1_000587" "g.51771044G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51906246G>A" "" "benign" "" "0001048489" "0" "10" "6" "51768491" "51768491" "subst" "1.62562E-5" "00006" "PKHD1_000756" "g.51768491G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51903693G>A" "" "benign" "" "0001048490" "0" "10" "6" "51732807" "51732807" "subst" "0.499527" "00006" "PKHD1_000398" "g.51732807C>T" "" "{PMID:Bergmann 2005:15698423}" "" "7587A>G (G2529G)" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" ":g.51868009C>T" "" "benign" "" "0001048491" "0" "10" "6" "51720838" "51720838" "subst" "0.44446" "00006" "PKHD1_000547" "g.51720838T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51856040T>C" "" "benign" "" "0001048492" "0" "10" "6" "51619706" "51619706" "subst" "0.00345957" "00006" "PKHD1_000582" "g.51619706G>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51754908G>C" "" "benign" "" "0001048493" "0" "10" "6" "51613177" "51613177" "subst" "0.420415" "00006" "PKHD1_000545" "g.51613177C>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748379C>T" "" "benign" "" "0001048494" "0" "10" "6" "51612922" "51612922" "subst" "0.0017835" "00006" "PKHD1_000515" "g.51612922G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748124G>A" "" "benign" "" "0001048495" "0" "10" "6" "51524490" "51524490" "subst" "0" "00006" "PKHD1_000737" "g.51524490A>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51659692A>T" "" "benign" "" "0001048496" "0" "10" "6" "51524403" "51524403" "subst" "0.0662172" "00006" "PKHD1_000429" "g.51524403G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51659605G>A" "" "benign" "" "0001048497" "0" "10" "6" "51512887" "51512887" "subst" "0.0327673" "00006" "PKHD1_000383" "g.51512887A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51648089A>G" "" "benign" "" "0001048498" "0" "10" "6" "51923170" "51923170" "subst" "0" "00006" "PKHD1_000771" "g.51923170C>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52058372C>G" "" "benign" "" "0001048499" "0" "10" "6" "51920485" "51920485" "subst" "0.0245067" "00006" "PKHD1_000417" "g.51920485G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52055687G>A" "" "benign" "" "0001048500" "0" "10" "6" "51915064" "51915064" "subst" "0" "00006" "PKHD1_000768" "g.51915064G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52050266G>A" "" "benign" "" "0001048501" "0" "10" "6" "51914956" "51914956" "subst" "0.47711" "00006" "PKHD1_000415" "g.51914956G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52050158G>A" "" "benign" "" "0001048502" "0" "10" "6" "51910905" "51910905" "subst" "0.0669927" "00006" "PKHD1_000414" "g.51910905T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52046107T>C" "" "benign" "" "0001048503" "0" "10" "6" "51893107" "51893107" "subst" "0.00773686" "00006" "PKHD1_000006" "g.51893107T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52028309T>C" "" "benign" "" "0001048504" "0" "10" "6" "51890823" "51890823" "subst" "0.479928" "00006" "PKHD1_000409" "g.51890823G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52026025G>A" "" "benign" "" "0001048505" "0" "10" "6" "51656129" "51656129" "subst" "0.00267941" "00006" "PKHD1_000395" "g.51656129C>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51791331C>G" "" "benign" "" "0001048506" "0" "10" "6" "51637536" "51637536" "subst" "0.00920578" "00006" "PKHD1_000081" "g.51637536G>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51772738G>T" "" "benign" "" "0001048507" "0" "10" "6" "51613199" "51613199" "subst" "0.00213194" "00006" "PKHD1_000230" "g.51613199G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748401G>A" "" "benign" "" "0001048508" "0" "10" "6" "51613152" "51613152" "subst" "0.000105725" "00006" "PKHD1_000580" "g.51613152C>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748354C>T" "" "benign" "" "0001048509" "0" "10" "6" "51613094" "51613094" "subst" "0" "00006" "PKHD1_000749" "g.51613094C>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748296C>G" "" "benign" "" "0001048510" "0" "10" "6" "51612999" "51612999" "subst" "0.00417026" "00006" "PKHD1_000008" "g.51612999C>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748201C>A" "" "benign" "" "0001048511" "0" "10" "6" "51612837" "51612837" "subst" "0.00489765" "00006" "PKHD1_000391" "g.51612837C>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748039C>T" "" "benign" "" "0001048512" "0" "10" "6" "51524409" "51524409" "subst" "0" "00006" "PKHD1_000736" "g.51524409G>A" "" "{PMID:Bergmann 2005:15698423}" "" "S3505R" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51659611G>A" "" "benign" "" "0001048513" "0" "10" "6" "51497503" "51497503" "subst" "0.0190629" "00006" "PKHD1_000382" "g.51497503C>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51632705C>A" "" "benign" "" "0001048514" "0" "10" "6" "51491884" "51491884" "subst" "0.559116" "00006" "PKHD1_000436" "g.51491884T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51627086T>C" "" "benign" "" "0001048515" "0" "10" "6" "51491866" "51491866" "subst" "0.0271308" "00006" "PKHD1_000381" "g.51491866A>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51627068A>T" "" "benign" "" "0001048516" "0" "10" "6" "51484226" "51484226" "subst" "0.0143604" "00006" "PKHD1_000380" "g.51484226C>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51619428C>T" "" "benign" "" "0001048517" "0" "10" "6" "51483961" "51483961" "subst" "0.566854" "00006" "PKHD1_000379" "g.51483961T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51619163T>C" "" "benign" "" "0001048518" "0" "10" "6" "51948077" "51948077" "subst" "1.62741E-5" "00006" "PKHD1_000779" "g.51948077T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52083279T>C" "" "benign" "" "0001048519" "0" "10" "6" "51938242" "51938242" "subst" "0.275612" "00006" "PKHD1_000777" "g.51938242A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52073444A>G" "" "benign" "" "0001048520" "0" "10" "6" "51935786" "51935786" "subst" "0" "00006" "PKHD1_000776" "g.51935786G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52070988G>A" "" "benign" "" "0001048521" "0" "10" "6" "51935273" "51935273" "subst" "0" "00006" "PKHD1_000775" "g.51935273A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52070475A>G" "" "benign" "" "0001048522" "0" "10" "6" "51923409" "51923409" "subst" "0.147657" "00006" "PKHD1_000525" "g.51923409A>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52058611A>T" "" "benign" "" "0001048523" "0" "10" "6" "51923404" "51923404" "subst" "0.00294255" "00006" "PKHD1_000474" "g.51923404G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52058606G>A" "" "benign" "" "0001048524" "0" "10" "6" "51920560" "51920560" "subst" "0" "00006" "PKHD1_000770" "g.51920560G>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52055762G>C" "" "benign" "" "0001048525" "0" "10" "6" "51918986" "51918986" "subst" "0" "00006" "PKHD1_000769" "g.51918986T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52054188T>C" "" "benign" "" "0001048526" "0" "10" "6" "51914942" "51914942" "subst" "0.00568616" "00006" "PKHD1_000601" "g.51914942A>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52050144A>C" "" "benign" "" "0001048527" "0" "10" "6" "51913452" "51913452" "subst" "0" "00006" "PKHD1_000767" "g.51913452G>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52048654G>T" "" "benign" "" "0001048528" "0" "10" "6" "51913240" "51913240" "subst" "0.4772" "00006" "PKHD1_000766" "g.51913240G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52048442G>A" "" "benign" "" "0001048529" "0" "10" "6" "51893155" "51893155" "subst" "0" "00006" "PKHD1_000765" "g.51893155T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.52028357T>C" "" "benign" "" "0001048530" "0" "10" "6" "51889358" "51889358" "subst" "0.029288" "00006" "PKHD1_000406" "g.51889358T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52024560T>C" "" "benign" "" "0001048531" "0" "10" "6" "51824844" "51824844" "del" "0" "00006" "PKHD1_000764" "g.51824844del" "" "{PMID:Bergmann 2005:15698423}" "" "5752-18delC" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51960046del" "" "benign" "" "0001048532" "0" "30" "6" "51777383" "51777383" "subst" "0" "00006" "PKHD1_000761" "g.51777383G>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51912585G>C" "" "likely benign" "" "0001048533" "0" "30" "6" "51735445" "51735445" "subst" "0" "00006" "PKHD1_000755" "g.51735445T>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51870647T>A" "" "likely benign" "" "0001048534" "0" "10" "6" "51720894" "51720895" "dup" "0" "00006" "PKHD1_000517" "g.51720894_51720895dup" "" "{PMID:Bergmann 2005:15698423}" "" "7734-19insTT" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51856096_51856097dup" "" "benign" "" "0001048535" "0" "10" "6" "51720872" "51720872" "subst" "0.444533" "00006" "PKHD1_000754" "g.51720872A>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51856074A>G" "" "benign" "" "0001048536" "0" "30" "6" "51712773" "51712773" "subst" "0.00104187" "00006" "PKHD1_000506" "g.51712773A>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51847975A>C" "" "likely benign" "" "0001048537" "0" "10" "6" "51695647" "51695647" "subst" "0.374525" "00006" "PKHD1_000396" "g.51695647A>T" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51830849A>T" "" "benign" "" "0001048538" "0" "10" "6" "51640751" "51640751" "subst" "0.445781" "00006" "PKHD1_000753" "g.51640751C>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51775953C>G" "" "benign" "" "0001048539" "0" "10" "6" "51619809" "51619809" "=" "0" "00006" "PKHD1_000752" "g.51619809=" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51755011=" "" "benign" "" "0001048540" "0" "10" "6" "51619760" "51619760" "subst" "0.0261771" "00006" "PKHD1_000751" "g.51619760T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51754962T>C" "" "benign" "" "0001048541" "0" "10" "6" "51618170" "51618170" "subst" "0.746626" "00006" "PKHD1_000393" "g.51618170T>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51753372T>G" "" "benign" "" "0001048542" "0" "10" "6" "51619563" "51619563" "subst" "0" "00006" "PKHD1_000750" "g.51619563C>G" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51754765C>G" "" "benign" "" "0001048543" "0" "10" "6" "51612515" "51612515" "subst" "0" "00006" "PKHD1_000748" "g.51612515A>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51747717A>C" "" "benign" "" "0001048544" "0" "10" "6" "51523740" "51523740" "subst" "0" "00006" "PKHD1_000735" "g.51523740T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51658942T>C" "" "benign" "" "0001048545" "0" "10" "6" "51523739" "51523739" "subst" "0.013013" "00006" "PKHD1_000384" "g.51523739T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51658941T>C" "" "benign" "" "0001048546" "0" "10" "6" "51523724" "51523724" "subst" "0" "00006" "PKHD1_000734" "g.51523724T>C" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51658926T>C" "" "benign" "" "0001048547" "0" "10" "6" "51513864" "51513864" "subst" "8.55202E-5" "00006" "PKHD1_000733" "g.51513864G>A" "" "{PMID:Bergmann 2005:15698423}" "" "" "variant not found in 200 controls" "Germline" "" "" "0" "" "" "g.51649066G>A" "" "benign" "" "0001048548" "0" "10" "6" "51947257" "51947257" "subst" "0.0934508" "00006" "PKHD1_000563" "g.51947257G>A" "25/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52082459G>A" "" "benign" "" "0001048549" "0" "10" "6" "51947237" "51947237" "subst" "0.282073" "00006" "PKHD1_000778" "g.51947237G>A" "15/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52082439G>A" "" "benign" "" "0001048550" "0" "10" "6" "51927436" "51927436" "subst" "4.06471E-6" "00006" "PKHD1_000774" "g.51927436T>C" "6/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52062638T>C" "" "benign" "" "0001048551" "0" "10" "6" "51924774" "51924774" "subst" "0.990588" "00006" "PKHD1_000422" "g.51924774A>G" "4/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52059976A>G" "" "benign" "" "0001048552" "0" "10" "6" "51921703" "51921703" "subst" "0.0669367" "00006" "PKHD1_000418" "g.51921703A>G" "10/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52056905A>G" "" "benign" "" "0001048553" "0" "10" "6" "51917968" "51917968" "subst" "0.0871852" "00006" "PKHD1_000557" "g.51917968T>G" "20/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52053170T>G" "" "benign" "" "0001048554" "0" "10" "6" "51907901" "51907901" "subst" "0.00341519" "00006" "PKHD1_000509" "g.51907901G>A" "2/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52043103G>A" "" "benign" "" "0001048555" "0" "10" "6" "51893121" "51893121" "subst" "0" "00006" "PKHD1_000554" "g.51893121C>T" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52028323C>T" "" "benign" "" "0001048556" "0" "10" "6" "51892977" "51892977" "subst" "0.00130378" "00006" "PKHD1_000522" "g.51892977A>G" "2/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52028179A>G" "" "benign" "" "0001048557" "0" "10" "6" "51890852" "51890852" "subst" "0.0378951" "00006" "PKHD1_000461" "g.51890852C>G" "7/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52026054C>G" "" "benign" "" "0001048558" "0" "10" "6" "51889688" "51889688" "subst" "0" "00006" "PKHD1_000551" "g.51889688T>G" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52024890T>G" "" "benign" "" "0001048559" "0" "10" "6" "51824680" "51824680" "subst" "0.0318054" "00006" "PKHD1_000403" "g.51824680G>A" "5/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51959882G>A" "" "benign" "" "0001048560" "0" "10" "6" "51771044" "51771044" "subst" "0.00507811" "00006" "PKHD1_000587" "g.51771044G>A" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51906246G>A" "" "benign" "" "0001048561" "0" "10" "6" "51768491" "51768491" "subst" "1.62562E-5" "00006" "PKHD1_000756" "g.51768491G>A" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51903693G>A" "" "benign" "" "0001048562" "0" "10" "6" "51732807" "51732807" "subst" "0.499527" "00006" "PKHD1_000398" "g.51732807C>T" "65/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "7587A>G (G2529G)" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51868009C>T" "" "benign" "" "0001048563" "0" "10" "6" "51720838" "51720838" "subst" "0.44446" "00006" "PKHD1_000547" "g.51720838T>C" "20/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51856040T>C" "" "benign" "" "0001048564" "0" "10" "6" "51619706" "51619706" "subst" "0.00345957" "00006" "PKHD1_000582" "g.51619706G>C" "2/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51754908G>C" "" "benign" "" "0001048565" "0" "10" "6" "51613177" "51613177" "subst" "0.420415" "00006" "PKHD1_000545" "g.51613177C>T" "20/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748379C>T" "" "benign" "" "0001048566" "0" "10" "6" "51612922" "51612922" "subst" "0.0017835" "00006" "PKHD1_000515" "g.51612922G>A" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748124G>A" "" "benign" "" "0001048567" "0" "10" "6" "51524490" "51524490" "subst" "0" "00006" "PKHD1_000737" "g.51524490A>T" "4/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51659692A>T" "" "benign" "" "0001048568" "0" "10" "6" "51524403" "51524403" "subst" "0.0662172" "00006" "PKHD1_000429" "g.51524403G>A" "5/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51659605G>A" "" "benign" "" "0001048569" "0" "10" "6" "51512887" "51512887" "subst" "0.0327673" "00006" "PKHD1_000383" "g.51512887A>G" "10/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51648089A>G" "" "benign" "" "0001048570" "0" "10" "6" "51923170" "51923170" "subst" "0" "00006" "PKHD1_000771" "g.51923170C>G" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52058372C>G" "" "benign" "" "0001048571" "0" "10" "6" "51920485" "51920485" "subst" "0.0245067" "00006" "PKHD1_000417" "g.51920485G>A" "2/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52055687G>A" "" "benign" "" "0001048572" "0" "10" "6" "51915064" "51915064" "subst" "0" "00006" "PKHD1_000768" "g.51915064G>A" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52050266G>A" "" "benign" "" "0001048573" "0" "10" "6" "51914956" "51914956" "subst" "0.47711" "00006" "PKHD1_000415" "g.51914956G>A" "46/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52050158G>A" "" "benign" "" "0001048574" "0" "10" "6" "51910905" "51910905" "subst" "0.0669927" "00006" "PKHD1_000414" "g.51910905T>C" "3/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52046107T>C" "" "benign" "" "0001048575" "0" "10" "6" "51893107" "51893107" "subst" "0.00773686" "00006" "PKHD1_000006" "g.51893107T>C" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52028309T>C" "" "benign" "" "0001048576" "0" "10" "6" "51890823" "51890823" "subst" "0.479928" "00006" "PKHD1_000409" "g.51890823G>A" "9/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52026025G>A" "" "benign" "" "0001048577" "0" "10" "6" "51656129" "51656129" "subst" "0.00267941" "00006" "PKHD1_000395" "g.51656129C>G" "2/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51791331C>G" "" "benign" "" "0001048578" "0" "10" "6" "51637536" "51637536" "subst" "0.00920578" "00006" "PKHD1_000081" "g.51637536G>T" "10/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51772738G>T" "" "benign" "" "0001048579" "0" "10" "6" "51613199" "51613199" "subst" "0.00213194" "00006" "PKHD1_000230" "g.51613199G>A" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748401G>A" "" "benign" "" "0001048580" "0" "10" "6" "51613152" "51613152" "subst" "0.000105725" "00006" "PKHD1_000580" "g.51613152C>T" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748354C>T" "" "benign" "" "0001048581" "0" "10" "6" "51613094" "51613094" "subst" "0" "00006" "PKHD1_000749" "g.51613094C>G" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748296C>G" "" "benign" "" "0001048582" "0" "10" "6" "51612999" "51612999" "subst" "0.00417026" "00006" "PKHD1_000008" "g.51612999C>A" "4/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748201C>A" "" "benign" "" "0001048583" "0" "10" "6" "51612837" "51612837" "subst" "0.00489765" "00006" "PKHD1_000391" "g.51612837C>T" "2/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51748039C>T" "" "benign" "" "0001048584" "0" "10" "6" "51524409" "51524409" "subst" "0" "00006" "PKHD1_000736" "g.51524409G>A" "6/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "S3505R" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51659611G>A" "" "benign" "" "0001048585" "0" "10" "6" "51497503" "51497503" "subst" "0.0190629" "00006" "PKHD1_000382" "g.51497503C>A" "8/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51632705C>A" "" "benign" "" "0001048586" "0" "10" "6" "51491884" "51491884" "subst" "0.559116" "00006" "PKHD1_000436" "g.51491884T>C" "50/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51627086T>C" "" "benign" "" "0001048587" "0" "10" "6" "51491866" "51491866" "subst" "0.0271308" "00006" "PKHD1_000381" "g.51491866A>T" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51627068A>T" "" "benign" "" "0001048588" "0" "10" "6" "51484226" "51484226" "subst" "0.0143604" "00006" "PKHD1_000380" "g.51484226C>T" "4/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51619428C>T" "" "benign" "" "0001048589" "0" "10" "6" "51483961" "51483961" "subst" "0.566854" "00006" "PKHD1_000379" "g.51483961T>C" "60/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51619163T>C" "" "benign" "" "0001048590" "0" "10" "6" "51938242" "51938242" "subst" "0.275612" "00006" "PKHD1_000777" "g.51938242A>G" "52/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52073444A>G" "" "benign" "" "0001048591" "0" "10" "6" "51935273" "51935273" "subst" "0" "00006" "PKHD1_000775" "g.51935273A>G" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52070475A>G" "" "benign" "" "0001048592" "0" "10" "6" "51923409" "51923409" "subst" "0.147657" "00006" "PKHD1_000525" "g.51923409A>T" "6/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52058611A>T" "" "benign" "" "0001048593" "0" "10" "6" "51923404" "51923404" "subst" "0.00294255" "00006" "PKHD1_000474" "g.51923404G>A" "1/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52058606G>A" "" "benign" "" "0001048594" "0" "10" "6" "51920560" "51920560" "subst" "0" "00006" "PKHD1_000770" "g.51920560G>C" "4/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52055762G>C" "" "benign" "" "0001048595" "0" "10" "6" "51914942" "51914942" "subst" "0.00568616" "00006" "PKHD1_000601" "g.51914942A>C" "23/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52050144A>C" "" "benign" "" "0001048596" "0" "10" "6" "51913240" "51913240" "subst" "0.4772" "00006" "PKHD1_000766" "g.51913240G>A" "82/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52048442G>A" "" "benign" "" "0001048597" "0" "10" "6" "51889358" "51889358" "subst" "0.029288" "00006" "PKHD1_000406" "g.51889358T>C" "11/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.52024560T>C" "" "benign" "" "0001048598" "0" "10" "6" "51720872" "51720872" "subst" "0.444533" "00006" "PKHD1_000754" "g.51720872A>G" "35/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51856074A>G" "" "benign" "" "0001048599" "0" "10" "6" "51695647" "51695647" "subst" "0.374525" "00006" "PKHD1_000396" "g.51695647A>T" "15/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51830849A>T" "" "benign" "" "0001048600" "0" "10" "6" "51640751" "51640751" "subst" "0.445781" "00006" "PKHD1_000753" "g.51640751C>G" "42/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51775953C>G" "" "benign" "" "0001048601" "0" "10" "6" "51619809" "51619809" "=" "0" "00006" "PKHD1_000752" "g.51619809=" "27/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51755011=" "" "benign" "" "0001048602" "0" "10" "6" "51619760" "51619760" "subst" "0.0261771" "00006" "PKHD1_000751" "g.51619760T>C" "10/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51754962T>C" "" "benign" "" "0001048603" "0" "10" "6" "51618170" "51618170" "subst" "0.746626" "00006" "PKHD1_000393" "g.51618170T>G" "9/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51753372T>G" "" "benign" "" "0001048604" "0" "10" "6" "51523739" "51523739" "subst" "0.013013" "00006" "PKHD1_000384" "g.51523739T>C" "5/200 in controls" "{PMID:Bergmann 2005:15698423}" "" "" "variant found in PKD cases and controls" "Germline" "" "" "0" "" "" "g.51658941T>C" "" "benign" "" "0001048608" "21" "90" "6" "51768399" "51768399" "subst" "0.000451183" "00006" "PKHD1_000020" "g.51768399A>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51903601A>T" "" "pathogenic (recessive)" "" "0001048609" "21" "90" "6" "51768399" "51768399" "subst" "0.000451183" "00006" "PKHD1_000020" "g.51768399A>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51903601A>T" "" "pathogenic (recessive)" "" "0001048610" "11" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048611" "11" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048612" "21" "90" "6" "51768399" "51768399" "subst" "0.000451183" "00006" "PKHD1_000020" "g.51768399A>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51903601A>T" "" "pathogenic (recessive)" "" "0001048613" "21" "90" "6" "51935807" "51935807" "subst" "0.000101771" "00006" "PKHD1_000012" "g.51935807T>C" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52071009T>C" "" "pathogenic (recessive)" "" "0001048614" "11" "90" "6" "51907665" "51907665" "subst" "0" "00006" "PKHD1_000049" "g.51907665G>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "" "" "0" "" "" "g.52042867G>T" "" "pathogenic (recessive)" "" "0001048615" "11" "90" "6" "51613095" "51613095" "subst" "0" "00006" "PKHD1_000038" "g.51613095G>A" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.51748297G>A" "" "pathogenic (recessive)" "" "0001048616" "11" "90" "6" "51893147" "51893147" "subst" "8.12684E-6" "00006" "PKHD1_000031" "g.51893147C>T" "" "{PMID:Bergmann 2003:12506140}, {PMID:Bergmann 2005:15698423}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52028349C>T" "" "pathogenic (recessive)" "" "0001048617" "21" "90" "6" "51613067" "51613067" "del" "0" "00006" "PKHD1_000060" "g.51613067del" "" "{PMID:Bergmann 2003:12506140}" "" "9347delT (L3116fsx3161)" "" "Germline" "" "" "0" "" "" "g.51748269del" "" "pathogenic (recessive)" "" "0001048618" "21" "90" "6" "51524512" "51524512" "subst" "6.9194E-5" "00006" "PKHD1_000050" "g.51524512A>C" "" "{PMID:Bergmann 2003:12506140}" "" "" "" "Germline" "" "" "0" "" "" "g.51659714A>C" "" "pathogenic (recessive)" "" "0001048619" "3" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048620" "11" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048621" "21" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048622" "21" "90" "6" "51613095" "51613095" "subst" "0" "00006" "PKHD1_000038" "g.51613095G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R3107X" "" "Germline" "" "" "0" "" "" "g.51748297G>A" "" "pathogenic (recessive)" "" "0001048623" "11" "90" "6" "51947999" "51947999" "subst" "0.000447027" "00006" "PKHD1_000018" "g.51947999G>A" "" "{PMID:Bergmann 2003:12506140}" "" "T36M" "" "Germline" "" "" "0" "" "" "g.52083201G>A" "" "pathogenic (recessive)" "" "0001048624" "3" "90" "6" "51799036" "51799036" "subst" "4.06174E-6" "00006" "PKHD1_000047" "g.51799036A>G" "" "{PMID:Bergmann 2003:12506140}" "" "I1998T" "" "Germline" "" "" "0" "" "" "g.51934238A>G" "" "pathogenic (recessive)" "" "0001048625" "3" "90" "6" "51927367" "51927367" "dup" "0" "00006" "PKHD1_000773" "g.51927367dup" "" "{PMID:Bergmann 2003:12506140}" "" "c.1068_1069insT" "" "Germline" "" "" "0" "" "" "g.52062569dup" "" "pathogenic (recessive)" "" "0001048626" "3" "90" "6" "51927367" "51927367" "dup" "0" "00006" "PKHD1_000773" "g.51927367dup" "" "{PMID:Bergmann 2003:12506140}" "" "c.1068_1069insT" "" "Germline" "" "" "0" "" "" "g.52062569dup" "" "pathogenic (recessive)" "" "0001048627" "3" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048628" "11" "90" "6" "51798979" "51798979" "subst" "0" "00006" "PKHD1_000763" "g.51798979G>C" "" "{PMID:Bergmann 2003:12506140}" "" "S2016C" "" "Germline" "" "" "0" "" "" "g.51934181G>C" "" "pathogenic (recessive)" "" "0001048629" "11" "90" "6" "51934319" "51934322" "del" "8.12546E-6" "00006" "PKHD1_000377" "g.51934319_51934322del" "" "{PMID:Bergmann 2003:12506140}" "" "Ser237fsx244" "" "Germline" "" "" "0" "" "" "g.52069521_52069524del" "" "pathogenic (recessive)" "" "0001048630" "3" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048631" "3" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048632" "3" "90" "6" "51923147" "51923147" "subst" "0.000699244" "00006" "PKHD1_000041" "g.51923147G>A" "" "{PMID:Bergmann 2003:12506140}" "" "R496X" "" "Germline" "" "" "0" "" "" "g.52058349G>A" "" "pathogenic (recessive)" "" "0001048633" "21" "90" "6" "51524512" "51524512" "subst" "6.9194E-5" "00006" "PKHD1_000050" "g.51524512A>C" "" "{PMID:Bergmann 2003:12506140}" "" "V3471G" "" "Germline" "" "" "0" "" "" "g.51659714A>C" "" "pathogenic (recessive)" "" "0001048634" "11" "90" "6" "51524512" "51524512" "subst" "6.9194E-5" "00006" "PKHD1_000050" "g.51524512A>C" "" "{PMID:Bergmann 2003:12506140}" "" "V3471G" "" "Germline" "" "" "0" "" "" "g.51659714A>C" "" "pathogenic (recessive)" "" "0001048635" "11" "90" "6" "51611639" "51611639" "subst" "0" "00006" "PKHD1_000043" "g.51611639T>A" "" "{PMID:Bergmann 2003:12506140}" "" "D3293V" "" "Germline" "" "" "0" "" "" "g.51746841T>A" "" "pathogenic (recessive)" "" "0001048636" "21" "90" "6" "51524512" "51524512" "subst" "6.9194E-5" "00006" "PKHD1_000050" "g.51524512A>C" "" "{PMID:Bergmann 2003:12506140}" "" "V3471G" "" "Germline" "" "" "0" "" "" "g.51659714A>C" "" "pathogenic (recessive)" "" "0001048637" "21" "90" "6" "51524215" "51524215" "subst" "4.07531E-6" "00006" "PKHD1_000190" "g.51524215G>C" "" "{PMID:Bergmann 2003:12506140}" "" "S3570X" "" "Germline" "" "" "0" "" "" "g.51659417G>C" "" "pathogenic (recessive)" "" "0001048638" "21" "90" "6" "51824681" "51824681" "dup" "0" "00006" "PKHD1_000027" "g.51824681dup" "" "{PMID:Bergmann 2003:12506140}" "" "5895_5896insA (Leu1966fsx1969)" "" "Germline" "" "" "0" "" "" "g.51959883dup" "" "pathogenic (recessive)" "" "0001052389" "0" "70" "6" "51483962" "51483962" "subst" "0.000349986" "01804" "PKHD1_000781" "g.51483962G>A" "" "" "" "PKHD1(NM_138694.4):c.12142C>T (p.(Gln4048*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052390" "0" "90" "6" "51524705" "51524705" "subst" "8.161E-6" "01804" "PKHD1_000125" "g.51524705G>A" "" "" "" "PKHD1(NM_138694.3):c.10219C>T (p.(Gln3407*)), PKHD1(NM_138694.4):c.10219C>T (p.Q3407*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052391" "0" "50" "6" "51612861" "51612861" "subst" "0.000191377" "01804" "PKHD1_000782" "g.51612861C>T" "" "" "" "PKHD1(NM_138694.4):c.9553G>A (p.(Val3185Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052392" "0" "50" "6" "51637586" "51637586" "subst" "0" "01804" "PKHD1_000783" "g.51637586C>G" "" "" "" "PKHD1(NM_138694.4):c.8556G>C (p.(Gly2852=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052393" "0" "70" "6" "51656162" "51656162" "subst" "0" "01804" "PKHD1_000376" "g.51656162A>G" "" "" "" "PKHD1(NM_138694.4):c.8312T>C (p.(Val2771Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052394" "0" "30" "6" "51890774" "51890774" "subst" "0.000175308" "01804" "PKHD1_000662" "g.51890774G>A" "" "" "" "PKHD1(NM_138694.3):c.3834C>T (p.(Phe1278=)), PKHD1(NM_138694.4):c.3834C>T (p.F1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052395" "0" "30" "6" "51893148" "51893148" "subst" "5.28266E-5" "01804" "PKHD1_000784" "g.51893148G>A" "" "" "" "PKHD1(NM_138694.3):c.3366C>T (p.(Gly1122=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052396" "0" "50" "6" "51923326" "51923326" "subst" "0.00017088" "01804" "PKHD1_000785" "g.51923326G>C" "" "" "" "PKHD1(NM_138694.3):c.1307C>G (p.(Thr436Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059016" "0" "90" "6" "51929800" "51929800" "del" "0" "00006" "PKHD1_000786" "g.51929800del" "" "{PMID:Retterer 2016:26633542}" "" "930delC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.52065002del" "" "pathogenic" "" "0001059017" "0" "90" "6" "51889474" "51889474" "subst" "0.00075994" "00006" "PKHD1_000312" "g.51889474C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.52024676C>T" "" "pathogenic" "" "0001064563" "0" "50" "6" "51771069" "51771069" "subst" "0" "02325" "PKHD1_000787" "g.51771069C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064564" "0" "90" "6" "51907900" "51907900" "subst" "2.03749E-5" "02325" "PKHD1_000264" "g.51907900C>T" "" "" "" "PKHD1(NM_138694.3):c.2854G>A (p.(Gly952Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001068097" "0" "70" "6" "51824681" "51824681" "dup" "0" "04908" "PKHD1_000027" "g.51824681dup" "" "" "" "5895_5896insA" "" "Germline" "" "" "0" "" "" "g.51959883dup" "" "likely pathogenic" "" "0001068100" "0" "90" "6" "51824681" "51824681" "dup" "0" "04908" "PKHD1_000027" "g.51824681dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51959883dup" "" "pathogenic" "" "0001071030" "0" "50" "6" "51889522" "51889522" "subst" "0" "00006" "PKHD1_000530" "g.51889522A>C" "" "{PMID:Nair 2018:30293248}" "" "" "possible combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.52024724A>C" "" "VUS" "" ## 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 PKHD1 ## Count = 1254 "{{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}}" "0000001210" "00000115" "50" "10585" "0" "10585" "0" "c.10585G>C" "r.(?)" "p.(Glu3529Gln)" "61" "0000001212" "00000115" "50" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "21" "0000001213" "00000115" "50" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "21" "0000001214" "00000115" "50" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000001215" "00000115" "50" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000001216" "00000115" "50" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000001217" "00000115" "50" "7029" "0" "7029" "0" "c.7029C>A" "r.(?)" "p.(Tyr2343*)" "" "0000001218" "00000115" "50" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "30" "0000001219" "00000115" "50" "9788" "0" "9788" "0" "c.9788T>C" "r.(?)" "p.(Val3263Ala)" "" "0000001220" "00000115" "50" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "" "0000001221" "00000115" "50" "6854" "0" "6854" "0" "c.6854G>A" "r.(?)" "p.(Gly2285Glu)" "" "0000087535" "00000115" "10" "10585" "0" "10585" "0" "c.10585G>C" "r.(?)" "p.(Glu3529Gln)" "61" "0000087536" "00000115" "10" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "21" "0000087537" "00000115" "70" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Gly448Arg)" "16" "0000087538" "00000115" "10" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "59" "0000087539" "00000115" "10" "9788" "0" "9788" "0" "c.9788T>C" "r.(?)" "p.(Val3263Ala)" "58" "0000087540" "00000115" "10" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "30" "0000087541" "00000115" "30" "6854" "0" "6854" "0" "c.6854G>A" "r.(?)" "p.(Gly2285Glu)" "42" "0000087542" "00000115" "90" "7029" "0" "7029" "0" "c.7029C>A" "r.(?)" "p.(Tyr2343*)" "44" "0000087543" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000087544" "00000115" "90" "10077" "0" "10077" "0" "c.10077del" "r.(?)" "p.(Arg3360Glufs*40)" "60" "0000087545" "00000115" "90" "3306" "0" "3306" "0" "c.3306del" "r.(?)" "p.(Tyr1102*)" "29" "0000087546" "00000115" "30" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Ile222Val)" "9" "0000087547" "00000115" "90" "5221" "0" "5221" "0" "c.5221G>A" "r.(?)" "p.(Val1741Met)" "32" "0000087548" "00000115" "90" "10174" "0" "10174" "0" "c.10174C>T" "r.(?)" "p.(Gln3392*)" "61" "0000087549" "00000115" "90" "8011" "0" "8011" "0" "c.8011C>T" "r.(?)" "p.(Arg2671*)" "50" "0000087550" "00000115" "10" "5750" "0" "5750" "0" "c.5750A>G" "r.(?)" "p.(Gln1917Arg)" "35" "0000087551" "00000115" "10" "5984" "0" "5984" "0" "c.5984A>G" "r.(?)" "p.(Glu1995Gly)" "37" "0000087552" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "3" "0000087553" "00000115" "70" "8870" "0" "8870" "0" "c.8870T>C" "r.(?)" "p.(Ile2957Thr)" "57" "0000087554" "00000115" "90" "6992" "0" "6992" "0" "c.6992T>A" "r.(?)" "p.(Ile2331Lys)" "43" "0000087555" "00000115" "90" "10658" "0" "10658" "0" "c.10658T>C" "r.(?)" "p.(Ile3553Thr)" "61" "0000087556" "00000115" "90" "4220" "0" "4220" "0" "c.4220T>G" "r.(?)" "p.(Leu1407Arg)" "32" "0000087557" "00000115" "90" "9053" "0" "9053" "0" "c.9053C>T" "r.(?)" "p.(Ser3018Phe)" "58" "0000087558" "00000115" "90" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Ser1664Phe)" "32" "0000087559" "00000115" "90" "11612" "0" "11612" "0" "c.11612G>A" "r.(?)" "p.(Trp3871*)" "65" "0000087560" "00000115" "90" "3747" "0" "3747" "0" "c.3747T>G" "r.(?)" "p.(Cys1249Trp)" "32" "0000087561" "00000115" "90" "5895" "0" "5895" "0" "c.5895dup" "r.(?)" "p.(Leu1966Thrfs*4)" "36" "0000087562" "00000115" "90" "1626" "0" "1629" "0" "c.1626_1629del" "r.(?)" "p.(Leu543Glnfs*2)" "18" "0000087563" "00000115" "90" "10637" "0" "10637" "0" "c.10637del" "r.(?)" "p.(Val3546Alafs*22)" "61" "0000087564" "00000115" "90" "977" "-1" "977" "-1" "c.977-1G>A" "r.spl" "p.?" "13i" "0000087565" "00000115" "90" "10444" "0" "10444" "0" "c.10444C>T" "r.(?)" "p.(Arg3482Cys)" "61" "0000087566" "00000115" "70" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "9" "0000087567" "00000115" "90" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496*)" "16" "0000087568" "00000115" "90" "10444" "0" "10444" "0" "c.10444C>T" "r.(?)" "p.(Arg3482Cys)" "61" "0000087569" "00000115" "90" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Asp703Asn)" "21" "0000087570" "00000115" "90" "10481" "0" "10503" "0" "c.10481_10503del" "r.(?)" "p.(Leu3494Argfs*28)" "61" "0000087571" "00000115" "90" "1512" "1" "1512" "1" "c.1512+1G>A" "r.spl" "p.?" "16i" "0000087572" "00000115" "90" "9319" "0" "9319" "0" "c.9319C>T" "r.(?)" "p.(Arg3107*)" "58" "0000087573" "00000115" "90" "9718" "0" "9718" "0" "c.9718C>T" "r.(?)" "p.(Arg3240*)" "58" "0000087574" "00000115" "90" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328*)" "14" "0000087575" "00000115" "90" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496*)" "16" "0000087576" "00000115" "90" "5895" "0" "5895" "0" "c.5895dup" "r.(?)" "p.(Leu1966Thrfs*4)" "36" "0000087577" "00000115" "90" "9878" "0" "9878" "0" "c.9878A>T" "r.(?)" "p.(Asp3293Val)" "59" "0000087578" "00000115" "90" "1418" "0" "1418" "0" "c.1418T>G" "r.(?)" "p.(Ile473Ser)" "16" "0000087579" "00000115" "70" "1487" "0" "1487" "0" "c.1487G>C" "r.(?)" "p.(Arg496Pro)" "16" "0000087580" "00000115" "90" "1106" "0" "1113" "0" "c.1106_1113del" "r.(?)" "p.(Gly369Valfs*16)" "14" "0000087581" "00000115" "90" "5993" "0" "5993" "0" "c.5993T>C" "r.(?)" "p.(Ile1998Thr)" "37" "0000087582" "00000115" "90" "1512" "1" "1512" "1" "c.1512+1G>A" "r.spl?" "p.?" "16i" "0000087583" "00000115" "90" "3089" "0" "3089" "0" "c.3089C>A" "r.(?)" "p.(Ala1030Glu)" "27" "0000087584" "00000115" "90" "10412" "0" "10412" "0" "c.10412T>G" "r.(?)" "p.(Val3471Gly)" "61" "0000087585" "00000115" "90" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Trp656Cys)" "21" "0000087586" "00000115" "90" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496*)" "16" "0000087587" "00000115" "90" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496*)" "16" "0000087588" "00000115" "90" "1418" "0" "1418" "0" "c.1418T>G" "r.(?)" "p.(Ile473Ser)" "16" "0000087589" "00000115" "90" "10972" "0" "10973" "0" "c.10972_10973del" "r.(?)" "p.(Ile3658Leufs*7)" "61" "0000087590" "00000115" "90" "5378" "0" "5380" "1" "c.5378_5380+1del" "r.spl" "p.?" "33_33i" "0000087591" "00000115" "90" "3958" "0" "3959" "0" "c.3958_3959del" "r.(?)" "p.(Gly1320Argfs*3)" "32" "0000087592" "00000115" "90" "1411" "0" "1412" "0" "c.1411_1412del" "r.(?)" "p.(Val471Profs*10)" "16" "0000087593" "00000115" "90" "126" "0" "126" "0" "c.126del" "r.(?)" "p.(Phe42Leufs*22)" "3" "0000087594" "00000115" "90" "9347" "0" "9347" "0" "c.9347del" "r.(?)" "p.(Leu3116Argfs*46)" "58" "0000087595" "00000115" "90" "501" "0" "501" "0" "c.501del" "r.(?)" "p.(Phe167Leufs*12)" "7" "0000087596" "00000115" "90" "657" "0" "657" "0" "c.657G>A" "r.(spl?)" "p.?" "9" "0000087597" "00000115" "90" "5381" "-9" "5381" "-9" "c.5381-9T>G" "r.(spl?)" "p.(=)" "33i" "0000087598" "00000115" "90" "3229" "-2" "3229" "-2" "c.3229-2A>C" "r.spl" "p.?" "28i" "0000087599" "00000115" "10" "2269" "0" "2269" "0" "c.2269A>C" "r.(?)" "p.(Ile757Leu)" "22" "0000087600" "00000115" "10" "10402" "0" "10402" "0" "c.10402A>G" "r.(?)" "p.(Ile3468Val)" "61" "0000087601" "00000115" "90" "4165" "0" "4165" "0" "c.4165C>A" "r.(?)" "p.(Pro1389Thr)" "32" "0000087602" "00000115" "90" "10036" "0" "10036" "0" "c.10036T>C" "r.(?)" "p.(Cys3346Arg)" "60" "0000087603" "00000115" "10" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Pro739Leu)" "22" "0000087604" "00000115" "10" "5825" "0" "5825" "0" "c.5825A>G" "r.(?)" "p.(Asp1942Gly)" "36" "0000087605" "00000115" "10" "8063" "0" "8063" "0" "c.8063G>T" "r.(?)" "p.(Cys2688Phe)" "50" "0000087606" "00000115" "70" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Ala17Val)" "2" "0000087607" "00000115" "70" "10865" "0" "10865" "0" "c.10865G>A" "r.(?)" "p.(Cys3622Tyr)" "61" "0000087608" "00000115" "90" "5600" "0" "5600" "0" "c.5600G>A" "r.(?)" "p.(Ser1867Asn)" "34" "0000087609" "00000115" "90" "9530" "0" "9530" "0" "c.9530T>C" "r.(?)" "p.(Ile3177Thr)" "58" "0000087610" "00000115" "90" "2414" "0" "2414" "0" "c.2414C>T" "r.(?)" "p.(Pro805Leu)" "24" "0000087611" "00000115" "90" "10505" "0" "10505" "0" "c.10505A>T" "r.(?)" "p.(Glu3502Val)" "61" "0000087612" "00000115" "90" "5513" "0" "5513" "0" "c.5513A>G" "r.(?)" "p.(Tyr1838Cys)" "34" "0000087613" "00000115" "90" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Ser1833Leu)" "34" "0000087614" "00000115" "90" "8606" "0" "8606" "0" "c.8606C>A" "r.(?)" "p.(Thr2869Lys)" "55" "0000087615" "00000115" "90" "6996" "4" "6996" "4" "c.6996+4A>T" "r.(spl?)" "p.?" "43i" "0000087616" "00000115" "90" "9689" "0" "9689" "0" "c.9689del" "r.(?)" "p.(Asp3230Valfs*34)" "58" "0000087617" "00000115" "90" "10856" "0" "10856" "0" "c.10856del" "r.(?)" "p.(Lys3619Serfs*7)" "61" "0000087618" "00000115" "90" "10364" "0" "10364" "0" "c.10364del" "r.(?)" "p.(Ser3455*)" "61" "0000087619" "00000115" "90" "383" "0" "383" "0" "c.383del" "r.(?)" 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"p.(Val2771Ile)" "53" "0000087680" "00000115" "10" "5353" "0" "5353" "0" "c.5353T>C" "r.(?)" "p.(Phe1785Leu)" "33" "0000087681" "00000115" "30" "274" "0" "274" "0" "c.274C>G" "r.(?)" "p.(Arg92Gly)" "4" "0000087682" "00000115" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Arg)" "5" "0000087683" "00000115" "70" "8899" "0" "8899" "0" "c.8899G>T" "r.(?)" "p.(Gly2967Trp)" "57" "0000087684" "00000115" "90" "5230" "0" "5230" "0" "c.5230A>C" "r.(?)" "p.(Asn1744His)" "32" "0000087685" "00000115" "90" "5878" "0" "5878" "0" "c.5878A>G" "r.(?)" "p.(Thr1960Ala)" "36" "0000087686" "00000115" "90" "6418" "0" "6418" "0" "c.6418A>C" "r.(?)" "p.(Thr2140Pro)" "39" "0000087687" "00000115" "90" "9625" "0" "9625" "0" "c.9625A>C" "r.(?)" "p.(Ser3209Arg)" "58" "0000087688" "00000115" "90" "11218" "0" "11218" "0" "c.11218C>T" "r.(?)" "p.(Pro3740Ser)" "62" "0000087689" "00000115" "90" "9289" "0" "9289" "0" "c.9289G>A" "r.(?)" "p.(Ala3097Thr)" "58" "0000087690" "00000115" "90" "5236" "0" "5236" "0" "c.5236G>C" "r.(?)" "p.(Gly1746Arg)" "32" "0000087691" "00000115" "90" "9532" "0" "9532" "0" "c.9532G>T" "r.(?)" "p.(Gly3178Cys)" "58" "0000087692" "00000115" "90" "2593" "0" "2593" "0" "c.2593G>T" "r.(?)" "p.(Val865Phe)" "25" "0000087693" "00000115" "90" "4291" "0" "4291" "0" "c.4291T>A" "r.(?)" "p.(Cys1431Ser)" "32" "0000087694" "00000115" "90" "3228" "1" "3228" "1" "c.3228+1G>T" "r.spl" "p.?" "28i" "0000087695" "00000115" "90" "5323" "0" "5323" "0" "c.5323C>T" "r.(?)" "p.(Arg1775*)" "33" "0000087696" "00000115" "10" "5768" "0" "5768" "0" "c.5768A>T" "r.(?)" "p.(Gln1923Leu)" "36" "0000087697" "00000115" "10" "8492" "0" "8492" "0" "c.8492G>A" "r.(?)" "p.(Arg2831Lys)" "54" "0000087698" "00000115" "10" "6239" "0" "6239" "0" "c.6239G>A" "r.(?)" "p.(Ser2080Asn)" "38" "0000087699" "00000115" "10" "10925" "0" "10925" "0" "c.10925T>C" "r.(?)" "p.(Met3642Thr)" "61" "0000087700" "00000115" "10" "9086" "0" "9086" "0" "c.9086A>C" "r.(?)" "p.(His3029Pro)" "58" "0000087701" "00000115" "10" "2747" "0" "2747" "0" "c.2747A>C" "r.(?)" "p.(His916Pro)" "26" "0000087702" "00000115" "10" "9719" "0" "9719" "0" "c.9719G>A" "r.(?)" "p.(Arg3240Gln)" "58" "0000087703" "00000115" "10" "2777" "0" "2777" "0" "c.2777T>C" "r.(?)" "p.(Leu926Pro)" "26" "0000087704" "00000115" "10" "5585" "0" "5585" "0" "c.5585C>T" "r.(?)" "p.(Ser1862Leu)" "34" "0000087705" "00000115" "10" "5360" "0" "5360" "0" "c.5360G>T" "r.(?)" "p.(Cys1787Phe)" "33" "0000087706" "00000115" "30" "1397" "0" "1397" "0" "c.1397G>C" "r.(?)" "p.(Gly466Ala)" "16" "0000087707" "00000115" "70" "4205" "0" "4205" "0" "c.4205G>T" "r.(?)" "p.(Cys1402Phe)" "32" "0000087708" "00000115" "70" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Phe129Ser)" "5" "0000087709" "00000115" "90" "5060" "0" "5060" "0" "c.5060T>C" "r.(?)" 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"p.(Gln2010Argfs*23)" "37" "0000087730" "00000115" "90" "8651" "0" "8653" "0" "c.8651_8653del" "r.(?)" "p.(Val2884del)" "56" "0000087731" "00000115" "90" "5761" "0" "5765" "0" "c.5761_5765del" "r.(?)" "p.(Ser1921Thrfs*15)" "36" "0000087732" "00000115" "90" "391" "-5" "391" "-5" "c.391-5A>G" "r.(spl?)" "p.?" "5i" "0000087733" "00000115" "90" "5381" "-2" "5381" "-2" "c.5381-2A>C" "r.spl" "p.?" "33i" "0000087734" "00000115" "90" "881" "-1" "881" "-1" "c.881-1G>A" "r.spl" "p.?" "12i" "0000087735" "00000115" "90" "5237" "-1" "5237" "-1" "c.5237-1G>A" "r.spl" "p.?" "32i" "0000087736" "00000115" "90" "7912" "-1" "7912" "-1" "c.7912-1G>C" "r.spl" "p.?" "49i" "0000087737" "00000115" "10" "8518" "0" "8518" "0" "c.8518C>T" "r.(?)" "p.(Arg2840Cys)" "54" "0000087738" "00000115" "10" "8521" "0" "8521" "0" "c.8521A>G" "r.(?)" "p.(Met2841Val)" "54" "0000087739" "00000115" "10" "8737" "0" "8737" "0" "c.8737G>A" "r.(?)" "p.(Val2913Met)" "56" "0000087740" "00000115" "30" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "15" "0000087741" "00000115" "30" "5410" "0" "5410" "0" "c.5410C>T" "r.(?)" "p.(Arg1804Cys)" "34" "0000087742" "00000115" "30" "4039" "0" "4039" "0" "c.4039G>A" "r.(?)" "p.(Val1347Met)" "32" "0000087743" "00000115" "70" "11611" "0" "11611" "0" "c.11611T>C" "r.(?)" "p.(Trp3871Arg)" "65" "0000087744" "00000115" "70" "11737" "0" "11737" "0" "c.11737C>T" "r.(?)" "p.(Arg3913Cys)" "66" "0000087745" "00000115" "70" "8788" "0" "8788" "0" "c.8788C>T" "r.(?)" "p.(Arg2930Trp)" "56" "0000087746" "00000115" "90" "5236" "0" "5236" "0" "c.5236G>A" "r.(?)" "p.(Gly1746Ser)" "32" "0000087747" "00000115" "90" "8425" "0" "8425" "0" "c.8425G>A" "r.(?)" "p.(Gly2809Arg)" "53" "0000087748" "00000115" "90" "10666" "0" "10666" "0" "c.10666C>T" "r.(?)" "p.(Arg3556Cys)" "61" "0000087749" "00000115" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "5" "0000087750" "00000115" "90" "11524" "0" "11524" "0" "c.11524C>T" "r.(?)" "p.(Arg3842*)" "65" "0000087751" "00000115" "90" "1774" "0" "1774" "0" "c.1774C>T" "r.(?)" "p.(Arg592*)" "19" "0000087752" "00000115" "90" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781*)" "23" "0000087753" "00000115" "10" "9719" "0" "9719" "0" "c.9719G>T" "r.(?)" "p.(Arg3240Leu)" "58" "0000087754" "00000115" "10" "4139" "0" "4139" "0" "c.4139T>C" "r.(?)" "p.(Val1380Ala)" "32" "0000087755" "00000115" "30" "9998" "0" "9998" "0" "c.9998G>C" "r.(?)" "p.(Arg3333Thr)" "59" "0000087756" "00000115" "30" "10805" "0" "10805" "0" "c.10805C>T" "r.(?)" "p.(Pro3602Leu)" "61" "0000087757" "00000115" "30" "9215" "0" "9215" "0" "c.9215C>T" "r.(?)" "p.(Ala3072Val)" "58" "0000087758" "00000115" "70" "410" "0" "410" "0" "c.410C>G" "r.(?)" "p.(Pro137Arg)" "6" "0000087759" "00000115" "70" "806" "0" "806" "0" "c.806G>T" "r.(?)" "p.(Gly269Val)" "12" "0000087760" "00000115" "70" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Gly470Asp)" "16" "0000087761" "00000115" "70" "5387" "0" "5387" "0" "c.5387T>C" "r.(?)" "p.(Leu1796Ser)" "34" "0000087762" "00000115" "90" "1880" "0" "1880" "0" "c.1880T>A" "r.(?)" "p.(Met627Lys)" "20" "0000087763" "00000115" "90" "9725" "0" "9725" "0" "c.9725G>T" "r.(?)" "p.(Gly3242Val)" "58" "0000087764" "00000115" "90" "9311" "0" "9311" "0" "c.9311T>G" "r.(?)" "p.(Phe3104Cys)" "58" "0000087765" "00000115" "90" "10319" "0" "10319" "0" "c.10319T>A" "r.(?)" "p.(Val3440Asp)" "61" "0000087766" "00000115" "90" "976" "2" "976" "2" "c.976+2T>A" "r.spl" "p.?" "13i" "0000087767" "00000115" "90" "6490" "2" "6490" "2" "c.6490+2T>C" "r.spl" "p.?" "39i" "0000087768" "00000115" "90" "3848" "0" "3848" "0" "c.3848C>A" "r.(?)" "p.(Ser1283*)" "32" "0000087769" "00000115" "10" "10926" "0" "10926" "0" "c.10926G>A" "r.(?)" "p.(Met3642Ile)" "61" "0000087770" "00000115" "70" "783" "0" "783" "0" "c.783A>G" "r.(?)" "p.(Ile261Met)" "12" "0000087771" "00000115" "90" "5751" "3" "5751" "3" "c.5751+3A>G" "r.(spl?)" "p.?" "35i" "0000087772" "00000115" "90" "8302" "3" "8302" "3" "c.8302+3G>C" "r.(spl?)" "p.?" "52i" "0000087773" "00000115" "90" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Trp404*)" "15" "0000087774" "00000115" "90" "4415" "0" "4418" "0" "c.4415_4418delinsTATTCCCCTCT" "r.(?)" "p.(Cys1472Leufs*36)" "32" "0000087775" "00000115" "90" "2180" "0" "2180" "0" "c.2180dup" "r.(?)" "p.(Asn727Lysfs*39)" "22" "0000087776" "00000115" "90" "3528" "0" "3528" "0" "c.3528dup" "r.(?)" "p.(Ser1177Leufs*13)" "30" "0000087777" "00000115" "90" "6653" "0" "6660" "0" "c.6653_6660dup" "r.(?)" "p.(Thr2221Alafs*9)" "40" "0000087778" "00000115" "90" "6121" "3" "6121" "4" "c.6121+3_6121+4insT" "r.spl?" "p.?" "37i" "0000087779" "00000115" "90" "1854" "0" "1854" "0" "c.1854del" "r.(?)" "p.(Gly619Alafs*3)" "20" "0000087780" "00000115" "90" "2520" "0" "2526" "0" "c.2520_2526del" "r.(?)" "p.(Tyr841Alafs*31)" "24" "0000087781" "00000115" "90" "8114" "0" "8114" "0" "c.8114del" "r.(?)" "p.(Gly2705Valfs*11)" "51" "0000087782" "00000115" "90" "5582" "0" "5582" "0" "c.5582del" "r.(?)" "p.(Phe1861Serfs*113)" "34" "0000087783" "00000115" "90" "7351" "-2" "7351" "-2" "c.7351-2A>T" "r.spl" "p.?" "46i" "0000087784" "00000115" "90" "528" "-2" "528" "-2" "c.528-2A>G" "r.spl" "p.?" "7i" "0000087785" "00000115" "10" "8317" "0" "8317" "0" "c.8317G>T" "r.(?)" "p.(Val2773Leu)" "53" "0000087786" "00000115" "30" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Leu252Phe)" "11" "0000087787" "00000115" "30" "8893" "0" "8893" "0" "c.8893T>C" "r.(?)" "p.(Cys2965Arg)" "57" "0000087788" "00000115" "70" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Glu218Lys)" "9" "0000087789" "00000115" "70" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375Trp)" "15" "0000087790" "00000115" "90" "11284" "0" "11284" "0" "c.11284C>A" "r.(?)" "p.(Pro3762Thr)" "62" "0000087791" "00000115" "90" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Gly952Arg)" "27" "0000087792" "00000115" "90" "1233" "1" "1233" "1" "c.1233+1G>A" "r.spl" "p.?" "15i" "0000087793" "00000115" "90" "4330" "0" "4330" "0" "c.4330C>T" "r.(?)" "p.(Gln1444*)" "32" "0000087794" "00000115" "10" "5723" "0" "5723" "0" "c.5723T>C" "r.(?)" "p.(Ile1908Thr)" "35" "0000087795" "00000115" "10" "5750" "0" "5750" "0" "c.5750A>C" "r.(?)" "p.(Gln1917Pro)" "35" "0000087796" "00000115" "10" "2180" "0" "2180" "0" "c.2180A>G" "r.(?)" "p.(Asn727Ser)" "22" "0000087797" "00000115" "90" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Thr979Ile)" "27" "0000087798" "00000115" "90" "10664" "0" "10664" "0" "c.10664T>A" "r.(?)" "p.(Ile3555Lys)" "61" "0000087799" "00000115" "90" "10226" "0" "10226" "0" "c.10226A>T" "r.(?)" "p.(Asp3409Val)" "61" "0000087800" "00000115" "90" "4955" "0" "4955" "0" "c.4955A>G" "r.(?)" "p.(Tyr1652Cys)" "32" "0000087801" "00000115" "90" "4838" "0" "4838" "0" "c.4838G>A" "r.(?)" "p.(Cys1613Tyr)" "32" "0000087802" "00000115" "90" "8312" "0" "8312" "0" "c.8312T>A" "r.(?)" "p.(Val2771Asp)" "53" "0000087803" "00000115" "90" "8302" "2" "8302" "2" "c.8302+2T>C" "r.spl" "p.?" "52i" "0000087804" "00000115" "90" "9683" "0" "9683" "0" "c.9683C>A" "r.(?)" "p.(Ser3228*)" "58" "0000087805" "00000115" "90" "10031" "0" "10031" "0" "c.10031T>G" "r.(?)" "p.(Leu3344*)" "60" "0000087806" "00000115" "90" "9765" "0" "9765" "0" "c.9765G>A" "r.(?)" "p.(Trp3255*)" "58" "0000087807" "00000115" "90" "11408" "0" "11408" "0" "c.11408dup" "r.(?)" "p.(Ala3804Glyfs*9)" "64" "0000087808" "00000115" "90" "11538" "0" "11538" "0" "c.11538dup" "r.(?)" "p.(Ala3847Cysfs*7)" "65" "0000087809" "00000115" "90" "8579" "0" "8583" "0" "c.8579_8583del" "r.(?)" "p.(Tyr2860Cysfs*4)" "55" "0000087810" "00000115" "90" "4" "0" "11" "0" "c.4_11del" "r.(?)" "p.(Thr2Alafs*8)" "2" "0000087811" "00000115" "90" "9348" "0" "9348" "0" "c.9348del" "r.(?)" "p.(Leu3117Phefs*45)" "58" "0000087812" "00000115" "90" "4537" "0" "4554" "0" "c.4537_4554del" "r.(?)" "p.(Ala1513_Val1518del)" "32" "0000087813" "00000115" "90" "2812" "0" "2813" "0" "c.2812_2813del" "r.(?)" "p.(Tyr938Leufs*3)" "26" "0000087814" "00000115" "10" "6652" "0" "6652" "0" "c.6652A>T" "r.(?)" "p.(Ser2218Cys)" "40" "0000087815" "00000115" "10" "10909" "0" "10909" "0" "c.10909C>T" "r.(?)" "p.(Arg3637Cys)" "61" "0000087816" "00000115" "90" "6097" "0" "6097" "0" "c.6097A>G" "r.(?)" "p.(Arg2033Gly)" "37" "0000087817" "00000115" "30" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Tyr143Cys)" "6" "0000087818" "00000115" "70" "12200" "0" "12200" "0" "c.12200C>T" "r.(?)" "p.(Pro4067Leu)" "67" "0000087819" "00000115" "90" "5963" "0" "5963" "0" "c.5963T>C" "r.(?)" "p.(Ile1988Thr)" "37" "0000087820" "00000115" "90" "53" "-3" "53" "-3" "c.53-3C>A" "r.(spl?)" "p.?" "2i" "0000087821" "00000115" "70" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Leu400Ser)" "15" "0000087822" "00000115" "90" "7350" "653" "7350" "653" "c.7350+653A>G" "r.spl" "p.(=)" "46i" "0000087823" "00000115" "90" "4882" "0" "4882" "0" "c.4882C>G" "r.(?)" "p.(Pro1628Ala)" "32" "0000087824" "00000115" "90" "5075" "0" "5075" "0" "c.5075G>A" "r.(?)" "p.(Cys1692Tyr)" "32" "0000087825" "00000115" "10" "2057" "0" "2057" "0" "c.2057A>C" "r.(?)" "p.(His686Pro)" "21" "0000087826" "00000115" "10" "7292" "0" "7292" "0" "c.7292A>T" "r.(?)" "p.(Glu2431Val)" "46" "0000087827" "00000115" "10" "8407" "0" "8407" "0" "c.8407T>C" "r.(?)" "p.(Cys2803Arg)" "53" "0000087828" "00000115" "10" "7264" "0" "7264" "0" "c.7264T>C" "r.(?)" "p.(Cys2422Arg)" "46" "0000087829" "00000115" "10" "9146" "0" "9146" "0" "c.9146A>G" "r.(?)" "p.(His3049Arg)" "58" "0000087830" "00000115" "10" "2171" "0" "2171" "0" "c.2171C>G" "r.(?)" "p.(Pro724Arg)" "22" "0000087831" "00000115" "30" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Ala293Val)" "12" "0000087832" "00000115" "30" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Gly466Glu)" "16" "0000087833" "00000115" "30" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Ile246Thr)" "11" "0000087834" "00000115" "70" "11869" "0" "11869" "0" "c.11869C>T" "r.(?)" "p.(Arg3957Cys)" "67" "0000087835" "00000115" "70" "1409" "0" "1409" "0" "c.1409G>T" "r.(?)" "p.(Gly470Val)" "16" "0000087836" "00000115" "70" "5450" "0" "5450" "0" "c.5450T>G" "r.(?)" "p.(Val1817Gly)" "34" "0000087837" "00000115" "70" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Tyr255Cys)" "11" "0000087838" "00000115" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "4" "0000087839" "00000115" "90" "5134" "0" "5134" "0" "c.5134G>A" "r.(?)" "p.(Gly1712Arg)" "32" "0000087840" "00000115" "90" "8411" "0" "8411" "0" "c.8411T>A" "r.(?)" "p.(Met2804Lys)" "53" "0000087841" "00000115" "90" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Ile539Thr)" "18" "0000087842" "00000115" "90" "7717" "0" "7717" "0" "c.7717C>T" "r.(?)" "p.(Arg2573Cys)" "48" "0000087843" "00000115" "90" "6317" "0" "6317" "0" "c.6317T>G" "r.(?)" "p.(Leu2106Arg)" "38" "0000087844" "00000115" "90" "6025" "0" "6025" "0" "c.6025G>A" "r.(?)" "p.(Ala2009Thr)" "37" "0000087845" "00000115" "90" "6670" "0" "6670" "0" "c.6670G>C" "r.(?)" "p.(Gly2224Arg)" "40" "0000087846" "00000115" "90" "6629" "0" "6629" "0" "c.6629G>A" "r.(?)" "p.(Gly2210Glu)" "40" "0000087847" "00000115" "90" "8393" "0" "8393" "0" "c.8393T>G" "r.(?)" "p.(Val2798Gly)" "53" "0000087848" "00000115" "90" "5783" "0" "5783" "0" "c.5783G>T" "r.(?)" "p.(Trp1928Leu)" "36" "0000087849" "00000115" "90" "9619" "0" "9619" "0" "c.9619G>A" "r.(?)" "p.(Ala3207Thr)" "58" "0000087850" "00000115" "90" "5624" "0" "5624" "0" "c.5624T>G" "r.(?)" "p.(Val1875Gly)" "35" "0000087851" "00000115" "90" "1458" "0" "1458" "0" "c.1458C>A" "r.(?)" "p.(Tyr486*)" "16" "0000087852" "00000115" "90" "8246" "0" "8247" "0" "c.8246_8247inv" "r.(?)" "p.(Trp2749Ser)" "52" "0000087853" "00000115" "90" "9051" "0" "9053" "0" "c.9051_9053del" "r.(?)" "p.(Ser3018del)" "58" "0000087854" "00000115" "90" "7544" "0" "7544" "0" "c.7544del" "r.(?)" "p.(Ala2515Aspfs*64)" "48" "0000087855" "00000115" "90" "10136" "0" "10136" "0" "c.10136del" "r.(?)" "p.(Thr3379Metfs*21)" "60" "0000087856" "00000115" "90" "3766" "0" "3766" "0" "c.3766del" "r.(?)" "p.(Gln1256Argfs*47)" "32" "0000087857" "00000115" "90" "10955" "0" "10955" "0" "c.10955del" "r.(?)" "p.(Pro3652Glnfs*2)" "61" "0000087858" "00000115" "90" "9104" "0" "9104" "0" "c.9104del" "r.(?)" "p.(Gly3035Glufs*4)" "58" "0000087859" "00000115" "90" "7122" "0" "7122" "0" "c.7122del" "r.(?)" "p.(Phe2374Leufs*41)" "45" "0000087860" "00000115" "90" "10628" "0" "10635" "0" "c.10628_10635del" "r.(?)" "p.(Leu3543Cysfs*9)" "61" "0000087861" "00000115" "90" "8909" "0" "8912" "0" "c.8909_8912del" "r.(?)" "p.(Phe2970Trpfs*68)" "57" "0000087862" "00000115" "90" "6655" "0" "6656" "0" "c.6655_6656delinsCT" "r.(?)" "p.(Ser2219Leu)" "40" "0000087863" "00000115" "90" "7734" "-2" "7734" "-2" "c.7734-2A>G" "r.spl" "p.?" "48i" "0000087864" "00000115" "90" "2141" "-1" "2141" "-1" "c.2141-1G>T" "r.spl" "p.?" "21i" "0000087865" "00000115" "10" "3899" "0" "3899" "0" "c.3899C>A" "r.(?)" "p.(Thr1300Lys)" "32" "0000087866" "00000115" "10" "7108" "0" "7108" "0" "c.7108A>G" "r.(?)" "p.(Arg2370Gly)" "44" "0000087867" "00000115" "30" "673" "0" "673" "0" "c.673C>G" "r.(?)" "p.(Gln225Glu)" "10" "0000087868" "00000115" "30" "3812" "0" "3812" "0" "c.3812T>A" "r.(?)" "p.(Val1271Asp)" "32" "0000087869" "00000115" "30" "5447" "0" "5447" "0" "c.5447A>G" "r.(?)" "p.(Tyr1816Cys)" "34" "0000087870" "00000115" "70" "1160" "0" "1160" "0" "c.1160A>T" "r.(?)" "p.(Asn387Ile)" "15" "0000087871" "00000115" "70" "5372" "0" "5372" "0" "c.5372C>T" "r.(?)" "p.(Pro1791Leu)" "33" "0000087872" "00000115" "70" "982" "0" "982" "0" "c.982C>G" "r.(?)" "p.(Arg328Gly)" "14" "0000087873" "00000115" "90" "5599" "0" "5599" "0" "c.5599A>G" "r.(?)" "p.(Ser1867Gly)" "34" "0000087874" "00000115" "90" "9461" "0" "9461" "0" "c.9461A>G" "r.(?)" "p.(Asp3154Gly)" "58" "0000087875" "00000115" "90" "1751" "0" "1751" "0" "c.1751G>T" "r.(?)" "p.(Gly584Val)" "19" "0000087876" "00000115" "90" "7912" "0" "7912" "0" "c.7912T>A" "r.(?)" "p.(Tyr2638Asn)" "50" "0000087877" "00000115" "90" "2542" "0" "2542" "0" "c.2542T>A" "r.(?)" "p.(Trp848Arg)" "24" "0000087878" "00000115" "90" "8206" "0" "8206" "0" "c.8206T>G" "r.(?)" "p.(Trp2736Gly)" "52" "0000087879" "00000115" "90" "5485" "0" "5485" "0" "c.5485C>T" "r.(?)" "p.(Gln1829*)" "34" "0000087880" "00000115" "90" "7177" "0" "7177" "0" "c.7177C>T" "r.(?)" "p.(Gln2393*)" "45" "0000087881" "00000115" "90" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Gln353*)" "14" "0000087882" "00000115" "90" "3118" "0" "3118" "0" "c.3118C>T" "r.(?)" "p.(Arg1040*)" "28" "0000087883" "00000115" "90" "8824" "0" "8824" "0" "c.8824C>T" "r.(?)" "p.(Arg2942*)" "57" "0000087884" "00000115" "90" "8935" "0" "8935" "0" "c.8935C>T" "r.(?)" "p.(Arg2979*)" "57" "0000087885" "00000115" "90" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564*)" "18" "0000087886" "00000115" "90" "2532" "0" "2532" "0" "c.2532C>A" "r.(?)" "p.(Tyr844*)" "24" "0000087887" "00000115" "90" "1830" "0" "1830" "0" "c.1830T>A" "r.(?)" "p.(Tyr610*)" "19" "0000087888" "00000115" "90" "7916" "0" "7916" "0" "c.7916C>A" "r.(?)" "p.(Ser2639*)" "50" "0000087889" "00000115" "90" "1095" "0" "1095" "0" "c.1095G>A" "r.(?)" "p.(Trp365*)" "14" "0000087890" "00000115" "90" "3334" "0" "3336" "0" "c.3334_3336delins(8)" "r.(?)" "p.(Thr1112Aspfs*4)" "29" "0000087891" "00000115" "90" "11339" "0" "11339" "0" "c.11339dup" "r.(?)" "p.(Ser3781Phefs*32)" "63" "0000087892" "00000115" "90" "1487" "0" "1492" "0" "c.1487_1492dup" "r.(?)" "p.(Arg496_Ala497dup)" "16" "0000087893" "00000115" "90" "6367" "0" "6368" "0" "c.6367_6368ins(17)" "r.(?)" "p.(Gly2123Glufs*25)" "39" "0000087894" "00000115" "90" "9707" "0" "9707" "0" "c.9707del" "r.(?)" "p.(Pro3236Glnfs*28)" "58" "0000087895" "00000115" "90" "8901" "0" "8901" "0" "c.8901del" "r.(?)" "p.(Arg2968Aspfs*71)" "57" "0000087896" "00000115" "90" "6929" "0" "6929" "0" "c.6929del" "r.(?)" "p.(Gly2310Aspfs*8)" "43" "0000087897" "00000115" "90" "7" "0" "19" "0" "c.7_19del" "r.(?)" "p.(Ala3Leufs*2)" "2" "0000087898" "00000115" "90" "5646" "0" "5646" "0" "c.5646del" "r.(?)" "p.(Cys1882*)" "35" "0000087899" "00000115" "90" "12186" "0" "12186" "0" "c.12186del" "r.(?)" "p.(His4063Ilefs*22)" "67" "0000087900" "00000115" "90" "5375" "0" "5375" "0" "c.5375del" "r.(?)" "p.(Leu1792Argfs*11)" "33" "0000087901" "00000115" "90" "6296" "0" "6297" "0" "c.6296_6297del" "r.(?)" "p.(Val2099Alafs*8)" "38" "0000087902" "00000115" "90" "9183" "0" "9186" "0" "c.9183_9186delins(14)" "r.(?)" "p.(Asn3062Leufs*57)" "58" "0000087903" "00000115" "10" "8312" "0" "8312" "0" "c.8312T>C" "r.(?)" "p.(Val2771Ala)" "53" "0000087904" "00000115" "10" "1877" "0" "1877" "0" "c.1877A>G" "r.(?)" "p.(Lys626Arg)" "20" "0000087905" "00000115" "70" "757" "0" "757" "0" "c.757T>C" "r.(?)" "p.(Phe253Leu)" "11" "0000087906" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "32" "0000087907" "00000115" "70" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Ile222Val)" "" "0000087908" "00000115" "70" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" "p.(Arg760His)" "22" "0000087909" "00000115" "90" "3761" "0" "3762" "0" "c.3761_3762delinsG" "r.(?)" "p.(Ala1254Glyfs*49)" "32" "0000087910" "00000115" "90" "8829" "0" "8829" "0" "c.8829dup" "r.(?)" "p.(Ile2944Hisfs*6)" "57" "0000087911" "00000115" "90" "1623" "0" "1626" "0" "c.1623_1626dup" "r.(?)" "p.(Leu543Valfs*14)" "18" "0000087912" "00000115" "90" "711" "0" "714" "0" "c.711_714del" "r.(?)" "p.(Met238Serfs*7)" "11" "0000130032" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000248193" "00000115" "10" "11340" "0" "11340" "0" "c.11340T>C" "r.(?)" "p.(Pro3780=)" "" "0000248580" "00000115" "10" "1587" "0" "1587" "0" "c.1587T>C" "r.(?)" "p.(Asn529=)" "" "0000248581" "00000115" "10" "1185" "0" "1185" "0" "c.1185T>C" "r.(?)" "p.(Asp395=)" "" "0000248822" "00000115" "10" "5608" "0" "5608" "0" "c.5608T>G" "r.(?)" "p.(Leu1870Val)" "" "0000249100" "00000115" "10" "8302" "12" "8302" "12" "c.8302+12T>A" "r.(=)" "p.(=)" "" "0000249682" "00000115" "90" "10412" "0" "10412" "0" "c.10412T>G" "r.(?)" "p.(Val3471Gly)" "" "0000250896" "00000115" "10" "11340" "0" "11340" "0" "c.11340T>C" "r.(?)" "p.(Pro3780=)" "" "0000251097" "00000115" "10" "11714" "0" "11714" "0" "c.11714T>A" "r.(?)" "p.(Ile3905Asn)" "" "0000251389" "00000115" "10" "9829" "10" "9829" "10" "c.9829+10T>G" "r.(=)" "p.(=)" "" "0000252517" "00000115" "90" "6992" "0" "6992" "0" "c.6992T>A" "r.(?)" "p.(Ile2331Lys)" "" "0000255946" "00000115" "50" "847" "0" "847" "0" "c.847T>C" "r.(?)" "p.(Phe283Leu)" "" "0000296990" "00000115" "10" "10156" "22411" "10156" "22411" "c.10156+22411G>A" "r.(=)" "p.(=)" "" "0000296991" "00000115" "10" "10156" "22412" "10156" "22412" "c.10156+22412C>T" "r.(=)" "p.(=)" "" "0000296992" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000296993" "00000115" "10" "12143" "0" "12143" "0" "c.12143A>G" "r.(?)" "p.(Gln4048Arg)" "" "0000296994" "00000115" "90" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Ter)" "" "0000296995" "00000115" "10" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Thr579Met)" "" "0000296996" "00000115" "10" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "" "0000296997" "00000115" "10" "2489" "0" "2489" "0" "c.2489A>G" "r.(?)" "p.(Asn830Ser)" "" "0000296998" "00000115" "30" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "" "0000296999" "00000115" "90" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Ser118IlefsTer35)" "" "0000297000" "00000115" "10" "3785" "0" "3785" "0" "c.3785C>T" "r.(?)" "p.(Ala1262Val)" "" "0000297002" "00000115" "10" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Leu1966=)" "" "0000297003" "00000115" "10" "7587" "0" "7587" "0" "c.7587G>A" "r.(?)" "p.(Gly2529=)" "" "0000297004" "00000115" "50" "8788" "0" "8788" "0" "c.8788C>T" "r.(?)" "p.(Arg2930Trp)" "" "0000297005" "00000115" "10" "8798" "-19" "8798" "-19" "c.8798-19A>C" "r.(=)" "p.(=)" "" "0000297006" "00000115" "90" "9689" "0" "9689" "0" "c.9689del" "r.(?)" "p.(Asp3230ValfsTer34)" "" "0000298879" "00000115" "90" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781Ter)" "" "0000300837" "00000115" "10" "10515" "0" "10515" "0" "c.10515C>A" "r.(?)" "p.(Ser3505Arg)" "" "0000300838" "00000115" "90" "10765" "0" "10765" "0" "c.10765C>T" "r.(?)" "p.(Gln3589Ter)" "" "0000300839" "00000115" "90" "11074" "0" "11074" "0" "c.11074C>T" "r.(?)" "p.(Arg3692Ter)" "" "0000300840" "00000115" "10" "11174" "11" "11174" "11" "c.11174+11A>G" "r.(=)" "p.(=)" "" "0000300841" "00000115" "10" "11525" "0" "11525" "0" "c.11525G>T" "r.(?)" "p.(Arg3842Leu)" "" "0000300842" "00000115" "10" "11878" "0" "11878" "0" "c.11878G>A" "r.(?)" "p.(Val3960Ile)" "" "0000300843" "00000115" "70" "1436" "0" "1436" "0" "c.1436A>T" "r.(?)" "p.(Asn479Ile)" "" "0000300844" "00000115" "10" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Thr579Met)" "" "0000300845" "00000115" "90" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781Ter)" "" "0000300846" "00000115" "10" "2489" "0" "2489" "0" "c.2489A>G" "r.(?)" "p.(Asn830Ser)" "" "0000300847" "00000115" "10" "3097" "15" "3097" "15" "c.3097+15G>T" "r.(=)" "p.(=)" "" "0000300848" "00000115" "30" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "" "0000300849" "00000115" "10" "3686" "0" "3686" "0" "c.3686G>C" "r.(?)" "p.(Trp1229Ser)" "" "0000300850" "00000115" "10" "4844" "0" "4844" "0" "c.4844C>T" "r.(?)" "p.(Thr1615Met)" "" "0000300851" "00000115" "10" "5236" "14" "5236" "14" "c.5236+14A>G" "r.(=)" "p.(=)" "" "0000300852" "00000115" "10" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Leu1966=)" "" "0000300853" "00000115" "10" "6333" "-8" "6333" "-7" "c.6333-8_6333-7del" "r.(=)" "p.(=)" "" "0000300854" "00000115" "10" "7307" "0" "7307" "0" "c.7307C>T" "r.(?)" "p.(Thr2436Ile)" "" "0000300855" "00000115" "10" "779" "-10" "779" "-10" "c.779-10del" "r.(=)" "p.(=)" "" "0000300856" "00000115" "10" "779" "-12" "779" "-12" "c.779-12dup" "r.(=)" "p.(=)" "" "0000300858" "00000115" "30" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "" "0000300859" "00000115" "10" "9577" "0" "9577" "0" "c.9577G>A" "r.(?)" "p.(Val3193Ile)" "" "0000305746" "00000115" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "" "0000305747" "00000115" "50" "1421" "0" "1421" "0" "c.1421A>T" "r.(?)" "p.(His474Leu)" "" "0000305748" "00000115" "30" "2093" "0" "2093" "0" "c.2093G>A" "r.(?)" "p.(Gly698Asp)" "" "0000305749" "00000115" "30" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000305750" "00000115" "30" "3183" "0" "3183" "0" "c.3183C>T" "r.(?)" "p.(Val1061=)" "" "0000305751" "00000115" "90" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Ser118IlefsTer35)" "" "0000305752" "00000115" "30" "3783" "0" "3783" "0" "c.3783C>T" "r.(?)" "p.(Gly1261=)" "" "0000305753" "00000115" "30" "4920" "0" "4920" "0" "c.4920A>G" "r.(?)" "p.(Val1640=)" "" "0000305754" "00000115" "50" "5615" "0" "5615" "0" "c.5615G>C" "r.(?)" "p.(Arg1872Thr)" "" "0000305755" "00000115" "10" "6245" "0" "6245" "0" "c.6245C>T" "r.(?)" "p.(Thr2082Ile)" "" "0000305756" "00000115" "30" "7675" "0" "7675" "0" "c.7675G>C" "r.(?)" "p.(Val2559Leu)" "" "0000305757" "00000115" "50" "7921" "0" "7921" "0" "c.7921A>G" "r.(?)" "p.(Thr2641Ala)" "" "0000305758" "00000115" "10" "8345" "0" "8345" "0" "c.8345G>C" "r.(?)" "p.(Gly2782Ala)" "" "0000305759" "00000115" "10" "8781" "0" "8781" "0" "c.8781C>G" "r.(?)" "p.(Leu2927=)" "" "0000305760" "00000115" "30" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "" "0000305761" "00000115" "50" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(His3160Tyr)" "" "0000305762" "00000115" "30" "9714" "0" "9714" "0" "c.9714A>G" "r.(?)" "p.(Gly3238=)" "" "0000340726" "00000115" "10" "1185" "0" "1185" "0" "c.1185T>C" "r.(?)" "p.(Asp395=)" "" "0000340810" "00000115" "10" "10521" "0" "10521" "0" "c.10521C>T" "r.(?)" "p.(His3507=)" "" "0000342028" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000342358" "00000115" "50" "7109" "0" "7109" "0" "c.7109G>C" "r.(?)" "p.(Arg2370Thr)" "" "0000342767" "00000115" "70" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375Trp)" "" "0000343822" "00000115" "70" "2180" "0" "2180" "0" "c.2180A>G" "r.(?)" "p.(Asn727Ser)" "" "0000344068" "00000115" "50" "10619" "0" "10619" "0" "c.10619A>G" "r.(?)" "p.(Asp3540Gly)" "" "0000344775" "00000115" "90" "10219" "0" "10219" "0" "c.10219C>T" "r.(?)" "p.(Gln3407Ter)" "" "0000345993" "00000115" "50" "9716" "0" "9716" "0" "c.9716G>T" "r.(?)" "p.(Gly3239Val)" "" "0000346643" "00000115" "50" "6992" "0" "6992" "0" "c.6992T>A" "r.(?)" "p.(Ile2331Lys)" "" "0000348323" "00000115" "50" "7744" "0" "7744" "0" "c.7744C>T" "r.(?)" "p.(Pro2582Ser)" "" "0000349768" "00000115" "90" "9230" "0" "9230" "0" "c.9230G>A" "r.(?)" "p.(Trp3077Ter)" "" "0000369673" "00000115" "70" "8606" "0" "8606" "0" "c.8606C>A" "r.(?)" "p.(Thr2869Lys)" "" "0000369674" "00000115" "70" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Ser1833Leu)" "" "0000369675" "00000115" "70" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Leu1709Phe)" "" "0000369676" "00000115" "70" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Leu1709Phe)" "" "0000529034" "00000115" "10" "11878" "0" "11878" "0" "c.11878G>A" "r.(?)" "p.(Val3960Ile)" "" "0000529035" "00000115" "10" "11696" "0" "11696" "0" "c.11696A>G" "r.(?)" "p.(Gln3899Arg)" "" "0000529037" "00000115" "30" "11525" "0" "11525" "0" "c.11525G>T" "r.(?)" "p.(Arg3842Leu)" "" "0000529038" "00000115" "10" "11509" "0" "11509" "0" "c.11509G>A" "r.(?)" "p.(Val3837Ile)" "" "0000529039" "00000115" "30" "11390" "0" "11390" "0" "c.11390T>C" "r.(?)" "p.(Val3797Ala)" "" "0000529040" "00000115" "10" "11340" "0" "11340" "0" "c.11340T>C" "r.(?)" "p.(Pro3780=)" "" "0000529043" "00000115" "30" "10859" "0" "10859" "0" "c.10859G>A" "r.(?)" "p.(Arg3620His)" "" "0000529044" "00000115" "10" "10585" "0" "10585" "0" "c.10585G>C" "r.(?)" "p.(Glu3529Gln)" "" "0000529045" "00000115" "30" "10515" "0" "10515" "0" "c.10515C>A" "r.(?)" "p.(Ser3505Arg)" "" "0000529046" "00000115" "30" "10514" "0" "10514" "0" "c.10514G>A" "r.(?)" "p.(Ser3505Asn)" "" "0000529047" "00000115" "30" "10492" "0" "10492" "0" "c.10492G>A" "r.(?)" "p.(Val3498Ile)" "" "0000529048" "00000115" "50" "10444" "0" "10444" "0" "c.10444C>T" "r.(?)" "p.(Arg3482Cys)" "" "0000529049" "00000115" "30" "10210" "0" "10210" "0" "c.10210A>G" "r.(?)" "p.(Ile3404Val)" "" "0000529050" "00000115" "50" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000529051" "00000115" "30" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000529052" "00000115" "50" "9788" "0" "9788" "0" "c.9788T>C" "r.(?)" "p.(Val3263Ala)" "" "0000529053" "00000115" "10" "9577" "0" "9577" "0" "c.9577G>A" "r.(?)" "p.(Val3193Ile)" "" "0000529054" "00000115" "30" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "" "0000529055" "00000115" "30" "9269" "0" "9269" "0" "c.9269A>G" "r.(?)" "p.(Asn3090Ser)" "" "0000529056" "00000115" "30" "9268" "0" "9268" "0" "c.9268A>G" "r.(?)" "p.(Asn3090Asp)" "" "0000529057" "00000115" "30" "9042" "0" "9042" "0" "c.9042G>C" "r.(?)" "p.(Trp3014Cys)" "" "0000529058" "00000115" "10" "8606" "0" "8606" "0" "c.8606C>A" "r.(?)" "p.(Thr2869Lys)" "" "0000529059" "00000115" "30" "8581" "0" "8581" "0" "c.8581A>G" "r.(?)" "p.(Ser2861Gly)" "" "0000529060" "00000115" "30" "8521" "0" "8521" "0" "c.8521A>G" "r.(?)" "p.(Met2841Val)" "" "0000529061" "00000115" "30" "8494" "0" "8494" "0" "c.8494G>T" "r.(?)" "p.(Ala2832Ser)" "" "0000529062" "00000115" "90" "8190" "0" "8190" "0" "c.8190del" "r.(?)" "p.(Glu2731AsnfsTer4)" "" "0000529063" "00000115" "30" "8012" "0" "8012" "0" "c.8012G>C" "r.(?)" "p.(Arg2671Pro)" "" "0000529064" "00000115" "10" "7921" "0" "7921" "0" "c.7921A>G" "r.(?)" "p.(Thr2641Ala)" "" "0000529065" "00000115" "30" "7744" "0" "7744" "0" "c.7744C>T" "r.(?)" "p.(Pro2582Ser)" "" "0000529066" "00000115" "30" "6854" "0" "6854" "0" "c.6854G>A" "r.(?)" "p.(Gly2285Glu)" "" "0000529067" "00000115" "30" "6371" "0" "6371" "0" "c.6371A>G" "r.(?)" "p.(Glu2124Gly)" "" "0000529068" "00000115" "30" "6245" "0" "6245" "0" "c.6245C>T" "r.(?)" "p.(Thr2082Ile)" "" "0000529069" "00000115" "30" "6211" "0" "6211" "0" "c.6211A>C" "r.(?)" "p.(Asn2071His)" "" "0000529070" "00000115" "90" "5895" "0" "5895" "0" "c.5895dup" "r.(?)" "p.(Leu1966ThrfsTer4)" "" "0000529071" "00000115" "50" "5768" "0" "5768" "0" "c.5768A>T" "r.(?)" "p.(Gln1923Leu)" "" "0000529072" "00000115" "90" "5483" "0" "5484" "0" "c.5483_5484del" "r.(?)" "p.(Glu1828AlafsTer4)" "" "0000529073" "00000115" "50" "5476" "0" "5476" "0" "c.5476del" "r.(?)" "p.(Ala1826ArgfsTer148)" "" "0000529074" "00000115" "90" "5476" "0" "5476" "0" "c.5476del" "r.(?)" "p.(Ala1826ArgfsTer148)" "" "0000529075" "00000115" "50" "5410" "0" "5410" "0" "c.5410C>T" "r.(?)" "p.(Arg1804Cys)" "" "0000529076" "00000115" "90" "5375" "0" "5375" "0" "c.5375del" "r.(?)" "p.(Leu1792ArgfsTer11)" "" "0000529077" "00000115" "70" "5360" "0" "5360" "0" "c.5360G>T" "r.(?)" "p.(Cys1787Phe)" "" "0000529078" "00000115" "10" "5236" "14" "5236" "14" "c.5236+14A>G" "r.(=)" "p.(=)" "" "0000529079" "00000115" "30" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Leu1709Phe)" "" "0000529080" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000529081" "00000115" "50" "4705" "0" "4705" "0" "c.4705T>G" "r.(?)" "p.(Phe1569Val)" "" "0000529082" "00000115" "30" "3851" "0" "3851" "0" "c.3851C>T" "r.(?)" "p.(Pro1284Leu)" "" "0000529083" "00000115" "50" "3761" "0" "3761" "0" "c.3761C>G" "r.(?)" "p.(Ala1254Gly)" "" "0000529084" "00000115" "50" "3766" "0" "3766" "0" "c.3766del" "r.(?)" "p.(Gln1256ArgfsTer47)" "" "0000529085" "00000115" "30" "3756" "0" "3756" "0" "c.3756G>C" "r.(?)" "p.(Leu1252=)" "" "0000529086" "00000115" "10" "3686" "0" "3686" "0" "c.3686G>C" "r.(?)" "p.(Trp1229Ser)" "" "0000529087" "00000115" "30" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "" "0000529088" "00000115" "30" "3048" "0" "3048" "0" "c.3048T>C" "r.(?)" "p.(Asn1016=)" "" "0000529089" "00000115" "30" "3034" "0" "3034" "0" "c.3034G>T" "r.(?)" "p.(Asp1012Tyr)" "" "0000529091" "00000115" "30" "2638" "0" "2638" "0" "c.2638C>T" "r.(?)" "p.(Arg880Cys)" "" "0000529092" "00000115" "90" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781Ter)" "" "0000529093" "00000115" "50" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Ala759Thr)" "" "0000529094" "00000115" "30" "2181" "0" "2181" "0" "c.2181T>A" "r.(?)" "p.(Asn727Lys)" "" "0000529095" "00000115" "30" "2168" "0" "2168" "0" "c.2168G>T" "r.(?)" "p.(Arg723Leu)" "" "0000529096" "00000115" "30" "2165" "0" "2165" "0" "c.2165C>T" "r.(?)" "p.(Ala722Val)" "" "0000529097" "00000115" "30" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Pro692Ser)" "" "0000529098" "00000115" "30" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0000529099" "00000115" "30" "1964" "17" "1964" "17" "c.1964+17G>T" "r.(=)" "p.(=)" "" "0000529100" "00000115" "10" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Thr579Met)" "" "0000529101" "00000115" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(His458Tyr)" "" "0000529102" "00000115" "50" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Gly448Arg)" "" "0000529103" "00000115" "50" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Gly448Arg)" "" "0000529104" "00000115" "30" "1234" "-5" "1234" "-5" "c.1234-5C>T" "r.spl?" "p.?" "" "0000529105" "00000115" "90" "1233" "1" "1233" "1" "c.1233+1G>A" "r.spl?" "p.?" "" "0000529106" "00000115" "30" "977" "-9" "977" "-9" "c.977-9G>A" "r.(=)" "p.(=)" "" "0000529107" "00000115" "30" "847" "0" "847" "0" "c.847T>C" "r.(?)" "p.(Phe283Leu)" "" "0000529109" "00000115" "10" "779" "-12" "779" "-12" "c.779-12dup" "r.(=)" "p.(=)" "" "0000529113" "00000115" "30" "633" "0" "633" "0" "c.633G>A" "r.(?)" "p.(Gly211=)" "" "0000529114" "00000115" "30" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Ile)" "" "0000529115" "00000115" "30" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Ala109Thr)" "" "0000529116" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000529117" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000529118" "00000115" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Cys)" "" "0000610379" "00000115" "30" "11738" "0" "11738" "0" "c.11738G>A" "r.(?)" "p.(Arg3913His)" "" "0000610380" "00000115" "30" "8581" "0" "8581" "0" "c.8581A>G" "r.(?)" "p.(Ser2861Gly)" "" "0000610381" "00000115" "30" "8345" "0" "8345" "0" "c.8345G>C" "r.(?)" "p.(Gly2782Ala)" "" "0000610382" "00000115" "50" "8247" "0" "8247" "0" "c.8247G>C" "r.(?)" "p.(Trp2749Cys)" "" "0000610383" "00000115" "30" "8107" "8" "8107" "8" "c.8107+8T>G" "r.(=)" "p.(=)" "" "0000610384" "00000115" "50" "7109" "3" "7109" "3" "c.7109+3A>G" "r.spl?" "p.?" "" "0000610385" "00000115" "50" "6092" "0" "6092" "0" "c.6092C>T" "r.(?)" "p.(Ala2031Val)" "" "0000610386" "00000115" "50" "5768" "0" "5768" "0" "c.5768A>T" "r.(?)" "p.(Gln1923Leu)" "" "0000610388" "00000115" "30" "2726" "0" "2726" "0" "c.2726G>A" "r.(?)" "p.(Arg909Gln)" "" "0000621718" "00000115" "30" "10957" "0" "10957" "0" "c.10957A>G" "r.(?)" "p.(Met3653Val)" "" "0000630811" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000630812" "00000115" "70" "9370" "0" "9370" "0" "c.9370C>T" "r.(?)" "p.(His3124Tyr)" "" "0000630813" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000630814" "00000115" "70" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Thr136Ala)" "" "0000651995" "00000115" "50" "12861" "0" "12861" "0" "c.*636C>A" "r.(=)" "p.(=)" "" "0000651996" "00000115" "10" "11878" "0" "11878" "0" "c.11878G>A" "r.(?)" "p.(Val3960Ile)" "" "0000651997" "00000115" "30" "10515" "0" "10515" "0" "c.10515C>A" "r.(?)" "p.(Ser3505Arg)" "" "0000651998" "00000115" "50" "9788" "0" "9788" "0" "c.9788T>C" "r.(?)" "p.(Val3263Ala)" "" "0000651999" "00000115" "50" "9629" "0" "9629" "0" "c.9629C>G" "r.(?)" "p.(Ser3210Cys)" "" "0000652000" "00000115" "30" "8606" "0" "8606" "0" "c.8606C>A" "r.(?)" "p.(Thr2869Lys)" "" "0000652001" "00000115" "30" "7733" "43" "7733" "43" "c.7733+43G>A" "r.(=)" "p.(=)" "" "0000652002" "00000115" "50" "7377" "0" "7377" "0" "c.7377T>G" "r.(?)" "p.(Ile2459Met)" "" "0000652003" "00000115" "50" "5134" "0" "5134" "0" "c.5134G>A" "r.(?)" "p.(Gly1712Arg)" "" "0000652004" "00000115" "50" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000652005" "00000115" "30" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "" "0000652006" "00000115" "10" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Thr579Met)" "" "0000652007" "00000115" "10" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Trp)" "" "0000652008" "00000115" "90" "1602" "1" "1602" "1" "c.1602+1G>A" "r.spl?" "p.?" "" "0000652009" "00000115" "70" "85" "0" "85" "0" "c.85G>T" "r.(?)" "p.(Glu29*)" "" "0000653067" "00000115" "50" "9719" "0" "9719" "0" "c.9719G>T" "r.(?)" "p.(Arg3240Leu)" "" "0000653171" "00000115" "50" "6499" "0" "6499" "0" "c.6499C>A" "r.(?)" "p.(Gln2167Lys)" "" "0000655606" "00000115" "30" "9375" "0" "9375" "0" "c.9375A>G" "r.(?)" "p.(Ser3125=)" "" "0000655607" "00000115" "30" "6854" "0" "6854" "0" "c.6854G>A" "r.(?)" "p.(Gly2285Glu)" "" "0000655608" "00000115" "90" "4330" "0" "4330" "0" "c.4330C>T" "r.(?)" "p.(Gln1444Ter)" "" "0000655609" "00000115" "30" "3303" "0" "3303" "0" "c.3303A>G" "r.(?)" "p.(Thr1101=)" "" "0000655610" "00000115" "30" "2934" "0" "2934" "0" "c.2934G>A" "r.(?)" "p.(Gln978=)" "" "0000667209" "00000115" "90" "9370" "0" "9370" "0" "c.9370C>T" "r.(?)" "p.(His3124Tyr)" "" "0000667210" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667211" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000667212" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667214" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667215" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667216" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667217" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667220" "00000115" "90" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Thr136Ala)" "" "0000667223" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667224" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667225" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667226" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667227" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667232" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667237" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667244" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667245" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667246" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000667247" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000667248" "00000115" "90" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Thr136Ala)" "" "0000667249" "00000115" "90" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Thr136Ala)" "" "0000667250" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000667251" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000667252" "00000115" "90" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Thr136Ala)" "" "0000669922" "00000115" "10" "11878" "0" "11878" "0" "c.11878G>A" "r.(?)" "p.(Val3960Ile)" "" "0000677799" "00000115" "90" "10219" "0" "10219" "0" "c.10219C>T" "r.(?)" "p.(Gln3407Ter)" "" "0000677800" "00000115" "90" "10126" "0" "10126" "0" "c.10126del" "r.(?)" "p.(Ala3376GlnfsTer24)" "" "0000677801" "00000115" "30" "9788" "0" "9788" "0" "c.9788T>C" "r.(?)" "p.(Val3263Ala)" "" "0000677802" "00000115" "90" "8302" "2" "8302" "2" "c.8302+2T>C" "r.spl?" "p.?" "" "0000677803" "00000115" "50" "8120" "0" "8120" "0" "c.8120G>A" "r.(?)" "p.(Gly2707Asp)" "" "0000677804" "00000115" "30" "6854" "0" "6854" "0" "c.6854G>A" "r.(?)" "p.(Gly2285Glu)" "" "0000677805" "00000115" "50" "5768" "0" "5768" "0" "c.5768A>T" "r.(?)" "p.(Gln1923Leu)" "" "0000677806" "00000115" "30" "4885" "0" "4885" "0" "c.4885A>G" "r.(?)" "p.(Thr1629Ala)" "" "0000677807" "00000115" "30" "3851" "0" "3851" "0" "c.3851C>T" "r.(?)" "p.(Pro1284Leu)" "" "0000677808" "00000115" "70" "920" "0" "920" "0" "c.920T>C" "r.(?)" "p.(Ile307Thr)" "" "0000677809" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000689747" "00000115" "30" "11338" "0" "11338" "0" "c.11338C>T" "r.(?)" "p.(Pro3780Ser)" "" "0000689748" "00000115" "50" "9662" "0" "9662" "0" "c.9662C>T" "r.(?)" "p.(Pro3221Leu)" "" "0000689749" "00000115" "30" "9402" "0" "9402" "0" "c.9402G>A" "r.(?)" "p.(Lys3134=)" "" "0000689750" "00000115" "30" "7912" "-5" "7912" "-5" "c.7912-5T>G" "r.spl?" "p.?" "" "0000689751" "00000115" "30" "7613" "0" "7613" "0" "c.7613A>T" "r.(?)" "p.(His2538Leu)" "" "0000689752" "00000115" "30" "7482" "0" "7482" "0" "c.7482A>T" "r.(?)" "p.(Gly2494=)" "" "0000689753" "00000115" "30" "6854" "0" "6854" "0" "c.6854G>A" "r.(?)" "p.(Gly2285Glu)" "" "0000689754" "00000115" "50" "5134" "0" "5134" "0" "c.5134G>A" "r.(?)" "p.(Gly1712Arg)" "" "0000689755" "00000115" "30" "3783" "0" "3783" "0" "c.3783C>T" "r.(?)" "p.(Gly1261=)" "" "0000689756" "00000115" "30" "2853" "0" "2853" "0" "c.2853C>T" "r.(?)" "p.(Thr951=)" "" "0000698253" "00000115" "90" "4481" "0" "4481" "0" "c.4481del" "r.(?)" "p.(Asn1494Thrfs*6)" "32" "0000698254" "00000115" "70" "4121" "0" "4121" "0" "c.4121G>T" "r.(?)" "p.(Gly1374Val)" "32" "0000698281" "00000115" "70" "4321" "0" "4321" "0" "c.4321del" "r.(?)" "p.(Ile1441Phefs*19)" "32" "0000698282" "00000115" "50" "4190" "0" "4190" "0" "c.4190C>T" "r.(?)" "p.(Ser1397Leu)" "32" "0000698283" "00000115" "70" "8248" "0" "8248" "0" "c.8248G>A" "r.(?)" "p.(Gly2750Arg)" "" "0000711419" "00000115" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Arg)" "" "0000720970" "00000115" "50" "12027" "0" "12027" "0" "c.12027C>G" "r.(?)" "p.(Tyr4009Ter)" "" "0000720971" "00000115" "30" "10859" "0" "10859" "0" "c.10859G>A" "r.(?)" "p.(Arg3620His)" "" "0000720972" "00000115" "50" "10619" "0" "10619" "0" "c.10619A>G" "r.(?)" "p.(Asp3540Gly)" "" "0000720973" "00000115" "50" "10036" "0" "10036" "0" "c.10036T>C" "r.(?)" "p.(Cys3346Arg)" "" "0000720974" "00000115" "30" "9492" "0" "9492" "0" "c.9492C>T" "r.(?)" "p.(Ser3164=)" "" "0000720975" "00000115" "30" "9363" "0" "9363" "0" "c.9363T>C" "r.(?)" "p.(Asn3121=)" "" "0000720976" "00000115" "30" "8581" "0" "8581" "0" "c.8581A>G" "r.(?)" "p.(Ser2861Gly)" "" "0000720977" "00000115" "70" "8518" "0" "8518" "0" "c.8518C>T" "r.(?)" "p.(Arg2840Cys)" "" "0000720978" "00000115" "30" "8345" "0" "8345" "0" "c.8345G>C" "r.(?)" "p.(Gly2782Ala)" "" "0000720979" "00000115" "70" "8302" "2" "8302" "2" "c.8302+2T>C" "r.spl?" "p.?" "" "0000720980" "00000115" "30" "7912" "-5" "7912" "-5" "c.7912-5T>G" "r.spl?" "p.?" "" "0000720981" "00000115" "30" "7734" "-21" "7734" "-20" "c.7734-21_7734-20dup" "r.(=)" "p.(=)" "" "0000720982" "00000115" "30" "7675" "0" "7675" "0" "c.7675G>C" "r.(?)" "p.(Val2559Leu)" "" "0000720983" "00000115" "50" "7264" "0" "7264" "0" "c.7264T>G" "r.(?)" "p.(Cys2422Gly)" "" "0000720984" "00000115" "50" "7067" "0" "7067" "0" "c.7067C>T" "r.(?)" "p.(Pro2356Leu)" "" "0000720985" "00000115" "50" "5731" "0" "5731" "0" "c.5731C>T" "r.(?)" "p.(Arg1911Cys)" "" "0000720986" "00000115" "30" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Ala1826=)" "" "0000720987" "00000115" "30" "4920" "0" "4920" "0" "c.4920A>G" "r.(?)" "p.(Val1640=)" "" "0000720988" "00000115" "50" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000720989" "00000115" "50" "4571" "0" "4571" "0" "c.4571T>G" "r.(?)" "p.(Leu1524Arg)" "" "0000720990" "00000115" "90" "4256" "0" "4257" "0" "c.4256_4257del" "r.(?)" "p.(Arg1419Ilefs*5)" "" "0000720991" "00000115" "30" "3537" "0" "3537" "0" "c.3537T>C" "r.(?)" "p.(Asn1179=)" "" "0000720992" "00000115" "30" "3241" "0" "3241" "0" "c.3241C>T" "r.(?)" "p.(Arg1081Cys)" "" "0000720993" "00000115" "90" "2264" "0" "2264" "0" "c.2264C>T" "r.(?)" "p.(Pro755Leu)" "" "0000720994" "00000115" "30" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "" "0000720995" "00000115" "70" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Gly470Asp)" "" "0000720996" "00000115" "30" "1234" "-9" "1234" "-9" "c.1234-9T>C" "r.(=)" "p.(=)" "" "0000720997" "00000115" "10" "1234" "-10" "1234" "-10" "c.1234-10T>A" "r.(=)" "p.(=)" "" "0000720998" "00000115" "30" "1119" "-18" "1119" "-18" "c.1119-18C>G" "r.(=)" "p.(=)" "" "0000720999" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000736814" "00000115" "70" "5426" "0" "5426" "0" "c.5426G>A" "r.(?)" "p.(Cys1809Tyr)" "" "0000802628" "00000115" "30" "11130" "0" "11130" "0" "c.11130C>T" "r.(?)" "p.(Ile3710=)" "" "0000802629" "00000115" "30" "9215" "0" "9215" "0" "c.9215C>T" "r.(?)" "p.(Ala3072Val)" "" "0000802630" "00000115" "30" "9215" "0" "9215" "0" "c.9215C>T" "r.(?)" "p.(Ala3072Val)" "" "0000802631" "00000115" "30" "7810" "0" "7810" "0" "c.7810C>T" "r.(?)" "p.(Arg2604Cys)" "" "0000802632" "00000115" "30" "6267" "0" "6267" "0" "c.6267G>A" "r.(?)" "p.(Pro2089=)" "" "0000802633" "00000115" "50" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Ser1833Leu)" "" "0000802634" "00000115" "50" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Leu1356Phe)" "" "0000802635" "00000115" "30" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Asn1346=)" "" "0000802636" "00000115" "30" "3835" "0" "3835" "0" "c.3835G>A" "r.(?)" "p.(Ala1279Thr)" "" "0000802637" "00000115" "30" "2853" "0" "2853" "0" "c.2853C>T" "r.(?)" "p.(Thr951=)" "" "0000802638" "00000115" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Arg)" "" "0000827837" "00000115" "50" "7964" "0" "7964" "0" "c.7964A>G" "r.(?)" "p.(His2655Arg)" "" "0000827894" "00000115" "90" "707" "1" "707" "1" "c.707+1G>A" "r.spl" "p.(?)" "" "0000838400" "00000115" "90" "8798" "-459" "8798" "-459" "c.8798-459C>A" "r.8797_8798ins8798-434_8798-324" "p.Gly2933Alafs17*" "56i" "0000838422" "00000115" "50" "9127" "0" "9127" "0" "c.9127G>A" "r.(?)" "p.(Val3043Met)" "" "0000840818" "00000115" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Gly1122Ser)" "" "0000840819" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840820" "00000115" "70" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Ile222Val)" "" "0000840821" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000840822" "00000115" "90" "5895" "0" "5895" "0" "c.5895dup" "r.(?)" "p.(Leu1966Thrfs*4)" "" "0000840823" "00000115" "70" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "" "0000840824" "00000115" "90" "5895" "0" "5895" "0" "c.5895dup" "r.(?)" "p.(Leu1966Thrfs*4)" "" "0000840825" "00000115" "70" "8870" "0" "8870" "0" "c.8870T>C" "r.(?)" "p.(Ile2957Thr)" "" "0000840826" "00000115" "90" "5895" "0" "5895" "0" "c.5895dup" "r.(?)" "p.(Leu1966Thrfs*4)" "" "0000840827" "00000115" "70" "5825" "0" "5825" "0" "c.5825A>G" "r.(?)" "p.(Asp1942Gly)" "" "0000840828" "00000115" "70" "3367" "0" "3367" "0" "c.3367G>A" "r.(?)" "p.(Gly1123Ser)" "" "0000840829" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840830" "00000115" "70" "8588" "0" "8588" "0" "c.8588A>G" "r.(?)" "p.(Tyr2863Cys)" "" "0000840831" "00000115" "70" "8588" "0" "8588" "0" "c.8588A>G" "r.(?)" "p.(Tyr2863Cys)" "" "0000840832" "00000115" "90" "3761" "0" "3762" "0" "c.3761_3762delinsG" "r.(?)" "p.(Ala1254Glyfs*49)" "" "0000840833" "00000115" "90" "7477" "0" "7477" "0" "c.7477C>T" "r.(?)" "p.(Gln2493*)" "" "0000840834" "00000115" "90" "8011" "0" "8011" "0" "c.8011C>T" "r.(?)" "p.(Arg2671*)" "" "0000840835" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840836" "00000115" "90" "8829" "0" "8829" "0" "c.8829dup" "r.(?)" "p.(Ile2944Hisfs*6)" "" "0000840837" "00000115" "90" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Trp937*)" "" "0000840838" "00000115" "90" "10077" "0" "10077" "0" "c.10077del" "r.(?)" "p.(Arg3360Glufs*40)" "" "0000840839" "00000115" "90" "10639" "0" "10639" "0" "c.10639dup" "r.(?)" "p.(Leu3547Profs*8)" "" "0000840840" "00000115" "70" "7264" "0" "7264" "0" "c.7264T>G" "r.(?)" "p.(Cys2422Gly)" "" "0000840841" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840842" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840843" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840844" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840845" "00000115" "90" "3306" "0" "3306" "0" "c.3306del" "r.(?)" "p.(Tyr1102Ter)" "" "0000840846" "00000115" "90" "3761" "0" "3762" "0" "c.3761_3762delinsG" "r.(?)" "p.(Ala1254GlyfsTer49)" "" "0000840847" "00000115" "90" "8829" "0" "8829" "0" "c.8829dup" "r.(?)" "p.(Ile2944HisfsTer6)" "" "0000840848" "00000115" "70" "9530" "0" "9530" "0" "c.9530T>C" "r.(?)" "p.(Ile3177Thr)" "" "0000840849" "00000115" "70" "9878" "0" "9878" "0" "c.9878A>T" "r.(?)" "p.(Asp3293Val)" "" "0000840850" "00000115" "70" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "" "0000840851" "00000115" "90" "8829" "0" "8829" "0" "c.8829dup" "r.(?)" "p.(Ile2944HisfsTer6)" "" "0000840852" "00000115" "30" "888" "0" "888" "0" "c.888A>T" "r.(?)" "p.(Pro296=)" "" "0000840853" "00000115" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Gln438=)" "" "0000840854" "00000115" "30" "3393" "0" "3393" "0" "c.3393G>A" "r.(?)" "p.(Ala1131=)" "" "0000840855" "00000115" "30" "5199" "0" "5199" "0" "c.5199C>A" "r.(?)" "p.(Thr1733=)" "" "0000840856" "00000115" "30" "6975" "0" "6975" "0" "c.6975C>T" "r.(?)" "p.(Cys2325=)" "" "0000840857" "00000115" "30" "7533" "0" "7533" "0" "c.7533A>G" "r.(?)" "p.(Ser2511=)" "" "0000840858" "00000115" "30" "10299" "0" "10299" "0" "c.10299G>A" "r.(?)" "p.(Val3433=)" "" "0000840859" "00000115" "30" "10968" "0" "10968" "0" "c.10968A>G" "r.(?)" "p.(Glu3656=)" "" "0000840860" "00000115" "10" "1371" "0" "1371" "0" "c.1371G>C" "r.(?)" "p.(Glu457Asp)" "" "0000840861" "00000115" "10" "2194" "0" "2194" "0" "c.2194G>T" "r.(?)" "p.(Val732Phe)" "" "0000840862" "00000115" "10" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "" "0000840863" "00000115" "10" "3448" "0" "3448" "0" "c.3448G>C" "r.(?)" "p.(Ala1150Pro)" "" "0000840864" "00000115" "10" "3848" "0" "3848" "0" "c.3848C>T" "r.(?)" "p.(Ser1283Leu)" "" "0000840865" "00000115" "10" "5608" "0" "5608" "0" "c.5608T>G" "r.(?)" "p.(Leu1870Val)" "" "0000840866" "00000115" "10" "7844" "0" "7844" "0" "c.7844C>G" "r.(?)" "p.(Ala2615Gly)" "" "0000840867" "00000115" "10" "8606" "0" "8606" "0" "c.8606C>A" "r.(?)" "p.(Thr2869Lys)" "" "0000840868" "00000115" "10" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "" "0000840869" "00000115" "10" "9428" "0" "9428" "0" "c.9428G>T" "r.(?)" "p.(Arg3143Ile)" "" "0000840870" "00000115" "10" "10319" "0" "10319" "0" "c.10319T>A" "r.(?)" "p.(Val3440Asp)" "" "0000840871" "00000115" "10" "10651" "0" "10651" "0" "c.10651G>A" "r.(?)" "p.(Glu3551Lys)" "" "0000840872" "00000115" "10" "11696" "0" "11696" "0" "c.11696A>G" "r.(?)" "p.(Gln3899Arg)" "" "0000840873" "00000115" "10" "11878" "0" "11878" "0" "c.11878G>A" "r.(?)" "p.(Val3960Ile)" "" "0000840874" "00000115" "10" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Leu72=)" "" "0000840875" "00000115" "10" "237" "0" "237" "0" "c.237C>T" "r.(?)" "p.(Val79=)" "" "0000840876" "00000115" "10" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Arg92=)" "" "0000840877" "00000115" "10" "1587" "0" "1587" "0" "c.1587T>C" "r.(?)" "p.(Asn529=)" "" "0000840878" "00000115" "10" "2046" "0" "2046" "0" "c.2046A>C" "r.(?)" "p.(Pro682=)" "" "0000840879" "00000115" "10" "2214" "0" "2214" "0" "c.2214T>G" "r.(?)" "p.(Pro738=)" "" "0000840880" "00000115" "10" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "" "0000840881" "00000115" "10" "4920" "0" "4920" "0" "c.4920A>C" "r.(?)" "p.(Val1640=)" "" "0000840882" "00000115" "10" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Leu1966=)" "" "0000840883" "00000115" "10" "7587" "0" "7587" "0" "c.7587G>A" "r.(?)" "p.(Gly2529=)" "" "0000840884" "00000115" "10" "7764" "0" "7764" "0" "c.7764A>G" "r.(?)" "p.(Leu2588=)" "" "0000840885" "00000115" "10" "9237" "0" "9237" "0" "c.9237G>A" "r.(?)" "p.(Ala3079=)" "" "0000840886" "00000115" "10" "9492" "0" "9492" "0" "c.9492C>T" "r.(?)" "p.(Ser3164=)" "" "0000840887" "00000115" "10" "10521" "0" "10521" "0" "c.10521C>T" "r.(?)" "p.(His3507=)" "" "0000840888" "00000115" "10" "11340" "0" "11340" "0" "c.11340T>C" "r.(?)" "p.(Pro3780=)" "" "0000845939" "00000115" "70" "9629" "0" "9629" "0" "c.9629C>G" "r.(?)" "p.(Ser3210Cys)" "" "0000845940" "00000115" "90" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564*)" "" "0000845941" "00000115" "90" "1756" "0" "1756" "0" "c.1756T>G" "r.(?)" "p.(Phe586Val)" "" "0000845944" "00000115" "90" "2507" "0" "2507" "0" "c.2507T>C" "r.(?)" "p.(Val836Ala)" "" "0000845945" "00000115" "90" "11611" "0" "11611" "0" "c.11611T>C" "r.(?)" "p.(Trp3871Arg)" "" "0000851246" "00000115" "30" "11507" "-11" "11507" "-11" "c.11507-11C>T" "r.(=)" "p.(=)" "" "0000851247" "00000115" "30" "10926" "0" "10926" "0" "c.10926G>A" "r.(?)" "p.(Met3642Ile)" "" "0000851248" "00000115" "30" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000851249" "00000115" "30" "9262" "0" "9262" "0" "c.9262G>A" "r.(?)" "p.(Asp3088Asn)" "" "0000851250" "00000115" "10" "8673" "0" "8673" "0" "c.8673C>G" "r.(?)" "p.(Arg2891=)" "" "0000851251" "00000115" "30" "7744" "0" "7744" "0" "c.7744C>T" "r.(?)" "p.(Pro2582Ser)" "" "0000851252" "00000115" "70" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Ser1833Leu)" "" "0000851253" "00000115" "30" "1950" "0" "1950" "0" "c.1950G>A" "r.(?)" "p.(Arg650=)" "" "0000860367" "00000115" "30" "11940" "0" "11940" "0" "c.11940C>G" "r.(?)" "p.(His3980Gln)" "" "0000860368" "00000115" "30" "11897" "0" "11897" "0" "c.11897C>T" "r.(?)" "p.(Ala3966Val)" "" "0000860369" "00000115" "30" "11871" "0" "11871" "0" "c.11871C>T" "r.(?)" "p.(Arg3957=)" "" "0000860370" "00000115" "30" "11836" "0" "11836" "0" "c.11836T>C" "r.(?)" "p.(Leu3946=)" "" "0000860371" "00000115" "10" "11714" "0" "11714" "0" "c.11714T>A" "r.(?)" "p.(Ile3905Asn)" "" "0000860372" "00000115" "10" "11665" "18" "11665" "18" "c.11665+18dup" "r.(=)" "p.(=)" "" "0000860373" "00000115" "30" "11506" "49" "11506" "49" "c.11506+49del" "r.(=)" "p.(=)" "" "0000860374" "00000115" "10" "11506" "49" "11506" "49" "c.11506+49dup" "r.(=)" "p.(=)" "" "0000860375" "00000115" "30" "11476" "0" "11476" "0" "c.11476C>A" "r.(?)" "p.(His3826Asn)" "" "0000860376" "00000115" "30" "11338" "0" "11338" "0" "c.11338C>T" "r.(?)" "p.(Pro3780Ser)" "" "0000860377" "00000115" "10" "11174" "11" "11174" "11" "c.11174+11A>G" "r.(=)" "p.(=)" "" "0000860378" "00000115" "50" "10926" "0" "10926" "0" "c.10926G>A" "r.(?)" "p.(Met3642Ile)" "" "0000860379" "00000115" "30" "10926" "0" "10926" "0" "c.10926G>A" "r.(?)" "p.(Met3642Ile)" "" "0000860380" "00000115" "30" "9925" "0" "9925" "0" "c.9925A>G" "r.(?)" "p.(Ile3309Val)" "" "0000860381" "00000115" "30" "9866" "0" "9866" "0" "c.9866G>T" "r.(?)" "p.(Ser3289Ile)" "" "0000860382" "00000115" "50" "9841" "0" "9841" "0" "c.9841T>C" "r.(?)" "p.(Ser3281Pro)" "" "0000860383" "00000115" "30" "9788" "0" "9788" "0" "c.9788T>C" "r.(?)" "p.(Val3263Ala)" "" "0000860384" "00000115" "90" "9718" "0" "9718" "0" "c.9718C>T" "r.(?)" "p.(Arg3240*)" "" "0000860385" "00000115" "30" "9493" "0" "9493" "0" "c.9493G>A" "r.(?)" "p.(Val3165Met)" "" "0000860386" "00000115" "30" "9432" "0" "9432" "0" "c.9432C>A" "r.(?)" "p.(Ile3144=)" "" "0000860387" "00000115" "30" "9369" "0" "9369" "0" "c.9369G>A" "r.(?)" "p.(Ala3123=)" "" "0000860388" "00000115" "30" "9363" "0" "9363" "0" "c.9363T>C" "r.(?)" "p.(Asn3121=)" "" "0000860389" "00000115" "50" "8989" "0" "8989" "0" "c.8989G>T" "r.(?)" "p.(Gly2997Trp)" "" "0000860390" "00000115" "30" "8798" "-19" "8798" "-19" "c.8798-19A>C" "r.(=)" "p.(=)" "" "0000860392" "00000115" "30" "8345" "0" "8345" "0" "c.8345G>C" "r.(?)" "p.(Gly2782Ala)" "" "0000860393" "00000115" "30" "8174" "-10" "8174" "-10" "c.8174-10dup" "r.(=)" "p.(=)" "" "0000860394" "00000115" "30" "8035" "0" "8035" "0" "c.8035C>A" "r.(?)" "p.(Leu2679Ile)" "" "0000860395" "00000115" "50" "7921" "0" "7921" "0" "c.7921A>G" "r.(?)" "p.(Thr2641Ala)" "" "0000860396" "00000115" "10" "7734" "-20" "7734" "-20" "c.7734-20dup" "r.(=)" "p.(=)" "" "0000860397" "00000115" "50" "7264" "0" "7264" "0" "c.7264T>G" "r.(?)" "p.(Cys2422Gly)" "" "0000860398" "00000115" "30" "6936" "0" "6936" "0" "c.6936C>T" "r.(?)" "p.(Ser2312=)" "" "0000860399" "00000115" "30" "6777" "0" "6777" "0" "c.6777C>T" "r.(?)" "p.(Phe2259=)" "" "0000860400" "00000115" "30" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Leu2062=)" "" "0000860401" "00000115" "10" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Leu1966=)" "" "0000860402" "00000115" "30" "5731" "0" "5731" "0" "c.5731C>T" "r.(?)" "p.(Arg1911Cys)" "" "0000860403" "00000115" "30" "5478" "0" "5478" "0" "c.5478G>A" "r.(?)" "p.(Ala1826=)" "" "0000860404" "00000115" "30" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804His)" "" "0000860405" "00000115" "10" "5199" "0" "5199" "0" "c.5199C>A" "r.(?)" "p.(Thr1733=)" "" "0000860406" "00000115" "30" "4920" "0" "4920" "0" "c.4920A>G" "r.(?)" "p.(Val1640=)" "" "0000860407" "00000115" "30" "4844" "0" "4844" "0" "c.4844C>T" "r.(?)" "p.(Thr1615Met)" "" "0000860408" "00000115" "50" "4543" "0" "4543" "0" "c.4543G>A" "r.(?)" "p.(Glu1515Lys)" "" "0000860409" "00000115" "50" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Glu1483Lys)" "" "0000860410" "00000115" "50" "4292" "0" "4292" "0" "c.4292G>A" "r.(?)" "p.(Cys1431Tyr)" "" "0000860411" "00000115" "10" "4035" "0" "4035" "0" "c.4035C>A" "r.(?)" "p.(Gly1345=)" "" "0000860412" "00000115" "30" "3804" "0" "3804" "0" "c.3804C>T" "r.(?)" "p.(Ala1268=)" "" "0000860413" "00000115" "30" "3783" "0" "3783" "0" "c.3783C>T" "r.(?)" "p.(Gly1261=)" "" "0000860414" "00000115" "30" "3537" "0" "3537" "0" "c.3537T>C" "r.(?)" "p.(Asn1179=)" "" "0000860415" "00000115" "50" "3467" "0" "3467" "0" "c.3467C>T" "r.(?)" "p.(Ser1156Leu)" "" "0000860416" "00000115" "30" "3310" "0" "3310" "0" "c.3310T>G" "r.(?)" "p.(Ser1104Ala)" "" "0000860417" "00000115" "50" "3241" "0" "3241" "0" "c.3241C>T" "r.(?)" "p.(Arg1081Cys)" "" "0000860418" "00000115" "30" "3183" "0" "3183" "0" "c.3183C>T" "r.(?)" "p.(Val1061=)" "" "0000860419" "00000115" "90" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Gly952Arg)" "" "0000860420" "00000115" "50" "2853" "0" "2853" "0" "c.2853C>A" "r.(?)" "p.(Thr951=)" "" "0000860421" "00000115" "50" "2825" "0" "2825" "0" "c.2825G>C" "r.(?)" "p.(Gly942Ala)" "" "0000860422" "00000115" "50" "2781" "0" "2781" "0" "c.2781A>G" "r.(?)" "p.(Gln927=)" "" "0000860423" "00000115" "30" "2592" "7" "2592" "7" "c.2592+7A>G" "r.(=)" "p.(=)" "" "0000860424" "00000115" "30" "2280" "-13" "2280" "-13" "c.2280-13T>G" "r.(=)" "p.(=)" "" "0000860425" "00000115" "30" "2279" "13" "2279" "13" "c.2279+13T>G" "r.(=)" "p.(=)" "" "0000860426" "00000115" "30" "1950" "0" "1950" "0" "c.1950G>A" "r.(?)" "p.(Arg650=)" "" "0000860427" "00000115" "30" "1796" "0" "1796" "0" "c.1796C>T" "r.(?)" "p.(Pro599Leu)" "" "0000860428" "00000115" "30" "1603" "-14" "1603" "-13" "c.1603-14_1603-13del" "r.(=)" "p.(=)" "" "0000860429" "00000115" "30" "1603" "-19" "1603" "-19" "c.1603-19T>A" "r.(=)" "p.(=)" "" "0000860430" "00000115" "30" "1234" "-9" "1234" "-9" "c.1234-9T>C" "r.(=)" "p.(=)" "" "0000860431" "00000115" "30" "1234" "-9" "1234" "-9" "c.1234-9T>C" "r.(=)" "p.(=)" "" "0000860432" "00000115" "10" "888" "0" "888" "0" "c.888A>T" "r.(?)" "p.(Pro296=)" "" "0000860433" "00000115" "50" "881" "-3" "881" "-3" "c.881-3del" "r.spl?" "p.?" "" "0000860434" "00000115" "30" "779" "-13" "779" "-12" "c.779-13_779-12dup" "r.(=)" "p.(=)" "" "0000860435" "00000115" "50" "748" "0" "748" "0" "c.748C>G" "r.(?)" "p.(Gln250Glu)" "" "0000860436" "00000115" "10" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Leu245=)" "" "0000860438" "00000115" "90" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Ser118IlefsTer35)" "" "0000860439" "00000115" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Arg)" "" "0000860440" "00000115" "30" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000860441" "00000115" "30" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Asn53Ser)" "" "0000873607" "00000115" "70" "9455" "0" "9455" "0" "c.9455del" "r.(?)" "p.(Asn3152Thrfs*10)" "" "0000873608" "00000115" "70" "5231" "0" "5231" "0" "c.5231A>G" "r.(?)" "p.(Asn1744Ser)" "" "0000873917" "00000115" "10" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Gly448Arg)" "" "0000874666" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000881310" "00000115" "90" "3907" "0" "3907" "0" "c.3907del" "r.(?)" "p.(Val1303SerfsTer13)" "" "0000881345" "00000115" "90" "6992" "0" "6992" "0" "c.6992T>A" "r.(?)" "p.(Ile2331Lys)" "" "0000881369" "00000115" "90" "8555" "-2" "8555" "-2" "c.8555-2A>G" "r.spl" "p.?" "" "0000887278" "00000115" "50" "12024" "0" "12024" "0" "c.12024A>G" "r.(?)" "p.(Arg4008=)" "" "0000887279" "00000115" "50" "12024" "0" "12024" "0" "c.12024A>G" "r.(?)" "p.(Arg4008=)" "" "0000887280" "00000115" "30" "11876" "0" "11876" "0" "c.11876T>C" "r.(?)" "p.(Ile3959Thr)" "" "0000887281" "00000115" "30" "11836" "0" "11836" "0" "c.11836T>C" "r.(?)" "p.(Leu3946=)" "" "0000887282" "00000115" "30" "11754" "0" "11754" "0" "c.11754G>T" "r.(?)" "p.(Gly3918=)" "" "0000887283" "00000115" "10" "11738" "0" "11738" "0" "c.11738G>A" "r.(?)" "p.(Arg3913His)" "" "0000887284" "00000115" "70" "11507" "-2" "11507" "-2" "c.11507-2A>G" "r.spl?" "p.?" "" "0000887285" "00000115" "30" "11130" "0" "11130" "0" "c.11130C>T" "r.(?)" "p.(Ile3710=)" "" "0000887287" "00000115" "30" "10973" "0" "10973" "0" "c.10973T>C" "r.(?)" "p.(Ile3658Thr)" "" "0000887288" "00000115" "50" "10940" "0" "10940" "0" "c.10940A>C" "r.(?)" "p.(His3647Pro)" "" "0000887289" "00000115" "30" "10883" "0" "10883" "0" "c.10883C>T" "r.(?)" "p.(Thr3628Ile)" "" "0000887290" "00000115" "50" "10630" "0" "10630" "0" "c.10630T>C" "r.(?)" "p.(Tyr3544His)" "" "0000887291" "00000115" "10" "10585" "0" "10585" "0" "c.10585G>C" "r.(?)" "p.(Glu3529Gln)" "" "0000887292" "00000115" "10" "10585" "0" "10585" "0" "c.10585G>C" "r.(?)" "p.(Glu3529Gln)" "" "0000887293" "00000115" "90" "10174" "0" "10174" "0" "c.10174C>T" "r.(?)" "p.(Gln3392*)" "" "0000887294" "00000115" "90" "9998" "2" "9998" "2" "c.9998+2T>C" "r.spl?" "p.?" "" "0000887295" "00000115" "30" "8951" "-13" "8951" "-13" "c.8951-13C>T" "r.(=)" "p.(=)" "" "0000887296" "00000115" "10" "8798" "-19" "8798" "-19" "c.8798-19del" "r.(=)" "p.(=)" "" "0000887297" "00000115" "30" "8518" "0" "8518" "0" "c.8518C>G" "r.(?)" "p.(Arg2840Gly)" "" "0000887298" "00000115" "30" "8174" "-18" "8174" "-18" "c.8174-18T>A" "r.(=)" "p.(=)" "" "0000887299" "00000115" "10" "8108" "-16" "8108" "-16" "c.8108-16G>C" "r.(=)" "p.(=)" "" "0000887300" "00000115" "10" "7921" "0" "7921" "0" "c.7921A>G" "r.(?)" "p.(Thr2641Ala)" "" "0000887301" "00000115" "30" "7734" "-21" "7734" "-20" "c.7734-21_7734-20dup" "r.(=)" "p.(=)" "" "0000887302" "00000115" "50" "7675" "0" "7675" "0" "c.7675G>C" "r.(?)" "p.(Val2559Leu)" "" "0000887303" "00000115" "30" "7591" "0" "7591" "0" "c.7591C>T" "r.(?)" "p.(Leu2531=)" "" "0000887304" "00000115" "30" "7487" "-18" "7487" "-17" "c.7487-18_7487-17del" "r.(=)" "p.(=)" "" "0000887305" "00000115" "30" "6687" "0" "6687" "0" "c.6687T>C" "r.(?)" "p.(Ser2229=)" "" "0000887306" "00000115" "30" "6658" "0" "6658" "0" "c.6658C>G" "r.(?)" "p.(Leu2220Val)" "" "0000887307" "00000115" "10" "6333" "-8" "6333" "-7" "c.6333-8_6333-7del" "r.(=)" "p.(=)" "" "0000887308" "00000115" "30" "5725" "0" "5725" "0" "c.5725C>T" "r.(?)" "p.(Arg1909Trp)" "" "0000887309" "00000115" "30" "5199" "0" "5199" "0" "c.5199C>A" "r.(?)" "p.(Thr1733=)" "" "0000887310" "00000115" "90" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000887311" "00000115" "30" "4343" "0" "4343" "0" "c.4343A>G" "r.(?)" "p.(Glu1448Gly)" "" "0000887312" "00000115" "30" "4343" "0" "4343" "0" "c.4343A>G" "r.(?)" "p.(Glu1448Gly)" "" "0000887313" "00000115" "50" "4304" "0" "4304" "0" "c.4304G>C" "r.(?)" "p.(Ser1435Thr)" "" "0000887314" "00000115" "30" "3984" "0" "3984" "0" "c.3984C>T" "r.(?)" "p.(Val1328=)" "" "0000887315" "00000115" "30" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Val1103Ile)" "" "0000887316" "00000115" "30" "3048" "0" "3048" "0" "c.3048T>C" "r.(?)" "p.(Asn1016=)" "" "0000887317" "00000115" "70" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Asp941Asn)" "" "0000887318" "00000115" "90" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781Ter)" "" "0000887319" "00000115" "50" "2238" "0" "2238" "0" "c.2238G>C" "r.(?)" "p.(Trp746Cys)" "" "0000887320" "00000115" "30" "2194" "0" "2194" "0" "c.2194G>T" "r.(?)" "p.(Val732Phe)" "" "0000887321" "00000115" "30" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "" "0000887322" "00000115" "30" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Thr642Ile)" "" "0000887323" "00000115" "90" "1830" "0" "1830" "0" "c.1830T>A" "r.(?)" "p.(Tyr610*)" "" "0000887324" "00000115" "50" "1829" "0" "1829" "0" "c.1829A>G" "r.(?)" "p.(Tyr610Cys)" "" "0000887325" "00000115" "50" "1676" "0" "1676" "0" "c.1676G>A" "r.(?)" "p.(Arg559Gln)" "" "0000887326" "00000115" "10" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Trp)" "" "0000887327" "00000115" "30" "1603" "-14" "1603" "-13" "c.1603-14_1603-13del" "r.(=)" "p.(=)" "" "0000887328" "00000115" "30" "1603" "-19" "1603" "-19" "c.1603-19T>A" "r.(=)" "p.(=)" "" "0000887329" "00000115" "90" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494*)" "" "0000887330" "00000115" "30" "1234" "-5" "1234" "-5" "c.1234-5C>T" "r.spl?" "p.?" "" "0000887331" "00000115" "10" "888" "0" "888" "0" "c.888A>T" "r.(?)" "p.(Pro296=)" "" "0000887332" "00000115" "70" "812" "0" "812" "0" "c.812T>A" "r.(?)" "p.(Leu271His)" "" "0000887334" "00000115" "30" "633" "0" "633" "0" "c.633G>A" "r.(?)" "p.(Gly211=)" "" "0000887335" "00000115" "30" "528" "-18" "528" "-18" "c.528-18A>T" "r.(=)" "p.(=)" "" "0000887336" "00000115" "90" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Ser118IlefsTer35)" "" "0000887337" "00000115" "30" "339" "0" "339" "0" "c.339A>T" "r.(?)" "p.(Gly113=)" "" "0000887338" "00000115" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Phe111=)" "" "0000887339" "00000115" "50" "192" "0" "192" "0" "c.192C>T" "r.(?)" "p.(Asn64=)" "" "0000887340" "00000115" "30" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Asn53Ser)" "" "0000912540" "00000115" "30" "11130" "0" "11130" "0" "c.11130C>T" "r.(?)" "p.(Ile3710=)" "" "0000912541" "00000115" "30" "8521" "0" "8521" "0" "c.8521A>G" "r.(?)" "p.(Met2841Val)" "" "0000912542" "00000115" "30" "8466" "0" "8466" "0" "c.8466G>A" "r.(?)" "p.(Lys2822=)" "" "0000912543" "00000115" "70" "8312" "0" "8312" "0" "c.8312T>C" "r.(?)" "p.(Val2771Ala)" "" "0000912544" "00000115" "30" "7298" "0" "7298" "0" "c.7298A>T" "r.(?)" "p.(Asp2433Val)" "" "0000912545" "00000115" "50" "5239" "0" "5239" "0" "c.5239T>C" "r.(?)" "p.(Cys1747Arg)" "" "0000912546" "00000115" "30" "5093" "0" "5093" "0" "c.5093A>G" "r.(?)" "p.(Asn1698Ser)" "" "0000912547" "00000115" "30" "3090" "0" "3090" "0" "c.3090G>A" "r.(?)" "p.(Ala1030=)" "" "0000912548" "00000115" "30" "2168" "0" "2168" "0" "c.2168G>T" "r.(?)" "p.(Arg723Leu)" "" "0000912549" "00000115" "50" "1511" "0" "1511" "0" "c.1511A>G" "r.(?)" "p.(Gln504Arg)" "" "0000912550" "00000115" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000924526" "00000115" "90" "9830" "-1" "9830" "-1" "c.9830-1G>A" "r.spl?" "p.?" "" "0000924527" "00000115" "90" "9530" "0" "9530" "0" "c.9530T>C" "r.(?)" "p.(Ile3177Thr)" "" "0000924528" "00000115" "30" "8813" "0" "8813" "0" "c.8813C>T" "r.(?)" "p.(Thr2938Met)" "" "0000924529" "00000115" "10" "8174" "-18" "8174" "-18" "c.8174-18T>A" "r.(=)" "p.(=)" "" "0000924530" "00000115" "30" "7873" "0" "7873" "0" "c.7873T>C" "r.(?)" "p.(Leu2625=)" "" "0000924531" "00000115" "50" "7400" "0" "7400" "0" "c.7400T>C" "r.(?)" "p.(Leu2467Pro)" "" "0000924532" "00000115" "30" "7110" "-7" "7110" "-7" "c.7110-7T>A" "r.(=)" "p.(=)" "" "0000924533" "00000115" "50" "5751" "0" "5751" "0" "c.5751G>A" "r.(?)" "p.(Gln1917=)" "" "0000924534" "00000115" "10" "3876" "0" "3876" "0" "c.3876C>T" "r.(?)" "p.(Thr1292=)" "" "0000924535" "00000115" "30" "3834" "0" "3834" "0" "c.3834C>T" "r.(?)" "p.(Phe1278=)" "" "0000924536" "00000115" "30" "2463" "0" "2463" "0" "c.2463C>G" "r.(?)" "p.(Ala821=)" "" "0000924537" "00000115" "70" "2414" "0" "2414" "0" "c.2414C>T" "r.(?)" "p.(Pro805Leu)" "" "0000924538" "00000115" "30" "2168" "0" "2168" "0" "c.2168G>T" "r.(?)" "p.(Arg723Leu)" "" "0000924539" "00000115" "50" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Pro145Arg)" "" "0000929201" "00000115" "90" "11665" "1" "11665" "1" "c.11665+1G>A" "r.spl?" "p.?" "" "0000929202" "00000115" "30" "7744" "0" "7744" "0" "c.7744C>T" "r.(?)" "p.(Pro2582Ser)" "" "0000929203" "00000115" "30" "3560" "12" "3560" "12" "c.3560+12A>G" "r.(=)" "p.(=)" "" "0000929204" "00000115" "30" "2934" "0" "2934" "0" "c.2934G>A" "r.(?)" "p.(Gln978=)" "" "0000929205" "00000115" "30" "1877" "0" "1877" "0" "c.1877A>G" "r.(?)" "p.(Lys626Arg)" "" "0000929206" "00000115" "30" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Ala109Thr)" "" "0000929207" "00000115" "30" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000933358" "00000115" "90" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Gln1398*)" "32" "0000933360" "00000115" "90" "6809" "-2" "6809" "-2" "c.6809-2A>T" "r.spl" "p.?" "41i" "0000933361" "00000115" "70" "2181" "0" "2181" "0" "c.2181T>G" "r.(?)" "p.(Asn727Lys)" "22" "0000939872" "00000115" "70" "10444" "0" "10444" "0" "c.10444C>T" "r.(?)" "p.(Arg3482Cys)" "61" "0000939902" "00000115" "70" "5521" "0" "5521" "0" "c.5521G>A" "r.(?)" "p.(Glu1841Lys)" "34" "0000948713" "00000115" "30" "11800" "0" "11800" "0" "c.11800G>A" "r.(?)" "p.(Val3934Ile)" "" "0000948714" "00000115" "70" "9230" "0" "9230" "0" "c.9230G>C" "r.(?)" "p.(Trp3077Ser)" "" "0000948716" "00000115" "30" "7298" "0" "7298" "0" "c.7298A>T" "r.(?)" "p.(Asp2433Val)" "" "0000948717" "00000115" "50" "4589" "0" "4589" "0" "c.4589T>A" "r.(?)" "p.(Phe1530Tyr)" "" "0000948718" "00000115" "30" "4009" "0" "4009" "0" "c.4009G>A" "r.(?)" "p.(Asp1337Asn)" "" "0000948719" "00000115" "70" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Gly952Arg)" "" "0000964167" "00000115" "30" "9925" "0" "9925" "0" "c.9925A>G" "r.(?)" "p.(Ile3309Val)" "" "0000964168" "00000115" "10" "9237" "0" "9237" "0" "c.9237G>A" "r.(?)" "p.(=)" "" "0000964170" "00000115" "30" "5235" "0" "5235" "0" "c.5235C>T" "r.(?)" "p.(=)" "" "0000964171" "00000115" "50" "4199" "0" "4199" "0" "c.4199C>T" "r.(?)" "p.(Ser1400Leu)" "" "0000964172" "00000115" "50" "3303" "0" "3303" "0" "c.3303A>G" "r.(?)" "p.(Thr1101=)" "" "0000964173" "00000115" "30" "2726" "0" "2726" "0" "c.2726G>A" "r.(?)" "p.(Arg909Gln)" "" "0000964174" "00000115" "30" "2716" "-12" "2716" "-12" "c.2716-12G>A" "r.(=)" "p.(=)" "" "0000972436" "00000115" "90" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Gly466Arg)" "" "0000972459" "00000115" "90" "1160" "0" "1160" "0" "c.1160A>T" "r.(?)" "p.(Asn387Ile)" "" "0000972462" "00000115" "90" "6840" "0" "6840" "0" "c.6840G>A" "r.(?)" "p.(Trp2280Ter)" "" "0000977277" "00000115" "50" "11123" "0" "11123" "0" "c.11123T>C" "r.(?)" "p.(Met3708Thr)" "" "0000977278" "00000115" "50" "11002" "0" "11002" "0" "c.11002G>T" "r.(?)" "p.(Asp3668Tyr)" "" "0000977279" "00000115" "50" "10916" "0" "10916" "0" "c.10916C>A" "r.(?)" "p.(Pro3639His)" "" "0000977280" "00000115" "50" "10769" "0" "10769" "0" "c.10769T>C" "r.(?)" "p.(Ile3590Thr)" "" "0000977281" "00000115" "50" "10619" "0" "10619" "0" "c.10619A>G" "r.(?)" "p.(Asp3540Gly)" "" "0000977282" "00000115" "50" "10393" "0" "10393" "0" "c.10393A>G" "r.(?)" "p.(Ile3465Val)" "" "0000977283" "00000115" "50" "9868" "0" "9868" "0" "c.9868G>A" "r.(?)" "p.(Asp3290Asn)" "" "0000977284" "00000115" "10" "9829" "10" "9829" "10" "c.9829+10T>G" "r.(=)" "p.(=)" "" "0000977285" "00000115" "90" "9689" "0" "9689" "0" "c.9689del" "r.(?)" "p.(Asp3230ValfsTer34)" "" "0000977286" "00000115" "50" "9662" "0" "9662" "0" "c.9662C>T" "r.(?)" "p.(Pro3221Leu)" "" "0000977287" "00000115" "50" "9615" "0" "9615" "0" "c.9615T>G" "r.(?)" "p.(Ile3205Met)" "" "0000977288" "00000115" "70" "9107" "0" "9107" "0" "c.9107T>G" "r.(?)" "p.(Val3036Gly)" "" "0000977289" "00000115" "10" "8673" "0" "8673" "0" "c.8673C>G" "r.(?)" "p.(Arg2891=)" "" "0000977290" "00000115" "30" "8174" "-10" "8174" "-10" "c.8174-10dup" "r.(=)" "p.(=)" "" "0000977291" "00000115" "30" "7912" "-5" "7912" "-5" "c.7912-5T>G" "r.spl?" "p.?" "" "0000977292" "00000115" "30" "7911" "5" "7911" "5" "c.7911+5C>A" "r.spl?" "p.?" "" "0000977293" "00000115" "50" "7067" "0" "7067" "0" "c.7067C>T" "r.(?)" "p.(Pro2356Leu)" "" "0000977294" "00000115" "50" "5836" "0" "5836" "0" "c.5836G>A" "r.(?)" "p.(Val1946Ile)" "" "0000977295" "00000115" "50" "4540" "0" "4540" "0" "c.4540G>C" "r.(?)" "p.(Asp1514His)" "" "0000977296" "00000115" "30" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Asn1346=)" "" "0000977297" "00000115" "30" "2407" "5" "2407" "5" "c.2407+5A>G" "r.spl?" "p.?" "" "0000977298" "00000115" "30" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Gly448Arg)" "" "0000977299" "00000115" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124*)" "" "0000989987" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000989989" "00000115" "70" "5878" "0" "5878" "0" "c.5878A>G" "r.(?)" "p.(Thr1960Ala)" "" "0000989991" "00000115" "70" "4870" "0" "4870" "0" "c.4870C>T" "r.(?)" "p.(Arg1624Trp)" "" "0000989992" "00000115" "90" "8863" "0" "8863" "0" "c.8863C>T" "r.(?)" "p.(Arg2955Ter)" "" "0000989993" "00000115" "70" "5275" "0" "5275" "0" "c.5275G>C" "r.(?)" "p.(Gly1759Arg)" "" "0000989994" "00000115" "70" "6176" "0" "6176" "0" "c.6176A>T" "r.(?)" "p.(Asp2059Val)" "" "0000995804" "00000115" "50" "12027" "0" "12027" "0" "c.12027C>G" "r.(?)" "p.(Tyr4009Ter)" "" "0000995805" "00000115" "90" "11284" "0" "11284" "0" "c.11284C>A" "r.(?)" "p.(Pro3762Thr)" "" "0000995806" "00000115" "50" "7508" "0" "7508" "0" "c.7508G>A" "r.(?)" "p.(Ser2503Asn)" "" "0000995809" "00000115" "50" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0000995810" "00000115" "30" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Asp220Asn)" "" "0000995811" "00000115" "10" "449" "-9" "449" "-7" "c.449-9_449-7del" "r.(=)" "p.(=)" "" "0001014222" "00000115" "90" "9338" "0" "9338" "0" "c.9338del" "r.(?)" "p.(Ser3113Phefs*49)" "" "0001014223" "00000115" "30" "9237" "0" "9237" "0" "c.9237G>A" "r.(?)" "p.(=)" "" "0001014224" "00000115" "30" "7110" "-7" "7110" "-7" "c.7110-7T>A" "r.(=)" "p.(=)" "" "0001014225" "00000115" "50" "6302" "0" "6302" "0" "c.6302A>T" "r.(?)" "p.(Asp2101Val)" "" "0001014226" "00000115" "10" "3876" "0" "3876" "0" "c.3876C>T" "r.(?)" "p.(Thr1292=)" "" "0001016576" "00000115" "90" "390" "6" "390" "6" "c.390+6T>C" "r.(?)" "p.(?)" "" "0001017271" "00000115" "70" "3467" "0" "3467" "0" "c.3467C>T" "r.(?)" "p.(Ser1156Leu)" "" "0001017272" "00000115" "70" "7350" "653" "7350" "653" "c.7350+653A>G" "r.(7350_7351ins7350+537_7350+652)" "p.(Gly2451fs)" "46i" "0001025237" "00000115" "30" "10870" "0" "10870" "0" "c.10870A>G" "r.(?)" "p.(Thr3624Ala)" "" "0001025238" "00000115" "30" "9492" "0" "9492" "0" "c.9492C>T" "r.(?)" "p.(Ser3164=)" "" "0001025239" "00000115" "10" "7307" "0" "7307" "0" "c.7307C>T" "r.(?)" "p.(Thr2436Ile)" "" "0001025240" "00000115" "50" "6143" "0" "6143" "0" "c.6143T>C" "r.(?)" "p.(Val2048Ala)" "" "0001025241" "00000115" "30" "5768" "0" "5768" "0" "c.5768A>T" "r.(?)" "p.(Gln1923Leu)" "" "0001025242" "00000115" "70" "5380" "1" "5380" "1" "c.5380+1G>A" "r.spl?" "p.?" "" "0001025243" "00000115" "30" "3851" "0" "3851" "0" "c.3851C>T" "r.(?)" "p.(Pro1284Leu)" "" "0001025244" "00000115" "10" "3686" "0" "3686" "0" "c.3686G>C" "r.(?)" "p.(Trp1229Ser)" "" "0001025245" "00000115" "30" "2853" "0" "2853" "0" "c.2853C>T" "r.(?)" "p.(Thr951=)" "" "0001035815" "00000115" "30" "11800" "0" "11800" "0" "c.11800G>A" "r.(?)" "p.(Val3934Ile)" "" "0001035816" "00000115" "50" "11717" "0" "11717" "0" "c.11717A>G" "r.(?)" "p.(His3906Arg)" "" "0001035817" "00000115" "50" "10909" "0" "10909" "0" "c.10909C>T" "r.(?)" "p.(Arg3637Cys)" "" "0001035818" "00000115" "50" "10756" "0" "10756" "0" "c.10756A>G" "r.(?)" "p.(Asn3586Asp)" "" "0001035819" "00000115" "50" "10036" "0" "10036" "0" "c.10036T>C" "r.(?)" "p.(Cys3346Arg)" "" "0001035820" "00000115" "50" "9970" "0" "9970" "0" "c.9970A>G" "r.(?)" "p.(Lys3324Glu)" "" "0001035821" "00000115" "50" "9283" "0" "9283" "0" "c.9283G>C" "r.(?)" "p.(Val3095Leu)" "" "0001035822" "00000115" "50" "7576" "0" "7576" "0" "c.7576G>A" "r.(?)" "p.(Asp2526Asn)" "" "0001035823" "00000115" "30" "7110" "-14" "7110" "-14" "c.7110-14G>A" "r.(=)" "p.(=)" "" "0001035824" "00000115" "90" "6992" "0" "6992" "0" "c.6992T>A" "r.(?)" "p.(Ile2331Lys)" "" "0001035825" "00000115" "30" "6565" "0" "6565" "0" "c.6565G>A" "r.(?)" "p.(Val2189Ile)" "" "0001035826" "00000115" "30" "6267" "0" "6267" "0" "c.6267G>T" "r.(?)" "p.(=)" "" "0001035827" "00000115" "50" "6001" "0" "6001" "0" "c.6001G>A" "r.(?)" "p.(Glu2001Lys)" "" "0001035828" "00000115" "50" "5911" "0" "5911" "0" "c.5911G>A" "r.(?)" "p.(Gly1971Ser)" "" "0001035829" "00000115" "50" "5794" "0" "5794" "0" "c.5794C>A" "r.(?)" "p.(His1932Asn)" "" "0001035831" "00000115" "50" "5602" "0" "5602" "0" "c.5602C>G" "r.(?)" "p.(Pro1868Ala)" "" "0001035832" "00000115" "70" "5498" "0" "5498" "0" "c.5498C>T" "r.(?)" "p.(Ser1833Leu)" "" "0001035833" "00000115" "50" "4655" "0" "4655" "0" "c.4655T>A" "r.(?)" "p.(Val1552Asp)" "" "0001035834" "00000115" "50" "4105" "0" "4105" "0" "c.4105C>T" "r.(?)" "p.(Arg1369Cys)" "" "0001035835" "00000115" "50" "2959" "0" "2959" "0" "c.2959T>A" "r.(?)" "p.(Leu987Met)" "" "0001035836" "00000115" "30" "2408" "-12" "2408" "-12" "c.2408-12C>A" "r.(=)" "p.(=)" "" "0001035837" "00000115" "50" "2372" "0" "2372" "0" "c.2372A>G" "r.(?)" "p.(His791Arg)" "" "0001035838" "00000115" "50" "2172" "0" "2174" "0" "c.2172_2174del" "r.(?)" "p.(Gly726del)" "" "0001035839" "00000115" "50" "2108" "0" "2108" "0" "c.2108A>T" "r.(?)" "p.(Asp703Val)" "" "0001035840" "00000115" "70" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Asp703Asn)" "" "0001035841" "00000115" "90" "353" "0" "353" "0" "c.353del" "r.(?)" "p.(Ser118IlefsTer35)" "" "0001035842" "00000115" "30" "130" "9" "130" "9" "c.130+9G>A" "r.(=)" "p.(=)" "" "0001046067" "00000115" "30" "10156" "22351" "10156" "22351" "c.10156+22351del" "r.(=)" "p.(=)" "" "0001046068" "00000115" "50" "9662" "0" "9662" "0" "c.9662C>T" "r.(?)" "p.(Pro3221Leu)" "" "0001046069" "00000115" "30" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Leu1709Phe)" "" "0001047992" "00000115" "90" "7011" "0" "7011" "0" "c.7011dup" "r.(7011dup)" "p.(Gly2338TrpfsTer41)" "" "0001047994" "00000115" "90" "6111" "0" "6112" "0" "c.6111_6112del" "r.(6111_6112del)" "p.(Leu2039AlafsTer13)" "" "0001047995" "00000115" "90" "9550" "0" "9550" "0" "c.9550dup" "r.(9550dup)" "p.(Tyr3184LeufsTer18)" "" "0001047996" "00000115" "90" "340" "0" "340" "0" "c.340C>T" "r.(340C>T)" "p.(Gln114Ter)" "" "0001048008" "00000115" "90" "7011" "0" "7011" "0" "c.7011dup" "r.(7011dup)" "p.(Gly2338TrpfsTer41)" "" "0001048124" "00000115" "90" "8951" "-1870" "10156" "7053" "c.8951-1870_10156+7053delinsACATTGATACTAAG" "r.?" "p.?" "57i_60i" "0001048444" "00000115" "90" "8797" "62" "9829" "383" "c.8797+62_9829+383del" "r.?" "p.?" "56i_58i" "0001048445" "00000115" "90" "3009" "0" "3097" "14" "c.3009_3097+14del" "r.?" "p.?" "27_27i" "0001048446" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "3" "0001048447" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "3" "0001048448" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "3" "0001048449" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "3" "0001048450" "00000115" "90" "8951" "-1870" "10156" "7053" "c.8951-1870_10156+7053delinsACATTGATACTAAG" "r.?" "p.?" "57i_60i" "0001048451" "00000115" "90" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Met)" "3" "0001048452" "00000115" "90" "8951" "-1870" "10156" "7053" "c.8951-1870_10156+7053delinsACATTGATACTAAG" "r.?" "p.?" "57i_60i" "0001048453" "00000115" "30" "6121" "4049" "6121" "4049" "c.6121+4049C>T" "r.(?)" "p.(=)" "37i" "0001048454" "00000115" "30" "6332" "141" "6332" "141" "c.6332+141A>C" "r.(?)" "p.(=)" "38i" "0001048455" "00000115" "10" "6333" "-164" "6333" "-164" "c.6333-164C>G" "r.(?)" "p.(=)" "38i" "0001048456" "00000115" "30" "10156" "820" "10156" "820" "c.10156+820A>T" "r.(?)" "p.(=)" "60i" "0001048457" "00000115" "10" "10156" "1051" "10156" "1051" "c.10156+1051T>C" "r.(?)" "p.(=)" "60i" "0001048458" "00000115" "10" "10156" "1183" "10156" "1183" "c.10156+1183C>G" "r.(?)" "p.(=)" "60i" "0001048459" "00000115" "10" "10156" "1412" "10156" "1412" "c.10156+1412G>C" "r.(?)" "p.(=)" "60i" "0001048460" "00000115" "10" "10156" "1475" "10156" "1475" "c.10156+1475C>T" "r.(?)" "p.(=)" "60i" "0001048461" "00000115" "10" "10157" "-22151" "10157" "-22151" "c.10157-22151A>T" "r.(?)" "p.(=)" "60i" "0001048462" "00000115" "10" "10157" "-21445" "10157" "-21445" "c.10157-21445G>A" "r.(?)" "p.(=)" "60i" "0001048463" "00000115" "30" "10157" "-21379" "10157" "-21379" "c.10157-21379C>T" "r.(?)" "p.(=)" "60i" "0001048464" "00000115" "10" "10157" "-21356" "10157" "-21356" "c.10157-21356C>G" "r.(?)" "p.(=)" "60i" "0001048465" "00000115" "10" "10157" "-20993" "10157" "-20993" "c.10157-20993G>C" "r.(?)" "p.(=)" "60i" "0001048470" "00000115" "10" "51" "0" "51" "0" "c.51A>G" "r.spl?" "p.(Ala17=)" "2" "0001048471" "00000115" "10" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Leu72=)" "4" "0001048472" "00000115" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Asp78=)" "4" "0001048473" "00000115" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Glu333=)" "14" "0001048474" "00000115" "10" "1122" "0" "1122" "0" "c.1122A>C" "r.(?)" "p.(Ala374=)" "15" "0001048475" "00000115" "10" "1185" "0" "1185" "0" "c.1185T>C" "r.(?)" "p.(Asp395=)" "15" "0001048476" "00000115" "10" "1587" "0" "1587" "0" "c.1587T>C" "r.(?)" "p.(Asn529=)" "17" "0001048477" "00000115" "10" "1950" "0" "1950" "0" "c.1950G>A" "r.(?)" "p.(Arg650=)" "20" "0001048478" "00000115" "10" "2046" "0" "2046" "0" "c.2046A>C" "r.(?)" "p.(Pro682=)" "21" "0001048479" "00000115" "10" "2853" "0" "2853" "0" "c.2853C>T" "r.(?)" "p.(Thr951=)" "27" "0001048480" "00000115" "10" "3393" "0" "3393" "0" "c.3393G>A" "r.(?)" "p.(Ala1131=)" "30" "0001048481" "00000115" "10" "3537" "0" "3537" "0" "c.3537T>C" "r.(?)" "p.(Asn1179=)" "30" "0001048482" "00000115" "10" "3756" "0" "3756" "0" "c.3756G>C" "r.(?)" "p.(Leu1252=)" "32" "0001048483" "00000115" "10" "4035" "0" "4035" "0" "c.4035C>A" "r.(?)" "p.(Gly1345=)" "32" "0001048484" "00000115" "10" "4920" "0" "4920" "0" "c.4920A>C" "r.(?)" "p.(Val1640=)" "32" "0001048485" "00000115" "10" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Leu1966=)" "36" "0001048486" "00000115" "10" "6462" "0" "6462" "0" "c.6462T>C" "r.(?)" "p.(Val2154=)" "39" "0001048487" "00000115" "10" "6636" "0" "6636" "0" "c.6636C>T" "r.(?)" "p.(Ala2212=)" "40" "0001048488" "00000115" "10" "6777" "0" "6777" "0" "c.6777C>T" "r.(?)" "p.(Phe2259=)" "41" "0001048489" "00000115" "10" "6900" "0" "6900" "0" "c.6900C>T" "r.(?)" "p.(Asn2300=)" "43" "0001048490" "00000115" "10" "7587" "0" "7587" "0" "c.7587G>A" "r.(?)" "p.(Gly2529=)" "48" "0001048491" "00000115" "10" "7764" "0" "7764" "0" "c.7764A>G" "r.(?)" "p.(Leu2588=)" "49" "0001048492" "00000115" "10" "8673" "0" "8673" "0" "c.8673C>G" "r.(?)" "p.(Arg2891=)" "56" "0001048493" "00000115" "10" "9237" "0" "9237" "0" "c.9237G>A" "r.(?)" "p.(Ala3079=)" "58" "0001048494" "00000115" "10" "9492" "0" "9492" "0" "c.9492C>T" "r.(?)" "p.(Ser3164=)" "58" "0001048495" "00000115" "10" "10434" "0" "10434" "0" "c.10434T>A" "r.(?)" "p.(Pro3478=)" "61" "0001048496" "00000115" "10" "10521" "0" "10521" "0" "c.10521C>T" "r.(?)" "p.(His3507=)" "61" "0001048497" "00000115" "10" "11340" "0" "11340" "0" "c.11340T>C" "r.(?)" "p.(Pro3780=)" "63" "0001048498" "00000115" "10" "1463" "0" "1463" "0" "c.1463G>C" "r.(?)" "p.(Arg488Pro)" "16" "0001048499" "00000115" "10" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Thr579Met)" "19" "0001048500" "00000115" "10" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Pro724Ser)" "22" "0001048501" "00000115" "10" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "22" "0001048502" "00000115" "10" "2489" "0" "2489" "0" "c.2489A>G" "r.(?)" "p.(Asn830Ser)" "24" "0001048503" "00000115" "10" "3407" "0" "3407" "0" "c.3407A>G" "r.(?)" "p.(Tyr1136Cys)" "30" "0001048504" "00000115" "10" "3785" "0" "3785" "0" "c.3785C>T" "r.(?)" "p.(Ala1262Val)" "32" "0001048505" "00000115" "10" "8345" "0" "8345" "0" "c.8345G>C" "r.(?)" "p.(Gly2782Ala)" "53" "0001048506" "00000115" "10" "8606" "0" "8606" "0" "c.8606C>A" "r.(?)" "p.(Thr2869Lys)" "55" "0001048507" "00000115" "10" "9215" "0" "9215" "0" "c.9215C>T" "r.(?)" "p.(Ala3072Val)" "58" "0001048508" "00000115" "10" "9262" "0" "9262" "0" "c.9262G>A" "r.(?)" "p.(Asp3088Asn)" "58" "0001048509" "00000115" "10" "9320" "0" "9320" "0" "c.9320G>C" "r.(?)" "p.(Arg3107Pro)" "58" "0001048510" "00000115" "10" "9415" "0" "9415" "0" "c.9415G>T" "r.(?)" "p.(Asp3139Tyr)" "58" "0001048511" "00000115" "10" "9577" "0" "9577" "0" "c.9577G>A" "r.(?)" "p.(Val3193Ile)" "59" "0001048512" "00000115" "10" "10515" "0" "10515" "0" "c.10515C>T" "r.(?)" "p.(Ser3505=)" "61" "0001048513" "00000115" "10" "11525" "0" "11525" "0" "c.11525G>T" "r.(?)" "p.(Arg3842Leu)" "65" "0001048514" "00000115" "10" "11696" "0" "11696" "0" "c.11696A>G" "r.(?)" "p.(Gln3899Arg)" "66" "0001048515" "00000115" "10" "11714" "0" "11714" "0" "c.11714T>A" "r.(?)" "p.(Ile3905Asn)" "66" "0001048516" "00000115" "10" "11878" "0" "11878" "0" "c.11878G>A" "r.(?)" "p.(Val3960Ile)" "67" "0001048517" "00000115" "10" "12143" "0" "12143" "0" "c.12143A>G" "r.(?)" "p.(Gln4048Arg)" "67" "0001048518" "00000115" "10" "53" "-24" "53" "-24" "c.53-24A>G" "r.(?)" "p.(=)" "2i" "0001048519" "00000115" "10" "527" "19" "527" "19" "c.527+19T>C" "r.(?)" "p.(=)" "7i" "0001048520" "00000115" "10" "667" "18" "667" "18" "c.667+18C>T" "r.(?)" "p.(=)" "9i" "0001048521" "00000115" "10" "668" "-30" "668" "-30" "c.668-30T>C" "r.(?)" "p.(=)" "9i" "0001048522" "00000115" "10" "1234" "-10" "1234" "-10" "c.1234-10T>A" "r.(?)" "p.(=)" "15i" "0001048523" "00000115" "10" "1234" "-5" "1234" "-5" "c.1234-5C>T" "r.(?)" "p.(=)" "15i" "0001048524" "00000115" "10" "1694" "-33" "1694" "-33" "c.1694-33C>G" "r.(?)" "p.(=)" "18i" "0001048525" "00000115" "10" "1837" "-23" "1837" "-23" "c.1837-23A>G" "r.(?)" "p.(=)" "19i" "0001048526" "00000115" "10" "2279" "13" "2279" "13" "c.2279+13T>G" "r.(?)" "p.(=)" "22i" "0001048527" "00000115" "10" "2280" "-35" "2280" "-35" "c.2280-35C>A" "r.(?)" "p.(=)" "22i" "0001048528" "00000115" "10" "2407" "50" "2407" "50" "c.2407+50C>T" "r.(?)" "p.(=)" "23i" "0001048529" "00000115" "10" "3365" "-6" "3365" "-6" "c.3365-6A>G" "r.(?)" "p.(=)" "29i" "0001048530" "00000115" "10" "5236" "14" "5236" "14" "c.5236+14A>G" "r.(?)" "p.(=)" "32i" "0001048531" "00000115" "10" "5752" "-18" "5752" "-18" "c.5752-18del" "r.(?)" "p.(=)" "35i" "0001048532" "00000115" "30" "6122" "-9" "6122" "-9" "c.6122-9C>G" "r.spl?" "p.(?)" "37i" "0001048533" "00000115" "30" "7351" "-8" "7351" "-8" "c.7351-8A>T" "r.spl?" "p.(?)" "46i" "0001048534" "00000115" "10" "7734" "-21" "7734" "-20" "c.7734-21_7734-20dup" "r.(?)" "p.(=)" "48i" "0001048535" "00000115" "10" "7734" "-4" "7734" "-4" "c.7734-4T>C" "r.(?)" "p.(=)" "48i" "0001048536" "00000115" "30" "7912" "-5" "7912" "-5" "c.7912-5T>G" "r.spl?" "p.(?)" "49i" "0001048537" "00000115" "10" "8302" "12" "8302" "12" "c.8302+12T>A" "r.(?)" "p.(=)" "52i" "0001048538" "00000115" "10" "8441" "-32" "8441" "-32" "c.8441-32G>C" "r.(?)" "p.(=)" "53i" "0001048539" "00000115" "10" "8643" "-73" "8643" "-73" "c.8643-73C>T" "r.(?)" "p.(=)" "54i" "0001048540" "00000115" "10" "8643" "-24" "8643" "-24" "c.8643-24A>G" "r.(?)" "p.(=)" "54i" "0001048541" "00000115" "10" "8798" "-19" "8798" "-19" "c.8798-19A>C" "r.(?)" "p.(=)" "55i" "0001048542" "00000115" "10" "8797" "19" "8797" "19" "c.8797+19A>C" "r.(?)" "p.(=)" "57i" "0001048543" "00000115" "10" "9829" "70" "9829" "70" "c.9829+70T>G" "r.(?)" "p.(=)" "58i" "0001048544" "00000115" "10" "11174" "10" "11174" "10" "c.11174+10A>G" "r.(?)" "p.(=)" "61i" "0001048545" "00000115" "10" "11174" "11" "11174" "11" "c.11174+11A>G" "r.(?)" "p.(=)" "61i" "0001048546" "00000115" "10" "11174" "26" "11174" "26" "c.11174+26A>G" "r.(?)" "p.(=)" "61i" "0001048547" "00000115" "10" "11310" "19" "11310" "19" "c.11310+19C>T" "r.(?)" "p.(=)" "62i" "0001048548" "00000115" "10" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Leu72=)" "4" "0001048549" "00000115" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Asp78=)" "4" "0001048550" "00000115" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Glu333=)" "14" "0001048551" "00000115" "10" "1185" "0" "1185" "0" "c.1185T>C" "r.(?)" "p.(Asp395=)" "15" "0001048552" "00000115" "10" "1587" "0" "1587" "0" "c.1587T>C" "r.(?)" "p.(Asn529=)" "17" "0001048553" "00000115" "10" "2046" "0" "2046" "0" "c.2046A>C" "r.(?)" "p.(Pro682=)" "21" "0001048554" "00000115" "10" "2853" "0" "2853" "0" "c.2853C>T" "r.(?)" "p.(Thr951=)" "27" "0001048555" "00000115" "10" "3393" "0" "3393" "0" "c.3393G>A" "r.(?)" "p.(Ala1131=)" "30" "0001048556" "00000115" "10" "3537" "0" "3537" "0" "c.3537T>C" "r.(?)" "p.(Asn1179=)" "30" "0001048557" "00000115" "10" "3756" "0" "3756" "0" "c.3756G>C" "r.(?)" "p.(Leu1252=)" "32" "0001048558" "00000115" "10" "4920" "0" "4920" "0" "c.4920A>C" "r.(?)" "p.(Val1640=)" "32" "0001048559" "00000115" "10" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Leu1966=)" "36" "0001048560" "00000115" "10" "6777" "0" "6777" "0" "c.6777C>T" "r.(?)" "p.(Phe2259=)" "41" "0001048561" "00000115" "10" "6900" "0" "6900" "0" "c.6900C>T" "r.(?)" "p.(Asn2300=)" "43" "0001048562" "00000115" "10" "7587" "0" "7587" "0" "c.7587G>A" "r.(?)" "p.(Gly2529=)" "48" "0001048563" "00000115" "10" "7764" "0" "7764" "0" "c.7764A>G" "r.(?)" "p.(Leu2588=)" "49" "0001048564" "00000115" "10" "8673" "0" "8673" "0" "c.8673C>G" "r.(?)" "p.(Arg2891=)" "56" "0001048565" "00000115" "10" "9237" "0" "9237" "0" "c.9237G>A" "r.(?)" "p.(Ala3079=)" "58" "0001048566" "00000115" "10" "9492" "0" "9492" "0" "c.9492C>T" "r.(?)" "p.(Ser3164=)" "58" "0001048567" "00000115" "10" "10434" "0" "10434" "0" "c.10434T>A" "r.(?)" "p.(Pro3478=)" "61" "0001048568" "00000115" "10" "10521" "0" "10521" "0" "c.10521C>T" "r.(?)" "p.(His3507=)" "61" "0001048569" "00000115" "10" "11340" "0" "11340" "0" "c.11340T>C" "r.(?)" "p.(Pro3780=)" "63" "0001048570" "00000115" "10" "1463" "0" "1463" "0" "c.1463G>C" "r.(?)" "p.(Arg488Pro)" "16" "0001048571" "00000115" "10" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Thr579Met)" "19" "0001048572" "00000115" "10" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Pro724Ser)" "22" "0001048573" "00000115" "10" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "22" "0001048574" "00000115" "10" "2489" "0" "2489" "0" "c.2489A>G" "r.(?)" 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