### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYPN) # 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}}" "MYPN" "myopalladin" "10" "q22.1" "unknown" "LRG_410" "UD_134408254204" "" "https://www.LOVD.nl/MYPN" "" "1" "23246" "84665" "608517" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MYPN_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-01-04 00:00:00" "00006" "2018-12-29 12:28:29" "00000" "2025-07-08 13:22:38" ## 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}}" "00014206" "MYPN" "transcript variant 1" "004" "NM_032578.3" "" "NP_115967.2" "" "" "" "-292" "5525" "3963" "69869190" "69971774" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00365" "PPCM" "cardiomyopathy, peripartum (PPCM)" "" "" "" "" "" "00006" "2014-03-30 03:16:23" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03868" "CMD1KK;CMH22;RCM4" "cardiomyopathy, dilated, type 1KK (CMD-1KK, hypertrophic type 22 (CHM-22), restrictive (RCM-4))" "AD" "615248" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05098" "RCM" "cardiomyopathy, restrictive (RCM)" "" "" "" "" "" "00006" "2015-10-31 13:09:49" "00006" "2018-12-27 11:15:08" "06080" "NEM11" "Nemaline myopathy 11, autosomal recessive" "AR" "617336" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MYPN" "03868" "MYPN" "06080" ## Individuals ## Do not remove or alter this header ## ## Count = 124 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00016142" "" "" "" "1" "" "00668" "{PMID:Vrijenhoek 2015:25626705}, {DOI:Vrijenhoek 2015:10.1038/ejhg.2014.279}" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00043788" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "F" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00058469" "" "" "" "4" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "2-generation family, 4 affecteds" "F" "" "South Africa" "" "0" "" "" "" "" "00143770" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00163884" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "2-generation family, 1 affected (M), 1 unaffected (M)" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00183403" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "F" "?" "" "" "0" "" "" "" "Patient XV" "00212549" "" "" "" "2" "" "00006" "{PMID:Bagnall 2010:20801532}" "2-generation family, unaffected carrier mother" "M" "" "Australia" ">21y" "0" "" "" "" "20801532-PatAA1" "00212550" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "sibling of JC31380" "F" "" "" ">35y" "0" "" "" "white" "22286171-PatMC31379" "00212551" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "sibling of JC31379" "F" "" "" ">38y" "0" "" "" "white" "22286171-PatJC31380" "00216862" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "3-generation family, 2 affecteds, 2 unaffected carriers" "F" "" "France" ">65y" "0" "" "" "European" "18006477-FamAII1" "00216863" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "3-generation family, 2 affecteds, 2 unaffected carriers" "M" "" "France" "47y" "0" "" "" "European" "18006477-FamAII4" "00216864" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "3-generation family, 2 affecteds, 2 unaffected carriers" "F" "" "France" ">38y" "0" "" "" "European" "18006477-FamAIII1" "00216865" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "3-generation family, 2 affecteds, 2 unaffected carriers" "M" "" "France" "20y" "0" "" "" "European" "18006477-FamAIII2" "00216866" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "3-generation family, 2 affecteds, 2 unaffected carriers" "M" "" "France" ">37y" "0" "" "" "European" "18006477-FamAIII4" "00216867" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "4-generation family, 5 affecteds" "M" "" "France" "55y" "0" "" "" "European" "18006477-FamBII2" "00216868" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "4-generation family, 5 affecteds" "M" "" "France" ">53y" "0" "" "" "European" "18006477-FamBII3" "00216869" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "4-generation family, 5 affecteds" "M" "" "France" "29y" "0" "" "" "European" "18006477-FamBIII1" "00216870" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "4-generation family, 5 affecteds" "F" "" "France" ">18y" "0" "" "" "European" "18006477-FamBIV1" "00216871" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "2-generation family, 1 affected" "M" "" "France" ">38y" "0" "" "" "European" "18006477-FamCII1" "00216872" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "2-generation family, 1 affected" "M" "" "France" ">58y" "0" "" "" "European" "18006477-FamDII1" "00216873" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216874" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216875" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216876" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216877" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216878" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216879" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216880" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216881" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216882" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216883" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216884" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216885" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216886" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216887" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216888" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216889" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216890" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "" "France" "" "0" "" "" "" "18006477-c" "00216891" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "M" "" "(United States)" ">59y" "0" "" "" "white" "22286171-PatVIII" "00216892" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "F" "" "Japan" ">53y" "0" "" "" "Asian" "22286171-PatII" "00216893" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "F" "" "Japan" ">44y" "0" "" "" "Asian" "22286171-PatIII" "00216894" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "M" "" "Japan" ">50y" "0" "" "" "Asian" "22286171-PatI" "00216895" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "2-generation family, mother/2 children" "M" "" "Japan" ">22y" "0" "" "" "Asian" "22286171-PatCM1023m" "00216896" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "2 siblings," "M" "" "Japan" ">22y" "0" "" "" "Asian" "22286171-PatCM1023" "00216897" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "2 siblings" "F" "" "" ">19y" "0" "" "" "" "22286171-PatCM1024" "00216898" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "F" "" "" ">54y" "0" "" "" "white" "22286171-PatIV" "00216899" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "M" "" "" ">59y" "0" "" "" "white" "22286171-PatV" "00216900" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "M" "" "United States" ">63y" "0" "" "" "American-Indian;Alaskan" "22286171-PatVI" "00216901" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "F" "" "" ">64y" "0" "" "" "white" "22286171-PatVII" "00216902" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "M" "" "" ">58y" "0" "" "" "white" "22286171-PatH558307" "00216903" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "M" "" "" ">10y" "0" "" "" "white" "22286171-PatKA22974" "00216904" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "F" "" "" ">27y" "0" "" "" "white" "22286171-Pat16017" "00216905" "" "" "" "1" "" "00008" "{PMID:Purevjav 2012:22286171}" "" "F" "" "" ">17y" "0" "" "" "white" "22286171-Pat08V3294" "00216906" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216907" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216908" "" "" "" "12" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216909" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216910" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216911" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216912" "" "" "" "35" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216913" "" "" "" "7" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216914" "" "" "" "6" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216915" "" "" "" "2" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216916" "" "" "" "2" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216917" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216918" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216919" "" "" "" "6" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216920" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216921" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-cons" "00216922" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216923" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216924" "" "" "" "10" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216925" "" "" "" "5" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216926" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216927" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216928" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216929" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216930" "" "" "" "17" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216931" "" "" "" "18" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216932" "" "" "" "15" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216933" "" "" "" "886" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216934" "" "" "" "7" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216935" "" "" "" "3" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216936" "" "" "" "4" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216937" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216938" "" "" "" "2" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216939" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216940" "" "" "" "4" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216941" "" "" "" "2" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216942" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "22286171-pats" "00216943" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "2-generation family, 1 affected, mother died of heart failure" "M" "" "" ">44y" "0" "" "" "white" "22892539-Pat1" "00216944" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "3-generation family, 1 affected, maternal uncle died of heart failure" "M" "" "" ">33y" "0" "" "" "white" "22892539-Pat2" "00216945" "" "" "" "9" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216946" "" "" "" "44" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216947" "" "" "" "6" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216948" "" "" "" "2" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216949" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216950" "" "" "" "5" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216951" "" "" "" "2" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216952" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216953" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216954" "" "" "" "72" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216955" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216956" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216957" "" "" "" "163" "" "00006" "{PMID:Meyer 2013:22892539}" "" "" "" "" "" "0" "" "" "" "22892539-Pats" "00216958" "" "" "" "1" "" "00006" "{PMID:Purevjav 2012:22286171}" "" "" "" "" "" "0" "" "" "" "" "00216959" "" "" "" "1" "" "00006" "{PMID:Jiao 2010:20812196}" "" "" "" "" "" "0" "" "" "" "" "00290086" "" "" "" "157" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290087" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290089" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290091" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295116" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296717" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "African American" "NCG_00661" "00304254" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00418362" "" "" "" "1" "" "00006" "{PMID:Reinstein 2016:27329731}" "" "M" "" "Israel" "" "0" "" "" "Jew-Ashkenazi;Libya" "patient" "00446750" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat13" "00446751" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat15" "00446789" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat69" "00446812" "" "" "" "2" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case solved" "" "" "" "" "0" "" "" "" "FamIPat99" "00446830" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat124" "00446843" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat142" "00446880" "" "" "00446812" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case solved" "" "" "" "" "0" "" "" "" "FamIPat159" "00453139" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam237Pat254" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 124 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00016142" "00351" "00043788" "02087" "00058469" "00365" "00143770" "00198" "00163884" "00352" "00183403" "00244" "00212549" "00351" "00212550" "00352" "00212551" "00352" "00216862" "00352" "00216863" "00352" "00216864" "00198" "00216865" "00352" "00216866" "00198" "00216867" "00352" "00216868" "00352" "00216869" "00352" "00216870" "00352" "00216871" "00352" "00216872" "00352" "00216873" "00198" "00216874" "00198" "00216875" "00198" "00216876" "00198" "00216877" "00198" "00216878" "00198" "00216879" "00198" "00216880" "00198" "00216881" "00198" "00216882" "00198" "00216883" "00198" "00216884" "00198" "00216885" "00198" "00216886" "00198" "00216887" "00198" "00216888" "00198" "00216889" "00198" "00216890" "00198" "00216891" "00351" "00216892" "00351" "00216893" "00351" "00216894" "00351" "00216895" "00198" "00216896" "05098" "00216897" "05098" "00216898" "00351" "00216899" "00351" "00216900" "00351" "00216901" "00351" "00216902" "00352" "00216903" "00352" "00216904" "00352" "00216905" "00352" "00216906" "00198" "00216907" "00198" "00216908" "00198" "00216909" "00198" "00216910" "00198" "00216911" "00198" "00216912" "00198" "00216913" "00198" "00216914" "00198" "00216915" "00198" "00216916" "00198" "00216917" "00198" "00216918" "00198" "00216919" "00198" "00216920" "00198" "00216921" "00198" "00216922" "04172" "00216923" "04172" "00216924" "04172" "00216925" "04172" "00216926" "04172" "00216927" "04172" "00216928" "04172" "00216929" "04172" "00216930" "04172" "00216931" "04172" "00216932" "04172" "00216933" "04172" "00216934" "04172" "00216935" "04172" "00216936" "04172" "00216937" "04172" "00216938" "04172" "00216939" "04172" "00216940" "04172" "00216941" "04172" "00216942" "04172" "00216943" "00352" "00216944" "00352" "00216945" "00352" "00216946" "00352" "00216947" "00352" "00216948" "00352" "00216949" "00352" "00216950" "00352" "00216951" "00352" "00216952" "00352" "00216953" "00352" "00216954" "00352" "00216955" "00352" "00216956" "00352" "00216957" "00352" "00216958" "00198" "00216959" "00198" "00290086" "00198" "00290087" "00198" "00290089" "00198" "00290091" "00198" "00295116" "00198" "00296717" "00198" "00304254" "00198" "00418362" "00139" "00446750" "04173" "00446751" "04173" "00446789" "04173" "00446812" "04173" "00446830" "04173" "00446843" "04173" "00446880" "04173" "00453139" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 00351, 00352, 00365, 01157, 02087, 03868, 04172, 04173, 05098, 06080 ## Count = 118 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014927" "00351" "00016142" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000045100" "00365" "00058469" "00006" "Familial" "" "2 cases mild DCM, 2 cases peripartum cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000050833" "02087" "00043788" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116540" "00198" "00143770" "01807" "Unknown" "" "HP:0001644 (Dilated cardiomyopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000128996" "00352" "00163884" "02438" "Isolated (sporadic)" "25y" "" "23y" "23y" "palpitations (HP:0001962)" "" "" "" "" "" "" "" "" "0000161031" "00351" "00212549" "00006" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "CMH-1" "hypertrophic cardiomyopathy" "" "0000161032" "00352" "00212550" "00008" "Familial" "" "treatment: lesinopril and metoprolol" "42d" "" "" "" "" "" "" "" "CMD-1S" "dilated cardiomyopathy" "" "0000161033" "00352" "00212551" "00008" "Familial" "" "treatment: metoprolol" "9y" "" "" "" "" "" "" "" "CMD-1S" "dilated cardiomyopathy" "" "0000165313" "00352" "00216862" "00006" "Familial" "" "32y-nodal tachycardia; 62y-CHF; CPK not elevated (-HP:0003236)" "62y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165314" "00352" "00216863" "00006" "Familial" "" "non-cardiac death (crash)" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165315" "00198" "00216864" "00006" "Familial" "" "healthy" "" "" "" "" "" "" "" "" "" "-" "" "0000165316" "00352" "00216865" "00006" "Familial" "" "DCM, mitral valve prolapse with important mitral regurgitation; 20y-CHF while waiting for heart transplant" "20y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165317" "00198" "00216866" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165318" "00352" "00216867" "00006" "Familial" "" "52y-alcoholism, CHF, atrial fibrillation; 55y-ischaemic CVA, CHF, cardiac death" "51y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165319" "00352" "00216868" "00006" "Familial" "" "alcoholism, DCM diagnosed during genetic inquest" "53y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165320" "00352" "00216869" "00006" "Familial" "" "initial diagnosis myocarditis with CHF; 29y-death refractory CHF" "29y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165321" "00352" "00216870" "00006" "Familial" "" "interatrial defect; CPK not elevated (-HP:0003236)" "13y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165322" "00352" "00216871" "00006" "Isolated (sporadic)" "" "CPK not elevated (-HP:0003236)" "36y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165323" "00352" "00216872" "00006" "Isolated (sporadic)" "" "mild alcoholism; CPK not elevated (-HP:0003236)" "58y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165324" "00198" "00216873" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165325" "00198" "00216874" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165326" "00198" "00216875" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165327" "00198" "00216876" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165328" "00198" "00216877" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165329" "00198" "00216878" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165330" "00198" "00216879" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165331" "00198" "00216880" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165332" "00198" "00216881" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165333" "00198" "00216882" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165334" "00198" "00216883" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165335" "00198" "00216884" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165336" "00198" "00216885" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165337" "00198" "00216886" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165338" "00198" "00216887" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165339" "00198" "00216888" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165340" "00198" "00216889" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165341" "00198" "00216890" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165342" "00351" "00216891" "00008" "Isolated (sporadic)" "" "pacemarker" "45y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165343" "00351" "00216892" "00008" "Familial" "" "" "24y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165344" "00351" "00216893" "00008" "Familial" "" "" "28y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165345" "00351" "00216894" "00008" "Familial" "" "myoectomy" "29y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165346" "00198" "00216895" "00008" "Familial" "" "aortic regurgitation, no RCM" "7y" "" "" "" "" "" "" "" "" "-" "" "0000165347" "05098" "00216896" "00008" "Familial" "" "mitral regurgitation (MR), tricuspid regurgitation (TR), atrial fibrillation (AF), 11 years, heart transplant" "7y" "" "" "" "" "" "" "" "CMD-1KK" "restrictive cardiomyopathy" "" "0000165348" "05098" "00216897" "00008" "Familial" "" "mitral regurgitation (MR), 9 years, heart transplant" "8y" "" "" "" "" "" "" "" "CMD-1KK" "restrictive cardiomyopathy" "" "0000165349" "00351" "00216898" "00008" "Familial" "" "" "47y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165350" "00351" "00216899" "00008" "Familial" "" "" "50y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165351" "00351" "00216900" "00008" "Isolated (sporadic)" "" "myoectomy" "46y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165352" "00351" "00216901" "00008" "Isolated (sporadic)" "" "" "55y" "" "" "" "" "" "" "" "CMD-1KK" "hypertrophic cardiomyopathy" "" "0000165353" "00352" "00216902" "00008" "Isolated (sporadic)" "" "atrial fibrillation (AF), Holter-salvo VT 7 bts" "52y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165354" "00352" "00216903" "00008" "Familial" "" "" "0y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165355" "00352" "00216904" "00008" "Familial" "" "mother had heart transplant" "11y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165356" "00352" "00216905" "00008" "Familial" "" "" "13y" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165357" "00198" "00216906" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165358" "00198" "00216907" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165359" "00198" "00216908" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165360" "00198" "00216909" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165361" "00198" "00216910" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165362" "00198" "00216911" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165363" "00198" "00216912" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165364" "00198" "00216913" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165365" "00198" "00216914" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165366" "00198" "00216915" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165367" "00198" "00216916" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165368" "00198" "00216917" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165369" "00198" "00216918" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165370" "00198" "00216919" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165371" "00198" "00216920" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165372" "00198" "00216921" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000165373" "04172" "00216922" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165374" "04172" "00216923" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165375" "04172" "00216924" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165376" "04172" "00216925" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165377" "04172" "00216926" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165378" "04172" "00216927" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165379" "04172" "00216928" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165380" "04172" "00216929" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165381" "04172" "00216930" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165382" "04172" "00216931" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165383" "04172" "00216932" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165384" "04172" "00216933" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165385" "04172" "00216934" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165386" "04172" "00216935" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165387" "04172" "00216936" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165388" "04172" "00216937" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165389" "04172" "00216938" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165390" "04172" "00216939" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165391" "04172" "00216940" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165392" "04172" "00216941" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165393" "04172" "00216942" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000165394" "00352" "00216943" "00006" "Familial" "" "LVEF 0.24, LVEDD 68mm" "" "" "reduced left-ventricular function" "IHC MYPN/alpha-actinin staining normal" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165395" "00352" "00216944" "00006" "Familial" "" "severely compromised left-ventricular systolic function with reduced LVEF (0.15), increased LVEDD (82mm)" "" "" "" "IHC MYPN/alpha-actinin no sarcomere staining, severly disrupted sarcomeric architecture" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165396" "00352" "00216945" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165397" "00352" "00216946" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165398" "00352" "00216947" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165399" "00352" "00216948" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165400" "00352" "00216949" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165401" "00352" "00216950" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165402" "00352" "00216951" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165403" "00352" "00216952" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165404" "00352" "00216953" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165405" "00352" "00216954" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165406" "00352" "00216955" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165407" "00352" "00216956" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165408" "00352" "00216957" "00006" "-" "" "" "" "" "" "" "" "" "" "" "CMD-1KK" "dilated cardiomyopathy" "" "0000165409" "00198" "00216958" "00006" "Familial" "" "6m-cardiac enlargement, severe concentric hypertrophy/dilation both ventricules" "" "" "" "" "" "" "" "" "" "animal model" "" "0000165410" "00198" "00216959" "00006" "Familial" "" "associated with meat quality, highr mean values for loin-eye area/water holding capacity" "" "" "" "" "" "" "" "" "" "animal model" "" "0000171333" "00244" "00183403" "00006" "Unknown" "" "onset juvenile, proximal weakness, weakness in posterior muscles and quadriceps and distal in lower limbs, elevated CPK (1-10x), EMG myopathic; biopsy aspecific, internal nuclei; slight cardiac hypertrophy" "" "" "proximal weakness" "" "" "" "" "" "" "myopathy" "" "0000224117" "00198" "00296717" "00006" "Unknown" "60y" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000309731" "00139" "00418362" "00006" "Isolated (sporadic)" "17y" "see paper; ..., intellectual disability, developmental delay, dysmorphism, non-compaction cardiomyopathy" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" "0000335954" "04173" "00446750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000335955" "04173" "00446751" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335993" "04173" "00446789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336016" "04173" "00446812" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336034" "04173" "00446830" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336047" "04173" "00446843" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336084" "04173" "00446880" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341785" "04172" "00453139" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 124 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000016264" "00016142" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000044031" "00043788" "1" "01337" "01337" "2015-06-19 14:40:10" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000058432" "00058469" "1" "00006" "00006" "2014-03-29 23:50:36" "00006" "2016-01-26 23:55:50" "SEQ-NG-I" "DNA" "" "" "0000144629" "00143770" "0" "01807" "01807" "2017-12-05 16:03:05" "" "" "SEQ" "DNA" "" "" "0000164748" "00163884" "1" "02438" "02438" "2018-04-22 18:19:58" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000184371" "00183403" "1" "02947" "02947" "2018-10-25 15:24:22" "" "" "arrayCGH" "DNA" "" "" "0000213625" "00212549" "1" "00006" "00006" "2012-04-06 19:06:29" "00006" "2013-12-28 11:09:54" "SEQ" "DNA" "" "" "0000213626" "00212550" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000213627" "00212551" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217931" "00216862" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000217932" "00216863" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217933" "00216864" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217934" "00216865" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217935" "00216866" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217936" "00216867" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217937" "00216868" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217938" "00216869" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217939" "00216870" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217940" "00216871" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217941" "00216872" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217942" "00216873" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217943" "00216874" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217944" "00216875" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217945" "00216876" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217946" "00216877" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217947" "00216878" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217948" "00216879" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217949" "00216880" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217950" "00216881" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217951" "00216882" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217952" "00216883" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217953" "00216884" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217954" "00216885" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217955" "00216886" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217956" "00216887" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217957" "00216888" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217958" "00216889" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217959" "00216890" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000217960" "00216891" "1" "00008" "00006" "2012-04-16 13:47:04" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217961" "00216892" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217962" "00216893" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217963" "00216894" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217964" "00216895" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217965" "00216896" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217966" "00216897" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;RT-PCR;SEQ" "DNA;RNA" "" "" "0000217967" "00216898" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217968" "00216899" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217969" "00216900" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217970" "00216901" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217971" "00216902" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217972" "00216903" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217973" "00216904" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217974" "00216905" "1" "00008" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000217975" "00216906" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217976" "00216907" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217977" "00216908" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217978" "00216909" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217979" "00216910" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217980" "00216911" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217981" "00216912" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217982" "00216913" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217983" "00216914" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217984" "00216915" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217985" "00216916" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217986" "00216917" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217987" "00216918" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217988" "00216919" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217989" "00216920" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217990" "00216921" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217991" "00216922" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217992" "00216923" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217993" "00216924" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217994" "00216925" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217995" "00216926" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217996" "00216927" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217997" "00216928" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217998" "00216929" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000217999" "00216930" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218000" "00216931" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218001" "00216932" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218002" "00216933" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218003" "00216934" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218004" "00216935" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218005" "00216936" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218006" "00216937" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218007" "00216938" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218008" "00216939" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218009" "00216940" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC" "DNA" "" "" "0000218010" "00216941" "1" "00006" "00006" "2012-04-27 16:57:11" "" "" "DHPLC" "DNA" "" "" "0000218011" "00216942" "1" "00006" "00006" "2012-04-27 16:57:11" "" "" "DHPLC" "DNA" "" "" "0000218012" "00216943" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218013" "00216944" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218014" "00216945" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218015" "00216946" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218016" "00216947" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218017" "00216948" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218018" "00216949" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218019" "00216950" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218020" "00216951" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218021" "00216952" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218022" "00216953" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218023" "00216954" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218024" "00216955" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218025" "00216956" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218026" "00216957" "1" "00006" "00006" "2013-04-14 22:28:23" "" "" "SEQ" "DNA" "" "" "0000218027" "00216958" "1" "00006" "00006" "2012-04-27 16:57:10" "" "" "DHPLC;SEQ" "DNA" "" "" "0000218028" "00216959" "1" "00006" "00006" "2012-04-06 19:06:29" "" "" "SEQ" "DNA" "" "" "0000291254" "00290086" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291255" "00290087" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291257" "00290089" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291259" "00290091" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296284" "00295116" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297827" "00296717" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305383" "00304254" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000419657" "00418362" "1" "00006" "00006" "2022-09-28 20:32:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448325" "00446750" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448326" "00446751" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448364" "00446789" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448387" "00446812" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448405" "00446830" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448418" "00446843" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448455" "00446880" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454750" "00453139" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 113 "{{screeningid}}" "{{geneid}}" "0000016264" "ACTN2" "0000016264" "DSC2" "0000016264" "LDB3" "0000016264" "MYH7" "0000016264" "MYPN" "0000016264" "RYR2" "0000016264" "TTN" "0000058432" "MYPN" "0000058432" "PKP2" "0000058432" "TTN" "0000213625" "MYH7" "0000213626" "MYH7" "0000213627" "MYH7" "0000217931" "MYPN" "0000217932" "MYPN" "0000217933" "MYPN" "0000217934" "MYPN" "0000217935" "MYPN" "0000217936" "MYPN" "0000217937" "MYPN" "0000217938" "MYPN" "0000217939" "MYPN" "0000217940" "MYPN" "0000217941" "MYPN" "0000217942" "MYPN" "0000217943" "MYPN" "0000217944" "MYPN" "0000217945" "MYPN" "0000217946" "MYPN" "0000217947" "MYPN" "0000217948" "MYPN" "0000217949" "MYPN" "0000217950" "MYPN" "0000217951" "MYPN" "0000217952" "MYPN" "0000217953" "MYPN" "0000217954" "MYPN" "0000217955" "MYPN" "0000217956" "MYPN" "0000217957" "MYPN" "0000217958" "MYPN" "0000217959" "MYPN" "0000217960" "MYPN" "0000217961" "MYPN" "0000217962" "MYPN" "0000217963" "MYPN" "0000217964" "MYPN" "0000217965" "MYPN" "0000217966" "MYPN" "0000217967" "MYPN" "0000217968" "MYPN" "0000217969" "MYPN" "0000217970" "MYPN" "0000217971" "MYPN" "0000217972" "MYPN" "0000217973" "MYPN" "0000217974" "MYPN" "0000217975" "MYPN" "0000217976" "MYPN" "0000217977" "MYPN" "0000217978" "MYPN" "0000217979" "MYPN" "0000217980" "MYPN" "0000217981" "MYPN" "0000217982" "MYPN" "0000217983" "MYPN" "0000217984" "MYPN" "0000217985" "MYPN" "0000217986" "MYPN" "0000217987" "MYPN" "0000217988" "MYPN" "0000217989" "MYPN" "0000217990" "MYPN" "0000217991" "MYPN" "0000217992" "MYPN" "0000217993" "MYPN" "0000217994" "MYPN" "0000217995" "MYPN" "0000217996" "MYPN" "0000217997" "MYPN" "0000217998" "MYPN" "0000217999" "MYPN" "0000218000" "MYPN" "0000218001" "MYPN" "0000218002" "MYPN" "0000218003" "MYPN" "0000218004" "MYPN" "0000218005" "MYPN" "0000218006" "MYPN" "0000218007" "MYPN" "0000218008" "MYPN" "0000218009" "MYPN" "0000218010" "MYPN" "0000218011" "MYPN" "0000218012" "MYPN" "0000218013" "MYPN" "0000218014" "MYPN" "0000218015" "MYPN" "0000218016" "MYPN" "0000218017" "MYPN" "0000218018" "MYPN" "0000218019" "MYPN" "0000218020" "MYPN" "0000218021" "MYPN" "0000218022" "MYPN" "0000218023" "MYPN" "0000218024" "MYPN" "0000218025" "MYPN" "0000218026" "MYPN" "0000218027" "MYPN" "0000218028" "MYPN" "0000297827" "MYPN" "0000297827" "TTN" ## 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 = 673 "{{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}}" "0000012848" "3" "50" "10" "69886737" "69886737" "subst" "0" "00037" "MYPN_000073" "g.69886737A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68126980A>G" "" "VUS" "" "0000036029" "1" "55" "10" "69908113" "69908113" "subst" "0.00611074" "00668" "MYPN_000053" "g.69908113C>T" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.68148356C>T" "" "VUS" "" "0000071838" "0" "70" "10" "69881857" "69881857" "subst" "0.000142209" "01337" "MYPN_000061" "g.69881857A>T" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "" "Germline" "" "" "0" "" "" "g.68122100A>T" "" "likely pathogenic" "" "0000088994" "1" "50" "10" "69934170" "69934170" "subst" "7.72584E-5" "00006" "MYPN_000058" "g.69934170C>A" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "" "" "Unknown" "" "" "0" "" "" "g.68174413C>A" "" "VUS" "" "0000235439" "0" "50" "10" "69948723" "69948723" "subst" "0" "01807" "MYPN_000062" "g.69948723G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.68188966G>A" "" "VUS" "" "0000246874" "0" "10" "10" "69908244" "69908244" "subst" "0.00223265" "02330" "MYPN_000085" "g.69908244A>G" "" "" "" "MYPN(NM_001256268.2):c.363+20A>G, MYPN(NM_032578.3):c.1245+20A>G, MYPN(NM_032578.4):c.1245+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148487A>G" "" "benign" "" "0000246876" "0" "10" "10" "69882038" "69882038" "subst" "0.00886226" "02330" "MYPN_000038" "g.69882038A>G" "" "" "" "MYPN(NM_032578.3):c.843A>G (p.P281=), MYPN(NM_032578.4):c.843A>G (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122281A>G" "" "benign" "" "0000246883" "0" "10" "10" "69926175" "69926175" "subst" "7.72019E-5" "02330" "MYPN_000099" "g.69926175A>G" "" "" "" "MYPN(NM_001256268.2):c.843A>G (p.K281=), MYPN(NM_032578.3):c.1725A>G (p.K575=), MYPN(NM_032578.4):c.1725A>G (p.K575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166418A>G" "" "benign" "" "0000246889" "0" "30" "10" "69934085" "69934085" "subst" "0.000556752" "02330" "MYPN_000117" "g.69934085A>G" "" "" "" "MYPN(NM_032578.3):c.2236A>G (p.T746A), MYPN(NM_032578.4):c.2236A>G (p.T746A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174328A>G" "" "likely benign" "" "0000246891" "0" "50" "10" "69881446" "69881446" "subst" "4.46795E-5" "02330" "MYPN_000179" "g.69881446A>G" "" "" "" "MYPN(NM_032578.3):c.251A>G (p.N84S), MYPN(NM_032578.4):c.251A>G (p.N84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121689A>G" "" "VUS" "" "0000246901" "0" "50" "10" "69948684" "69948684" "subst" "0" "02330" "MYPN_000132" "g.69948684A>C" "" "" "" "MYPN(NM_001256268.2):c.1844A>C (p.E615A), MYPN(NM_032578.4):c.2726A>C (p.E909A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68188927A>C" "" "VUS" "" "0000246928" "0" "10" "10" "69935236" "69935236" "subst" "2.44035E-5" "02330" "MYPN_000131" "g.69935236A>G" "" "" "" "MYPN(NM_032578.4):c.2703+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175479A>G" "" "benign" "" "0000246959" "0" "50" "10" "69881857" "69881857" "subst" "0.000142209" "02330" "MYPN_000061" "g.69881857A>T" "" "" "" "MYPN(NM_032578.3):c.662A>T (p.D221V), MYPN(NM_032578.4):c.662A>T (p.D221V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122100A>T" "" "VUS" "" "0000246972" "0" "50" "10" "69934310" "69934310" "subst" "2.03292E-5" "02330" "MYPN_000122" "g.69934310A>G" "" "" "" "MYPN(NM_032578.4):c.2461A>G (p.S821G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174553A>G" "" "VUS" "" "0000248050" "0" "30" "10" "69908244" "69908244" "subst" "0.00223265" "02325" "MYPN_000085" "g.69908244A>G" "" "" "" "MYPN(NM_001256268.2):c.363+20A>G, MYPN(NM_032578.3):c.1245+20A>G, MYPN(NM_032578.4):c.1245+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148487A>G" "" "likely benign" "" "0000248102" "0" "30" "10" "69926175" "69926175" "subst" "7.72019E-5" "02325" "MYPN_000099" "g.69926175A>G" "" "" "" "MYPN(NM_001256268.2):c.843A>G (p.K281=), MYPN(NM_032578.3):c.1725A>G (p.K575=), MYPN(NM_032578.4):c.1725A>G (p.K575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166418A>G" "" "likely benign" "" "0000248120" "0" "30" "10" "69926112" "69926112" "subst" "0.000300635" "02325" "MYPN_000014" "g.69926112A>C" "" "" "" "MYPN(NM_001256268.2):c.780A>C (p.A260=), MYPN(NM_032578.3):c.1662A>C (p.A554=), MYPN(NM_032578.4):c.1662A>C (p.A554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166355A>C" "" "likely benign" "" "0000249383" "0" "30" "10" "69959244" "69959244" "subst" "0" "02325" "MYPN_000154" "g.69959244A>T" "" "" "" "MYPN(NM_001256268.2):c.2523A>T (p.P841=), MYPN(NM_032578.4):c.3405A>T (p.P1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199487A>T" "" "likely benign" "" "0000249609" "0" "70" "10" "69881265" "69881265" "del" "0" "02325" "MYPN_000065" "g.69881265del" "" "" "" "MYPN(NM_032578.4):c.70delA (p.T24Pfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121508del" "" "likely pathogenic" "" "0000249643" "0" "70" "10" "69902775" "69902775" "dup" "0" "02325" "MYPN_000197" "g.69902775dup" "" "" "" "MYPN(NM_001256268.2):c.100delAinsCA (p.I34Hfs*6), MYPN(NM_001256268.2):c.99dupC (p.I34Hfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68143018dup" "" "likely pathogenic" "" "0000249704" "0" "50" "10" "69948684" "69948684" "subst" "0" "02325" "MYPN_000132" "g.69948684A>C" "" "" "" "MYPN(NM_001256268.2):c.1844A>C (p.E615A), MYPN(NM_032578.4):c.2726A>C (p.E909A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68188927A>C" "" "VUS" "" "0000251882" "0" "30" "10" "69934109" "69934109" "subst" "0.000223572" "02326" "MYPN_000202" "g.69934109A>C" "" "" "" "MYPN(NM_032578.3):c.2260A>C (p.I754L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174352A>C" "" "likely benign" "" "0000251968" "0" "30" "10" "69881480" "69881480" "subst" "0" "02326" "MYPN_000181" "g.69881480A>T" "" "" "" "MYPN(NM_032578.3):c.285A>T (p.Q95H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121723A>T" "" "likely benign" "" "0000252188" "0" "30" "10" "69948903" "69948903" "subst" "4.91836E-5" "02326" "MYPN_000138" "g.69948903A>C" "" "" "" "MYPN(NM_032578.3):c.2925+20A>C, MYPN(NM_032578.4):c.2925+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189146A>C" "" "likely benign" "" "0000252189" "0" "30" "10" "69961759" "69961759" "subst" "0" "02326" "MYPN_000166" "g.69961759A>G" "" "" "" "MYPN(NM_001256268.1):c.2777+8A>G, MYPN(NM_032578.3):c.3659+8A>G, MYPN(NM_032578.4):c.3659+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68202002A>G" "" "likely benign" "" "0000253311" "0" "10" "10" "69908244" "69908244" "subst" "0.00223265" "01943" "MYPN_000085" "g.69908244A>G" "" "" "" "MYPN(NM_001256268.2):c.363+20A>G, MYPN(NM_032578.3):c.1245+20A>G, MYPN(NM_032578.4):c.1245+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148487A>G" "" "benign" "" "0000253357" "0" "10" "10" "69882038" "69882038" "subst" "0.00886226" "01943" "MYPN_000038" "g.69882038A>G" "" "" "" "MYPN(NM_032578.3):c.843A>G (p.P281=), MYPN(NM_032578.4):c.843A>G (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122281A>G" "" "benign" "" "0000253839" "0" "10" "10" "69935059" "69935059" "subst" "0.65867" "01943" "MYPN_000055" "g.69935059A>G" "" "" "" "MYPN(NM_032578.3):c.2565-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175302A>G" "" "benign" "" "0000254092" "0" "30" "10" "69926175" "69926175" "subst" "7.72019E-5" "01943" "MYPN_000099" "g.69926175A>G" "" "" "" "MYPN(NM_001256268.2):c.843A>G (p.K281=), MYPN(NM_032578.3):c.1725A>G (p.K575=), MYPN(NM_032578.4):c.1725A>G (p.K575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166418A>G" "" "likely benign" "" "0000254110" "0" "30" "10" "69926112" "69926112" "subst" "0.000300635" "01943" "MYPN_000014" "g.69926112A>C" "" "" "" "MYPN(NM_001256268.2):c.780A>C (p.A260=), MYPN(NM_032578.3):c.1662A>C (p.A554=), MYPN(NM_032578.4):c.1662A>C (p.A554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166355A>C" "" "likely benign" "" "0000254183" "0" "30" "10" "69934085" "69934085" "subst" "0.000556752" "01943" "MYPN_000117" "g.69934085A>G" "" "" "" "MYPN(NM_032578.3):c.2236A>G (p.T746A), MYPN(NM_032578.4):c.2236A>G (p.T746A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174328A>G" "" "likely benign" "" "0000255101" "0" "30" "10" "69926308" "69926308" "subst" "2.4371E-5" "01943" "MYPN_000201" "g.69926308A>G" "" "" "" "MYPN(NM_032578.3):c.1858A>G (p.T620A), MYPN(NM_032578.4):c.1858A>G (p.T620A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166551A>G" "" "likely benign" "" "0000255106" "0" "30" "10" "69933830" "69933830" "subst" "1.2194E-5" "01943" "MYPN_000108" "g.69933830A>T" "" "" "" "MYPN(NM_032578.3):c.1981A>T (p.T661S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174073A>T" "" "likely benign" "" "0000255267" "0" "30" "10" "69902679" "69902679" "subst" "3.25166E-5" "01943" "MYPN_000074" "g.69902679A>T" "" "" "" "MYPN(NM_032578.3):c.903-18A>T, MYPN(NM_032578.4):c.903-18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68142922A>T" "" "likely benign" "" "0000255827" "0" "50" "10" "69881446" "69881446" "subst" "4.46795E-5" "01943" "MYPN_000179" "g.69881446A>G" "" "" "" "MYPN(NM_032578.3):c.251A>G (p.N84S), MYPN(NM_032578.4):c.251A>G (p.N84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121689A>G" "" "VUS" "" "0000256471" "0" "50" "10" "69881529" "69881529" "subst" "0" "01943" "MYPN_000183" "g.69881529A>G" "" "" "" "MYPN(NM_032578.3):c.334A>G (p.S112G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121772A>G" "" "VUS" "" "0000292895" "0" "10" "10" "69926334" "69926334" "subst" "0.441802" "02330" "MYPN_000016" "g.69926334C>G" "" "" "" "MYPN(NM_001256268.2):c.1002C>G (p.F334L), MYPN(NM_032578.4):c.1884C>G (p.F628L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166577C>G" "" "benign" "" "0000292896" "0" "10" "10" "69926343" "69926343" "subst" "0.000430632" "02330" "MYPN_000104" "g.69926343G>A" "" "" "" "MYPN(NM_001256268.1):c.1011G>A (p.R337=), MYPN(NM_001256268.2):c.1011G>A (p.R337=), MYPN(NM_032578.4):c.1893G>A (p.R631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166586G>A" "" "benign" "" "0000292897" "0" "50" "10" "69902806" "69902806" "subst" "4.88087E-5" "02330" "MYPN_000198" "g.69902806C>T" "" "" "" "MYPN(NM_032578.4):c.1012C>T (p.R338C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68143049C>T" "" "VUS" "" "0000292898" "0" "10" "10" "69926385" "69926385" "subst" "0.000590261" "02330" "MYPN_000017" "g.69926385C>T" "" "" "" "MYPN(NM_001256268.2):c.1053C>T (p.P351=), MYPN(NM_032578.3):c.1935C>T (p.P645=), MYPN(NM_032578.4):c.1935C>T (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166628C>T" "" "benign" "" "0000292899" "0" "10" "10" "69905214" "69905214" "subst" "0.000675709" "02330" "MYPN_000075" "g.69905214T>C" "" "" "" "MYPN(NM_032578.3):c.1079-18T>C, MYPN(NM_032578.4):c.1079-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145457T>C" "" "benign" "" "0000292900" "0" "50" "10" "69905234" "69905234" "subst" "1.62718E-5" "02330" "MYPN_000076" "g.69905234G>T" "" "" "" "MYPN(NM_032578.4):c.1081G>T (p.V361F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145477G>T" "" "VUS" "" "0000292901" "0" "10" "10" "69905275" "69905275" "subst" "0.000211509" "02330" "MYPN_000078" "g.69905275G>A" "" "" "" "MYPN(NM_032578.3):c.1122G>A (p.E374=), MYPN(NM_032578.4):c.1122G>A (p.E374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145518G>A" "" "benign" "" "0000292902" "0" "10" "10" "69933921" "69933921" "subst" "0.432927" "02330" "MYPN_000009" "g.69933921G>A" "" "" "" "MYPN(NM_001256268.2):c.1190G>A (p.S397N), MYPN(NM_032578.4):c.2072G>A (p.S691N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174164G>A" "" "benign" "" "0000292903" "0" "10" "10" "69933969" "69933969" "subst" "0.428263" "02330" "MYPN_000010" "g.69933969G>A" "" "" "" "MYPN(NM_001256268.2):c.1238G>A (p.S413N), MYPN(NM_032578.4):c.2120G>A (p.S707N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174212G>A" "" "benign" "" "0000292904" "0" "10" "10" "69934012" "69934012" "subst" "0.0214852" "02330" "MYPN_000018" "g.69934012C>A" "" "" "" "MYPN(NM_001256268.2):c.1281C>A (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174255C>A" "" "benign" "" "0000292905" "0" "10" "10" "69909883" "69909889" "del" "0" "02330" "MYPN_000089" "g.69909883_69909889del" "" "" "" "MYPN(NM_032578.4):c.1317+15_1317+21delACTTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150126_68150132del" "" "benign" "" "0000292906" "0" "50" "10" "69881335" "69881335" "subst" "6.09647E-5" "02330" "MYPN_000070" "g.69881335C>T" "" "" "" "MYPN(NM_001256267.1):c.140C>T (p.(Pro47Leu)), MYPN(NM_032578.4):c.140C>T (p.P47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121578C>T" "" "VUS" "" "0000292907" "0" "50" "10" "69921492" "69921492" "subst" "0.000101816" "02330" "MYPN_000093" "g.69921492G>A" "" "" "" "MYPN(NM_032578.4):c.1466G>A (p.R489Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68161735G>A" "" "VUS" "" "0000292908" "0" "10" "10" "69934258" "69934258" "subst" "0.520294" "02330" "MYPN_000020" "g.69934258C>G" "" "" "" "MYPN(NM_001256268.2):c.1527C>G (p.S509R), MYPN(NM_032578.4):c.2409C>G (p.S803R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174501C>G" "" "benign" "" "0000292909" "0" "10" "10" "69925568" "69925568" "subst" "1.63854E-5" "02330" "MYPN_000096" "g.69925568C>T" "" "" "" "MYPN(NM_032578.3):c.1593C>T (p.H531=), MYPN(NM_032578.4):c.1593C>T (p.H531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68165811C>T" "" "benign" "" "0000292910" "0" "10" "10" "69935235" "69935235" "subst" "0.994873" "02330" "MYPN_000130" "g.69935235T>C" "" "" "" "MYPN(NM_001256268.2):c.1821+17T>C, MYPN(NM_032578.3):c.2703+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175478T>C" "" "benign" "" "0000292911" "0" "10" "10" "69926349" "69926349" "subst" "2.03146E-5" "02330" "MYPN_000105" "g.69926349C>T" "" "" "" "MYPN(NM_032578.3):c.1899C>T (p.N633=), MYPN(NM_032578.4):c.1899C>T (p.N633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166592C>T" "" "benign" "" "0000292912" "0" "10" "10" "69926394" "69926394" "subst" "0.000256929" "02330" "MYPN_000107" "g.69926394G>A" "" "" "" "MYPN(NM_032578.3):c.1944G>A (p.E648=), MYPN(NM_032578.4):c.1944G>A (p.E648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166637G>A" "" "benign" "" "0000292913" "0" "50" "10" "69948822" "69948822" "subst" "6.1068E-5" "02330" "MYPN_000043" "g.69948822G>A" "" "" "" "MYPN(NM_001256268.1):c.1982G>A (p.R661Q), MYPN(NM_001256268.2):c.1982G>A (p.R661Q), MYPN(NM_032578.3):c.2864G>A (p.(Arg955Gln), p.R955Q), MYPN(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189065G>A" "" "VUS" "" "0000292914" "0" "10" "10" "69948838" "69948838" "subst" "0.000268798" "02330" "MYPN_000134" "g.69948838T>G" "" "" "" "MYPN(NM_001256268.2):c.1998T>G (p.S666=), MYPN(NM_032578.3):c.2880T>G (p.S960=), MYPN(NM_032578.4):c.2880T>G (p.S960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189081T>G" "" "benign" "" "0000292915" "0" "10" "10" "69948844" "69948844" "subst" "0.996318" "02330" "MYPN_000011" "g.69948844T>C" "" "" "" "MYPN(NM_001256268.2):c.2004T>C (p.V668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189087T>C" "" "benign" "" "0000292916" "0" "10" "10" "69948892" "69948892" "subst" "0.00505459" "02330" "MYPN_000136" "g.69948892G>C" "" "" "" "MYPN(NM_001256268.2):c.2043+9G>C, MYPN(NM_032578.3):c.2925+9G>C, MYPN(NM_032578.4):c.2925+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189135G>C" "" "benign" "" "0000292917" "0" "50" "10" "69933986" "69933986" "subst" "0" "02330" "MYPN_000111" "g.69933986C>A" "" "" "" "MYPN(NM_032578.4):c.2137C>A (p.P713T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174229C>A" "" "VUS" "" "0000292918" "0" "10" "10" "69954289" "69954289" "subst" "0" "02330" "MYPN_000143" "g.69954289C>T" "" "" "" "MYPN(NM_001256268.2):c.2193+20C>T, MYPN(NM_032578.3):c.3075+20C>T, MYPN(NM_032578.4):c.3075+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194532C>T" "" "benign" "" "0000292919" "0" "50" "10" "69934077" "69934077" "subst" "1.21919E-5" "02330" "MYPN_000114" "g.69934077C>A" "" "" "" "MYPN(NM_032578.3):c.2228C>A (p.P743Q), MYPN(NM_032578.4):c.2228C>A (p.P743Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174320C>A" "" "VUS" "" "0000292920" "0" "30" "10" "69934077" "69934077" "subst" "0.000158494" "02330" "MYPN_000115" "g.69934077C>T" "" "" "" "MYPN(NM_032578.4):c.2228C>T (p.P743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174320C>T" "" "likely benign" "" "0000292921" "0" "10" "10" "69934078" "69934078" "subst" "4.47074E-5" "02330" "MYPN_000116" "g.69934078G>A" "" "" "" "MYPN(NM_001256268.1):c.1347G>A (p.P449=), MYPN(NM_032578.4):c.2229G>A (p.P743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174321G>A" "" "benign" "" "0000292922" "0" "10" "10" "69905257" "69905257" "subst" "0.00154979" "02330" "MYPN_000048" "g.69905257C>T" "" "" "" "MYPN(NM_001256268.2):c.222C>T (p.G74=), MYPN(NM_032578.3):c.1104C>T (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145500C>T" "" "benign" "" "0000292923" "0" "30" "10" "69955255" "69955255" "subst" "0.000414314" "02330" "MYPN_000146" "g.69955255C>T" "" "" "" "MYPN(NM_001256268.2):c.2242C>T (p.R748C), MYPN(NM_032578.3):c.3124C>T (p.R1042C), MYPN(NM_032578.4):c.3124C>T (p.R1042C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68195498C>T" "" "likely benign" "" "0000292924" "0" "10" "10" "69934259" "69934259" "subst" "0.018361" "02330" "MYPN_000021" "g.69934259G>A" "" "" "" "MYPN(NM_032578.3):c.2410G>A (p.G804R), MYPN(NM_032578.4):c.2410G>A (p.G804R, p.(Gly804Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174502G>A" "" "benign" "" "0000292925" "0" "50" "10" "69934277" "69934277" "subst" "2.03254E-5" "02330" "MYPN_000120" "g.69934277C>T" "" "" "" "MYPN(NM_032578.3):c.2428C>T (p.R810C), MYPN(NM_032578.4):c.2428C>T (p.R810C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174520C>T" "" "VUS" "" "0000292926" "0" "10" "10" "69934296" "69934296" "subst" "0.00267886" "02330" "MYPN_000121" "g.69934296C>T" "" "" "" "MYPN(NM_032578.3):c.2447C>T (p.P816L), MYPN(NM_032578.4):c.2447C>T (p.P816L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174539C>T" "" "benign" "" "0000292927" "0" "10" "10" "69905300" "69905300" "subst" "0.149945" "02330" "MYPN_000052" "g.69905300G>A" "" "" "" "MYPN(NM_001256268.2):c.248+17G>A, MYPN(NM_032578.3):c.1130+17G>A, MYPN(NM_032578.4):c.1130+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145543G>A" "" "benign" "" "0000292928" "0" "10" "10" "69959242" "69959242" "subst" "0.433702" "02330" "MYPN_000012" "g.69959242C>A" "" "" "" "MYPN(NM_001256268.1):c.2521C>A (p.P841T), MYPN(NM_001256268.2):c.2521C>A (p.P841T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199485C>A" "" "benign" "" "0000292929" "0" "10" "10" "69959259" "69959259" "subst" "1.21843E-5" "02330" "MYPN_000156" "g.69959259C>T" "" "" "" "MYPN(NM_001256268.2):c.2538C>T (p.D846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199502C>T" "" "benign" "" "0000292930" "0" "50" "10" "69934414" "69934414" "subst" "0" "02330" "MYPN_000124" "g.69934414G>C" "" "" "" "MYPN(NM_032578.4):c.2564+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174657G>C" "" "VUS" "" "0000292931" "0" "10" "10" "69959347" "69959352" "del" "0" "02330" "MYPN_000162" "g.69959347_69959352del" "" "" "" "MYPN(NM_001256268.1):c.2611+15_2611+20delTGGGAC, MYPN(NM_001256268.2):c.2611+15_2611+20delTGGGAC, MYPN(NM_032578.4):c.3493+15_3493+20delTGGGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199590_68199595del" "" "benign" "" "0000292932" "0" "10" "10" "69935231" "69935231" "subst" "0.000109716" "02330" "MYPN_000129" "g.69935231G>A" "" "" "" "MYPN(NM_032578.3):c.2703+13G>A, MYPN(NM_032578.4):c.2703+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175474G>A" "" "benign" "" "0000292933" "0" "10" "10" "69966602" "69966602" "subst" "0" "02330" "MYPN_000170" "g.69966602G>T" "" "" "" "MYPN(NM_001256268.2):c.2853G>T (p.T951=), MYPN(NM_032578.4):c.3735G>T (p.T1245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206845G>T" "" "benign" "" "0000292934" "0" "10" "10" "69966659" "69966659" "subst" "0.00028894" "02330" "MYPN_000173" "g.69966659C>T" "" "" "" "MYPN(NM_001256267.1):c.3792C>T (p.(Tyr1264=)), MYPN(NM_001256268.2):c.2910C>T (p.Y970=), MYPN(NM_032578.3):c.3792C>T (p.Y1264=), MYPN(NM_032578.4):..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206902C>T" "" "benign" "" "0000292935" "0" "50" "10" "69948901" "69948901" "subst" "0.000122945" "02330" "MYPN_000137" "g.69948901C>T" "" "" "" "MYPN(NM_032578.4):c.2925+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189144C>T" "" "VUS" "" "0000292936" "0" "10" "10" "69908157" "69908157" "subst" "0.0383388" "02330" "MYPN_000005" "g.69908157T>C" "" "" "" "MYPN(NM_001256268.2):c.296T>C (p.V99A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148400T>C" "" "benign" "" "0000292937" "0" "10" "10" "69954274" "69954282" "del" "0" "02330" "MYPN_000140" "g.69954274_69954282del" "" "" "" "MYPN(NM_001256268.2):c.2193+5_2193+13delAGACGCAGG, MYPN(NM_032578.4):c.3075+5_3075+13delAGACGCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194517_68194525del" "" "benign" "" "0000292938" "0" "10" "10" "69954278" "69954278" "subst" "0" "02330" "MYPN_000142" "g.69954278G>A" "" "" "" "MYPN(NM_032578.4):c.3075+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194521G>A" "" "benign" "" "0000292939" "0" "10" "10" "69955209" "69955209" "subst" "0.000881533" "02330" "MYPN_000145" "g.69955209G>A" "" "" "" "MYPN(NM_032578.3):c.3078G>A (p.G1026=), MYPN(NM_032578.4):c.3078G>A (p.G1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68195452G>A" "" "benign" "" "0000292940" "0" "50" "10" "69957120" "69957120" "subst" "4.06319E-6" "02330" "MYPN_000148" "g.69957120G>C" "" "" "" "MYPN(NM_032578.4):c.3170G>C (p.R1057P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68197363G>C" "" "VUS" "" "0000292941" "0" "10" "10" "69957229" "69957229" "subst" "0.00286805" "02330" "MYPN_000149" "g.69957229C>T" "" "" "" "MYPN(NM_032578.3):c.3279C>T (p.D1093=), MYPN(NM_032578.4):c.3279C>T (p.D1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68197472C>T" "" "benign" "" "0000292942" "0" "10" "10" "69957253" "69957253" "subst" "4.06365E-6" "02330" "MYPN_000150" "g.69957253T>C" "" "" "" "MYPN(NM_032578.4):c.3285+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68197496T>C" "" "benign" "" "0000292943" "0" "10" "10" "69959260" "69959260" "subst" "0.000881347" "02330" "MYPN_000157" "g.69959260G>A" "" "" "" "MYPN(NM_032578.3):c.3421G>A (p.A1141T), MYPN(NM_032578.4):c.3421G>A (p.A1141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199503G>A" "" "benign" "" "0000292944" "0" "50" "10" "69881537" "69881537" "subst" "1.21878E-5" "02330" "MYPN_000184" "g.69881537G>C" "" "" "" "MYPN(NM_032578.4):c.342G>C (p.E114D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121780G>C" "" "VUS" "" "0000292945" "0" "10" "10" "69959343" "69959343" "subst" "0.00143834" "02330" "MYPN_000161" "g.69959343C>T" "" "" "" "MYPN(NM_032578.3):c.3493+11C>T, MYPN(NM_032578.4):c.3493+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199586C>T" "" "benign" "" "0000292946" "0" "10" "10" "69959338" "69959338" "subst" "5.07516E-6" "02330" "MYPN_000159" "g.69959338G>A" "" "" "" "MYPN(NM_032578.3):c.3493+6G>A, MYPN(NM_032578.4):c.3493+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199581G>A" "" "benign" "" "0000292947" "0" "10" "10" "69908215" "69908215" "subst" "0.000597338" "02330" "MYPN_000083" "g.69908215C>A" "" "" "" "MYPN(NM_001256268.2):c.354C>A (p.T118=), MYPN(NM_032578.3):c.1236C>A (p.T412=), MYPN(NM_032578.4):c.1236C>A (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148458C>A" "" "benign" "" "0000292948" "0" "10" "10" "69961656" "69961656" "subst" "2.84766E-5" "02330" "MYPN_000164" "g.69961656C>T" "" "" "" "MYPN(NM_001256268.1):c.2682C>T (p.P894=), MYPN(NM_032578.4):c.3564C>T (p.P1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68201899C>T" "" "benign" "" "0000292949" "0" "50" "10" "69961685" "69961685" "subst" "3.25415E-5" "02330" "MYPN_000165" "g.69961685T>C" "" "" "" "MYPN(NM_032578.4):c.3593T>C (p.M1198T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68201928T>C" "" "VUS" "" "0000292950" "0" "10" "10" "69908241" "69908241" "subst" "0.0968049" "02330" "MYPN_000084" "g.69908241G>A" "" "" "" "MYPN(NM_001256268.2):c.363+17G>A, MYPN(NM_032578.3):c.1245+17G>A, MYPN(NM_032578.4):c.1245+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148484G>A" "" "benign" "" "0000292951" "0" "10" "10" "69909778" "69909778" "subst" "0.000479706" "02330" "MYPN_000086" "g.69909778G>A" "" "" "" "MYPN(NM_001256268.2):c.364-19G>A, MYPN(NM_032578.3):c.1246-19G>A, MYPN(NM_032578.4):c.1246-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150021G>A" "" "benign" "" "0000292952" "0" "10" "10" "69909802" "69909802" "subst" "0.0808343" "02330" "MYPN_000006" "g.69909802G>A" "" "" "" "MYPN(NM_001256268.2):c.369G>A (p.Q123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150045G>A" "" "benign" "" "0000292953" "0" "10" "10" "69966635" "69966635" "subst" "0.000439174" "02330" "MYPN_000172" "g.69966635G>A" "" "" "" "MYPN(NM_032578.4):c.3768G>A (p.S1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206878G>A" "" "benign" "" "0000292954" "0" "50" "10" "69970067" "69970067" "subst" "6.90596E-5" "02330" "MYPN_000174" "g.69970067C>T" "" "" "" "MYPN(NM_032578.4):c.3818C>T (p.P1273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68210310C>T" "" "VUS" "" "0000292955" "0" "10" "10" "69970183" "69970183" "subst" "0.000239656" "02330" "MYPN_000176" "g.69970183C>T" "" "" "" "MYPN(NM_001256268.1):c.3052C>T (p.R1018W), MYPN(NM_032578.3):c.3934C>T (p.R1312W), MYPN(NM_032578.4):c.3934C>T (p.R1312W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68210426C>T" "" "benign" "" "0000292956" "0" "50" "10" "69970193" "69970193" "subst" "1.62477E-5" "02330" "MYPN_000177" "g.69970193T>C" "" "" "" "MYPN(NM_032578.4):c.3944T>C (p.V1315A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68210436T>C" "" "VUS" "" "0000292957" "0" "10" "10" "69909844" "69909844" "subst" "0.000885884" "02330" "MYPN_000088" "g.69909844C>A" "" "" "" "MYPN(NM_001256268.2):c.411C>A (p.I137=), MYPN(NM_032578.3):c.1293C>A (p.I431=), MYPN(NM_032578.4):c.1293C>A (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150087C>A" "" "benign" "" "0000292958" "0" "10" "10" "69881615" "69881615" "subst" "8.12559E-5" "02330" "MYPN_000013" "g.69881615T>C" "" "" "" "MYPN(NM_032578.4):c.420T>C (p.Y140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121858T>C" "" "benign" "" "0000292959" "0" "10" "10" "69881237" "69881237" "subst" "2.4395E-5" "02330" "MYPN_000064" "g.69881237G>A" "" "" "" "MYPN(NM_032578.4):c.42G>A (p.Q14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121480G>A" "" "benign" "" "0000292961" "0" "50" "10" "69881654" "69881654" "subst" "0" "02330" "MYPN_000189" "g.69881654G>T" "" "" "" "MYPN(NM_032578.4):c.459G>T (p.K153N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121897G>T" "" "VUS" "" "0000292962" "0" "10" "10" "69918324" "69918324" "subst" "0.0107159" "02330" "MYPN_000039" "g.69918324G>A" "" "" "" "MYPN(NM_001256267.1):c.1399G>A (p.(Glu467Lys)), MYPN(NM_032578.3):c.1399G>A (p.E467K), MYPN(NM_032578.4):c.1399G>A (p.E467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68158567G>A" "" "benign" "" "0000292963" "0" "10" "10" "69921472" "69921472" "subst" "0.00114599" "02330" "MYPN_000092" "g.69921472T>A" "" "" "" "MYPN(NM_001256268.2):c.578-14T>A, MYPN(NM_032578.3):c.1460-14T>A, MYPN(NM_032578.4):c.1460-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68161715T>A" "" "benign" "" "0000292964" "0" "30" "10" "69881790" "69881793" "del" "0" "02330" "MYPN_000190" "g.69881790_69881793del" "" "" "" "MYPN(NM_032578.4):c.595_598delTTCT (p.F199Qfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122033_68122036del" "" "likely benign" "" "0000292965" "0" "10" "10" "69881855" "69881855" "subst" "0.000142226" "02330" "MYPN_000192" "g.69881855G>A" "" "" "" "MYPN(NM_032578.3):c.660G>A (p.R220=), MYPN(NM_032578.4):c.660G>A (p.R220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122098G>A" "" "benign" "" "0000292966" "0" "50" "10" "69881937" "69881937" "subst" "0" "02330" "MYPN_000194" "g.69881937G>A" "" "" "" "MYPN(NM_032578.4):c.742G>A (p.G248R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122180G>A" "" "VUS" "" "0000292967" "0" "10" "10" "69926097" "69926097" "subst" "0.632627" "02330" "MYPN_000007" "g.69926097T>C" "" "" "" "MYPN(NM_001256268.2):c.765T>C (p.S255=), MYPN(NM_032578.4):c.1647T>C (p.S549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166340T>C" "" "benign" "" "0000292968" "0" "10" "10" "69926319" "69926319" "subst" "0.165836" "02330" "MYPN_000015" "g.69926319C>A" "" "" "" "MYPN(NM_001256268.2):c.987C>A (p.T329=), MYPN(NM_032578.4):c.1869C>A (p.T623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166562C>A" "" "benign" "" "0000292969" "0" "10" "10" "69926325" "69926325" "subst" "0.188256" "02330" "MYPN_000008" "g.69926325C>T" "" "" "" "MYPN(NM_001256268.2):c.993C>T (p.P331=), MYPN(NM_032578.4):c.1875C>T (p.P625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166568C>T" "" "benign" "" "0000296261" "0" "30" "10" "69926343" "69926343" "subst" "0.000430632" "02325" "MYPN_000104" "g.69926343G>A" "" "" "" "MYPN(NM_001256268.1):c.1011G>A (p.R337=), MYPN(NM_001256268.2):c.1011G>A (p.R337=), MYPN(NM_032578.4):c.1893G>A (p.R631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166586G>A" "" "likely benign" "" "0000296262" "0" "30" "10" "69926385" "69926385" "subst" "0.000590261" "02325" "MYPN_000017" "g.69926385C>T" "" "" "" "MYPN(NM_001256268.2):c.1053C>T (p.P351=), MYPN(NM_032578.3):c.1935C>T (p.P645=), MYPN(NM_032578.4):c.1935C>T (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166628C>T" "" "likely benign" "" "0000296263" "0" "30" "10" "69881318" "69881318" "subst" "0" "02325" "MYPN_000069" "g.69881318T>C" "" "" "" "MYPN(NM_032578.4):c.123T>C (p.P41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121561T>C" "" "likely benign" "" "0000296264" "0" "10" "10" "69935235" "69935235" "subst" "0.994873" "02325" "MYPN_000130" "g.69935235T>C" "" "" "" "MYPN(NM_001256268.2):c.1821+17T>C, MYPN(NM_032578.3):c.2703+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175478T>C" "" "benign" "" "0000296265" "0" "50" "10" "69902869" "69902869" "subst" "0" "02325" "MYPN_000199" "g.69902869G>A" "" "" "" "MYPN(NM_001256268.2):c.193G>A (p.E65K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68143112G>A" "" "VUS" "" "0000296266" "0" "50" "10" "69948822" "69948822" "subst" "6.1068E-5" "02325" "MYPN_000043" "g.69948822G>A" "" "" "" "MYPN(NM_001256268.1):c.1982G>A (p.R661Q), MYPN(NM_001256268.2):c.1982G>A (p.R661Q), MYPN(NM_032578.3):c.2864G>A (p.(Arg955Gln), p.R955Q), MYPN(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189065G>A" "" "VUS" "" "0000296267" "0" "30" "10" "69948838" "69948838" "subst" "0.000268798" "02325" "MYPN_000134" "g.69948838T>G" "" "" "" "MYPN(NM_001256268.2):c.1998T>G (p.S666=), MYPN(NM_032578.3):c.2880T>G (p.S960=), MYPN(NM_032578.4):c.2880T>G (p.S960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189081T>G" "" "likely benign" "" "0000296268" "0" "10" "10" "69948844" "69948844" "subst" "0.996318" "02325" "MYPN_000011" "g.69948844T>C" "" "" "" "MYPN(NM_001256268.2):c.2004T>C (p.V668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189087T>C" "" "benign" "" "0000296269" "0" "30" "10" "69948892" "69948892" "subst" "0.00505459" "02325" "MYPN_000136" "g.69948892G>C" "" "" "" "MYPN(NM_001256268.2):c.2043+9G>C, MYPN(NM_032578.3):c.2925+9G>C, MYPN(NM_032578.4):c.2925+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189135G>C" "" "likely benign" "" "0000296270" "0" "50" "10" "69881406" "69881408" "del" "0" "02325" "MYPN_000072" "g.69881406_69881408del" "" "" "" "MYPN(NM_032578.4):c.211_213delGAA (p.E71del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121649_68121651del" "" "VUS" "" "0000296271" "0" "30" "10" "69954289" "69954289" "subst" "0" "02325" "MYPN_000143" "g.69954289C>T" "" "" "" "MYPN(NM_001256268.2):c.2193+20C>T, MYPN(NM_032578.3):c.3075+20C>T, MYPN(NM_032578.4):c.3075+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194532C>T" "" "likely benign" "" "0000296272" "0" "30" "10" "69954274" "69954282" "del" "0" "02325" "MYPN_000141" "g.69954274_69954282del" "" "" "" "MYPN(NM_001256268.2):c.2193+5_2193+13delAGACGCAGG, MYPN(NM_032578.4):c.3075+5_3075+13delAGACGCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194517_68194525del" "" "likely benign" "" "0000296273" "0" "30" "10" "69905257" "69905257" "subst" "0.00154979" "02325" "MYPN_000048" "g.69905257C>T" "" "" "" "MYPN(NM_001256268.2):c.222C>T (p.G74=), MYPN(NM_032578.3):c.1104C>T (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145500C>T" "" "likely benign" "" "0000296274" "0" "50" "10" "69955255" "69955255" "subst" "0.000414314" "02325" "MYPN_000146" "g.69955255C>T" "" "" "" "MYPN(NM_001256268.2):c.2242C>T (p.R748C), MYPN(NM_032578.3):c.3124C>T (p.R1042C), MYPN(NM_032578.4):c.3124C>T (p.R1042C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68195498C>T" "" "VUS" "" "0000296275" "0" "30" "10" "69881454" "69881454" "subst" "4.0619E-5" "02325" "MYPN_000180" "g.69881454C>G" "" "" "" "MYPN(NM_032578.3):c.259C>G (p.P87A), MYPN(NM_032578.4):c.259C>G (p.P87A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121697C>G" "" "likely benign" "" "0000296276" "0" "10" "10" "69959347" "69959352" "del" "0" "02325" "MYPN_000163" "g.69959347_69959352del" "" "" "" "MYPN(NM_001256268.1):c.2611+15_2611+20delTGGGAC, MYPN(NM_001256268.2):c.2611+15_2611+20delTGGGAC, MYPN(NM_032578.4):c.3493+15_3493+20delTGGGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199590_68199595del" "" "benign" "" "0000296277" "0" "30" "10" "69961760" "69961760" "subst" "0" "02325" "MYPN_000167" "g.69961760G>T" "" "" "" "MYPN(NM_001256268.2):c.2777+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68202003G>T" "" "likely benign" "" "0000296278" "0" "30" "10" "69966578" "69966578" "subst" "8.12684E-6" "02325" "MYPN_000168" "g.69966578G>A" "" "" "" "MYPN(NM_001256268.2):c.2829G>A (p.K943=), MYPN(NM_032578.3):c.3711G>A (p.K1237=), MYPN(NM_032578.4):c.3711G>A (p.K1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206821G>A" "" "likely benign" "" "0000296279" "0" "50" "10" "69966588" "69966588" "subst" "4.06375E-6" "02325" "MYPN_000169" "g.69966588G>A" "" "" "" "MYPN(NM_001256268.2):c.2839G>A (p.A947T), MYPN(NM_032578.3):c.3721G>A (p.A1241T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206831G>A" "" "VUS" "" "0000296280" "0" "30" "10" "69966602" "69966602" "subst" "0" "02325" "MYPN_000170" "g.69966602G>T" "" "" "" "MYPN(NM_001256268.2):c.2853G>T (p.T951=), MYPN(NM_032578.4):c.3735G>T (p.T1245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206845G>T" "" "likely benign" "" "0000296281" "0" "50" "10" "69966630" "69966630" "subst" "4.47267E-5" "02325" "MYPN_000171" "g.69966630G>A" "" "" "" "MYPN(NM_001256268.2):c.2881G>A (p.V961M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206873G>A" "" "VUS" "" "0000296282" "0" "30" "10" "69966659" "69966659" "subst" "0.00028894" "02325" "MYPN_000173" "g.69966659C>T" "" "" "" "MYPN(NM_001256267.1):c.3792C>T (p.(Tyr1264=)), MYPN(NM_001256268.2):c.2910C>T (p.Y970=), MYPN(NM_032578.3):c.3792C>T (p.Y1264=), MYPN(NM_032578.4):..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206902C>T" "" "likely benign" "" "0000296283" "0" "30" "10" "69970068" "69970068" "subst" "8.12552E-6" "02325" "MYPN_000175" "g.69970068G>A" "" "" "" "MYPN(NM_001256268.2):c.2937G>A (p.P979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68210311G>A" "" "likely benign" "" "0000296284" "0" "30" "10" "69908203" "69908203" "subst" "0" "02325" "MYPN_000082" "g.69908203T>C" "" "" "" "MYPN(NM_001256268.2):c.342T>C (p.P114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148446T>C" "" "likely benign" "" "0000296285" "0" "30" "10" "69908215" "69908215" "subst" "0.000597338" "02325" "MYPN_000083" "g.69908215C>A" "" "" "" "MYPN(NM_001256268.2):c.354C>A (p.T118=), MYPN(NM_032578.3):c.1236C>A (p.T412=), MYPN(NM_032578.4):c.1236C>A (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148458C>A" "" "likely benign" "" "0000296286" "0" "30" "10" "69909778" "69909778" "subst" "0.000479706" "02325" "MYPN_000086" "g.69909778G>A" "" "" "" "MYPN(NM_001256268.2):c.364-19G>A, MYPN(NM_032578.3):c.1246-19G>A, MYPN(NM_032578.4):c.1246-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150021G>A" "" "likely benign" "" "0000296287" "0" "30" "10" "69881590" "69881590" "subst" "0.000162526" "02325" "MYPN_000185" "g.69881590C>T" "" "" "" "MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121833C>T" "" "likely benign" "" "0000296288" "0" "30" "10" "69909844" "69909844" "subst" "0.000885884" "02325" "MYPN_000088" "g.69909844C>A" "" "" "" "MYPN(NM_001256268.2):c.411C>A (p.I137=), MYPN(NM_032578.3):c.1293C>A (p.I431=), MYPN(NM_032578.4):c.1293C>A (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150087C>A" "" "likely benign" "" "0000296289" "0" "70" "10" "69881639" "69881639" "dup" "0" "02325" "MYPN_000188" "g.69881639dup" "" "" "" "MYPN(NM_001256267.1):c.444dupA (p.(Val149fs)), MYPN(NM_032578.4):c.444dupA (p.V149Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121882dup" "" "likely pathogenic" "" "0000296291" "0" "30" "10" "69921472" "69921472" "subst" "0.00114599" "02325" "MYPN_000092" "g.69921472T>A" "" "" "" "MYPN(NM_001256268.2):c.578-14T>A, MYPN(NM_032578.3):c.1460-14T>A, MYPN(NM_032578.4):c.1460-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68161715T>A" "" "likely benign" "" "0000296292" "0" "30" "10" "69881275" "69881275" "subst" "1.62516E-5" "02325" "MYPN_000066" "g.69881275G>C" "" "" "" "MYPN(NM_032578.4):c.80G>C (p.R27P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121518G>C" "" "likely benign" "" "0000299885" "0" "50" "10" "69905283" "69905283" "subst" "0.000524911" "02326" "MYPN_000079" "g.69905283G>A" "" "" "" "MYPN(NM_001256268.1):c.248G>A (p.R83Q), MYPN(NM_001256268.2):c.248G>A (p.R83Q), MYPN(NM_032578.3):c.1130G>A (p.R377Q), MYPN(NM_032578.4):c.1130G>A ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145526G>A" "" "VUS" "" "0000299886" "0" "30" "10" "69925568" "69925568" "subst" "1.63854E-5" "02326" "MYPN_000096" "g.69925568C>T" "" "" "" "MYPN(NM_032578.3):c.1593C>T (p.H531=), MYPN(NM_032578.4):c.1593C>T (p.H531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68165811C>T" "" "likely benign" "" "0000299887" "0" "10" "10" "69925596" "69925596" "subst" "0.00680522" "02326" "MYPN_000097" "g.69925596G>C" "" "" "" "MYPN(NM_032578.3):c.1600+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68165839G>C" "" "benign" "" "0000299888" "0" "10" "10" "69881212" "69881212" "subst" "4.08077E-6" "02326" "MYPN_000063" "g.69881212T>C" "" "" "" "MYPN(NM_032578.3):c.17T>C (p.I6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121455T>C" "" "benign" "" "0000299889" "0" "10" "10" "69948892" "69948892" "subst" "0.00505459" "02326" "MYPN_000136" "g.69948892G>C" "" "" "" "MYPN(NM_001256268.2):c.2043+9G>C, MYPN(NM_032578.3):c.2925+9G>C, MYPN(NM_032578.4):c.2925+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189135G>C" "" "benign" "" "0000299890" "0" "30" "10" "69905257" "69905257" "subst" "0.00154979" "02326" "MYPN_000048" "g.69905257C>T" "" "" "" "MYPN(NM_001256268.2):c.222C>T (p.G74=), MYPN(NM_032578.3):c.1104C>T (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145500C>T" "" "likely benign" "" "0000299891" "0" "50" "10" "69955255" "69955255" "subst" "0.000414314" "02326" "MYPN_000146" "g.69955255C>T" "" "" "" "MYPN(NM_001256268.2):c.2242C>T (p.R748C), MYPN(NM_032578.3):c.3124C>T (p.R1042C), MYPN(NM_032578.4):c.3124C>T (p.R1042C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68195498C>T" "" "VUS" "" "0000299892" "0" "10" "10" "69934259" "69934259" "subst" "0.018361" "02326" "MYPN_000021" "g.69934259G>A" "" "" "" "MYPN(NM_032578.3):c.2410G>A (p.G804R), MYPN(NM_032578.4):c.2410G>A (p.G804R, p.(Gly804Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174502G>A" "" "benign" "" "0000299893" "0" "10" "10" "69934296" "69934296" "subst" "0.00267886" "02326" "MYPN_000121" "g.69934296C>T" "" "" "" "MYPN(NM_032578.3):c.2447C>T (p.P816L), MYPN(NM_032578.4):c.2447C>T (p.P816L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174539C>T" "" "benign" "" "0000299894" "0" "30" "10" "69959320" "69959320" "subst" "0.00375212" "02326" "MYPN_000031" "g.69959320C>A" "" "" "" "MYPN(NM_032578.3):c.3481C>A (p.L1161I), MYPN(NM_032578.4):c.3481C>A (p.L1161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199563C>A" "" "likely benign" "" "0000299895" "0" "50" "10" "69957104" "69957104" "subst" "3.65747E-5" "02326" "MYPN_000147" "g.69957104T>C" "" "" "" "MYPN(NM_032578.3):c.3159-5T>C, MYPN(NM_032578.4):c.3159-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68197347T>C" "" "VUS" "" "0000299896" "0" "30" "10" "69908215" "69908215" "subst" "0.000597338" "02326" "MYPN_000083" "g.69908215C>A" "" "" "" "MYPN(NM_001256268.2):c.354C>A (p.T118=), MYPN(NM_032578.3):c.1236C>A (p.T412=), MYPN(NM_032578.4):c.1236C>A (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148458C>A" "" "likely benign" "" "0000299897" "0" "10" "10" "69909778" "69909778" "subst" "0.000479706" "02326" "MYPN_000086" "g.69909778G>A" "" "" "" "MYPN(NM_001256268.2):c.364-19G>A, MYPN(NM_032578.3):c.1246-19G>A, MYPN(NM_032578.4):c.1246-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150021G>A" "" "benign" "" "0000299898" "0" "30" "10" "69881590" "69881590" "subst" "0.000162526" "02326" "MYPN_000185" "g.69881590C>T" "" "" "" "MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121833C>T" "" "likely benign" "" "0000299899" "0" "10" "10" "69918324" "69918324" "subst" "0.0107159" "02326" "MYPN_000039" "g.69918324G>A" "" "" "" "MYPN(NM_001256267.1):c.1399G>A (p.(Glu467Lys)), MYPN(NM_032578.3):c.1399G>A (p.E467K), MYPN(NM_032578.4):c.1399G>A (p.E467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68158567G>A" "" "benign" "" "0000299900" "0" "10" "10" "69921472" "69921472" "subst" "0.00114599" "02326" "MYPN_000092" "g.69921472T>A" "" "" "" "MYPN(NM_001256268.2):c.578-14T>A, MYPN(NM_032578.3):c.1460-14T>A, MYPN(NM_032578.4):c.1460-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68161715T>A" "" "benign" "" "0000299901" "0" "30" "10" "69881792" "69881792" "subst" "6.501E-5" "02326" "MYPN_000191" "g.69881792C>T" "" "" "" "MYPN(NM_032578.3):c.597C>T (p.F199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122035C>T" "" "likely benign" "" "0000299902" "0" "50" "10" "69881952" "69881952" "subst" "6.61781E-5" "02326" "MYPN_000195" "g.69881952G>C" "" "" "" "MYPN(NM_032578.3):c.757G>C (p.G253R), MYPN(NM_032578.4):c.757G>C (p.G253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122195G>C" "" "VUS" "" "0000302792" "0" "30" "10" "69926343" "69926343" "subst" "0.000430632" "01943" "MYPN_000104" "g.69926343G>A" "" "" "" "MYPN(NM_001256268.1):c.1011G>A (p.R337=), MYPN(NM_001256268.2):c.1011G>A (p.R337=), MYPN(NM_032578.4):c.1893G>A (p.R631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166586G>A" "" "likely benign" "" "0000302793" "0" "50" "10" "69881299" "69881299" "subst" "4.06441E-6" "01943" "MYPN_000068" "g.69881299C>T" "" "" "" "MYPN(NM_032578.3):c.104C>T (p.A35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121542C>T" "" "VUS" "" "0000302794" "0" "30" "10" "69926385" "69926385" "subst" "0.000590261" "01943" "MYPN_000017" "g.69926385C>T" "" "" "" "MYPN(NM_001256268.2):c.1053C>T (p.P351=), MYPN(NM_032578.3):c.1935C>T (p.P645=), MYPN(NM_032578.4):c.1935C>T (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166628C>T" "" "likely benign" "" "0000302795" "0" "10" "10" "69905214" "69905214" "subst" "0.000675709" "01943" "MYPN_000075" "g.69905214T>C" "" "" "" "MYPN(NM_032578.3):c.1079-18T>C, MYPN(NM_032578.4):c.1079-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145457T>C" "" "benign" "" "0000302796" "0" "30" "10" "69905283" "69905283" "subst" "0.000524911" "01943" "MYPN_000079" "g.69905283G>A" "" "" "" "MYPN(NM_001256268.1):c.248G>A (p.R83Q), MYPN(NM_001256268.2):c.248G>A (p.R83Q), MYPN(NM_032578.3):c.1130G>A (p.R377Q), MYPN(NM_032578.4):c.1130G>A ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145526G>A" "" "likely benign" "" "0000302797" "0" "10" "10" "69921456" "69921456" "subst" "0.000246075" "01943" "MYPN_000091" "g.69921456C>A" "" "" "" "MYPN(NM_032578.3):c.1460-30C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68161699C>A" "" "benign" "" "0000302798" "0" "30" "10" "69925538" "69925538" "subst" "0.00055886" "01943" "MYPN_000094" "g.69925538C>T" "" "" "" "MYPN(NM_032578.3):c.1563C>T (p.Y521=), MYPN(NM_032578.4):c.1563C>T (p.Y521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68165781C>T" "" "likely benign" "" "0000302799" "0" "10" "10" "69925596" "69925596" "subst" "0.00680522" "01943" "MYPN_000097" "g.69925596G>C" "" "" "" "MYPN(NM_032578.3):c.1600+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68165839G>C" "" "benign" "" "0000302800" "0" "30" "10" "69935087" "69935087" "subst" "0" "01943" "MYPN_000126" "g.69935087C>A" "" "" "" "MYPN(NM_001256268.1):c.1690C>A (p.Q564K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175330C>A" "" "likely benign" "" "0000302801" "0" "50" "10" "69935145" "69935145" "subst" "1.21927E-5" "01943" "MYPN_000128" "g.69935145G>T" "" "" "" "MYPN(NM_001256268.1):c.1748G>T (p.R583L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175388G>T" "" "VUS" "" "0000302802" "0" "10" "10" "69935235" "69935235" "subst" "0.994873" "01943" "MYPN_000130" "g.69935235T>C" "" "" "" "MYPN(NM_001256268.2):c.1821+17T>C, MYPN(NM_032578.3):c.2703+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175478T>C" "" "benign" "" "0000302803" "0" "30" "10" "69926349" "69926349" "subst" "2.03146E-5" "01943" "MYPN_000105" "g.69926349C>T" "" "" "" "MYPN(NM_032578.3):c.1899C>T (p.N633=), MYPN(NM_032578.4):c.1899C>T (p.N633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166592C>T" "" "likely benign" "" "0000302804" "0" "30" "10" "69926394" "69926394" "subst" "0.000256929" "01943" "MYPN_000107" "g.69926394G>A" "" "" "" "MYPN(NM_032578.3):c.1944G>A (p.E648=), MYPN(NM_032578.4):c.1944G>A (p.E648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166637G>A" "" "likely benign" "" "0000302805" "0" "30" "10" "69948838" "69948838" "subst" "0.000268798" "01943" "MYPN_000134" "g.69948838T>G" "" "" "" "MYPN(NM_001256268.2):c.1998T>G (p.S666=), MYPN(NM_032578.3):c.2880T>G (p.S960=), MYPN(NM_032578.4):c.2880T>G (p.S960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189081T>G" "" "likely benign" "" "0000302806" "0" "50" "10" "69881398" "69881398" "subst" "0" "01943" "MYPN_000071" "g.69881398G>C" "" "" "" "MYPN(NM_032578.3):c.203G>C (p.S68T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121641G>C" "" "VUS" "" "0000302807" "0" "10" "10" "69948892" "69948892" "subst" "0.00505459" "01943" "MYPN_000136" "g.69948892G>C" "" "" "" "MYPN(NM_001256268.2):c.2043+9G>C, MYPN(NM_032578.3):c.2925+9G>C, MYPN(NM_032578.4):c.2925+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189135G>C" "" "benign" "" "0000302808" "0" "50" "10" "69934014" "69934014" "subst" "0.000223383" "01943" "MYPN_000113" "g.69934014G>A" "" "" "" "MYPN(NM_032578.3):c.2165G>A (p.R722Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174257G>A" "" "VUS" "" "0000302809" "0" "10" "10" "69954289" "69954289" "subst" "0" "01943" "MYPN_000143" "g.69954289C>T" "" "" "" "MYPN(NM_001256268.2):c.2193+20C>T, MYPN(NM_032578.3):c.3075+20C>T, MYPN(NM_032578.4):c.3075+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194532C>T" "" "benign" "" "0000302810" "0" "50" "10" "69955255" "69955255" "subst" "0.000414314" "01943" "MYPN_000146" "g.69955255C>T" "" "" "" "MYPN(NM_001256268.2):c.2242C>T (p.R748C), MYPN(NM_032578.3):c.3124C>T (p.R1042C), MYPN(NM_032578.4):c.3124C>T (p.R1042C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68195498C>T" "" "VUS" "" "0000302811" "0" "10" "10" "69934259" "69934259" "subst" "0.018361" "01943" "MYPN_000021" "g.69934259G>A" "" "" "" "MYPN(NM_032578.3):c.2410G>A (p.G804R), MYPN(NM_032578.4):c.2410G>A (p.G804R, p.(Gly804Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174502G>A" "" "benign" "" "0000302812" "0" "50" "10" "69934277" "69934277" "subst" "2.03254E-5" "01943" "MYPN_000120" "g.69934277C>T" "" "" "" "MYPN(NM_032578.3):c.2428C>T (p.R810C), MYPN(NM_032578.4):c.2428C>T (p.R810C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174520C>T" "" "VUS" "" "0000302813" "0" "10" "10" "69934296" "69934296" "subst" "0.00267886" "01943" "MYPN_000121" "g.69934296C>T" "" "" "" "MYPN(NM_032578.3):c.2447C>T (p.P816L), MYPN(NM_032578.4):c.2447C>T (p.P816L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174539C>T" "" "benign" "" "0000302814" "0" "10" "10" "69905300" "69905300" "subst" "0.149945" "01943" "MYPN_000052" "g.69905300G>A" "" "" "" "MYPN(NM_001256268.2):c.248+17G>A, MYPN(NM_032578.3):c.1130+17G>A, MYPN(NM_032578.4):c.1130+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68145543G>A" "" "benign" "" "0000302815" "0" "10" "10" "69959242" "69959242" "subst" "0.433702" "01943" "MYPN_000012" "g.69959242C>A" "" "" "" "MYPN(NM_001256268.1):c.2521C>A (p.P841T), MYPN(NM_001256268.2):c.2521C>A (p.P841T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199485C>A" "" "benign" "" "0000302816" "0" "50" "10" "69934389" "69934389" "subst" "0.000114339" "01943" "MYPN_000123" "g.69934389G>T" "" "" "" "MYPN(NM_032578.3):c.2540G>T (p.G847V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68174632G>T" "" "VUS" "" "0000302817" "0" "10" "10" "69959320" "69959320" "subst" "0.00375212" "01943" "MYPN_000031" "g.69959320C>A" "" "" "" "MYPN(NM_032578.3):c.3481C>A (p.L1161I), MYPN(NM_032578.4):c.3481C>A (p.L1161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199563C>A" "" "benign" "" "0000302818" "0" "50" "10" "69935118" "69935118" "subst" "4.06385E-5" "01943" "MYPN_000127" "g.69935118C>T" "" "" "" "MYPN(NM_032578.3):c.2603C>T (p.P868L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175361C>T" "" "VUS" "" "0000302819" "0" "10" "10" "69959347" "69959352" "del" "0" "01943" "MYPN_000162" "g.69959347_69959352del" "" "" "" "MYPN(NM_001256268.1):c.2611+15_2611+20delTGGGAC, MYPN(NM_001256268.2):c.2611+15_2611+20delTGGGAC, MYPN(NM_032578.4):c.3493+15_3493+20delTGGGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199590_68199595del" "" "benign" "" "0000302820" "0" "30" "10" "69935231" "69935231" "subst" "0.000109716" "01943" "MYPN_000129" "g.69935231G>A" "" "" "" "MYPN(NM_032578.3):c.2703+13G>A, MYPN(NM_032578.4):c.2703+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68175474G>A" "" "likely benign" "" "0000302821" "0" "30" "10" "69954112" "69954112" "subst" "0" "01943" "MYPN_000139" "g.69954112C>T" "" "" "" "MYPN(NM_032578.3):c.2926-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194355C>T" "" "likely benign" "" "0000302822" "0" "10" "10" "69954290" "69954290" "subst" "0.436913" "01943" "MYPN_000144" "g.69954290G>A" "" "" "" "MYPN(NM_032578.3):c.3075+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194533G>A" "" "benign" "" "0000302823" "0" "30" "10" "69881507" "69881507" "subst" "2.4374E-5" "01943" "MYPN_000182" "g.69881507G>A" "" "" "" "MYPN(NM_032578.3):c.312G>A (p.Q104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121750G>A" "" "likely benign" "" "0000302824" "0" "10" "10" "69957229" "69957229" "subst" "0.00286805" "01943" "MYPN_000149" "g.69957229C>T" "" "" "" "MYPN(NM_032578.3):c.3279C>T (p.D1093=), MYPN(NM_032578.4):c.3279C>T (p.D1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68197472C>T" "" "benign" "" "0000302825" "0" "10" "10" "69959097" "69959097" "subst" "0.680386" "01943" "MYPN_000151" "g.69959097G>T" "" "" "" "MYPN(NM_032578.3):c.3286-28G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199340G>T" "" "benign" "" "0000302826" "0" "30" "10" "69959241" "69959241" "subst" "0" "01943" "MYPN_000152" "g.69959241C>T" "" "" "" "MYPN(NM_032578.3):c.3402C>T (p.D1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199484C>T" "" "likely benign" "" "0000302827" "0" "50" "10" "69959255" "69959255" "subst" "2.4369E-5" "01943" "MYPN_000155" "g.69959255G>A" "" "" "" "MYPN(NM_032578.3):c.3416G>A (p.R1139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199498G>A" "" "VUS" "" "0000302828" "0" "10" "10" "69959260" "69959260" "subst" "0.000881347" "01943" "MYPN_000157" "g.69959260G>A" "" "" "" "MYPN(NM_032578.3):c.3421G>A (p.A1141T), MYPN(NM_032578.4):c.3421G>A (p.A1141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199503G>A" "" "benign" "" "0000302829" "0" "10" "10" "69959343" "69959343" "subst" "0.00143834" "01943" "MYPN_000161" "g.69959343C>T" "" "" "" "MYPN(NM_032578.3):c.3493+11C>T, MYPN(NM_032578.4):c.3493+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199586C>T" "" "benign" "" "0000302830" "0" "30" "10" "69959338" "69959338" "subst" "1.52255E-5" "01943" "MYPN_000160" "g.69959338G>T" "" "" "" "MYPN(NM_032578.3):c.3493+6G>T, MYPN(NM_032578.4):c.3493+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68199581G>T" "" "likely benign" "" "0000302831" "0" "10" "10" "69908241" "69908241" "subst" "0.0968049" "01943" "MYPN_000084" "g.69908241G>A" "" "" "" "MYPN(NM_001256268.2):c.363+17G>A, MYPN(NM_032578.3):c.1245+17G>A, MYPN(NM_032578.4):c.1245+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68148484G>A" "" "benign" "" "0000302832" "0" "30" "10" "69909844" "69909844" "subst" "0.000885884" "01943" "MYPN_000088" "g.69909844C>A" "" "" "" "MYPN(NM_001256268.2):c.411C>A (p.I137=), MYPN(NM_032578.3):c.1293C>A (p.I431=), MYPN(NM_032578.4):c.1293C>A (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68150087C>A" "" "likely benign" "" "0000302833" "0" "10" "10" "69918324" "69918324" "subst" "0.0107159" "01943" "MYPN_000039" "g.69918324G>A" "" "" "" "MYPN(NM_001256267.1):c.1399G>A (p.(Glu467Lys)), MYPN(NM_032578.3):c.1399G>A (p.E467K), MYPN(NM_032578.4):c.1399G>A (p.E467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68158567G>A" "" "benign" "" "0000302834" "0" "50" "10" "69925539" "69925539" "subst" "4.0795E-6" "01943" "MYPN_000095" "g.69925539G>A" "" "" "" "MYPN(NM_001256268.1):c.682G>A (p.G228S), MYPN(NM_032578.4):c.1564G>A (p.G522S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68165782G>A" "" "VUS" "" "0000302835" "0" "30" "10" "69881920" "69881920" "subst" "8.18317E-6" "01943" "MYPN_000193" "g.69881920C>T" "" "" "" "MYPN(NM_032578.3):c.725C>T (p.A242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68122163C>T" "" "likely benign" "" "0000302836" "0" "50" "10" "69926240" "69926240" "subst" "0.000389952" "01943" "MYPN_000100" "g.69926240G>A" "" "" "" "MYPN(NM_001256268.1):c.908G>A (p.R303H), MYPN(NM_032578.3):c.1790G>A (p.R597H), MYPN(NM_032578.4):c.1790G>A (p.R597H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68166483G>A" "" "VUS" "" "0000302837" "0" "90" "10" "69881289" "69881290" "del" "0" "01943" "MYPN_000067" "g.69881289_69881290del" "" "" "" "MYPN(NM_032578.3):c.94_95delAG (p.R32Efs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68121532_68121533del" "" "pathogenic" "" "0000302838" "0" "30" "10" "69902742" "69902742" "subst" "2.03232E-5" "01943" "MYPN_000196" "g.69902742C>T" "" "" "" "MYPN(NM_032578.3):c.948C>T (p.H316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68142985C>T" "" "likely benign" "" "0000349207" "0" "50" "10" "69948679" "69948679" "subst" "0" "02327" "MYPN_000178" "g.69948679C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68188922C>A" "" "VUS" "" "0000368329" "0" "50" "10" "69959174" "69959174" "subst" "0.00319439" "02438" "MYPN_000003" "g.69959174C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs71534278" "0" "" "" "g.68199417C>T" "" "VUS" "" "0000408466" "0" "70" "10" "69898720" "69909802" "del" "0" "02947" "MYPN_000203" "g.(69882098_69898720)_(69909802_69918242)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.69898720_69909802del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000446169" "21" "90" "10" "69959174" "69959174" "subst" "0.00319439" "00006" "MYPN_000003" "g.69959174C>T" "" "{PMID:Bagnall 2010:20801532}" "" "" "not in 340 control chromosomes; carries disease-causing MYH7-variant" "Germline" "" "" "0" "" "" "g.68199417C>T" "" "pathogenic" "" "0000446170" "1" "50" "10" "69881832" "69881832" "subst" "0" "00008" "MYPN_000032" "g.69881832A>G" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68122075A>G" "" "VUS" "" "0000446171" "2" "50" "10" "69935159" "69935159" "subst" "1.62536E-5" "00008" "MYPN_000033" "g.69935159G>A" "" "{PMID:Purevjav 2012:22286171}" "" "2546G>A" "DNA/protein descriptions conflicting" "Germline" "" "" "0" "" "" "g.68175402G>A" "" "VUS" "" "0000446172" "1" "70" "10" "69902810" "69902810" "subst" "0" "00008" "MYPN_000034" "g.69902810A>T" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68143053A>T" "" "likely pathogenic" "" "0000452225" "1" "70" "10" "69881443" "69881443" "del" "0" "00006" "MYPN_000001" "g.69881443del" "" "{PMID:Duboscq-Bidot 2008:18006477}" "BccI-" "248delT" "not in 800 control chromosomes; mRNA nonsense-mediated decay (85% reduced)" "Germline" "" "" "0" "" "" "g.68121686del" "" "likely pathogenic" "" "0000452226" "1" "70" "10" "69881443" "69881443" "del" "0" "00006" "MYPN_000001" "g.69881443del" "" "{PMID:Duboscq-Bidot 2008:18006477}" "BccI-" "I83fsX105" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68121686del" "" "likely pathogenic" "" "0000452227" "21" "70" "10" "69881443" "69881443" "del" "0" "00006" "MYPN_000001" "g.69881443del" "" "{PMID:Duboscq-Bidot 2008:18006477}" "BccI-" "248delT" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68121686del" "" "likely pathogenic" "" "0000452228" "21" "70" "10" "69881443" "69881443" "del" "0" "00006" "MYPN_000001" "g.69881443del" "" "{PMID:Duboscq-Bidot 2008:18006477}" "BccI-" "248delT" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68121686del" "" "likely pathogenic" "" "0000452229" "11" "70" "10" "69881443" "69881443" "del" "0" "00006" "MYPN_000001" "g.69881443del" "" "{PMID:Duboscq-Bidot 2008:18006477}" "BccI-" "248delT" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68121686del" "" "likely pathogenic" "" "0000452230" "21" "90" "10" "69957213" "69957213" "subst" "4.06273E-6" "00006" "MYPN_000002" "g.69957213G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68197456G>A" "" "pathogenic" "" "0000452231" "21" "90" "10" "69957213" "69957213" "subst" "4.06273E-6" "00006" "MYPN_000002" "g.69957213G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68197456G>A" "" "pathogenic" "" "0000452232" "11" "90" "10" "69957213" "69957213" "subst" "4.06273E-6" "00006" "MYPN_000002" "g.69957213G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68197456G>A" "" "pathogenic" "" "0000452233" "11" "90" "10" "69957213" "69957213" "subst" "4.06273E-6" "00006" "MYPN_000002" "g.69957213G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.68197456G>A" "" "pathogenic" "" "0000452234" "1" "90" "10" "69959174" "69959174" "subst" "0.00319439" "00006" "MYPN_000003" "g.69959174C>T" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "not in 800 control chromosomes" "Germline" "" "rs71534278" "0" "" "" "g.68199417C>T" "" "pathogenic" "" "0000452235" "1" "90" "10" "69961675" "69961675" "subst" "0.000252217" "00006" "MYPN_000004" "g.69961675G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "not in 800 control chromosomes" "Germline" "" "rs71534280" "0" "" "" "g.68201918G>A" "" "pathogenic" "" "0000452236" "0" "10" "10" "69881615" "69881615" "subst" "8.12559E-5" "00006" "MYPN_000013" "g.69881615T>C" "<0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "T907C (Y40Y)" "" "Germline" "" "" "0" "" "" "g.68121858T>C" "" "benign" "" "0000452237" "0" "10" "10" "69908157" "69908157" "subst" "0.0383388" "00006" "MYPN_000005" "g.69908157T>C" "0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "T1665C" "" "Germline" "" "rs11596653" "0" "" "" "g.68148400T>C" "" "benign" "" "0000452238" "0" "10" "10" "69909802" "69909802" "subst" "0.0808343" "00006" "MYPN_000006" "g.69909802G>A" "0.10" "{PMID:Duboscq-Bidot 2008:18006477}" "" "G1738A (Q417Q)" "" "Germline" "" "rs10997948" "0" "" "" "g.68150045G>A" "" "benign" "" "0000452239" "0" "10" "10" "69926097" "69926097" "subst" "0.632627" "00006" "MYPN_000007" "g.69926097T>C" "0.39" "{PMID:Duboscq-Bidot 2008:18006477}" "" "T2134C (S549S)" "" "Germline" "" "rs2673794" "0" "" "" "g.68166340T>C" "" "benign" "" "0000452240" "0" "10" "10" "69926112" "69926112" "subst" "0.000300635" "00006" "MYPN_000014" "g.69926112A>C" "<0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "A2149C (A554A)" "" "Germline" "" "" "0" "" "" "g.68166355A>C" "" "benign" "" "0000452241" "0" "10" "10" "69926319" "69926319" "subst" "0.165836" "00006" "MYPN_000015" "g.69926319C>A" "0.18" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C2356A (T623T)" "" "Germline" "" "rs1854624" "0" "" "" "g.68166562C>A" "" "benign" "" "0000452242" "0" "10" "10" "69926325" "69926325" "subst" "0.188256" "00006" "MYPN_000008" "g.69926325C>T" "0.18" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C2362T (P625P)" "" "Germline" "" "rs2673793" "0" "" "" "g.68166568C>T" "" "benign" "" "0000452243" "0" "10" "10" "69926334" "69926334" "subst" "0.441802" "00006" "MYPN_000016" "g.69926334C>G" "0.42" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C2371G" "" "Germline" "" "rs10823148" "0" "" "" "g.68166577C>G" "" "benign" "" "0000452244" "0" "10" "10" "69926385" "69926385" "subst" "0.000590261" "00006" "MYPN_000017" "g.69926385C>T" "<0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C2422T (P645P)" "" "Germline" "" "" "0" "" "" "g.68166628C>T" "" "benign" "" "0000452245" "0" "10" "10" "69933921" "69933921" "subst" "0.432927" "00006" "MYPN_000009" "g.69933921G>A" "0.40" "{PMID:Duboscq-Bidot 2008:18006477}" "" "G2559A" "" "Germline" "" "" "0" "" "" "g.68174164G>A" "" "benign" "" "0000452246" "0" "10" "10" "69933969" "69933969" "subst" "0.428263" "00006" "MYPN_000010" "g.69933969G>A" "0.40" "{PMID:Duboscq-Bidot 2008:18006477}" "" "G2607A" "" "Germline" "" "rs7916821" "0" "" "" "g.68174212G>A" "" "benign" "" "0000452247" "0" "10" "10" "69934012" "69934012" "subst" "0.0214852" "00006" "MYPN_000018" "g.69934012C>A" "0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C2650A (A721A)" "" "Germline" "" "rs71584491" "0" "" "" "g.68174255C>A" "" "benign" "" "0000452248" "0" "10" "10" "69934039" "69934039" "subst" "5.28116E-5" "00006" "MYPN_000019" "g.69934039G>A" "<0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "G2677A (T730T)" "" "Germline" "" "" "0" "" "" "g.68174282G>A" "" "benign" "" "0000452249" "0" "10" "10" "69934258" "69934258" "subst" "0.520294" "00006" "MYPN_000020" "g.69934258C>G" "0.48" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C2896G" "" "Germline" "" "rs3814182" "0" "" "" "g.68174501C>G" "" "benign" "" "0000452250" "0" "10" "10" "69934259" "69934259" "subst" "0.018361" "00006" "MYPN_000021" "g.69934259G>A" "0.03" "{PMID:Duboscq-Bidot 2008:18006477}" "" "G2897A" "" "Germline" "" "rs62620248" "0" "" "" "g.68174502G>A" "" "benign" "" "0000452251" "0" "10" "10" "69935157" "69935157" "subst" "4.87615E-5" "00006" "MYPN_000022" "g.69935157A>T" "<0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "A3129T" "" "Germline" "" "" "0" "" "" "g.68175400A>T" "" "benign" "" "0000452252" "0" "10" "10" "69948844" "69948844" "subst" "0.996318" "00006" "MYPN_000011" "g.69948844T>C" "<0.01" "{PMID:Duboscq-Bidot 2008:18006477}" "" "T3373C (V962V)" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs10733838" "0" "" "" "" "" "benign" "" "0000452253" "0" "10" "10" "69959242" "69959242" "subst" "0.433702" "00006" "MYPN_000012" "g.69959242C>A" "0.37" "{PMID:Duboscq-Bidot 2008:18006477}" "" "C3890A" "" "Germline" "" "rs7079481" "0" "" "" "g.68199485C>A" "" "benign" "" "0000452254" "1" "90" "10" "69881254" "69881254" "subst" "0.000950617" "00008" "MYPN_000023" "g.69881254A>G" "" "{PMID:Purevjav 2012:22286171}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.68121497A>G" "" "pathogenic" "" "0000452255" "1" "70" "10" "69881653" "69881653" "subst" "0" "00008" "MYPN_000024" "g.69881653A>G" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68121896A>G" "" "likely pathogenic" "" "0000452256" "0" "70" "10" "69966660" "69966660" "subst" "0" "00008" "MYPN_000026" "g.69966660G>C" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68206903G>C" "" "likely pathogenic" "" "0000452257" "1" "30" "10" "69881845" "69881845" "subst" "4.06398E-6" "00008" "MYPN_000025" "g.69881845C>A" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68122088C>A" "" "likely benign" "" "0000452258" "1" "50" "10" "69908208" "69908208" "subst" "0.000182839" "00008" "MYPN_000027" "g.69908208T>C" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68148451T>C" "" "VUS" "" "0000452259" "1" "90" "10" "69925560" "69925560" "subst" "0" "00008" "MYPN_000028" "g.69925560C>T" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68165803C>T" "" "pathogenic" "" "0000452260" "21" "90" "10" "69925560" "69925560" "subst" "0" "00008" "MYPN_000028" "g.69925560C>T" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68165803C>T" "" "pathogenic" "" "0000452261" "21" "90" "10" "69925560" "69925560" "subst" "0" "00008" "MYPN_000028" "g.69925560C>T" "" "{PMID:Purevjav 2012:22286171}" "" "" "no NMD mRNA; disrupted sarcomeric Z-discs, IHC abnormal diffuse MYPN" "Germline" "" "" "0" "" "" "g.68165803C>T" "" "pathogenic" "" "0000452262" "1" "70" "10" "69934370" "69934370" "subst" "0" "00008" "MYPN_000029" "g.69934370C>A" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68174613C>A" "" "likely pathogenic" "" "0000452263" "1" "90" "10" "69935168" "69935168" "subst" "8.12737E-6" "00008" "MYPN_000030" "g.69935168C>T" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68175411C>T" "" "pathogenic" "" "0000452264" "1" "70" "10" "69959174" "69959174" "subst" "0.00319439" "00008" "MYPN_000003" "g.69959174C>T" "" "{PMID:Purevjav 2012:22286171}" "" "L1161I" "DNA/protein descriptions conflicting" "Germline" "" "rs71534278" "0" "" "" "g.68199417C>T" "" "likely pathogenic" "" "0000452265" "1" "70" "10" "69959320" "69959320" "subst" "0.00375212" "00008" "MYPN_000031" "g.69959320C>A" "" "{PMID:Purevjav 2012:22286171}" "" "P1112L" "DNA/protein descriptions conflicting" "Germline" "" "" "0" "" "" "g.68199563C>A" "" "likely pathogenic" "" "0000452266" "1" "90" "10" "69881254" "69881254" "subst" "0.000950617" "00008" "MYPN_000023" "g.69881254A>G" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68121497A>G" "" "pathogenic" "" "0000452267" "1" "70" "10" "69926281" "69926281" "subst" "0" "00008" "MYPN_000035" "g.69926281G>A" "" "{PMID:Purevjav 2012:22286171}" "" "1933A>G" "DNA/protein descriptions conflicting" "Germline" "" "" "0" "" "" "g.68166524G>A" "" "likely pathogenic" "" "0000452268" "1" "70" "10" "69935159" "69935159" "subst" "1.62536E-5" "00008" "MYPN_000033" "g.69935159G>A" "" "{PMID:Purevjav 2012:22286171}" "" "2546G>A" "DNA/protein descriptions conflicting" "Germline" "" "" "0" "" "" "g.68175402G>A" "" "likely pathogenic" "" "0000452269" "1" "70" "10" "69948820" "69948820" "subst" "0" "00008" "MYPN_000036" "g.69948820C>A" "" "{PMID:Purevjav 2012:22286171}" "" "" "" "Germline" "" "" "0" "" "" "g.68189063C>A" "" "likely pathogenic" "" "0000452270" "1" "30" "10" "69881660" "69881660" "subst" "0.000178828" "00006" "MYPN_000037" "g.69881660C>G" "" "{PMID:Purevjav 2012:22286171}" "" "C>G (A155A)" "" "Germline" "" "rs142867001" "0" "" "" "g.68121903C>G" "" "likely benign" "" "0000452271" "1" "30" "10" "69882038" "69882038" "subst" "0.00886226" "00006" "MYPN_000038" "g.69882038A>G" "" "{PMID:Purevjav 2012:22286171}" "" "A>G (P281P)" "" "Germline" "" "rs74143022" "0" "" "" "g.68122281A>G" "" "likely benign" "" "0000452272" "1" "30" "10" "69908157" "69908157" "subst" "0.0383388" "00006" "MYPN_000005" "g.69908157T>C" "" "{PMID:Purevjav 2012:22286171}" "" "T>C (V393A)" "" "Germline" "" "rs11596653" "0" "" "" "g.68148400T>C" "" "likely benign" "" "0000452273" "1" "30" "10" "69918324" "69918324" "subst" "0.0107159" "00006" "MYPN_000039" "g.69918324G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (E467K)" "" "Germline" "" "rs74143030" "0" "" "" "g.68158567G>A" "" "likely benign" "" "0000452274" "1" "30" "10" "69918344" "69918344" "subst" "1.62682E-5" "00006" "MYPN_000040" "g.69918344T>C" "" "{PMID:Purevjav 2012:22286171}" "" "T>C (T473T)" "" "Germline" "" "" "0" "" "" "g.68158587T>C" "" "likely benign" "" "0000452275" "1" "30" "10" "69926290" "69926290" "subst" "9.74825E-5" "00006" "MYPN_000041" "g.69926290G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (E614K)" "" "Germline" "" "rs143338091" "0" "" "" "g.68166533G>A" "" "likely benign" "" "0000452276" "1" "30" "10" "69926319" "69926319" "subst" "0.165836" "00006" "MYPN_000015" "g.69926319C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (T623T)" "" "Germline" "" "rs1854624" "0" "" "" "g.68166562C>A" "" "likely benign" "" "0000452277" "1" "30" "10" "69926334" "69926334" "subst" "0.441802" "00006" "MYPN_000016" "g.69926334C>G" "" "{PMID:Purevjav 2012:22286171}" "" "C>G (F628L)" "" "Germline" "" "rs10823148" "0" "" "" "g.68166577C>G" "" "likely benign" "" "0000452278" "1" "30" "10" "69933921" "69933921" "subst" "0" "00006" "MYPN_000042" "g.69933921G>C" "" "{PMID:Purevjav 2012:22286171}" "" "C>G (N691S)" "" "Germline" "" "rs10997975" "0" "" "" "g.68174164G>C" "" "likely benign" "" "0000452279" "1" "30" "10" "69934258" "69934258" "subst" "0.520294" "00006" "MYPN_000020" "g.69934258C>G" "" "{PMID:Purevjav 2012:22286171}" "" "G>C (S803R)" "" "Germline" "" "rs3814182" "0" "" "" "g.68174501C>G" "" "likely benign" "" "0000452280" "1" "30" "10" "69934259" "69934259" "subst" "0.018361" "00006" "MYPN_000021" "g.69934259G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (G804R)" "" "Germline" "" "rs62620248" "0" "" "" "g.68174502G>A" "" "likely benign" "" "0000452281" "1" "30" "10" "69948822" "69948822" "subst" "6.1068E-5" "00006" "MYPN_000043" "g.69948822G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (R955Q)" "" "Germline" "" "rs149887823" "0" "" "" "g.68189065G>A" "" "likely benign" "" "0000452282" "1" "30" "10" "69957169" "69957169" "subst" "0" "00006" "MYPN_000044" "g.69957169A>G" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (P1073P)" "" "Germline" "" "" "0" "" "" "g.68197412A>G" "" "likely benign" "" "0000452283" "1" "30" "10" "69959242" "69959242" "subst" "0.433702" "00006" "MYPN_000012" "g.69959242C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (P1135T)" "" "Germline" "" "rs7079481" "0" "" "" "g.68199485C>A" "" "likely benign" "" "0000452284" "1" "30" "10" "69959256" "69959256" "subst" "0" "00006" "MYPN_000045" "g.69959256C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (R1139R)" "" "Germline" "" "" "0" "" "" "g.68199499C>A" "" "likely benign" "" "0000452285" "1" "30" "10" "69970166" "69970166" "subst" "0" "00006" "MYPN_000046" "g.69970166T>G" "" "{PMID:Purevjav 2012:22286171}" "" "T>G (V1306G)" "" "Germline" "" "" "0" "" "" "g.68210409T>G" "" "likely benign" "" "0000452286" "1" "30" "10" "69905281" "69905281" "subst" "0" "00006" "MYPN_000047" "g.69905281T>C" "" "{PMID:Purevjav 2012:22286171}" "" "C>T (N376N)" "not in 2040 control chromosomes" "Germline" "" "" "0" "" "" "g.68145524T>C" "" "likely benign" "" "0000452287" "1" "30" "10" "69905257" "69905257" "subst" "0.00154979" "00006" "MYPN_000048" "g.69905257C>T" "" "{PMID:Purevjav 2012:22286171}" "" "C>T (G368G)" "not in 2040 control chromosomes" "Germline" "" "rs144764983" "0" "" "" "g.68145500C>T" "" "likely benign" "" "0000452288" "1" "30" "10" "69908157" "69908157" "subst" "0.0383388" "00006" "MYPN_000005" "g.69908157T>C" "" "{PMID:Purevjav 2012:22286171}" "" "T>C (V393A)" "" "Germline" "" "rs11596653" "0" "" "" "g.68148400T>C" "" "likely benign" "" "0000452289" "1" "30" "10" "69909802" "69909802" "subst" "0.0808343" "00006" "MYPN_000006" "g.69909802G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (Q417Q)" "" "Germline" "" "rs10997948" "0" "" "" "g.68150045G>A" "" "likely benign" "" "0000452290" "1" "30" "10" "69918324" "69918324" "subst" "0.0107159" "00006" "MYPN_000039" "g.69918324G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (E467K)" "" "Germline" "" "rs74143030" "0" "" "" "g.68158567G>A" "" "likely benign" "" "0000452291" "1" "30" "10" "69918344" "69918344" "subst" "1.62682E-5" "00006" "MYPN_000040" "g.69918344T>C" "" "{PMID:Purevjav 2012:22286171}" "" "T>C (T473T)" "" "Germline" "" "" "0" "" "" "g.68158587T>C" "" "likely benign" "" "0000452292" "1" "30" "10" "69926097" "69926097" "subst" "0.632627" "00006" "MYPN_000007" "g.69926097T>C" "" "{PMID:Purevjav 2012:22286171}" "" "T>C (S549S)" "" "Germline" "" "rs2673794" "0" "" "" "g.68166340T>C" "" "likely benign" "" "0000452293" "1" "30" "10" "69926290" "69926290" "subst" "9.74825E-5" "00006" "MYPN_000041" "g.69926290G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (E614K)" "" "Germline" "" "rs143338091" "0" "" "" "g.68166533G>A" "" "likely benign" "" "0000452294" "1" "30" "10" "69926319" "69926319" "subst" "0.165836" "00006" "MYPN_000015" "g.69926319C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (T623T)" "" "Germline" "" "rs1854624" "0" "" "" "g.68166562C>A" "" "likely benign" "" "0000452295" "1" "30" "10" "69926325" "69926325" "subst" "0.188256" "00006" "MYPN_000008" "g.69926325C>T" "" "{PMID:Purevjav 2012:22286171}" "" "C>T (P625P)" "" "Germline" "" "rs2673793" "0" "" "" "g.68166568C>T" "" "likely benign" "" "0000452296" "1" "30" "10" "69926334" "69926334" "subst" "0.441802" "00006" "MYPN_000016" "g.69926334C>G" "" "{PMID:Purevjav 2012:22286171}" "" "C>G (F628L)" "" "Germline" "" "rs10823148" "0" "" "" "g.68166577C>G" "" "likely benign" "" "0000452297" "1" "30" "10" "69933921" "69933921" "subst" "0" "00006" "MYPN_000042" "g.69933921G>C" "" "{PMID:Purevjav 2012:22286171}" "" "C>G (N691S)" "" "Germline" "" "rs10997975" "0" "" "" "g.68174164G>C" "" "likely benign" "" "0000452298" "1" "30" "10" "69933969" "69933969" "subst" "0.428263" "00006" "MYPN_000010" "g.69933969G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (S707N)" "" "Germline" "" "rs7916821" "0" "" "" "g.68174212G>A" "" "likely benign" "" "0000452299" "1" "30" "10" "69934012" "69934012" "subst" "0.0214852" "00006" "MYPN_000018" "g.69934012C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (A721A)" "" "Germline" "" "rs71584491" "0" "" "" "g.68174255C>A" "" "likely benign" "" "0000452300" "1" "30" "10" "69934258" "69934258" "subst" "0.520294" "00006" "MYPN_000020" "g.69934258C>G" "" "{PMID:Purevjav 2012:22286171}" "" "G>C (S803R)" "" "Germline" "" "rs3814182" "0" "" "" "g.68174501C>G" "" "likely benign" "" "0000452301" "1" "30" "10" "69934259" "69934259" "subst" "0.018361" "00006" "MYPN_000021" "g.69934259G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (G804R)" "" "Germline" "" "rs62620248" "0" "" "" "g.68174502G>A" "" "likely benign" "" "0000452302" "1" "30" "10" "69948822" "69948822" "subst" "6.1068E-5" "00006" "MYPN_000043" "g.69948822G>A" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (R955Q)" "" "Germline" "" "rs149887823" "0" "" "" "g.68189065G>A" "" "likely benign" "" "0000452303" "1" "30" "10" "69957169" "69957169" "subst" "0" "00006" "MYPN_000044" "g.69957169A>G" "" "{PMID:Purevjav 2012:22286171}" "" "G>A (P1073P)" "" "Germline" "" "" "0" "" "" "g.68197412A>G" "" "likely benign" "" "0000452304" "1" "30" "10" "69959242" "69959242" "subst" "0.433702" "00006" "MYPN_000012" "g.69959242C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (P1135T)" "" "Germline" "" "rs7079481" "0" "" "" "g.68199485C>A" "" "likely benign" "" "0000452305" "1" "30" "10" "69959256" "69959256" "subst" "0" "00006" "MYPN_000045" "g.69959256C>A" "" "{PMID:Purevjav 2012:22286171}" "" "C>A (R1139R)" "" "Germline" "" "" "0" "" "" "g.68199499C>A" "" "likely benign" "" "0000452306" "1" "30" "10" "69970166" "69970166" "subst" "0" "00006" "MYPN_000046" "g.69970166T>G" "" "{PMID:Purevjav 2012:22286171}" "" "T>G (V1306G)" "" "Germline" "" "" "0" "" "" "g.68210409T>G" "" "likely benign" "" "0000452307" "20" "50" "10" "69948821" "69948821" "subst" "0.000472232" "00006" "MYPN_000049" "g.69948821C>T" "1/255 cases" "{PMID:Meyer 2013:22892539}" "MspI-" "C>T R955W" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.68189064C>T" "" "VUS" "" "0000452308" "20" "90" "10" "69948840" "69948840" "subst" "0" "00006" "MYPN_000050" "g.69948840C>T" "1/255 cases" "{PMID:Meyer 2013:22892539}" "BfaI+" "" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.68189083C>T" "" "pathogenic" "" "0000452309" "0" "10" "10" "69902919" "69902919" "subst" "0.0518623" "00006" "MYPN_000051" "g.69902919T>C" "9/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs28429181" "0" "" "" "g.68143162T>C" "" "benign" "" "0000452310" "0" "10" "10" "69905300" "69905300" "subst" "0.149945" "00006" "MYPN_000052" "g.69905300G>A" "44/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs2817760" "0" "" "" "g.68145543G>A" "" "benign" "" "0000452311" "0" "10" "10" "69908113" "69908113" "subst" "0.00611074" "00006" "MYPN_000053" "g.69908113C>T" "6/255 cases" "{PMID:Meyer 2013:22892539}" "" "I378I" "" "Germline" "" "rs145701607" "0" "" "" "g.68148356C>T" "" "benign" "" "0000452312" "0" "10" "10" "69908157" "69908157" "subst" "0.0383388" "00006" "MYPN_000005" "g.69908157T>C" "2/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs11596653" "0" "" "" "g.68148400T>C" "" "benign" "" "0000452313" "0" "10" "10" "69908189" "69908189" "subst" "0" "00006" "MYPN_000054" "g.69908189T>C" "1/255 cases" "{PMID:Meyer 2013:22892539}" "" "L404L" "" "Germline" "" "" "0" "" "" "g.68148432T>C" "" "benign" "" "0000452314" "0" "10" "10" "69926334" "69926334" "subst" "0.441802" "00006" "MYPN_000016" "g.69926334C>G" "5/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs10823148" "0" "" "" "g.68166577C>G" "" "benign" "" "0000452315" "0" "10" "10" "69933921" "69933921" "subst" "0.432927" "00006" "MYPN_000009" "g.69933921G>A" "2/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "" "0" "" "" "g.68174164G>A" "" "benign" "" "0000452316" "0" "10" "10" "69933969" "69933969" "subst" "0.428263" "00006" "MYPN_000010" "g.69933969G>A" "1/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs7916821" "0" "" "" "g.68174212G>A" "" "benign" "" "0000452317" "0" "10" "10" "69934258" "69934258" "subst" "0.520294" "00006" "MYPN_000020" "g.69934258C>G" "1/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs3814182" "0" "" "" "g.68174501C>G" "" "benign" "" "0000452318" "0" "10" "10" "69935059" "69935059" "subst" "0.65867" "00006" "MYPN_000055" "g.69935059A>G" "72/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs7097776" "0" "" "" "g.68175302A>G" "" "benign" "" "0000452319" "0" "10" "10" "69948844" "69948844" "subst" "0" "00006" "MYPN_000056" "g.69948844C>T" "1/255 cases" "{PMID:Meyer 2013:22892539}" "" "V962V" "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." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000452320" "0" "10" "10" "69954090" "69954090" "subst" "0.0164448" "00006" "MYPN_000057" "g.69954090A>G" "1/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs71584497" "0" "" "" "g.68194333A>G" "" "benign" "" "0000452321" "0" "10" "10" "69959242" "69959242" "subst" "0.433702" "00006" "MYPN_000012" "g.69959242C>A" "163/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Germline" "" "rs7079481" "0" "" "" "g.68199485C>A" "" "benign" "" "0000452322" "0" "90" "10" "69925560" "69925560" "subst" "0" "00006" "MYPN_000028" "g.69925560C>T" "" "{PMID:Purevjav 2012:22286171}" "" "" "expression cloning neonatal rat cardiomyocytes, disturbed Z-disc assembly (dominant effect), impaired nuclear localisation" "In vitro (cloned)" "" "" "0" "" "" "g.68165803C>T" "" "NA" "" "0000452323" "0" "70" "10" "69881254" "69881254" "subst" "0.000950617" "00006" "MYPN_000023" "g.69881254A>G" "" "{PMID:Purevjav 2012:22286171}" "" "" "expression cloning neonatal rat cardiomyocytes, normal Z-disc assembly, impaired nuclear localisation" "In vitro (cloned)" "" "" "0" "" "" "g.68121497A>G" "" "NA" "" "0000452324" "0" "90" "10" "69881254" "69881254" "subst" "0.000950617" "00006" "MYPN_000023" "g.69881254A>G" "" "{PMID:Purevjav 2012:22286171}" "" "" "transgenic mouse (overexpression)" "animal model" "" "" "0" "" "" "g.68121497A>G" "" "pathogenic" "" "0000452325" "0" "90" "10" "69961675" "69961675" "subst" "0.000252217" "00006" "MYPN_000004" "g.69961675G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "eGFP expression cloning RNC cells sarcomeric apparatus disorganization, abnormal cells, reduced cell survival" "In vitro (cloned)" "" "" "0" "" "" "g.68201918G>A" "" "NA" "" "0000452326" "0" "90" "10" "69959174" "69959174" "subst" "0.00319439" "00006" "MYPN_000003" "g.69959174C>T" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "eGFP expression cloning RNC cells sarcomeric apparatus disorganization, abnormal cells, reduced cell survival" "In vitro (cloned)" "" "" "0" "" "" "g.68199417C>T" "" "NA" "" "0000452327" "0" "50" "10" "69957213" "69957213" "subst" "4.06273E-6" "00006" "MYPN_000002" "g.69957213G>A" "" "{PMID:Duboscq-Bidot 2008:18006477}" "" "" "eGFP expression cloning RNC cells normal distribution" "In vitro (cloned)" "" "" "0" "" "" "g.68197456G>A" "" "NA" "" "0000452328" "3" "50" "10" "69925550" "69925550" "subst" "0" "00006" "MYPN_000000" "g.69925550A>G" "" "{PMID:Jiao 2010:20812196}" "" "A1795G (StoS)" "variant in pigs" "animal model" "" "" "0" "" "" "g.68165793A>G" "" "VUS" "" "0000540329" "0" "50" "10" "69881254" "69881254" "subst" "0.000950617" "02330" "MYPN_000023" "g.69881254A>G" "" "" "" "MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121497A>G" "" "VUS" "" "0000540330" "0" "50" "10" "69881254" "69881254" "subst" "0.000950617" "01943" "MYPN_000023" "g.69881254A>G" "" "" "" "MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121497A>G" "" "VUS" "" "0000540331" "0" "50" "10" "69881254" "69881254" "subst" "0.000950617" "02325" "MYPN_000023" "g.69881254A>G" "" "" "" "MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121497A>G" "" "VUS" "" "0000540332" "0" "30" "10" "69881254" "69881254" "subst" "0.000950617" "02326" "MYPN_000023" "g.69881254A>G" "" "" "" "MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121497A>G" "" "likely benign" "" "0000540333" "0" "30" "10" "69881260" "69881260" "subst" "0.000166571" "02330" "MYPN_000204" "g.69881260C>G" "" "" "" "MYPN(NM_032578.3):c.65C>G (p.A22G), MYPN(NM_032578.4):c.65C>G (p.A22G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121503C>G" "" "likely benign" "" "0000540334" "0" "50" "10" "69881260" "69881260" "subst" "0.000166571" "01943" "MYPN_000204" "g.69881260C>G" "" "" "" "MYPN(NM_032578.3):c.65C>G (p.A22G), MYPN(NM_032578.4):c.65C>G (p.A22G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121503C>G" "" "VUS" "" "0000540335" "0" "50" "10" "69881265" "69881265" "del" "0" "02330" "MYPN_000065" "g.69881265del" "" "" "" "MYPN(NM_032578.4):c.70delA (p.T24Pfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121508del" "" "VUS" "" "0000540336" "0" "50" "10" "69881275" "69881275" "subst" "1.62516E-5" "02327" "MYPN_000066" "g.69881275G>C" "" "" "" "MYPN(NM_032578.4):c.80G>C (p.R27P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121518G>C" "" "VUS" "" "0000540337" "0" "50" "10" "69881298" "69881298" "subst" "4.06415E-6" "02330" "MYPN_000205" "g.69881298G>T" "" "" "" "MYPN(NM_032578.3):c.103G>T (p.A35S), MYPN(NM_032578.4):c.103G>T (p.A35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121541G>T" "" "VUS" "" "0000540338" "0" "30" "10" "69881298" "69881298" "subst" "4.06415E-6" "01943" "MYPN_000205" "g.69881298G>T" "" "" "" "MYPN(NM_032578.3):c.103G>T (p.A35S), MYPN(NM_032578.4):c.103G>T (p.A35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121541G>T" "" "likely benign" "" "0000540339" "0" "30" "10" "69881298" "69881298" "subst" "4.06415E-6" "02327" "MYPN_000205" "g.69881298G>T" "" "" "" "MYPN(NM_032578.3):c.103G>T (p.A35S), MYPN(NM_032578.4):c.103G>T (p.A35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121541G>T" "" "likely benign" "" "0000540340" "0" "30" "10" "69881300" "69881300" "subst" "8.1283E-6" "02326" "MYPN_000206" "g.69881300G>A" "" "" "" "MYPN(NM_032578.3):c.105G>A (p.A35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121543G>A" "" "likely benign" "" "0000540341" "0" "30" "10" "69881333" "69881333" "subst" "0" "02327" "MYPN_000207" "g.69881333T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121576T>C" "" "likely benign" "" "0000540342" "0" "30" "10" "69881361" "69881361" "subst" "0" "01943" "MYPN_000208" "g.69881361G>A" "" "" "" "MYPN(NM_032578.3):c.166G>A (p.G56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121604G>A" "" "likely benign" "" "0000540343" "0" "50" "10" "69881399" "69881399" "subst" "0" "02327" "MYPN_000209" "g.69881399C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121642C>A" "" "VUS" "" "0000540344" "0" "50" "10" "69881446" "69881446" "subst" "4.46795E-5" "02325" "MYPN_000179" "g.69881446A>G" "" "" "" "MYPN(NM_032578.3):c.251A>G (p.N84S), MYPN(NM_032578.4):c.251A>G (p.N84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121689A>G" "" "VUS" "" "0000540345" "0" "30" "10" "69881521" "69881521" "subst" "4.06273E-6" "02327" "MYPN_000210" "g.69881521C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121764C>T" "" "likely benign" "" "0000540346" "0" "50" "10" "69881590" "69881590" "subst" "0.000162526" "02330" "MYPN_000185" "g.69881590C>T" "" "" "" "MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121833C>T" "" "VUS" "" "0000540347" "0" "30" "10" "69881590" "69881590" "subst" "0.000162526" "01943" "MYPN_000185" "g.69881590C>T" "" "" "" "MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121833C>T" "" "likely benign" "" "0000540348" "0" "30" "10" "69881590" "69881590" "subst" "0.000162526" "02327" "MYPN_000185" "g.69881590C>T" "" "" "" "MYPN(NM_032578.3):c.395C>T (p.P132L), MYPN(NM_032578.4):c.395C>T (p.P132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121833C>T" "" "likely benign" "" "0000540349" "0" "50" "10" "69881639" "69881639" "dup" "0" "02330" "MYPN_000188" "g.69881639dup" "" "" "" "MYPN(NM_001256267.1):c.444dupA (p.(Val149fs)), MYPN(NM_032578.4):c.444dupA (p.V149Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121882dup" "" "VUS" "" "0000540350" "0" "10" "10" "69881660" "69881660" "subst" "1.62571E-5" "02330" "MYPN_000211" "g.69881660C>A" "" "" "" "MYPN(NM_032578.3):c.465C>A (p.A155=), MYPN(NM_032578.4):c.465C>A (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121903C>A" "" "benign" "" "0000540351" "0" "10" "10" "69881660" "69881660" "subst" "0.000178828" "02330" "MYPN_000037" "g.69881660C>G" "" "" "" "MYPN(NM_032578.4):c.465C>G (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121903C>G" "" "benign" "" "0000540352" "0" "30" "10" "69881660" "69881660" "subst" "0" "02326" "MYPN_000212" "g.69881660C>T" "" "" "" "MYPN(NM_032578.3):c.465C>T (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121903C>T" "" "likely benign" "" "0000540353" "0" "30" "10" "69881797" "69881797" "subst" "0" "02327" "MYPN_000213" "g.69881797A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122040A>C" "" "likely benign" "" "0000540354" "0" "50" "10" "69881844" "69881844" "subst" "0" "02330" "MYPN_000214" "g.69881844G>A" "" "" "" "MYPN(NM_032578.4):c.649G>A (p.A217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122087G>A" "" "VUS" "" "0000540355" "0" "30" "10" "69881855" "69881855" "subst" "0.000142226" "02327" "MYPN_000192" "g.69881855G>A" "" "" "" "MYPN(NM_032578.3):c.660G>A (p.R220=), MYPN(NM_032578.4):c.660G>A (p.R220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122098G>A" "" "likely benign" "" "0000540356" "0" "30" "10" "69881857" "69881857" "subst" "0.000142209" "02326" "MYPN_000061" "g.69881857A>T" "" "" "" "MYPN(NM_032578.3):c.662A>T (p.D221V), MYPN(NM_032578.4):c.662A>T (p.D221V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122100A>T" "" "likely benign" "" "0000540357" "0" "30" "10" "69881929" "69881929" "subst" "0.000205327" "02330" "MYPN_000215" "g.69881929C>G" "" "" "" "MYPN(NM_032578.3):c.734C>G (p.A245G), MYPN(NM_032578.4):c.734C>G (p.A245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122172C>G" "" "likely benign" "" "0000540358" "0" "30" "10" "69881929" "69881929" "subst" "0.000205327" "01943" "MYPN_000215" "g.69881929C>G" "" "" "" "MYPN(NM_032578.3):c.734C>G (p.A245G), MYPN(NM_032578.4):c.734C>G (p.A245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122172C>G" "" "likely benign" "" "0000540359" "0" "30" "10" "69881929" "69881929" "subst" "0.000205327" "02326" "MYPN_000215" "g.69881929C>G" "" "" "" "MYPN(NM_032578.3):c.734C>G (p.A245G), MYPN(NM_032578.4):c.734C>G (p.A245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122172C>G" "" "likely benign" "" "0000540360" "0" "30" "10" "69881952" "69881952" "subst" "6.61781E-5" "02325" "MYPN_000195" "g.69881952G>C" "" "" "" "MYPN(NM_032578.3):c.757G>C (p.G253R), MYPN(NM_032578.4):c.757G>C (p.G253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122195G>C" "" "likely benign" "" "0000540361" "0" "70" "10" "69882001" "69882001" "subst" "4.0827E-6" "02327" "MYPN_000216" "g.69882001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122244C>T" "" "likely pathogenic" "" "0000540362" "0" "50" "10" "69882040" "69882040" "subst" "0.000110084" "01804" "MYPN_000217" "g.69882040A>G" "" "" "" "MYPN(NM_001256267.1):c.845A>G (p.(Glu282Gly)), MYPN(NM_032578.4):c.845A>G (p.E282G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122283A>G" "" "VUS" "" "0000540363" "0" "50" "10" "69882040" "69882040" "subst" "0.000110084" "02327" "MYPN_000217" "g.69882040A>G" "" "" "" "MYPN(NM_001256267.1):c.845A>G (p.(Glu282Gly)), MYPN(NM_032578.4):c.845A>G (p.E282G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122283A>G" "" "VUS" "" "0000540364" "0" "30" "10" "69895962" "69895962" "subst" "0" "01943" "MYPN_000218" "g.69895962C>T" "" "" "" "MYPN(NM_001256268.1):c.-166-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68136205C>T" "" "likely benign" "" "0000540365" "0" "30" "10" "69896032" "69896036" "del" "0" "01943" "MYPN_000219" "g.69896032_69896036del" "" "" "" "MYPN(NM_001256268.1):c.-113+12_-113+16delTCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68136275_68136279del" "" "likely benign" "" "0000540366" "0" "30" "10" "69902679" "69902679" "subst" "3.25166E-5" "02327" "MYPN_000074" "g.69902679A>T" "" "" "" "MYPN(NM_032578.3):c.903-18A>T, MYPN(NM_032578.4):c.903-18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68142922A>T" "" "likely benign" "" "0000540367" "0" "30" "10" "69902780" "69902780" "subst" "3.2532E-5" "02327" "MYPN_000220" "g.69902780C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68143023C>T" "" "likely benign" "" "0000540368" "0" "50" "10" "69902840" "69902840" "subst" "0.000244234" "02327" "MYPN_000221" "g.69902840C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68143083C>A" "" "VUS" "" "0000540369" "0" "50" "10" "69902868" "69902868" "subst" "0" "01943" "MYPN_000222" "g.69902868A>T" "" "" "" "MYPN(NM_001256268.1):c.192A>T (p.I64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68143111A>T" "" "VUS" "" "0000540370" "0" "30" "10" "69905257" "69905257" "subst" "0.00154979" "01943" "MYPN_000048" "g.69905257C>T" "" "" "" "MYPN(NM_001256268.2):c.222C>T (p.G74=), MYPN(NM_032578.3):c.1104C>T (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68145500C>T" "" "likely benign" "" "0000540371" "0" "50" "10" "69905283" "69905283" "subst" "0.000524911" "02330" "MYPN_000079" "g.69905283G>A" "" "" "" "MYPN(NM_001256268.1):c.248G>A (p.R83Q), MYPN(NM_001256268.2):c.248G>A (p.R83Q), MYPN(NM_032578.3):c.1130G>A (p.R377Q), MYPN(NM_032578.4):c.1130G>A ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68145526G>A" "" "VUS" "" "0000540372" "0" "30" "10" "69905283" "69905283" "subst" "0.000524911" "02327" "MYPN_000079" "g.69905283G>A" "" "" "" "MYPN(NM_001256268.1):c.248G>A (p.R83Q), MYPN(NM_001256268.2):c.248G>A (p.R83Q), MYPN(NM_032578.3):c.1130G>A (p.R377Q), MYPN(NM_032578.4):c.1130G>A ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68145526G>A" "" "likely benign" "" "0000540373" "0" "30" "10" "69908107" "69908107" "subst" "0" "02327" "MYPN_000223" "g.69908107C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148350C>A" "" "likely benign" "" "0000540374" "0" "10" "10" "69908113" "69908113" "subst" "0.00611074" "02330" "MYPN_000053" "g.69908113C>T" "" "" "" "MYPN(NM_001256268.1):c.252C>T (p.I84=), MYPN(NM_001256268.2):c.252C>T (p.I84=), MYPN(NM_032578.3):c.1134C>T (p.I378=), MYPN(NM_032578.4):c.1134C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148356C>T" "" "benign" "" "0000540375" "0" "30" "10" "69908113" "69908113" "subst" "0.00611074" "01943" "MYPN_000053" "g.69908113C>T" "" "" "" "MYPN(NM_001256268.1):c.252C>T (p.I84=), MYPN(NM_001256268.2):c.252C>T (p.I84=), MYPN(NM_032578.3):c.1134C>T (p.I378=), MYPN(NM_032578.4):c.1134C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148356C>T" "" "likely benign" "" "0000540376" "0" "10" "10" "69908113" "69908113" "subst" "0.00611074" "02327" "MYPN_000053" "g.69908113C>T" "" "" "" "MYPN(NM_001256268.1):c.252C>T (p.I84=), MYPN(NM_001256268.2):c.252C>T (p.I84=), MYPN(NM_032578.3):c.1134C>T (p.I378=), MYPN(NM_032578.4):c.1134C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148356C>T" "" "benign" "" "0000540377" "0" "30" "10" "69908113" "69908113" "subst" "0.00611074" "02325" "MYPN_000053" "g.69908113C>T" "" "" "" "MYPN(NM_001256268.1):c.252C>T (p.I84=), MYPN(NM_001256268.2):c.252C>T (p.I84=), MYPN(NM_032578.3):c.1134C>T (p.I378=), MYPN(NM_032578.4):c.1134C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148356C>T" "" "likely benign" "" "0000540378" "0" "10" "10" "69908113" "69908113" "subst" "0.00611074" "02326" "MYPN_000053" "g.69908113C>T" "" "" "" "MYPN(NM_001256268.1):c.252C>T (p.I84=), MYPN(NM_001256268.2):c.252C>T (p.I84=), MYPN(NM_032578.3):c.1134C>T (p.I378=), MYPN(NM_032578.4):c.1134C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148356C>T" "" "benign" "" "0000540380" "0" "30" "10" "69908215" "69908215" "subst" "0.000597338" "02327" "MYPN_000083" "g.69908215C>A" "" "" "" "MYPN(NM_001256268.2):c.354C>A (p.T118=), MYPN(NM_032578.3):c.1236C>A (p.T412=), MYPN(NM_032578.4):c.1236C>A (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68148458C>A" "" "likely benign" "" "0000540381" "0" "30" "10" "69909786" "69909786" "subst" "0" "02327" "MYPN_000224" "g.69909786C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68150029C>T" "" "likely benign" "" "0000540382" "0" "30" "10" "69909790" "69909790" "subst" "0" "02327" "MYPN_000225" "g.69909790C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68150033C>T" "" "likely benign" "" "0000540383" "0" "30" "10" "69909844" "69909844" "subst" "0.000885884" "02327" "MYPN_000088" "g.69909844C>A" "" "" "" "MYPN(NM_001256268.2):c.411C>A (p.I137=), MYPN(NM_032578.3):c.1293C>A (p.I431=), MYPN(NM_032578.4):c.1293C>A (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68150087C>A" "" "likely benign" "" "0000540384" "0" "50" "10" "69918315" "69918315" "subst" "4.06359E-6" "02327" "MYPN_000226" "g.69918315C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158558C>T" "" "VUS" "" "0000540385" "0" "50" "10" "69918340" "69918340" "subst" "0" "02325" "MYPN_000227" "g.69918340G>A" "" "" "" "MYPN(NM_001256268.2):c.533G>A (p.G178E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158583G>A" "" "VUS" "" "0000540386" "0" "10" "10" "69921472" "69921472" "subst" "0.00114599" "02327" "MYPN_000092" "g.69921472T>A" "" "" "" "MYPN(NM_001256268.2):c.578-14T>A, MYPN(NM_032578.3):c.1460-14T>A, MYPN(NM_032578.4):c.1460-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68161715T>A" "" "benign" "" "0000540387" "0" "50" "10" "69921492" "69921492" "subst" "0.000101816" "02327" "MYPN_000093" "g.69921492G>A" "" "" "" "MYPN(NM_032578.4):c.1466G>A (p.R489Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68161735G>A" "" "VUS" "" "0000540388" "0" "30" "10" "69921515" "69921515" "subst" "4.07551E-6" "02326" "MYPN_000228" "g.69921515G>A" "" "" "" "MYPN(NM_032578.3):c.1483+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68161758G>A" "" "likely benign" "" "0000540389" "0" "50" "10" "69925569" "69925569" "subst" "2.8681E-5" "01804" "MYPN_000229" "g.69925569G>A" "" "" "" "MYPN(NM_032578.4):c.1594G>A (p.V532M, p.(Val532Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68165812G>A" "" "VUS" "" "0000540390" "0" "10" "10" "69926112" "69926112" "subst" "0.000300635" "02330" "MYPN_000014" "g.69926112A>C" "" "" "" "MYPN(NM_001256268.2):c.780A>C (p.A260=), MYPN(NM_032578.3):c.1662A>C (p.A554=), MYPN(NM_032578.4):c.1662A>C (p.A554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166355A>C" "" "benign" "" "0000540391" "0" "30" "10" "69926175" "69926175" "subst" "7.72019E-5" "02327" "MYPN_000099" "g.69926175A>G" "" "" "" "MYPN(NM_001256268.2):c.843A>G (p.K281=), MYPN(NM_032578.3):c.1725A>G (p.K575=), MYPN(NM_032578.4):c.1725A>G (p.K575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166418A>G" "" "likely benign" "" "0000540392" "0" "50" "10" "69926207" "69926207" "subst" "9.75023E-5" "02330" "MYPN_000230" "g.69926207A>G" "" "" "" "MYPN(NM_032578.4):c.1757A>G (p.N586S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166450A>G" "" "VUS" "" "0000540393" "0" "50" "10" "69926210" "69926210" "subst" "0" "02327" "MYPN_000231" "g.69926210A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166453A>G" "" "VUS" "" "0000540395" "0" "30" "10" "69926240" "69926240" "subst" "0.000389952" "02327" "MYPN_000100" "g.69926240G>A" "" "" "" "MYPN(NM_001256268.1):c.908G>A (p.R303H), MYPN(NM_032578.3):c.1790G>A (p.R597H), MYPN(NM_032578.4):c.1790G>A (p.R597H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166483G>A" "" "likely benign" "" "0000540396" "0" "50" "10" "69926280" "69926280" "subst" "4.06177E-6" "02330" "MYPN_000233" "g.69926280A>C" "" "" "" "MYPN(NM_032578.4):c.1830A>C (p.E610D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166523A>C" "" "VUS" "" "0000540397" "0" "30" "10" "69926289" "69926289" "subst" "4.06187E-6" "02327" "MYPN_000234" "g.69926289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166532C>T" "" "likely benign" "" "0000540398" "0" "30" "10" "69926290" "69926290" "subst" "9.74825E-5" "02326" "MYPN_000041" "g.69926290G>A" "" "" "" "MYPN(NM_032578.3):c.1840G>A (p.E614K), MYPN(NM_032578.4):c.1840G>A (p.E614K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166533G>A" "" "likely benign" "" "0000540399" "0" "10" "10" "69926319" "69926319" "subst" "0.165836" "02327" "MYPN_000015" "g.69926319C>A" "" "" "" "MYPN(NM_001256268.2):c.987C>A (p.T329=), MYPN(NM_032578.4):c.1869C>A (p.T623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166562C>A" "" "benign" "" "0000540400" "0" "50" "10" "69926356" "69926356" "subst" "0" "02330" "MYPN_000235" "g.69926356G>A" "" "" "" "MYPN(NM_032578.4):c.1906G>A (p.A636T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166599G>A" "" "VUS" "" "0000540401" "0" "10" "10" "69926385" "69926385" "subst" "0.000590261" "02327" "MYPN_000017" "g.69926385C>T" "" "" "" "MYPN(NM_001256268.2):c.1053C>T (p.P351=), MYPN(NM_032578.3):c.1935C>T (p.P645=), MYPN(NM_032578.4):c.1935C>T (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166628C>T" "" "benign" "" "0000540402" "0" "10" "10" "69926385" "69926385" "subst" "0.000590261" "02326" "MYPN_000017" "g.69926385C>T" "" "" "" "MYPN(NM_001256268.2):c.1053C>T (p.P351=), MYPN(NM_032578.3):c.1935C>T (p.P645=), MYPN(NM_032578.4):c.1935C>T (p.P645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166628C>T" "" "benign" "" "0000540403" "0" "50" "10" "69926386" "69926386" "subst" "4.07163E-5" "02327" "MYPN_000236" "g.69926386G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166629G>A" "" "VUS" "" "0000540404" "0" "30" "10" "69926394" "69926394" "subst" "0.000256929" "02327" "MYPN_000107" "g.69926394G>A" "" "" "" "MYPN(NM_032578.3):c.1944G>A (p.E648=), MYPN(NM_032578.4):c.1944G>A (p.E648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166637G>A" "" "likely benign" "" "0000540405" "0" "10" "10" "69933921" "69933921" "subst" "0.432927" "02327" "MYPN_000009" "g.69933921G>A" "" "" "" "MYPN(NM_001256268.2):c.1190G>A (p.S397N), MYPN(NM_032578.4):c.2072G>A (p.S691N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174164G>A" "" "benign" "" "0000540406" "0" "30" "10" "69933928" "69933928" "subst" "0" "02327" "MYPN_000237" "g.69933928T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174171T>A" "" "likely benign" "" "0000540407" "0" "10" "10" "69934012" "69934012" "subst" "0.0214852" "02327" "MYPN_000018" "g.69934012C>A" "" "" "" "MYPN(NM_001256268.2):c.1281C>A (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174255C>A" "" "benign" "" "0000540408" "0" "30" "10" "69934039" "69934039" "subst" "5.28116E-5" "02326" "MYPN_000019" "g.69934039G>A" "" "" "" "MYPN(NM_032578.3):c.2190G>A (p.T730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174282G>A" "" "likely benign" "" "0000540409" "0" "30" "10" "69934049" "69934049" "subst" "0" "02327" "MYPN_000238" "g.69934049G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174292G>A" "" "likely benign" "" "0000540410" "0" "30" "10" "69934077" "69934077" "subst" "0.000158494" "02327" "MYPN_000115" "g.69934077C>T" "" "" "" "MYPN(NM_032578.4):c.2228C>T (p.P743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174320C>T" "" "likely benign" "" "0000540411" "0" "30" "10" "69934078" "69934078" "subst" "4.47074E-5" "01943" "MYPN_000116" "g.69934078G>A" "" "" "" "MYPN(NM_001256268.1):c.1347G>A (p.P449=), MYPN(NM_032578.4):c.2229G>A (p.P743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174321G>A" "" "likely benign" "" "0000540412" "0" "50" "10" "69934151" "69934151" "subst" "4.06666E-6" "02326" "MYPN_000239" "g.69934151C>T" "" "" "" "MYPN(NM_032578.3):c.2302C>T (p.P768S), MYPN(NM_032578.4):c.2302C>T (p.P768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174394C>T" "" "VUS" "" "0000540413" "0" "30" "10" "69934238" "69934238" "subst" "2.03358E-5" "02327" "MYPN_000240" "g.69934238T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174481T>C" "" "likely benign" "" "0000540414" "0" "10" "10" "69934258" "69934258" "subst" "0.520294" "02327" "MYPN_000020" "g.69934258C>G" "" "" "" "MYPN(NM_001256268.2):c.1527C>G (p.S509R), MYPN(NM_032578.4):c.2409C>G (p.S803R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174501C>G" "" "benign" "" "0000540415" "0" "30" "10" "69934259" "69934259" "subst" "0.018361" "01804" "MYPN_000021" "g.69934259G>A" "" "" "" "MYPN(NM_032578.3):c.2410G>A (p.G804R), MYPN(NM_032578.4):c.2410G>A (p.G804R, p.(Gly804Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174502G>A" "" "likely benign" "" "0000540416" "0" "10" "10" "69934259" "69934259" "subst" "0.018361" "02327" "MYPN_000021" "g.69934259G>A" "" "" "" "MYPN(NM_032578.3):c.2410G>A (p.G804R), MYPN(NM_032578.4):c.2410G>A (p.G804R, p.(Gly804Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174502G>A" "" "benign" "" "0000540417" "0" "10" "10" "69934296" "69934296" "subst" "0.00267886" "02327" "MYPN_000121" "g.69934296C>T" "" "" "" "MYPN(NM_032578.3):c.2447C>T (p.P816L), MYPN(NM_032578.4):c.2447C>T (p.P816L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174539C>T" "" "benign" "" "0000540418" "0" "30" "10" "69934300" "69934300" "subst" "4.06501E-6" "02327" "MYPN_000241" "g.69934300C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174543C>T" "" "likely benign" "" "0000540419" "0" "50" "10" "69934317" "69934317" "subst" "0" "02330" "MYPN_000242" "g.69934317T>C" "" "" "" "MYPN(NM_032578.4):c.2468T>C (p.I823T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174560T>C" "" "VUS" "" "0000540420" "0" "30" "10" "69934412" "69934412" "subst" "0" "02327" "MYPN_000243" "g.69934412A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174655A>C" "" "likely benign" "" "0000540421" "0" "10" "10" "69935059" "69935059" "subst" "0.65867" "02327" "MYPN_000055" "g.69935059A>G" "" "" "" "MYPN(NM_032578.3):c.2565-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175302A>G" "" "benign" "" "0000540422" "0" "30" "10" "69935072" "69935072" "subst" "0" "02326" "MYPN_000244" "g.69935072T>A" "" "" "" "MYPN(NM_032578.3):c.2565-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175315T>A" "" "likely benign" "" "0000540423" "0" "50" "10" "69935157" "69935157" "subst" "4.87615E-5" "02330" "MYPN_000022" "g.69935157A>T" "" "" "" "MYPN(NM_001256268.2):c.1760A>T (p.N587I), MYPN(NM_032578.3):c.2642A>T (p.N881I), MYPN(NM_032578.4):c.2642A>T (p.N881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175400A>T" "" "VUS" "" "0000540424" "0" "50" "10" "69935157" "69935157" "subst" "4.87615E-5" "01943" "MYPN_000022" "g.69935157A>T" "" "" "" "MYPN(NM_001256268.2):c.1760A>T (p.N587I), MYPN(NM_032578.3):c.2642A>T (p.N881I), MYPN(NM_032578.4):c.2642A>T (p.N881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175400A>T" "" "VUS" "" "0000540425" "0" "30" "10" "69935157" "69935157" "subst" "4.87615E-5" "02325" "MYPN_000022" "g.69935157A>T" "" "" "" "MYPN(NM_001256268.2):c.1760A>T (p.N587I), MYPN(NM_032578.3):c.2642A>T (p.N881I), MYPN(NM_032578.4):c.2642A>T (p.N881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175400A>T" "" "likely benign" "" "0000540427" "0" "30" "10" "69948644" "69948644" "subst" "0" "02326" "MYPN_000245" "g.69948644C>T" "" "" "" "MYPN(NM_032578.3):c.2704-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68188887C>T" "" "likely benign" "" "0000540428" "0" "50" "10" "69948684" "69948684" "subst" "0" "02327" "MYPN_000132" "g.69948684A>C" "" "" "" "MYPN(NM_001256268.2):c.1844A>C (p.E615A), MYPN(NM_032578.4):c.2726A>C (p.E909A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68188927A>C" "" "VUS" "" "0000540429" "0" "30" "10" "69948695" "69948695" "subst" "0" "02327" "MYPN_000246" "g.69948695A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68188938A>C" "" "likely benign" "" "0000540430" "0" "50" "10" "69948714" "69948714" "subst" "6.92008E-5" "02330" "MYPN_000247" "g.69948714G>A" "" "" "" "MYPN(NM_032578.4):c.2756G>A (p.R919H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68188957G>A" "" "VUS" "" "0000540432" "0" "50" "10" "69948749" "69948749" "subst" "0" "01943" "MYPN_000248" "g.69948749G>A" "" "" "" "MYPN(NM_001256268.1):c.1909G>A (p.E637K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68188992G>A" "" "VUS" "" "0000540433" "0" "30" "10" "69948821" "69948821" "subst" "0.000472232" "02330" "MYPN_000049" "g.69948821C>T" "" "" "" "MYPN(NM_032578.3):c.2863C>T (p.R955W), MYPN(NM_032578.4):c.2863C>T (p.R955W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189064C>T" "" "likely benign" "" "0000540434" "0" "50" "10" "69948821" "69948821" "subst" "0.000472232" "01943" "MYPN_000049" "g.69948821C>T" "" "" "" "MYPN(NM_032578.3):c.2863C>T (p.R955W), MYPN(NM_032578.4):c.2863C>T (p.R955W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189064C>T" "" "VUS" "" "0000540435" "0" "50" "10" "69948821" "69948821" "subst" "0.000472232" "02325" "MYPN_000049" "g.69948821C>T" "" "" "" "MYPN(NM_032578.3):c.2863C>T (p.R955W), MYPN(NM_032578.4):c.2863C>T (p.R955W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189064C>T" "" "VUS" "" "0000540436" "0" "30" "10" "69948821" "69948821" "subst" "0.000472232" "02326" "MYPN_000049" "g.69948821C>T" "" "" "" "MYPN(NM_032578.3):c.2863C>T (p.R955W), MYPN(NM_032578.4):c.2863C>T (p.R955W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189064C>T" "" "likely benign" "" "0000540437" "0" "50" "10" "69948822" "69948822" "subst" "6.1068E-5" "01943" "MYPN_000043" "g.69948822G>A" "" "" "" "MYPN(NM_001256268.1):c.1982G>A (p.R661Q), MYPN(NM_001256268.2):c.1982G>A (p.R661Q), MYPN(NM_032578.3):c.2864G>A (p.(Arg955Gln), p.R955Q), MYPN(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189065G>A" "" "VUS" "" "0000540438" "0" "30" "10" "69948838" "69948838" "subst" "0.000268798" "02326" "MYPN_000134" "g.69948838T>G" "" "" "" "MYPN(NM_001256268.2):c.1998T>G (p.S666=), MYPN(NM_032578.3):c.2880T>G (p.S960=), MYPN(NM_032578.4):c.2880T>G (p.S960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189081T>G" "" "likely benign" "" "0000540439" "0" "30" "10" "69954143" "69954143" "subst" "6.10431E-5" "02327" "MYPN_000249" "g.69954143G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68194386G>A" "" "likely benign" "" "0000540440" "0" "50" "10" "69954175" "69954175" "subst" "0" "02327" "MYPN_000250" "g.69954175T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68194418T>C" "" "VUS" "" "0000540442" "0" "50" "10" "69954234" "69954234" "subst" "2.44465E-5" "02330" "MYPN_000252" "g.69954234G>A" "" "" "" "MYPN(NM_001256267.1):c.3040G>A (p.(Asp1014Asn)), MYPN(NM_032578.4):c.3040G>A (p.D1014N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68194477G>A" "" "VUS" "" "0000540443" "0" "30" "10" "69954274" "69954282" "del" "0" "02327" "MYPN_000141" "g.69954274_69954282del" "" "" "" "MYPN(NM_001256268.2):c.2193+5_2193+13delAGACGCAGG, MYPN(NM_032578.4):c.3075+5_3075+13delAGACGCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68194517_68194525del" "" "likely benign" "" "0000540444" "0" "10" "10" "69954290" "69954290" "subst" "0.436913" "02327" "MYPN_000144" "g.69954290G>A" "" "" "" "MYPN(NM_032578.3):c.3075+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68194533G>A" "" "benign" "" "0000540447" "0" "90" "10" "69955258" "69955258" "del" "0" "02326" "MYPN_000253" "g.69955258del" "" "" "" "MYPN(NM_032578.3):c.3127delA (p.S1043Vfs*3), MYPN(NM_032578.4):c.3127delA (p.S1043Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68195501del" "" "pathogenic" "" "0000540448" "0" "50" "10" "69957110" "69957110" "subst" "4.06359E-6" "01943" "MYPN_000254" "g.69957110G>A" "" "" "" "MYPN(NM_001256268.1):c.2278G>A (p.G760R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68197353G>A" "" "VUS" "" "0000540449" "0" "50" "10" "69957135" "69957135" "subst" "0" "02327" "MYPN_000255" "g.69957135A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68197378A>T" "" "VUS" "" "0000540450" "0" "10" "10" "69957229" "69957229" "subst" "0.00286805" "02327" "MYPN_000149" "g.69957229C>T" "" "" "" "MYPN(NM_032578.3):c.3279C>T (p.D1093=), MYPN(NM_032578.4):c.3279C>T (p.D1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68197472C>T" "" "benign" "" "0000540451" "0" "50" "10" "69959153" "69959153" "subst" "3.65818E-5" "02330" "MYPN_000256" "g.69959153C>T" "" "" "" "MYPN(NM_032578.4):c.3314C>T (p.T1105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199396C>T" "" "VUS" "" "0000540452" "0" "10" "10" "69959174" "69959174" "subst" "0.00319439" "02330" "MYPN_000003" "g.69959174C>T" "" "" "" "MYPN(NM_001256267.1):c.3335C>T (p.P1112L), MYPN(NM_001256268.2):c.2453C>T (p.P818L), MYPN(NM_032578.3):c.3335C>T (p.P1112L), MYPN(NM_032578.4):c.33..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199417C>T" "" "benign" "" "0000540453" "0" "30" "10" "69959174" "69959174" "subst" "0.00319439" "01943" "MYPN_000003" "g.69959174C>T" "" "" "" "MYPN(NM_001256267.1):c.3335C>T (p.P1112L), MYPN(NM_001256268.2):c.2453C>T (p.P818L), MYPN(NM_032578.3):c.3335C>T (p.P1112L), MYPN(NM_032578.4):c.33..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199417C>T" "" "likely benign" "" "0000540455" "0" "30" "10" "69959174" "69959174" "subst" "0.00319439" "02325" "MYPN_000003" "g.69959174C>T" "" "" "" "MYPN(NM_001256267.1):c.3335C>T (p.P1112L), MYPN(NM_001256268.2):c.2453C>T (p.P818L), MYPN(NM_032578.3):c.3335C>T (p.P1112L), MYPN(NM_032578.4):c.33..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199417C>T" "" "likely benign" "" "0000540456" "0" "30" "10" "69959174" "69959174" "subst" "0.00319439" "02326" "MYPN_000003" "g.69959174C>T" "" "" "" "MYPN(NM_001256267.1):c.3335C>T (p.P1112L), MYPN(NM_001256268.2):c.2453C>T (p.P818L), MYPN(NM_032578.3):c.3335C>T (p.P1112L), MYPN(NM_032578.4):c.33..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199417C>T" "" "likely benign" "" "0000540457" "0" "50" "10" "69959218" "69959218" "subst" "6.09459E-5" "01943" "MYPN_000257" "g.69959218G>A" "" "" "" "MYPN(NM_001256268.1):c.2497G>A (p.G833R), MYPN(NM_001256268.2):c.2497G>A (p.G833R), MYPN(NM_032578.4):c.3379G>A (p.G1127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199461G>A" "" "VUS" "" "0000540458" "0" "10" "10" "69959242" "69959242" "subst" "0.433702" "02327" "MYPN_000012" "g.69959242C>A" "" "" "" "MYPN(NM_001256268.1):c.2521C>A (p.P841T), MYPN(NM_001256268.2):c.2521C>A (p.P841T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199485C>A" "" "benign" "" "0000540459" "0" "30" "10" "69959259" "69959259" "subst" "1.21843E-5" "02327" "MYPN_000156" "g.69959259C>T" "" "" "" "MYPN(NM_001256268.2):c.2538C>T (p.D846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199502C>T" "" "likely benign" "" "0000540460" "0" "50" "10" "69959279" "69959279" "subst" "6.09216E-5" "02330" "MYPN_000258" "g.69959279T>A" "" "" "" "MYPN(NM_032578.4):c.3440T>A (p.I1147N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199522T>A" "" "VUS" "" "0000540462" "0" "30" "10" "69959295" "69959295" "subst" "0.000694602" "01943" "MYPN_000260" "g.69959295C>T" "" "" "" "MYPN(NM_001256268.1):c.2574C>T (p.T858=), MYPN(NM_032578.4):c.3456C>T (p.T1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199538C>T" "" "likely benign" "" "0000540463" "0" "10" "10" "69959320" "69959320" "subst" "0.00375212" "02330" "MYPN_000031" "g.69959320C>A" "" "" "" "MYPN(NM_032578.3):c.3481C>A (p.L1161I), MYPN(NM_032578.4):c.3481C>A (p.L1161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199563C>A" "" "benign" "" "0000540464" "0" "30" "10" "69959320" "69959320" "subst" "0.00375212" "02327" "MYPN_000031" "g.69959320C>A" "" "" "" "MYPN(NM_032578.3):c.3481C>A (p.L1161I), MYPN(NM_032578.4):c.3481C>A (p.L1161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199563C>A" "" "likely benign" "" "0000540465" "0" "30" "10" "69961656" "69961656" "subst" "2.84766E-5" "01943" "MYPN_000164" "g.69961656C>T" "" "" "" "MYPN(NM_001256268.1):c.2682C>T (p.P894=), MYPN(NM_032578.4):c.3564C>T (p.P1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68201899C>T" "" "likely benign" "" "0000540466" "0" "30" "10" "69961675" "69961675" "subst" "0.000252217" "02326" "MYPN_000004" "g.69961675G>A" "" "" "" "MYPN(NM_032578.3):c.3583G>A (p.V1195M), MYPN(NM_032578.4):c.3583G>A (p.V1195M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68201918G>A" "" "likely benign" "" "0000540467" "0" "30" "10" "69961759" "69961759" "subst" "0" "01943" "MYPN_000166" "g.69961759A>G" "" "" "" "MYPN(NM_001256268.1):c.2777+8A>G, MYPN(NM_032578.3):c.3659+8A>G, MYPN(NM_032578.4):c.3659+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68202002A>G" "" "likely benign" "" "0000540468" "0" "30" "10" "69961759" "69961759" "subst" "0" "02327" "MYPN_000166" "g.69961759A>G" "" "" "" "MYPN(NM_001256268.1):c.2777+8A>G, MYPN(NM_032578.3):c.3659+8A>G, MYPN(NM_032578.4):c.3659+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68202002A>G" "" "likely benign" "" "0000540469" "0" "30" "10" "69966508" "69966508" "subst" "0" "02327" "MYPN_000261" "g.69966508A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206751A>T" "" "likely benign" "" "0000540470" "0" "10" "10" "69966578" "69966578" "subst" "8.12684E-6" "02330" "MYPN_000168" "g.69966578G>A" "" "" "" "MYPN(NM_001256268.2):c.2829G>A (p.K943=), MYPN(NM_032578.3):c.3711G>A (p.K1237=), MYPN(NM_032578.4):c.3711G>A (p.K1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206821G>A" "" "benign" "" "0000540471" "0" "30" "10" "69966578" "69966578" "subst" "8.12684E-6" "01943" "MYPN_000168" "g.69966578G>A" "" "" "" "MYPN(NM_001256268.2):c.2829G>A (p.K943=), MYPN(NM_032578.3):c.3711G>A (p.K1237=), MYPN(NM_032578.4):c.3711G>A (p.K1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206821G>A" "" "likely benign" "" "0000540472" "0" "30" "10" "69966578" "69966578" "subst" "8.12684E-6" "02327" "MYPN_000168" "g.69966578G>A" "" "" "" "MYPN(NM_001256268.2):c.2829G>A (p.K943=), MYPN(NM_032578.3):c.3711G>A (p.K1237=), MYPN(NM_032578.4):c.3711G>A (p.K1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206821G>A" "" "likely benign" "" "0000540473" "0" "10" "10" "69966587" "69966587" "subst" "4.06359E-5" "02330" "MYPN_000262" "g.69966587C>T" "" "" "" "MYPN(NM_001256268.1):c.2838C>T (p.D946=), MYPN(NM_001256268.2):c.2838C>T (p.D946=), MYPN(NM_032578.3):c.3720C>T (p.D1240=), MYPN(NM_032578.4):c.372..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206830C>T" "" "benign" "" "0000540474" "0" "30" "10" "69966587" "69966587" "subst" "4.06359E-5" "01943" "MYPN_000262" "g.69966587C>T" "" "" "" "MYPN(NM_001256268.1):c.2838C>T (p.D946=), MYPN(NM_001256268.2):c.2838C>T (p.D946=), MYPN(NM_032578.3):c.3720C>T (p.D1240=), MYPN(NM_032578.4):c.372..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206830C>T" "" "likely benign" "" "0000540475" "0" "30" "10" "69966587" "69966587" "subst" "4.06359E-5" "02327" "MYPN_000262" "g.69966587C>T" "" "" "" "MYPN(NM_001256268.1):c.2838C>T (p.D946=), MYPN(NM_001256268.2):c.2838C>T (p.D946=), MYPN(NM_032578.3):c.3720C>T (p.D1240=), MYPN(NM_032578.4):c.372..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206830C>T" "" "likely benign" "" "0000540476" "0" "30" "10" "69966587" "69966587" "subst" "4.06359E-5" "02325" "MYPN_000262" "g.69966587C>T" "" "" "" "MYPN(NM_001256268.1):c.2838C>T (p.D946=), MYPN(NM_001256268.2):c.2838C>T (p.D946=), MYPN(NM_032578.3):c.3720C>T (p.D1240=), MYPN(NM_032578.4):c.372..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206830C>T" "" "likely benign" "" "0000540477" "0" "30" "10" "69966587" "69966587" "subst" "4.06359E-5" "02326" "MYPN_000262" "g.69966587C>T" "" "" "" "MYPN(NM_001256268.1):c.2838C>T (p.D946=), MYPN(NM_001256268.2):c.2838C>T (p.D946=), MYPN(NM_032578.3):c.3720C>T (p.D1240=), MYPN(NM_032578.4):c.372..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206830C>T" "" "likely benign" "" "0000540478" "0" "50" "10" "69966605" "69966605" "subst" "0" "02330" "MYPN_000263" "g.69966605G>C" "" "" "" "MYPN(NM_032578.4):c.3738G>C (p.L1246F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206848G>C" "" "VUS" "" "0000540479" "0" "30" "10" "69966659" "69966659" "subst" "0.00028894" "02326" "MYPN_000173" "g.69966659C>T" "" "" "" "MYPN(NM_001256267.1):c.3792C>T (p.(Tyr1264=)), MYPN(NM_001256268.2):c.2910C>T (p.Y970=), MYPN(NM_032578.3):c.3792C>T (p.Y1264=), MYPN(NM_032578.4):..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206902C>T" "" "likely benign" "" "0000540480" "0" "30" "10" "69966664" "69966664" "subst" "1.22118E-5" "02330" "MYPN_000264" "g.69966664A>G" "" "" "" "MYPN(NM_032578.4):c.3793+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206907A>G" "" "likely benign" "" "0000540481" "0" "30" "10" "69970082" "69970082" "subst" "0.000438707" "02330" "MYPN_000265" "g.69970082G>A" "" "" "" "MYPN(NM_032578.3):c.3833G>A (p.R1278Q), MYPN(NM_032578.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210325G>A" "" "likely benign" "" "0000540483" "0" "50" "10" "69970082" "69970082" "subst" "0.000438707" "02325" "MYPN_000265" "g.69970082G>A" "" "" "" "MYPN(NM_032578.3):c.3833G>A (p.R1278Q), MYPN(NM_032578.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210325G>A" "" "VUS" "" "0000540484" "0" "30" "10" "69970082" "69970082" "subst" "0.000438707" "02326" "MYPN_000265" "g.69970082G>A" "" "" "" "MYPN(NM_032578.3):c.3833G>A (p.R1278Q), MYPN(NM_032578.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210325G>A" "" "likely benign" "" "0000540485" "0" "10" "10" "69970095" "69970095" "subst" "0.000467104" "02330" "MYPN_000266" "g.69970095T>A" "" "" "" "MYPN(NM_032578.3):c.3846T>A (p.S1282R), MYPN(NM_032578.4):c.3846T>A (p.S1282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210338T>A" "" "benign" "" "0000540486" "0" "50" "10" "69970095" "69970095" "subst" "0.000467104" "01943" "MYPN_000266" "g.69970095T>A" "" "" "" "MYPN(NM_032578.3):c.3846T>A (p.S1282R), MYPN(NM_032578.4):c.3846T>A (p.S1282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210338T>A" "" "VUS" "" "0000540487" "0" "30" "10" "69970095" "69970095" "subst" "0.000467104" "02327" "MYPN_000266" "g.69970095T>A" "" "" "" "MYPN(NM_032578.3):c.3846T>A (p.S1282R), MYPN(NM_032578.4):c.3846T>A (p.S1282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210338T>A" "" "likely benign" "" "0000540488" "0" "10" "10" "69970095" "69970095" "subst" "0.000467104" "02326" "MYPN_000266" "g.69970095T>A" "" "" "" "MYPN(NM_032578.3):c.3846T>A (p.S1282R), MYPN(NM_032578.4):c.3846T>A (p.S1282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210338T>A" "" "benign" "" "0000540489" "0" "50" "10" "69970097" "69970097" "subst" "4.06223E-5" "02327" "MYPN_000267" "g.69970097G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210340G>A" "" "VUS" "" "0000540490" "0" "50" "10" "69970160" "69970160" "subst" "2.03075E-5" "02327" "MYPN_000268" "g.69970160C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210403C>T" "" "VUS" "" "0000540491" "0" "50" "10" "69970183" "69970183" "subst" "0.000239656" "01943" "MYPN_000176" "g.69970183C>T" "" "" "" "MYPN(NM_001256268.1):c.3052C>T (p.R1018W), MYPN(NM_032578.3):c.3934C>T (p.R1312W), MYPN(NM_032578.4):c.3934C>T (p.R1312W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210426C>T" "" "VUS" "" "0000540492" "0" "30" "10" "69970504" "69970504" "subst" "0" "02327" "MYPN_000269" "g.69970504C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210747C>T" "" "likely benign" "" "0000540493" "0" "30" "10" "69970556" "69970556" "subst" "0.00300255" "02327" "MYPN_000270" "g.69970556G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210799G>A" "" "likely benign" "" "0000540494" "0" "50" "10" "69970996" "69970996" "subst" "3.18451E-5" "02327" "MYPN_000271" "g.69970996G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68211239G>A" "" "VUS" "" "0000540495" "0" "50" "10" "69971027" "69971027" "subst" "0.0001035" "02327" "MYPN_000272" "g.69971027C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68211270C>T" "" "VUS" "" "0000612546" "0" "50" "10" "69881254" "69881254" "subst" "0.000950617" "02327" "MYPN_000023" "g.69881254A>G" "" "" "" "MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121497A>G" "" "VUS" "" "0000612547" "0" "30" "10" "69881335" "69881335" "subst" "6.09647E-5" "01804" "MYPN_000070" "g.69881335C>T" "" "" "" "MYPN(NM_001256267.1):c.140C>T (p.(Pro47Leu)), MYPN(NM_032578.4):c.140C>T (p.P47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121578C>T" "" "likely benign" "" "0000612548" "0" "30" "10" "69881660" "69881660" "subst" "1.62571E-5" "01943" "MYPN_000211" "g.69881660C>A" "" "" "" "MYPN(NM_032578.3):c.465C>A (p.A155=), MYPN(NM_032578.4):c.465C>A (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121903C>A" "" "likely benign" "" "0000612549" "0" "30" "10" "69881895" "69881895" "subst" "0" "02327" "MYPN_000274" "g.69881895A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122138A>G" "" "likely benign" "" "0000612550" "0" "50" "10" "69882003" "69882003" "subst" "0" "02327" "MYPN_000275" "g.69882003C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122246C>T" "" "VUS" "" "0000612551" "0" "10" "10" "69882038" "69882038" "subst" "0.00886226" "02327" "MYPN_000038" "g.69882038A>G" "" "" "" "MYPN(NM_032578.3):c.843A>G (p.P281=), MYPN(NM_032578.4):c.843A>G (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122281A>G" "" "benign" "" "0000612552" "0" "10" "10" "69905257" "69905257" "subst" "0.00154979" "02327" "MYPN_000048" "g.69905257C>T" "" "" "" "MYPN(NM_001256268.2):c.222C>T (p.G74=), MYPN(NM_032578.3):c.1104C>T (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68145500C>T" "" "benign" "" "0000612553" "0" "50" "10" "69918270" "69918270" "subst" "4.06451E-6" "02327" "MYPN_000276" "g.69918270G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158513G>T" "" "VUS" "" "0000612554" "0" "10" "10" "69918324" "69918324" "subst" "0.0107159" "02327" "MYPN_000039" "g.69918324G>A" "" "" "" "MYPN(NM_001256267.1):c.1399G>A (p.(Glu467Lys)), MYPN(NM_032578.3):c.1399G>A (p.E467K), MYPN(NM_032578.4):c.1399G>A (p.E467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158567G>A" "" "benign" "" "0000612555" "0" "50" "10" "69921495" "69921495" "subst" "8.14206E-6" "02327" "MYPN_000277" "g.69921495C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68161738C>G" "" "VUS" "" "0000612556" "0" "10" "10" "69925538" "69925538" "subst" "0.00055886" "02330" "MYPN_000094" "g.69925538C>T" "" "" "" "MYPN(NM_032578.3):c.1563C>T (p.Y521=), MYPN(NM_032578.4):c.1563C>T (p.Y521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68165781C>T" "" "benign" "" "0000612557" "0" "10" "10" "69925538" "69925538" "subst" "0.00055886" "02327" "MYPN_000094" "g.69925538C>T" "" "" "" "MYPN(NM_032578.3):c.1563C>T (p.Y521=), MYPN(NM_032578.4):c.1563C>T (p.Y521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68165781C>T" "" "benign" "" "0000612558" "0" "30" "10" "69926349" "69926349" "subst" "2.03146E-5" "02327" "MYPN_000105" "g.69926349C>T" "" "" "" "MYPN(NM_032578.3):c.1899C>T (p.N633=), MYPN(NM_032578.4):c.1899C>T (p.N633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166592C>T" "" "likely benign" "" "0000612559" "0" "30" "10" "69933941" "69933941" "subst" "0" "02327" "MYPN_000278" "g.69933941A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174184A>G" "" "likely benign" "" "0000612560" "0" "50" "10" "69934020" "69934020" "subst" "0" "02325" "MYPN_000279" "g.69934020A>T" "" "" "" "MYPN(NM_001256268.2):c.1289A>T (p.K430M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174263A>T" "" "VUS" "" "0000612561" "0" "50" "10" "69934077" "69934077" "subst" "1.21919E-5" "01943" "MYPN_000114" "g.69934077C>A" "" "" "" "MYPN(NM_032578.3):c.2228C>A (p.P743Q), MYPN(NM_032578.4):c.2228C>A (p.P743Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174320C>A" "" "VUS" "" "0000612562" "0" "50" "10" "69934143" "69934143" "subst" "8.13279E-6" "02330" "MYPN_000280" "g.69934143T>G" "" "" "" "MYPN(NM_032578.4):c.2294T>G (p.V765G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174386T>G" "" "VUS" "" "0000612563" "0" "30" "10" "69935072" "69935072" "subst" "0" "02327" "MYPN_000244" "g.69935072T>A" "" "" "" "MYPN(NM_032578.3):c.2565-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175315T>A" "" "likely benign" "" "0000612564" "0" "30" "10" "69935097" "69935097" "subst" "1.6259E-5" "02327" "MYPN_000281" "g.69935097C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175340C>T" "" "likely benign" "" "0000612565" "0" "50" "10" "69935157" "69935157" "subst" "4.87615E-5" "02327" "MYPN_000022" "g.69935157A>T" "" "" "" "MYPN(NM_001256268.2):c.1760A>T (p.N587I), MYPN(NM_032578.3):c.2642A>T (p.N881I), MYPN(NM_032578.4):c.2642A>T (p.N881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68175400A>T" "" "VUS" "" "0000612566" "0" "30" "10" "69948821" "69948821" "subst" "0.000472232" "02327" "MYPN_000049" "g.69948821C>T" "" "" "" "MYPN(NM_032578.3):c.2863C>T (p.R955W), MYPN(NM_032578.4):c.2863C>T (p.R955W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189064C>T" "" "likely benign" "" "0000612567" "0" "50" "10" "69948822" "69948822" "subst" "6.1068E-5" "02326" "MYPN_000043" "g.69948822G>A" "" "" "" "MYPN(NM_001256268.1):c.1982G>A (p.R661Q), MYPN(NM_001256268.2):c.1982G>A (p.R661Q), MYPN(NM_032578.3):c.2864G>A (p.(Arg955Gln), p.R955Q), MYPN(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189065G>A" "" "VUS" "" "0000612568" "0" "30" "10" "69948835" "69948835" "subst" "0.000122173" "01943" "MYPN_000282" "g.69948835C>T" "" "" "" "MYPN(NM_032578.3):c.2877C>T (p.G959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68189078C>T" "" "likely benign" "" "0000612569" "0" "30" "10" "69955204" "69955204" "subst" "8.12506E-6" "01804" "MYPN_000283" "g.69955204C>T" "" "" "" "MYPN(NM_001256267.1):c.3076-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68195447C>T" "" "likely benign" "" "0000612570" "0" "10" "10" "69955209" "69955209" "subst" "0.000881533" "02327" "MYPN_000145" "g.69955209G>A" "" "" "" "MYPN(NM_032578.3):c.3078G>A (p.G1026=), MYPN(NM_032578.4):c.3078G>A (p.G1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68195452G>A" "" "benign" "" "0000612571" "0" "50" "10" "69955226" "69955226" "subst" "8.12401E-6" "01804" "MYPN_000284" "g.69955226G>T" "" "" "" "MYPN(NM_001256267.1):c.3095G>T (p.(Gly1032Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68195469G>T" "" "VUS" "" "0000612572" "0" "30" "10" "69955253" "69955253" "subst" "0.000150289" "02326" "MYPN_000285" "g.69955253T>A" "" "" "" "MYPN(NM_032578.3):c.3122T>A (p.I1041N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68195496T>A" "" "likely benign" "" "0000612574" "0" "50" "10" "69957164" "69957164" "subst" "4.06296E-6" "02327" "MYPN_000287" "g.69957164C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68197407C>T" "" "VUS" "" "0000612575" "0" "10" "10" "69959174" "69959174" "subst" "0.00319439" "02327" "MYPN_000003" "g.69959174C>T" "" "" "" "MYPN(NM_001256267.1):c.3335C>T (p.P1112L), MYPN(NM_001256268.2):c.2453C>T (p.P818L), MYPN(NM_032578.3):c.3335C>T (p.P1112L), MYPN(NM_032578.4):c.33..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199417C>T" "" "benign" "" "0000612576" "0" "30" "10" "69959218" "69959218" "subst" "6.09459E-5" "02325" "MYPN_000257" "g.69959218G>A" "" "" "" "MYPN(NM_001256268.1):c.2497G>A (p.G833R), MYPN(NM_001256268.2):c.2497G>A (p.G833R), MYPN(NM_032578.4):c.3379G>A (p.G1127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199461G>A" "" "likely benign" "" "0000612577" "0" "30" "10" "69959244" "69959244" "subst" "0" "02330" "MYPN_000154" "g.69959244A>T" "" "" "" "MYPN(NM_001256268.2):c.2523A>T (p.P841=), MYPN(NM_032578.4):c.3405A>T (p.P1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199487A>T" "" "likely benign" "" "0000612578" "0" "30" "10" "69959338" "69959338" "subst" "5.07516E-6" "01943" "MYPN_000159" "g.69959338G>A" "" "" "" "MYPN(NM_032578.3):c.3493+6G>A, MYPN(NM_032578.4):c.3493+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199581G>A" "" "likely benign" "" "0000612579" "0" "30" "10" "69966602" "69966602" "subst" "2.84486E-5" "02327" "MYPN_000290" "g.69966602G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206845G>A" "" "likely benign" "" "0000612580" "0" "30" "10" "69970038" "69970038" "dup" "0" "02327" "MYPN_000291" "g.69970038dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210281dup" "" "likely benign" "" "0000612581" "0" "50" "10" "69970081" "69970081" "subst" "1.2187E-5" "02325" "MYPN_000292" "g.69970081C>T" "" "" "" "MYPN(NM_001256268.2):c.2950C>T (p.R984W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210324C>T" "" "VUS" "" "0000612582" "0" "30" "10" "69970082" "69970082" "subst" "0.000438707" "02327" "MYPN_000265" "g.69970082G>A" "" "" "" "MYPN(NM_032578.3):c.3833G>A (p.R1278Q), MYPN(NM_032578.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210325G>A" "" "likely benign" "" "0000622399" "0" "50" "10" "69881278" "69881278" "subst" "0" "02330" "MYPN_000273" "g.69881278G>C" "" "" "" "MYPN(NM_032578.4):c.83G>C (p.G28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121521G>C" "" "VUS" "" "0000622400" "0" "10" "10" "69926240" "69926240" "subst" "0.000389952" "02330" "MYPN_000100" "g.69926240G>A" "" "" "" "MYPN(NM_001256268.1):c.908G>A (p.R303H), MYPN(NM_032578.3):c.1790G>A (p.R597H), MYPN(NM_032578.4):c.1790G>A (p.R597H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166483G>A" "" "benign" "" "0000622401" "0" "30" "10" "69959256" "69959256" "subst" "0.000641729" "01943" "MYPN_000288" "g.69959256C>G" "" "" "" "MYPN(NM_032578.3):c.3417C>G (p.R1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199499C>G" "" "likely benign" "" "0000622402" "0" "10" "10" "69961572" "69961572" "del" "0" "02330" "MYPN_000289" "g.69961572del" "" "" "" "MYPN(NM_032578.4):c.3494-14delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68201815del" "" "benign" "" "0000647943" "1" "10" "10" "69908157" "69908157" "subst" "0.0383388" "03575" "MYPN_000005" "g.69908157T>C" "157/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "157 heterozygous; {DB:CLININrs11596653}" "Germline" "" "rs11596653" "0" "" "" "g.68148400T>C" "" "benign" "" "0000647944" "1" "50" "10" "69921492" "69921492" "subst" "0.000101816" "03575" "MYPN_000093" "g.69921492G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141031460}" "Germline" "" "rs141031460" "0" "" "" "g.68161735G>A" "" "VUS" "" "0000647946" "1" "50" "10" "69957213" "69957213" "subst" "4.06273E-6" "03575" "MYPN_000002" "g.69957213G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs71584501}" "Germline" "" "rs71584501" "0" "" "" "g.68197456G>A" "" "VUS" "" "0000647948" "1" "50" "10" "69961675" "69961675" "subst" "0.000252217" "03575" "MYPN_000004" "g.69961675G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs71534280}" "Germline" "" "rs71534280" "0" "" "" "g.68201918G>A" "" "VUS" "" "0000652973" "1" "50" "10" "69948714" "69948714" "subst" "6.92008E-5" "03575" "MYPN_000247" "g.69948714G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193022869}" "Germline" "" "rs193022869" "0" "" "" "g.68188957G>A" "" "VUS" "" "0000656516" "0" "30" "10" "69881454" "69881454" "subst" "4.0619E-5" "01943" "MYPN_000180" "g.69881454C>G" "" "" "" "MYPN(NM_032578.3):c.259C>G (p.P87A), MYPN(NM_032578.4):c.259C>G (p.P87A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68121697C>G" "" "likely benign" "" "0000656517" "0" "30" "10" "69881855" "69881855" "subst" "0.000142226" "02326" "MYPN_000192" "g.69881855G>A" "" "" "" "MYPN(NM_032578.3):c.660G>A (p.R220=), MYPN(NM_032578.4):c.660G>A (p.R220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122098G>A" "" "likely benign" "" "0000656518" "0" "50" "10" "69881952" "69881952" "subst" "6.61781E-5" "02330" "MYPN_000195" "g.69881952G>C" "" "" "" "MYPN(NM_032578.3):c.757G>C (p.G253R), MYPN(NM_032578.4):c.757G>C (p.G253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68122195G>C" "" "VUS" "" "0000656519" "0" "50" "10" "69925539" "69925539" "subst" "4.0795E-6" "02330" "MYPN_000095" "g.69925539G>A" "" "" "" "MYPN(NM_001256268.1):c.682G>A (p.G228S), MYPN(NM_032578.4):c.1564G>A (p.G522S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68165782G>A" "" "VUS" "" "0000656520" "0" "30" "10" "69926112" "69926112" "subst" "0.000300635" "02326" "MYPN_000014" "g.69926112A>C" "" "" "" "MYPN(NM_001256268.2):c.780A>C (p.A260=), MYPN(NM_032578.3):c.1662A>C (p.A554=), MYPN(NM_032578.4):c.1662A>C (p.A554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68166355A>C" "" "likely benign" "" "0000656521" "0" "50" "10" "69933999" "69933999" "subst" "4.46715E-5" "02330" "MYPN_000293" "g.69933999C>T" "" "" "" "MYPN(NM_032578.4):c.2150C>T (p.T717M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174242C>T" "" "VUS" "" "0000656522" "0" "50" "10" "69934317" "69934317" "subst" "0" "02327" "MYPN_000242" "g.69934317T>C" "" "" "" "MYPN(NM_032578.4):c.2468T>C (p.I823T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174560T>C" "" "VUS" "" "0000656523" "0" "90" "10" "69934414" "69934414" "subst" "0" "02327" "MYPN_000124" "g.69934414G>C" "" "" "" "MYPN(NM_032578.4):c.2564+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68174657G>C" "" "pathogenic" "" "0000656524" "0" "50" "10" "69959144" "69959144" "subst" "1.21993E-5" "02330" "MYPN_000294" "g.69959144C>T" "" "" "" "MYPN(NM_032578.4):c.3305C>T (p.P1102L, p.(Pro1102Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68199387C>T" "" "VUS" "" "0000656525" "0" "50" "10" "69970162" "69970162" "subst" "4.46777E-5" "02330" "MYPN_000295" "g.69970162A>G" "" "" "" "MYPN(NM_001256268.1):c.3031A>G (p.M1011V), MYPN(NM_032578.4):c.3913A>G (p.M1305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210405A>G" "" "VUS" "" "0000669071" "3" "10" "10" "69908157" "69908157" "subst" "0.0383388" "03575" "MYPN_000005" "g.69908157T>C" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs11596653}" "Germline" "" "rs11596653" "0" "" "" "g.68148400T>C" "" "benign" "" "0000678867" "0" "10" "10" "69881997" "69881997" "subst" "0.000458171" "02330" "MYPN_000296" "g.69881997C>T" "" "" "" "MYPN(NM_032578.3):c.802C>T (p.P268S), MYPN(NM_032578.4):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678868" "0" "30" "10" "69908173" "69908173" "subst" "0" "02330" "MYPN_000297" "g.69908173A>G" "" "" "" "MYPN(NM_032578.4):c.1194A>G (p.V398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678869" "0" "50" "10" "69918243" "69918243" "subst" "0" "02326" "MYPN_000298" "g.69918243A>C" "" "" "" "MYPN(NM_032578.3):c.1318A>C (p.M440L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678870" "0" "10" "10" "69918324" "69918324" "subst" "0.0107159" "01804" "MYPN_000039" "g.69918324G>A" "" "" "" "MYPN(NM_001256267.1):c.1399G>A (p.(Glu467Lys)), MYPN(NM_032578.3):c.1399G>A (p.E467K), MYPN(NM_032578.4):c.1399G>A (p.E467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678871" "0" "30" "10" "69926172" "69926172" "subst" "4.06359E-6" "02326" "MYPN_000299" "g.69926172C>A" "" "" "" "MYPN(NM_032578.3):c.1722C>A (p.P574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678872" "0" "30" "10" "69934202" "69934202" "subst" "0" "02327" "MYPN_000300" "g.69934202C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678873" "0" "30" "10" "69934211" "69934211" "subst" "0" "02327" "MYPN_000301" "g.69934211G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678874" "0" "30" "10" "69959256" "69959256" "subst" "0.000641729" "02326" "MYPN_000288" "g.69959256C>G" "" "" "" "MYPN(NM_032578.3):c.3417C>G (p.R1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678875" "0" "30" "10" "69970162" "69970162" "subst" "4.46777E-5" "02327" "MYPN_000295" "g.69970162A>G" "" "" "" "MYPN(NM_001256268.1):c.3031A>G (p.M1011V), MYPN(NM_032578.4):c.3913A>G (p.M1305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690741" "0" "50" "10" "69896471" "69896471" "subst" "0" "01943" "MYPN_000302" "g.69896471G>A" "" "" "" "MYPN(NM_001256268.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690742" "0" "30" "10" "69933937" "69933937" "subst" "0" "01943" "MYPN_000303" "g.69933937C>T" "" "" "" "MYPN(NM_032578.3):c.2088C>T (p.N696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690743" "0" "50" "10" "69934032" "69934032" "subst" "0.00016247" "02330" "MYPN_000304" "g.69934032C>T" "" "" "" "MYPN(NM_032578.4):c.2183C>T (p.P728L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690744" "0" "50" "10" "69934258" "69934258" "subst" "1.21961E-5" "01943" "MYPN_000305" "g.69934258C>A" "" "" "" "MYPN(NM_032578.3):c.2409C>A (p.S803R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690745" "0" "50" "10" "69959138" "69959138" "subst" "0" "02325" "MYPN_000306" "g.69959138C>T" "" "" "" "MYPN(NM_032578.4):c.3299C>T (p.P1100L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690746" "0" "10" "10" "69959338" "69959338" "subst" "1.52255E-5" "02330" "MYPN_000160" "g.69959338G>T" "" "" "" "MYPN(NM_032578.3):c.3493+6G>T, MYPN(NM_032578.4):c.3493+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690747" "0" "50" "10" "69966588" "69966588" "subst" "4.06375E-6" "01943" "MYPN_000169" "g.69966588G>A" "" "" "" "MYPN(NM_001256268.2):c.2839G>A (p.A947T), MYPN(NM_032578.3):c.3721G>A (p.A1241T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690748" "0" "30" "10" "69970162" "69970162" "subst" "4.46777E-5" "02326" "MYPN_000295" "g.69970162A>G" "" "" "" "MYPN(NM_001256268.1):c.3031A>G (p.M1011V), MYPN(NM_032578.4):c.3913A>G (p.M1305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701778" "0" "50" "10" "69961675" "69961675" "subst" "0.000252217" "00006" "MYPN_000004" "g.69961675G>A" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000722873" "0" "30" "10" "69905275" "69905275" "subst" "0.000211509" "01943" "MYPN_000078" "g.69905275G>A" "" "" "" "MYPN(NM_032578.3):c.1122G>A (p.E374=), MYPN(NM_032578.4):c.1122G>A (p.E374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722874" "0" "50" "10" "69905283" "69905283" "subst" "0.000524911" "02325" "MYPN_000079" "g.69905283G>A" "" "" "" "MYPN(NM_001256268.1):c.248G>A (p.R83Q), MYPN(NM_001256268.2):c.248G>A (p.R83Q), MYPN(NM_032578.3):c.1130G>A (p.R377Q), MYPN(NM_032578.4):c.1130G>A ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722875" "0" "10" "10" "69905300" "69905300" "subst" "0.149945" "02327" "MYPN_000052" "g.69905300G>A" "" "" "" "MYPN(NM_001256268.2):c.248+17G>A, MYPN(NM_032578.3):c.1130+17G>A, MYPN(NM_032578.4):c.1130+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722876" "0" "10" "10" "69908241" "69908241" "subst" "0.0968049" "02327" "MYPN_000084" "g.69908241G>A" "" "" "" "MYPN(NM_001256268.2):c.363+17G>A, MYPN(NM_032578.3):c.1245+17G>A, MYPN(NM_032578.4):c.1245+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722877" "0" "10" "10" "69926055" "69926055" "subst" "0" "02330" "MYPN_000307" "g.69926055T>C" "" "" "" "MYPN(NM_032578.4):c.1605T>C (p.N535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722878" "0" "50" "10" "69926239" "69926239" "subst" "8.12374E-6" "02330" "MYPN_000232" "g.69926239C>T" "" "" "" "MYPN(NM_032578.4):c.1789C>T (p.R597C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722879" "0" "50" "10" "69934151" "69934151" "subst" "4.06666E-6" "02330" "MYPN_000239" "g.69934151C>T" "" "" "" "MYPN(NM_032578.3):c.2302C>T (p.P768S), MYPN(NM_032578.4):c.2302C>T (p.P768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722880" "0" "10" "10" "69935098" "69935098" "subst" "8.1285E-6" "02330" "MYPN_000308" "g.69935098G>A" "" "" "" "MYPN(NM_032578.4):c.2583G>A (p.A861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722881" "0" "50" "10" "69954223" "69954223" "subst" "0" "02329" "MYPN_000251" "g.69954223C>T" "" "" "" "MYPN(NM_032578.4):c.3029C>T (p.T1010I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722882" "0" "30" "10" "69957181" "69957181" "subst" "0" "01943" "MYPN_000309" "g.69957181G>A" "" "" "" "MYPN(NM_032578.3):c.3231G>A (p.Q1077=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722883" "0" "10" "10" "69961767" "69961767" "subst" "0" "02330" "MYPN_000310" "g.69961767C>T" "" "" "" "MYPN(NM_032578.4):c.3659+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722884" "0" "30" "10" "69966539" "69966539" "subst" "0" "01943" "MYPN_000311" "g.69966539C>T" "" "" "" "MYPN(NM_032578.3):c.3672C>T (p.D1224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722885" "0" "30" "10" "69970074" "69970074" "subst" "0" "01943" "MYPN_000312" "g.69970074G>A" "" "" "" "MYPN(NM_032578.3):c.3825G>A (p.M1275I), MYPN(NM_032578.4):c.3825G>A (p.M1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804480" "0" "30" "10" "69881256" "69881256" "subst" "0" "02326" "MYPN_000313" "g.69881256T>C" "" "" "" "MYPN(NM_032578.3):c.61T>C (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804481" "0" "70" "10" "69902700" "69902700" "subst" "0" "02327" "MYPN_000314" "g.69902700G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804482" "0" "30" "10" "69902847" "69902847" "subst" "2.44389E-5" "02326" "MYPN_000315" "g.69902847G>A" "" "" "" "MYPN(NM_032578.3):c.1053G>A (p.S351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804483" "0" "50" "10" "69905286" "69905286" "subst" "2.44087E-5" "02330" "MYPN_000316" "g.69905286A>C" "" "" "" "MYPN(NM_032578.4):c.1130+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804484" "0" "50" "10" "69921492" "69921492" "subst" "0.000101816" "02325" "MYPN_000093" "g.69921492G>A" "" "" "" "MYPN(NM_032578.4):c.1466G>A (p.R489Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804485" "0" "50" "10" "69933828" "69933828" "subst" "0" "02326" "MYPN_000317" "g.69933828C>G" "" "" "" "MYPN(NM_032578.3):c.1979C>G (p.S660C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804486" "0" "50" "10" "69934389" "69934389" "subst" "8.16707E-6" "02325" "MYPN_000318" "g.69934389G>A" "" "" "" "MYPN(NM_032578.4):c.2540G>A (p.G847E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804487" "0" "50" "10" "69935157" "69935157" "subst" "4.87615E-5" "02326" "MYPN_000022" "g.69935157A>T" "" "" "" "MYPN(NM_001256268.2):c.1760A>T (p.N587I), MYPN(NM_032578.3):c.2642A>T (p.N881I), MYPN(NM_032578.4):c.2642A>T (p.N881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804488" "0" "10" "10" "69955190" "69955190" "subst" "4.47096E-5" "02330" "MYPN_000319" "g.69955190C>T" "" "" "" "MYPN(NM_032578.4):c.3076-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804489" "0" "10" "10" "69955209" "69955209" "subst" "0.000881533" "02326" "MYPN_000145" "g.69955209G>A" "" "" "" "MYPN(NM_032578.3):c.3078G>A (p.G1026=), MYPN(NM_032578.4):c.3078G>A (p.G1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804490" "0" "50" "10" "69959159" "69959159" "subst" "0" "01943" "MYPN_000320" "g.69959159T>A" "" "" "" "MYPN(NM_032578.3):c.3320T>A (p.L1107Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804491" "0" "30" "10" "69961675" "69961675" "subst" "0.000252217" "02330" "MYPN_000004" "g.69961675G>A" "" "" "" "MYPN(NM_032578.3):c.3583G>A (p.V1195M), MYPN(NM_032578.4):c.3583G>A (p.V1195M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804492" "0" "50" "10" "69970102" "69970102" "subst" "8.12381E-6" "01943" "MYPN_000321" "g.69970102G>A" "" "" "" "MYPN(NM_032578.3):c.3853G>A (p.G1285R), MYPN(NM_032578.4):c.3853G>A (p.G1285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852526" "0" "50" "10" "69881367" "69881367" "subst" "0" "02330" "MYPN_000322" "g.69881367G>C" "" "" "" "MYPN(NM_032578.4):c.172G>C (p.D58H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852527" "0" "10" "10" "69902679" "69902679" "subst" "3.25166E-5" "02330" "MYPN_000074" "g.69902679A>T" "" "" "" "MYPN(NM_032578.3):c.903-18A>T, MYPN(NM_032578.4):c.903-18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852528" "0" "10" "10" "69905260" "69905260" "subst" "0" "02330" "MYPN_000324" "g.69905260C>T" "" "" "" "MYPN(NM_032578.4):c.1107C>T (p.D369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852529" "0" "30" "10" "69926199" "69926199" "subst" "4.06293E-6" "02330" "MYPN_000325" "g.69926199G>A" "" "" "" "MYPN(NM_032578.4):c.1749G>A (p.V583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852530" "0" "50" "10" "69954181" "69954181" "subst" "3.25728E-5" "02330" "MYPN_000326" "g.69954181G>A" "" "" "" "MYPN(NM_032578.4):c.2987G>A (p.R996Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852531" "0" "50" "10" "69970102" "69970102" "subst" "8.12381E-6" "02327" "MYPN_000321" "g.69970102G>A" "" "" "" "MYPN(NM_032578.3):c.3853G>A (p.G1285R), MYPN(NM_032578.4):c.3853G>A (p.G1285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861943" "0" "50" "10" "69902801" "69902801" "subst" "0" "02330" "MYPN_000323" "g.69902801C>T" "" "" "" "MYPN(NM_032578.4):c.1007C>T (p.T336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861944" "0" "50" "10" "69934389" "69934389" "subst" "8.16707E-6" "02330" "MYPN_000318" "g.69934389G>A" "" "" "" "MYPN(NM_032578.4):c.2540G>A (p.G847E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861945" "0" "10" "10" "69959295" "69959295" "subst" "0.000694602" "02330" "MYPN_000260" "g.69959295C>T" "" "" "" "MYPN(NM_001256268.1):c.2574C>T (p.T858=), MYPN(NM_032578.4):c.3456C>T (p.T1152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861946" "0" "30" "10" "69966659" "69966659" "subst" "0.00028894" "01804" "MYPN_000173" "g.69966659C>T" "" "" "" "MYPN(NM_001256267.1):c.3792C>T (p.(Tyr1264=)), MYPN(NM_001256268.2):c.2910C>T (p.Y970=), MYPN(NM_032578.3):c.3792C>T (p.Y1264=), MYPN(NM_032578.4):..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861947" "0" "50" "10" "69966660" "69966660" "subst" "2.44212E-5" "02330" "MYPN_000327" "g.69966660G>A" "" "" "" "MYPN(NM_032578.4):c.3793G>A (p.A1265T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861948" "0" "50" "10" "69970102" "69970102" "subst" "8.12381E-6" "02325" "MYPN_000321" "g.69970102G>A" "" "" "" "MYPN(NM_032578.3):c.3853G>A (p.G1285R), MYPN(NM_032578.4):c.3853G>A (p.G1285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861949" "0" "50" "10" "69970129" "69970129" "subst" "0" "01943" "MYPN_000328" "g.69970129A>G" "" "" "" "MYPN(NM_032578.3):c.3880A>G (p.I1294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879763" "11" "50" "10" "69959174" "69959174" "subst" "0.00319439" "00006" "MYPN_000003" "g.69959174C>T" "" "{PMID:Reinstein 2016:27329731}" "" "" "" "Germline" "" "rs71534278" "0" "" "" "" "" "VUS" "" "0000889185" "0" "50" "10" "69881418" "69881418" "subst" "4.06233E-6" "02330" "MYPN_000329" "g.69881418A>G" "" "" "" "MYPN(NM_032578.4):c.223A>G (p.S75G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889186" "0" "50" "10" "69881820" "69881820" "subst" "0" "02330" "MYPN_000330" "g.69881820T>G" "" "" "" "MYPN(NM_032578.4):c.625T>G (p.S209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889187" "0" "50" "10" "69882040" "69882040" "subst" "0.000110084" "02325" "MYPN_000217" "g.69882040A>G" "" "" "" "MYPN(NM_001256267.1):c.845A>G (p.(Glu282Gly)), MYPN(NM_032578.4):c.845A>G (p.E282G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889188" "0" "30" "10" "69908244" "69908244" "subst" "0.00223265" "02326" "MYPN_000085" "g.69908244A>G" "" "" "" "MYPN(NM_001256268.2):c.363+20A>G, MYPN(NM_032578.3):c.1245+20A>G, MYPN(NM_032578.4):c.1245+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889189" "0" "30" "10" "69909844" "69909844" "subst" "0.000885884" "02326" "MYPN_000088" "g.69909844C>A" "" "" "" "MYPN(NM_001256268.2):c.411C>A (p.I137=), MYPN(NM_032578.3):c.1293C>A (p.I431=), MYPN(NM_032578.4):c.1293C>A (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889190" "0" "50" "10" "69926085" "69926085" "subst" "0" "02330" "MYPN_000331" "g.69926085C>G" "" "" "" "MYPN(NM_032578.4):c.1635C>G (p.H545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889191" "0" "50" "10" "69926308" "69926308" "subst" "2.4371E-5" "02330" "MYPN_000201" "g.69926308A>G" "" "" "" "MYPN(NM_032578.3):c.1858A>G (p.T620A), MYPN(NM_032578.4):c.1858A>G (p.T620A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889192" "0" "10" "10" "69935235" "69935237" "del" "0.000495737" "02330" "MYPN_000332" "g.69935235_69935237del" "" "" "" "MYPN(NM_032578.4):c.2703+17_2703+19delTAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889193" "0" "10" "10" "69935238" "69935238" "subst" "0.000495758" "02330" "MYPN_000333" "g.69935238A>C" "" "" "" "MYPN(NM_032578.4):c.2703+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889194" "0" "50" "10" "69954268" "69954268" "subst" "8.16E-6" "02330" "MYPN_000334" "g.69954268A>G" "" "" "" "MYPN(NM_032578.4):c.3074A>G (p.Q1025R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889195" "0" "10" "10" "69957104" "69957104" "subst" "3.65747E-5" "02330" "MYPN_000147" "g.69957104T>C" "" "" "" "MYPN(NM_032578.3):c.3159-5T>C, MYPN(NM_032578.4):c.3159-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889196" "0" "50" "10" "69959218" "69959218" "subst" "6.09459E-5" "02330" "MYPN_000257" "g.69959218G>A" "" "" "" "MYPN(NM_001256268.1):c.2497G>A (p.G833R), MYPN(NM_001256268.2):c.2497G>A (p.G833R), MYPN(NM_032578.4):c.3379G>A (p.G1127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889197" "0" "10" "10" "69966545" "69966545" "subst" "0" "02330" "MYPN_000335" "g.69966545A>G" "" "" "" "MYPN(NM_032578.4):c.3678A>G (p.T1226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889198" "0" "10" "10" "69970212" "69970212" "subst" "0.000121886" "02330" "MYPN_000336" "g.69970212A>G" "" "" "" "MYPN(NM_032578.4):c.3963A>G (p.*1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913294" "0" "50" "10" "69882081" "69882081" "subst" "0" "02330" "MYPN_000337" "g.69882081C>G" "" "" "" "MYPN(NM_032578.4):c.886C>G (p.P296A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913295" "0" "10" "10" "69905300" "69905300" "subst" "0.149945" "02325" "MYPN_000052" "g.69905300G>A" "" "" "" "MYPN(NM_001256268.2):c.248+17G>A, MYPN(NM_032578.3):c.1130+17G>A, MYPN(NM_032578.4):c.1130+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913296" "0" "10" "10" "69908241" "69908241" "subst" "0.0968049" "02325" "MYPN_000084" "g.69908241G>A" "" "" "" "MYPN(NM_001256268.2):c.363+17G>A, MYPN(NM_032578.3):c.1245+17G>A, MYPN(NM_032578.4):c.1245+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913297" "0" "10" "10" "69909756" "69909756" "subst" "0.0509879" "02325" "MYPN_000338" "g.69909756T>C" "" "" "" "MYPN(NM_032578.4):c.1246-41T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913298" "0" "10" "10" "69926097" "69926097" "subst" "0.632627" "02325" "MYPN_000007" "g.69926097T>C" "" "" "" "MYPN(NM_001256268.2):c.765T>C (p.S255=), MYPN(NM_032578.4):c.1647T>C (p.S549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913299" "0" "50" "10" "69926177" "69926177" "subst" "0" "02325" "MYPN_000339" "g.69926177C>G" "" "" "" "MYPN(NM_032578.4):c.1727C>G (p.P576R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913300" "0" "10" "10" "69926319" "69926319" "subst" "0.165836" "02325" "MYPN_000015" "g.69926319C>A" "" "" "" "MYPN(NM_001256268.2):c.987C>A (p.T329=), MYPN(NM_032578.4):c.1869C>A (p.T623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913301" "0" "10" "10" "69926325" "69926325" "subst" "0.188256" "02325" "MYPN_000008" "g.69926325C>T" "" "" "" "MYPN(NM_001256268.2):c.993C>T (p.P331=), MYPN(NM_032578.4):c.1875C>T (p.P625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913302" "0" "10" "10" "69926334" "69926334" "subst" "0.441802" "02325" "MYPN_000016" "g.69926334C>G" "" "" "" "MYPN(NM_001256268.2):c.1002C>G (p.F334L), MYPN(NM_032578.4):c.1884C>G (p.F628L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913303" "0" "50" "10" "69926338" "69926338" "subst" "4.06227E-6" "02330" "MYPN_000340" "g.69926338G>A" "" "" "" "MYPN(NM_032578.4):c.1888G>A (p.E630K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913304" "0" "10" "10" "69933921" "69933921" "subst" "0.432927" "02325" "MYPN_000009" "g.69933921G>A" "" "" "" "MYPN(NM_001256268.2):c.1190G>A (p.S397N), MYPN(NM_032578.4):c.2072G>A (p.S691N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913305" "0" "10" "10" "69933969" "69933969" "subst" "0.428263" "02325" "MYPN_000010" "g.69933969G>A" "" "" "" "MYPN(NM_001256268.2):c.1238G>A (p.S413N), MYPN(NM_032578.4):c.2120G>A (p.S707N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913306" "0" "10" "10" "69934258" "69934258" "subst" "0.520294" "02325" "MYPN_000020" "g.69934258C>G" "" "" "" "MYPN(NM_001256268.2):c.1527C>G (p.S509R), MYPN(NM_032578.4):c.2409C>G (p.S803R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925170" "0" "50" "10" "69902746" "69902746" "subst" "0.000158538" "02330" "MYPN_000341" "g.69902746G>A" "" "" "" "MYPN(NM_032578.4):c.952G>A (p.V318I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925171" "0" "50" "10" "69926290" "69926290" "subst" "9.74825E-5" "02330" "MYPN_000041" "g.69926290G>A" "" "" "" "MYPN(NM_032578.3):c.1840G>A (p.E614K), MYPN(NM_032578.4):c.1840G>A (p.E614K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925172" "0" "50" "10" "69955258" "69955258" "del" "0" "02330" "MYPN_000253" "g.69955258del" "" "" "" "MYPN(NM_032578.3):c.3127delA (p.S1043Vfs*3), MYPN(NM_032578.4):c.3127delA (p.S1043Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925173" "0" "10" "10" "69959342" "69959342" "subst" "2.55663E-5" "02330" "MYPN_000342" "g.69959342G>T" "" "" "" "MYPN(NM_032578.4):c.3493+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925174" "0" "50" "10" "69970074" "69970074" "subst" "0" "02330" "MYPN_000312" "g.69970074G>A" "" "" "" "MYPN(NM_032578.3):c.3825G>A (p.M1275I), MYPN(NM_032578.4):c.3825G>A (p.M1275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929687" "0" "50" "10" "69902807" "69902807" "subst" "4.06818E-5" "02330" "MYPN_000343" "g.69902807G>A" "" "" "" "MYPN(NM_032578.4):c.1013G>A (p.R338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929688" "0" "10" "10" "69925511" "69925511" "subst" "1.6277E-5" "02330" "MYPN_000344" "g.69925511C>T" "" "" "" "MYPN(NM_032578.4):c.1536C>T (p.C512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929689" "0" "10" "10" "69948667" "69948667" "subst" "8.164E-6" "02330" "MYPN_000345" "g.69948667C>T" "" "" "" "MYPN(NM_032578.4):c.2709C>T (p.Y903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929690" "0" "10" "10" "69961759" "69961759" "subst" "0" "02330" "MYPN_000166" "g.69961759A>G" "" "" "" "MYPN(NM_001256268.1):c.2777+8A>G, MYPN(NM_032578.3):c.3659+8A>G, MYPN(NM_032578.4):c.3659+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949419" "0" "50" "10" "69925569" "69925569" "subst" "2.8681E-5" "02330" "MYPN_000229" "g.69925569G>A" "" "" "" "MYPN(NM_032578.4):c.1594G>A (p.V532M, p.(Val532Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949420" "0" "50" "10" "69948714" "69948714" "subst" "6.92008E-5" "02325" "MYPN_000247" "g.69948714G>A" "" "" "" "MYPN(NM_032578.4):c.2756G>A (p.R919H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949421" "0" "10" "10" "69948903" "69948903" "subst" "4.91836E-5" "02330" "MYPN_000138" "g.69948903A>C" "" "" "" "MYPN(NM_032578.3):c.2925+20A>C, MYPN(NM_032578.4):c.2925+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949422" "0" "50" "10" "69954253" "69954253" "subst" "0" "02325" "MYPN_000346" "g.69954253T>C" "" "" "" "MYPN(NM_032578.4):c.3059T>C (p.M1020T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949423" "0" "50" "10" "69954268" "69954268" "subst" "8.16E-6" "02325" "MYPN_000334" "g.69954268A>G" "" "" "" "MYPN(NM_032578.4):c.3074A>G (p.Q1025R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949424" "0" "50" "10" "69959315" "69959315" "subst" "4.06412E-6" "02330" "MYPN_000347" "g.69959315T>A" "" "" "" "MYPN(NM_032578.4):c.3476T>A (p.L1159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957732" "0" "70" "10" "69926074" "69926074" "subst" "4.06223E-6" "00006" "MYPN_000348" "g.69926074G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68166317G>A" "" "likely pathogenic" "" "0000957733" "0" "50" "10" "69925569" "69925569" "subst" "2.8681E-5" "00006" "MYPN_000229" "g.69925569G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68165812G>A" "" "VUS" "" "0000957794" "0" "70" "10" "69948821" "69948821" "subst" "0.000472232" "00006" "MYPN_000049" "g.69948821C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68189064C>T" "" "VUS" "" "0000957825" "0" "70" "10" "69933879" "69933879" "subst" "0" "00006" "MYPN_000349" "g.69933879T>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68174122T>G" "" "likely pathogenic" "" "0000957862" "0" "70" "10" "69948821" "69948821" "subst" "0.000472232" "00006" "MYPN_000049" "g.69948821C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68189064C>T" "" "VUS" "" "0000957888" "0" "50" "10" "69955255" "69955255" "subst" "0.000414314" "00006" "MYPN_000146" "g.69955255C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68195498C>T" "" "VUS" "" "0000957905" "0" "70" "10" "69970208" "69970208" "subst" "4.06266E-6" "00006" "MYPN_000350" "g.69970208T>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68210451T>C" "" "likely pathogenic" "" "0000965782" "0" "50" "10" "69881428" "69881428" "subst" "0" "02327" "MYPN_000351" "g.69881428T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965783" "0" "30" "10" "69902781" "69902781" "subst" "6.50613E-5" "02330" "MYPN_000352" "g.69902781G>A" "" "" "" "MYPN(NM_032578.4):c.987G>A (p.A329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965785" "0" "50" "10" "69909854" "69909854" "subst" "0" "02325" "MYPN_000353" "g.69909854C>T" "" "" "" "MYPN(NM_032578.4):c.1303C>T (p.P435S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965786" "0" "50" "10" "69934161" "69934161" "subst" "1.21979E-5" "02325" "MYPN_000354" "g.69934161A>G" "" "" "" "MYPN(NM_032578.4):c.2312A>G (p.Q771R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965787" "0" "50" "10" "69957120" "69957120" "subst" "2.0316E-5" "02325" "MYPN_000286" "g.69957120G>A" "" "" "" "MYPN(NM_032578.4):c.3170G>A (p.R1057Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979080" "0" "30" "10" "69881997" "69881997" "subst" "0.000458171" "02326" "MYPN_000296" "g.69881997C>T" "" "" "" "MYPN(NM_032578.3):c.802C>T (p.P268S), MYPN(NM_032578.4):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979081" "0" "10" "10" "69934000" "69934000" "subst" "2.03065E-5" "02330" "MYPN_000355" "g.69934000G>A" "" "" "" "MYPN(NM_032578.4):c.2151G>A (p.T717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979082" "0" "50" "10" "69934170" "69934170" "subst" "7.72584E-5" "02330" "MYPN_000058" "g.69934170C>A" "" "" "" "MYPN(NM_032578.4):c.2321C>A (p.S774Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979083" "0" "90" "10" "69934406" "69934412" "del" "0" "02325" "MYPN_000356" "g.69934406_69934412del" "" "" "" "MYPN(NM_032578.4):c.2557_2563delCCATCCA (p.P853Cfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979084" "0" "50" "10" "69961596" "69961596" "subst" "2.85351E-5" "01804" "MYPN_000357" "g.69961596G>A" "" "" "" "MYPN(NM_032578.4):c.3504G>A (p.(Val1168=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979085" "0" "10" "10" "69966513" "69966513" "subst" "7.31101E-5" "02330" "MYPN_000358" "g.69966513C>T" "" "" "" "MYPN(NM_032578.4):c.3660-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979086" "0" "10" "10" "69966667" "69966667" "subst" "4.07199E-6" "02330" "MYPN_000359" "g.69966667G>A" "" "" "" "MYPN(NM_032578.4):c.3793+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979087" "0" "50" "10" "69970121" "69970121" "subst" "0" "01804" "MYPN_000360" "g.69970121G>C" "" "" "" "MYPN(NM_032578.4):c.3872G>C (p.(Gly1291Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989651" "0" "50" "10" "69934302" "69934302" "subst" "0" "02515" "MYPN_000361" "g.69934302C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.68174545C>T" "" "VUS" "" "0000998448" "0" "50" "10" "69881254" "69881254" "subst" "0.000950617" "01804" "MYPN_000023" "g.69881254A>G" "" "" "" "MYPN(NM_032578.3):c.59A>G (p.Y20C, p.(Tyr20Cys)), MYPN(NM_032578.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998449" "0" "50" "10" "69881639" "69881639" "dup" "0" "01804" "MYPN_000188" "g.69881639dup" "" "" "" "MYPN(NM_001256267.1):c.444dupA (p.(Val149fs)), MYPN(NM_032578.4):c.444dupA (p.V149Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998450" "0" "30" "10" "69882004" "69882004" "subst" "0" "01804" "MYPN_000362" "g.69882004G>C" "" "" "" "MYPN(NM_032578.3):c.809G>C (p.(Arg270Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998451" "0" "50" "10" "69918336" "69918336" "subst" "0" "02330" "MYPN_000363" "g.69918336G>A" "" "" "" "MYPN(NM_032578.4):c.1411G>A (p.E471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998452" "0" "50" "10" "69926240" "69926240" "subst" "0.000389952" "02325" "MYPN_000100" "g.69926240G>A" "" "" "" "MYPN(NM_001256268.1):c.908G>A (p.R303H), MYPN(NM_032578.3):c.1790G>A (p.R597H), MYPN(NM_032578.4):c.1790G>A (p.R597H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998453" "0" "50" "10" "69926297" "69926297" "subst" "0" "02330" "MYPN_000364" "g.69926297G>A" "" "" "" "MYPN(NM_032578.4):c.1847G>A (p.G616D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998454" "0" "50" "10" "69935169" "69935169" "subst" "2.03174E-5" "01804" "MYPN_000365" "g.69935169G>A" "" "" "" "MYPN(NM_032578.3):c.2654G>A (p.(Arg885Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998455" "0" "50" "10" "69948722" "69948722" "subst" "4.06918E-5" "02330" "MYPN_000366" "g.69948722C>T" "" "" "" "MYPN(NM_032578.4):c.2764C>T (p.R922C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998456" "0" "50" "10" "69948792" "69948792" "subst" "0" "02325" "MYPN_000367" "g.69948792C>T" "" "" "" "MYPN(NM_032578.4):c.2834C>T (p.P945L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998457" "0" "30" "10" "69948822" "69948822" "subst" "6.1068E-5" "01804" "MYPN_000043" "g.69948822G>A" "" "" "" "MYPN(NM_001256268.1):c.1982G>A (p.R661Q), MYPN(NM_001256268.2):c.1982G>A (p.R661Q), MYPN(NM_032578.3):c.2864G>A (p.(Arg955Gln), p.R955Q), MYPN(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998458" "0" "50" "10" "69954176" "69954176" "subst" "0" "01804" "MYPN_000368" "g.69954176G>T" "" "" "" "MYPN(NM_032578.3):c.2982G>T (p.(Met994Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998459" "0" "50" "10" "69954234" "69954234" "subst" "2.44465E-5" "01804" "MYPN_000252" "g.69954234G>A" "" "" "" "MYPN(NM_001256267.1):c.3040G>A (p.(Asp1014Asn)), MYPN(NM_032578.4):c.3040G>A (p.D1014N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998460" "0" "50" "10" "69961636" "69961636" "subst" "1.62734E-5" "02325" "MYPN_000369" "g.69961636G>A" "" "" "" "MYPN(NM_032578.4):c.3544G>A (p.G1182S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998461" "0" "30" "10" "69961654" "69961654" "subst" "0" "01804" "MYPN_000370" "g.69961654C>G" "" "" "" "MYPN(NM_001256267.1):c.3562C>G (p.(Pro1188Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014643" "0" "50" "10" "69918333" "69918333" "subst" "0" "02330" "MYPN_000371" "g.69918333A>G" "" "" "" "MYPN(NM_032578.4):c.1408A>G (p.R470G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014644" "0" "50" "10" "69934077" "69934077" "subst" "0.000158494" "02325" "MYPN_000115" "g.69934077C>T" "" "" "" "MYPN(NM_032578.4):c.2228C>T (p.P743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025758" "0" "50" "10" "69933996" "69933996" "subst" "0" "02330" "MYPN_000372" "g.69933996A>G" "" "" "" "MYPN(NM_032578.4):c.2147A>G (p.Q716R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025759" "0" "50" "10" "69970082" "69970082" "subst" "0.000438707" "01943" "MYPN_000265" "g.69970082G>A" "" "" "" "MYPN(NM_032578.3):c.3833G>A (p.R1278Q), MYPN(NM_032578.4):c.3833G>A (p.R1278Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037945" "0" "30" "10" "69905283" "69905283" "subst" "0.000524911" "01804" "MYPN_000079" "g.69905283G>A" "" "" "" "MYPN(NM_001256268.1):c.248G>A (p.R83Q), MYPN(NM_001256268.2):c.248G>A (p.R83Q), MYPN(NM_032578.3):c.1130G>A (p.R377Q), MYPN(NM_032578.4):c.1130G>A ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037946" "0" "50" "10" "69959144" "69959144" "subst" "1.21993E-5" "01804" "MYPN_000294" "g.69959144C>T" "" "" "" "MYPN(NM_032578.4):c.3305C>T (p.P1102L, p.(Pro1102Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045110" "0" "50" "10" "69970102" "69970102" "subst" "8.12381E-6" "03779" "MYPN_000321" "g.69970102G>A" "" "" "" "" "" "Unknown" "" "rs750277122" "0" "" "" "" "" "VUS" "" "0001046240" "0" "50" "10" "69957221" "69957221" "subst" "1.21878E-5" "02325" "MYPN_000373" "g.69957221C>T" "" "" "" "MYPN(NM_032578.4):c.3271C>T (p.R1091W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 MYPN ## Count = 673 "{{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}}" "0000012848" "00014206" "50" "902" "4640" "902" "4640" "c.902+4640A>G" "r.(=)" "p.(=)" "" "0000036029" "00014206" "55" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(=)" "?" "0000071838" "00014206" "70" "662" "0" "662" "0" "c.662A>T" "r.(?)" "p.(Asp221Val)" "2" "0000088994" "00014206" "50" "2321" "0" "2321" "0" "c.2321C>A" "r.(?)" "p.(Ser774Tyr)" "11" "0000235439" "00014206" "50" "2765" "0" "2765" "0" "c.2765G>A" "r.(?)" "p.(Arg922His)" "13" "0000246874" "00014206" "10" "1245" "20" "1245" "20" "c.1245+20A>G" "r.(=)" "p.(=)" "" "0000246876" "00014206" "10" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(Pro281=)" "" "0000246883" "00014206" "10" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Lys575=)" "" "0000246889" "00014206" "30" "2236" "0" "2236" "0" "c.2236A>G" "r.(?)" "p.(Thr746Ala)" "" "0000246891" "00014206" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asn84Ser)" "" "0000246901" "00014206" "50" "2726" "0" "2726" "0" "c.2726A>C" "r.(?)" "p.(Glu909Ala)" "" "0000246928" "00014206" "10" "2703" "18" "2703" "18" "c.2703+18A>G" "r.(=)" "p.(=)" "" "0000246959" "00014206" "50" "662" "0" "662" "0" "c.662A>T" "r.(?)" "p.(Asp221Val)" "" "0000246972" "00014206" "50" "2461" "0" "2461" "0" "c.2461A>G" "r.(?)" "p.(Ser821Gly)" "" "0000248050" "00014206" "30" "1245" "20" "1245" "20" "c.1245+20A>G" "r.(=)" "p.(=)" "" "0000248102" "00014206" "30" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Lys575=)" "" "0000248120" "00014206" "30" "1662" "0" "1662" "0" "c.1662A>C" "r.(?)" "p.(Ala554=)" "" "0000249383" "00014206" "30" "3405" "0" "3405" "0" "c.3405A>T" "r.(?)" "p.(Pro1135=)" "" "0000249609" "00014206" "70" "70" "0" "70" "0" "c.70del" "r.(?)" "p.(Thr24ProfsTer44)" "" "0000249643" "00014206" "70" "981" "0" "981" "0" "c.981dup" "r.(?)" "p.(Ile328HisfsTer6)" "" "0000249704" "00014206" "50" "2726" "0" "2726" "0" "c.2726A>C" "r.(?)" "p.(Glu909Ala)" "" "0000251882" "00014206" "30" "2260" "0" "2260" "0" "c.2260A>C" "r.(?)" "p.(Ile754Leu)" "" "0000251968" "00014206" "30" "285" "0" "285" "0" "c.285A>T" "r.(?)" "p.(Gln95His)" "" "0000252188" "00014206" "30" "2925" "20" "2925" "20" "c.2925+20A>C" "r.(=)" "p.(=)" "" "0000252189" "00014206" "30" "3659" "8" "3659" "8" "c.3659+8A>G" "r.(=)" "p.(=)" "" "0000253311" "00014206" "10" "1245" "20" "1245" "20" "c.1245+20A>G" "r.(=)" "p.(=)" "" "0000253357" "00014206" "10" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(Pro281=)" "" "0000253839" "00014206" "10" "2565" "-21" "2565" "-21" "c.2565-21A>G" "r.(=)" "p.(=)" "" "0000254092" "00014206" "30" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Lys575=)" "" "0000254110" "00014206" "30" "1662" "0" "1662" "0" "c.1662A>C" "r.(?)" "p.(Ala554=)" "" "0000254183" "00014206" "30" "2236" "0" "2236" "0" "c.2236A>G" "r.(?)" "p.(Thr746Ala)" "" "0000255101" "00014206" "30" "1858" "0" "1858" "0" "c.1858A>G" "r.(?)" "p.(Thr620Ala)" "" "0000255106" "00014206" "30" "1981" "0" "1981" "0" "c.1981A>T" "r.(?)" "p.(Thr661Ser)" "" "0000255267" "00014206" "30" "903" "-18" "903" "-18" "c.903-18A>T" "r.(=)" "p.(=)" "" "0000255827" "00014206" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asn84Ser)" "" "0000256471" "00014206" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Ser112Gly)" "" "0000292895" "00014206" "10" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "" "0000292896" "00014206" "10" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Arg631=)" "" "0000292897" "00014206" "50" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Cys)" "" "0000292898" "00014206" "10" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Pro645=)" "" "0000292899" "00014206" "10" "1079" "-18" "1079" "-18" "c.1079-18T>C" "r.(=)" "p.(=)" "" "0000292900" "00014206" "50" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Val361Phe)" "" "0000292901" "00014206" "10" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Glu374=)" "" "0000292902" "00014206" "10" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Ser691Asn)" "" "0000292903" "00014206" "10" "2120" "0" "2120" "0" "c.2120G>A" "r.(?)" "p.(Ser707Asn)" "" "0000292904" "00014206" "10" "2163" "0" "2163" "0" "c.2163C>A" "r.(?)" "p.(Ala721=)" "" "0000292905" "00014206" "10" "1317" "15" "1317" "21" "c.1317+15_1317+21del" "r.(=)" "p.(=)" "" "0000292906" "00014206" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Pro47Leu)" "" "0000292907" "00014206" "50" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Arg489Gln)" "" "0000292908" "00014206" "10" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "" "0000292909" "00014206" "10" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(His531=)" "" "0000292910" "00014206" "10" "2703" "17" "2703" "17" "c.2703+17T>C" "r.(=)" "p.(=)" "" "0000292911" "00014206" "10" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Asn633=)" "" "0000292912" "00014206" "10" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Glu648=)" "" "0000292913" "00014206" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000292914" "00014206" "10" "2880" "0" "2880" "0" "c.2880T>G" "r.(?)" "p.(Ser960=)" "" "0000292915" "00014206" "10" "2886" "0" "2886" "0" "c.2886=" "r.(=)" "p.(Val962=)" "" "0000292916" "00014206" "10" "2925" "9" "2925" "9" "c.2925+9G>C" "r.(=)" "p.(=)" "" "0000292917" "00014206" "50" "2137" "0" "2137" "0" "c.2137C>A" "r.(?)" "p.(Pro713Thr)" "" "0000292918" "00014206" "10" "3075" "20" "3075" "20" "c.3075+20C>T" "r.(=)" "p.(=)" "" "0000292919" "00014206" "50" "2228" "0" "2228" "0" "c.2228C>A" "r.(?)" "p.(Pro743Gln)" "" "0000292920" "00014206" "30" "2228" "0" "2228" "0" "c.2228C>T" "r.(?)" "p.(Pro743Leu)" "" "0000292921" "00014206" "10" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Pro743=)" "" "0000292922" "00014206" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Gly368=)" "" "0000292923" "00014206" "30" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Arg1042Cys)" "" "0000292924" "00014206" "10" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Arg)" "" "0000292925" "00014206" "50" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810Cys)" "" "0000292926" "00014206" "10" "2447" "0" "2447" "0" "c.2447C>T" "r.(?)" "p.(Pro816Leu)" "" "0000292927" "00014206" "10" "1130" "17" "1130" "17" "c.1130+17G>A" "r.(=)" "p.(=)" "" "0000292928" "00014206" "10" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(Pro1135Thr)" "" "0000292929" "00014206" "10" "3420" "0" "3420" "0" "c.3420C>T" "r.(?)" "p.(Asp1140=)" "" "0000292930" "00014206" "50" "2564" "1" "2564" "1" "c.2564+1G>C" "r.spl?" "p.?" "" "0000292931" "00014206" "10" "3493" "15" "3493" "20" "c.3493+15_3493+20del" "r.(=)" "p.(=)" "" "0000292932" "00014206" "10" "2703" "13" "2703" "13" "c.2703+13G>A" "r.(=)" "p.(=)" "" "0000292933" "00014206" "10" "3735" "0" "3735" "0" "c.3735G>T" "r.(?)" "p.(Thr1245=)" "" "0000292934" "00014206" "10" "3792" "0" "3792" "0" "c.3792C>T" "r.(?)" "p.(Tyr1264=)" "" "0000292935" "00014206" "50" "2925" "18" "2925" "18" "c.2925+18C>T" "r.(=)" "p.(=)" "" "0000292936" "00014206" "10" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "" "0000292937" "00014206" "10" "3075" "5" "3075" "13" "c.3075+5_3075+13del" "r.spl?" "p.?" "" "0000292938" "00014206" "10" "3075" "9" "3075" "9" "c.3075+9G>A" "r.(=)" "p.(=)" "" "0000292939" "00014206" "10" "3078" "0" "3078" "0" "c.3078G>A" "r.(?)" "p.(Gly1026=)" "" "0000292940" "00014206" "50" "3170" "0" "3170" "0" "c.3170G>C" "r.(?)" "p.(Arg1057Pro)" "" "0000292941" "00014206" "10" "3279" "0" "3279" "0" "c.3279C>T" "r.(?)" "p.(Asp1093=)" "" "0000292942" "00014206" "10" "3285" "18" "3285" "18" "c.3285+18T>C" "r.(=)" "p.(=)" "" "0000292943" "00014206" "10" "3421" "0" "3421" "0" "c.3421G>A" "r.(?)" "p.(Ala1141Thr)" "" "0000292944" "00014206" "50" "342" "0" "342" "0" "c.342G>C" "r.(?)" "p.(Glu114Asp)" "" "0000292945" "00014206" "10" "3493" "11" "3493" "11" "c.3493+11C>T" "r.(=)" "p.(=)" "" "0000292946" "00014206" "10" "3493" "6" "3493" "6" "c.3493+6G>A" "r.(=)" "p.(=)" "" "0000292947" "00014206" "10" "1236" "0" "1236" "0" "c.1236C>A" "r.(?)" "p.(Thr412=)" "" "0000292948" "00014206" "10" "3564" "0" "3564" "0" "c.3564C>T" "r.(?)" "p.(Pro1188=)" "" "0000292949" "00014206" "50" "3593" "0" "3593" "0" "c.3593T>C" "r.(?)" "p.(Met1198Thr)" "" "0000292950" "00014206" "10" "1245" "17" "1245" "17" "c.1245+17G>A" "r.(=)" "p.(=)" "" "0000292951" "00014206" "10" "1246" "-19" "1246" "-19" "c.1246-19G>A" "r.(=)" "p.(=)" "" "0000292952" "00014206" "10" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(Gln417=)" "" "0000292953" "00014206" "10" "3768" "0" "3768" "0" "c.3768G>A" "r.(?)" "p.(Ser1256=)" "" "0000292954" "00014206" "50" "3818" "0" "3818" "0" "c.3818C>T" "r.(?)" "p.(Pro1273Leu)" "" "0000292955" "00014206" "10" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Arg1312Trp)" "" "0000292956" "00014206" "50" "3944" "0" "3944" "0" "c.3944T>C" "r.(?)" "p.(Val1315Ala)" "" "0000292957" "00014206" "10" "1293" "0" "1293" "0" "c.1293C>A" "r.(?)" "p.(Ile431=)" "" "0000292958" "00014206" "10" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(Tyr140=)" "" "0000292959" "00014206" "10" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Gln14=)" "" "0000292961" "00014206" "50" "459" "0" "459" "0" "c.459G>T" "r.(?)" "p.(Lys153Asn)" "" "0000292962" "00014206" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0000292963" "00014206" "10" "1460" "-14" "1460" "-14" "c.1460-14T>A" "r.(=)" "p.(=)" "" "0000292964" "00014206" "30" "595" "0" "598" "0" "c.595_598del" "r.(?)" "p.(Phe199GlnfsTer25)" "" "0000292965" "00014206" "10" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Arg220=)" "" "0000292966" "00014206" "50" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Gly248Arg)" "" "0000292967" "00014206" "10" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(Ser549=)" "" "0000292968" "00014206" "10" "1869" "0" "1869" "0" "c.1869C>A" "r.(?)" "p.(Thr623=)" "" "0000292969" "00014206" "10" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Pro625=)" "" "0000296261" "00014206" "30" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Arg631=)" "" "0000296262" "00014206" "30" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Pro645=)" "" "0000296263" "00014206" "30" "123" "0" "123" "0" "c.123T>C" "r.(?)" "p.(Pro41=)" "" "0000296264" "00014206" "10" "2703" "17" "2703" "17" "c.2703+17T>C" "r.(=)" "p.(=)" "" "0000296265" "00014206" "50" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Glu359Lys)" "" "0000296266" "00014206" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000296267" "00014206" "30" "2880" "0" "2880" "0" "c.2880T>G" "r.(?)" "p.(Ser960=)" "" "0000296268" "00014206" "10" "2886" "0" "2886" "0" "c.2886=" "r.(=)" "p.(Val962=)" "" "0000296269" "00014206" "30" "2925" "9" "2925" "9" "c.2925+9G>C" "r.(=)" "p.(=)" "" "0000296270" "00014206" "50" "211" "0" "213" "0" "c.211_213del" "r.(?)" "p.(Glu71del)" "" "0000296271" "00014206" "30" "3075" "20" "3075" "20" "c.3075+20C>T" "r.(=)" "p.(=)" "" "0000296272" "00014206" "30" "3075" "5" "3075" "13" "c.3075+5_3075+13del" "r.spl?" "p.?" "" "0000296273" "00014206" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Gly368=)" "" "0000296274" "00014206" "50" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Arg1042Cys)" "" "0000296275" "00014206" "30" "259" "0" "259" "0" "c.259C>G" "r.(?)" "p.(Pro87Ala)" "" "0000296276" "00014206" "10" "3493" "15" "3493" "20" "c.3493+15_3493+20del" "r.(=)" "p.(=)" "" "0000296277" "00014206" "30" "3659" "9" "3659" "9" "c.3659+9G>T" "r.(=)" "p.(=)" "" "0000296278" "00014206" "30" "3711" "0" "3711" "0" "c.3711G>A" "r.(?)" "p.(Lys1237=)" "" "0000296279" "00014206" "50" "3721" "0" "3721" "0" "c.3721G>A" "r.(?)" "p.(Ala1241Thr)" "" "0000296280" "00014206" "30" "3735" "0" "3735" "0" "c.3735G>T" "r.(?)" "p.(Thr1245=)" "" "0000296281" "00014206" "50" "3763" "0" "3763" "0" "c.3763G>A" "r.(?)" "p.(Val1255Met)" "" "0000296282" "00014206" "30" "3792" "0" "3792" "0" "c.3792C>T" "r.(?)" "p.(Tyr1264=)" "" "0000296283" "00014206" "30" "3819" "0" "3819" "0" "c.3819G>A" "r.(?)" "p.(Pro1273=)" "" "0000296284" "00014206" "30" "1224" "0" "1224" "0" "c.1224T>C" "r.(?)" "p.(Pro408=)" "" "0000296285" "00014206" "30" "1236" "0" "1236" "0" "c.1236C>A" "r.(?)" "p.(Thr412=)" "" "0000296286" "00014206" "30" "1246" "-19" "1246" "-19" "c.1246-19G>A" "r.(=)" "p.(=)" "" "0000296287" "00014206" "30" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "" "0000296288" "00014206" "30" "1293" "0" "1293" "0" "c.1293C>A" "r.(?)" "p.(Ile431=)" "" "0000296289" "00014206" "70" "444" "0" "444" "0" "c.444dup" "r.(?)" "p.(Val149SerfsTer5)" "" "0000296291" "00014206" "30" "1460" "-14" "1460" "-14" "c.1460-14T>A" "r.(=)" "p.(=)" "" "0000296292" "00014206" "30" "80" "0" "80" "0" "c.80G>C" "r.(?)" "p.(Arg27Pro)" "" "0000299885" "00014206" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000299886" "00014206" "30" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(His531=)" "" "0000299887" "00014206" "10" "1600" "21" "1600" "21" "c.1600+21G>C" "r.(=)" "p.(=)" "" "0000299888" "00014206" "10" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Ile6Thr)" "" "0000299889" "00014206" "10" "2925" "9" "2925" "9" "c.2925+9G>C" "r.(=)" "p.(=)" "" "0000299890" "00014206" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Gly368=)" "" "0000299891" "00014206" "50" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Arg1042Cys)" "" "0000299892" "00014206" "10" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Arg)" "" "0000299893" "00014206" "10" "2447" "0" "2447" "0" "c.2447C>T" "r.(?)" "p.(Pro816Leu)" "" "0000299894" "00014206" "30" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Leu1161Ile)" "" "0000299895" "00014206" "50" "3159" "-5" "3159" "-5" "c.3159-5T>C" "r.spl?" "p.?" "" "0000299896" "00014206" "30" "1236" "0" "1236" "0" "c.1236C>A" "r.(?)" "p.(Thr412=)" "" "0000299897" "00014206" "10" "1246" "-19" "1246" "-19" "c.1246-19G>A" "r.(=)" "p.(=)" "" "0000299898" "00014206" "30" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "" "0000299899" "00014206" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0000299900" "00014206" "10" "1460" "-14" "1460" "-14" "c.1460-14T>A" "r.(=)" "p.(=)" "" "0000299901" "00014206" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Phe199=)" "" "0000299902" "00014206" "50" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Gly253Arg)" "" "0000302792" "00014206" "30" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Arg631=)" "" "0000302793" "00014206" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ala35Val)" "" "0000302794" "00014206" "30" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Pro645=)" "" "0000302795" "00014206" "10" "1079" "-18" "1079" "-18" "c.1079-18T>C" "r.(=)" "p.(=)" "" "0000302796" "00014206" "30" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000302797" "00014206" "10" "1460" "-30" "1460" "-30" "c.1460-30C>A" "r.(=)" "p.(=)" "" "0000302798" "00014206" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Tyr521=)" "" "0000302799" "00014206" "10" "1600" "21" "1600" "21" "c.1600+21G>C" "r.(=)" "p.(=)" "" "0000302800" "00014206" "30" "2572" "0" "2572" "0" "c.2572C>A" "r.(?)" "p.(Gln858Lys)" "" "0000302801" "00014206" "50" "2630" "0" "2630" "0" "c.2630G>T" "r.(?)" "p.(Arg877Leu)" "" "0000302802" "00014206" "10" "2703" "17" "2703" "17" "c.2703+17T>C" "r.(=)" "p.(=)" "" "0000302803" "00014206" "30" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Asn633=)" "" "0000302804" "00014206" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Glu648=)" "" "0000302805" "00014206" "30" "2880" "0" "2880" "0" "c.2880T>G" "r.(?)" "p.(Ser960=)" "" "0000302806" "00014206" "50" "203" "0" "203" "0" "c.203G>C" "r.(?)" "p.(Ser68Thr)" "" "0000302807" "00014206" "10" "2925" "9" "2925" "9" "c.2925+9G>C" "r.(=)" "p.(=)" "" "0000302808" "00014206" "50" "2165" "0" "2165" "0" "c.2165G>A" "r.(?)" "p.(Arg722Gln)" "" "0000302809" "00014206" "10" "3075" "20" "3075" "20" "c.3075+20C>T" "r.(=)" "p.(=)" "" "0000302810" "00014206" "50" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Arg1042Cys)" "" "0000302811" "00014206" "10" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Arg)" "" "0000302812" "00014206" "50" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810Cys)" "" "0000302813" "00014206" "10" "2447" "0" "2447" "0" "c.2447C>T" "r.(?)" "p.(Pro816Leu)" "" "0000302814" "00014206" "10" "1130" "17" "1130" "17" "c.1130+17G>A" "r.(=)" "p.(=)" "" "0000302815" "00014206" "10" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(Pro1135Thr)" "" "0000302816" "00014206" "50" "2540" "0" "2540" "0" "c.2540G>T" "r.(?)" "p.(Gly847Val)" "" "0000302817" "00014206" "10" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Leu1161Ile)" "" "0000302818" "00014206" "50" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "" "0000302819" "00014206" "10" "3493" "15" "3493" "20" "c.3493+15_3493+20del" "r.(=)" "p.(=)" "" "0000302820" "00014206" "30" "2703" "13" "2703" "13" "c.2703+13G>A" "r.(=)" "p.(=)" "" "0000302821" "00014206" "30" "2926" "-8" "2926" "-8" "c.2926-8C>T" "r.(=)" "p.(=)" "" "0000302822" "00014206" "10" "3075" "21" "3075" "21" "c.3075+21G>A" "r.(=)" "p.(=)" "" "0000302823" "00014206" "30" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Gln104=)" "" "0000302824" "00014206" "10" "3279" "0" "3279" "0" "c.3279C>T" "r.(?)" "p.(Asp1093=)" "" "0000302825" "00014206" "10" "3286" "-28" "3286" "-28" "c.3286-28G>T" "r.(=)" "p.(=)" "" "0000302826" "00014206" "30" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(Asp1134=)" "" "0000302827" "00014206" "50" "3416" "0" "3416" "0" "c.3416G>A" "r.(?)" "p.(Arg1139His)" "" "0000302828" "00014206" "10" "3421" "0" "3421" "0" "c.3421G>A" "r.(?)" "p.(Ala1141Thr)" "" "0000302829" "00014206" "10" "3493" "11" "3493" "11" "c.3493+11C>T" "r.(=)" "p.(=)" "" "0000302830" "00014206" "30" "3493" "6" "3493" "6" "c.3493+6G>T" "r.(=)" "p.(=)" "" "0000302831" "00014206" "10" "1245" "17" "1245" "17" "c.1245+17G>A" "r.(=)" "p.(=)" "" "0000302832" "00014206" "30" "1293" "0" "1293" "0" "c.1293C>A" "r.(?)" "p.(Ile431=)" "" "0000302833" "00014206" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0000302834" "00014206" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Ser)" "" "0000302835" "00014206" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "" "0000302836" "00014206" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597His)" "" "0000302837" "00014206" "90" "94" "0" "95" "0" "c.94_95del" "r.(?)" "p.(Arg32GlufsTer20)" "" "0000302838" "00014206" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(His316=)" "" "0000349207" "00014206" "50" "2721" "0" "2721" "0" "c.2721C>A" "r.(?)" "p.(Ser907Arg)" "" "0000368329" "00014206" "50" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "17" "0000408466" "00014206" "70" "903" "-3977" "1251" "0" "c.(902+1_903-3977)_(1251_1318-1)del" "r.?" "p.?" "2i_6_" "0000446169" "00014206" "90" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "17" "0000446170" "00014206" "50" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "2" "0000446171" "00014206" "50" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Ala882Thr)" "12" "0000446172" "00014206" "70" "1016" "0" "1016" "0" "c.1016A>T" "r.(?)" "p.(Tyr339Phe)" "3" "0000452225" "00014206" "70" "248" "0" "248" "0" "c.248del" "r.248del" "p.Ile83Thrfs*23" "2" "0000452226" "00014206" "70" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Ile83Thrfs*23)" "2" "0000452227" "00014206" "70" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Ile83Thrfs*23)" "2" "0000452228" "00014206" "70" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Ile83Thrfs*23)" "2" "0000452229" "00014206" "70" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Ile83Thrfs*23)" "2" "0000452230" "00014206" "90" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.(Arg1088His)" "16" "0000452231" "00014206" "90" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.(Arg1088His)" "16" "0000452232" "00014206" "90" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.(Arg1088His)" "16" "0000452233" "00014206" "90" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.(Arg1088His)" "16" "0000452234" "00014206" "90" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "17" "0000452235" "00014206" "90" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Val1195Met)" "18" "0000452236" "00014206" "10" "420" "0" "420" "0" "c.420T>C" "r.(?)" "p.(=)" "2" "0000452237" "00014206" "10" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "5" "0000452238" "00014206" "10" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(=)" "6" "0000452239" "00014206" "10" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(=)" "10" "0000452240" "00014206" "10" "1662" "0" "1662" "0" "c.1662A>C" "r.(?)" "p.(=)" "10" "0000452241" "00014206" "10" "1869" "0" "1869" "0" "c.1869C>A" "r.(?)" "p.(=)" "10" "0000452242" "00014206" "10" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(=)" "10" "0000452243" "00014206" "10" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "10" "0000452244" "00014206" "10" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(=)" "10" "0000452245" "00014206" "10" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Ser691Asn)" "11" "0000452246" "00014206" "10" "2120" "0" "2120" "0" "c.2120G>A" "r.(?)" "p.(Ser707Asn)" "11" "0000452247" "00014206" "10" "2163" "0" "2163" "0" "c.2163C>A" "r.(?)" "p.(=)" "11" "0000452248" "00014206" "10" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(=)" "11" "0000452249" "00014206" "10" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "11" "0000452250" "00014206" "10" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Arg)" "11" "0000452251" "00014206" "10" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "12" "0000452252" "00014206" "10" "2886" "0" "2886" "0" "c.2886T>C" "r.(?)" "p.(=)" "13" "0000452253" "00014206" "10" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(Pro1135Thr)" "17" "0000452254" "00014206" "90" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "2" "0000452255" "00014206" "70" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "2" "0000452256" "00014206" "70" "3793" "0" "3793" "0" "c.3793G>C" "r.(?)" "p.(Ala1265Pro)" "19" "0000452257" "00014206" "30" "650" "0" "650" "0" "c.650C>A" "r.(?)" "p.(Ala217Glu)" "2" "0000452258" "00014206" "50" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Val410Ala)" "5" "0000452259" "00014206" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Gln529*)" "9" "0000452260" "00014206" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Gln529*)" "9" "0000452261" "00014206" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.1585c>u" "p.Gln529*" "9" "0000452262" "00014206" "70" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Pro841Thr)" "11" "0000452263" "00014206" "90" "2653" "0" "2653" "0" "c.2653C>T" "r.(?)" "p.(Arg885*)" "12" "0000452264" "00014206" "70" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "17" "0000452265" "00014206" "70" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Leu1161Ile)" "17" "0000452266" "00014206" "90" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "2" "0000452267" "00014206" "70" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Ala611Trhr)" "10" "0000452268" "00014206" "70" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Ala882Thr)" "12" "0000452269" "00014206" "70" "2862" "0" "2862" "0" "c.2862C>A" "r.(?)" "p.(Phe954Leu)" "13" "0000452270" "00014206" "30" "465" "0" "465" "0" "c.465C>G" "r.(?)" "p.(=)" "2" "0000452271" "00014206" "30" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(=)" "2" "0000452272" "00014206" "30" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "5" "0000452273" "00014206" "30" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "7" "0000452274" "00014206" "30" "1419" "0" "1419" "0" "c.1419T>C" "r.(?)" "p.(=)" "7" "0000452275" "00014206" "30" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Glu614Lys)" "10" "0000452276" "00014206" "30" "1869" "0" "1869" "0" "c.1869C>A" "r.(?)" "p.(=)" "10" "0000452277" "00014206" "30" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "10" "0000452278" "00014206" "30" "2072" "0" "2072" "0" "c.2072G>C" "r.(?)" "p.(Ser691Asn)" "11" "0000452279" "00014206" "30" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "11" "0000452280" "00014206" "30" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(GLy804Arg)" "11" "0000452281" "00014206" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "13" "0000452282" "00014206" "30" "3219" "0" "3219" "0" "c.3219A>G" "r.(?)" "p.(=)" "16" "0000452283" "00014206" "30" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(=)" "17" "0000452284" "00014206" "30" "3417" "0" "3417" "0" "c.3417C>A" "r.(?)" "p.(=)" "17" "0000452285" "00014206" "30" "3917" "0" "3917" "0" "c.3917T>G" "r.(?)" "p.(Val1306Gly)" "20" "0000452286" "00014206" "30" "1128" "0" "1128" "0" "c.1128T>C" "r.(?)" "p.(=)" "4" "0000452287" "00014206" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(=)" "4" "0000452288" "00014206" "30" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "5" "0000452289" "00014206" "30" "1251" "0" "1251" "0" "c.1251G>A" "r.(?)" "p.(p.(=)" "6" "0000452290" "00014206" "30" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "7" "0000452291" "00014206" "30" "1419" "0" "1419" "0" "c.1419T>C" "r.(?)" "p.(=)" "7" "0000452292" "00014206" "30" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(=)" "10" "0000452293" "00014206" "30" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Glu614Lys)" "10" "0000452294" "00014206" "30" "1869" "0" "1869" "0" "c.1869C>A" "r.(?)" "p.(=)" "10" "0000452295" "00014206" "30" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(=)" "10" "0000452296" "00014206" "30" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "10" "0000452297" "00014206" "30" "2072" "0" "2072" "0" "c.2072G>C" "r.(?)" "p.(Ser691Asn)" "11" "0000452298" "00014206" "30" "2120" "0" "2120" "0" "c.2120G>A" "r.(?)" "p.(Ser707Asn)" "11" "0000452299" "00014206" "30" "2163" "0" "2163" "0" "c.2163C>A" "r.(?)" "p.(=)" "11" "0000452300" "00014206" "30" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "11" "0000452301" "00014206" "30" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(GLy804Arg)" "11" "0000452302" "00014206" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "13" "0000452303" "00014206" "30" "3219" "0" "3219" "0" "c.3219A>G" "r.(?)" "p.(=)" "16" "0000452304" "00014206" "30" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(=)" "17" "0000452305" "00014206" "30" "3417" "0" "3417" "0" "c.3417C>A" "r.(?)" "p.(=)" "17" "0000452306" "00014206" "30" "3917" "0" "3917" "0" "c.3917T>G" "r.(?)" "p.(Val1306Gly)" "20" "0000452307" "00014206" "50" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "13" "0000452308" "00014206" "90" "2882" "0" "2882" "0" "c.2882C>T" "r.(?)" "p.(Pro961Leu)" "13" "0000452309" "00014206" "10" "1078" "47" "1078" "47" "c.1078+47T>C" "r.(=)" "p.=" "3" "0000452310" "00014206" "10" "1130" "17" "1130" "17" "c.1130+17G>A" "r.(=)" "p.=" "4" "0000452311" "00014206" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.=" "5" "0000452312" "00014206" "10" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "5" "0000452313" "00014206" "10" "1210" "0" "1210" "0" "c.1210T>C" "r.(?)" "p.=" "5" "0000452314" "00014206" "10" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "10" "0000452315" "00014206" "10" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Ser691Asn)" "11" "0000452316" "00014206" "10" "2120" "0" "2120" "0" "c.2120G>A" "r.(?)" "p.(Ser707Asn)" "11" "0000452317" "00014206" "10" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "11" "0000452318" "00014206" "10" "2565" "-21" "2565" "-21" "c.2565-21A>G" "r.(=)" "p.=" "12" "0000452319" "00014206" "10" "2886" "0" "2886" "0" "c.2886C>T" "r.(?)" "p.=" "13" "0000452320" "00014206" "10" "2926" "-30" "2926" "-30" "c.2926-30A>G" "r.(=)" "p.=" "14" "0000452321" "00014206" "10" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(Pro1135Thr)" "17" "0000452322" "00014206" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.Gln529*" "9" "0000452323" "00014206" "70" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.Tyr20Cys" "2" "0000452324" "00014206" "90" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.Tyr20Cys" "2" "0000452325" "00014206" "90" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.Val1195Met" "18" "0000452326" "00014206" "90" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.Pro1112Leu" "17" "0000452327" "00014206" "50" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.Arg1088His" "16" "0000452328" "00014206" "50" "1575" "0" "1575" "0" "c.(1575A>G)" "r.(?)" "p.(=)" "9" "0000540329" "00014206" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000540330" "00014206" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000540331" "00014206" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000540332" "00014206" "30" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000540333" "00014206" "30" "65" "0" "65" "0" "c.65C>G" "r.(?)" "p.(Ala22Gly)" "" "0000540334" "00014206" "50" "65" "0" "65" "0" "c.65C>G" "r.(?)" "p.(Ala22Gly)" "" "0000540335" "00014206" "50" "70" "0" "70" "0" "c.70del" "r.(?)" "p.(Thr24ProfsTer44)" "" "0000540336" "00014206" "50" "80" "0" "80" "0" "c.80G>C" "r.(?)" "p.(Arg27Pro)" "" "0000540337" "00014206" "50" "103" "0" "103" "0" "c.103G>T" "r.(?)" "p.(Ala35Ser)" "" "0000540338" "00014206" "30" "103" "0" "103" "0" "c.103G>T" "r.(?)" "p.(Ala35Ser)" "" "0000540339" "00014206" "30" "103" "0" "103" "0" "c.103G>T" "r.(?)" "p.(Ala35Ser)" "" "0000540340" "00014206" "30" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Ala35=)" "" "0000540341" "00014206" "30" "138" "0" "138" "0" "c.138T>C" "r.(?)" "p.(Ser46=)" "" "0000540342" "00014206" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Ser)" "" "0000540343" "00014206" "50" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(Ser68Arg)" "" "0000540344" "00014206" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asn84Ser)" "" "0000540345" "00014206" "30" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Pro109Leu)" "" "0000540346" "00014206" "50" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "" "0000540347" "00014206" "30" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "" "0000540348" "00014206" "30" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "" "0000540349" "00014206" "50" "444" "0" "444" "0" "c.444dup" "r.(?)" "p.(Val149SerfsTer5)" "" "0000540350" "00014206" "10" "465" "0" "465" "0" "c.465C>A" "r.(?)" "p.(Ala155=)" "" "0000540351" "00014206" "10" "465" "0" "465" "0" "c.465C>G" "r.(?)" "p.(Ala155=)" "" "0000540352" "00014206" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Ala155=)" "" "0000540353" "00014206" "30" "602" "0" "602" "0" "c.602A>C" "r.(?)" "p.(Asp201Ala)" "" "0000540354" "00014206" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Ala217Thr)" "" "0000540355" "00014206" "30" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Arg220=)" "" "0000540356" "00014206" "30" "662" "0" "662" "0" "c.662A>T" "r.(?)" "p.(Asp221Val)" "" "0000540357" "00014206" "30" "734" "0" "734" "0" "c.734C>G" "r.(?)" "p.(Ala245Gly)" "" "0000540358" "00014206" "30" "734" "0" "734" "0" "c.734C>G" "r.(?)" "p.(Ala245Gly)" "" "0000540359" "00014206" "30" "734" "0" "734" "0" "c.734C>G" "r.(?)" "p.(Ala245Gly)" "" "0000540360" "00014206" "30" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Gly253Arg)" "" "0000540361" "00014206" "70" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "" "0000540362" "00014206" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Glu282Gly)" "" "0000540363" "00014206" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Glu282Gly)" "" "0000540364" "00014206" "30" "903" "-6735" "903" "-6735" "c.903-6735C>T" "r.(=)" "p.(=)" "" "0000540365" "00014206" "30" "903" "-6665" "903" "-6661" "c.903-6665_903-6661del" "r.(=)" "p.(=)" "" "0000540366" "00014206" "30" "903" "-18" "903" "-18" "c.903-18A>T" "r.(=)" "p.(=)" "" "0000540367" "00014206" "30" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Ala329Val)" "" "0000540368" "00014206" "50" "1046" "0" "1046" "0" "c.1046C>A" "r.(?)" "p.(Thr349Lys)" "" "0000540369" "00014206" "50" "1074" "0" "1074" "0" "c.1074A>T" "r.(?)" "p.(Ile358=)" "" "0000540370" "00014206" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Gly368=)" "" "0000540371" "00014206" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000540372" "00014206" "30" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000540373" "00014206" "30" "1131" "-3" "1131" "-3" "c.1131-3C>A" "r.spl?" "p.?" "" "0000540374" "00014206" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ile378=)" "" "0000540375" "00014206" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ile378=)" "" "0000540376" "00014206" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ile378=)" "" "0000540377" "00014206" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ile378=)" "" "0000540378" "00014206" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ile378=)" "" "0000540380" "00014206" "30" "1236" "0" "1236" "0" "c.1236C>A" "r.(?)" "p.(Thr412=)" "" "0000540381" "00014206" "30" "1246" "-11" "1246" "-11" "c.1246-11C>T" "r.(=)" "p.(=)" "" "0000540382" "00014206" "30" "1246" "-7" "1246" "-7" "c.1246-7C>T" "r.(=)" "p.(=)" "" "0000540383" "00014206" "30" "1293" "0" "1293" "0" "c.1293C>A" "r.(?)" "p.(Ile431=)" "" "0000540384" "00014206" "50" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Pro464Ser)" "" "0000540385" "00014206" "50" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Gly472Glu)" "" "0000540386" "00014206" "10" "1460" "-14" "1460" "-14" "c.1460-14T>A" "r.(=)" "p.(=)" "" "0000540387" "00014206" "50" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Arg489Gln)" "" "0000540388" "00014206" "30" "1483" "6" "1483" "6" "c.1483+6G>A" "r.(=)" "p.(=)" "" "0000540389" "00014206" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Val532Met)" "" "0000540390" "00014206" "10" "1662" "0" "1662" "0" "c.1662A>C" "r.(?)" "p.(Ala554=)" "" "0000540391" "00014206" "30" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Lys575=)" "" "0000540392" "00014206" "50" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asn586Ser)" "" "0000540393" "00014206" "50" "1760" "0" "1760" "0" "c.1760A>G" "r.(?)" "p.(Glu587Gly)" "" "0000540395" "00014206" "30" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597His)" "" "0000540396" "00014206" "50" "1830" "0" "1830" "0" "c.1830A>C" "r.(?)" "p.(Glu610Asp)" "" "0000540397" "00014206" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Ser613=)" "" "0000540398" "00014206" "30" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Glu614Lys)" "" "0000540399" "00014206" "10" "1869" "0" "1869" "0" "c.1869C>A" "r.(?)" "p.(Thr623=)" "" "0000540400" "00014206" "50" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000540401" "00014206" "10" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Pro645=)" "" "0000540402" "00014206" "10" "1935" "0" "1935" "0" "c.1935C>T" "r.(?)" "p.(Pro645=)" "" "0000540403" "00014206" "50" "1936" "0" "1936" "0" "c.1936G>A" "r.(?)" "p.(Val646Met)" "" "0000540404" "00014206" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Glu648=)" "" "0000540405" "00014206" "10" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Ser691Asn)" "" "0000540406" "00014206" "30" "2079" "0" "2079" "0" "c.2079T>A" "r.(?)" "p.(Thr693=)" "" "0000540407" "00014206" "10" "2163" "0" "2163" "0" "c.2163C>A" "r.(?)" "p.(Ala721=)" "" "0000540408" "00014206" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Thr730=)" "" "0000540409" "00014206" "30" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Ala734Thr)" "" "0000540410" "00014206" "30" "2228" "0" "2228" "0" "c.2228C>T" "r.(?)" "p.(Pro743Leu)" "" "0000540411" "00014206" "30" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Pro743=)" "" "0000540412" "00014206" "50" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Pro768Ser)" "" "0000540413" "00014206" "30" "2389" "0" "2389" "0" "c.2389T>C" "r.(?)" "p.(Phe797Leu)" "" "0000540414" "00014206" "10" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "" "0000540415" "00014206" "30" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Arg)" "" "0000540416" "00014206" "10" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Arg)" "" "0000540417" "00014206" "10" "2447" "0" "2447" "0" "c.2447C>T" "r.(?)" "p.(Pro816Leu)" "" "0000540418" "00014206" "30" "2451" "0" "2451" "0" "c.2451C>T" "r.(?)" "p.(Val817=)" "" "0000540419" "00014206" "50" "2468" "0" "2468" "0" "c.2468T>C" "r.(?)" "p.(Ile823Thr)" "" "0000540420" "00014206" "30" "2563" "0" "2563" "0" "c.2563A>C" "r.(?)" "p.(Met855Leu)" "" "0000540421" "00014206" "10" "2565" "-21" "2565" "-21" "c.2565-21A>G" "r.(=)" "p.(=)" "" "0000540422" "00014206" "30" "2565" "-8" "2565" "-8" "c.2565-8T>A" "r.(=)" "p.(=)" "" "0000540423" "00014206" "50" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "" "0000540424" "00014206" "50" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "" "0000540425" "00014206" "30" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "" "0000540427" "00014206" "30" "2704" "-18" "2704" "-18" "c.2704-18C>T" "r.(=)" "p.(=)" "" "0000540428" "00014206" "50" "2726" "0" "2726" "0" "c.2726A>C" "r.(?)" "p.(Glu909Ala)" "" "0000540429" "00014206" "30" "2737" "0" "2737" "0" "c.2737A>C" "r.(?)" "p.(Met913Leu)" "" "0000540430" "00014206" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919His)" "" "0000540432" "00014206" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Glu931Lys)" "" "0000540433" "00014206" "30" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000540434" "00014206" "50" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000540435" "00014206" "50" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000540436" "00014206" "30" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000540437" "00014206" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000540438" "00014206" "30" "2880" "0" "2880" "0" "c.2880T>G" "r.(?)" "p.(Ser960=)" "" "0000540439" "00014206" "30" "2949" "0" "2949" "0" "c.2949G>A" "r.(?)" "p.(Lys983=)" "" "0000540440" "00014206" "50" "2981" "0" "2981" "0" "c.2981T>C" "r.(?)" "p.(Met994Thr)" "" "0000540442" "00014206" "50" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Asp1014Asn)" "" "0000540443" "00014206" "30" "3075" "5" "3075" "13" "c.3075+5_3075+13del" "r.spl?" "p.?" "" "0000540444" "00014206" "10" "3075" "21" "3075" "21" "c.3075+21G>A" "r.(=)" "p.(=)" "" "0000540447" "00014206" "90" "3127" "0" "3127" "0" "c.3127del" "r.(?)" "p.(Ser1043ValfsTer3)" "" "0000540448" "00014206" "50" "3160" "0" "3160" "0" "c.3160G>A" "r.(?)" "p.(Gly1054Arg)" "" "0000540449" "00014206" "50" "3185" "0" "3185" "0" "c.3185A>T" "r.(?)" "p.(Asp1062Val)" "" "0000540450" "00014206" "10" "3279" "0" "3279" "0" "c.3279C>T" "r.(?)" "p.(Asp1093=)" "" "0000540451" "00014206" "50" "3314" "0" "3314" "0" "c.3314C>T" "r.(?)" "p.(Thr1105Ile)" "" "0000540452" "00014206" "10" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "" "0000540453" "00014206" "30" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "" "0000540455" "00014206" "30" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "" "0000540456" "00014206" "30" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "" "0000540457" "00014206" "50" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Gly1127Arg)" "" "0000540458" "00014206" "10" "3403" "0" "3403" "0" "c.3403C>A" "r.(?)" "p.(Pro1135Thr)" "" "0000540459" "00014206" "30" "3420" "0" "3420" "0" "c.3420C>T" "r.(?)" "p.(Asp1140=)" "" "0000540460" "00014206" "50" "3440" "0" "3440" "0" "c.3440T>A" "r.(?)" "p.(Ile1147Asn)" "" "0000540462" "00014206" "30" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(Thr1152=)" "" "0000540463" "00014206" "10" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Leu1161Ile)" "" "0000540464" "00014206" "30" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Leu1161Ile)" "" "0000540465" "00014206" "30" "3564" "0" "3564" "0" "c.3564C>T" "r.(?)" "p.(Pro1188=)" "" "0000540466" "00014206" "30" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Val1195Met)" "" "0000540467" "00014206" "30" "3659" "8" "3659" "8" "c.3659+8A>G" "r.(=)" "p.(=)" "" "0000540468" "00014206" "30" "3659" "8" "3659" "8" "c.3659+8A>G" "r.(=)" "p.(=)" "" "0000540469" "00014206" "30" "3660" "-19" "3660" "-19" "c.3660-19A>T" "r.(=)" "p.(=)" "" "0000540470" "00014206" "10" "3711" "0" "3711" "0" "c.3711G>A" "r.(?)" "p.(Lys1237=)" "" "0000540471" "00014206" "30" "3711" "0" "3711" "0" "c.3711G>A" "r.(?)" "p.(Lys1237=)" "" "0000540472" "00014206" "30" "3711" "0" "3711" "0" "c.3711G>A" "r.(?)" "p.(Lys1237=)" "" "0000540473" "00014206" "10" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(Asp1240=)" "" "0000540474" "00014206" "30" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(Asp1240=)" "" "0000540475" "00014206" "30" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(Asp1240=)" "" "0000540476" "00014206" "30" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(Asp1240=)" "" "0000540477" "00014206" "30" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(Asp1240=)" "" "0000540478" "00014206" "50" "3738" "0" "3738" "0" "c.3738G>C" "r.(?)" "p.(Leu1246Phe)" "" "0000540479" "00014206" "30" "3792" "0" "3792" "0" "c.3792C>T" "r.(?)" "p.(Tyr1264=)" "" "0000540480" "00014206" "30" "3793" "4" "3793" "4" "c.3793+4A>G" "r.spl?" "p.?" "" "0000540481" "00014206" "30" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Arg1278Gln)" "" "0000540483" "00014206" "50" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Arg1278Gln)" "" "0000540484" "00014206" "30" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Arg1278Gln)" "" "0000540485" "00014206" "10" "3846" "0" "3846" "0" "c.3846T>A" "r.(?)" "p.(Ser1282Arg)" "" "0000540486" "00014206" "50" "3846" "0" "3846" "0" "c.3846T>A" "r.(?)" "p.(Ser1282Arg)" "" "0000540487" "00014206" "30" "3846" "0" "3846" "0" "c.3846T>A" "r.(?)" "p.(Ser1282Arg)" "" "0000540488" "00014206" "10" "3846" "0" "3846" "0" "c.3846T>A" "r.(?)" "p.(Ser1282Arg)" "" "0000540489" "00014206" "50" "3848" "0" "3848" "0" "c.3848G>A" "r.(?)" "p.(Arg1283His)" "" "0000540490" "00014206" "50" "3911" "0" "3911" "0" "c.3911C>T" "r.(?)" "p.(Thr1304Met)" "" "0000540491" "00014206" "50" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Arg1312Trp)" "" "0000540492" "00014206" "30" "4255" "0" "4255" "0" "c.*292C>T" "r.(=)" "p.(=)" "" "0000540493" "00014206" "30" "4307" "0" "4307" "0" "c.*344G>A" "r.(=)" "p.(=)" "" "0000540494" "00014206" "50" "4747" "0" "4747" "0" "c.*784G>A" "r.(=)" "p.(=)" "" "0000540495" "00014206" "50" "4778" "0" "4778" "0" "c.*815C>T" "r.(=)" "p.(=)" "" "0000612546" "00014206" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000612547" "00014206" "30" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Pro47Leu)" "" "0000612548" "00014206" "30" "465" "0" "465" "0" "c.465C>A" "r.(?)" "p.(Ala155=)" "" "0000612549" "00014206" "30" "700" "0" "700" "0" "c.700A>G" "r.(?)" "p.(Lys234Glu)" "" "0000612550" "00014206" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Trp)" "" "0000612551" "00014206" "10" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(Pro281=)" "" "0000612552" "00014206" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Gly368=)" "" "0000612553" "00014206" "50" "1345" "0" "1345" "0" "c.1345G>T" "r.(?)" "p.(Gly449Cys)" "" "0000612554" "00014206" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0000612555" "00014206" "50" "1469" "0" "1469" "0" "c.1469C>G" "r.(?)" "p.(Ser490Cys)" "" "0000612556" "00014206" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Tyr521=)" "" "0000612557" "00014206" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Tyr521=)" "" "0000612558" "00014206" "30" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Asn633=)" "" "0000612559" "00014206" "30" "2092" "0" "2092" "0" "c.2092A>G" "r.(?)" "p.(Asn698Asp)" "" "0000612560" "00014206" "50" "2171" "0" "2171" "0" "c.2171A>T" "r.(?)" "p.(Lys724Met)" "" "0000612561" "00014206" "50" "2228" "0" "2228" "0" "c.2228C>A" "r.(?)" "p.(Pro743Gln)" "" "0000612562" "00014206" "50" "2294" "0" "2294" "0" "c.2294T>G" "r.(?)" "p.(Val765Gly)" "" "0000612563" "00014206" "30" "2565" "-8" "2565" "-8" "c.2565-8T>A" "r.(=)" "p.(=)" "" "0000612564" "00014206" "30" "2582" "0" "2582" "0" "c.2582C>T" "r.(?)" "p.(Ala861Val)" "" "0000612565" "00014206" "50" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "" "0000612566" "00014206" "30" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000612567" "00014206" "50" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000612568" "00014206" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Gly959=)" "" "0000612569" "00014206" "30" "3076" "-3" "3076" "-3" "c.3076-3C>T" "r.spl?" "p.?" "" "0000612570" "00014206" "10" "3078" "0" "3078" "0" "c.3078G>A" "r.(?)" "p.(Gly1026=)" "" "0000612571" "00014206" "50" "3095" "0" "3095" "0" "c.3095G>T" "r.(?)" "p.(Gly1032Val)" "" "0000612572" "00014206" "30" "3122" "0" "3122" "0" "c.3122T>A" "r.(?)" "p.(Ile1041Asn)" "" "0000612574" "00014206" "50" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Ter)" "" "0000612575" "00014206" "10" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "" "0000612576" "00014206" "30" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Gly1127Arg)" "" "0000612577" "00014206" "30" "3405" "0" "3405" "0" "c.3405A>T" "r.(?)" "p.(Pro1135=)" "" "0000612578" "00014206" "30" "3493" "6" "3493" "6" "c.3493+6G>A" "r.(=)" "p.(=)" "" "0000612579" "00014206" "30" "3735" "0" "3735" "0" "c.3735G>A" "r.(?)" "p.(Thr1245=)" "" "0000612580" "00014206" "30" "3794" "-5" "3794" "-5" "c.3794-5dup" "r.spl?" "p.?" "" "0000612581" "00014206" "50" "3832" "0" "3832" "0" "c.3832C>T" "r.(?)" "p.(Arg1278Trp)" "" "0000612582" "00014206" "30" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Arg1278Gln)" "" "0000622399" "00014206" "50" "83" "0" "83" "0" "c.83G>C" "r.(?)" "p.(Gly28Ala)" "" "0000622400" "00014206" "10" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597His)" "" "0000622401" "00014206" "30" "3417" "0" "3417" "0" "c.3417C>G" "r.(?)" "p.(Arg1139=)" "" "0000622402" "00014206" "10" "3494" "-14" "3494" "-14" "c.3494-14del" "r.(=)" "p.(=)" "" "0000647943" "00014206" "10" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "" "0000647944" "00014206" "50" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Arg489Gln)" "" "0000647946" "00014206" "50" "3263" "0" "3263" "0" "c.3263G>A" "r.(?)" "p.(Arg1088His)" "" "0000647948" "00014206" "50" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Val1195Met)" "" "0000652973" "00014206" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919His)" "" "0000656516" "00014206" "30" "259" "0" "259" "0" "c.259C>G" "r.(?)" "p.(Pro87Ala)" "" "0000656517" "00014206" "30" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Arg220=)" "" "0000656518" "00014206" "50" "757" "0" "757" "0" "c.757G>C" "r.(?)" "p.(Gly253Arg)" "" "0000656519" "00014206" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Ser)" "" "0000656520" "00014206" "30" "1662" "0" "1662" "0" "c.1662A>C" "r.(?)" "p.(Ala554=)" "" "0000656521" "00014206" "50" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Thr717Met)" "" "0000656522" "00014206" "50" "2468" "0" "2468" "0" "c.2468T>C" "r.(?)" "p.(Ile823Thr)" "" "0000656523" "00014206" "90" "2564" "1" "2564" "1" "c.2564+1G>C" "r.spl?" "p.?" "" "0000656524" "00014206" "50" "3305" "0" "3305" "0" "c.3305C>T" "r.(?)" "p.(Pro1102Leu)" "" "0000656525" "00014206" "50" "3913" "0" "3913" "0" "c.3913A>G" "r.(?)" "p.(Met1305Val)" "" "0000669071" "00014206" "10" "1178" "0" "1178" "0" "c.1178T>C" "r.(?)" "p.(Val393Ala)" "" "0000678867" "00014206" "10" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Pro268Ser)" "" "0000678868" "00014206" "30" "1194" "0" "1194" "0" "c.1194A>G" "r.(?)" "p.(Val398=)" "" "0000678869" "00014206" "50" "1318" "0" "1318" "0" "c.1318A>C" "r.(?)" "p.(Met440Leu)" "" "0000678870" "00014206" "10" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Glu467Lys)" "" "0000678871" "00014206" "30" "1722" "0" "1722" "0" "c.1722C>A" "r.(?)" "p.(Pro574=)" "" "0000678872" "00014206" "30" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Leu785Phe)" "" "0000678873" "00014206" "30" "2362" "0" "2362" "0" "c.2362G>C" "r.(?)" "p.(Gly788Arg)" "" "0000678874" "00014206" "30" "3417" "0" "3417" "0" "c.3417C>G" "r.(?)" "p.(Arg1139=)" "" "0000678875" "00014206" "30" "3913" "0" "3913" "0" "c.3913A>G" "r.(?)" "p.(Met1305Val)" "" "0000690741" "00014206" "50" "903" "-6226" "903" "-6226" "c.903-6226G>A" "r.(=)" "p.(=)" "" "0000690742" "00014206" "30" "2088" "0" "2088" "0" "c.2088C>T" "r.(?)" "p.(Asn696=)" "" "0000690743" "00014206" "50" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Pro728Leu)" "" "0000690744" "00014206" "50" "2409" "0" "2409" "0" "c.2409C>A" "r.(?)" "p.(Ser803Arg)" "" "0000690745" "00014206" "50" "3299" "0" "3299" "0" "c.3299C>T" "r.(?)" "p.(Pro1100Leu)" "" "0000690746" "00014206" "10" "3493" "6" "3493" "6" "c.3493+6G>T" "r.(=)" "p.(=)" "" "0000690747" "00014206" "50" "3721" "0" "3721" "0" "c.3721G>A" "r.(?)" "p.(Ala1241Thr)" "" "0000690748" "00014206" "30" "3913" "0" "3913" "0" "c.3913A>G" "r.(?)" "p.(Met1305Val)" "" "0000701778" "00014206" "50" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Val1195Met)" "" "0000722873" "00014206" "30" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Glu374=)" "" "0000722874" "00014206" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000722875" "00014206" "10" "1130" "17" "1130" "17" "c.1130+17G>A" "r.(=)" "p.(=)" "" "0000722876" "00014206" "10" "1245" "17" "1245" "17" "c.1245+17G>A" "r.(=)" "p.(=)" "" "0000722877" "00014206" "10" "1605" "0" "1605" "0" "c.1605T>C" "r.(?)" "p.(Asn535=)" "" "0000722878" "00014206" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Cys)" "" "0000722879" "00014206" "50" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Pro768Ser)" "" "0000722880" "00014206" "10" "2583" "0" "2583" "0" "c.2583G>A" "r.(?)" "p.(Ala861=)" "" "0000722881" "00014206" "50" "3029" "0" "3029" "0" "c.3029C>T" "r.(?)" "p.(Thr1010Ile)" "" "0000722882" "00014206" "30" "3231" "0" "3231" "0" "c.3231G>A" "r.(?)" "p.(Gln1077=)" "" "0000722883" "00014206" "10" "3659" "16" "3659" "16" "c.3659+16C>T" "r.(=)" "p.(=)" "" "0000722884" "00014206" "30" "3672" "0" "3672" "0" "c.3672C>T" "r.(?)" "p.(Asp1224=)" "" "0000722885" "00014206" "30" "3825" "0" "3825" "0" "c.3825G>A" "r.(?)" "p.(Met1275Ile)" "" "0000804480" "00014206" "30" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Leu21=)" "" "0000804481" "00014206" "70" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Trp302*)" "" "0000804482" "00014206" "30" "1053" "0" "1053" "0" "c.1053G>A" "r.(?)" "p.(Ser351=)" "" "0000804483" "00014206" "50" "1130" "3" "1130" "3" "c.1130+3A>C" "r.spl?" "p.?" "" "0000804484" "00014206" "50" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Arg489Gln)" "" "0000804485" "00014206" "50" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ser660Cys)" "" "0000804486" "00014206" "50" "2540" "0" "2540" "0" "c.2540G>A" "r.(?)" "p.(Gly847Glu)" "" "0000804487" "00014206" "50" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "" "0000804488" "00014206" "10" "3076" "-17" "3076" "-17" "c.3076-17C>T" "r.(=)" "p.(=)" "" "0000804489" "00014206" "10" "3078" "0" "3078" "0" "c.3078G>A" "r.(?)" "p.(Gly1026=)" "" "0000804490" "00014206" "50" "3320" "0" "3320" "0" "c.3320T>A" "r.(?)" "p.(Leu1107Gln)" "" "0000804491" "00014206" "30" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Val1195Met)" "" "0000804492" "00014206" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Gly1285Arg)" "" "0000852526" "00014206" "50" "172" "0" "172" "0" "c.172G>C" "r.(?)" "p.(Asp58His)" "" "0000852527" "00014206" "10" "903" "-18" "903" "-18" "c.903-18A>T" "r.(=)" "p.(=)" "" "0000852528" "00014206" "10" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Asp369=)" "" "0000852529" "00014206" "30" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Val583=)" "" "0000852530" "00014206" "50" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Arg996Gln)" "" "0000852531" "00014206" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Gly1285Arg)" "" "0000861943" "00014206" "50" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Thr336Ile)" "" "0000861944" "00014206" "50" "2540" "0" "2540" "0" "c.2540G>A" "r.(?)" "p.(Gly847Glu)" "" "0000861945" "00014206" "10" "3456" "0" "3456" "0" "c.3456C>T" "r.(?)" "p.(Thr1152=)" "" "0000861946" "00014206" "30" "3792" "0" "3792" "0" "c.3792C>T" "r.(?)" "p.(Tyr1264=)" "" "0000861947" "00014206" "50" "3793" "0" "3793" "0" "c.3793G>A" "r.(?)" "p.(Ala1265Thr)" "" "0000861948" "00014206" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Gly1285Arg)" "" "0000861949" "00014206" "50" "3880" "0" "3880" "0" "c.3880A>G" "r.(?)" "p.(Ile1294Val)" "" "0000879763" "00014206" "50" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Pro1112Leu)" "" "0000889185" "00014206" "50" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ser75Gly)" "" "0000889186" "00014206" "50" "625" "0" "625" "0" "c.625T>G" "r.(?)" "p.(Ser209Ala)" "" "0000889187" "00014206" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Glu282Gly)" "" "0000889188" "00014206" "30" "1245" "20" "1245" "20" "c.1245+20A>G" "r.(=)" "p.(=)" "" "0000889189" "00014206" "30" "1293" "0" "1293" "0" "c.1293C>A" "r.(?)" "p.(Ile431=)" "" "0000889190" "00014206" "50" "1635" "0" "1635" "0" "c.1635C>G" "r.(?)" "p.(His545Gln)" "" "0000889191" "00014206" "50" "1858" "0" "1858" "0" "c.1858A>G" "r.(?)" "p.(Thr620Ala)" "" "0000889192" "00014206" "10" "2703" "17" "2703" "19" "c.2703+17_2703+19del" "r.(=)" "p.(=)" "" "0000889193" "00014206" "10" "2703" "20" "2703" "20" "c.2703+20A>C" "r.(=)" "p.(=)" "" "0000889194" "00014206" "50" "3074" "0" "3074" "0" "c.3074A>G" "r.(?)" "p.(Gln1025Arg)" "" "0000889195" "00014206" "10" "3159" "-5" "3159" "-5" "c.3159-5T>C" "r.spl?" "p.?" "" "0000889196" "00014206" "50" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Gly1127Arg)" "" "0000889197" "00014206" "10" "3678" "0" "3678" "0" "c.3678A>G" "r.(?)" "p.(Thr1226=)" "" "0000889198" "00014206" "10" "3963" "0" "3963" "0" "c.3963A>G" "r.(?)" "p.(*1321=)" "" "0000913294" "00014206" "50" "886" "0" "886" "0" "c.886C>G" "r.(?)" "p.(Pro296Ala)" "" "0000913295" "00014206" "10" "1130" "17" "1130" "17" "c.1130+17G>A" "r.(=)" "p.(=)" "" "0000913296" "00014206" "10" "1245" "17" "1245" "17" "c.1245+17G>A" "r.(=)" "p.(=)" "" "0000913297" "00014206" "10" "1246" "-41" "1246" "-41" "c.1246-41T>C" "r.(=)" "p.(=)" "" "0000913298" "00014206" "10" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(Ser549=)" "" "0000913299" "00014206" "50" "1727" "0" "1727" "0" "c.1727C>G" "r.(?)" "p.(Pro576Arg)" "" "0000913300" "00014206" "10" "1869" "0" "1869" "0" "c.1869C>A" "r.(?)" "p.(Thr623=)" "" "0000913301" "00014206" "10" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Pro625=)" "" "0000913302" "00014206" "10" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "" "0000913303" "00014206" "50" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Glu630Lys)" "" "0000913304" "00014206" "10" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Ser691Asn)" "" "0000913305" "00014206" "10" "2120" "0" "2120" "0" "c.2120G>A" "r.(?)" "p.(Ser707Asn)" "" "0000913306" "00014206" "10" "2409" "0" "2409" "0" "c.2409C>G" "r.(?)" "p.(Ser803Arg)" "" "0000925170" "00014206" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Val318Ile)" "" "0000925171" "00014206" "50" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Glu614Lys)" "" "0000925172" "00014206" "50" "3127" "0" "3127" "0" "c.3127del" "r.(?)" "p.(Ser1043ValfsTer3)" "" "0000925173" "00014206" "10" "3493" "10" "3493" "10" "c.3493+10G>T" "r.(=)" "p.(=)" "" "0000925174" "00014206" "50" "3825" "0" "3825" "0" "c.3825G>A" "r.(?)" "p.(Met1275Ile)" "" "0000929687" "00014206" "50" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338His)" "" "0000929688" "00014206" "10" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(=)" "" "0000929689" "00014206" "10" "2709" "0" "2709" "0" "c.2709C>T" "r.(?)" "p.(=)" "" "0000929690" "00014206" "10" "3659" "8" "3659" "8" "c.3659+8A>G" "r.(=)" "p.(=)" "" "0000949419" "00014206" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Val532Met)" "" "0000949420" "00014206" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919His)" "" "0000949421" "00014206" "10" "2925" "20" "2925" "20" "c.2925+20A>C" "r.(=)" "p.(=)" "" "0000949422" "00014206" "50" "3059" "0" "3059" "0" "c.3059T>C" "r.(?)" "p.(Met1020Thr)" "" "0000949423" "00014206" "50" "3074" "0" "3074" "0" "c.3074A>G" "r.(?)" "p.(Gln1025Arg)" "" "0000949424" "00014206" "50" "3476" "0" "3476" "0" "c.3476T>A" "r.(?)" "p.(Leu1159Gln)" "" "0000957732" "00014206" "70" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Gly542Arg)" "" "0000957733" "00014206" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Val532Met)" "" "0000957794" "00014206" "70" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000957825" "00014206" "70" "2030" "0" "2030" "0" "c.2030T>G" "r.(?)" "p.(Leu677Trp)" "" "0000957862" "00014206" "70" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Trp)" "" "0000957888" "00014206" "50" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Arg1042Cys)" "" "0000957905" "00014206" "70" "3959" "0" "3959" "0" "c.3959T>C" "r.(?)" "p.(Leu1320Pro)" "" "0000965782" "00014206" "50" "233" "0" "233" "0" "c.233T>A" "r.(?)" "p.(Leu78*)" "" "0000965783" "00014206" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(=)" "" "0000965785" "00014206" "50" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Pro435Ser)" "" "0000965786" "00014206" "50" "2312" "0" "2312" "0" "c.2312A>G" "r.(?)" "p.(Gln771Arg)" "" "0000965787" "00014206" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057Gln)" "" "0000979080" "00014206" "30" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Pro268Ser)" "" "0000979081" "00014206" "10" "2151" "0" "2151" "0" "c.2151G>A" "r.(?)" "p.(=)" "" "0000979082" "00014206" "50" "2321" "0" "2321" "0" "c.2321C>A" "r.(?)" "p.(Ser774Tyr)" "" "0000979083" "00014206" "90" "2557" "0" "2563" "0" "c.2557_2563del" "r.(?)" "p.(Pro853Cysfs*6)" "" "0000979084" "00014206" "50" "3504" "0" "3504" "0" "c.3504G>A" "r.(?)" "p.(=)" "" "0000979085" "00014206" "10" "3660" "-14" "3660" "-14" "c.3660-14C>T" "r.(=)" "p.(=)" "" "0000979086" "00014206" "10" "3793" "7" "3793" "7" "c.3793+7G>A" "r.(=)" "p.(=)" "" "0000979087" "00014206" "50" "3872" "0" "3872" "0" "c.3872G>C" "r.(?)" "p.(Gly1291Ala)" "" "0000989651" "00014206" "50" "2453" "0" "2453" "0" "c.2453C>T" "r.(?)" "p.(Ser818Phe)" "" "0000998448" "00014206" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000998449" "00014206" "50" "444" "0" "444" "0" "c.444dup" "r.(?)" "p.(Val149SerfsTer5)" "" "0000998450" "00014206" "30" "809" "0" "809" "0" "c.809G>C" "r.(?)" "p.(Arg270Pro)" "" "0000998451" "00014206" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "" "0000998452" "00014206" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597His)" "" "0000998453" "00014206" "50" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Gly616Asp)" "" "0000998454" "00014206" "50" "2654" "0" "2654" "0" "c.2654G>A" "r.(?)" "p.(Arg885Gln)" "" "0000998455" "00014206" "50" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922Cys)" "" "0000998456" "00014206" "50" "2834" "0" "2834" "0" "c.2834C>T" "r.(?)" "p.(Pro945Leu)" "" "0000998457" "00014206" "30" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Arg955Gln)" "" "0000998458" "00014206" "50" "2982" "0" "2982" "0" "c.2982G>T" "r.(?)" "p.(Met994Ile)" "" "0000998459" "00014206" "50" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Asp1014Asn)" "" "0000998460" "00014206" "50" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Gly1182Ser)" "" "0000998461" "00014206" "30" "3562" "0" "3562" "0" "c.3562C>G" "r.(?)" "p.(Pro1188Ala)" "" "0001014643" "00014206" "50" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Arg470Gly)" "" "0001014644" "00014206" "50" "2228" "0" "2228" "0" "c.2228C>T" "r.(?)" "p.(Pro743Leu)" "" "0001025758" "00014206" "50" "2147" "0" "2147" "0" "c.2147A>G" "r.(?)" "p.(Gln716Arg)" "" "0001025759" "00014206" "50" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Arg1278Gln)" "" "0001037945" "00014206" "30" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0001037946" "00014206" "50" "3305" "0" "3305" "0" "c.3305C>T" "r.(?)" "p.(Pro1102Leu)" "" "0001045110" "00014206" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Gly1285Arg)" "" "0001046240" "00014206" "50" "3271" "0" "3271" "0" "c.3271C>T" "r.(?)" "p.(Arg1091Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 126 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012848" "0000016264" "0000036029" "0000044031" "0000071838" "0000058432" "0000088994" "0000144629" "0000235439" "0000164748" "0000368329" "0000184371" "0000408466" "0000213625" "0000446169" "0000213626" "0000446170" "0000213626" "0000446171" "0000213627" "0000446172" "0000217931" "0000452225" "0000217932" "0000452226" "0000217933" "0000452227" "0000217934" "0000452228" "0000217935" "0000452229" "0000217936" "0000452230" "0000217937" "0000452231" "0000217938" "0000452232" "0000217939" "0000452233" "0000217940" "0000452234" "0000217941" "0000452235" "0000217942" "0000452236" "0000217943" "0000452237" "0000217944" "0000452238" "0000217945" "0000452239" "0000217946" "0000452240" "0000217947" "0000452241" "0000217948" "0000452242" "0000217949" "0000452243" "0000217950" "0000452244" "0000217951" "0000452245" "0000217952" "0000452246" "0000217953" "0000452247" "0000217954" "0000452248" "0000217955" "0000452249" "0000217956" "0000452250" "0000217957" "0000452251" "0000217958" "0000452252" "0000217959" "0000452253" "0000217960" "0000452254" "0000217961" "0000452255" "0000217962" "0000452256" "0000217962" "0000452257" "0000217963" "0000452258" "0000217964" "0000452259" "0000217965" "0000452260" "0000217966" "0000452261" "0000217967" "0000452262" "0000217968" "0000452263" "0000217969" "0000452264" "0000217970" "0000452265" "0000217971" "0000452266" "0000217972" "0000452267" "0000217973" "0000452268" "0000217974" "0000452269" "0000217975" "0000452270" "0000217976" "0000452271" "0000217977" "0000452272" "0000217978" "0000452273" "0000217979" "0000452274" "0000217980" "0000452275" "0000217981" "0000452276" "0000217982" "0000452277" "0000217983" "0000452278" "0000217984" "0000452279" "0000217985" "0000452280" "0000217986" "0000452281" "0000217987" "0000452282" "0000217988" "0000452283" "0000217989" "0000452284" "0000217990" "0000452285" "0000217991" "0000452286" "0000217992" "0000452287" "0000217993" "0000452288" "0000217994" "0000452289" "0000217995" "0000452290" "0000217996" "0000452291" "0000217997" "0000452292" "0000217998" "0000452293" "0000217999" "0000452294" "0000218000" "0000452295" "0000218001" "0000452296" "0000218002" "0000452297" "0000218003" "0000452298" "0000218004" "0000452299" "0000218005" "0000452300" "0000218006" "0000452301" "0000218007" "0000452302" "0000218008" "0000452303" "0000218009" "0000452304" "0000218010" "0000452305" "0000218011" "0000452306" "0000218012" "0000452307" "0000218013" "0000452308" "0000218014" "0000452309" "0000218015" "0000452310" "0000218016" "0000452311" "0000218017" "0000452312" "0000218018" "0000452313" "0000218019" "0000452314" "0000218020" "0000452315" "0000218021" "0000452316" "0000218022" "0000452317" "0000218023" "0000452318" "0000218024" "0000452319" "0000218025" "0000452320" "0000218026" "0000452321" "0000218027" "0000452324" "0000218028" "0000452328" "0000291254" "0000647943" "0000291255" "0000647944" "0000291257" "0000647946" "0000291259" "0000647948" "0000296284" "0000652973" "0000297827" "0000701778" "0000305383" "0000669071" "0000419657" "0000879763" "0000448325" "0000957732" "0000448326" "0000957733" "0000448364" "0000957905" "0000448387" "0000957794" "0000448405" "0000957888" "0000448418" "0000957825" "0000448455" "0000957862" "0000454750" "0000989651"