### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNNI3) # 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}}" "TNNI3" "troponin I type 3 (cardiac)" "19" "q13.4" "unknown" "NG_007866.2" "UD_132118567012" "" "https://www.LOVD.nl/TNNI3" "" "1" "11947" "7137" "191044" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TNNI3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-05-01 00:00:00" "00006" "2018-03-02 22:03:17" "00000" "2026-01-20 18:57:21" ## 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}}" "00021595" "TNNI3" "troponin I type 3 (cardiac)" "001" "NM_000363.4" "" "NP_000354.4" "" "" "" "-143" "700" "633" "55669100" "55663135" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "01228" "RCM1" "cardiomyopathy, restrictive, familial, type 1 (RCM-1)" "AD" "115210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03069" "CMD2A" "cardiomyopathy, dilated, type 2A (CMD-2A)" "AR" "611880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03300" "CMD1FF" "cardiomyopathy, dilated, type 1FF (CMD-1FF)" "" "613286" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03392" "CMH7" "cardiomyopathy, hypertrophic, familial, type 7 (CMH-7)" "AD" "613690" "" "" "" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TNNI3" "01228" "TNNI3" "03069" "TNNI3" "03300" "TNNI3" "03392" ## Individuals ## Do not remove or alter this header ## ## Count = 253 "{{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}}" "00016140" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00064092" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064102" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064106" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064165" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064170" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064226" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00108702" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00108703" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00108704" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00108705" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00128445" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "199" "00128459" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "232" "00154520" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154521" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154522" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154523" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154524" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154525" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154526" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154527" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154528" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154529" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154530" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154531" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}, {OMIM191044:0001}" "large multigenerational Korean family" "" "" "Korea" "" "0" "" "" "" "" "00154532" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154533" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154534" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154535" "" "" "" "2" "" "00052" "{PMID:Kimura 1997:9241277}, {OMIM191044:0015}" "2-generation family, affected father/son" "" "" "Japan" "" "0" "" "" "" "" "00154536" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154537" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}" "" "" "" "Japan" "" "0" "" "" "" "" "00154538" "" "" "" "3" "" "00052" "{PMID:Kimura 1997:9241277}, {OMIM191044:0014}" "2-generation family, affected mother/son/daugther" "" "" "Japan" "" "0" "" "" "" "" "00154539" "" "" "" "1" "" "00052" "{PMID:Kimura 1997:9241277}, {OMIM191044:0002}" "" "" "" "Japan" "" "0" "" "" "" "" "00154540" "" "" "" "1" "" "00052" "{PMID:Niimura 2002:11815426}, {OMIM191044:0003}" "" "" "" "" "" "0" "" "" "" "" "00154541" "" "" "" "1" "" "00052" "{PMID:Niimura 2002:11815426}, {OMIM191044:0004}" "" "" "" "" "" "0" "" "" "" "" "00154542" "" "" "" "13" "" "00052" "{PMID:Mogensen 2003:12531876}" "4-generation family, 12 affecteds, 1 asymptomatic carrier" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154543" "" "" "" "1" "" "00006" "{PMID:Mogensen 2003:12531876}" "2-generation family, 1 affected" "" "" "" "19y" "0" "" "" "" "" "00154544" "" "" "" "1" "" "00052" "{PMID:Mogensen 2003:12531876}" "2-generation family, 1 affected" "" "" "" "" "0" "" "" "" "" "00154545" "" "" "" "1" "" "00052" "{PMID:Mogensen 2003:12531876}" "2-generation family, 1 affected" "" "" "" "" "0" "" "" "" "" "00154546" "" "" "" "1" "" "00052" "{PMID:Mogensen 2003:12531876}" "2-generation family, 1 affected" "" "" "" "" "0" "" "" "" "" "00154547" "" "" "" "1" "" "00052" "{PMID:Mogensen 2003:12531876}" "2-generation family, 1 affected" "" "" "" "" "0" "" "" "" "" "00154548" "" "" "" "1" "" "00052" "{PMID:Mogensen 2003:12531876}" "2-generation family, 1 affected" "" "" "" "" "0" "" "" "" "" "00154549" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00154550" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00154551" "" "" "" "1" "" "00052" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00154552" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00154553" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00154554" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00154555" "" "" "" "4" "" "00052" "{PMID:Morner 2000:10731450}" "3-generation family, mother (90y)/2 affected brothers (61y/64y), healthy carrier daugther (27y)" "" "" "Sweden" "" "0" "" "" "" "" "00154556" "" "" "" "1" "" "00052" "{PMID:Van Driest 2003:12860912}" "" "M" "" "United States" ">41y" "0" "" "" "" "" "00154557" "" "" "" "1" "" "00052" "{PMID:Van Driest 2003:12860912}" "" "F" "" "United States" ">76y" "0" "" "" "" "" "00154558" "" "" "" "1" "" "00052" "{PMID:Van Driest 2003:12860912}" "" "M" "" "United States" ">33y" "0" "" "" "" "" "00154559" "" "" "" "1" "" "00052" "{PMID:Van Driest 2003:12860912}" "" "F" "" "United States" ">48y" "0" "" "" "" "" "00154560" "" "" "" "1" "" "00052" "{PMID:Van Driest 2003:12860912}" "" "F" "" "United States" ">79y" "0" "" "" "" "" "00154561" "" "" "" "1" "" "00052" "{PMID:Van Driest 2003:12860912}" "" "F" "" "United States" ">21y" "0" "" "" "" "" "00154562" "" "" "" "1" "" "00052" "{PMID:Erdmann 2003:12974739}" "" "" "" "Germany" "" "0" "" "" "" "" "00154563" "" "" "" "1" "" "00052" "{PMID:Erdmann 2003:12974739}" "" "" "" "Germany" "" "0" "" "" "" "" "00154564" "" "" "" "1" "" "00052" "{PMID:Erdmann 2003:12974739}" "" "" "" "Germany" "" "0" "" "" "" "" "00154565" "" "" "" "1" "" "00052" "{PMID:Erdmann 2003:12974739}" "" "" "" "Germany" "" "0" "" "" "" "" "00154566" "" "" "" "1" "" "00052" "{PMID:Erdmann 2003:12974739}" "" "" "" "Germany" "" "0" "" "" "" "" "00154567" "" "" "" "2" "" "00052" "{PMID:Murphy 2004:15070570}, {OMIM191044:0009}" "2-generation family, affected brother/sister" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154568" "" "" "" "3" "" "00006" "{PMID:Murphy 2004:15070570}, {OMIM191044:0009}" "2-generation family, unaffected carriers" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00154569" "" "" "" "5" "" "00006" "{PMID:Mogensen 2004:15607392}" "4-generation family, 1 affecteds, 4 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154570" "" "" "" "1" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 1 affected" "" "" "Denmark" "" "0" "" "" "Arab" "" "00154571" "" "" "" "4" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 2 affected, 2 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154572" "" "" "" "10" "" "00006" "{PMID:Mogensen 2004:15607392}" "4-generation family, 3 affecteds, 7 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154573" "" "" "" "5" "" "00006" "{PMID:Mogensen 2004:15607392}" "4-generation family, 2 affecteds, 3 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154574" "" "" "" "5" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 1 affected, 4 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154575" "" "" "" "6" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 1 affected, 5 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154576" "" "" "" "4" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 2 affected, 2 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154577" "" "" "" "2" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 2 affected" "" "" "Denmark" "" "0" "" "" "white" "" "00154578" "" "" "" "11" "" "00006" "{PMID:Mogensen 2004:15607392}" "4-generation family, 4 affecteds, 7 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154579" "" "" "" "1" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 1 affected" "" "" "Denmark" "" "0" "" "" "white" "" "00154580" "" "" "" "2" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 1 affected, 1 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154581" "" "" "" "2" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 1 affected, 1 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154582" "" "" "" "3" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 3 affecteds" "" "" "Denmark" "" "0" "" "" "white" "" "00154583" "" "" "" "7" "" "00006" "{PMID:Mogensen 2004:15607392}" "4-generation family, 4 affecteds, 3 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154584" "" "" "" "4" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 1 affected, 3 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "Asian" "" "00154585" "" "" "" "5" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154586" "" "" "" "2" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 1 affected, 1 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154587" "" "" "" "4" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 2 affected, 2 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154588" "" "" "" "7" "" "00006" "{PMID:Mogensen 2004:15607392}" "4-generation family, 4 affecteds, 3 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154589" "" "" "" "1" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 1 affected" "" "" "Denmark" "" "0" "" "" "white" "" "00154590" "" "" "" "1" "" "00006" "{PMID:Mogensen 2004:15607392}" "2-generation family, 1 affected" "" "" "Denmark" "" "0" "" "" "white" "" "00154591" "" "" "" "4" "" "00006" "{PMID:Mogensen 2004:15607392}" "3-generation family, 2 affected, 2 asymptomatic carrier" "" "" "Denmark" "" "0" "" "" "white" "" "00154592" "" "" "" "1" "" "00006" "{PMID:Mogensen 2004:15607392}" "" "" "" "Denmark" "" "0" "" "" "Asian" "" "00154593" "" "" "" "1" "" "00006" "{PMID:Mogensen 2004:15607392}" "" "" "" "Denmark" "" "0" "" "" "Afro-Caribbean" "" "00154594" "" "" "" "1" "" "00006" "{PMID:Doolan 2005:15698845}" "2-generation family, 1 affected" "" "" "Australia" "" "0" "" "" "" "" "00154595" "" "" "" "3" "" "00006" "{PMID:Doolan 2005:15698845}" "3-generation family, 2 affected, 1 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154596" "" "" "" "2" "" "00006" "{PMID:Doolan 2005:15698845}" "3-generation family, 1 affected, 1 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154597" "" "" "" "5" "" "00006" "{PMID:Doolan 2005:15698845}" "4-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154598" "" "" "" "5" "" "00006" "{PMID:Doolan 2005:15698845}" "4-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154599" "" "" "" "13" "" "00006" "{PMID:Doolan 2005:15698845}" "4-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154600" "" "" "" "13" "" "00006" "{PMID:Doolan 2005:15698845}" "4-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154601" "" "" "" "12" "" "00006" "{PMID:Doolan 2005:15698845}" "4-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154602" "" "" "" "9" "" "00006" "{PMID:Doolan 2005:15698845}" "4-generation family, 3 affecteds, 2 asymptomatic carrier" "" "" "Australia" "" "0" "" "" "" "" "00154603" "" "" "" "4" "" "00052" "{PMID:Arad 2005:16267253}" "3-generation family, 7 affected, 2 asymptomatic carrier" "" "" "United States" "" "0" "" "" "" "" "00154604" "" "" "" "1" "" "00052" "{PMID:Morita 2006:16754800}" "" "" "" "United States" "" "0" "" "" "" "" "00154605" "" "" "" "1" "" "00006" "{PMID:Kostareva 2009:18006163}" "" "" "" "Russia" "" "0" "" "" "" "" "00154606" "" "" "" "2" "" "00052" "{PMID:Frazier 2008:18175163}" "2-generation family, 1 affected, daugthers carry one variant" "" "" "United States" "" "0" "" "" "African American" "" "00154607" "" "" "" "3" "" "00052" "{PMID:Frazier 2008:18175163}, {OMIM191044:0003}" "" "" "" "United States" "" "0" "" "" "African American" "" "00154608" "" "" "" "1" "" "00006" "{PMID:Kaski 2008:18467357}" "" "" "" "" "" "0" "" "" "" "" "00154609" "" "" "" "1" "" "00006" "{PMID:Kaski 2008:18467357}" "" "" "" "" "" "0" "" "" "" "" "00154610" "" "" "" "2" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, affected father, asymptomatic carrier son" "M" "" "Czech Republic" ">33y" "0" "" "" "" "" "00154611" "" "" "" "1" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, asymptomatic carrier son" "M" "" "Czech Republic" ">5y" "0" "" "" "" "" "00154612" "" "" "" "1" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, affected grandfather" "M" "" "Czech Republic" ">67y" "0" "" "" "" "" "00154613" "" "" "" "1" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, affected father" "M" "" "Czech Republic" ">42y" "0" "" "" "" "" "00154614" "" "" "" "1" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, asymptomatic carrier son" "M" "" "Czech Republic" ">9y" "0" "" "" "" "" "00154615" "" "" "" "3" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, affected mother, deceased grandmother/daugther (sudden death)" "F" "" "Czech Republic" ">54y" "0" "" "" "" "" "00154616" "" "" "" "1" "" "00006" "{PMID:Curila 2009:19645627}" "3-generation family, affected son" "M" "" "Czech Republic" ">33y" "0" "" "" "" "" "00154617" "" "" "" "1" "" "00006" "{PMID:Kaski 2009:20031618}" "" "" "" "United States" "" "0" "" "" "" "" "00154618" "" "" "" "1" "" "00006" "{PMID:Sheng 2008:19134270}" "" "M" "" "China" ">40y" "0" "" "" "" "" "00154619" "" "" "" "3" "" "00052" "{PMID:Carballo 2009:19590045}, {OMIM191044:0012}" "3-generation family, 3 affecteds, deceased grandfather" "M" "" "United States" "" "0" "" "" "" "" "00154620" "" "" "" "2" "" "00052" "{PMID:Carballo 2009:19590045}, {OMIM191044:0012}" "2-generation family, affected father (deceased)/son" "M" "" "United States" "" "0" "" "" "" "" "00154621" "" "" "" "1" "" "00052" "{PMID:Boda 2009:20086309}" "2-generation family, 1 affected" "M" "" "India" "" "0" "" "" "" "" "00154622" "" "" "" "1" "" "00052" "{PMID:Boda 2009:20086309}" "2-generation family, 1 affected" "F" "" "India" "" "0" "" "" "" "" "00154623" "" "" "" "1" "" "00052" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "" "00154624" "" "" "" "1" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "" "00154625" "" "" "" "1" "" "00052" "{PMID:Yang 2010:20569525}" "" "F" "" "(Canada)" "" "0" "" "" "" "" "00154626" "" "" "" "1" "" "00006" "{PMID:Millat 2010:20624503}" "" "" "" "France" "" "0" "" "" "" "" "00154627" "" "" "" "1" "" "00006" "{PMID:Millat 2010:20624503}" "" "" "" "France" "" "0" "" "" "" "" "00154628" "" "" "" "1" "" "00006" "{PMID:Millat 2010:20624503}" "" "" "" "France" "" "0" "" "" "" "" "00154629" "" "" "" "1" "" "00006" "{PMID:Millat 2010:20624503}" "" "" "" "France" "" "0" "" "" "" "" "00154630" "" "" "" "1" "" "00006" "{PMID:Millat 2010:20624503}" "" "" "" "France" "" "0" "" "" "" "" "00154631" "" "" "" "1" "" "00006" "{PMID:Millat 2010:20624503}" "" "" "" "France" "" "0" "" "" "" "" "00154632" "" "" "" "1" "" "00006" "{PMID:Murakami 2010:20817590}" "" "M" "" "Japan" "73y" "0" "" "" "" "" "00154633" "" "" "" "2" "" "00006" "{PMID:Murakami 2010:20817590}" "2 controls" "" "" "Japan" "" "0" "" "" "" "" "00154634" "" "" "" "25" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00154635" "" "" "" "126" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00154636" "" "" "" "8" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00154637" "" "" "" "6" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00154638" "" "" "" "5" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00154639" "" "" "" "6" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00154640" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154641" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "2y" "0" "" "" "" "" "00154642" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154643" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154644" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154645" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154646" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154647" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154648" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154649" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154650" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154651" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154652" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154653" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154654" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00154655" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154656" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154657" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154658" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154659" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154660" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154661" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154662" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154663" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154664" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154665" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00154666" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00154667" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00154668" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154669" "" "" "" "1" "" "00006" "{PMID:van den Wijngaard 2011:21533915}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00154670" "" "" "" "1" "" "00006" "{PMID:Olivotto 2011:21835320}" "" "F" "" "" ">25y" "0" "" "" "" "" "00154672" "" "" "" "1" "" "00006" "{PMID:Millat 2011:21846512}" "" "M" "" "France" "" "0" "" "" "" "" "00154673" "" "" "" "1" "" "00006" "{PMID:Vallins 1990:2226790}" "" "" "" "" "" "0" "" "" "" "" "00154674" "" "" "" "1" "" "00006" "{PMID:Rai 2009:19449150}" "2-generation family, father/sister sudden cardiac death (congestive heart failure)" "F" "" "India" "" "0" "" "" "" "" "00154675" "" "" "" "2" "" "00006" "CardioGenomics database" "family, 2 affecteds" "" "" "United States" "" "0" "" "" "" "" "00154676" "" "" "" "1" "" "00006" "CardioGenomics database" "" "M" "" "United States" "" "0" "" "" "" "" "00204288" "" "" "" "3" "" "03069" "{PMID:Pantou 2019:30953456}" "2-generation family, 3 affected (2F, 1M), unaffected heterozygous parents and heterozygous sister" "F" "yes" "Greece" ">52y" "0" "" "" "" "II2" "00225627" "" "" "" "1" "" "02588" "{PMID:Shah 2017:28174160}" "" "M" "?" "Canada" "" "0" "" "furosemide, spironolactone, bisoprolol, enalapril and warfarin" "" "28174160-patient" "00228253" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D2" "00292198" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292199" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292200" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316736" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316737" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316738" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316739" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316740" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316741" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316742" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316743" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316744" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316745" "" "" "" "6" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316746" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316747" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316748" "" "" "" "10" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316749" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316750" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316751" "" "" "" "7" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316752" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316753" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316754" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316755" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316756" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316757" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316758" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316759" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316760" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316761" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316762" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316763" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316764" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316765" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316766" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316767" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316768" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316769" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316770" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316771" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316772" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316773" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316900" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316901" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317612" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317613" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317614" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317615" "" "" "" "5" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317616" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317617" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317618" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317619" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317620" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317621" "" "" "" "8" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317622" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317623" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317624" "" "" "" "8" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317625" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317626" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317627" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317628" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317629" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317630" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317631" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317632" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317633" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317634" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317635" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317636" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317637" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317638" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317639" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317902" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317903" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317904" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317905" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317906" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00417658" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00446792" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat75" "00453147" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam302Pat327" "00465790" "" "" "" "1" "" "03236" "" "" "" "" "France" "" "0" "" "" "" "" "00465791" "" "" "" "1" "" "03236" "" "" "" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 253 "{{individualid}}" "{{diseaseid}}" "00016140" "00351" "00064092" "00351" "00064102" "00351" "00064106" "00351" "00064165" "00351" "00064170" "00351" "00064226" "00351" "00108702" "00351" "00108703" "00351" "00108704" "00351" "00108705" "00351" "00128445" "00198" "00128459" "00198" "00154520" "00351" "00154521" "00351" "00154522" "00351" "00154523" "00351" "00154524" "00351" "00154525" "00351" "00154526" "00351" "00154527" "00351" "00154528" "00351" "00154529" "00351" "00154530" "00351" "00154531" "00351" "00154532" "00351" "00154533" "00351" "00154534" "00351" "00154535" "00351" "00154536" "00351" "00154537" "00351" "00154538" "00351" "00154539" "00351" "00154540" "00351" "00154541" "00351" "00154542" "05098" "00154543" "05098" "00154544" "05098" "00154545" "05098" "00154546" "05098" "00154547" "05098" "00154548" "05098" "00154549" "00351" "00154550" "00351" "00154551" "00351" "00154552" "00351" "00154553" "00351" "00154554" "00351" "00154555" "00351" "00154556" "00351" "00154557" "00351" "00154558" "00351" "00154559" "00351" "00154560" "00351" "00154561" "00351" "00154562" "00351" "00154563" "00351" "00154564" "00351" "00154565" "00351" "00154566" "00351" "00154567" "00352" "00154568" "00000" "00154569" "00351" "00154570" "00351" "00154571" "00351" "00154572" "00351" "00154573" "00351" "00154574" "00351" "00154575" "00351" "00154576" "00351" "00154577" "00351" "00154578" "00351" "00154579" "00351" "00154580" "00351" "00154581" "00351" "00154582" "00351" "00154583" "00351" "00154584" "00351" "00154585" "00351" "00154586" "00351" "00154587" "00351" "00154588" "00351" "00154589" "00351" "00154590" "00351" "00154591" "00351" "00154592" "00351" "00154593" "00351" "00154594" "00351" "00154595" "00351" "00154596" "00351" "00154597" "00351" "00154598" "00351" "00154599" "00351" "00154600" "00351" "00154601" "00351" "00154602" "00351" "00154603" "00351" "00154604" "00198" "00154605" "05098" "00154606" "00351" "00154607" "00000" "00154608" "05098" "00154609" "05098" "00154610" "00351" "00154611" "00000" "00154612" "00351" "00154613" "00351" "00154614" "00000" "00154615" "00351" "00154616" "00351" "00154617" "00351" "00154618" "00351" "00154619" "00352" "00154620" "00352" "00154621" "00352" "00154622" "00352" "00154623" "00352" "00154624" "00352" "00154625" "05098" "00154626" "00351" "00154627" "00351" "00154628" "00351" "00154629" "00351" "00154630" "00351" "00154631" "00351" "00154632" "00352" "00154633" "00000" "00154634" "00000" "00154635" "00000" "00154636" "00352" "00154637" "00352" "00154638" "00351" "00154639" "00351" "00154640" "05098" "00154641" "05098" "00154642" "00351" "00154643" "00351" "00154644" "00351" "00154645" "00351" "00154646" "00351" "00154647" "04173" "00154648" "00351" "00154649" "00351" "00154650" "00351" "00154651" "05098" "00154652" "00351" "00154653" "00198" "00154654" "00351" "00154655" "00351" "00154656" "00351" "00154657" "00351" "00154658" "00351" "00154659" "00351" "00154660" "00351" "00154661" "05098" "00154662" "00351" "00154663" "00351" "00154664" "00351" "00154665" "00351" "00154666" "00352" "00154667" "00351" "00154668" "00351" "00154669" "00351" "00154670" "00351" "00154672" "00352" "00154673" "00000" "00154674" "05098" "00154675" "00351" "00154676" "00351" "00204288" "05098" "00225627" "05098" "00228253" "00352" "00292198" "00198" "00292199" "00198" "00292200" "00198" "00316736" "04172" "00316737" "04172" "00316738" "04172" "00316739" "04172" "00316740" "04172" "00316741" "04172" "00316742" "04172" "00316743" "04172" "00316744" "04172" "00316745" "04172" "00316746" "04172" "00316747" "04172" "00316748" "04172" "00316749" "04172" "00316750" "04172" "00316751" "04172" "00316752" "04172" "00316753" "04172" "00316754" "04172" "00316755" "04172" "00316756" "04172" "00316757" "04172" "00316758" "04172" "00316759" "04172" "00316760" "04172" "00316761" "04172" "00316762" "04172" "00316763" "04172" "00316764" "04172" "00316765" "04172" "00316766" "04172" "00316767" "04172" "00316768" "04172" "00316769" "04172" "00316770" "04172" "00316771" "04172" "00316772" "04172" "00316773" "04172" "00316900" "04172" "00316901" "04172" "00317612" "04172" "00317613" "04172" "00317614" "04172" "00317615" "04172" "00317616" "04172" "00317617" "04172" "00317618" "04172" "00317619" "04172" "00317620" "04172" "00317621" "04172" "00317622" "04172" "00317623" "04172" "00317624" "04172" "00317625" "04172" "00317626" "04172" "00317627" "04172" "00317628" "04172" "00317629" "04172" "00317630" "04172" "00317631" "04172" "00317632" "04172" "00317633" "04172" "00317634" "04172" "00317635" "04172" "00317636" "04172" "00317637" "04172" "00317638" "04172" "00317639" "04172" "00317902" "04172" "00317903" "04172" "00317904" "04172" "00317905" "04172" "00317906" "04172" "00417658" "00352" "00446792" "04173" "00453147" "04172" "00465790" "04172" "00465791" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 00352, 01228, 03069, 03300, 03392, 04172, 04173, 05098 ## Count = 248 "{{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}}" "0000014925" "00351" "00016140" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000050608" "00351" "00064092" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050618" "00351" "00064102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050622" "00351" "00064106" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050681" "00351" "00064165" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050686" "00351" "00064170" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050742" "00351" "00064226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086176" "00351" "00108702" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086177" "00351" "00108703" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086178" "00351" "00108704" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086179" "00351" "00108705" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100664" "00198" "00128445" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100680" "00198" "00128459" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100681" "00198" "00128459" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000127256" "00351" "00154520" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127257" "00351" "00154521" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127258" "00351" "00154522" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127259" "00351" "00154523" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127260" "00351" "00154524" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127261" "00351" "00154525" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127262" "00351" "00154526" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127263" "00351" "00154527" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127264" "00351" "00154528" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127265" "00351" "00154529" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127266" "00351" "00154530" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127267" "00351" "00154531" "00052" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127268" "00351" "00154532" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127269" "00351" "00154533" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127270" "00351" "00154534" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127271" "00351" "00154535" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127272" "00351" "00154536" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127273" "00351" "00154537" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127274" "00351" "00154538" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic; Wolff-Parkinson-White ventricular preexcitation (WPW)" "" "0000127275" "00351" "00154539" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127276" "00351" "00154540" "00052" "Isolated (sporadic)" "" "late-onset" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127277" "00351" "00154541" "00052" "Isolated (sporadic)" "" "late-onset" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127278" "05098" "00154542" "00052" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127279" "05098" "00154543" "00006" "Isolated (sporadic)" "" "died of heart failure; marked bi-atrial dilatation, dilatation of pulmonary veins, normal-sized ventricles, normal wall thickness; ECG sinus rhythm with prominent P-waves, T-wave inversions, incomplete right bundle branch\r\nblock; heart myocyte hypertrophy, abundant interstitial fibrosis, myofibril disarray" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127280" "05098" "00154544" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127281" "05098" "00154545" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127282" "05098" "00154546" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127283" "05098" "00154547" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127284" "05098" "00154548" "00052" "Isolated (sporadic)" "" "sudden death father" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127285" "00351" "00154549" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127286" "00351" "00154550" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127287" "00351" "00154551" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127288" "00351" "00154552" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127289" "00351" "00154553" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127290" "00351" "00154554" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127291" "00351" "00154555" "00052" "Familial" "" "mother dyspnoea, ECG-left ventricular hypertrophy/atrial fibrillation; brother-1 atrial fibrillation; bother-2 ST-T-changes/atrial fibrillation" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127292" "00351" "00154556" "00052" "Familial" "" "" "" "27y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127293" "00351" "00154557" "00052" "Familial" "" "" "" "72y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127294" "00351" "00154558" "00052" "Familial" "" "" "" "28y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127295" "00351" "00154559" "00052" "Familial" "" "" "" "45y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127296" "00351" "00154560" "00052" "Familial" "" "" "" "74y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127297" "00351" "00154561" "00052" "Familial" "" "" "" "17y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127298" "00351" "00154562" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127299" "00351" "00154563" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127300" "00351" "00154564" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127301" "00351" "00154565" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127302" "00351" "00154566" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127303" "00352" "00154567" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated. idiopathic" "" "0000127304" "00000" "00154568" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127305" "00351" "00154569" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127306" "00351" "00154570" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127307" "00351" "00154571" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127308" "00351" "00154572" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127309" "00351" "00154573" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127310" "00351" "00154574" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127311" "00351" "00154575" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127312" "00351" "00154576" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127313" "00351" "00154577" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127314" "00351" "00154578" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127315" "00351" "00154579" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127316" "00351" "00154580" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127317" "00351" "00154581" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127318" "00351" "00154582" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127319" "00351" "00154583" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127320" "00351" "00154584" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127321" "00351" "00154585" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127322" "00351" "00154586" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127323" "00351" "00154587" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127324" "00351" "00154588" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127325" "00351" "00154589" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127326" "00351" "00154590" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127327" "00351" "00154591" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127328" "00351" "00154592" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127329" "00351" "00154593" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127330" "00351" "00154594" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127331" "00351" "00154595" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127332" "00351" "00154596" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127333" "00351" "00154597" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127334" "00351" "00154598" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127335" "00351" "00154599" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127336" "00351" "00154600" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127337" "00351" "00154601" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127338" "00351" "00154602" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127339" "00351" "00154603" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic, atypical" "" "0000127340" "00198" "00154604" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "left ventricular wall, increased" "" "0000127341" "05098" "00154605" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127342" "00351" "00154606" "00052" "Familial" "" "severe" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic, familial" "" "0000127343" "00000" "00154607" "00052" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000127344" "05098" "00154608" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127345" "05098" "00154609" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127346" "00351" "00154610" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127347" "00000" "00154611" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127348" "00351" "00154612" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127349" "00351" "00154613" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127350" "00000" "00154614" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127351" "00351" "00154615" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127352" "00351" "00154616" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127353" "00351" "00154617" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127354" "00351" "00154618" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127355" "00352" "00154619" "00052" "Familial, autosomal dominant" "" "" "15y" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127356" "00352" "00154620" "00052" "Familial" "" "" "24y" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127357" "00352" "00154621" "00052" "Isolated (sporadic)" "" "sudden cardiac deaths in family" "13y" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127358" "00352" "00154622" "00052" "Isolated (sporadic)" "" "sudden cardiac deaths in family" "6y" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127359" "00352" "00154623" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated, familial" "" "0000127360" "00352" "00154624" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated. idiopathic" "" "0000127361" "05098" "00154625" "00052" "Isolated (sporadic)" "" "ventricular septal defect" "4y" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127362" "00351" "00154626" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127363" "00351" "00154627" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127364" "00351" "00154628" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127365" "00351" "00154629" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127366" "00351" "00154630" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127367" "00351" "00154631" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127368" "00352" "00154632" "00006" "Isolated (sporadic)" "" "sudden death while sleeping (sudden deaths in family)" "19y" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127369" "00000" "00154633" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127370" "00000" "00154634" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127371" "00000" "00154635" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127372" "00352" "00154636" "00006" "Unknown" "" "associated with (P=0.006)" "" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated, associated" "" "0000127373" "00352" "00154637" "00006" "Unknown" "" "associated with (P=0.006)" "" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated, associated" "" "0000127374" "00351" "00154638" "00006" "Unknown" "" "associated with (P=0.09)" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127375" "00351" "00154639" "00006" "Unknown" "" "associated with (P=0.09)" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127376" "05098" "00154640" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127377" "05098" "00154641" "00006" "Isolated (sporadic)" "" "severe" "6m" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127378" "00351" "00154642" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127379" "00351" "00154643" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127380" "00351" "00154644" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127381" "00351" "00154645" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127382" "00351" "00154646" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127383" "04173" "00154647" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, left ventricular non-compaction" "" "0000127384" "00351" "00154648" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127385" "00351" "00154649" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127386" "00351" "00154650" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127387" "05098" "00154651" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127388" "00351" "00154652" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127389" "00198" "00154653" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy?" "" "0000127390" "00351" "00154654" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127391" "00351" "00154655" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127392" "00351" "00154656" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127393" "00351" "00154657" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127394" "00351" "00154658" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127395" "00351" "00154659" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127396" "00351" "00154660" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127397" "05098" "00154661" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127398" "00351" "00154662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127399" "00351" "00154663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127400" "00351" "00154664" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127401" "00351" "00154665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127402" "00352" "00154666" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127403" "00351" "00154667" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127404" "00351" "00154668" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic; sudden cardiac death (SCM)" "" "0000127405" "00351" "00154669" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127406" "00351" "00154670" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127408" "00352" "00154672" "00006" "Familial" "" "arrhythmia including supraventricular tachycardia and premature ventricular beats" "4y" "" "" "" "" "" "" "" "" "cardiomyopathy, dilated" "" "0000127409" "00000" "00154673" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127410" "05098" "00154674" "00006" "Unknown" "" "sudden caridac death" "" "" "" "" "" "" "" "" "" "cardiomyopathy, restrictive" "" "0000127411" "00351" "00154675" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000127412" "00351" "00154676" "00006" "Isolated (sporadic)" "" "" "12y" "17y" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic" "" "0000152791" "05098" "00204288" "03069" "Familial, autosomal recessive" "41y" "Paroxysmal atrial fibrillation (HP:0004757), \r\nMitral regurgitation (HP:0001653), Ischemic stroke (HP:0002140)" "" "41y" "Exertional dyspnea (HP:0002875)" "" "" "" "" "" "" "" "" "0000170740" "05098" "00225627" "02588" "Familial, autosomal dominant" "30y" "right sided-dominant heart failure; right ventricular dilatation, mild (HP:0005133); increased adipose tissue (HP:0009126); cardiomyocyte hypertrophy, mild (HP:0031319); myocardial fibrosis, mild (HP:0001685); restrictive cardiomyopathy (HP:0001723); pulmonary arterial hypertension (HP:0002092); tricuspid regurgitation, moderate (HP:0005180); left atrial enlargement (HP:0031295); right atrial enlargement (HP:0030718); right bundle branch block, incomplete (HP:0011712); paroxysmal atrial fibrillation (HP:0004757); peripheral edema (HP:0012398); elevated jugular venous pressure (HP:0030848); hepatojugular reflux (HP:0030849)" "" "24y" "" "" "" "" "" "" "" "" "" "0000172182" "00352" "00228253" "00006" "Unknown" "15y" "see paper; …" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000240482" "04172" "00316736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240483" "04172" "00316737" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240484" "04172" "00316738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240485" "04172" "00316739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240486" "04172" "00316740" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240487" "04172" "00316741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240488" "04172" "00316742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240489" "04172" "00316743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240490" "04172" "00316744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240491" "04172" "00316745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240492" "04172" "00316746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240493" "04172" "00316747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240494" "04172" "00316748" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240495" "04172" "00316749" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240496" "04172" "00316750" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240497" "04172" "00316751" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240498" "04172" "00316752" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240499" "04172" "00316753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240500" "04172" "00316754" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240501" "04172" "00316755" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240502" "04172" "00316756" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240503" "04172" "00316757" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240504" "04172" "00316758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240505" "04172" "00316759" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240506" "04172" "00316760" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240507" "04172" "00316761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240508" "04172" "00316762" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240509" "04172" "00316763" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240510" "04172" "00316764" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240511" "04172" "00316765" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240512" "04172" "00316766" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240513" "04172" "00316767" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240514" "04172" "00316768" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240515" "04172" "00316769" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240516" "04172" "00316770" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240517" "04172" "00316771" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240518" "04172" "00316772" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240519" "04172" "00316773" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240646" "04172" "00316900" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240647" "04172" "00316901" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241358" "04172" "00317612" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241359" "04172" "00317613" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241360" "04172" "00317614" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241361" "04172" "00317615" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241362" "04172" "00317616" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241363" "04172" "00317617" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241364" "04172" "00317618" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241365" "04172" "00317619" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241366" "04172" "00317620" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241367" "04172" "00317621" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241368" "04172" "00317622" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241369" "04172" "00317623" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241370" "04172" "00317624" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241371" "04172" "00317625" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241372" "04172" "00317626" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241373" "04172" "00317627" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241374" "04172" "00317628" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241375" "04172" "00317629" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241376" "04172" "00317630" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241377" "04172" "00317631" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241378" "04172" "00317632" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241379" "04172" "00317633" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241380" "04172" "00317634" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241381" "04172" "00317635" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241382" "04172" "00317636" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241383" "04172" "00317637" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241384" "04172" "00317638" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241385" "04172" "00317639" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241648" "04172" "00317902" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241649" "04172" "00317903" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241650" "04172" "00317904" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241651" "04172" "00317905" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241652" "04172" "00317906" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000335996" "04173" "00446792" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000341793" "04172" "00453147" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 253 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016262" "00016140" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000064225" "00064092" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064235" "00064102" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064239" "00064106" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064298" "00064165" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064303" "00064170" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064359" "00064226" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000109167" "00108702" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000109168" "00108703" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000109169" "00108704" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000109170" "00108705" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000129283" "00128445" "1" "02244" "02244" "2017-09-15 17:27:10" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129297" "00128459" "1" "02244" "02244" "2017-09-15 18:02:00" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000155378" "00154520" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155379" "00154521" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155380" "00154522" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155381" "00154523" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155382" "00154524" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155383" "00154525" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155384" "00154526" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155385" "00154527" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155386" "00154528" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "SEQ" "DNA" "" "" "0000155387" "00154529" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "SEQ" "DNA" "" "" "0000155388" "00154530" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "BESS;PCRm;SEQ" "DNA" "" "" "0000155389" "00154531" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155390" "00154532" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "BESS;PCRm;SEQ" "DNA" "" "" "0000155391" "00154533" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155392" "00154534" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155393" "00154535" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155394" "00154536" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "SEQ" "DNA" "" "" "0000155395" "00154537" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "PCR;SEQ" "DNA" "" "" "0000155396" "00154538" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "BESS;PCRm;SEQ" "DNA" "" "" "0000155397" "00154539" "1" "00052" "00052" "2011-08-02 15:42:51" "" "" "BESS;PCRm;SEQ" "DNA" "" "" "0000155398" "00154540" "1" "00052" "00052" "2011-08-01 11:43:27" "" "" "SEQ" "DNA" "" "" "0000155399" "00154541" "1" "00052" "00052" "2011-08-01 11:43:27" "" "" "SEQ" "DNA" "" "" "0000155400" "00154542" "1" "00052" "00052" "2011-08-01 11:43:27" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000155401" "00154543" "1" "00006" "00006" "2011-08-01 11:43:27" "00006" "2013-12-29 12:41:54" "SEQ" "DNA" "" "" "0000155402" "00154544" "1" "00052" "00052" "2011-08-01 11:43:27" "" "" "SEQ" "DNA" "" "" "0000155403" "00154545" "1" "00052" "00052" "2011-08-01 11:49:00" "" "" "SEQ" "DNA" "" "" "0000155404" "00154546" "1" "00052" "00052" "2011-08-01 11:49:00" "" "" "SEQ" "DNA" "" "" "0000155405" "00154547" "1" "00052" "00052" "2011-08-01 12:50:41" "" "" "SEQ" "DNA" "" "" "0000155406" "00154548" "1" "00052" "00052" "2011-08-01 14:12:59" "" "" "SEQ" "DNA" "" "" "0000155407" "00154549" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" 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15:20:47" "00006" "2011-08-10 11:32:40" "DHPLC;PCR;SEQ" "DNA" "" "" "0000155418" "00154560" "1" "00052" "00052" "2011-08-01 15:20:47" "00006" "2011-08-10 11:32:40" "DHPLC;PCR;SEQ" "DNA" "" "" "0000155419" "00154561" "1" "00052" "00052" "2011-08-01 15:20:47" "00006" "2011-08-10 11:32:40" "DHPLC;PCR;SEQ" "DNA" "" "" "0000155420" "00154562" "1" "00052" "00052" "2011-08-01 16:11:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000155421" "00154563" "1" "00052" "00052" "2011-08-01 16:11:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000155422" "00154564" "1" "00052" "00052" "2011-08-01 16:11:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000155423" "00154565" "1" "00052" "00052" "2011-08-01 16:11:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000155424" "00154566" "1" "00052" "00052" "2011-08-01 16:11:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000155425" "00154567" "1" "00052" "00052" "2011-08-01 16:35:42" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000155426" "00154568" "1" "00006" "00006" "2011-08-01 16:35:42" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000155427" "00154569" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155428" "00154570" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155429" "00154571" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155430" "00154572" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155431" "00154573" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155432" "00154574" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155433" "00154575" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155434" "00154576" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155435" "00154577" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155436" "00154578" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155437" "00154579" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155438" "00154580" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155439" "00154581" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155440" "00154582" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155441" "00154583" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155442" "00154584" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155443" "00154585" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155444" "00154586" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155445" "00154587" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155446" "00154588" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155447" "00154589" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155448" "00154590" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155449" "00154591" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155450" "00154592" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155451" "00154593" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155452" "00154594" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155453" "00154595" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155454" "00154596" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155455" "00154597" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155456" "00154598" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155457" "00154599" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155458" "00154600" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155459" "00154601" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" 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"00052" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155482" "00154624" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155483" "00154625" "1" "00052" "00052" "2011-08-02 16:13:02" "00006" "2011-10-26 11:12:04" "SEQ" "DNA" "" "" "0000155484" "00154626" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155485" "00154627" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155486" "00154628" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155487" "00154629" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155488" "00154630" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155489" "00154631" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155490" "00154632" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155491" "00154633" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "SEQ" "DNA" "" "" "0000155492" 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"" "DGGE;SEQ" "DNA" "" "" "0000155503" "00154645" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "DGGE;SEQ" "DNA" "" "" "0000155504" "00154646" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "DGGE;SEQ" "DNA" "" "" "0000155505" "00154647" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "DGGE;SEQ" "DNA" "" "" "0000155506" "00154648" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "DGGE;SEQ" "DNA" "" "" "0000155507" "00154649" "1" "00006" "00006" "2013-12-28 10:24:14" "" "" "DGGE;SEQ" "DNA" "" "" "0000155508" "00154650" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155509" "00154651" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155510" "00154652" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155511" "00154653" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155512" "00154654" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155513" "00154655" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155514" "00154656" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155515" "00154657" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155516" "00154658" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155517" "00154659" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155518" "00154660" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155519" "00154661" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155520" "00154662" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155521" "00154663" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155522" "00154664" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155523" "00154665" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155524" "00154666" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155525" "00154667" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155526" "00154668" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155527" "00154669" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "DGGE;SEQ" "DNA" "" "" "0000155528" "00154670" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "SEQ" "DNA" "" "" "0000155530" "00154672" "1" "00006" "00006" "2013-12-28 10:24:15" "" "" "MCA;SEQ" "DNA" "" "" "0000155531" "00154673" "1" "00006" "00006" "2013-12-28 12:30:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000155532" "00154674" "1" "00006" "00006" "2013-12-28 14:28:39" "" "" "DHPLC;SEQ" "DNA" "" "" "0000155533" "00154675" "1" "00006" "00006" "2013-12-29 11:29:30" "" "" "SEQ" "DNA" "" "" "0000155534" "00154676" "1" "00006" "00006" "2013-12-29 12:20:12" "" "" "SEQ" "DNA" "" "" "0000205317" "00204288" "1" "03069" "03069" "2018-11-08 09:42:01" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel" "0000226706" "00225627" "1" "02588" "02588" "2019-02-20 12:46:27" "" "" "SEQ-NG;Western" "DNA;protein" "blood" "" "0000229343" "00228253" "1" "00006" "00006" "2019-03-22 14:14:33" "" "" "SEQ" "DNA" "" "58-gene panel" "0000293366" "00292198" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293367" "00292199" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293368" "00292200" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317918" "00316736" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317919" "00316737" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317920" "00316738" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317921" "00316739" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317922" "00316740" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317923" "00316741" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317924" "00316742" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317925" "00316743" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317926" "00316744" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317927" "00316745" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317928" "00316746" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317929" "00316747" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317930" "00316748" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317931" "00316749" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317932" "00316750" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317933" "00316751" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317934" "00316752" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317935" "00316753" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317936" "00316754" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317937" "00316755" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317938" "00316756" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317939" "00316757" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317940" "00316758" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317941" "00316759" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317942" "00316760" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317943" "00316761" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317944" "00316762" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317945" "00316763" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317946" "00316764" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317947" "00316765" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317948" "00316766" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317949" "00316767" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317950" "00316768" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317951" "00316769" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317952" "00316770" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317953" "00316771" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317954" "00316772" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317955" "00316773" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318082" "00316900" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318083" "00316901" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318794" "00317612" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318795" "00317613" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318796" "00317614" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318797" "00317615" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318798" "00317616" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318799" "00317617" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318800" "00317618" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318801" "00317619" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318802" "00317620" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318803" "00317621" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318804" "00317622" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318805" "00317623" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318806" "00317624" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318807" "00317625" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318808" "00317626" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318809" "00317627" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318810" "00317628" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318811" "00317629" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318812" "00317630" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318813" "00317631" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318814" "00317632" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318815" "00317633" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318816" "00317634" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318817" "00317635" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318818" "00317636" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318819" "00317637" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318820" "00317638" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318821" "00317639" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319084" "00317902" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319085" "00317903" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319086" "00317904" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319087" "00317905" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319088" "00317906" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000418951" "00417658" "1" "04384" "04384" "2022-09-21 11:43:08" "" "" "SEQ-NG" "DNA" "" "" "0000448367" "00446792" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454758" "00453147" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000467441" "00465790" "1" "03236" "00006" "2019-03-25 10:03:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467442" "00465791" "1" "03236" "00006" "2019-03-25 10:03:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 252 "{{screeningid}}" "{{geneid}}" "0000016262" "DMD" "0000016262" "JPH2" "0000016262" "TNNI3" "0000016262" "TTN" "0000064225" "TTN" "0000064235" "TTN" "0000064239" "TTN" "0000064298" "TTN" "0000064303" "TTN" "0000064359" "TTN" "0000155378" "TNNI3" "0000155379" "TNNI3" "0000155380" "TNNI3" "0000155381" "TNNI3" "0000155382" "TNNI3" "0000155383" "TNNI3" "0000155384" "TNNI3" "0000155385" "TNNI3" "0000155386" "TNNI3" "0000155387" "TNNI3" "0000155388" "TNNI3" "0000155389" "TNNI3" "0000155390" "TNNI3" "0000155391" "TNNI3" "0000155392" "TNNI3" "0000155393" "TNNI3" "0000155394" "TNNI3" "0000155395" "TNNI3" "0000155396" "TNNI3" "0000155397" "TNNI3" "0000155398" "TNNI3" "0000155399" "TNNI3" "0000155400" "TNNI3" "0000155401" "TNNI3" "0000155402" "TNNI3" "0000155403" "TNNI3" "0000155404" "TNNI3" "0000155405" "TNNI3" "0000155406" "TNNI3" "0000155407" "TNNI3" "0000155408" "TNNI3" "0000155409" "TNNI3" "0000155410" "TNNI3" "0000155411" "TNNI3" "0000155412" "TNNI3" "0000155413" "TNNI3" "0000155414" "TNNI3" "0000155415" "TNNI3" "0000155416" "TNNI3" "0000155417" "TNNI3" "0000155418" "TNNI3" "0000155419" "TNNI3" "0000155420" "TNNI3" "0000155421" "TNNI3" "0000155422" "TNNI3" "0000155423" "TNNI3" "0000155424" "TNNI3" "0000155425" "TNNI3" "0000155426" "TNNI3" "0000155427" "TNNI3" "0000155428" "TNNI3" "0000155429" "TNNI3" "0000155430" "TNNI3" "0000155431" "TNNI3" "0000155432" "TNNI3" "0000155433" "TNNI3" "0000155434" "TNNI3" "0000155435" "TNNI3" "0000155436" "TNNI3" "0000155437" "TNNI3" "0000155438" "TNNI3" "0000155439" "TNNI3" "0000155440" "TNNI3" "0000155441" "TNNI3" "0000155442" "TNNI3" "0000155443" "TNNI3" "0000155444" "TNNI3" "0000155445" "TNNI3" "0000155446" "TNNI3" "0000155447" "TNNI3" "0000155448" "TNNI3" "0000155449" "TNNI3" "0000155450" "TNNI3" "0000155451" "TNNI3" "0000155452" "TNNI3" "0000155453" "TNNI3" "0000155454" "TNNI3" "0000155455" "TNNI3" "0000155456" "TNNI3" "0000155457" "TNNI3" "0000155458" "TNNI3" "0000155459" "TNNI3" "0000155460" "TNNI3" "0000155461" "TNNI3" "0000155462" "TNNI3" "0000155463" "TNNI3" "0000155464" "TNNI3" "0000155465" "TNNI3" "0000155466" "TNNI3" "0000155467" "TNNI3" "0000155468" "TNNI3" "0000155469" "TNNI3" "0000155470" "TNNI3" "0000155471" "TNNI3" "0000155472" "TNNI3" "0000155473" "TNNI3" "0000155474" "TNNI3" "0000155475" "TNNI3" "0000155476" "TNNI3" "0000155477" "TNNI3" "0000155478" "TNNI3" "0000155479" "TNNI3" "0000155480" "TNNI3" "0000155481" "TNNI3" "0000155482" "TNNI3" "0000155483" "TNNI3" "0000155484" "TNNI3" "0000155485" "TNNI3" "0000155486" "TNNI3" "0000155487" "TNNI3" "0000155488" "TNNI3" "0000155489" "TNNI3" "0000155490" "TNNI3" "0000155491" "TNNI3" "0000155492" "TNNI3" "0000155493" "TNNI3" "0000155494" "TNNI3" "0000155495" "TNNI3" "0000155496" "TNNI3" "0000155497" "TNNI3" "0000155498" "TNNI3" "0000155499" "TNNI3" "0000155500" "TNNI3" "0000155501" "TNNI3" "0000155502" "TNNI3" "0000155503" "TNNI3" "0000155504" "TNNI3" "0000155505" "TNNI3" "0000155506" "TNNI3" "0000155507" "TNNI3" "0000155508" "TNNI3" "0000155509" "TNNI3" "0000155510" "TNNI3" "0000155511" "TNNI3" "0000155512" "TNNI3" "0000155513" "TNNI3" "0000155514" "TNNI3" "0000155515" "TNNI3" "0000155516" "TNNI3" "0000155517" "TNNI3" "0000155518" "TNNI3" "0000155519" "TNNI3" "0000155520" "TNNI3" "0000155521" "TNNI3" "0000155522" "TNNI3" "0000155523" "TNNI3" "0000155524" "TNNI3" "0000155525" "TNNI3" "0000155526" "TNNI3" "0000155527" "TNNI3" "0000155528" "TNNI3" "0000155530" "TNNI3" "0000155531" "TNNI3" "0000155532" "TNNI3" "0000155533" "TNNI3" "0000155534" "TNNI3" "0000205317" "CAV3" "0000205317" "JPH2" "0000205317" "LDB3" "0000205317" "MYBPC3" "0000205317" "MYH7" "0000205317" "MYLK2" "0000205317" "TNNC1" "0000205317" "TNNI3" "0000205317" "TNNT2" "0000205317" "TPM1" "0000226706" "TNNI3" "0000229343" "TNNI3" "0000317918" "TNNI3" "0000317919" "TNNI3" "0000317920" "TNNI3" "0000317921" "TNNI3" "0000317922" "TNNI3" "0000317923" "TNNI3" "0000317924" "TNNI3" "0000317925" "TNNI3" "0000317926" "TNNI3" "0000317927" "TNNI3" "0000317928" "TNNI3" "0000317929" "TNNI3" "0000317930" "TNNI3" "0000317931" "TNNI3" "0000317932" "TNNI3" "0000317933" "TNNI3" "0000317934" "TNNI3" "0000317935" "TNNI3" "0000317936" "TNNI3" "0000317937" "TNNI3" "0000317938" "TNNI3" "0000317939" "TNNI3" "0000317940" "TNNI3" "0000317941" "TNNI3" "0000317942" "TNNI3" "0000317943" "TNNI3" "0000317944" "TNNI3" "0000317945" "TNNI3" "0000317946" "TNNI3" "0000317947" "TNNI3" "0000317948" "TNNI3" "0000317949" "TNNI3" "0000317950" "TNNI3" "0000317951" "TNNI3" "0000317952" "TNNI3" "0000317953" "TNNI3" "0000317954" "TNNI3" "0000317955" "TNNI3" "0000318082" "TNNI3" "0000318083" "TNNI3" "0000318794" "TNNI3" "0000318795" "TNNI3" "0000318796" "TNNI3" "0000318797" "TNNI3" "0000318798" "TNNI3" "0000318799" "TNNI3" "0000318800" "TNNI3" "0000318801" "TNNI3" "0000318802" "TNNI3" "0000318803" "TNNI3" "0000318804" "TNNI3" "0000318805" "TNNI3" "0000318806" "TNNI3" "0000318807" "TNNI3" "0000318808" "TNNI3" "0000318809" "TNNI3" "0000318810" "TNNI3" "0000318811" "TNNI3" "0000318812" "TNNI3" "0000318813" "TNNI3" "0000318814" "TNNI3" "0000318815" "TNNI3" "0000318816" "TNNI3" "0000318817" "TNNI3" "0000318818" "TNNI3" "0000318819" "TNNI3" "0000318820" "TNNI3" "0000318821" "TNNI3" "0000319084" "TNNI3" "0000319085" "TNNI3" "0000319086" "TNNI3" "0000319087" "TNNI3" "0000319088" "TNNI3" "0000418951" "TNNI3" ## 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 = 549 "{{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}}" "0000036034" "1" "95" "19" "55665450" "55665450" "subst" "8.13935E-6" "00668" "TNNI3_000035" "g.55665450G>A" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000095275" "0" "50" "19" "55665421" "55665421" "subst" "0" "00006" "TNNI3_000106" "g.55665421C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000363:c.G526A" "" "Germline" "" "" "0" "" "" "g.55154053C>T" "" "VUS" "" "0000095314" "0" "50" "19" "55663249" "55663249" "subst" "8.12282E-6" "00006" "TNNI3_000022" "g.55663249C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000363:c.G586A" "" "Germline" "" "" "0" "" "" "g.55151881C>T" "" "VUS" "" "0000095329" "0" "50" "19" "55665421" "55665421" "subst" "0" "00006" "TNNI3_000106" "g.55665421C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000363:c.G526A" "" "Germline" "" "" "0" "" "" "g.55154053C>T" "" "VUS" "" "0000095548" "0" "50" "19" "55663243" "55663243" "subst" "0" "00006" "TNNI3_000107" "g.55663243G>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000363:c.C592G" "" "Germline" "" "" "0" "" "" "g.55151875G>C" "" "VUS" "" "0000095567" "0" "50" "19" "55665436" "55665436" "subst" "0" "00006" "TNNI3_000027" "g.55665436C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000363:c.G511A" "" "Germline" "" "" "0" "" "" "g.55154068C>T" "" "VUS" "" "0000095747" "0" "50" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000363:c.G485A" "" "Germline" "" "" "0" "" "" "g.55154094C>T" "" "VUS" "" "0000175259" "1" "90" "19" "55667631" "55667631" "subst" "4.23313E-6" "01401" "TNNI3_000110" "g.55667631G>C" "reads 0.22" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "NCBI reference KU508452" "Germline" "" "" "0" "" "" "g.55156263G>C" "" "pathogenic" "" "0000175260" "1" "90" "19" "55665508" "55665508" "subst" "2.44202E-5" "01401" "TNNI3_000093" "g.55665508C>G" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.55154140C>G" "" "pathogenic" "" "0000175261" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "01401" "TNNI3_000034" "g.55665462C>T" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000175262" "1" "90" "19" "55663254" "55663254" "subst" "0" "01401" "TNNI3_000108" "g.55663254T>C" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.55151886T>C" "" "pathogenic" "" "0000218437" "0" "90" "19" "55666189" "55666189" "subst" "6.50063E-5" "02244" "TNNI3_000111" "g.55666189G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.55154821G>A" "" "pathogenic" "" "0000218458" "0" "50" "19" "55667607" "55667607" "subst" "0.00144663" "02244" "TNNI3_000021" "g.55667607G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.55156239G>A" "" "VUS" "" "0000247551" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "02330" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000247556" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02330" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "benign" "" "0000247933" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "02325" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000247977" "0" "10" "19" "55672784" "55672784" "subst" "0.182879" "02325" "DNAAF3_000014" "g.55672784A>G" "" "" "" "DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161416A>G" "" "benign" "" "0000248255" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02325" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "benign" "" "0000249413" "0" "30" "19" "55667982" "55667982" "subst" "4.6463E-5" "02325" "TNNI3_000082" "g.55667982A>G" "" "" "" "TNNI3(NM_000363.5):c.139T>C (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156614A>G" "" "likely benign" "" "0000251701" "0" "30" "19" "55665584" "55665584" "subst" "0.999984" "02326" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "likely benign" "" "0000253194" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "01943" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000253238" "0" "10" "19" "55672784" "55672784" "subst" "0.182879" "01943" "DNAAF3_000014" "g.55672784A>G" "" "" "" "DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161416A>G" "" "benign" "" "0000253940" "0" "10" "19" "55668819" "55668819" "subst" "0" "01943" "TNNI3_000095" "g.55668819A>G" "" "" "" "TNNI3(NM_000363.4):c.11+128T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157451A>G" "" "benign" "" "0000267435" "0" "10" "19" "55671094" "55671094" "del" "0" "02325" "DNAAF3_000005" "g.55671094del" "" "" "" "DNAAF3(NM_001256716.2):c.1002-116delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159726del" "" "benign" "" "0000267436" "0" "10" "19" "55670825" "55670825" "subst" "0.322739" "02325" "DNAAF3_000003" "g.55670825T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159457T>C" "" "benign" "" "0000267437" "0" "10" "19" "55672569" "55672569" "subst" "0.158185" "02325" "DNAAF3_000013" "g.55672569G>A" "" "" "" "DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161201G>A" "" "benign" "" "0000267438" "0" "10" "19" "55672470" "55672470" "subst" "0.159055" "02325" "DNAAF3_000010" "g.55672470T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161102T>C" "" "benign" "" "0000267439" "0" "10" "19" "55671374" "55671374" "subst" "0.214899" "02325" "DNAAF3_000008" "g.55671374C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55160006C>T" "" "benign" "" "0000267440" "0" "10" "19" "55671337" "55671337" "subst" "1" "02325" "DNAAF3_000007" "g.55671337C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159969=" "" "benign" "" "0000275152" "0" "30" "19" "55672514" "55672514" "subst" "0" "01943" "DNAAF3_000012" "g.55672514G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1035C>T (p.I345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161146G>A" "" "likely benign" "" "0000275153" "0" "30" "19" "55672513" "55672513" "subst" "0.0016903" "01943" "DNAAF3_000011" "g.55672513C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161145C>T" "" "likely benign" "" "0000275154" "0" "10" "19" "55670825" "55670825" "subst" "0.322739" "01943" "DNAAF3_000003" "g.55670825T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159457T>C" "" "benign" "" "0000275155" "0" "30" "19" "55672129" "55672129" "subst" "4.13363E-6" "01943" "DNAAF3_000009" "g.55672129G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1131C>T (p.I377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55160761G>A" "" "likely benign" "" "0000275157" "0" "50" "19" "55671257" "55671257" "subst" "0.00228548" "01943" "DNAAF3_000006" "g.55671257C>A" "" "" "" "DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159889C>A" "" "VUS" "" "0000275158" "0" "10" "19" "55670989" "55670989" "subst" "0.106587" "01943" "DNAAF3_000004" "g.55670989G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1365-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159621G>A" "" "benign" "" "0000275159" "0" "30" "19" "55670513" "55670513" "subst" "1.62951E-5" "01943" "DNAAF3_000001" "g.55670513C>T" "" "" "" "DNAAF3(NM_001256716.1):c.1381G>A (p.G461S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159145C>T" "" "likely benign" "" "0000275160" "0" "30" "19" "55670651" "55670651" "subst" "0.00212085" "01943" "DNAAF3_000002" "g.55670651C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159283C>T" "" "likely benign" "" "0000275161" "0" "10" "19" "55673654" "55673654" "subst" "0.0350278" "01943" "DNAAF3_000016" "g.55673654T>C" "" "" "" "DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55162286T>C" "" "benign" "" "0000275162" "0" "10" "19" "55672569" "55672569" "subst" "0.158185" "01943" "DNAAF3_000013" "g.55672569G>A" "" "" "" "DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161201G>A" "" "benign" "" "0000275163" "0" "10" "19" "55672470" "55672470" "subst" "0.159055" "01943" "DNAAF3_000010" "g.55672470T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161102T>C" "" "benign" "" "0000275164" "0" "10" "19" "55673164" "55673164" "subst" "0.128793" "01943" "DNAAF3_000015" "g.55673164T>C" "" "" "" "DNAAF3(NM_001256714.1):c.714A>G (p.V238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161796T>C" "" "benign" "" "0000275165" "0" "10" "19" "55671374" "55671374" "subst" "0.214899" "01943" "DNAAF3_000008" "g.55671374C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55160006C>T" "" "benign" "" "0000275166" "0" "10" "19" "55671337" "55671337" "subst" "1" "01943" "DNAAF3_000007" "g.55671337C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159969=" "" "benign" "" "0000309271" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "02330" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156661G>T" "" "benign" "" "0000309273" "0" "10" "19" "55668684" "55668684" "del" "0" "02330" "TNNI3_000092" "g.55668684del" "" "" "" "TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157316del" "" "benign" "" "0000309275" "0" "10" "19" "55667958" "55667958" "subst" "0.0181143" "02330" "TNNI3_000081" "g.55667958C>T" "" "" "" "TNNI3(NM_000363.4):c.150+13G>A, TNNI3(NM_000363.5):c.150+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156590C>T" "" "benign" "" "0000309276" "0" "10" "19" "55667718" "55667719" "del" "0" "02330" "TNNI3_000149" "g.55667718_55667719del" "" "" "" "TNNI3(NM_000363.5):c.151-18_151-17delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156350_55156351del" "" "benign" "" "0000309279" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "02330" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156285C>T" "" "benign" "" "0000309281" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02330" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000309282" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "02330" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000309284" "0" "10" "19" "55667578" "55667578" "subst" "0.000355387" "02330" "TNNI3_000141" "g.55667578C>T" "" "" "" "TNNI3(NM_000363.4):c.273G>A (p.A91=), TNNI3(NM_000363.5):c.273G>A (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156210C>T" "" "benign" "" "0000309285" "0" "50" "19" "55666113" "55666113" "subst" "8.1275E-6" "02330" "TNNI3_000138" "g.55666113G>A" "" "" "" "TNNI3(NM_000363.5):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154745G>A" "" "VUS" "" "0000309287" "0" "50" "19" "55665540" "55665540" "subst" "4.07671E-6" "02330" "TNNI3_000063" "g.55665540C>T" "" "" "" "TNNI3(NM_000363.5):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154172C>T" "" "VUS" "" "0000309288" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02330" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000309289" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02330" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000309291" "0" "70" "19" "55665416" "55665416" "subst" "0" "02330" "TNNI3_000125" "g.55665416C>A" "" "" "" "TNNI3(NM_000363.5):c.531G>T (p.K177N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154048C>A" "" "likely pathogenic" "" "0000309293" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02330" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000309294" "0" "10" "19" "55665404" "55665404" "subst" "0" "02330" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154036G>A" "" "benign" "" "0000309295" "0" "10" "19" "55663295" "55663295" "subst" "0.00054878" "02330" "TNNI3_000118" "g.55663295G>A" "" "" "" "TNNI3(NM_000363.4):c.550-10C>T, TNNI3(NM_000363.5):c.550-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151927G>A" "" "benign" "" "0000309297" "0" "10" "19" "55663235" "55663235" "subst" "0" "02330" "TNNI3_000116" "g.55663235T>C" "" "" "" "TNNI3(NM_000363.5):c.600A>G (p.G200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151867T>C" "" "benign" "" "0000309298" "0" "90" "19" "55663209" "55663209" "subst" "0" "02330" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000311929" "0" "30" "19" "55668029" "55668029" "subst" "0.0039672" "02325" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156661G>T" "" "likely benign" "" "0000311930" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02325" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000311931" "0" "30" "19" "55667607" "55667607" "subst" "0.00144663" "02325" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "likely benign" "" "0000311932" "0" "70" "19" "55666189" "55666189" "subst" "6.50063E-5" "02325" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154821G>A" "" "likely pathogenic" "" "0000311933" "0" "30" "19" "55666151" "55666151" "subst" "0" "02325" "TNNI3_000139" "g.55666151C>T" "" "" "" "TNNI3(NM_000363.5):c.330G>A (p.E110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154783C>T" "" "likely benign" "" "0000311934" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02325" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000311935" "0" "90" "19" "55665513" "55665513" "subst" "1.62829E-5" "02325" "TNNI3_000012" "g.55665513C>T" "" "" "" "TNNI3(NM_000363.5):c.434G>A (p.R145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154145C>T" "" "pathogenic" "" "0000311936" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "02325" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154094C>T" "" "likely pathogenic" "" "0000311937" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02325" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000311938" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02325" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000311939" "0" "90" "19" "55663263" "55663263" "subst" "0" "02325" "TNNI3_000117" "g.55663263C>T" "" "" "" "TNNI3(NM_000363.5):c.572G>A (p.W191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151895C>T" "" "pathogenic" "" "0000311940" "0" "30" "19" "55663229" "55663229" "subst" "8.12203E-6" "02325" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151861C>T" "" "likely benign" "" "0000311941" "0" "90" "19" "55663209" "55663209" "subst" "0" "02325" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000311943" "0" "10" "19" "55660537" "55660537" "subst" "0.853413" "02325" "TNNT1_000025" "g.55660537T>C" "" "" "" "TNNT1(NM_003283.6):c.-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55149169T>C" "" "benign" "" "0000314724" "0" "10" "19" "55663167" "55663167" "subst" "0.00321786" "02326" "TNNI3_000113" "g.55663167G>A" "" "" "" "TNNI3(NM_000363.4):c.*35C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151799G>A" "" "benign" "" "0000314725" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "02326" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156285C>T" "" "benign" "" "0000314726" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02326" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000314727" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "02326" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156248G>A" "" "likely benign" "" "0000314728" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "02326" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000314729" "0" "30" "19" "55668505" "55668505" "subst" "0.000171338" "02326" "TNNI3_000089" "g.55668505G>A" "" "" "" "TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157137G>A" "" "likely benign" "" "0000314730" "0" "50" "19" "55666189" "55666189" "subst" "6.50063E-5" "02326" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154821G>A" "" "VUS" "" "0000314731" "0" "30" "19" "55665578" "55665578" "subst" "0" "02326" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154210G>A" "" "likely benign" "" "0000314732" "0" "70" "19" "55665540" "55665540" "subst" "0" "02326" "TNNI3_000133" "g.55665540C>G" "" "" "" "TNNI3(NM_000363.4):c.407G>C (p.R136P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154172C>G" "" "likely pathogenic" "" "0000314733" "0" "70" "19" "55665454" "55665454" "subst" "0" "02326" "TNNI3_000127" "g.55665454C>T" "" "" "" "TNNI3(NM_000363.4):c.493G>A (p.E165K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154086C>T" "" "likely pathogenic" "" "0000314734" "0" "90" "19" "55665398" "55665398" "subst" "0" "02326" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154030C>G" "" "pathogenic" "" "0000314735" "0" "50" "19" "55668458" "55668458" "subst" "0" "02326" "TNNI3_000088" "g.55668458G>C" "" "" "" "TNNI3(NM_000363.4):c.68C>G (p.S23C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157090G>C" "" "VUS" "" "0000314736" "0" "70" "19" "55668438" "55668438" "subst" "0" "02326" "TNNI3_000087" "g.55668438C>T" "" "" "" "TNNI3(NM_000363.4):c.88G>A (p.A30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157070C>T" "" "likely pathogenic" "" "0000314738" "0" "10" "19" "55658387" "55658387" "subst" "0.0695832" "02326" "TNNT1_000014" "g.55658387T>C" "" "" "" "TNNT1(NM_003283.6):c.35A>G (p.E12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55147019T>C" "" "benign" "" "0000316838" "0" "10" "19" "55668397" "55668397" "subst" "0.0663405" "01943" "TNNI3_000001" "g.55668397C>T" "" "" "" "TNNI3(NM_000363.4):c.108+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157029C>T" "" "benign" "" "0000316839" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "01943" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156661G>T" "" "benign" "" "0000316841" "0" "10" "19" "55668703" "55668704" "delins" "0" "01943" "TNNI3_000093" "g.55668703_55668704delinsA" "" "" "" "TNNI3(NM_000363.4):c.12-28_12-27delCCinsT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157335_55157336delinsA" "" "benign" "" "0000316843" "0" "10" "19" "55668684" "55668684" "del" "0" "01943" "TNNI3_000092" "g.55668684del" "" "" "" "TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157316del" "" "benign" "" "0000316844" "0" "10" "19" "55667958" "55667958" "subst" "0.0181143" "01943" "TNNI3_000081" "g.55667958C>T" "" "" "" "TNNI3(NM_000363.4):c.150+13G>A, TNNI3(NM_000363.5):c.150+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156590C>T" "" "benign" "" "0000316845" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "01943" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156285C>T" "" "benign" "" "0000316846" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "01943" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000316847" "0" "50" "19" "55667620" "55667621" "delins" "0" "01943" "TNNI3_000143" "g.55667620_55667621delinsAA" "" "" "" "TNNI3(NM_000363.4):c.230_231delGCinsTT (p.S77I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156252_55156253delinsAA" "" "VUS" "" "0000316848" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "01943" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000316849" "0" "30" "19" "55667578" "55667578" "subst" "0.000355387" "01943" "TNNI3_000141" "g.55667578C>T" "" "" "" "TNNI3(NM_000363.4):c.273G>A (p.A91=), TNNI3(NM_000363.5):c.273G>A (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156210C>T" "" "likely benign" "" "0000316850" "0" "10" "19" "55666207" "55666207" "subst" "3.25198E-5" "01943" "TNNI3_000140" "g.55666207G>A" "" "" "" "TNNI3(NM_000363.4):c.283-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154839G>A" "" "benign" "" "0000316851" "0" "90" "19" "55666189" "55666189" "subst" "6.50063E-5" "01943" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154821G>A" "" "pathogenic" "" "0000316852" "0" "10" "19" "55666083" "55666083" "subst" "6.94887E-5" "01943" "TNNI3_000137" "g.55666083G>A" "" "" "" "TNNI3(NM_000363.4):c.372+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154715G>A" "" "benign" "" "0000316853" "0" "30" "19" "55665578" "55665578" "subst" "0" "01943" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154210G>A" "" "likely benign" "" "0000316854" "0" "50" "19" "55665571" "55665571" "subst" "0" "01943" "TNNI3_000134" "g.55665571C>T" "" "" "" "TNNI3(NM_000363.4):c.376G>A (p.A126T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154203C>T" "" "VUS" "" "0000316855" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "01943" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000316856" "0" "90" "19" "55665477" "55665477" "subst" "0" "01943" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000316857" "0" "50" "19" "55665456" "55665456" "subst" "0" "01943" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154088T>G" "" "VUS" "" "0000316858" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "01943" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000316859" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "01943" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000316860" "0" "10" "19" "55665404" "55665404" "subst" "0" "01943" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154036G>A" "" "benign" "" "0000316861" "0" "10" "19" "55663295" "55663295" "subst" "0.00054878" "01943" "TNNI3_000118" "g.55663295G>A" "" "" "" "TNNI3(NM_000363.4):c.550-10C>T, TNNI3(NM_000363.5):c.550-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151927G>A" "" "benign" "" "0000316862" "0" "90" "19" "55663209" "55663209" "subst" "0" "01943" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000326806" "0" "30" "19" "55667607" "55667607" "subst" "0.00144663" "01804" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "likely benign" "" "0000348060" "0" "70" "19" "55670785" "55670785" "dup" "0" "02327" "DNAAF3_000019" "g.55670785dup" "" "" "" "DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159417dup" "" "likely pathogenic" "" "0000355096" "0" "50" "19" "55665514" "55665514" "subst" "0" "00006" "TNNI3_000011" "g.55665514G>C" "" "{PMID10806205:Elliott 2000}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55154146G>C" "" "NA" "" "0000355097" "0" "50" "19" "55665514" "55665514" "subst" "0" "00006" "TNNI3_000011" "g.55665514G>C" "" "{PMID11801593:Lang 2002}" "" "" "tested extensively in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.55154146G>C" "" "NA" "" "0000355098" "0" "50" "19" "55665514" "55665514" "subst" "0" "00006" "TNNI3_000011" "g.55665514G>C" "" "{PMID11801593:Lang 2002}" "" "" "tested extensively in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.55154146G>C" "" "NA" "" "0000355099" "0" "50" "19" "55665463" "55665463" "subst" "4.07067E-5" "00006" "TNNI3_000013" "g.55665463G>A" "" "{PMID10806205:Elliott 2000}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55154095G>A" "" "NA" "" "0000355100" "0" "50" "19" "55663260" "55663260" "subst" "0" "00006" "TNNI3_000024" "g.55663260C>T" "" "{PMID15961398:Gomes 2005}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55151892C>T" "" "NA" "" "0000355101" "0" "50" "19" "55665415" "55665415" "subst" "0" "00006" "TNNI3_000025" "g.55665415T>C" "" "{PMID15961398:Gomes 2005}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55154047T>C" "" "NA" "" "0000355102" "0" "50" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "" "{PMID15961398:Gomes 2005}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55154146G>A" "" "NA" "" "0000355103" "0" "50" "19" "55665436" "55665436" "subst" "0" "00006" "TNNI3_000027" "g.55665436C>T" "" "{PMID15961398:Gomes 2005}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55154068C>T" "" "NA" "" "0000355104" "0" "50" "19" "55665516" "55665516" "subst" "0" "00006" "TNNI3_000028" "g.55665516A>T" "" "{PMID15961398:Gomes 2005}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.55154148A>T" "" "NA" "" "0000355105" "0" "50" "19" "55668953" "55668953" "subst" "3.25706E-5" "00006" "TNNI3_000039" "g.55668953G>A" "" "{PMID15070570:Murphy 2004}" "" "4C>T" "" "In vitro (cloned)" "" "" "0" "" "" "g.55157585G>A" "" "NA" "" "0000355106" "0" "50" "19" "55667595" "55667595" "subst" "0" "00006" "TNNI3_000077" "g.55667595C>T" "" "{PMID11801593:Lang 2002}" "" "" "tested extensively in vitro, no effect in addition to R145G" "In vitro (cloned)" "" "" "0" "" "" "g.55156227C>T" "" "NA" "" "0000355141" "0" "10" "19" "55668397" "55668397" "subst" "0.0663405" "00052" "TNNI3_000001" "g.55668397C>T" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55157029C>T" "" "benign" "" "0000355142" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "00052" "TNNI3_000002" "g.55668029G>T" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156661G>T" "" "benign" "" "0000355143" "0" "10" "19" "55668049" "55668049" "subst" "0.000140108" "00052" "TNNI3_000003" "g.55668049G>A" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156681G>A" "" "benign" "" "0000355144" "0" "10" "19" "55667947" "55667947" "subst" "0" "00052" "TNNI3_000004" "g.55667947T>C" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156579T>C" "" "benign" "" "0000355145" "0" "30" "19" "55667677" "55667677" "subst" "0" "00052" "TNNI3_000005" "g.55667677C>A" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156309C>A" "" "likely benign" "" "0000355146" "0" "30" "19" "55667631" "55667631" "subst" "8.46625E-6" "00052" "TNNI3_000006" "g.55667631G>T" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156263G>T" "" "likely benign" "" "0000355147" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "00052" "TNNI3_000007" "g.55667616G>A" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156248G>A" "" "likely benign" "" "0000355148" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "00052" "TNNI3_000008" "g.55668509A>T" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000355149" "0" "10" "19" "55667552" "55667552" "subst" "0" "00052" "TNNI3_000009" "g.55667552T>C" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55156184T>C" "" "benign" "" "0000355150" "0" "10" "19" "55665578" "55665578" "subst" "7.80935E-5" "00052" "TNNI3_000010" "g.55665578G>C" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154210G>C" "" "benign" "" "0000355151" "1" "90" "19" "55665514" "55665514" "subst" "0" "00052" "TNNI3_000011" "g.55665514G>C" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154146G>C" "" "pathogenic" "" "0000355152" "1" "90" "19" "55665513" "55665513" "subst" "1.62829E-5" "00052" "TNNI3_000012" "g.55665513C>T" "" "{PMID:Kimura 1997:09241277}, {OMIM191044:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55154145C>T" "" "pathogenic" "" "0000355153" "1" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "00052" "TNNI3_000013" "g.55665463G>A" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154095G>A" "" "pathogenic" "" "0000355154" "0" "10" "19" "55668478" "55668478" "subst" "0" "00052" "TNNI3_000014" "g.55668478T>C" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55157110T>C" "" "benign" "" "0000355155" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "00052" "TNNI3_000015" "g.55665410C>T" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000355156" "1" "90" "19" "55665400" "55665402" "del" "0" "00052" "TNNI3_000016" "g.55665400_55665402del" "" "{PMID:Kimura 1997:09241277}, {OMIM191044:0015}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154032_55154034del" "" "pathogenic" "" "0000355157" "0" "10" "19" "55665380" "55665380" "del" "0" "00052" "TNNI3_000017" "g.55665380del" "" "{PMID:Kimura 1997:09241277}" "" "c.549+19delC" "" "Germline" "?" "" "0" "" "" "g.55154012del" "" "benign" "" "0000355158" "0" "10" "19" "55663247" "55663247" "subst" "0" "00052" "TNNI3_000018" "g.55663247A>G" "" "{PMID:Kimura 1997:09241277}" "" "" "" "Germline" "?" "" "0" "" "" "g.55151879A>G" "" "benign" "" "0000355159" "1" "90" "19" "55663228" "55663228" "subst" "0" "00052" "TNNI3_000019" "g.55663228C>T" "" "{PMID:Kimura 1997:09241277}, {OMIM191044:0014}" "" "" "" "Germline" "?" "" "0" "" "" "g.55151860C>T" "" "pathogenic" "" "0000355160" "1" "90" "19" "55663219" "55663219" "subst" "0" "00052" "TNNI3_000020" "g.55663219T>G" "" "{PMID:Kimura 1997:09241277}, {OMIM191044:0002}" "" "" "" "De novo" "yes" "" "0" "" "" "g.55151851T>G" "" "pathogenic" "" "0000355161" "1" "90" "19" "55667607" "55667607" "subst" "0.00144663" "00052" "TNNI3_000021" "g.55667607G>A" "" "{PMID:Niimura 2002:11815426}, {OMIM191044:0003}" "" "" "" "Unknown" "?" "rs77615401" "0" "" "" "g.55156239G>A" "" "pathogenic" "" "0000355162" "1" "90" "19" "55663249" "55663249" "subst" "8.12282E-6" "00052" "TNNI3_000022" "g.55663249C>T" "" "{PMID:Niimura 2002:11815426}, {OMIM191044:0004}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55151881C>T" "" "pathogenic" "" "0000355163" "1" "90" "19" "55663266" "55663266" "subst" "0" "00052" "TNNI3_000023" "g.55663266T>C" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0005}" "" "A>G Asp190His>Gly" "mapped by linkage analysis LOD 4.8; erratum description variant" "Germline" "yes" "" "0" "" "" "g.55151898T>C" "" "pathogenic" "" "0000355164" "1" "90" "19" "55663260" "55663260" "subst" "0" "00006" "TNNI3_000024" "g.55663260C>T" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0006}" "HhaI-" "C>A Arg192His" "" "De novo" "yes" "" "0" "" "" "g.55151892C>T" "" "pathogenic" "" "0000355165" "1" "90" "19" "55665415" "55665415" "subst" "0" "00052" "TNNI3_000025" "g.55665415T>C" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0007}" "" "886A>G" "" "De novo" "yes" "" "0" "" "" "g.55154047T>C" "" "pathogenic" "" "0000355166" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00052" "TNNI3_000026" "g.55665514G>A" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0008}" "AciI+" "799C>T" "" "Unknown" "yes" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355167" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00052" "TNNI3_000026" "g.55665514G>A" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0008}" "AciI+" "799C>T" "" "Unknown" "yes" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355168" "1" "90" "19" "55665436" "55665436" "subst" "0" "00052" "TNNI3_000027" "g.55665436C>T" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0011}" "" "856G>A" "" "Unknown" "yes" "" "0" "" "" "g.55154068C>T" "" "pathogenic" "" "0000355169" "1" "90" "19" "55665516" "55665516" "subst" "0" "00052" "TNNI3_000028" "g.55665516A>T" "" "{PMID:Mogensen 2003:12531876}, {OMIM191044:0010}" "" "797T>A" "" "Unknown" "yes" "" "0" "" "" "g.55154148A>T" "" "pathogenic" "" "0000355170" "1" "90" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Richard 2003:12707239}" "" "R141Q" "" "Germline" "yes" "" "0" "" "" "g.55154157C>T" "" "pathogenic" "" "0000355171" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "" "{PMID:Richard 2003:12707239}" "" "A157V" "" "Germline" "yes" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355172" "1" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "00052" "TNNI3_000013" "g.55665463G>A" "" "{PMID:Richard 2003:12707239}" "" "R162P" "" "Germline" "yes" "" "0" "" "" "g.55154095G>A" "" "pathogenic" "" "0000355173" "1" "90" "19" "55665417" "55665419" "del" "0" "00006" "TNNI3_000031" "g.55665417_55665419del" "" "{PMID:Richard 2003:12707239}" "" "delK177" "" "De novo" "yes" "" "0" "" "" "g.55154049_55154051del" "" "pathogenic" "" "0000355174" "1" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "" "{PMID:Richard 2003:12707239}" "" "R186Q" "" "Germline" "yes" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000355175" "1" "90" "19" "55663249" "55663249" "subst" "8.12282E-6" "00006" "TNNI3_000022" "g.55663249C>T" "" "{PMID:Richard 2003:12707239}" "" "D196N" "" "Germline" "yes" "" "0" "" "" "g.55151881C>T" "" "pathogenic" "" "0000355176" "1" "90" "19" "55663196" "55663228" "del" "0" "00052" "TNNI3_000033" "g.55663196_55663228del" "" "{PMID:Morner 2000:10731450}, {PMID:Richard 2003:12707239}, {PMID:Morner 2003:12818575}" "" "G607; del33" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000355177" "1" "90" "19" "55665525" "55665525" "subst" "0" "00052" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154157C>T" "" "pathogenic" "" "0000355178" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "00052" "TNNI3_000034" "g.55665462C>T" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000355179" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "00052" "TNNI3_000034" "g.55665462C>T" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000355180" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00052" "TNNI3_000035" "g.55665450G>A" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355181" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00052" "TNNI3_000035" "g.55665450G>A" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355182" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00052" "TNNI3_000035" "g.55665450G>A" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355183" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00052" "TNNI3_000035" "g.55665450G>A" "" "{PMID:Erdmann 2003:12974739}" "" "4757C>T" "carries MYH7:C905F" "Germline" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355184" "0" "10" "19" "55668992" "55668992" "subst" "0.0196334" "00052" "TNNI3_000036" "g.55668992G>T" "" "{PMID:Erdmann 2003:12974739}" "" "5\'UTR-35 1215C>A" "" "Germline" "no" "" "0" "" "" "g.55157624G>T" "" "benign" "" "0000355185" "0" "10" "19" "55666187" "55666187" "subst" "0" "00052" "TNNI3_000037" "g.55666187T>C" "" "{PMID:Erdmann 2003:12974739}" "" "4020A>G R98R" "" "Germline" "no" "" "0" "" "" "g.55154819T>C" "" "benign" "" "0000355186" "0" "10" "19" "55669004" "55669004" "subst" "0.00689869" "00052" "TNNI3_000038" "g.55669004G>A" "" "{PMID:Erdmann 2003:12974739}" "" "5\'UTR-47C>T" "" "Germline" "no" "" "0" "" "" "g.55157636G>A" "" "benign" "" "0000355187" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "00052" "TNNI3_000008" "g.55668509A>T" "" "{PMID:Erdmann 2003:12974739}" "" "IVS2-8T>A 1698T>A" "" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000355188" "1" "90" "19" "55668953" "55668953" "subst" "3.25706E-5" "00052" "TNNI3_000039" "g.55668953G>A" "" "{PMID:Murphy 2004:15070570}, {OMIM191044:0009}" "" "4C>T" "" "Germline" "?" "" "0" "" "" "g.55157585G>A" "" "pathogenic" "" "0000355189" "2" "90" "19" "55668953" "55668953" "subst" "3.25706E-5" "00052" "TNNI3_000039" "g.55668953G>A" "" "{PMID:Murphy 2004:15070570}, {OMIM191044:0009}" "" "4C>T" "" "Germline" "?" "" "0" "" "" "g.55157585G>A" "" "pathogenic" "" "0000355190" "1" "90" "19" "55668953" "55668953" "subst" "3.25706E-5" "00006" "TNNI3_000039" "g.55668953G>A" "" "{PMID:Murphy 2004:15070570}, {OMIM191044:0009}" "" "4C>T" "" "Germline" "?" "" "0" "" "" "g.55157585G>A" "" "pathogenic" "" "0000355191" "1" "90" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg141Gln" "" "Germline" "no" "" "0" "" "" "g.55154157C>T" "" "pathogenic" "" "0000355192" "1" "90" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg141Gln" "" "Germline" "yes" "" "0" "" "" "g.55154157C>T" "" "pathogenic" "" "0000355193" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg145Trp" "" "Germline" "no" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355194" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg145Trp" "" "Germline" "no" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355195" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg145Trp" "" "Germline" "no" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355196" "1" "90" "19" "55665513" "55665513" "subst" "1.62829E-5" "00006" "TNNI3_000012" "g.55665513C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg145Gln" "" "Germline" "no" "" "0" "" "" "g.55154145C>T" "" "pathogenic" "" "0000355197" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ala157Val" "" "Germline" "no" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355198" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ala157Val" "" "Germline" "no" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355199" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ala157Val" "" "Germline" "yes" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355200" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg162Gln" "" "Germline" "no" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000355201" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg162Gln" "" "Germline" "yes" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000355202" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg162Gln" "" "Germline" "no" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000355203" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00006" "TNNI3_000035" "g.55665450G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ala157Val" "" "Germline" "no" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355204" "1" "90" "19" "55665400" "55665400" "subst" "0" "00006" "TNNI3_000040" "g.55665400T>C" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Lys183Glu" "" "Germline" "yes" "" "0" "" "" "g.55154032T>C" "" "pathogenic" "" "0000355205" "1" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg186Gln" "" "Germline" "no" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000355206" "1" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg186Gln" "" "Germline" "no" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000355207" "1" "90" "19" "55663249" "55663249" "subst" "8.12282E-6" "00006" "TNNI3_000022" "g.55663249C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Asp196Asn" "" "Germline" "no" "" "0" "" "" "g.55151881C>T" "" "pathogenic" "" "0000355208" "1" "90" "19" "55663249" "55663249" "subst" "8.12282E-6" "00006" "TNNI3_000022" "g.55663249C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Asp196Asn" "" "Germline" "no" "" "0" "" "" "g.55151881C>T" "" "pathogenic" "" "0000355209" "1" "90" "19" "55663239" "55663239" "subst" "0" "00006" "TNNI3_000041" "g.55663239C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ser199Asn" "" "Germline" "no" "" "0" "" "" "g.55151871C>T" "" "pathogenic" "" "0000355210" "1" "90" "19" "55663239" "55663239" "subst" "0" "00006" "TNNI3_000041" "g.55663239C>T" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ser199Asn" "" "Germline" "no" "" "0" "" "" "g.55151871C>T" "" "pathogenic" "" "0000355211" "1" "90" "19" "55663240" "55663240" "subst" "0" "00006" "TNNI3_000042" "g.55663240T>C" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Ser199Gly" "" "Germline" "yes" "" "0" "" "" "g.55151872T>C" "" "pathogenic" "" "0000355212" "1" "90" "19" "55663230" "55663230" "subst" "0" "00006" "TNNI3_000043" "g.55663230T>C" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Glu202Gly" "" "Germline" "yes" "" "0" "" "" "g.55151862T>C" "" "pathogenic" "" "0000355213" "1" "90" "19" "55663228" "55663228" "subst" "0" "00006" "TNNI3_000044" "g.55663228C>G" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Gly203Arg" "" "Germline" "no" "" "0" "" "" "g.55151860C>G" "" "pathogenic" "" "0000355214" "0" "10" "19" "55667616" "55667616" "subst" "0.00044576" "00006" "TNNI3_000007" "g.55667616G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Arg79Cys" "" "Germline" "no" "" "0" "" "" "g.55156248G>A" "" "benign" "" "0000355215" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "00006" "TNNI3_000021" "g.55667607G>A" "1/280 cases" "{PMID:Mogensen 2004:15607392}" "" "Pro82Ser" "frequency 0.03 in controls" "Germline" "no" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000355216" "1" "90" "19" "55663242" "55663242" "subst" "0" "00006" "TNNI3_000045" "g.55663242A>G" "1/120 cases" "{PMID:Doolan 2005:15698845}" "" "" "" "De novo" "yes" "" "0" "" "" "g.55151874A>G" "" "pathogenic" "" "0000355217" "1" "90" "19" "55663224" "55663224" "subst" "0" "00006" "TNNI3_000046" "g.55663224C>T" "1/120 cases" "{PMID:Doolan 2005:15698845}" "" "" "" "Germline" "no" "" "0" "" "" "g.55151856C>T" "" "pathogenic" "" "0000355218" "1" "90" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "1/120 cases" "{PMID:Doolan 2005:15698845}" "" "" "" "Germline" "no" "" "0" "" "" "g.55154094C>T" "" "pathogenic" "" "0000355219" "1" "90" "19" "55665462" "55665462" "subst" "0" "00006" "TNNI3_000047" "g.55665462C>G" "1/120 cases" "{PMID:Doolan 2005:15698845}" "" "" "" "Germline" "no" "" "0" "" "" "g.55154094C>G" "" "pathogenic" "" "0000355220" "0" "10" "19" "55667590" "55667590" "subst" "0" "00006" "TNNI3_000048" "g.55667590C>A" "5/120 cases" "{PMID:Doolan 2005:15698845}" "" "codon86G>T" "" "Germline" "no" "" "0" "" "" "g.55156222C>A" "" "benign" "" "0000355221" "0" "10" "19" "55667607" "55667607" "subst" "0" "00006" "TNNI3_000049" "g.55667607G>T" "13/120 cases" "{PMID:Doolan 2005:15698845}" "" "C>A Pro82Thr" "" "Germline" "no" "" "0" "" "" "g.55156239G>T" "" "benign" "" "0000355222" "0" "10" "19" "55667598" "55667598" "subst" "0" "00006" "TNNI3_000050" "g.55667598A>T" "13/120 cases" "{PMID:Doolan 2005:15698845}" "" "T>A Leu85Met" "" "Germline" "no" "" "0" "" "" "g.55156230A>T" "" "benign" "" "0000355223" "0" "10" "19" "55667594" "55667594" "subst" "0" "00006" "TNNI3_000051" "g.55667594G>T" "12/120 cases" "{PMID:Doolan 2005:15698845}" "" "C>A Ala86Asp" "" "Germline" "no" "" "0" "" "" "g.55156226G>T" "" "benign" "" "0000355224" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "00006" "TNNI3_000015" "g.55665410C>T" "9/120 cases" "{PMID:Doolan 2005:15698845}" "" "codon179G>A" "" "Germline" "no" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000355225" "1" "90" "19" "55668465" "55668465" "subst" "0" "00052" "TNNI3_000052" "g.55668465G>A" "" "{PMID:Arad 2005:16267253}, {OMIM191044:0016}" "" "R21C" "" "Germline" "yes" "" "0" "" "" "g.55157097G>A" "" "pathogenic" "" "0000355226" "1" "70" "19" "55665558" "55665558" "subst" "0" "00052" "TNNI3_000053" "g.55665558T>C" "2/4068 cases" "{PMID:Morita 2006:16754800}" "" "A>G" "not in 4020 other participants" "Germline" "yes" "" "0" "" "" "g.55154190T>C" "" "likely pathogenic" "" "0000355227" "1" "90" "19" "55665446" "55665446" "del" "0" "00006" "TNNI3_000054" "g.55665446del" "" "{PMID:Kostareva 2009:18006163}" "" "4762delG" "not in 200 other participants" "Germline" "yes" "" "0" "" "" "g.55154078del" "" "pathogenic" "" "0000355228" "1" "50" "19" "55667607" "55667607" "subst" "0.00144663" "00052" "TNNI3_000021" "g.55667607G>A" "" "{PMID:Frazier 2008:18175163}, {OMIM191044:0003}" "" "" "modifier, carries MYH7:1357C>A (R453S)" "Germline" "yes" "" "0" "" "" "g.55156239G>A" "" "VUS" "" "0000355229" "0" "50" "19" "55667607" "55667607" "subst" "0.00144663" "00052" "TNNI3_000021" "g.55667607G>A" "3/100 control" "{PMID:Frazier 2008:18175163}, {OMIM191044:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55156239G>A" "" "VUS" "" "0000355230" "1" "90" "19" "55665417" "55665418" "del" "0" "00006" "TNNI3_000055" "g.55665417_55665418del" "" "{PMID:Kaski 2008:18467357}" "" "4789_4790delAA" "" "Germline" "yes" "" "0" "" "" "g.55154049_55154050del" "" "pathogenic" "" "0000355231" "1" "90" "19" "55665415" "55665415" "subst" "0" "00006" "TNNI3_000025" "g.55665415T>C" "" "{PMID:Kaski 2008:18467357}" "" "4792A>G" "" "De novo" "yes" "" "0" "" "" "g.55154047T>C" "" "pathogenic" "" "0000355232" "1" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Curila 2009:19645627}" "" "Arg141Gln" "" "Unknown" "?" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000355233" "1" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Curila 2009:19645627}" "" "Arg141Gln" "" "Unknown" "?" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000355234" "1" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Curila 2009:19645627}" "" "Arg141Gln" "" "Unknown" "?" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000355235" "1" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Curila 2009:19645627}" "" "Arg141Gln" "" "Unknown" "?" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000355236" "1" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "" "{PMID:Curila 2009:19645627}" "" "Arg141Gln" "" "Unknown" "?" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000355237" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "" "{PMID:Curila 2009:19645627}" "" "Ala157Val" "" "Germline" "yes" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355238" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "" "{PMID:Curila 2009:19645627}" "" "Ala157Val" "" "Germline" "yes" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355239" "1" "90" "19" "55665438" "55665438" "subst" "0" "00006" "TNNI3_000056" "g.55665438C>T" "" "{PMID:Kaski 2009:20031618}" "" "g.4769G>A" "" "Unknown" "" "" "0" "" "" "g.55154070C>T" "" "pathogenic" "" "0000355240" "1" "90" "19" "55665568" "55665568" "subst" "0" "00006" "TNNI3_000057" "g.55665568C>A" "1/65 cases" "{PMID:Sheng 2008:19134270}" "" "Asp127Tyr" "" "Unknown" "?" "" "0" "" "" "g.55154200C>A" "" "pathogenic" "" "0000355241" "10" "30" "19" "55668509" "55668509" "subst" "0.316642" "00052" "TNNI3_000008" "g.55668509A>T" "" "{PMID:Carballo 2009:19590045}, {OMIM191044:0012}" "" "IVS3-8T>A" "" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "likely benign" "" "0000355242" "21" "30" "19" "55668509" "55668509" "subst" "0.316642" "00052" "TNNI3_000008" "g.55668509A>T" "" "{PMID:Carballo 2009:19590045}, {OMIM191044:0012}" "" "IVS3-8T>A" "" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "likely benign" "" "0000355243" "10" "90" "19" "55668420" "55668420" "subst" "0" "00052" "TNNI3_000058" "g.55668420T>G" "1/94 cases" "{PMID:Carballo 2009:19590045}, {OMIM191044:0012}" "" "" "not in 280 control chromosomes; linked to IVS3-8T>A (probably IVS2 meant)" "Germline" "yes" "" "0" "" "" "g.55157052T>G" "" "pathogenic" "" "0000355244" "11" "90" "19" "55663280" "55663280" "subst" "0" "00052" "TNNI3_000059" "g.55663280G>C" "1/94 cases" "{PMID:Carballo 2009:19590045}, {OMIM191044:0013}" "" "" "not in 280 control chromosomes" "Germline" "yes" "" "0" "" "" "g.55151912G>C" "" "pathogenic" "" "0000355245" "1" "70" "19" "55667630" "55667630" "subst" "0" "00052" "TNNI3_000060" "g.55667630C>G" "" "{PMID:Boda 2009:20086309}" "" "2577G>C" "" "Unknown" "yes" "" "0" "" "" "g.55156262C>G" "" "likely pathogenic" "" "0000355246" "2" "70" "19" "55667630" "55667630" "subst" "0" "00052" "TNNI3_000060" "g.55667630C>G" "" "{PMID:Boda 2009:20086309}" "" "2577G>C" "" "Unknown" "yes" "" "0" "" "" "g.55156262C>G" "" "likely pathogenic" "" "0000355247" "1" "90" "19" "55667580" "55667580" "subst" "0" "00052" "TNNI3_000061" "g.55667580C>T" "" "{PMID:Boda 2009:20086309}" "" "2627G>A" "" "Unknown" "yes" "" "0" "" "" "g.55156212C>T" "" "pathogenic" "" "0000355248" "1" "70" "19" "55665408" "55665408" "subst" "0" "00052" "TNNI3_000062" "g.55665408T>C" "1/312 cases" "{PMID:Hershberger 2010:20215591}" "" "5697G>A" "" "Unknown" "yes" "" "0" "" "" "g.55154040T>C" "" "likely pathogenic" "" "0000355249" "1" "70" "19" "55665408" "55665408" "subst" "0" "00006" "TNNI3_000062" "g.55665408T>C" "1/312 cases" "{PMID:Hershberger 2010:20215591}" "" "5697G>A" "" "Unknown" "yes" "" "0" "" "" "g.55154040T>C" "" "likely pathogenic" "" "0000355250" "0" "70" "19" "55663224" "55663224" "subst" "0" "00052" "TNNI3_000046" "g.55663224C>T" "" "{PMID:Yang 2010:20569525}" "" "R204H" "variant not in mother, father unavialable" "Unknown" "yes" "" "0" "" "" "g.55151856C>T" "" "likely pathogenic" "" "0000355251" "1" "90" "19" "55665540" "55665540" "subst" "4.07671E-6" "00006" "TNNI3_000063" "g.55665540C>T" "1/192 cases" "{PMID:Millat 2010:20624503}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.55154172C>T" "" "pathogenic" "" "0000355252" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/192 cases" "{PMID:Millat 2010:20624503}" "" "" "" "Unknown" "yes" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355253" "1" "90" "19" "55665498" "55665498" "subst" "0" "00006" "TNNI3_000064" "g.55665498G>C" "1/192 cases" "{PMID:Millat 2010:20624503}" "" "448A>T" "" "Unknown" "yes" "" "0" "" "" "g.55154130G>C" "" "pathogenic" "" "0000355254" "1" "90" "19" "55665398" "55665398" "subst" "0" "00006" "TNNI3_000065" "g.55665398C>A" "1/192 cases" "{PMID:Millat 2010:20624503}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.55154030C>A" "" "pathogenic" "" "0000355255" "1" "90" "19" "55665398" "55665398" "subst" "0" "00006" "TNNI3_000065" "g.55665398C>A" "1/192 cases" "{PMID:Millat 2010:20624503}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.55154030C>A" "" "pathogenic" "" "0000355256" "1" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "1/192 cases" "{PMID:Millat 2010:20624503}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000355257" "1" "90" "19" "55668480" "55668480" "subst" "0" "00006" "TNNI3_000066" "g.55668480G>T" "1/36 cases" "{PMID:Murakami 2010:20817590}" "" "" "not in 440 control chromosomes" "Unknown" "yes" "" "0" "" "" "g.55157112G>T" "" "pathogenic" "" "0000355258" "1" "30" "19" "55667616" "55667616" "subst" "0.00044576" "00006" "TNNI3_000007" "g.55667616G>A" "" "{PMID:Murakami 2010:20817590}" "" "Arg79Cys" "found in controls" "Germline" "no" "" "0" "" "" "g.55156248G>A" "" "likely benign" "" "0000355259" "1" "50" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "homozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "VUS" "" "0000355260" "2" "50" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "homozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "VUS" "" "0000355261" "1" "50" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "heterozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "VUS" "" "0000355262" "1" "70" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "homozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "likely pathogenic" "" "0000355263" "2" "70" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "homozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "likely pathogenic" "" "0000355264" "1" "70" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "heterozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "likely pathogenic" "" "0000355265" "1" "50" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "homozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "VUS" "" "0000355266" "2" "50" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "homozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "VUS" "" "0000355267" "1" "50" "19" "55668509" "55668509" "subst" "0.316642" "00006" "TNNI3_000008" "g.55668509A>T" "" "" "" "IVS3-8T>A" "heterozygous individuals" "Germline" "no" "" "0" "" "" "g.55157141A>T" "" "VUS" "" "0000355268" "0" "50" "19" "55665513" "55665513" "subst" "1.62829E-5" "00006" "TNNI3_000012" "g.55665513C>T" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "somatic mosiacism" "Somatic" "no" "" "0" "" "" "g.55154145C>T" "" "VUS" "" "0000355269" "1" "90" "19" "55663261" "55663261" "subst" "0" "00006" "TNNI3_000067" "g.55663261G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "?" "" "0" "" "" "g.55151893G>A" "" "pathogenic" "" "0000355270" "1" "90" "19" "55665396" "55665396" "del" "0" "00006" "TNNI3_000068" "g.55665396del" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "c.549+2delT" "" "De novo" "yes" "" "0" "" "" "g.55154028del" "" "pathogenic" "" "0000355271" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00006" "TNNI3_000035" "g.55665450G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Unknown" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355272" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00006" "TNNI3_000035" "g.55665450G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355273" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "?" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355274" "1" "90" "19" "55665456" "55665456" "subst" "0" "00006" "TNNI3_000069" "g.55665456T>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55154088T>G" "" "pathogenic" "" "0000355275" "1" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "00006" "TNNI3_000035" "g.55665450G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "?" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000355276" "1" "50" "19" "55665408" "55665408" "subst" "0" "00006" "TNNI3_000062" "g.55665408T>C" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154040T>C" "" "VUS" "" "0000355277" "1" "90" "19" "55663209" "55663209" "subst" "0" "00006" "TNNI3_000070" "g.55663209T>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "?" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000355278" "1" "90" "19" "55663209" "55663209" "subst" "0" "00006" "TNNI3_000070" "g.55663209T>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "?" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000355279" "1" "90" "19" "55663209" "55663209" "subst" "0" "00006" "TNNI3_000070" "g.55663209T>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000355280" "1" "90" "19" "55665417" "55665419" "del" "0" "00006" "TNNI3_000031" "g.55665417_55665419del" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "532_534delAAG" "" "De novo" "?" "" "0" "" "" "g.55154049_55154051del" "" "pathogenic" "" "0000355281" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "?" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355282" "1" "50" "19" "55663209" "55663209" "subst" "0" "00006" "TNNI3_000070" "g.55663209T>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55151841T>G" "" "VUS" "" "0000355283" "1" "50" "19" "55665450" "55665450" "subst" "8.13935E-6" "00006" "TNNI3_000035" "g.55665450G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "yes" "" "0" "" "" "g.55154082G>A" "" "VUS" "" "0000355284" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Unknown" "?" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355285" "1" "90" "19" "55663233" "55663233" "subst" "0" "00006" "TNNI3_000071" "g.55663233A>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "De novo" "?" "" "0" "" "" "g.55151865A>G" "" "pathogenic" "" "0000355286" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Unknown" "?" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355287" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "?" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355288" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355289" "1" "50" "19" "55665398" "55665398" "subst" "0" "00006" "TNNI3_000072" "g.55665398C>G" "1/1040 CM cases" "{PMID:Millat 2010:20624503}" "" "" "" "Unknown" "no" "" "0" "" "" "g.55154030C>G" "" "VUS" "" "0000355290" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "yes" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355291" "1" "50" "19" "55667684" "55667684" "subst" "2.60396E-5" "00006" "TNNI3_000073" "g.55667684A>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55156316A>G" "" "VUS" "" "0000355292" "1" "90" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55154157C>T" "" "pathogenic" "" "0000355293" "1" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Unknown" "?" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000355294" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Unknown" "?" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355295" "1" "90" "19" "55663280" "55663280" "subst" "0" "00006" "TNNI3_000059" "g.55663280G>C" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55151912G>C" "" "pathogenic" "" "0000355296" "1" "90" "19" "55663209" "55663209" "subst" "0" "00006" "TNNI3_000070" "g.55663209T>G" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55151841T>G" "" "pathogenic" "" "0000355297" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "yes" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355298" "1" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "1/1040 CM cases" "{PMID:van den Wijngaard 2011:21533915}" "" "" "shared 0.5M Dutch haplotype" "Germline" "?" "rs28934871" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000355299" "1" "90" "19" "55667593" "55667594" "del" "0" "00006" "TNNI3_000074" "g.55667593_55667594del" "" "{PMID:Olivotto 2011:21835320}" "" "257_258delCC" "" "Unknown" "?" "" "0" "" "" "g.55156225_55156226del" "" "pathogenic" "" "0000355301" "1" "70" "19" "55666134" "55666134" "subst" "1.62487E-5" "00006" "TNNI3_000076" "g.55666134G>C" "1/105 cmd cases" "{PMID:Millat 2011:21846512}" "" "" "not in 400 control chromosomes" "Unknown" "?" "" "0" "" "" "g.55154766G>C" "" "likely pathogenic" "" "0000355302" "0" "50" "19" "55667595" "55667595" "subst" "0" "00006" "TNNI3_000077" "g.55667595C>T" "" "{PMID:Vallins 1990:02226790}" "" "" "cloned cDNA, possible sequence error" "Unknown" "" "" "0" "" "" "g.55156227C>T" "" "VUS" "" "0000355303" "1" "90" "19" "55663260" "55663260" "subst" "0" "00006" "TNNI3_000024" "g.55663260C>T" "" "{PMID:Rai 2009:19449150}" "HhaI-" "g.6467G>A" "" "Unknown" "?" "" "0" "" "" "g.55151892C>T" "" "pathogenic" "" "0000355304" "1" "90" "19" "55663250" "55663250" "subst" "0" "00006" "TNNI3_000078" "g.55663250G>C" "" "CardioGenomics database" "" "g.6477C>G" "from genepath.med.harvard.edu/~seidman/cg3/genes/TNNI3_info.html" "Unknown" "?" "" "0" "" "" "g.55151882G>C" "" "pathogenic" "" "0000355305" "1" "70" "19" "55663225" "55663225" "subst" "0" "00006" "TNNI3_000079" "g.55663225G>A" "" "CardioGenomics database" "AciI-" "g.6502G>T" "from genepath.med.harvard.edu/~seidman/cg3/muts/TNNI3_info.html" "Unknown" "?" "" "0" "" "" "g.55151857G>A" "" "likely pathogenic" "" "0000434678" "3" "70" "19" "55663249" "55663249" "subst" "0" "03069" "TNNI3_000151" "g.55663249C>G" "" "{PMID:Pantou 2019:30953456}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55151881C>G" "" "pathogenic (dominant)" "" "0000459050" "0" "90" "19" "55663245" "55663254" "del" "0" "02588" "TNNI3_000152" "g.55663245_55663254del" "" "{PMID:Shah 2017:28174160}" "" "" "" "Germline" "" "" "0" "" "" "g.55151877_55151886del" "" "pathogenic" "" "0000470534" "1" "70" "19" "55668420" "55668420" "subst" "0" "00006" "TNNI3_000058" "g.55668420T>G" "" "{PMID:Marston 2015:26406308}" "" "K36Q" "" "Germline" "" "" "0" "" "" "g.55157052T>G" "" "likely pathogenic" "" "0000471087" "0" "90" "19" "55665540" "55665540" "subst" "4.07671E-6" "03236" "TNNI3_000063" "g.55665540C>T" "ALL:0.00040%" "" "" "" "" "Germline" "?" "rs730881069" "0" "" "" "g.55154172C>T" "" "pathogenic" "" "0000471088" "0" "90" "19" "55665438" "55665438" "subst" "0" "03236" "TNNI3_000056" "g.55665438C>T" "0" "" "" "" "" "De novo" "" "rs727503503" "0" "" "" "g.55154070C>T" "" "pathogenic (dominant)" "" "0000568460" "0" "30" "19" "55658397" "55658397" "subst" "0.0481959" "01804" "TNNI3_000153" "g.55658397C>T" "" "" "" "TNNT1(NM_001126132.1):c.33-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55147029C>T" "" "likely benign" "" "0000568461" "0" "50" "19" "55663225" "55663225" "subst" "0" "02326" "TNNI3_000079" "g.55663225G>A" "" "" "" "TNNI3(NM_000363.4):c.610C>T (p.R204C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151857G>A" "" "VUS" "" "0000568462" "0" "30" "19" "55663229" "55663229" "subst" "8.12203E-6" "02326" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151861C>T" "" "likely benign" "" "0000568465" "0" "50" "19" "55663269" "55663269" "subst" "0" "02326" "TNNI3_000154" "g.55663269C>T" "" "" "" "TNNI3(NM_000363.4):c.566G>A (p.G189E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151901C>T" "" "VUS" "" "0000568466" "0" "30" "19" "55663295" "55663295" "subst" "0.00054878" "02327" "TNNI3_000118" "g.55663295G>A" "" "" "" "TNNI3(NM_000363.4):c.550-10C>T, TNNI3(NM_000363.5):c.550-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151927G>A" "" "likely benign" "" "0000568467" "0" "50" "19" "55665325" "55665330" "del" "0" "02327" "DNAAF3_000020" "g.55665325_55665330del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55153957_55153962del" "" "VUS" "" "0000568468" "0" "30" "19" "55665328" "55665329" "ins" "0" "02327" "DNAAF3_000021" "g.55665328_55665329insCTAGGC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55153960_55153961insCTAGGC" "" "likely benign" "" "0000568469" "0" "30" "19" "55665404" "55665404" "subst" "0" "02326" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154036G>A" "" "likely benign" "" "0000568470" "0" "70" "19" "55665408" "55665408" "subst" "0" "02325" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154040T>C" "" "likely pathogenic" "" "0000568471" "0" "50" "19" "55665408" "55665408" "subst" "0" "02326" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154040T>C" "" "VUS" "" "0000568472" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02327" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154042C>T" "" "benign" "" "0000568474" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02327" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154082G>A" "" "pathogenic" "" "0000568475" "0" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "02330" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154095G>A" "" "pathogenic" "" "0000568476" "0" "50" "19" "55665463" "55665463" "subst" "4.07067E-5" "01943" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154095G>A" "" "VUS" "" "0000568477" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02326" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154146G>A" "" "pathogenic" "" "0000568478" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "02330" "DNAAF3_000022" "g.55665519G>T" "" "" "" "TNNI3(NM_000363.5):c.428C>A (p.T143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154151G>T" "" "VUS" "" "0000568479" "0" "70" "19" "55665526" "55665526" "subst" "0" "02330" "DNAAF3_000023" "g.55665526G>A" "" "" "" "TNNI3(NM_000363.4):c.421C>T (p.R141W), TNNI3(NM_000363.5):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154158G>A" "" "likely pathogenic" "" "0000568480" "0" "50" "19" "55665526" "55665526" "subst" "0" "01943" "DNAAF3_000023" "g.55665526G>A" "" "" "" "TNNI3(NM_000363.4):c.421C>T (p.R141W), TNNI3(NM_000363.5):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154158G>A" "" "VUS" "" "0000568481" "0" "10" "19" "55665578" "55665578" "subst" "0" "02330" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154210G>A" "" "benign" "" "0000568482" "0" "30" "19" "55665578" "55665578" "subst" "0" "02327" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154210G>A" "" "likely benign" "" "0000568483" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02327" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154216=" "" "benign" "" "0000568484" "0" "10" "19" "55665589" "55665589" "subst" "0.000289306" "02330" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154221G>C" "" "benign" "" "0000568485" "0" "30" "19" "55665589" "55665589" "subst" "0.000289306" "02327" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154221G>C" "" "likely benign" "" "0000568487" "0" "50" "19" "55666188" "55666188" "subst" "1.62513E-5" "02327" "DNAAF3_000026" "g.55666188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154820C>T" "" "VUS" "" "0000568488" "0" "50" "19" "55667615" "55667615" "subst" "3.7859E-5" "02330" "DNAAF3_000027" "g.55667615C>A" "" "" "" "TNNI3(NM_000363.5):c.236G>T (p.R79L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156247C>A" "" "VUS" "" "0000568489" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "02327" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156248G>A" "" "likely benign" "" "0000568491" "0" "30" "19" "55667644" "55667644" "subst" "3.84625E-5" "02326" "DNAAF3_000029" "g.55667644G>C" "" "" "" "TNNI3(NM_000363.4):c.207C>G (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156276G>C" "" "likely benign" "" "0000568492" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02327" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156279C>A" "" "benign" "" "0000568493" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "02327" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156285C>T" "" "benign" "" "0000568494" "0" "50" "19" "55667684" "55667684" "subst" "2.60396E-5" "02330" "TNNI3_000073" "g.55667684A>G" "" "" "" "TNNI3(NM_000363.5):c.167T>C (p.I56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156316A>G" "" "VUS" "" "0000568495" "0" "50" "19" "55667705" "55667706" "ins" "0" "02330" "DNAAF3_000030" "g.55667705_55667706insCTA" "" "" "" "TNNI3(NM_000363.5):c.151-5_151-4insAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156337_55156338insCTA" "" "VUS" "" "0000568496" "0" "10" "19" "55667806" "55667806" "subst" "0" "02327" "DNAAF3_000031" "g.55667806T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156438T>C" "" "benign" "" "0000568497" "0" "30" "19" "55667927" "55667927" "subst" "0" "02327" "DNAAF3_000032" "g.55667927C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156559C>A" "" "likely benign" "" "0000568498" "0" "30" "19" "55667958" "55667958" "subst" "0.0181143" "02327" "TNNI3_000081" "g.55667958C>T" "" "" "" "TNNI3(NM_000363.4):c.150+13G>A, TNNI3(NM_000363.5):c.150+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156590C>T" "" "likely benign" "" "0000568499" "0" "50" "19" "55667982" "55667982" "subst" "4.6463E-5" "02327" "TNNI3_000082" "g.55667982A>G" "" "" "" "TNNI3(NM_000363.5):c.139T>C (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156614A>G" "" "VUS" "" "0000568500" "0" "50" "19" "55667994" "55667994" "subst" "0" "02326" "DNAAF3_000033" "g.55667994C>A" "" "" "" "TNNI3(NM_000363.4):c.127G>T (p.A43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156626C>A" "" "VUS" "" "0000568501" "0" "90" "19" "55668012" "55668012" "dup" "0" "01943" "DNAAF3_000034" "g.55668012dup" "" "" "" "TNNI3(NM_000363.4):c.114dupA (p.S39Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156644dup" "" "pathogenic" "" "0000568502" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "02327" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156661G>T" "" "benign" "" "0000568503" "0" "30" "19" "55668049" "55668049" "subst" "0.000140108" "02327" "TNNI3_000003" "g.55668049G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156681G>A" "" "likely benign" "" "0000568504" "0" "10" "19" "55668310" "55668310" "subst" "0" "02327" "DNAAF3_000035" "g.55668310C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156942C>G" "" "benign" "" "0000568505" "0" "10" "19" "55668329" "55668329" "subst" "0" "02327" "DNAAF3_000036" "g.55668329C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156961C>T" "" "benign" "" "0000568506" "0" "30" "19" "55668384" "55668384" "subst" "3.03627E-5" "02327" "DNAAF3_000037" "g.55668384G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157016G>A" "" "likely benign" "" "0000568507" "0" "10" "19" "55668397" "55668397" "subst" "0.0663405" "02327" "TNNI3_000001" "g.55668397C>T" "" "" "" "TNNI3(NM_000363.4):c.108+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157029C>T" "" "benign" "" "0000568508" "0" "30" "19" "55668471" "55668471" "subst" "3.56843E-5" "02326" "DNAAF3_000038" "g.55668471T>C" "" "" "" "TNNI3(NM_000363.4):c.55A>G (p.I19V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157103T>C" "" "likely benign" "" "0000568509" "0" "30" "19" "55668481" "55668481" "subst" "0" "02330" "DNAAF3_000039" "g.55668481T>G" "" "" "" "TNNI3(NM_000363.5):c.45A>C (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157113T>G" "" "likely benign" "" "0000568510" "0" "30" "19" "55668505" "55668505" "subst" "0.000171338" "01943" "TNNI3_000089" "g.55668505G>A" "" "" "" "TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157137G>A" "" "likely benign" "" "0000568511" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "02327" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157141A>T" "" "benign" "" "0000568512" "0" "10" "19" "55668511" "55668511" "subst" "0" "02327" "DNAAF3_000040" "g.55668511G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157143G>C" "" "benign" "" "0000568513" "0" "10" "19" "55668529" "55668529" "subst" "0" "02327" "DNAAF3_000041" "g.55668529C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157161C>G" "" "benign" "" "0000568514" "0" "10" "19" "55668725" "55668728" "dup" "0" "01943" "DNAAF3_000042" "g.55668725_55668728dup" "" "" "" "TNNI3(NM_000363.4):c.12-50_12-47dupACAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157357_55157360dup" "" "benign" "" "0000568516" "0" "10" "19" "55668803" "55668803" "subst" "0" "02327" "DNAAF3_000043" "g.55668803T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157435T>C" "" "benign" "" "0000568517" "0" "10" "19" "55668992" "55668992" "subst" "0.0196334" "02327" "TNNI3_000036" "g.55668992G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157624G>T" "" "benign" "" "0000568518" "0" "10" "19" "55669004" "55669004" "subst" "0.00689869" "02327" "TNNI3_000038" "g.55669004G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157636G>A" "" "benign" "" "0000568519" "0" "10" "19" "55669055" "55669055" "subst" "0.0104909" "02327" "DNAAF3_000044" "g.55669055G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157687G>T" "" "benign" "" "0000568520" "0" "30" "19" "55669140" "55669140" "del" "0" "02327" "DNAAF3_000045" "g.55669140del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157772del" "" "likely benign" "" "0000568521" "0" "30" "19" "55670651" "55670651" "subst" "0.00212085" "01804" "DNAAF3_000002" "g.55670651C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159283C>T" "" "likely benign" "" "0000568523" "0" "50" "19" "55670702" "55670702" "subst" "4.06177E-6" "02329" "DNAAF3_000046" "g.55670702C>G" "" "" "" "DNAAF3(NM_001256716.1):c.1192G>C (p.A398P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159334C>G" "" "VUS" "" "0000568524" "0" "90" "19" "55670785" "55670785" "dup" "0" "02329" "DNAAF3_000019" "g.55670785dup" "" "" "" "DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159417dup" "" "pathogenic" "" "0000568525" "0" "30" "19" "55672055" "55672055" "subst" "0.0974433" "01943" "DNAAF3_000047" "g.55672055A>G" "" "" "" "DNAAF3(NM_001256714.1):c.1205T>C (p.L402P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55160687A>G" "" "likely benign" "" "0000568528" "0" "30" "19" "55673662" "55673662" "del" "0.0014966" "01804" "DNAAF3_000050" "g.55673662del" "" "" "" "DNAAF3(NM_001256714.1):c.527-4delG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55162294del" "" "likely benign" "" "0000568529" "0" "50" "19" "55673663" "55673663" "subst" "0" "01804" "DNAAF3_000051" "g.55673663G>T" "" "" "" "DNAAF3(NM_001256715.2):c.323-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55162295G>T" "" "VUS" "" "0000617871" "0" "30" "19" "55663229" "55663229" "subst" "8.12203E-6" "02327" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151861C>T" "" "likely benign" "" "0000617872" "0" "30" "19" "55663250" "55663250" "subst" "6.09196E-5" "02327" "TNNI3_000156" "g.55663250G>A" "" "" "" "TNNI3(NM_000363.4):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151882G>A" "" "likely benign" "" "0000617873" "0" "10" "19" "55663298" "55663298" "subst" "4.88102E-5" "02330" "TNNI3_000157" "g.55663298G>A" "" "" "" "TNNI3(NM_000363.5):c.550-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151930G>A" "" "benign" "" "0000617876" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "02327" "DNAAF3_000022" "g.55665519G>T" "" "" "" "TNNI3(NM_000363.5):c.428C>A (p.T143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154151G>T" "" "VUS" "" "0000617878" "0" "30" "19" "55665563" "55665563" "subst" "1.63592E-5" "02327" "DNAAF3_000053" "g.55665563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154195C>T" "" "likely benign" "" "0000617879" "0" "50" "19" "55666183" "55666183" "subst" "8.1248E-6" "02327" "DNAAF3_000054" "g.55666183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154815G>A" "" "VUS" "" "0000617881" "0" "30" "19" "55667605" "55667605" "subst" "2.9376E-5" "02327" "DNAAF3_000055" "g.55667605C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156237C>A" "" "likely benign" "" "0000617882" "0" "50" "19" "55667634" "55667634" "subst" "8.46998E-6" "02330" "DNAAF3_000056" "g.55667634C>G" "" "" "" "TNNI3(NM_000363.4):c.217G>C (p.G73R), TNNI3(NM_000363.5):c.217G>C (p.G73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156266C>G" "" "VUS" "" "0000617884" "0" "30" "19" "55668039" "55668039" "subst" "0" "02327" "DNAAF3_000058" "g.55668039G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156671G>A" "" "likely benign" "" "0000617885" "0" "30" "19" "55668404" "55668405" "ins" "0" "02327" "DNAAF3_000059" "g.55668404_55668405insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157036_55157037insC" "" "likely benign" "" "0000617886" "0" "10" "19" "55668719" "55668722" "dup" "0" "02327" "TNNI3_000094" "g.55668719_55668722dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157351_55157354dup" "" "benign" "" "0000617887" "0" "30" "19" "55669073" "55669073" "subst" "0.000106593" "02327" "DNAAF3_000060" "g.55669073G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157705G>A" "" "likely benign" "" "0000617888" "0" "30" "19" "55670642" "55670642" "subst" "0.000365806" "02327" "DNAAF3_000061" "g.55670642C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159274C>T" "" "likely benign" "" "0000624089" "0" "30" "19" "55663250" "55663250" "subst" "6.09196E-5" "02326" "TNNI3_000156" "g.55663250G>A" "" "" "" "TNNI3(NM_000363.4):c.585C>T (p.I195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151882G>A" "" "likely benign" "" "0000624090" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "02326" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156661G>T" "" "benign" "" "0000650055" "1" "90" "19" "55665399" "55665399" "subst" "0" "03575" "TNNI3_000158" "g.55665399T>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730881078}" "Germline" "" "rs730881078" "0" "" "" "g.55154031T>G" "" "pathogenic" "" "0000650056" "1" "90" "19" "55665438" "55665438" "subst" "0" "03575" "TNNI3_000056" "g.55665438C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727503503}" "Germline" "" "rs727503503" "0" "" "" "g.55154070C>T" "" "pathogenic" "" "0000650057" "1" "70" "19" "55665463" "55665463" "subst" "4.07067E-5" "03575" "TNNI3_000013" "g.55665463G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs368861241}" "Germline" "" "rs368861241" "0" "" "" "g.55154095G>A" "" "likely pathogenic" "" "0000658664" "0" "50" "19" "55663203" "55663203" "subst" "0" "02326" "TNNI3_000159" "g.55663203C>T" "" "" "" "TNNI3(NM_000363.4):c.632G>A (p.*211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55151835C>T" "" "VUS" "" "0000658665" "0" "90" "19" "55665438" "55665438" "subst" "0" "02326" "TNNI3_000056" "g.55665438C>T" "" "" "" "TNNI3(NM_000363.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154070C>T" "" "pathogenic" "" "0000658666" "0" "90" "19" "55665439" "55665439" "subst" "0" "01943" "DNAAF3_000062" "g.55665439G>A" "" "" "" "TNNI3(NM_000363.4):c.508C>T (p.R170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154071G>A" "" "pathogenic" "" "0000658667" "0" "70" "19" "55665525" "55665525" "subst" "0" "02326" "TNNI3_000029" "g.55665525C>T" "" "" "" "TNNI3(NM_000363.4):c.422G>A (p.R141Q), TNNI3(NM_000363.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000658668" "0" "70" "19" "55668957" "55668957" "subst" "0" "01943" "DNAAF3_000063" "g.55668957T>C" "" "" "" "TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157589T>C" "" "likely pathogenic" "" "0000681510" "0" "50" "19" "55663236" "55663236" "subst" "0" "01943" "TNNI3_000160" "g.55663236C>T" "" "" "" "TNNI3(NM_000363.4):c.599G>A (p.G200E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681511" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "02330" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681512" "0" "10" "19" "55668505" "55668505" "subst" "0.000171338" "02330" "TNNI3_000089" "g.55668505G>A" "" "" "" "TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681513" "0" "30" "19" "55672151" "55672151" "subst" "0.00110814" "01804" "DNAAF3_000064" "g.55672151T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1117-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692887" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "01943" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692888" "0" "30" "19" "55667706" "55667706" "subst" "6.69762E-5" "01943" "DNAAF3_000065" "g.55667706G>C" "" "" "" "TNNI3(NM_000363.4):c.151-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692889" "0" "50" "19" "55667978" "55667978" "subst" "2.92716E-5" "01943" "DNAAF3_000066" "g.55667978T>G" "" "" "" "TNNI3(NM_000363.4):c.143A>C (p.Q48P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692890" "0" "30" "19" "55670667" "55670667" "subst" "9.34344E-5" "01943" "DNAAF3_000067" "g.55670667G>T" "" "" "" "DNAAF3(NM_001256716.1):c.1227C>A (p.G409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692891" "0" "50" "19" "55672117" "55672117" "subst" "2.05672E-5" "02325" "DNAAF3_000068" "g.55672117G>T" "" "" "" "DNAAF3(NM_001256714.1):c.1143C>A (p.N381K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000700524" "0" "50" "19" "55667620" "55667620" "subst" "0" "00006" "TNNI3_000184" "g.55667620G>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55156252G>T" "" "VUS" "" "0000700525" "0" "50" "19" "55666196" "55666196" "subst" "0" "00006" "TNNI3_000183" "g.55666196G>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154828G>T" "" "VUS" "" "0000700526" "0" "50" "19" "55666189" "55666189" "subst" "6.50063E-5" "00006" "TNNI3_000111" "g.55666189G>A" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154821G>A" "" "VUS" "" "0000700527" "0" "90" "19" "55666143" "55666143" "del" "0" "00006" "TNNI3_000182" "g.55666143del" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154775del" "" "pathogenic" "" "0000700528" "0" "50" "19" "55665568" "55665568" "subst" "0" "00006" "TNNI3_000180" "g.55665568C>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154200C>G" "" "VUS" "" "0000700529" "0" "50" "19" "55665564" "55665564" "subst" "0" "00006" "TNNI3_000179" "g.55665564A>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154196A>T" "" "VUS" "" "0000700530" "0" "70" "19" "55665558" "55665558" "subst" "0" "00006" "TNNI3_000053" "g.55665558T>C" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154190T>C" "" "likely pathogenic" "" "0000700531" "0" "50" "19" "55665557" "55665557" "subst" "0" "00006" "TNNI3_000178" "g.55665557C>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154189C>G" "" "VUS" "" "0000700532" "0" "70" "19" "55665540" "55665540" "subst" "4.07671E-6" "00006" "TNNI3_000063" "g.55665540C>T" "3/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154172C>T" "" "likely pathogenic" "" "0000700533" "0" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "6/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000700534" "0" "70" "19" "55665516" "55665516" "subst" "0" "00006" "TNNI3_000177" "g.55665516A>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154148A>G" "" "likely pathogenic" "" "0000700535" "0" "90" "19" "55665514" "55665514" "subst" "0" "00006" "TNNI3_000011" "g.55665514G>C" "2/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154146G>C" "" "pathogenic" "" "0000700536" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "10/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000700537" "0" "50" "19" "55665508" "55665508" "subst" "2.44202E-5" "00006" "TNNI3_000093" "g.55665508C>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154140C>G" "" "VUS" "" "0000700538" "0" "70" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "3/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154109G>A" "" "likely pathogenic" "" "0000700539" "0" "50" "19" "55665463" "55665463" "subst" "4.07067E-5" "00006" "TNNI3_000013" "g.55665463G>A" "7/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154095G>A" "" "VUS" "" "0000700540" "0" "50" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "4/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154094C>T" "" "VUS" "" "0000700541" "0" "50" "19" "55665459" "55665459" "subst" "0" "00006" "TNNI3_000175" "g.55665459G>C" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154091G>C" "" "VUS" "" "0000700542" "0" "50" "19" "55665457" "55665457" "subst" "0" "00006" "TNNI3_000174" "g.55665457T>C" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154089T>C" "" "VUS" "" "0000700543" "0" "50" "19" "55665441" "55665441" "del" "0" "00006" "TNNI3_000173" "g.55665441del" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154073del" "" "VUS" "" "0000700544" "0" "70" "19" "55665436" "55665436" "subst" "0" "00006" "TNNI3_000027" "g.55665436C>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154068C>T" "" "likely pathogenic" "" "0000700545" "0" "50" "19" "55665435" "55665435" "subst" "0" "00006" "TNNI3_000172" "g.55665435G>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154067G>T" "" "VUS" "" "0000700546" "0" "90" "19" "55665415" "55665415" "subst" "0" "00006" "TNNI3_000025" "g.55665415T>C" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154047T>C" "" "pathogenic" "" "0000700547" "0" "90" "19" "55665410" "55665410" "del" "0" "00006" "TNNI3_000171" "g.55665410del" "2/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154042del" "" "pathogenic" "" "0000700548" "0" "70" "19" "55665398" "55665398" "subst" "0" "00006" "TNNI3_000072" "g.55665398C>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154030C>G" "" "likely pathogenic" "" "0000700549" "0" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "2/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000700550" "0" "50" "19" "55663262" "55663262" "subst" "0" "00006" "TNNI3_000167" "g.55663262C>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151894C>T" "" "VUS" "" "0000700551" "0" "50" "19" "55663254" "55663254" "subst" "4.06128E-6" "00006" "TNNI3_000164" "g.55663254T>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151886T>G" "" "VUS" "" "0000700552" "0" "70" "19" "55663249" "55663249" "subst" "8.12282E-6" "00006" "TNNI3_000022" "g.55663249C>T" "4/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151881C>T" "" "likely pathogenic" "" "0000700553" "0" "50" "19" "55663245" "55663245" "subst" "0" "00006" "TNNI3_000163" "g.55663245G>C" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151877G>C" "" "VUS" "" "0000700554" "0" "50" "19" "55663242" "55663242" "subst" "0" "00006" "TNNI3_000162" "g.55663242A>C" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151874A>C" "" "VUS" "" "0000700555" "0" "70" "19" "55663239" "55663239" "subst" "0" "00006" "TNNI3_000041" "g.55663239C>T" "2/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151871C>T" "" "likely pathogenic" "" "0000700556" "0" "70" "19" "55663233" "55663233" "subst" "0" "00006" "TNNI3_000071" "g.55663233A>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151865A>G" "" "likely pathogenic" "" "0000700557" "0" "50" "19" "55663230" "55663230" "subst" "0" "00006" "TNNI3_000161" "g.55663230T>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151862T>G" "" "VUS" "" "0000700558" "0" "70" "19" "55663228" "55663228" "subst" "0" "00006" "TNNI3_000044" "g.55663228C>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151860C>G" "" "likely pathogenic" "" "0000700559" "0" "70" "19" "55663224" "55663224" "subst" "0" "00006" "TNNI3_000046" "g.55663224C>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151856C>T" "" "likely pathogenic" "" "0000700560" "0" "50" "19" "55663210" "55663210" "subst" "0" "00006" "TNNI3_000155" "g.55663210C>T" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151842C>T" "" "VUS" "" "0000700561" "0" "70" "19" "55663209" "55663209" "subst" "0" "00006" "TNNI3_000070" "g.55663209T>G" "1/3135 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151841T>G" "" "likely pathogenic" "" "0000700688" "0" "70" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "1/483 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154109G>A" "" "likely pathogenic" "" "0000700689" "0" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "1/483 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000701400" "0" "50" "19" "55667684" "55667684" "subst" "2.60396E-5" "00006" "TNNI3_000073" "g.55667684A>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55156316A>G" "" "VUS" "" "0000701401" "0" "50" "19" "55667615" "55667615" "subst" "3.7859E-5" "00006" "DNAAF3_000027" "g.55667615C>A" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55156247C>A" "" "VUS" "" "0000701402" "0" "50" "19" "55666113" "55666113" "subst" "8.1275E-6" "00006" "TNNI3_000138" "g.55666113G>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154745G>A" "" "VUS" "" "0000701403" "0" "70" "19" "55665525" "55665525" "subst" "0" "00006" "TNNI3_000029" "g.55665525C>T" "5/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000701404" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "00006" "DNAAF3_000022" "g.55665519G>T" "3/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154151G>T" "" "VUS" "" "0000701405" "0" "90" "19" "55665516" "55665516" "subst" "0" "00006" "TNNI3_000177" "g.55665516A>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154148A>G" "" "pathogenic" "" "0000701406" "0" "90" "19" "55665514" "55665514" "subst" "0" "00006" "TNNI3_000011" "g.55665514G>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154146G>C" "" "pathogenic" "" "0000701407" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "00006" "TNNI3_000026" "g.55665514G>A" "3/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000701408" "0" "70" "19" "55665513" "55665513" "subst" "1.62829E-5" "00006" "TNNI3_000012" "g.55665513C>T" "4/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154145C>T" "" "likely pathogenic" "" "0000701409" "0" "90" "19" "55665477" "55665477" "subst" "0" "00006" "TNNI3_000030" "g.55665477G>A" "8/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000701410" "0" "50" "19" "55665463" "55665463" "subst" "4.07067E-5" "00006" "TNNI3_000013" "g.55665463G>A" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154095G>A" "" "VUS" "" "0000701411" "0" "70" "19" "55665462" "55665462" "subst" "0" "00006" "TNNI3_000047" "g.55665462C>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154094C>G" "" "likely pathogenic" "" "0000701412" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "00006" "TNNI3_000034" "g.55665462C>T" "8/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154094C>T" "" "likely pathogenic" "" "0000701413" "0" "50" "19" "55665450" "55665450" "subst" "8.13935E-6" "00006" "TNNI3_000035" "g.55665450G>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55154082G>A" "" "VUS" "" "0000701414" "0" "90" "19" "55665438" "55665438" "subst" "0" "00006" "TNNI3_000056" "g.55665438C>T" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154070C>T" "" "pathogenic" "" "0000701415" "0" "50" "19" "55665421" "55665421" "subst" "0" "00006" "TNNI3_000106" "g.55665421C>T" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55154053C>T" "" "VUS" "" "0000701416" "0" "90" "19" "55665417" "55665419" "del" "0" "00006" "TNNI3_000031" "g.55665417_55665419del" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "532_534delAAG" "" "Germline" "" "" "0" "" "" "g.55154049_55154051del" "" "pathogenic" "" "0000701417" "0" "90" "19" "55663278" "55663278" "subst" "0" "00006" "TNNI3_000032" "g.55663278C>T" "3/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151910C>T" "" "pathogenic" "" "0000701418" "0" "70" "19" "55663267" "55663267" "subst" "0" "00006" "TNNI3_000168" "g.55663267C>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151899C>A" "" "likely pathogenic" "" "0000701419" "0" "70" "19" "55663260" "55663260" "subst" "0" "00006" "TNNI3_000024" "g.55663260C>T" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151892C>T" "" "likely pathogenic" "" "0000701420" "0" "70" "19" "55663260" "55663260" "subst" "0" "00006" "TNNI3_000166" "g.55663260C>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151892C>A" "" "likely pathogenic" "" "0000701421" "0" "50" "19" "55663256" "55663256" "subst" "0" "00006" "TNNI3_000165" "g.55663256C>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55151888C>G" "" "VUS" "" "0000701422" "0" "50" "19" "55663249" "55663249" "subst" "8.12282E-6" "00006" "TNNI3_000022" "g.55663249C>T" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55151881C>T" "" "VUS" "" "0000701423" "0" "50" "19" "55663243" "55663243" "subst" "0" "00006" "TNNI3_000107" "g.55663243G>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55151875G>C" "" "VUS" "" "0000701424" "0" "70" "19" "55663233" "55663233" "subst" "0" "00006" "TNNI3_000071" "g.55663233A>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151865A>G" "" "likely pathogenic" "" "0000701425" "0" "50" "19" "55663225" "55663225" "subst" "0" "00006" "TNNI3_000079" "g.55663225G>A" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55151857G>A" "" "VUS" "" "0000701426" "0" "70" "19" "55663224" "55663224" "subst" "0" "00006" "TNNI3_000046" "g.55663224C>T" "3/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151856C>T" "" "likely pathogenic" "" "0000701427" "0" "50" "19" "55663210" "55663210" "subst" "0" "00006" "TNNI3_000155" "g.55663210C>T" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55151842C>T" "" "VUS" "" "0000701690" "0" "50" "19" "55668461" "55668461" "subst" "0" "00006" "TNNI3_000185" "g.55668461C>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55157093C>T" "" "VUS" "" "0000701691" "0" "50" "19" "55666125" "55666125" "subst" "2.84382E-5" "00006" "TNNI3_000181" "g.55666125G>T" "2/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55154757G>T" "" "VUS" "" "0000701692" "0" "50" "19" "55665459" "55665459" "subst" "0" "00006" "TNNI3_000176" "g.55665459G>A" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.55154091G>A" "" "VUS" "" "0000701693" "0" "70" "19" "55665403" "55665403" "subst" "0" "00006" "TNNI3_000170" "g.55665403C>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55154035C>T" "" "likely pathogenic" "" "0000701694" "0" "70" "19" "55663285" "55663285" "subst" "0" "00006" "TNNI3_000169" "g.55663285C>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.55151917C>T" "" "likely pathogenic" "" "0000727529" "0" "90" "19" "55665477" "55665477" "subst" "0" "02330" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727530" "0" "50" "19" "55667972" "55667972" "subst" "0" "02330" "DNAAF3_000069" "g.55667972T>C" "" "" "" "TNNI3(NM_000363.5):c.149A>G (p.K50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809053" "0" "50" "19" "55665398" "55665398" "subst" "0" "02325" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809054" "0" "50" "19" "55667990" "55667990" "subst" "0" "02330" "DNAAF3_000070" "g.55667990G>C" "" "" "" "TNNI3(NM_000363.5):c.131C>G (p.S44W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809055" "0" "50" "19" "55668501" "55668501" "subst" "0" "02330" "DNAAF3_000071" "g.55668501C>A" "" "" "" "TNNI3(NM_000363.5):c.25G>T (p.A9S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809056" "0" "30" "19" "55670772" "55670772" "subst" "3.65681E-5" "01943" "DNAAF3_000072" "g.55670772G>A" "" "" "" "DNAAF3(NM_001256716.1):c.1122C>T (p.T374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855696" "0" "90" "19" "55663209" "55663209" "subst" "0" "02326" "TNNI3_000070" "g.55663209T>G" "" "" "" "TNNI3(NM_000363.4):c.626A>C (p.E209A), TNNI3(NM_000363.5):c.626A>C (p.E209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855697" "0" "30" "19" "55663221" "55663221" "subst" "0" "02327" "TNNI3_000186" "g.55663221T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855698" "0" "70" "19" "55665408" "55665408" "subst" "0" "02327" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855699" "0" "10" "19" "55665463" "55665463" "subst" "0" "02330" "DNAAF3_000074" "g.55665463G>T" "" "" "" "TNNI3(NM_000363.5):c.484C>A (p.R162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855701" "0" "30" "19" "55666089" "55666089" "subst" "4.48474E-5" "02327" "DNAAF3_000075" "g.55666089G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855702" "0" "30" "19" "55668020" "55668020" "subst" "0" "02327" "DNAAF3_000076" "g.55668020G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855703" "0" "50" "19" "55668410" "55668410" "subst" "3.05948E-5" "02327" "DNAAF3_000077" "g.55668410C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855704" "0" "70" "19" "55668957" "55668957" "subst" "0" "02330" "DNAAF3_000063" "g.55668957T>C" "" "" "" "TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866271" "0" "30" "19" "55665452" "55665452" "subst" "0" "01943" "DNAAF3_000073" "g.55665452C>A" "" "" "" "TNNI3(NM_000363.4):c.495G>T (p.E165D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878867" "0" "70" "19" "55663247" "55663247" "subst" "0" "04384" "TNNI3_000187" "g.55663247A>T" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895129" "0" "50" "19" "55663253" "55663253" "subst" "0" "02327" "TNNI3_000188" "g.55663253G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895130" "0" "50" "19" "55665394" "55665397" "del" "0" "02330" "DNAAF3_000078" "g.55665394_55665397del" "" "" "" "TNNI3(NM_000363.5):c.549+4_549+7delAGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895131" "0" "50" "19" "55665456" "55665456" "subst" "0" "02330" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895132" "0" "90" "19" "55665462" "55665462" "subst" "0" "02325" "TNNI3_000047" "g.55665462C>G" "" "" "" "TNNI3(NM_000363.5):c.485G>C (p.R162P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895133" "0" "90" "19" "55665477" "55665477" "subst" "0" "02326" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895134" "0" "90" "19" "55666189" "55666189" "subst" "6.50063E-5" "02330" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895135" "0" "30" "19" "55667578" "55667578" "subst" "0.000355387" "02326" "TNNI3_000141" "g.55667578C>T" "" "" "" "TNNI3(NM_000363.4):c.273G>A (p.A91=), TNNI3(NM_000363.5):c.273G>A (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895136" "0" "50" "19" "55667616" "55667616" "subst" "0.00044576" "02330" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895137" "0" "50" "19" "55667626" "55667626" "subst" "0" "02327" "DNAAF3_000079" "g.55667626A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895138" "0" "50" "19" "55667655" "55667655" "subst" "0" "02325" "DNAAF3_000080" "g.55667655C>T" "" "" "" "TNNI3(NM_000363.5):c.196G>A (p.E66K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895139" "0" "50" "19" "55668443" "55668443" "subst" "0" "02327" "DNAAF3_000081" "g.55668443G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895140" "0" "30" "19" "55668684" "55668684" "del" "0" "02326" "TNNI3_000092" "g.55668684del" "" "" "" "TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895141" "0" "50" "19" "55670762" "55670762" "subst" "8.12407E-6" "02325" "DNAAF3_000082" "g.55670762C>G" "" "" "" "DNAAF3(NM_001256714.1):c.1495G>C (p.E499Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915290" "0" "50" "19" "55666173" "55666173" "subst" "4.06217E-6" "02325" "DNAAF3_000083" "g.55666173C>A" "" "" "" "TNNI3(NM_000363.5):c.308G>T (p.R103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915291" "0" "50" "19" "55668489" "55668489" "subst" "0" "02330" "DNAAF3_000084" "g.55668489G>T" "" "" "" "TNNI3(NM_000363.5):c.37C>A (p.R13S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918408" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "03779" "TNNI3_000034" "g.55665462C>T" "" "" "" "" "" "Unknown" "" "rs397516354" "0" "" "" "" "" "likely pathogenic" "" "0000926942" "0" "70" "19" "55665408" "55665408" "subst" "0" "02330" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926943" "0" "50" "19" "55665456" "55665456" "subst" "0" "02326" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926944" "0" "50" "19" "55667676" "55667676" "subst" "0" "02325" "DNAAF3_000085" "g.55667676G>C" "" "" "" "TNNI3(NM_000363.5):c.175C>G (p.Q59E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926945" "0" "50" "19" "55668437" "55668437" "subst" "0" "02326" "DNAAF3_000086" "g.55668437G>T" "" "" "" "TNNI3(NM_000363.4):c.89C>A (p.A30D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931104" "0" "10" "19" "55663229" "55663229" "subst" "8.12203E-6" "02330" "TNNI3_000115" "g.55663229C>T" "" "" "" "TNNI3(NM_000363.4):c.606G>A (p.E202=), TNNI3(NM_000363.5):c.606G>A (p.E202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931105" "0" "90" "19" "55663278" "55663278" "subst" "0" "02330" "TNNI3_000032" "g.55663278C>T" "" "" "" "TNNI3(NM_000363.5):c.557G>A (p.R186Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931106" "0" "70" "19" "55665398" "55665398" "subst" "0" "02330" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931107" "0" "90" "19" "55665417" "55665419" "del" "0" "02329" "TNNI3_000031" "g.55665417_55665419del" "" "" "" "TNNI3(NM_000363.5):c.532_534delAAG (p.K178del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951360" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02326" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951361" "0" "90" "19" "55665525" "55665525" "subst" "0" "02330" "TNNI3_000029" "g.55665525C>T" "" "" "" "TNNI3(NM_000363.4):c.422G>A (p.R141Q), TNNI3(NM_000363.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951362" "0" "10" "19" "55665590" "55665590" "subst" "4.54835E-5" "02330" "DNAAF3_000087" "g.55665590G>A" "" "" "" "TNNI3(NM_000363.5):c.373-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957774" "0" "70" "19" "55666174" "55666174" "subst" "4.0623E-6" "00006" "TNNI3_000189" "g.55666174G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55154806G>A" "" "likely pathogenic" "" "0000969994" "0" "30" "19" "55665589" "55665589" "subst" "0.000289306" "02326" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969995" "0" "10" "19" "55666151" "55666151" "subst" "0" "02330" "TNNI3_000139" "g.55666151C>T" "" "" "" "TNNI3(NM_000363.5):c.330G>A (p.E110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969996" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "02325" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969997" "0" "50" "19" "55667634" "55667634" "subst" "8.46998E-6" "02326" "DNAAF3_000056" "g.55667634C>G" "" "" "" "TNNI3(NM_000363.4):c.217G>C (p.G73R), TNNI3(NM_000363.5):c.217G>C (p.G73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969998" "0" "50" "19" "55667684" "55667684" "subst" "2.60396E-5" "02325" "TNNI3_000073" "g.55667684A>G" "" "" "" "TNNI3(NM_000363.5):c.167T>C (p.I56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969999" "0" "10" "19" "55667956" "55667956" "subst" "0" "02330" "DNAAF3_000088" "g.55667956C>T" "" "" "" "TNNI3(NM_000363.5):c.150+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000971556" "0" "90" "19" "55663278" "55663278" "subst" "0" "03779" "TNNI3_000032" "g.55663278C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs397516357" "0" "" "" "" "" "pathogenic" "" "0000983655" "0" "50" "19" "55663194" "55663194" "del" "4.06118E-6" "02325" "TNNI3_000190" "g.55663194del" "" "" "" "TNNI3(NM_000363.5):c.*8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983656" "0" "90" "19" "55663261" "55663261" "subst" "0" "02330" "TNNI3_000067" "g.55663261G>A" "" "" "" "TNNI3(NM_000363.5):c.574C>T (p.R192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983657" "0" "90" "19" "55665438" "55665438" "subst" "0" "02327" "TNNI3_000056" "g.55665438C>T" "" "" "" "TNNI3(NM_000363.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983658" "0" "10" "19" "55667587" "55667587" "subst" "0" "02330" "DNAAF3_000089" "g.55667587C>T" "" "" "" "TNNI3(NM_000363.5):c.264G>A (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983659" "0" "30" "19" "55671257" "55671257" "subst" "0.00228548" "01804" "DNAAF3_000006" "g.55671257C>A" "" "" "" "DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983660" "0" "30" "19" "55672059" "55672059" "subst" "8.18532E-6" "01804" "DNAAF3_000090" "g.55672059C>T" "" "" "" "DNAAF3(NM_001256715.2):c.997G>A (p.(Asp333Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983661" "0" "50" "19" "55672096" "55672096" "subst" "1.64041E-5" "01804" "DNAAF3_000091" "g.55672096G>C" "" "" "" "DNAAF3(NM_001256715.2):c.960C>G (p.(Asp320Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983662" "0" "50" "19" "55672455" "55672455" "subst" "0.000150626" "01804" "DNAAF3_000092" "g.55672455G>A" "" "" "" "DNAAF3(NM_001256715.2):c.890C>T (p.(Thr297Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983663" "0" "50" "19" "55672494" "55672494" "subst" "6.90112E-6" "02327" "DNAAF3_000093" "g.55672494G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983664" "0" "30" "19" "55672513" "55672513" "subst" "0.0016903" "01804" "DNAAF3_000011" "g.55672513C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983665" "0" "50" "19" "55673132" "55673133" "dup" "0" "01804" "DNAAF3_000094" "g.55673132_55673133dup" "" "" "" "DNAAF3(NM_001256715.2):c.543_544dup (p.(Gln182Profs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983666" "0" "30" "19" "55673654" "55673654" "subst" "0.0350278" "01804" "DNAAF3_000016" "g.55673654T>C" "" "" "" "DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989659" "0" "50" "19" "55668007" "55668007" "subst" "0" "02515" "TNNI3_000191" "g.55668007T>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs730881066" "0" "" "" "g.55156639T>A" "" "VUS" "" "0001005135" "0" "30" "19" "55667552" "55667552" "subst" "1.67595E-5" "02330" "DNAAF3_000096" "g.55667552T>A" "" "" "" "TNNI3(NM_000363.5):c.282+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005136" "0" "30" "19" "55667553" "55667553" "subst" "1.67583E-5" "02330" "DNAAF3_000097" "g.55667553C>A" "" "" "" "TNNI3(NM_000363.5):c.282+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005137" "0" "50" "19" "55668002" "55668002" "subst" "0" "02330" "DNAAF3_000098" "g.55668002T>A" "" "" "" "TNNI3(NM_000363.5):c.119A>T (p.K40M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005138" "0" "30" "19" "55670467" "55670467" "subst" "0.000992856" "01804" "DNAAF3_000099" "g.55670467G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1790C>T (p.(Pro597Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007606" "0" "70" "19" "55665468" "55665468" "subst" "0" "03779" "TNNI3_000192" "g.55665468C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs2085711894" "0" "" "" "" "" "likely pathogenic" "" "0001018821" "0" "50" "19" "55667973" "55667973" "subst" "0" "03779" "TNNI3_000194" "g.55667973T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001020076" "0" "50" "19" "55663232" "55663232" "subst" "4.06105E-6" "03779" "TNNI3_000195" "g.55663232C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs774968223" "0" "" "" "" "" "VUS" "" "0001027268" "0" "70" "19" "55663280" "55663280" "subst" "0" "02326" "TNNI3_000059" "g.55663280G>C" "" "" "" "TNNI3(NM_000363.4):c.555C>G (p.N185K), TNNI3(NM_000363.5):c.555C>G (p.N185K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027269" "0" "90" "19" "55667648" "55667648" "del" "0" "02330" "DNAAF3_000100" "g.55667648del" "" "" "" "TNNI3(NM_000363.5):c.204delG (p.R69Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027270" "0" "50" "19" "55667667" "55667667" "subst" "0" "02326" "DNAAF3_000101" "g.55667667C>T" "" "" "" "TNNI3(NM_000363.4):c.184G>A (p.E62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027271" "0" "50" "19" "55672492" "55672492" "subst" "0" "02329" "DNAAF3_000103" "g.55672492A>C" "" "" "" "DNAAF3(NM_001256714.1):c.1057T>G (p.F353V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027272" "0" "30" "19" "55672513" "55672513" "subst" "0.0016903" "02325" "DNAAF3_000011" "g.55672513C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030077" "0" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "03779" "TNNI3_000013" "g.55665463G>A" "" "" "" "" "" "Unknown" "" "rs368861241" "0" "" "" "" "" "pathogenic" "" "0001043179" "0" "70" "19" "55663280" "55663280" "subst" "0" "02325" "TNNI3_000059" "g.55663280G>C" "" "" "" "TNNI3(NM_000363.4):c.555C>G (p.N185K), TNNI3(NM_000363.5):c.555C>G (p.N185K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043180" "0" "70" "19" "55665540" "55665540" "subst" "4.07671E-6" "02327" "TNNI3_000063" "g.55665540C>T" "" "" "" "TNNI3(NM_000363.5):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043181" "0" "30" "19" "55667647" "55667647" "subst" "0.0407822" "01804" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047989" "0" "70" "19" "55666189" "55666189" "subst" "6.50063E-5" "03779" "TNNI3_000111" "g.55666189G>A" "" "" "" "" "" "Unknown" "" "rs730881068" "0" "" "" "" "" "likely pathogenic" "" "0001056804" "0" "50" "19" "55666134" "55666134" "subst" "1.62487E-5" "01804" "TNNI3_000076" "g.55666134G>C" "" "" "" "TNNI3(NM_000363.5):c.347C>G (p.(Ala116Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056805" "0" "50" "19" "55670438" "55670438" "subst" "0" "01804" "DNAAF3_000107" "g.55670438C>T" "" "" "" "DNAAF3(NM_001256715.2):c.1618G>A (p.(Gly540Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056806" "0" "50" "19" "55670800" "55670800" "subst" "0.000203303" "01804" "DNAAF3_000108" "g.55670800C>T" "" "" "" "DNAAF3(NM_001256715.2):c.1256G>A (p.(Arg419Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056807" "0" "90" "19" "55672065" "55672065" "dup" "0" "01804" "DNAAF3_000109" "g.55672065dup" "" "" "" "DNAAF3(NM_001256715.2):c.997dup (p.(Asp333Glyfs*64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001057556" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "03779" "TNNI3_000035" "g.55665450G>A" "" "" "" "" "" "Unknown" "" "rs727504242" "0" "" "" "" "" "pathogenic" "" "0001067273" "0" "90" "19" "55663261" "55663261" "subst" "0" "02325" "TNNI3_000067" "g.55663261G>A" "" "" "" "TNNI3(NM_000363.5):c.574C>T (p.R192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001067274" "0" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "02327" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001067275" "0" "70" "19" "55667970" "55667970" "subst" "0" "02325" "chr19_009007" "g.55667970C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TNNI3 ## Count = 549 "{{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}}" "0000036034" "00021595" "95" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "?" "0000095275" "00021595" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Met)" "" "0000095314" "00021595" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000095329" "00021595" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Met)" "" "0000095548" "00021595" "50" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Leu198Val)" "" "0000095567" "00021595" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000095747" "00021595" "50" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000175259" "00021595" "90" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Arg74Gly)" "5" "0000175260" "00021595" "90" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Val147Leu)" "7" "0000175261" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000175262" "00021595" "90" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Asn194Ser)" "8" "0000218437" "00021595" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000218458" "00021595" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000247551" "00021595" "10" "25" "-8" "25" "-8" "c.25-8T>A" "r.(=)" "p.(=)" "" "0000247556" "00021595" "10" "373" "-10" "373" "-10" "c.373-10T>G" "r.(=)" "p.(=)" "" "0000247933" "00021595" "10" "25" "-8" "25" "-8" "c.25-8T>A" "r.(=)" "p.(=)" "" "0000247977" "00021595" "10" "-3827" "0" "-3827" "0" "c.-3827T>C" "r.(?)" "p.(=)" "" "0000248255" "00021595" "10" "373" "-10" "373" "-10" "c.373-10T>G" "r.(=)" "p.(=)" "" "0000249413" "00021595" "30" "139" "0" "139" "0" "c.139T>C" "r.(?)" "p.(Leu47=)" "" "0000251701" "00021595" "30" "373" "-10" "373" "-10" "c.373-10T>G" "r.(=)" "p.(=)" "" "0000253194" "00021595" "10" "25" "-8" "25" "-8" "c.25-8T>A" "r.(=)" "p.(=)" "" "0000253238" "00021595" "10" "-3827" "0" "-3827" "0" "c.-3827T>C" "r.(?)" "p.(=)" "" "0000253940" "00021595" "10" "11" "128" "11" "128" "c.11+128T>C" "r.(=)" "p.(=)" "" "0000267435" "00021595" "10" "-2134" "0" "-2134" "0" "c.-2134del" "r.(?)" "p.(=)" "" "0000267436" "00021595" "10" "-1868" "0" "-1868" "0" "c.-1868A>G" "r.(?)" "p.(=)" "" "0000267437" "00021595" "10" "-3612" "0" "-3612" "0" "c.-3612C>T" "r.(?)" "p.(=)" "" "0000267438" "00021595" "10" "-3513" "0" "-3513" "0" "c.-3513A>G" "r.(?)" "p.(=)" "" "0000267439" "00021595" "10" "-2417" "0" "-2417" "0" "c.-2417G>A" "r.(?)" "p.(=)" "" "0000267440" "00021595" "10" "-2380" "0" "-2380" "0" "c.-2380G>A" "r.(?)" "p.(=)" "" "0000275152" "00021595" "30" "-3557" "0" "-3557" "0" "c.-3557C>T" "r.(?)" "p.(=)" "" "0000275153" "00021595" "30" "-3556" "0" "-3556" "0" "c.-3556G>A" "r.(?)" "p.(=)" "" "0000275154" "00021595" "10" "-1868" "0" "-1868" "0" "c.-1868A>G" "r.(?)" "p.(=)" "" "0000275155" "00021595" "30" "-3172" "0" "-3172" "0" "c.-3172C>T" "r.(?)" "p.(=)" "" "0000275157" "00021595" "50" "-2300" "0" "-2300" "0" "c.-2300G>T" "r.(?)" "p.(=)" "" "0000275158" "00021595" "10" "-2032" "0" "-2032" "0" "c.-2032C>T" "r.(?)" "p.(=)" "" "0000275159" "00021595" "30" "-1556" "0" "-1556" "0" "c.-1556G>A" "r.(?)" "p.(=)" "" "0000275160" "00021595" "30" "-1694" "0" "-1694" "0" "c.-1694G>A" "r.(?)" "p.(=)" "" "0000275161" "00021595" "10" "-4697" "0" "-4697" "0" "c.-4697A>G" "r.(?)" "p.(=)" "" "0000275162" "00021595" "10" "-3612" "0" "-3612" "0" "c.-3612C>T" "r.(?)" "p.(=)" "" "0000275163" "00021595" "10" "-3513" "0" "-3513" "0" "c.-3513A>G" "r.(?)" "p.(=)" "" "0000275164" "00021595" "10" "-4207" "0" "-4207" "0" "c.-4207A>G" "r.(?)" "p.(=)" "" "0000275165" "00021595" "10" "-2417" "0" "-2417" "0" "c.-2417G>A" "r.(?)" "p.(=)" "" "0000275166" "00021595" "10" "-2380" "0" "-2380" "0" "c.-2380G>A" "r.(?)" "p.(=)" "" "0000309271" "00021595" "10" "109" "-17" "109" "-17" "c.109-17C>A" "r.(=)" "p.(=)" "" "0000309273" "00021595" "10" "12" "-7" "12" "-7" "c.12-7del" "r.(=)" "p.(=)" "" "0000309275" "00021595" "10" "150" "13" "150" "13" "c.150+13G>A" "r.(=)" "p.(=)" "" "0000309276" "00021595" "10" "151" "-18" "151" "-17" "c.151-18_151-17del" "r.(=)" "p.(=)" "" "0000309279" "00021595" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Glu66=)" "" "0000309281" "00021595" "10" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Arg68=)" "" "0000309282" "00021595" "10" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000309284" "00021595" "10" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Ala91=)" "" "0000309285" "00021595" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000309287" "00021595" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "0000309288" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000309289" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000309291" "00021595" "70" "531" "0" "531" "0" "c.531G>T" "r.(?)" "p.(Lys177Asn)" "" "0000309293" "00021595" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Glu179=)" "" "0000309294" "00021595" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Thr181=)" "" "0000309295" "00021595" "10" "550" "-10" "550" "-10" "c.550-10C>T" "r.(=)" "p.(=)" "" "0000309297" "00021595" "10" "600" "0" "600" "0" "c.600A>G" "r.(?)" "p.(Gly200=)" "" "0000309298" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "" "0000311929" "00021595" "30" "109" "-17" "109" "-17" "c.109-17C>A" "r.(=)" "p.(=)" "" "0000311930" "00021595" "10" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Arg68=)" "" "0000311931" "00021595" "30" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000311932" "00021595" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000311933" "00021595" "30" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Glu110=)" "" "0000311934" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000311935" "00021595" "90" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "" "0000311936" "00021595" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000311937" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000311938" "00021595" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Glu179=)" "" "0000311939" "00021595" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Trp191Ter)" "" "0000311940" "00021595" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Glu202=)" "" "0000311941" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "" "0000311943" "00021595" "10" "3298" "0" "3298" "0" "c.*2665A>G" "r.(=)" "p.(=)" "" "0000314724" "00021595" "10" "668" "0" "668" "0" "c.*35C>T" "r.(=)" "p.(=)" "" "0000314725" "00021595" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Glu66=)" "" "0000314726" "00021595" "10" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Arg68=)" "" "0000314727" "00021595" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0000314728" "00021595" "10" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000314729" "00021595" "30" "25" "-4" "25" "-4" "c.25-4C>T" "r.spl?" "p.?" "" "0000314730" "00021595" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000314731" "00021595" "30" "373" "-4" "373" "-4" "c.373-4C>T" "r.spl?" "p.?" "" "0000314732" "00021595" "70" "407" "0" "407" "0" "c.407G>C" "r.(?)" "p.(Arg136Pro)" "" "0000314733" "00021595" "70" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Glu165Lys)" "" "0000314734" "00021595" "90" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Lys183Asn)" "" "0000314735" "00021595" "50" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Ser23Cys)" "" "0000314736" "00021595" "70" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Ala30Thr)" "" "0000314738" "00021595" "10" "5448" "0" "5448" "0" "c.*4815A>G" "r.(=)" "p.(=)" "" "0000316838" "00021595" "10" "108" "21" "108" "21" "c.108+21G>A" "r.(=)" "p.(=)" "" "0000316839" "00021595" "10" "109" "-17" "109" "-17" "c.109-17C>A" "r.(=)" "p.(=)" "" "0000316841" "00021595" "10" "12" "-28" "12" "-27" "c.12-28_12-27delinsT" "r.(=)" "p.(=)" "" "0000316843" "00021595" "10" "12" "-7" "12" "-7" "c.12-7del" "r.(=)" "p.(=)" "" "0000316844" "00021595" "10" "150" "13" "150" "13" "c.150+13G>A" "r.(=)" "p.(=)" "" "0000316845" "00021595" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Glu66=)" "" "0000316846" "00021595" "10" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Arg68=)" "" "0000316847" "00021595" "50" "230" "0" "231" "0" "c.230_231delinsTT" "r.(?)" "p.(Ser77Ile)" "" "0000316848" "00021595" "10" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000316849" "00021595" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Ala91=)" "" "0000316850" "00021595" "10" "283" "-9" "283" "-9" "c.283-9C>T" "r.(=)" "p.(=)" "" "0000316851" "00021595" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000316852" "00021595" "10" "372" "26" "372" "26" "c.372+26C>T" "r.(=)" "p.(=)" "" "0000316853" "00021595" "30" "373" "-4" "373" "-4" "c.373-4C>T" "r.spl?" "p.?" "" "0000316854" "00021595" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Ala126Thr)" "" "0000316855" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000316856" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000316857" "00021595" "50" "491" "0" "491" "0" "c.491A>C" "r.(?)" "p.(Lys164Thr)" "" "0000316858" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000316859" "00021595" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Glu179=)" "" "0000316860" "00021595" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Thr181=)" "" "0000316861" "00021595" "10" "550" "-10" "550" "-10" "c.550-10C>T" "r.(=)" "p.(=)" "" "0000316862" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "" "0000326806" "00021595" "30" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "" "0000348060" "00021595" "70" "-1828" "0" "-1828" "0" "c.-1828dup" "r.(?)" "p.(=)" "" "0000355096" "00021595" "50" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.Arg145Gly" "7" "0000355097" "00021595" "50" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.Arg145Gly" "7" "0000355098" "00021595" "50" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.Arg145Gly" "7" "0000355099" "00021595" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.Arg162Trp" "7" "0000355100" "00021595" "50" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.Arg192His" "8" "0000355101" "00021595" "50" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.Lys178Glu" "7" "0000355102" "00021595" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.Arg145Trp" "7" "0000355103" "00021595" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.Ala171Thr" "7" "0000355104" "00021595" "50" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.Leu144Gln" "7" "0000355105" "00021595" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1" "0000355106" "00021595" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.Ala86Thr" "5" "0000355141" "00021595" "10" "108" "21" "108" "21" "c.108+21G>A" "r.(?)" "p.(=)" "3i" "0000355142" "00021595" "10" "109" "-17" "109" "-17" "c.109-17C>A" "r.(?)" "p.(=)" "4i" "0000355143" "00021595" "10" "109" "-37" "109" "-37" "c.109-37C>T" "r.(?)" "p.(=)" "4i" "0000355144" "00021595" "10" "150" "24" "150" "24" "c.150+24A>G" "r.(?)" "p.(=)" "4i" "0000355145" "00021595" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Lys58Asn)" "5" "0000355146" "00021595" "30" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Arg74Ser)" "5" "0000355147" "00021595" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "5" "0000355148" "00021595" "10" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355149" "00021595" "10" "282" "17" "282" "17" "c.282+17A>G" "r.(=)" "p.(=)" "5i" "0000355150" "00021595" "10" "373" "-4" "373" "-4" "c.373-4C>G" "r.spl?" "p.?" "6i" "0000355151" "00021595" "90" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.(Arg145Gly)" "7" "0000355152" "00021595" "90" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "7" "0000355153" "00021595" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "7" "0000355154" "00021595" "10" "48" "0" "48" "0" "c.48A>G" "r.(?)" "p.(=)" "3" "0000355155" "00021595" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(=)" "7" "0000355156" "00021595" "90" "547" "0" "549" "0" "c.547_549del" "r.(?)" "p.(Lys183del)" "7" "0000355157" "00021595" "10" "549" "19" "549" "19" "c.549+19del" "r.(?)" "p.(=)" "7i" "0000355158" "00021595" "10" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(=)" "8" "0000355159" "00021595" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Ser)" "8" "0000355160" "00021595" "90" "616" "0" "616" "0" "c.616A>C" "r.(?)" "p.(Lys206Gln)" "8" "0000355161" "00021595" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "5" "0000355162" "00021595" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "8" "0000355163" "00021595" "90" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Asp190Gly)" "8" "0000355164" "00021595" "90" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192His)" "8" "0000355165" "00021595" "90" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Lys178Glu)" "7" "0000355166" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355167" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355168" "00021595" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "7" "0000355169" "00021595" "90" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Leu144Gln)" "7" "0000355170" "00021595" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355171" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355172" "00021595" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "7" "0000355173" "00021595" "90" "532" "0" "534" "0" "c.532_534del" "r.(?)" "p.(Lys178del)" "7" "0000355174" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "8" "0000355175" "00021595" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "8" "0000355176" "00021595" "90" "607" "0" "639" "0" "c.607_639del" "r.(?)" "p.(Gly203Leufs*18)" "8" "0000355177" "00021595" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355178" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000355179" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000355180" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355181" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355182" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355183" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355184" "00021595" "10" "-35" "0" "-35" "0" "c.-35C>A" "r.(?)" "p.(=)" "1" "0000355185" "00021595" "10" "294" "0" "294" "0" "c.294A>G" "r.(?)" "p.(=)" "6" "0000355186" "00021595" "10" "-47" "0" "-47" "0" "c.-47C>T" "r.(=)" "p.(=)" "1" "0000355187" "00021595" "10" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355188" "00021595" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1" "0000355189" "00021595" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1" "0000355190" "00021595" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1" "0000355191" "00021595" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355192" "00021595" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355193" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355194" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355195" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355196" "00021595" "90" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "7" "0000355197" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355198" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355199" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355200" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000355201" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000355202" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000355203" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355204" "00021595" "90" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Lys183Glu)" "7" "0000355205" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "8" "0000355206" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "8" "0000355207" "00021595" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "8" "0000355208" "00021595" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "8" "0000355209" "00021595" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Ser199Asn)" "8" "0000355210" "00021595" "90" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Ser199Asn)" "8" "0000355211" "00021595" "90" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Ser199Gly)" "8" "0000355212" "00021595" "90" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(Glu202Gly)" "8" "0000355213" "00021595" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "8" "0000355214" "00021595" "10" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "5" "0000355215" "00021595" "10" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "5" "0000355216" "00021595" "90" "593" "0" "593" "0" "c.593T>C" "r.(?)" "p.(Leu198Pro)" "8" "0000355217" "00021595" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "8" "0000355218" "00021595" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "7" "0000355219" "00021595" "90" "485" "0" "485" "0" "c.485G>C" "r.(?)" "p.(Arg162Pro)" "7" "0000355220" "00021595" "10" "261" "0" "261" "0" "c.261G>T" "r.(?)" "p.(=)" "5" "0000355221" "00021595" "10" "244" "0" "244" "0" "c.244C>A" "r.(?)" "p.(Pro82Thr)" "5" "0000355222" "00021595" "10" "253" "0" "253" "0" "c.253T>A" "r.(?)" "p.(Leu85Met)" "5" "0000355223" "00021595" "10" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Ala86Asp)" "5" "0000355224" "00021595" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(=)" "7" "0000355225" "00021595" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21Cys)" "3" "0000355226" "00021595" "70" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Gln130Arg)" "7" "0000355227" "00021595" "90" "502" "0" "502" "0" "c.502del" "r.(?)" "p.(Asp168Thrfs*9)" "7" "0000355228" "00021595" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "5" "0000355229" "00021595" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" "5" "0000355230" "00021595" "90" "529" "0" "530" "0" "c.529_530del" "r.(?)" "p.(Lys177Glyfs*31)" "7" "0000355231" "00021595" "90" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Lys178Glu)" "7" "0000355232" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355233" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355234" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355235" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355236" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355237" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355238" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355239" "00021595" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "7" "0000355240" "00021595" "90" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.(Asp127Tyr)" "7" "0000355241" "00021595" "30" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355242" "00021595" "30" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355243" "00021595" "90" "106" "0" "106" "0" "c.106A>C" "r.(?)" "p.(Lys36Gln)" "3" "0000355244" "00021595" "90" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(Asn185Lys)" "8" "0000355245" "00021595" "70" "221" "0" "221" "0" "c.221G>C" "r.(?)" "p.(Arg74Pro)" "5" "0000355246" "00021595" "70" "221" "0" "221" "0" "c.221G>C" "r.(?)" "p.(Arg74Pro)" "5" "0000355247" "00021595" "90" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Ala91Thr)" "5" "0000355248" "00021595" "70" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "7" "0000355249" "00021595" "70" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "7" "0000355250" "00021595" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "8" "0000355251" "00021595" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "7" "0000355252" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355253" "00021595" "90" "449" "0" "449" "0" "c.449C>G" "r.(?)" "p.(Ser150Cys)" "7" "0000355254" "00021595" "90" "549" "0" "549" "0" "c.549G>T" "r.spl?" "p.(Lys183Asn)" "7" "0000355255" "00021595" "90" "549" "0" "549" "0" "c.549G>T" "r.spl?" "p.(Lys183Asn)" "7" "0000355256" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "8" "0000355257" "00021595" "90" "46" "0" "46" "0" "c.46C>A" "r.(?)" "p.(Pro16Thr)" "3" "0000355258" "00021595" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "5" "0000355259" "00021595" "50" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355260" "00021595" "50" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355261" "00021595" "50" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355262" "00021595" "70" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355263" "00021595" "70" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355264" "00021595" "70" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355265" "00021595" "50" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355266" "00021595" "50" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355267" "00021595" "50" "25" "-8" "25" "-8" "c.25-8T>A" "r.(?)" "p.(=)" "2i" "0000355268" "00021595" "50" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "7" "0000355269" "00021595" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "8" "0000355270" "00021595" "90" "549" "2" "549" "2" "c.549+2del" "r.spl" "p.?" "7i" "0000355271" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355272" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355273" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355274" "00021595" "90" "491" "0" "491" "0" "c.491A>C" "r.(?)" "p.(Lys164Thr)" "7" "0000355275" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355276" "00021595" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "7" "0000355277" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "8" "0000355278" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "8" "0000355279" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "8" "0000355280" "00021595" "90" "532" "0" "534" "0" "c.532_534del" "r.(?)" "p.(Lys178del)" "7" "0000355281" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355282" "00021595" "50" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "8" "0000355283" "00021595" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "7" "0000355284" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355285" "00021595" "90" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Met201Thr)" "8" "0000355286" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355287" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355288" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355289" "00021595" "50" "549" "0" "549" "0" "c.549G>C" "r.spl?" "p.(Lys183Asn)" "7" "0000355290" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355291" "00021595" "50" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "5" "0000355292" "00021595" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "7" "0000355293" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "7" "0000355294" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355295" "00021595" "90" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(Asn185Lys)" "8" "0000355296" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "8" "0000355297" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355298" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "7" "0000355299" "00021595" "90" "257" "0" "258" "0" "c.257_258del" "r.(?)" "p.(Ala86Glyfs*23)" "5" "0000355301" "00021595" "70" "347" "0" "347" "0" "c.347C>G" "r.(?)" "p.(Ala116Gly)" "6" "0000355302" "00021595" "50" "256" "0" "256" "0" "c.256G>A" "r.256g>a" "p.Ala86Thr" "5" "0000355303" "00021595" "90" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192His)" "8" "0000355304" "00021595" "90" "585" "0" "585" "0" "c.585C>G" "r.(?)" "p.(Ile195Met)" "8" "0000355305" "00021595" "70" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "8" "0000434678" "00021595" "70" "586" "0" "586" "0" "c.586G>C" "r.(?)" "p.(Asp196His)" "" "0000459050" "00021595" "90" "583" "0" "592" "0" "c.583_592del" "r.(?)" "p.(Ile195*)" "8" "0000470534" "00021595" "70" "106" "0" "106" "0" "c.106A>C" "r.(?)" "p.(Lys36Gln)" "" "0000471087" "00021595" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "7" "0000471088" "00021595" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "7" "0000568460" "00021595" "30" "5438" "0" "5438" "0" "c.*4805G>A" "r.(=)" "p.(=)" "" "0000568461" "00021595" "50" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "" "0000568462" "00021595" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Glu202=)" "" "0000568465" "00021595" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Gly189Glu)" "" "0000568466" "00021595" "30" "550" "-10" "550" "-10" "c.550-10C>T" "r.(=)" "p.(=)" "" "0000568467" "00021595" "50" "549" "69" "549" "74" "c.549+69_549+74del" "r.(=)" "p.(=)" "" "0000568468" "00021595" "30" "549" "69" "549" "70" "c.549+69_549+70insGCCTAG" "r.(=)" "p.(=)" "" "0000568469" "00021595" "30" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Thr181=)" "" "0000568470" "00021595" "70" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "" "0000568471" "00021595" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "" "0000568472" "00021595" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Glu179=)" "" "0000568474" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000568475" "00021595" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000568476" "00021595" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000568477" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000568478" "00021595" "50" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Thr143Asn)" "" "0000568479" "00021595" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "" "0000568480" "00021595" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Trp)" "" "0000568481" "00021595" "10" "373" "-4" "373" "-4" "c.373-4C>T" "r.spl?" "p.?" "" "0000568482" "00021595" "30" "373" "-4" "373" "-4" "c.373-4C>T" "r.spl?" "p.?" "" "0000568483" "00021595" "10" "373" "-10" "373" "-10" "c.373-10T>G" "r.(=)" "p.(=)" "" "0000568484" "00021595" "10" "373" "-15" "373" "-15" "c.373-15C>G" "r.(=)" "p.(=)" "" "0000568485" "00021595" "30" "373" "-15" "373" "-15" "c.373-15C>G" "r.(=)" "p.(=)" "" "0000568487" "00021595" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "" "0000568488" "00021595" "50" "236" "0" "236" "0" "c.236G>T" "r.(?)" "p.(Arg79Leu)" "" "0000568489" "00021595" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0000568491" "00021595" "30" "207" "0" "207" "0" "c.207C>G" "r.(?)" "p.(Arg69=)" "" "0000568492" "00021595" "10" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Arg68=)" "" "0000568493" "00021595" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Glu66=)" "" "0000568494" "00021595" "50" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000568495" "00021595" "50" "151" "-5" "151" "-4" "c.151-5_151-4insAGT" "r.spl?" "p.?" "" "0000568496" "00021595" "10" "151" "-106" "151" "-106" "c.151-106A>G" "r.(=)" "p.(=)" "" "0000568497" "00021595" "30" "150" "44" "150" "44" "c.150+44G>T" "r.(=)" "p.(=)" "" "0000568498" "00021595" "30" "150" "13" "150" "13" "c.150+13G>A" "r.(=)" "p.(=)" "" "0000568499" "00021595" "50" "139" "0" "139" "0" "c.139T>C" "r.(?)" "p.(Leu47=)" "" "0000568500" "00021595" "50" "127" "0" "127" "0" "c.127G>T" "r.(?)" "p.(Ala43Ser)" "" "0000568501" "00021595" "90" "114" "0" "114" "0" "c.114dup" "r.(?)" "p.(Ser39IlefsTer2)" "" "0000568502" "00021595" "10" "109" "-17" "109" "-17" "c.109-17C>A" "r.(=)" "p.(=)" "" "0000568503" "00021595" "30" "109" "-37" "109" "-37" "c.109-37C>T" "r.(=)" "p.(=)" "" "0000568504" "00021595" "10" "108" "108" "108" "108" "c.108+108G>C" "r.(=)" "p.(=)" "" "0000568505" "00021595" "10" "108" "89" "108" "89" "c.108+89G>A" "r.(=)" "p.(=)" "" "0000568506" "00021595" "30" "108" "34" "108" "34" "c.108+34C>T" "r.(=)" "p.(=)" "" "0000568507" "00021595" "10" "108" "21" "108" "21" "c.108+21G>A" "r.(=)" "p.(=)" "" "0000568508" "00021595" "30" "55" "0" "55" "0" "c.55A>G" "r.(?)" "p.(Ile19Val)" "" "0000568509" "00021595" "30" "45" "0" "45" "0" "c.45A>C" "r.(?)" "p.(Ala15=)" "" "0000568510" "00021595" "30" "25" "-4" "25" "-4" "c.25-4C>T" "r.spl?" "p.?" "" "0000568511" "00021595" "10" "25" "-8" "25" "-8" "c.25-8T>A" "r.(=)" "p.(=)" "" "0000568512" "00021595" "10" "25" "-10" "25" "-10" "c.25-10C>G" "r.(=)" "p.(=)" "" "0000568513" "00021595" "10" "25" "-28" "25" "-28" "c.25-28G>C" "r.(=)" "p.(=)" "" "0000568514" "00021595" "10" "12" "-50" "12" "-47" "c.12-50_12-47dup" "r.(=)" "p.(=)" "" "0000568516" "00021595" "10" "12" "-127" "12" "-127" "c.12-127A>G" "r.(=)" "p.(=)" "" "0000568517" "00021595" "10" "-35" "0" "-35" "0" "c.-35C>A" "r.(?)" "p.(=)" "" "0000568518" "00021595" "10" "-47" "0" "-47" "0" "c.-47C>T" "r.(?)" "p.(=)" "" "0000568519" "00021595" "10" "-98" "0" "-98" "0" "c.-98C>A" "r.(?)" "p.(=)" "" "0000568520" "00021595" "30" "-182" "0" "-182" "0" "c.-182del" "r.(?)" "p.(=)" "" "0000568521" "00021595" "30" "-1694" "0" "-1694" "0" "c.-1694G>A" "r.(?)" "p.(=)" "" "0000568523" "00021595" "50" "-1745" "0" "-1745" "0" "c.-1745G>C" "r.(?)" "p.(=)" "" "0000568524" "00021595" "90" "-1828" "0" "-1828" "0" "c.-1828dup" "r.(?)" "p.(=)" "" "0000568525" "00021595" "30" "-3098" "0" "-3098" "0" "c.-3098T>C" "r.(?)" "p.(=)" "" "0000568528" "00021595" "30" "-4705" "0" "-4705" "0" "c.-4705del" "r.(?)" "p.(=)" "" "0000568529" "00021595" "50" "-4706" "0" "-4706" "0" "c.-4706C>A" "r.(?)" "p.(=)" "" "0000617871" "00021595" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Glu202=)" "" "0000617872" "00021595" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ile195=)" "" "0000617873" "00021595" "10" "550" "-13" "550" "-13" "c.550-13C>T" "r.(=)" "p.(=)" "" "0000617876" "00021595" "50" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Thr143Asn)" "" "0000617878" "00021595" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Leu128=)" "" "0000617879" "00021595" "50" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Leu100Phe)" "" "0000617881" "00021595" "30" "246" "0" "246" "0" "c.246G>T" "r.(?)" "p.(Pro82=)" "" "0000617882" "00021595" "50" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "" "0000617884" "00021595" "30" "109" "-27" "109" "-27" "c.109-27C>T" "r.(=)" "p.(=)" "" "0000617885" "00021595" "30" "108" "13" "108" "14" "c.108+13_108+14insG" "r.(=)" "p.(=)" "" "0000617886" "00021595" "10" "12" "-46" "12" "-43" "c.12-46_12-43dup" "r.(=)" "p.(=)" "" "0000617887" "00021595" "30" "-116" "0" "-116" "0" "c.-116C>T" "r.(?)" "p.(=)" "" "0000617888" "00021595" "30" "-1685" "0" "-1685" "0" "c.-1685G>A" "r.(?)" "p.(=)" "" "0000624089" "00021595" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ile195=)" "" "0000624090" "00021595" "10" "109" "-17" "109" "-17" "c.109-17C>A" "r.(=)" "p.(=)" "" "0000650055" "00021595" "90" "548" "0" "548" "0" "c.548A>C" "r.(?)" "p.(Lys183Thr)" "" "0000650056" "00021595" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000650057" "00021595" "70" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000658664" "00021595" "50" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Ter211=)" "" "0000658665" "00021595" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000658666" "00021595" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Trp)" "" "0000658667" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000658668" "00021595" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000681510" "00021595" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Gly200Glu)" "" "0000681511" "00021595" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000681512" "00021595" "10" "25" "-4" "25" "-4" "c.25-4C>T" "r.spl?" "p.?" "" "0000681513" "00021595" "30" "-3194" "0" "-3194" "0" "c.-3194A>G" "r.(?)" "p.(=)" "" "0000692887" "00021595" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000692888" "00021595" "30" "151" "-6" "151" "-6" "c.151-6C>G" "r.(=)" "p.(=)" "" "0000692889" "00021595" "50" "143" "0" "143" "0" "c.143A>C" "r.(?)" "p.(Gln48Pro)" "" "0000692890" "00021595" "30" "-1710" "0" "-1710" "0" "c.-1710C>A" "r.(?)" "p.(=)" "" "0000692891" "00021595" "50" "-3160" "0" "-3160" "0" "c.-3160C>A" "r.(?)" "p.(=)" "" "0000700524" "00021595" "50" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Ser77Arg)" "" "0000700525" "00021595" "50" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Asp95Glu)" "" "0000700526" "00021595" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000700527" "00021595" "90" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Asp113Alafs*2)" "" "0000700528" "00021595" "50" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.(Asp127His)" "" "0000700529" "00021595" "50" "383" "0" "383" "0" "c.383T>A" "r.(?)" "p.(Leu128Gln)" "" "0000700530" "00021595" "70" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Gln130Arg)" "" "0000700531" "00021595" "50" "390" "0" "390" "0" "c.390G>C" "r.(?)" "p.(Gln130His)" "" "0000700532" "00021595" "70" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "0000700533" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000700534" "00021595" "70" "431" "0" "431" "0" "c.431T>C" "r.(?)" "p.(Leu144Pro)" "" "0000700535" "00021595" "90" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.(Arg145Gly)" "" "0000700536" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000700537" "00021595" "50" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Val147Leu)" "" "0000700538" "00021595" "70" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000700539" "00021595" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000700540" "00021595" "50" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000700541" "00021595" "50" "488" "0" "488" "0" "c.488C>G" "r.(?)" "p.(Ala163Gly)" "" "0000700542" "00021595" "50" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Lys164Glu)" "" "0000700543" "00021595" "50" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Leu169Argfs*8)" "" "0000700544" "00021595" "70" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000700545" "00021595" "50" "512" "0" "512" "0" "c.512C>A" "r.(?)" "p.(Ala171Asp)" "" "0000700546" "00021595" "90" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Lys178Glu)" "" "0000700547" "00021595" "90" "538" "0" "538" "0" "c.538del" "r.(?)" "p.(Asp180Thrfs*19)" "" "0000700548" "00021595" "70" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Lys183Asn)" "" "0000700549" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000700550" "00021595" "50" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Trp191*)" "" "0000700551" "00021595" "50" "581" "0" "581" "0" "c.581A>C" "r.(?)" "p.(Asn194Thr)" "" "0000700552" "00021595" "70" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000700553" "00021595" "50" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Ala197Gly)" "" "0000700554" "00021595" "50" "593" "0" "593" "0" "c.593T>G" "r.(?)" "p.(Leu198Arg)" "" "0000700555" "00021595" "70" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Ser199Asn)" "" "0000700556" "00021595" "70" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Met201Thr)" "" "0000700557" "00021595" "50" "605" "0" "605" "0" "c.605A>C" "r.(?)" "p.(Glu202Ala)" "" "0000700558" "00021595" "70" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000700559" "00021595" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000700560" "00021595" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000700561" "00021595" "70" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "" "0000700688" "00021595" "70" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000700689" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000701400" "00021595" "50" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000701401" "00021595" "50" "236" "0" "236" "0" "c.236G>T" "r.(?)" "p.(Arg79Leu)" "" "0000701402" "00021595" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000701403" "00021595" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000701404" "00021595" "50" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Thr143Asn)" "" "0000701405" "00021595" "90" "431" "0" "431" "0" "c.431T>C" "r.(?)" "p.(Leu144Pro)" "" "0000701406" "00021595" "90" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.(Arg145Gly)" "" "0000701407" "00021595" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "0000701408" "00021595" "70" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "" "0000701409" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000701410" "00021595" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000701411" "00021595" "70" "485" "0" "485" "0" "c.485G>C" "r.(?)" "p.(Arg162Pro)" "" "0000701412" "00021595" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000701413" "00021595" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000701414" "00021595" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000701415" "00021595" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Met)" "" "0000701416" "00021595" "90" "532" "0" "534" "0" "c.532_534del" "r.(?)" "p.(Lys178del)" "" "0000701417" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000701418" "00021595" "70" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Asp190Tyr)" "" "0000701419" "00021595" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192His)" "" "0000701420" "00021595" "70" "575" "0" "575" "0" "c.575G>T" "r.(?)" "p.(Arg192Leu)" "" "0000701421" "00021595" "50" "579" "0" "579" "0" "c.579G>C" "r.(?)" "p.(Lys193Asn)" "" "0000701422" "00021595" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000701423" "00021595" "50" "592" "0" "592" "0" "c.592C>G" "r.(?)" "p.(Leu198Val)" "" "0000701424" "00021595" "70" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Met201Thr)" "" "0000701425" "00021595" "50" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "" "0000701426" "00021595" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000701427" "00021595" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000701690" "00021595" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22His)" "" "0000701691" "00021595" "50" "356" "0" "356" "0" "c.356C>A" "r.(?)" "p.(Thr119Asn)" "" "0000701692" "00021595" "50" "488" "0" "488" "0" "c.488C>T" "r.(?)" "p.(Ala163Val)" "" "0000701693" "00021595" "70" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Glu182Lys)" "" "0000701694" "00021595" "70" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "" "0000727529" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000727530" "00021595" "50" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Lys50Arg)" "" "0000809053" "00021595" "50" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Lys183Asn)" "" "0000809054" "00021595" "50" "131" "0" "131" "0" "c.131C>G" "r.(?)" "p.(Ser44Trp)" "" "0000809055" "00021595" "50" "25" "0" "25" "0" "c.25G>T" "r.(?)" "p.(Ala9Ser)" "" "0000809056" "00021595" "30" "-1815" "0" "-1815" "0" "c.-1815C>T" "r.(?)" "p.(=)" "" "0000855696" "00021595" "90" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Glu209Ala)" "" "0000855697" "00021595" "30" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Lys205Arg)" "" "0000855698" "00021595" "70" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "" "0000855699" "00021595" "10" "484" "0" "484" "0" "c.484C>A" "r.(?)" "p.(Arg162=)" "" "0000855701" "00021595" "30" "372" "20" "372" "20" "c.372+20C>T" "r.(=)" "p.(=)" "" "0000855702" "00021595" "30" "109" "-8" "109" "-8" "c.109-8C>A" "r.(=)" "p.(=)" "" "0000855703" "00021595" "50" "108" "8" "108" "8" "c.108+8G>T" "r.(=)" "p.(=)" "" "0000855704" "00021595" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000866271" "00021595" "30" "495" "0" "495" "0" "c.495G>T" "r.(?)" "p.(Glu165Asp)" "" "0000878867" "00021595" "70" "588" "0" "588" "0" "c.588T>A" "r.(?)" "p.(Asp196Glu)" "8" "0000895129" "00021595" "50" "582" "0" "582" "0" "c.582C>A" "r.(?)" "p.(Asn194Lys)" "" "0000895130" "00021595" "50" "549" "4" "549" "7" "c.549+4_549+7del" "r.spl?" "p.?" "" "0000895131" "00021595" "50" "491" "0" "491" "0" "c.491A>C" "r.(?)" "p.(Lys164Thr)" "" "0000895132" "00021595" "90" "485" "0" "485" "0" "c.485G>C" "r.(?)" "p.(Arg162Pro)" "" "0000895133" "00021595" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000895134" "00021595" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000895135" "00021595" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Ala91=)" "" "0000895136" "00021595" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0000895137" "00021595" "50" "225" "0" "225" "0" "c.225T>G" "r.(?)" "p.(Ala75=)" "" "0000895138" "00021595" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Glu66Lys)" "" "0000895139" "00021595" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Ala28Val)" "" "0000895140" "00021595" "30" "12" "-7" "12" "-7" "c.12-7del" "r.(=)" "p.(=)" "" "0000895141" "00021595" "50" "-1805" "0" "-1805" "0" "c.-1805G>C" "r.(?)" "p.(=)" "" "0000915290" "00021595" "50" "308" "0" "308" "0" "c.308G>T" "r.(?)" "p.(Arg103Leu)" "" "0000915291" "00021595" "50" "37" "0" "37" "0" "c.37C>A" "r.(?)" "p.(Arg13Ser)" "" "0000918408" "00021595" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000926942" "00021595" "70" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asp180Gly)" "" "0000926943" "00021595" "50" "491" "0" "491" "0" "c.491A>C" "r.(?)" "p.(Lys164Thr)" "" "0000926944" "00021595" "50" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Gln59Glu)" "" "0000926945" "00021595" "50" "89" "0" "89" "0" "c.89C>A" "r.(?)" "p.(Ala30Asp)" "" "0000931104" "00021595" "10" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Glu202=)" "" "0000931105" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000931106" "00021595" "70" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Lys183Asn)" "" "0000931107" "00021595" "90" "532" "0" "534" "0" "c.532_534del" "r.(?)" "p.(Lys178del)" "" "0000951360" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000951361" "00021595" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000951362" "00021595" "10" "373" "-16" "373" "-16" "c.373-16C>T" "r.(=)" "p.(=)" "" "0000957774" "00021595" "70" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" "" "0000969994" "00021595" "30" "373" "-15" "373" "-15" "c.373-15C>G" "r.(=)" "p.(=)" "" "0000969995" "00021595" "10" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Glu110=)" "" "0000969996" "00021595" "30" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0000969997" "00021595" "50" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "" "0000969998" "00021595" "50" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Ile56Thr)" "" "0000969999" "00021595" "10" "150" "15" "150" "15" "c.150+15G>A" "r.(=)" "p.(=)" "" "0000971556" "00021595" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "0000983655" "00021595" "50" "641" "0" "641" "0" "c.*8del" "r.(?)" "p.(=)" "" "0000983656" "00021595" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "" "0000983657" "00021595" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000983658" "00021595" "10" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(=)" "" "0000983659" "00021595" "30" "-2300" "0" "-2300" "0" "c.-2300G>T" "r.(?)" "p.(=)" "" "0000983660" "00021595" "30" "-3102" "0" "-3102" "0" "c.-3102G>A" "r.(?)" "p.(=)" "" "0000983661" "00021595" "50" "-3139" "0" "-3139" "0" "c.-3139C>G" "r.(?)" "p.(=)" "" "0000983662" "00021595" "50" "-3498" "0" "-3498" "0" "c.-3498C>T" "r.(?)" "p.(=)" "" "0000983663" "00021595" "50" "-3537" "0" "-3537" "0" "c.-3537C>A" "r.(?)" "p.(=)" "" "0000983664" "00021595" "30" "-3556" "0" "-3556" "0" "c.-3556G>A" "r.(?)" "p.(=)" "" "0000983665" "00021595" "50" "-4174" "0" "-4173" "0" "c.-4174_-4173dup" "r.(?)" "p.(=)" "" "0000983666" "00021595" "30" "-4697" "0" "-4697" "0" "c.-4697A>G" "r.(?)" "p.(=)" "" "0000989659" "00021595" "50" "114" "0" "114" "0" "c.114A>T" "r.(?)" "p.(Lys38Asn)" "" "0001005135" "00021595" "30" "282" "17" "282" "17" "c.282+17A>T" "r.(=)" "p.(=)" "" "0001005136" "00021595" "30" "282" "16" "282" "16" "c.282+16G>T" "r.(=)" "p.(=)" "" "0001005137" "00021595" "50" "119" "0" "119" "0" "c.119A>T" "r.(?)" "p.(Lys40Met)" "" "0001005138" "00021595" "30" "-1510" "0" "-1510" "0" "c.-1510C>T" "r.(?)" "p.(=)" "" "0001007606" "00021595" "70" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Gly160Glu)" "" "0001018821" "00021595" "50" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Lys50Gln)" "" "0001020076" "00021595" "50" "603" "0" "603" "0" "c.603G>C" "r.(?)" "p.(Met201Ile)" "" "0001027268" "00021595" "70" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(Asn185Lys)" "" "0001027269" "00021595" "90" "204" "0" "204" "0" "c.204del" "r.(?)" "p.(Arg69Alafs*8)" "" "0001027270" "00021595" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0001027271" "00021595" "50" "-3535" "0" "-3535" "0" "c.-3535T>G" "r.(?)" "p.(=)" "" "0001027272" "00021595" "30" "-3556" "0" "-3556" "0" "c.-3556G>A" "r.(?)" "p.(=)" "" "0001030077" "00021595" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0001043179" "00021595" "70" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(Asn185Lys)" "" "0001043180" "00021595" "70" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "0001043181" "00021595" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Arg68=)" "" "0001047989" "00021595" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0001056804" "00021595" "50" "347" "0" "347" "0" "c.347C>G" "r.(?)" "p.(Ala116Gly)" "" "0001056805" "00021595" "50" "-1481" "0" "-1481" "0" "c.-1481G>A" "r.(?)" "p.(=)" "" "0001056806" "00021595" "50" "-1843" "0" "-1843" "0" "c.-1843G>A" "r.(?)" "p.(=)" "" "0001056807" "00021595" "90" "-3102" "0" "-3102" "0" "c.-3102dup" "r.(?)" "p.(=)" "" "0001057556" "00021595" "90" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0001067273" "00021595" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "" "0001067274" "00021595" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0001067275" "00021595" "70" "150" "1" "150" "1" "c.150+1G>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 261 "{{screeningid}}" "{{variantid}}" "0000016262" "0000036034" "0000064225" "0000095275" "0000064235" "0000095314" "0000064239" "0000095329" "0000064298" "0000095548" "0000064303" "0000095567" "0000064359" "0000095747" "0000109167" "0000175259" "0000109168" "0000175260" "0000109169" "0000175261" "0000109170" "0000175262" "0000129283" "0000218437" "0000129297" "0000218458" "0000155378" "0000355141" "0000155379" "0000355142" "0000155380" "0000355143" "0000155381" "0000355144" "0000155382" "0000355145" "0000155383" "0000355146" "0000155384" "0000355147" "0000155385" "0000355148" "0000155386" "0000355149" "0000155387" "0000355150" "0000155388" "0000355151" "0000155389" "0000355152" "0000155390" "0000355153" "0000155391" "0000355154" "0000155392" "0000355155" "0000155393" "0000355156" "0000155394" "0000355157" "0000155395" "0000355158" "0000155396" "0000355159" "0000155397" "0000355160" "0000155398" "0000355161" "0000155399" "0000355162" "0000155400" "0000355163" "0000155401" "0000355164" "0000155402" "0000355165" "0000155403" "0000355166" "0000155404" "0000355167" "0000155405" "0000355168" "0000155406" "0000355169" "0000155407" "0000355170" "0000155408" "0000355171" "0000155409" "0000355172" "0000155410" "0000355173" "0000155411" "0000355174" "0000155412" "0000355175" "0000155413" "0000355176" "0000155414" "0000355177" "0000155415" "0000355178" "0000155416" "0000355179" "0000155417" "0000355180" "0000155418" "0000355181" "0000155419" "0000355182" "0000155420" "0000355183" "0000155421" "0000355184" "0000155422" "0000355185" "0000155423" "0000355186" "0000155424" "0000355187" "0000155425" "0000355188" "0000155425" "0000355189" "0000155426" "0000355190" "0000155427" "0000355191" "0000155428" "0000355192" "0000155429" "0000355193" "0000155430" "0000355194" "0000155431" "0000355195" "0000155432" "0000355196" "0000155433" "0000355197" "0000155434" "0000355198" "0000155435" "0000355199" "0000155436" "0000355200" "0000155437" "0000355201" "0000155438" "0000355202" "0000155439" "0000355203" "0000155440" "0000355204" "0000155441" "0000355205" "0000155442" "0000355206" "0000155443" "0000355207" "0000155444" "0000355208" "0000155445" "0000355209" "0000155446" "0000355210" "0000155447" "0000355211" "0000155448" "0000355212" "0000155449" "0000355213" "0000155450" "0000355214" "0000155451" "0000355215" "0000155452" "0000355216" "0000155453" "0000355217" "0000155454" "0000355218" "0000155455" "0000355219" "0000155456" "0000355220" "0000155457" "0000355221" "0000155458" "0000355222" "0000155459" "0000355223" "0000155460" "0000355224" "0000155461" "0000355225" "0000155462" "0000355226" "0000155463" "0000355227" "0000155464" "0000355228" "0000155465" "0000355229" "0000155466" "0000355230" "0000155467" "0000355231" "0000155468" "0000355232" "0000155469" "0000355233" "0000155470" "0000355234" "0000155471" "0000355235" "0000155472" "0000355236" "0000155473" "0000355237" "0000155474" "0000355238" "0000155475" "0000355239" "0000155476" "0000355240" "0000155477" "0000355241" "0000155477" "0000355242" "0000155477" "0000355243" "0000155478" "0000355244" "0000155479" "0000355245" "0000155479" "0000355246" "0000155480" "0000355247" "0000155481" "0000355248" "0000155482" "0000355249" "0000155483" "0000355250" "0000155484" "0000355251" "0000155485" "0000355252" "0000155486" "0000355253" "0000155487" "0000355254" "0000155488" "0000355255" "0000155489" "0000355256" "0000155490" "0000355257" "0000155491" "0000355258" "0000155492" "0000355259" "0000155492" "0000355260" "0000155493" "0000355261" "0000155494" "0000355262" "0000155494" "0000355263" "0000155495" "0000355264" "0000155496" "0000355265" "0000155496" "0000355266" "0000155497" "0000355267" "0000155498" "0000355268" "0000155498" "0000355269" "0000155499" "0000355270" "0000155500" "0000355271" "0000155501" "0000355272" "0000155502" "0000355273" "0000155503" "0000355274" "0000155504" "0000355275" "0000155505" "0000355276" "0000155506" "0000355277" "0000155507" "0000355278" "0000155508" "0000355279" "0000155509" "0000355280" "0000155510" "0000355281" "0000155511" "0000355282" "0000155512" "0000355283" "0000155513" "0000355284" "0000155514" "0000355285" "0000155515" "0000355286" "0000155516" "0000355287" "0000155517" "0000355288" "0000155518" "0000355289" "0000155519" "0000355290" "0000155520" "0000355291" "0000155521" "0000355292" "0000155522" "0000355293" "0000155523" "0000355294" "0000155524" "0000355295" "0000155525" "0000355296" "0000155526" "0000355297" "0000155527" "0000355298" "0000155528" "0000355299" "0000155530" "0000355301" "0000155531" "0000355302" "0000155532" "0000355303" "0000155533" "0000355304" "0000155534" "0000355305" "0000205317" "0000434678" "0000226706" "0000459050" "0000229343" "0000470534" "0000293366" "0000650055" "0000293367" "0000650056" "0000293368" "0000650057" "0000317918" "0000700524" "0000317919" "0000700525" "0000317920" "0000700526" "0000317921" "0000700527" "0000317922" "0000700528" "0000317923" "0000700529" "0000317924" "0000700530" "0000317925" "0000700531" "0000317926" "0000700532" "0000317927" "0000700533" "0000317928" "0000700534" "0000317929" "0000700535" "0000317930" "0000700536" "0000317931" "0000700537" "0000317932" "0000700538" "0000317933" "0000700539" "0000317934" "0000700540" "0000317935" "0000700541" "0000317936" "0000700542" "0000317937" "0000700543" "0000317938" "0000700544" "0000317939" "0000700545" "0000317940" "0000700546" "0000317941" "0000700547" "0000317942" "0000700548" "0000317943" "0000700549" "0000317944" "0000700550" "0000317945" "0000700551" "0000317946" "0000700552" "0000317947" "0000700553" "0000317948" "0000700554" "0000317949" "0000700555" "0000317950" "0000700556" "0000317951" "0000700557" "0000317952" "0000700558" "0000317953" "0000700559" "0000317954" "0000700560" "0000317955" "0000700561" "0000318082" "0000700688" "0000318083" "0000700689" "0000318794" "0000701400" "0000318795" "0000701401" "0000318796" "0000701402" "0000318797" "0000701403" "0000318798" "0000701404" "0000318799" "0000701405" "0000318800" "0000701406" "0000318801" "0000701407" "0000318802" "0000701408" "0000318803" "0000701409" "0000318804" "0000701410" "0000318805" "0000701411" "0000318806" "0000701412" "0000318807" "0000701413" "0000318808" "0000701414" "0000318809" "0000701415" "0000318810" "0000701416" "0000318811" "0000701417" "0000318812" "0000701418" "0000318813" "0000701419" "0000318814" "0000701420" "0000318815" "0000701421" "0000318816" "0000701422" "0000318817" "0000701423" "0000318818" "0000701424" "0000318819" "0000701425" "0000318820" "0000701426" "0000318821" "0000701427" "0000319084" "0000701690" "0000319085" "0000701691" "0000319086" "0000701692" "0000319087" "0000701693" "0000319088" "0000701694" "0000418951" "0000878867" "0000448367" "0000957774" "0000454758" "0000989659" "0000467441" "0000471087" "0000467442" "0000471088"