### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJA5) # 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}}" "GJA5" "gap junction protein, alpha 5, 40kDa" "1" "q21.1" "unknown" "NG_009369.2" "UD_132118519608" "" "http://www.LOVD.nl/GJA5" "" "1" "4279" "2702" "121013" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/GJA5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-05-19 21:29:47" "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}}" "00024137" "GJA5" "transcript variant A" "002" "NM_005266.6" "" "NP_005257.2" "" "" "" "-144" "3015" "1077" "147245466" "147228332" "00006" "2016-05-19 21:30:08" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01187" "ATRST1" "standstill, atrial, type 1 (ATRST-1)" "AD" "108770" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03530" "ATFB11" "fibrillation, atrial, familial, type 11 (ATFB11)" "AD" "614049" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04203" "ATFB" "fibrillation, atrial (ATFB)" "" "" "" "" "" "00006" "2015-02-20 20:57:29" "" "" "05582" "ATRST" "standstill, atrial (ATRST)" "" "" "" "" "" "00006" "2019-03-09 14:31:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GJA5" "01187" "GJA5" "03530" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00050487" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050570" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00065136" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y03m" "0" "" "" "Europe" "SIDS075" "00226567" "" "" "" "1" "" "01162" "" "" "" "" "" "" "0" "" "" "" "Family 3, II-2" "00226568" "" "" "" "1" "" "01162" "{PMID:Sun 2013:23348765}, {DOI:Sun 2013:10.1002/humu.22278}" "" "F" "" "" "" "0" "" "" "" "Family 1, III-2" "00226569" "" "" "" "3" "" "00006" "{PMID:Gollob 2006:16790700}" "father and 2 unaffected sons (ECG prolonged P-wave duration)" "" "" "Canada" "" "0" "" "" "" "16790700-Pat4" "00226570" "" "" "" "3" "" "00006" "{PMID:Yang 2010:20650941}" "3-generation family, 4 affecteds" "" "" "China" "" "0" "" "" "" "20650941-Fam1" "00226571" "" "" "" "3" "" "00006" "{PMID:Yang 2010:20650941}" "3-generation family, 3 affecteds" "" "" "China" "" "0" "" "" "" "20650941-Fam2" "00226572" "" "" "" "3" "" "00006" "{PMID:Yang 2010:20650941}" "3-generation family, 3 affecteds" "" "" "China" "" "0" "" "" "" "20650941-Fam3" "00226573" "" "" "" "7" "" "00006" "{PMID:Yang 2010:20818502}" "3-generation family, 8 affecteds, fully penetrant" "" "" "China" "" "0" "" "" "" "20818502-Fam1" "00226574" "" "" "" "1" "" "00006" "{PMID:Gollob 2006:16790700}" "" "" "" "Canada" "" "0" "" "" "" "16790700-Pat1" "00226575" "" "" "" "1" "" "00006" "{PMID:Gollob 2006:16790700}" "" "" "" "Canada" "" "0" "" "" "" "16790700-Pat2" "00226576" "" "" "" "1" "" "00006" "{PMID:Gollob 2006:16790700}" "" "" "" "Canada" "" "0" "" "" "" "16790700-Pat3" "00226577" "" "" "" "4" "" "00006" "{PMID:Groenewegen 2003:12522116}" "4-generation family, 4 affecteds" "" "" "Netherlands" "" "0" "" "" "" "12522116-FamAff" "00226578" "" "" "" "5" "" "00006" "{PMID:Groenewegen 2003:12522116}" "4-generation family, 5 unaffecteds" "" "" "Netherlands" "" "0" "" "" "" "12522116-FamUnAff" "00226579" "" "" "" "3" "" "00006" "{PMID:Groenewegen 2003:12522116}" "4-generation family, 3 unaffecteds" "" "" "Netherlands" "" "0" "" "" "" "12522116-FamUnAff" "00226580" "" "" "" "14" "" "00006" "{PMID:Groenewegen 2003:12522116}" "4-generation family, 14 unaffecteds" "" "" "Netherlands" "" "0" "" "" "" "12522116-FamUnAff" "00226581" "" "" "" "4" "" "00006" "{PMID:Groenewegen 2003:12522116}" "controls" "" "" "Netherlands" "" "0" "" "" "" "12522117-con" "00226582" "" "" "" "19" "" "00006" "{PMID:Groenewegen 2003:12522116}" "controls" "" "" "Netherlands" "" "0" "" "" "" "12522117-con" "00226583" "" "" "" "5" "" "00006" "{PMID:Groenewegen 2003:12522116}" "controls" "" "" "Netherlands" "" "0" "" "" "" "12522117-con" "00226584" "" "" "" "3" "" "00006" "{PMID:Groenewegen 2003:12522116}" "controls" "" "" "Netherlands" "" "0" "" "" "" "12522117-con" "00226585" "" "" "" "1" "" "00006" "{PMID:Wirka 2011:21076161}" "" "" "" "" "" "0" "" "" "" "21076161-con" "00226586" "" "" "" "1" "" "00006" "{PMID:Wirka 2011:21076161}" "" "" "" "" "" "0" "" "" "" "21076161-con" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00050487" "00198" "00050570" "00198" "00065136" "02087" "00226567" "04203" "00226568" "04203" "00226569" "04203" "00226570" "04203" "00226571" "04203" "00226572" "04203" "00226573" "04203" "00226574" "04203" "00226575" "04203" "00226576" "04203" "00226577" "05582" "00226578" "00000" "00226579" "00000" "00226580" "00000" "00226581" "00000" "00226582" "00000" "00226583" "00000" "00226584" "00000" "00226585" "04203" "00226586" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01187, 02087, 03530, 04203, 05582 ## Count = 22 "{{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}}" "0000037099" "00198" "00050487" "00006" "Isolated (sporadic)" "" "global developmental delay, microcephaly, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000037182" "00198" "00050570" "00006" "Unknown" "" "brachycephaly, gastroesophageal reflux, delayed speech and language development, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000051241" "02087" "00065136" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000171680" "04203" "00226567" "01162" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171681" "04203" "00226568" "01162" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171682" "04203" "00226569" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171683" "04203" "00226570" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171684" "04203" "00226571" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171685" "04203" "00226572" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171686" "04203" "00226573" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation" "" "0000171687" "04203" "00226574" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation, idiopathic" "" "0000171688" "04203" "00226575" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation, idiopathic" "" "0000171689" "04203" "00226576" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "ATFB-11" "atrial fibrillation, idiopathic" "" "0000171690" "05582" "00226577" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "atrial standstill, association with" "" "0000171691" "00000" "00226578" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171692" "00000" "00226579" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171693" "00000" "00226580" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171694" "00000" "00226581" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171695" "00000" "00226582" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171696" "00000" "00226583" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171697" "00000" "00226584" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171698" "04203" "00226585" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "atrial fibrilation, associted with" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050432" "00050487" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050515" "00050570" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065287" "00065136" "1" "01602" "01602" "2016-05-19 13:48:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000227655" "00226567" "1" "01162" "00006" "2012-11-18 02:15:20" "" "" "SEQ" "DNA" "" "" "0000227656" "00226568" "1" "01162" "00006" "2012-11-18 02:37:01" "" "" "SEQ" "DNA" "" "" "0000227657" "00226569" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227658" "00226570" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227659" "00226571" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227660" "00226572" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227661" "00226573" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227662" "00226574" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000227663" "00226575" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000227664" "00226576" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000227665" "00226577" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227666" "00226578" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227667" "00226579" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227668" "00226580" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227669" "00226581" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227670" "00226582" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227671" "00226583" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227672" "00226584" "1" "00006" "00006" "2012-11-25 13:22:08" "" "" "SEQ" "DNA" "" "" "0000227673" "00226585" "1" "00006" "00006" "2012-11-25 14:41:13" "00006" "2012-11-25 15:03:47" "SEQ" "DNA" "" "" "0000227674" "00226586" "1" "00006" "00006" "2012-11-25 15:01:32" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000050432" "CAMTA1" "0000227655" "GJA5" "0000227656" "GJA5" "0000227657" "GJA5" "0000227658" "GJA5" "0000227659" "GJA5" "0000227660" "GJA5" "0000227661" "GJA5" "0000227662" "GJA5" "0000227663" "GJA5" "0000227664" "GJA5" "0000227665" "GJA5" "0000227666" "GJA5" "0000227667" "GJA5" "0000227668" "GJA5" "0000227669" "GJA5" "0000227670" "GJA5" "0000227671" "GJA5" "0000227672" "GJA5" "0000227673" "GJA5" "0000227674" "GJA5" ## 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 = 66 "{{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}}" "0000079495" "11" "90" "1" "145752381" "148936712" "del" "0" "00006" "ACP6_000003" "g.145752381_148936712del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000079664" "11" "90" "1" "145765433" "148250973" "dup" "0" "00006" "ACP6_000002" "g.145765433_148250973dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000096961" "0" "50" "1" "147231061" "147231061" "subst" "0.000117923" "01602" "GJA5_000003" "g.147231061C>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs121434557" "0" "" "" "g.147758953C>A" "" "VUS" "" "0000277068" "0" "10" "1" "147230281" "147230281" "subst" "0" "02330" "GJA5_000022" "g.147230281G>A" "" "" "" "GJA5(NM_005266.6):c.1066C>T (p.L356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147758173G>A" "" "benign" "" "0000277069" "0" "50" "1" "147231061" "147231061" "subst" "0.000117923" "02330" "GJA5_000003" "g.147231061C>A" "" "" "" "GJA5(NM_005266.6):c.286G>T (p.A96S), GJA5(NM_181703.4):c.286G>T (p.(Ala96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147758953C>A" "" "VUS" "" "0000277070" "0" "10" "1" "147230978" "147230978" "subst" "0.00908559" "02330" "GJA5_000025" "g.147230978G>A" "" "" "" "GJA5(NM_005266.6):c.369C>T (p.Y123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147758870G>A" "" "benign" "" "0000277071" "0" "30" "1" "147230822" "147230822" "subst" "1.22174E-5" "02330" "GJA5_000024" "g.147230822G>A" "" "" "" "GJA5(NM_005266.6):c.525C>T (p.Y175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147758714G>A" "" "likely benign" "" "0000277072" "0" "50" "1" "147230374" "147230374" "subst" "6.49836E-5" "02330" "GJA5_000023" "g.147230374T>G" "" "" "" "GJA5(NM_005266.6):c.973A>C (p.N325H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147758266T>G" "" "VUS" "" "0000467873" "20" "90" "1" "147230662" "147230662" "subst" "0" "01162" "GJA5_000001" "g.147230662G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147758554G>T" "" "pathogenic (dominant)" "" "0000467874" "11" "90" "1" "147231124" "147231124" "subst" "0" "01162" "GJA5_000002" "g.147231124T>A" "" "{PMID:Sun 2013:23348765}, {DOI:Sun 2013:10.1002/humu.22278}" "" "" "" "Germline" "" "" "0" "" "" "g.147759016T>A" "" "pathogenic (dominant)" "" "0000467875" "1" "90" "1" "147231061" "147231061" "subst" "0.000117923" "00006" "GJA5_000003" "g.147231061C>A" "1/15 cases" "{PMID:Gollob 2006:16790700}, {OMIM121013:0001}" "" "" "in caridac and lymphocyte tissue" "Germline" "" "rs121434557" "0" "" "" "g.147758953C>A" "" "pathogenic (dominant)" "" "0000467876" "1" "90" "1" "147231094" "147231094" "subst" "0" "00006" "GJA5_000004" "g.147231094C>T" "1/218 families" "{PMID:Yang 2010:20650941}, {OMIM121013:0004}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.147758986C>T" "" "pathogenic (dominant)" "" "0000467877" "1" "90" "1" "147230686" "147230686" "subst" "0" "00006" "GJA5_000005" "g.147230686G>T" "1/218 families" "{PMID:Yang 2010:20650941}, {OMIM121013:0005}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.147758578G>T" "" "pathogenic (dominant)" "" "0000467878" "1" "90" "1" "147230662" "147230662" "subst" "0" "00006" "GJA5_000001" "g.147230662G>T" "1/218 families" "{PMID:Yang 2010:20650941}, {OMIM121013:0006}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.147758554G>T" "" "pathogenic (dominant)" "" "0000467879" "1" "90" "1" "147231202" "147231202" "subst" "0" "00006" "GJA5_000006" "g.147231202G>A" "1/126 families" "{PMID:Yang 2010:20818502}, {OMIM121013:0003}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.147759094G>A" "" "pathogenic (dominant)" "" "0000467880" "1" "90" "1" "147231085" "147231085" "subst" "0" "00006" "GJA5_000010" "g.147231085G>A" "1/15 cases" "{PMID:Gollob 2006:16790700}, {OMIM121013:0002}" "" "" "in caridac tissue, not lymphocytes" "Somatic" "" "" "0" "" "" "g.147758977G>A" "" "pathogenic (dominant)" "" "0000467881" "1" "90" "1" "147231085" "147231085" "subst" "0" "00006" "GJA5_000007" "g.147231085G>A" "1/15 cases" "{PMID:Gollob 2006:16790700}, {OMIM121013:0002}" "" "" "in caridac tissue, not lymphocytes" "Somatic" "" "" "0" "" "" "g.147758977G>A" "" "pathogenic (dominant)" "" "0000467882" "2" "70" "1" "147231234" "147231234" "subst" "0" "00006" "GJA5_000009" "g.147231234C>T" "1/15 cases" "{PMID:Gollob 2006:16790700}" "" "" "in caridac tissue, not lymphocytes" "Somatic" "" "" "0" "" "" "g.147759126C>T" "" "likely pathogenic (dominant)" "" "0000467883" "1" "70" "1" "147230860" "147230860" "subst" "0" "00006" "GJA5_000008" "g.147230860T>C" "1/15 cases" "{PMID:Gollob 2006:16790700}" "" "" "in caridac tissue, not lymphocytes" "Somatic" "" "" "0" "" "" "g.147758752T>C" "" "likely pathogenic (dominant)" "" "0000467884" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "disease causing when homozygous and in combination with SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "association" "" "0000467885" "2" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "disease causing when homozygous and in combination with SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "association" "" "0000467886" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "disease causing when homozygous and in combination with SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "association" "" "0000467887" "2" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "disease causing when homozygous and in combination with SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "association" "" "0000467888" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "do not carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467889" "2" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "do not carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467890" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "do not carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467891" "2" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "do not carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467892" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467893" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467894" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "do not carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467895" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "do not carry SCN5A:c.3823G>A (D1275N)" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467896" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "4/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "60 controls analysed" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467897" "2" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "4/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "60 controls analysed" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467898" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "4/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "60 controls analysed" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467899" "2" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "4/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "60 controls analysed" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467900" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "19/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "60 controls analysed" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467901" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "19/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "60 controls analysed" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467902" "1" "70" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "5/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "60 controls analysed" "Germline" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "likely pathogenic (dominant)" "" "0000467903" "1" "70" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "3/60 controls" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "60 controls analysed" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely pathogenic (dominant)" "" "0000467904" "0" "70" "1" "147232740" "147232740" "subst" "0" "00006" "GJA5_000012" "g.147232740C>T" "" "{PMID:Wirka 2011:21076161}" "" "" "affects transcript variant-2 mRNA expression, 4.3 fold reduced (31 atrial RNA samples); no effect on transcript variant 1; associated with atrial fibrilation (OR=1.16, P=0.022)" "Germline" "" "" "0" "" "" "g.147760632=" "" "association" "" "0000467905" "0" "30" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Wirka 2011:21076161}" "" "-44G>A" "weak assocition with mRNA expression level (1.3 fold increased)" "Germline" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "likely benign" "" "0000467906" "0" "50" "1" "147231085" "147231085" "subst" "0" "00006" "GJA5_000010" "g.147231085G>A" "" "" "" "" "" "Germline" "" "rs121434558" "0" "" "" "g.147758977G>A" "" "VUS" "" "0000467907" "0" "50" "1" "147232740" "147232740" "subst" "0" "00006" "GJA5_000012" "g.147232740C>T" "0.41-0.63" "" "" "" "" "Germline" "" "rs10465885" "0" "" "" "g.147760632=" "" "VUS" "" "0000467908" "0" "50" "1" "147246903" "147246903" "subst" "0" "00006" "GJA5_000014" "g.147246903T>G" "" "" "" "c.-162-1419A>C" "in perfect LD with -175G>A and -61A>G" "Germline" "" "rs12408178" "0" "" "" "g.147774791T>G" "" "VUS" "" "0000467909" "1" "90" "1" "147245383" "147245383" "subst" "0" "00006" "GJA5_000011" "g.147245383T>C" "" "{PMID:Groenewegen 2003:12522116}" "" "+71A>G" "expression cloning 0.65 reduced promoter activity" "In vitro (cloned)" "" "rs11552588" "0" "" "" "g.147773279T>C" "" "pathogenic (dominant)" "" "0000467910" "1" "90" "1" "147245497" "147245497" "subst" "0" "00006" "GJA5_000013" "g.147245497C>T" "" "{PMID:Groenewegen 2003:12522116}" "" "-44G>A" "expression cloning 0.65 reduced promoter activity" "In vitro (cloned)" "" "rs35594137" "0" "" "" "g.147773393C>T" "" "pathogenic (dominant)" "" "0000503028" "0" "50" "1" "147230352" "147230352" "subst" "0.000113735" "02330" "GJA5_000027" "g.147230352C>T" "" "" "" "GJA5(NM_005266.6):c.995G>A (p.R332H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758244C>T" "" "VUS" "" "0000503029" "0" "30" "1" "147230617" "147230617" "subst" "1.62649E-5" "01804" "GJA5_000028" "g.147230617G>A" "" "" "" "GJA5(NM_005266.5):c.730C>T (p.(His244Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758509G>A" "" "likely benign" "" "0000503030" "0" "10" "1" "147230621" "147230621" "subst" "0.000219575" "02330" "GJA5_000029" "g.147230621C>T" "" "" "" "GJA5(NM_005266.6):c.726G>A (p.R242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758513C>T" "" "benign" "" "0000503031" "0" "50" "1" "147230844" "147230844" "dup" "0" "02327" "GJA5_000030" "g.147230844dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758736dup" "" "VUS" "" "0000503032" "0" "10" "1" "147230978" "147230978" "subst" "0.00908559" "02327" "GJA5_000025" "g.147230978G>A" "" "" "" "GJA5(NM_005266.6):c.369C>T (p.Y123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758870G>A" "" "benign" "" "0000503033" "0" "50" "1" "147231061" "147231061" "subst" "0.000117923" "02327" "GJA5_000003" "g.147231061C>A" "" "" "" "GJA5(NM_005266.6):c.286G>T (p.A96S), GJA5(NM_181703.4):c.286G>T (p.(Ala96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758953C>A" "" "VUS" "" "0000503034" "0" "50" "1" "147231294" "147231294" "subst" "4.0713E-6" "02327" "GJA5_000031" "g.147231294G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147759186G>A" "" "VUS" "" "0000604774" "0" "50" "1" "147230554" "147230554" "subst" "0.000203184" "02330" "GJA5_000026" "g.147230554G>A" "" "" "" "GJA5(NM_005266.6):c.793C>T (p.P265S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147758446G>A" "" "VUS" "" "0000675458" "0" "50" "1" "147230584" "147230584" "subst" "0" "02330" "GJA5_000032" "g.147230584C>A" "" "" "" "GJA5(NM_005266.6):c.763G>T (p.V255L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687859" "0" "50" "1" "147230322" "147230322" "subst" "0" "02330" "GJA5_000033" "g.147230322C>T" "" "" "" "GJA5(NM_005266.6):c.1025G>A (p.R342Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716776" "0" "50" "1" "147230853" "147230853" "subst" "0" "01943" "GJA5_000034" "g.147230853A>G" "" "" "" "GJA5(NM_005266.6):c.494T>C (p.V165A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798760" "0" "50" "1" "147231061" "147231061" "subst" "0.000117923" "02326" "GJA5_000003" "g.147231061C>A" "" "" "" "GJA5(NM_005266.6):c.286G>T (p.A96S), GJA5(NM_181703.4):c.286G>T (p.(Ala96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848286" "0" "50" "1" "147230625" "147230625" "subst" "1.22004E-5" "02330" "GJA5_000035" "g.147230625G>C" "" "" "" "GJA5(NM_005266.6):c.722C>G (p.P241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856951" "0" "50" "1" "147230852" "147230852" "del" "0" "02330" "GJA5_000036" "g.147230852del" "" "" "" "GJA5(NM_005266.6):c.497delG (p.G166Afs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882752" "0" "50" "1" "147230322" "147230322" "subst" "0" "02326" "GJA5_000033" "g.147230322C>T" "" "" "" "GJA5(NM_005266.6):c.1025G>A (p.R342Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882753" "0" "50" "1" "147230977" "147230978" "del" "8.13359E-6" "02327" "GJA5_000037" "g.147230977_147230978del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882754" "0" "30" "1" "147231334" "147231334" "subst" "0.000509169" "02330" "GJA5_000038" "g.147231334T>C" "" "" "" "GJA5(NM_005266.6):c.13A>G (p.S5G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024022" "0" "50" "1" "147230695" "147230695" "subst" "0" "02330" "GJA5_000039" "g.147230695A>C" "" "" "" "GJA5(NM_005266.6):c.652T>G (p.S218A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031233" "0" "50" "1" "147231061" "147231061" "subst" "0.000117923" "01804" "GJA5_000003" "g.147231061C>A" "" "" "" "GJA5(NM_005266.6):c.286G>T (p.A96S), GJA5(NM_181703.4):c.286G>T (p.(Ala96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063134" "0" "50" "1" "147231061" "147231061" "subst" "0.000117923" "02325" "GJA5_000003" "g.147231061C>A" "" "" "" "GJA5(NM_005266.6):c.286G>T (p.A96S), GJA5(NM_181703.4):c.286G>T (p.(Ala96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GJA5 ## Count = 66 "{{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}}" "0000079495" "00024137" "00" "-1691390" "0" "1478966" "0" "c.-1691390_*1477889del" "r.0?" "p.0?" "" "0000079664" "00024137" "00" "-1005651" "0" "1465914" "0" "c.-1005651_*1464837dup" "" "" "" "0000096961" "00024137" "50" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "2" "0000277068" "00024137" "10" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Leu356=)" "" "0000277069" "00024137" "50" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "" "0000277070" "00024137" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Tyr123=)" "" "0000277071" "00024137" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Tyr175=)" "" "0000277072" "00024137" "50" "973" "0" "973" "0" "c.973A>C" "r.(?)" "p.(Asn325His)" "" "0000467873" "00024137" "90" "685" "0" "685" "0" "c.685C>A" "r.(?)" "p.(Leu229Met)" "2" "0000467874" "00024137" "90" "223" "0" "223" "0" "c.223A>T" "r.(?)" "p.(Ile75Phe)" "2" "0000467875" "00024137" "90" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "2" "0000467876" "00024137" "90" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Ile)" "2" "0000467877" "00024137" "90" "661" "0" "661" "0" "c.661C>A" "r.(?)" "p.(Leu221Ile)" "2" "0000467878" "00024137" "90" "685" "0" "685" "0" "c.685C>A" "r.(?)" "p.(Leu229Met)" "2" "0000467879" "00024137" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Gln49*)" "2" "0000467880" "00024137" "90" "262" "0" "262" "0" "c.262C>T" "r.262c>u" "p.Pro88Ser" "2" "0000467881" "00024137" "90" "262" "0" "262" "0" "c.262C>T" "r.262c>u" "p.Pro88Ser" "2" "0000467882" "00024137" "70" "113" "0" "113" "0" "c.113G>A" "r.113g>a" "p.Gly38Asp" "2" "0000467883" "00024137" "70" "487" "0" "487" "0" "c.487A>G" "r.487a>g" "p.Met163Val" "2" "0000467884" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467885" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467886" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467887" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467888" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467889" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467890" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467891" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467892" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467893" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467894" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467895" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467896" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467897" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467898" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467899" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467900" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467901" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467902" "00024137" "70" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467903" "00024137" "70" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467904" "00024137" "70" "-33" "-1361" "-33" "-1361" "c.-33-1361G>A" "r.(?)" "p.(=)" "1i" "0000467905" "00024137" "30" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000467906" "00024137" "50" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Pro88Ser)" "2" "0000467907" "00024137" "50" "-33" "-1361" "-33" "-1361" "c.-33-1361G>A" "r.(?)" "p.(=)" "1i" "0000467908" "00024137" "50" "-1581" "0" "-1581" "0" "c.-1581A>C" "r.(=)" "p.(=)" "_1" "0000467909" "00024137" "90" "-61" "0" "-61" "0" "c.-61A>G" "r.(?)" "p.(=)" "1" "0000467910" "00024137" "90" "-175" "0" "-175" "0" "c.-175G>A" "r.(=)" "p.(=)" "_1" "0000503028" "00024137" "50" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Arg332His)" "" "0000503029" "00024137" "30" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(His244Tyr)" "" "0000503030" "00024137" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Arg242=)" "" "0000503031" "00024137" "50" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Val169CysfsTer54)" "" "0000503032" "00024137" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Tyr123=)" "" "0000503033" "00024137" "50" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "" "0000503034" "00024137" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Leu)" "" "0000604774" "00024137" "50" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Pro265Ser)" "" "0000675458" "00024137" "50" "763" "0" "763" "0" "c.763G>T" "r.(?)" "p.(Val255Leu)" "" "0000687859" "00024137" "50" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" "" "0000716776" "00024137" "50" "494" "0" "494" "0" "c.494T>C" "r.(?)" "p.(Val165Ala)" "" "0000798760" "00024137" "50" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "" "0000848286" "00024137" "50" "722" "0" "722" "0" "c.722C>G" "r.(?)" "p.(Pro241Arg)" "" "0000856951" "00024137" "50" "497" "0" "497" "0" "c.497del" "r.(?)" "p.(Gly166Alafs*14)" "" "0000882752" "00024137" "50" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Arg342Gln)" "" "0000882753" "00024137" "50" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(Tyr123*)" "" "0000882754" "00024137" "30" "13" "0" "13" "0" "c.13A>G" "r.(?)" "p.(Ser5Gly)" "" "0001024022" "00024137" "50" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Ser218Ala)" "" "0001031233" "00024137" "50" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "" "0001063134" "00024137" "50" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000050432" "0000079664" "0000050515" "0000079495" "0000065287" "0000096961" "0000227655" "0000467873" "0000227656" "0000467874" "0000227657" "0000467875" "0000227658" "0000467876" "0000227659" "0000467877" "0000227660" "0000467878" "0000227661" "0000467879" "0000227662" "0000467880" "0000227663" "0000467881" "0000227664" "0000467882" "0000227664" "0000467883" "0000227665" "0000467884" "0000227665" "0000467885" "0000227665" "0000467886" "0000227665" "0000467887" "0000227666" "0000467888" "0000227666" "0000467889" "0000227666" "0000467890" "0000227666" "0000467891" "0000227667" "0000467892" "0000227667" "0000467893" "0000227668" "0000467894" "0000227668" "0000467895" "0000227669" "0000467896" "0000227669" "0000467897" "0000227669" "0000467898" "0000227669" "0000467899" "0000227670" "0000467900" "0000227670" "0000467901" "0000227671" "0000467902" "0000227672" "0000467903" "0000227673" "0000467904" "0000227674" "0000467905"