### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN7A) # 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}}" "SCN7A" "sodium channel, voltage gated, type VII alpha subunit" "2" "q21-q23" "unknown" "NG_031928.1" "UD_142709218986" "" "http://www.LOVD.nl/SNC7A" "" "1" "10594" "6332" "182392" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2015-09-27 11:53:03" "" "" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024060" "SCN7A" "transcript variant 1" "005" "NM_002976.3" "" "NP_002967.2" "" "" "" "-130" "7056" "5049" "166486971" "166403573" "00006" "2015-09-27 11:53:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00050245" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00292344" "" "" "" "89" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292345" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304708" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374137" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050245" "00198" "00292344" "00198" "00292345" "00198" "00304708" "00198" "00374137" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 2 "{{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}}" "0000036857" "00198" "00050245" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000269348" "00198" "00374137" "00006" "Unknown" "<0d" "22w-fetus, ultrasound Holoprosencephaly; autopsy intrauterine growth retardation, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, hypoplastic phalanges," "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050190" "00050245" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000293512" "00292344" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293513" "00292345" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305837" "00304708" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375330" "00374137" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000050190" "SCN7A" "0000375330" "SCN7A" ## 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 = 132 "{{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}}" "0000079142" "3" "90" "2" "167266447" "167266447" "subst" "0.0109956" "00006" "SCN7A_000001" "g.167266447T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.166409937T>C" "" "pathogenic" "" "0000510066" "0" "30" "2" "167262274" "167262274" "subst" "0.00155782" "02327" "SCN7A_000002" "g.167262274C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166405764C>T" "" "likely benign" "" "0000510067" "0" "30" "2" "167266422" "167266422" "subst" "0.000686376" "02327" "SCN7A_000003" "g.167266422A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166409912A>G" "" "likely benign" "" "0000510068" "0" "50" "2" "167284356" "167284356" "subst" "0.000274273" "02327" "SCN7A_000004" "g.167284356T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166427846T>G" "" "VUS" "" "0000510069" "0" "30" "2" "167288879" "167288879" "subst" "0.000738902" "02327" "SCN7A_000005" "g.167288879A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166432369A>G" "" "likely benign" "" "0000510070" "0" "50" "2" "167289164" "167289164" "del" "0" "02327" "SCN7A_000006" "g.167289164del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166432654del" "" "VUS" "" "0000510071" "0" "30" "2" "167298093" "167298093" "subst" "0.00196921" "02327" "SCN7A_000007" "g.167298093A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166441583A>G" "" "likely benign" "" "0000510072" "0" "30" "2" "167304142" "167304142" "subst" "0.000903438" "02327" "SCN7A_000008" "g.167304142G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166447632G>C" "" "likely benign" "" "0000510073" "0" "30" "2" "167304168" "167304168" "subst" "0" "01943" "SCN7A_000009" "g.167304168G>A" "" "" "" "SCN7A(NM_002976.3):c.1341C>T (p.D447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166447658G>A" "" "likely benign" "" "0000510074" "0" "30" "2" "167313422" "167313422" "subst" "5.5143E-5" "01943" "SCN7A_000010" "g.167313422T>C" "" "" "" "SCN7A(NM_002976.3):c.1248A>G (p.Q416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166456912T>C" "" "likely benign" "" "0000510075" "0" "30" "2" "167318979" "167318979" "subst" "9.77406E-5" "02327" "SCN7A_000011" "g.167318979T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166462469T>C" "" "likely benign" "" "0000510076" "0" "30" "2" "167330788" "167330788" "subst" "0.000398631" "02327" "SCN7A_000012" "g.167330788A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166474278A>T" "" "likely benign" "" "0000606254" "0" "10" "2" "167262592" "167262592" "subst" "0.00381099" "02327" "SCN7A_000013" "g.167262592C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166406082C>T" "" "benign" "" "0000606255" "0" "30" "2" "167262780" "167262780" "subst" "0.000370881" "02327" "SCN7A_000014" "g.167262780A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166406270A>C" "" "likely benign" "" "0000606256" "0" "30" "2" "167262799" "167262799" "subst" "0.000126318" "02327" "SCN7A_000015" "g.167262799T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166406289T>G" "" "likely benign" "" "0000606257" "0" "30" "2" "167262869" "167262869" "subst" "1.22477E-5" "02327" "SCN7A_000016" "g.167262869T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166406359T>C" "" "likely benign" "" "0000606258" "0" "30" "2" "167263146" "167263146" "subst" "3.02936E-5" "02327" "SCN7A_000017" "g.167263146C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166406636C>A" "" "likely benign" "" "0000606259" "0" "10" "2" "167263155" "167263155" "subst" "0.00978011" "02327" "SCN7A_000018" "g.167263155T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166406645T>A" "" "benign" "" "0000606260" "0" "30" "2" "167266218" "167266218" "subst" "0.00175079" "02327" "SCN7A_000019" "g.167266218C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166409708C>T" "" "likely benign" "" "0000606261" "0" "50" "2" "167266302" "167266302" "subst" "0.000766115" "02327" "SCN7A_000020" "g.167266302C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166409792C>A" "" "VUS" "" "0000606262" "0" "10" "2" "167266344" "167266344" "subst" "0.0111034" "02327" "SCN7A_000021" "g.167266344G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166409834G>A" "" "benign" "" "0000606263" "0" "30" "2" "167266457" "167266457" "subst" "0" "02327" "SCN7A_000022" "g.167266457A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166409947A>G" "" "likely benign" "" "0000606264" "0" "50" "2" "167266831" "167266831" "subst" "0.000199632" "02327" "SCN7A_000023" "g.167266831C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166410321C>T" "" "VUS" "" "0000606266" "0" "30" "2" "167269648" "167269648" "subst" "0.00101806" "02327" "SCN7A_000025" "g.167269648C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166413138C>T" "" "likely benign" "" "0000606267" "0" "30" "2" "167277776" "167277776" "subst" "0.000135953" "02327" "SCN7A_000026" "g.167277776C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166421266C>T" "" "likely benign" "" "0000606268" "0" "10" "2" "167277816" "167277816" "subst" "0.002475" "02327" "SCN7A_000027" "g.167277816T>A" "" "" "" "SCN7A(NM_002976.4):c.3028-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166421306T>A" "" "benign" "" "0000606269" "0" "30" "2" "167279762" "167279762" "subst" "0.00181764" "02327" "SCN7A_000028" "g.167279762T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166423252T>C" "" "likely benign" "" "0000606270" "0" "50" "2" "167279929" "167279929" "subst" "0.000762663" "02327" "SCN7A_000029" "g.167279929A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166423419A>G" "" "VUS" "" "0000606271" "0" "30" "2" "167284431" "167284431" "subst" "4.07924E-6" "02327" "SCN7A_000030" "g.167284431A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166427921A>G" "" "likely benign" "" "0000606272" "0" "30" "2" "167288966" "167288966" "subst" "1.21979E-5" "02327" "SCN7A_000031" "g.167288966A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166432456A>G" "" "likely benign" "" "0000606273" "0" "10" "2" "167289012" "167289012" "subst" "0.00379182" "02327" "SCN7A_000032" "g.167289012T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166432502T>A" "" "benign" "" "0000606274" "0" "30" "2" "167298015" "167298015" "subst" "0.0054007" "02327" "SCN7A_000033" "g.167298015C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166441505C>T" "" "likely benign" "" "0000606275" "0" "50" "2" "167298016" "167298016" "subst" "0.000122002" "02327" "SCN7A_000034" "g.167298016G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166441506G>A" "" "VUS" "" "0000606276" "0" "30" "2" "167298067" "167298067" "subst" "0" "02327" "SCN7A_000035" "g.167298067G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166441557G>C" "" "likely benign" "" "0000606277" "0" "30" "2" "167300015" "167300015" "subst" "0.00290119" "02327" "SCN7A_000036" "g.167300015T>A" "" "" "" "SCN7A(NM_002976.4):c.1798A>T (p.(Met600Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166443505T>A" "" "likely benign" "" "0000606278" "0" "10" "2" "167300128" "167300128" "subst" "0.00739732" "02327" "SCN7A_000037" "g.167300128T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166443618T>C" "" "benign" "" "0000606279" "0" "30" "2" "167301397" "167301397" "subst" "0" "02327" "SCN7A_000038" "g.167301397T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166444887T>G" "" "likely benign" "" "0000606280" "0" "30" "2" "167301500" "167301500" "subst" "0.000972178" "02327" "SCN7A_000039" "g.167301500T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166444990T>C" "" "likely benign" "" "0000606281" "0" "30" "2" "167304161" "167304161" "subst" "2.03398E-5" "02327" "SCN7A_000040" "g.167304161A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166447651A>G" "" "likely benign" "" "0000606282" "0" "30" "2" "167318913" "167318913" "subst" "0.00063369" "02327" "SCN7A_000041" "g.167318913C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166462403C>T" "" "likely benign" "" "0000606283" "0" "50" "2" "167318936" "167318936" "subst" "0" "02327" "SCN7A_000042" "g.167318936A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166462426A>T" "" "VUS" "" "0000606284" "0" "50" "2" "167318939" "167318939" "subst" "2.98111E-5" "02327" "SCN7A_000043" "g.167318939C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166462429C>T" "" "VUS" "" "0000606285" "0" "30" "2" "167322060" "167322060" "subst" "5.28357E-6" "02327" "SCN7A_000044" "g.167322060A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166465550A>G" "" "likely benign" "" "0000606286" "0" "30" "2" "167327177" "167327177" "subst" "8.62175E-5" "02327" "SCN7A_000045" "g.167327177C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166470667C>T" "" "likely benign" "" "0000606288" "0" "30" "2" "167330730" "167330730" "subst" "1.61031E-5" "02327" "SCN7A_000047" "g.167330730G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166474220G>T" "" "likely benign" "" "0000606289" "0" "30" "2" "167330770" "167330770" "subst" "0.000490684" "02327" "SCN7A_000048" "g.167330770T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166474260T>C" "" "likely benign" "" "0000606290" "0" "50" "2" "167334065" "167334065" "del" "0" "02327" "SCN7A_000049" "g.167334065del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.166477555del" "" "VUS" "" "0000650201" "1" "10" "2" "167298015" "167298015" "subst" "0.0054007" "03575" "SCN7A_000033" "g.167298015C>T" "89/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "89 heterozygous; {DB:CLININrs116825611}" "Germline" "" "rs116825611" "0" "" "" "g.166441505C>T" "" "benign" "" "0000650202" "1" "10" "2" "167300128" "167300128" "subst" "0.00739732" "03575" "SCN7A_000037" "g.167300128T>C" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs143491867}" "Germline" "" "rs143491867" "0" "" "" "g.166443618T>C" "" "benign" "" "0000669525" "3" "10" "2" "167298015" "167298015" "subst" "0.0054007" "03575" "SCN7A_000033" "g.167298015C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs116825611}" "Germline" "" "rs116825611" "0" "" "" "g.166441505C>T" "" "benign" "" "0000688379" "0" "10" "2" "167262897" "167262897" "subst" "0.000911186" "02327" "SCN7A_000050" "g.167262897C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688380" "0" "30" "2" "167266808" "167266808" "subst" "6.56918E-5" "02327" "SCN7A_000051" "g.167266808C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688381" "0" "30" "2" "167301359" "167301359" "subst" "0.00121954" "02327" "SCN7A_000052" "g.167301359T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717966" "0" "50" "2" "167266241" "167266241" "subst" "2.58833E-5" "02327" "SCN7A_000053" "g.167266241G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717967" "0" "50" "2" "167269092" "167269095" "del" "5.42711E-5" "02329" "SCN7A_000024" "g.167269092_167269095del" "" "" "" "SCN7A(NM_002976.4):c.3551_3554delCTCT (p.P1184Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717968" "0" "30" "2" "167289216" "167289216" "subst" "0.00176133" "02327" "SCN7A_000054" "g.167289216T>C" "" "" "" "SCN7A(NM_002976.4):c.2204A>G (p.(Lys735Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717969" "0" "30" "2" "167328871" "167328871" "subst" "0.00104189" "02327" "SCN7A_000055" "g.167328871G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786671" "1" "70" "2" "167297982" "167297982" "subst" "0" "00006" "SCN7A_000056" "g.167297982C>T" "" "{PMID:Lefebvre 2021:32732226}" "" "" "concordant segregation, functional data: increased and persistent expression of SCN7A in the epileptic rat and human hippocampus" "Germline" "" "" "0" "" "" "g.166441472C>T" "" "likely pathogenic" "" "0000786683" "2" "70" "2" "167322357" "167322357" "subst" "8.13478E-6" "00006" "SCN7A_000057" "g.167322357G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "concordant segregation, functional data: increased and persistent expression of SCN7A in the epileptic rat and human hippocampus" "Germline" "" "" "0" "" "" "g.166465847G>A" "" "likely pathogenic" "" "0000799790" "0" "30" "2" "167262143" "167262143" "subst" "0.000405431" "02327" "SCN7A_000058" "g.167262143C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799791" "0" "30" "2" "167266247" "167266247" "subst" "4.44399E-5" "02327" "SCN7A_000059" "g.167266247C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799792" "0" "50" "2" "167269585" "167269585" "subst" "9.4437E-5" "02327" "SCN7A_000060" "g.167269585G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799793" "0" "30" "2" "167273388" "167273388" "subst" "4.07727E-6" "02327" "SCN7A_000061" "g.167273388A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799794" "0" "30" "2" "167277707" "167277707" "subst" "0" "02327" "SCN7A_000062" "g.167277707C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799795" "0" "30" "2" "167288968" "167288968" "subst" "0.000516437" "02327" "SCN7A_000063" "g.167288968C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799796" "0" "30" "2" "167301491" "167301491" "subst" "4.1056E-6" "02327" "SCN7A_000064" "g.167301491C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799797" "0" "30" "2" "167313417" "167313417" "subst" "1.25214E-5" "02327" "SCN7A_000065" "g.167313417G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799798" "0" "30" "2" "167322302" "167322302" "subst" "1.62648E-5" "02327" "SCN7A_000066" "g.167322302T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799799" "0" "50" "2" "167328867" "167328867" "subst" "0" "02327" "SCN7A_000067" "g.167328867C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849047" "0" "30" "2" "167262211" "167262211" "subst" "0.000220203" "02327" "SCN7A_000068" "g.167262211C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849048" "0" "50" "2" "167262413" "167262413" "subst" "2.44604E-5" "02327" "SCN7A_000069" "g.167262413C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849049" "0" "30" "2" "167262804" "167262804" "subst" "1.63034E-5" "02327" "SCN7A_000072" "g.167262804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849050" "0" "50" "2" "167266352" "167266352" "subst" "1.09056E-5" "02327" "SCN7A_000073" "g.167266352T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849051" "0" "10" "2" "167284441" "167284441" "subst" "0.000820676" "02327" "SCN7A_000076" "g.167284441C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849052" "0" "30" "2" "167288989" "167288989" "subst" "0.00019522" "02327" "SCN7A_000078" "g.167288989T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849053" "0" "50" "2" "167298021" "167298021" "subst" "6.91197E-5" "02327" "SCN7A_000079" "g.167298021A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849054" "0" "30" "2" "167301285" "167301285" "subst" "0.0014268" "02327" "SCN7A_000080" "g.167301285T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849055" "0" "30" "2" "167313374" "167313374" "subst" "0" "02327" "SCN7A_000082" "g.167313374A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849056" "0" "30" "2" "167322421" "167322421" "subst" "1.22225E-5" "02327" "SCN7A_000083" "g.167322421A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849057" "0" "30" "2" "167327178" "167327178" "subst" "2.87337E-5" "02327" "SCN7A_000084" "g.167327178G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849058" "0" "50" "2" "167330808" "167330808" "subst" "4.84469E-5" "02327" "SCN7A_000086" "g.167330808G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857841" "0" "30" "2" "167262510" "167262510" "subst" "0" "02327" "SCN7A_000070" "g.167262510A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857842" "0" "50" "2" "167262665" "167262665" "subst" "0" "02327" "SCN7A_000071" "g.167262665T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857843" "0" "50" "2" "167266777" "167266777" "subst" "0" "02327" "SCN7A_000074" "g.167266777T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857844" "0" "30" "2" "167277797" "167277797" "subst" "0" "02327" "SCN7A_000075" "g.167277797A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857845" "0" "30" "2" "167285773" "167285773" "subst" "0" "02327" "SCN7A_000077" "g.167285773T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857846" "0" "30" "2" "167304135" "167304135" "subst" "0" "02327" "SCN7A_000081" "g.167304135G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857847" "0" "30" "2" "167328841" "167328841" "subst" "0.000142662" "02327" "SCN7A_000085" "g.167328841G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883893" "0" "50" "2" "167262286" "167262286" "subst" "0" "02327" "SCN7A_000087" "g.167262286G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883894" "0" "50" "2" "167262671" "167262671" "subst" "0" "02327" "SCN7A_000088" "g.167262671T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883895" "0" "50" "2" "167263066" "167263066" "subst" "3.26296E-5" "02327" "SCN7A_000089" "g.167263066C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883896" "0" "30" "2" "167273292" "167273292" "subst" "0.000481755" "02327" "SCN7A_000090" "g.167273292G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883897" "0" "30" "2" "167273315" "167273315" "subst" "2.44405E-5" "02327" "SCN7A_000091" "g.167273315G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883898" "0" "30" "2" "167288918" "167288918" "subst" "0" "02327" "SCN7A_000092" "g.167288918T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883899" "0" "30" "2" "167289266" "167289266" "subst" "0" "02327" "SCN7A_000093" "g.167289266A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883900" "0" "30" "2" "167298068" "167298068" "subst" "0.00019519" "02327" "SCN7A_000094" "g.167298068T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883901" "0" "30" "2" "167298131" "167298131" "subst" "0.000556246" "02327" "SCN7A_000095" "g.167298131G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883902" "0" "30" "2" "167301419" "167301419" "subst" "4.07143E-6" "02327" "SCN7A_000096" "g.167301419T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883903" "0" "30" "2" "167322455" "167322455" "subst" "0.0025524" "02327" "SCN7A_000097" "g.167322455T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911238" "0" "30" "2" "167266811" "167266811" "subst" "0.000359281" "02327" "SCN7A_000098" "g.167266811T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911239" "0" "50" "2" "167304145" "167304145" "subst" "0" "02327" "SCN7A_000099" "g.167304145T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923340" "0" "30" "2" "167262180" "167262180" "subst" "0.000440141" "02327" "SCN7A_000100" "g.167262180C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923341" "0" "30" "2" "167330775" "167330775" "subst" "0" "02327" "SCN7A_000101" "g.167330775T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928309" "0" "10" "2" "167266447" "167266447" "subst" "0.0109956" "02327" "SCN7A_000001" "g.167266447T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928310" "0" "50" "2" "167322405" "167322405" "subst" "0.000150601" "02327" "SCN7A_000102" "g.167322405G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947403" "0" "50" "2" "167263085" "167263085" "subst" "0.000130804" "02327" "SCN7A_000103" "g.167263085G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947404" "0" "30" "2" "167284457" "167284457" "subst" "0" "02327" "SCN7A_000104" "g.167284457C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947405" "0" "50" "2" "167289249" "167289249" "subst" "0" "02327" "SCN7A_000105" "g.167289249A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947406" "0" "30" "2" "167298133" "167298133" "subst" "2.04409E-5" "02327" "SCN7A_000106" "g.167298133A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947407" "0" "50" "2" "167328840" "167328840" "subst" "0.000193193" "02327" "SCN7A_000107" "g.167328840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961420" "0" "30" "2" "167262543" "167262543" "subst" "0" "02327" "SCN7A_000108" "g.167262543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961421" "0" "10" "2" "167262918" "167262918" "subst" "0.00207199" "02327" "SCN7A_000109" "g.167262918T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961422" "0" "30" "2" "167266328" "167266328" "subst" "0" "02327" "SCN7A_000110" "g.167266328G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961423" "0" "30" "2" "167266370" "167266370" "subst" "5.01851E-5" "02327" "SCN7A_000111" "g.167266370A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961424" "0" "50" "2" "167300167" "167300167" "subst" "0" "02327" "SCN7A_000112" "g.167300167G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961425" "0" "30" "2" "167313422" "167313422" "subst" "5.5143E-5" "02327" "SCN7A_000010" "g.167313422T>C" "" "" "" "SCN7A(NM_002976.3):c.1248A>G (p.Q416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974431" "0" "30" "2" "167289216" "167289216" "subst" "0.00176133" "01804" "SCN7A_000054" "g.167289216T>C" "" "" "" "SCN7A(NM_002976.4):c.2204A>G (p.(Lys735Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974432" "0" "30" "2" "167297887" "167297887" "subst" "0.00111338" "02327" "SCN7A_000113" "g.167297887A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974433" "0" "30" "2" "167297891" "167297891" "subst" "5.6478E-5" "02327" "SCN7A_000114" "g.167297891G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974434" "0" "10" "2" "167300015" "167300015" "subst" "0.00290119" "01804" "SCN7A_000036" "g.167300015T>A" "" "" "" "SCN7A(NM_002976.4):c.1798A>T (p.(Met600Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991795" "0" "30" "2" "167288943" "167288943" "subst" "0.000191068" "01804" "SCN7A_000115" "g.167288943A>T" "" "" "" "SCN7A(NM_002976.3):c.2477T>A (p.(Leu826His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991796" "0" "30" "2" "167304192" "167304192" "subst" "3.66369E-5" "02327" "SCN7A_000116" "g.167304192C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991797" "0" "30" "2" "167322505" "167322505" "subst" "4.5772E-6" "02327" "SCN7A_000117" "g.167322505G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013407" "0" "30" "2" "167262746" "167262746" "subst" "4.89548E-5" "02327" "SCN7A_000118" "g.167262746C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013408" "0" "10" "2" "167266312" "167266312" "subst" "0.00316064" "02327" "SCN7A_000119" "g.167266312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013409" "0" "30" "2" "167273291" "167273291" "subst" "3.26629E-5" "02327" "SCN7A_000120" "g.167273291C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024257" "0" "50" "2" "167321979" "167321979" "subst" "0" "02327" "SCN7A_000121" "g.167321979C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024258" "0" "50" "2" "167327151" "167327151" "subst" "0" "02327" "SCN7A_000122" "g.167327151A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032492" "0" "30" "2" "167277816" "167277816" "subst" "0.002475" "01804" "SCN7A_000027" "g.167277816T>A" "" "" "" "SCN7A(NM_002976.4):c.3028-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032493" "0" "30" "2" "167284444" "167284444" "subst" "3.26664E-5" "02327" "SCN7A_000123" "g.167284444G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032494" "0" "50" "2" "167304209" "167304209" "subst" "7.32911E-5" "01804" "SCN7A_000124" "g.167304209T>C" "" "" "" "SCN7A(NM_002976.4):c.1300A>G (p.(Ile434Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045720" "0" "30" "2" "167263142" "167263142" "subst" "0" "02327" "SCN7A_000125" "g.167263142T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SCN7A ## Count = 132 "{{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}}" "0000079142" "00024060" "00" "3712" "-2" "3712" "-2" "c.3712-2A>G" "r.spl?" "p.?" "" "0000510066" "00024060" "30" "4865" "0" "4865" "0" "c.4865G>A" "r.(?)" "p.(Arg1622Gln)" "" "0000510067" "00024060" "30" "3735" "0" "3735" "0" "c.3735T>C" "r.(?)" "p.(Phe1245=)" "" "0000510068" "00024060" "50" "2795" "0" "2795" "0" "c.2795A>C" "r.(?)" "p.(Glu932Ala)" "" "0000510069" "00024060" "30" "2541" "0" "2541" "0" "c.2541T>C" "r.(?)" "p.(Asn847=)" "" "0000510070" "00024060" "50" "2257" "0" "2257" "0" "c.2257del" "r.(?)" "p.(Ala753GlnfsTer7)" "" "0000510071" "00024060" "30" "1970" "0" "1970" "0" "c.1970T>C" "r.(?)" "p.(Val657Ala)" "" "0000510072" "00024060" "30" "1367" "0" "1367" "0" "c.1367C>G" "r.(?)" "p.(Ala456Gly)" "" "0000510073" "00024060" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Asp447=)" "" "0000510074" "00024060" "30" "1248" "0" "1248" "0" "c.1248A>G" "r.(?)" "p.(Gln416=)" "" "0000510075" "00024060" "30" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Asn335Asp)" "" "0000510076" "00024060" "30" "301" "0" "301" "0" "c.301T>A" "r.(?)" "p.(Leu101Met)" "" "0000606254" "00024060" "10" "4547" "0" "4547" "0" "c.4547G>A" "r.(?)" "p.(Arg1516Lys)" "" "0000606255" "00024060" "30" "4359" "0" "4359" "0" "c.4359T>G" "r.(?)" "p.(Pro1453=)" "" "0000606256" "00024060" "30" "4340" "0" "4340" "0" "c.4340A>C" "r.(?)" "p.(Lys1447Thr)" "" "0000606257" "00024060" "30" "4270" "0" "4270" "0" "c.4270A>G" "r.(?)" "p.(Met1424Val)" "" "0000606258" "00024060" "30" "3993" "0" "3993" "0" "c.3993G>T" "r.(?)" "p.(Leu1331=)" "" "0000606259" "00024060" "10" "3984" "0" "3984" "0" "c.3984A>T" "r.(?)" "p.(Gly1328=)" "" "0000606260" "00024060" "30" "3939" "0" "3939" "0" "c.3939G>A" "r.(?)" "p.(Ala1313=)" "" "0000606261" "00024060" "50" "3855" "0" "3855" "0" "c.3855G>T" "r.(?)" "p.(Trp1285Cys)" "" "0000606262" "00024060" "10" "3813" "0" "3813" "0" "c.3813C>T" "r.(?)" "p.(Asp1271=)" "" "0000606263" "00024060" "30" "3712" "-12" "3712" "-12" "c.3712-12T>C" "r.(=)" "p.(=)" "" "0000606264" "00024060" "50" "3610" "0" "3610" "0" "c.3610G>A" "r.(?)" "p.(Gly1204Arg)" "" "0000606266" "00024060" "30" "3415" "-17" "3415" "-17" "c.3415-17G>A" "r.(=)" "p.(=)" "" "0000606267" "00024060" "30" "3059" "0" "3059" "0" "c.3059G>A" "r.(?)" "p.(Arg1020Gln)" "" "0000606268" "00024060" "10" "3028" "-9" "3028" "-9" "c.3028-9A>T" "r.(=)" "p.(=)" "" "0000606269" "00024060" "30" "3027" "7" "3027" "7" "c.3027+7A>G" "r.(=)" "p.(=)" "" "0000606270" "00024060" "50" "2867" "0" "2867" "0" "c.2867T>C" "r.(?)" "p.(Ile956Thr)" "" "0000606271" "00024060" "30" "2720" "0" "2720" "0" "c.2720T>C" "r.(?)" "p.(Leu907Pro)" "" "0000606272" "00024060" "30" "2454" "0" "2454" "0" "c.2454T>C" "r.(?)" "p.(Ala818=)" "" "0000606273" "00024060" "10" "2408" "0" "2408" "0" "c.2408A>T" "r.(?)" "p.(Asp803Val)" "" "0000606274" "00024060" "30" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000606275" "00024060" "50" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Ter)" "" "0000606276" "00024060" "30" "1996" "0" "1996" "0" "c.1996C>G" "r.(?)" "p.(Leu666Val)" "" "0000606277" "00024060" "30" "1798" "0" "1798" "0" "c.1798A>T" "r.(?)" "p.(Met600Leu)" "" "0000606278" "00024060" "10" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(Tyr562Cys)" "" "0000606279" "00024060" "30" "1501" "0" "1501" "0" "c.1501A>C" "r.(?)" "p.(Ile501Leu)" "" "0000606280" "00024060" "30" "1398" "0" "1398" "0" "c.1398A>G" "r.(?)" "p.(Lys466=)" "" "0000606281" "00024060" "30" "1348" "0" "1348" "0" "c.1348T>C" "r.(?)" "p.(Leu450=)" "" "0000606282" "00024060" "30" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Val357Ile)" "" "0000606283" "00024060" "50" "1046" "0" "1046" "0" "c.1046T>A" "r.(?)" "p.(Leu349Ter)" "" "0000606284" "00024060" "50" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Arg348Gln)" "" "0000606285" "00024060" "30" "872" "-19" "872" "-19" "c.872-19T>C" "r.(=)" "p.(=)" "" "0000606286" "00024060" "30" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Thr204=)" "" "0000606288" "00024060" "30" "353" "6" "353" "6" "c.353+6C>A" "r.(=)" "p.(=)" "" "0000606289" "00024060" "30" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Ile107Val)" "" "0000606290" "00024060" "50" "146" "0" "146" "0" "c.146del" "r.(?)" "p.(Lys49SerfsTer33)" "" "0000650201" "00024060" "10" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000650202" "00024060" "10" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(Tyr562Cys)" "" "0000669525" "00024060" "10" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683Gln)" "" "0000688379" "00024060" "10" "4242" "0" "4242" "0" "c.4242G>A" "r.(?)" "p.(Val1414=)" "" "0000688380" "00024060" "30" "3633" "0" "3633" "0" "c.3633G>A" "r.(?)" "p.(Thr1211=)" "" "0000688381" "00024060" "30" "1539" "0" "1539" "0" "c.1539A>G" "r.(?)" "p.(Ile513Met)" "" "0000717966" "00024060" "50" "3916" "0" "3916" "0" "c.3916C>T" "r.(?)" "p.(Arg1306Cys)" "" "0000717967" "00024060" "50" "3551" "0" "3554" "0" "c.3551_3554del" "r.(?)" "p.(Pro1184ArgfsTer4)" "" "0000717968" "00024060" "30" "2204" "0" "2204" "0" "c.2204A>G" "r.(?)" "p.(Lys735Arg)" "" "0000717969" "00024060" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(Leu176=)" "" "0000786671" "00024060" "70" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Trp694Ter)" "" "0000786683" "00024060" "70" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "" "0000799790" "00024060" "30" "4996" "0" "4996" "0" "c.4996G>A" "r.(?)" "p.(Gly1666Ser)" "" "0000799791" "00024060" "30" "3910" "0" "3910" "0" "c.3910G>A" "r.(?)" "p.(Ala1304Thr)" "" "0000799792" "00024060" "50" "3461" "0" "3461" "0" "c.3461C>A" "r.(?)" "p.(Ser1154Tyr)" "" "0000799793" "00024060" "30" "3243" "0" "3243" "0" "c.3243T>C" "r.(?)" "p.(Ala1081=)" "" "0000799794" "00024060" "30" "3128" "0" "3128" "0" "c.3128G>A" "r.(?)" "p.(Arg1043Lys)" "" "0000799795" "00024060" "30" "2452" "0" "2452" "0" "c.2452G>T" "r.(?)" "p.(Ala818Ser)" "" "0000799796" "00024060" "30" "1407" "0" "1407" "0" "c.1407G>A" "r.(?)" "p.(Lys469=)" "" "0000799797" "00024060" "30" "1253" "0" "1253" "0" "c.1253C>A" "r.(?)" "p.(Thr418Asn)" "" "0000799798" "00024060" "30" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Tyr287Cys)" "" "0000799799" "00024060" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Asp178Asn)" "" "0000849047" "00024060" "30" "4928" "0" "4928" "0" "c.4928G>A" "r.(?)" "p.(Arg1643Gln)" "" "0000849048" "00024060" "50" "4726" "0" "4726" "0" "c.4726G>A" "r.(?)" "p.(Asp1576Asn)" "" "0000849049" "00024060" "30" "4335" "0" "4335" "0" "c.4335C>T" "r.(?)" "p.(Asn1445=)" "" "0000849050" "00024060" "50" "3805" "0" "3805" "0" "c.3805A>G" "r.(?)" "p.(Met1269Val)" "" "0000849051" "00024060" "10" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Gly904Arg)" "" "0000849052" "00024060" "30" "2431" "0" "2431" "0" "c.2431A>G" "r.(?)" "p.(Ser811Gly)" "" "0000849053" "00024060" "50" "2042" "0" "2042" "0" "c.2042T>C" "r.(?)" "p.(Val681Ala)" "" "0000849054" "00024060" "30" "1613" "0" "1613" "0" "c.1613A>G" "r.(?)" "p.(Asn538Ser)" "" "0000849055" "00024060" "30" "1290" "6" "1290" "6" "c.1290+6T>C" "r.(=)" "p.(=)" "" "0000849056" "00024060" "30" "741" "0" "741" "0" "c.741T>C" "r.(?)" "p.(Phe247=)" "" "0000849057" "00024060" "30" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Thr204Met)" "" "0000849058" "00024060" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Ala94Val)" "" "0000857841" "00024060" "30" "4629" "0" "4629" "0" "c.4629T>A" "r.(?)" "p.(Ala1543=)" "" "0000857842" "00024060" "50" "4474" "0" "4474" "0" "c.4474A>G" "r.(?)" "p.(Ile1492Val)" "" "0000857843" "00024060" "50" "3664" "0" "3664" "0" "c.3664A>T" "r.(?)" "p.(Lys1222*)" "" "0000857844" "00024060" "30" "3038" "0" "3038" "0" "c.3038T>G" "r.(?)" "p.(Leu1013Arg)" "" "0000857845" "00024060" "30" "2604" "0" "2604" "0" "c.2604A>G" "r.(?)" "p.(Gln868=)" "" "0000857846" "00024060" "30" "1374" "0" "1374" "0" "c.1374C>T" "r.(?)" "p.(Leu458=)" "" "0000857847" "00024060" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ser186=)" "" "0000883893" "00024060" "50" "4853" "0" "4853" "0" "c.4853C>A" "r.(?)" "p.(Thr1618Asn)" "" "0000883894" "00024060" "50" "4468" "0" "4468" "0" "c.4468A>G" "r.(?)" "p.(Met1490Val)" "" "0000883895" "00024060" "50" "4073" "0" "4073" "0" "c.4073G>A" "r.(?)" "p.(Arg1358His)" "" "0000883896" "00024060" "30" "3339" "0" "3339" "0" "c.3339C>T" "r.(?)" "p.(Asn1113=)" "" "0000883897" "00024060" "30" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106Trp)" "" "0000883898" "00024060" "30" "2502" "0" "2502" "0" "c.2502A>T" "r.(?)" "p.(Glu834Asp)" "" "0000883899" "00024060" "30" "2158" "-4" "2158" "-4" "c.2158-4T>G" "r.spl?" "p.?" "" "0000883900" "00024060" "30" "1995" "0" "1995" "0" "c.1995A>G" "r.(?)" "p.(Gln665=)" "" "0000883901" "00024060" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Phe644=)" "" "0000883902" "00024060" "30" "1479" "0" "1479" "0" "c.1479A>G" "r.(?)" "p.(Lys493=)" "" "0000883903" "00024060" "30" "707" "0" "707" "0" "c.707A>C" "r.(?)" "p.(Gln236Pro)" "" "0000911238" "00024060" "30" "3630" "0" "3630" "0" "c.3630A>G" "r.(?)" "p.(Ile1210Met)" "" "0000911239" "00024060" "50" "1364" "0" "1364" "0" "c.1364A>G" "r.(?)" "p.(Asp455Gly)" "" "0000923340" "00024060" "30" "4959" "0" "4959" "0" "c.4959G>C" "r.(?)" "p.(Met1653Ile)" "" "0000923341" "00024060" "30" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Asn105Ser)" "" "0000928309" "00024060" "10" "3712" "-2" "3712" "-2" "c.3712-2A>G" "r.spl?" "p.?" "" "0000928310" "00024060" "50" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Leu253Val)" "" "0000947403" "00024060" "50" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Arg1352Trp)" "" "0000947404" "00024060" "30" "2699" "-5" "2699" "-5" "c.2699-5G>A" "r.spl?" "p.?" "" "0000947405" "00024060" "50" "2171" "0" "2171" "0" "c.2171T>G" "r.(?)" "p.(Phe724Cys)" "" "0000947406" "00024060" "30" "1930" "0" "1930" "0" "c.1930T>A" "r.(?)" "p.(Phe644Ile)" "" "0000947407" "00024060" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "" "0000961420" "00024060" "30" "4596" "0" "4596" "0" "c.4596C>T" "r.(?)" "p.(=)" "" "0000961421" "00024060" "10" "4221" "0" "4221" "0" "c.4221A>G" "r.(?)" "p.(=)" "" "0000961422" "00024060" "30" "3829" "0" "3829" "0" "c.3829C>A" "r.(?)" "p.(Leu1277Ile)" "" "0000961423" "00024060" "30" "3787" "0" "3787" "0" "c.3787T>C" "r.(?)" "p.(Phe1263Leu)" "" "0000961424" "00024060" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Thr549Ile)" "" "0000961425" "00024060" "30" "1248" "0" "1248" "0" "c.1248A>G" "r.(?)" "p.(Gln416=)" "" "0000974431" "00024060" "30" "2204" "0" "2204" "0" "c.2204A>G" "r.(?)" "p.(Lys735Arg)" "" "0000974432" "00024060" "30" "2157" "19" "2157" "19" "c.2157+19T>C" "r.(=)" "p.(=)" "" "0000974433" "00024060" "30" "2157" "15" "2157" "15" "c.2157+15C>A" "r.(=)" "p.(=)" "" "0000974434" "00024060" "10" "1798" "0" "1798" "0" "c.1798A>T" "r.(?)" "p.(Met600Leu)" "" "0000991795" "00024060" "30" "2477" "0" "2477" "0" "c.2477T>A" "r.(?)" "p.(Leu826His)" "" "0000991796" "00024060" "30" "1317" "0" "1317" "0" "c.1317G>C" "r.(?)" "p.(Lys439Asn)" "" "0000991797" "00024060" "30" "665" "-8" "665" "-8" "c.665-8C>T" "r.(=)" "p.(=)" "" "0001013407" "00024060" "30" "4393" "0" "4393" "0" "c.4393G>A" "r.(?)" "p.(Asp1465Asn)" "" "0001013408" "00024060" "10" "3845" "0" "3845" "0" "c.3845C>T" "r.(?)" "p.(Ala1282Val)" "" "0001013409" "00024060" "30" "3340" "0" "3340" "0" "c.3340G>A" "r.(?)" "p.(Glu1114Lys)" "" "0001024257" "00024060" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Asp312Asn)" "" "0001024258" "00024060" "50" "638" "0" "638" "0" "c.638T>G" "r.(?)" "p.(Ile213Ser)" "" "0001032492" "00024060" "30" "3028" "-9" "3028" "-9" "c.3028-9A>T" "r.(=)" "p.(=)" "" "0001032493" "00024060" "30" "2707" "0" "2707" "0" "c.2707C>T" "r.(?)" "p.(Arg903Cys)" "" "0001032494" "00024060" "50" "1300" "0" "1300" "0" "c.1300A>G" "r.(?)" "p.(Ile434Val)" "" "0001045720" "00024060" "30" "3997" "0" "3997" "0" "c.3997A>G" "r.(?)" "p.(Met1333Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050190" "0000079142" "0000293512" "0000650201" "0000293513" "0000650202" "0000305837" "0000669525" "0000375330" "0000786671" "0000375330" "0000786683"