Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38587366dup | CA2319558 | SCN5A | c.2436+39dup (n.2436+39dup) c.2307+39dup (n.2307+39dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38587366del | CA2539576636 | SCN5A | c.2436+39del (n.2436+39del) c.2307+39del (n.2307+39del) | gnomAD v4 |
3 | g.38587364_38587366del | CA060427 | SCN5A | c.2436+37_2436+39del (n.2436+37_2436+39del) c.2307+37_2307+39del (n.2307+37_2307+39del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587368_38587377del | CA2665113998 | SCN5A | c.2436+29_2436+38del (n.2436+29_2436+38del) c.2307+29_2307+38del (n.2307+29_2307+38del) | gnomAD v4 |
3 | g.38587365C>A | CA542615724 | SCN5A | c.2436+35G>T (n.2436+35G>T) c.2307+35G>T (n.2307+35G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587365C= | CA1358578113 | SCN5A | c.2436+35G= (n.2436+35G=) c.2307+35G= (n.2307+35G=) | |
3 | g.38587365C>T | CA2577676497 | SCN5A | c.2436+35G>A (n.2436+35G>A) c.2307+35G>A (n.2307+35G>A) | gnomAD v4 |
3 | g.38587368_38587370del | CA2665114001 | SCN5A | c.2436+33_2436+35del (n.2436+33_2436+35del) c.2307+33_2307+35del (n.2307+33_2307+35del) | gnomAD v4 |
3 | g.38587366C>A | CA433136216 | SCN5A | c.2436+34G>T (n.2436+34G>T) c.2307+34G>T (n.2307+34G>T) | dbSNP gnomAD v4 |
3 | g.38587366C= | CA1358578114 | SCN5A | c.2436+34G= (n.2436+34G=) c.2307+34G= (n.2307+34G=) | |
3 | g.38587366C>G | CA542615725 | SCN5A | c.2436+34G>C (n.2436+34G>C) c.2307+34G>C (n.2307+34G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587366C>T | CA060421 | SCN5A | c.2436+34G>A (n.2436+34G>A) c.2307+34G>A (n.2307+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587367A= | CA1358578115 | SCN5A | c.2436+33T= (n.2436+33T=) c.2307+33T= (n.2307+33T=) | |
3 | g.38587367A>G | CA906859821 | SCN5A | c.2436+33T>C (n.2436+33T>C) c.2307+33T>C (n.2307+33T>C) | dbSNP gnomAD v4 |
3 | g.38587368C>A | CA542615726 | SCN5A | c.2436+32G>T (n.2436+32G>T) c.2307+32G>T (n.2307+32G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587368C= | CA1358578116 | SCN5A | c.2436+32G= (n.2436+32G=) c.2307+32G= (n.2307+32G=) | |
3 | g.38587368C>G | CA2577676498 | SCN5A | c.2436+32G>C (n.2436+32G>C) c.2307+32G>C (n.2307+32G>C) | |
3 | g.38587369C>A | CA542615727 | SCN5A | c.2436+31G>T (n.2436+31G>T) c.2307+31G>T (n.2307+31G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587369C= | CA1358578117 | SCN5A | c.2436+31G= (n.2436+31G=) c.2307+31G= (n.2307+31G=) | |
3 | g.38587370A= | CA1358578118 | SCN5A | c.2436+30T= (n.2436+30T=) c.2307+30T= (n.2307+30T=) | |
3 | g.38587370A>C | CA2665114002 | SCN5A | c.2436+30T>G (n.2436+30T>G) c.2307+30T>G (n.2307+30T>G) | gnomAD v4 |
3 | g.38587370A>G | CA060416 | SCN5A | c.2436+30T>C (n.2436+30T>C) c.2307+30T>C (n.2307+30T>C) | dbSNP ExAC gnomAD v2 |
3 | g.38587372C>A | CA2665114004 | SCN5A | c.2436+28G>T (n.2436+28G>T) c.2307+28G>T (n.2307+28G>T) | gnomAD v4 |
3 | g.38587372C>G | CA2665114005 | SCN5A | c.2436+28G>C (n.2436+28G>C) c.2307+28G>C (n.2307+28G>C) | gnomAD v4 |
3 | g.38587376del | CA2665114003 | SCN5A | c.2436+28del (n.2436+28del) c.2307+28del (n.2307+28del) | gnomAD v4 |
3 | g.38587373C>T | CA2665114006 | SCN5A | c.2436+27G>A (n.2436+27G>A) c.2307+27G>A (n.2307+27G>A) | gnomAD v4 |
3 | g.38587374C>A | CA542615728 | SCN5A | c.2436+26G>T (n.2436+26G>T) c.2307+26G>T (n.2307+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587374C= | CA1358578119 | SCN5A | c.2436+26G= (n.2436+26G=) c.2307+26G= (n.2307+26G=) | |
3 | g.38587374C>G | CA542615729 | SCN5A | c.2436+26G>C (n.2436+26G>C) c.2307+26G>C (n.2307+26G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587374C>T | CA72929366 | SCN5A | c.2436+26G>A (n.2436+26G>A) c.2307+26G>A (n.2307+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587376C>A | CA2665114007 | SCN5A | c.2436+24G>T (n.2436+24G>T) c.2307+24G>T (n.2307+24G>T) | gnomAD v4 |
3 | g.38587376C>G | CA2755901615 | SCN5A | c.2436+24G>C (n.2436+24G>C) c.2307+24G>C (n.2307+24G>C) | |
3 | g.38587376C>T | CA2665114008 | SCN5A | c.2436+24G>A (n.2436+24G>A) c.2307+24G>A (n.2307+24G>A) | gnomAD v4 |
3 | g.38587377A= | CA1358578120 | SCN5A | c.2436+23T= (n.2436+23T=) c.2307+23T= (n.2307+23T=) | |
3 | g.38587377A>G | CA542615730 | SCN5A | c.2436+23T>C (n.2436+23T>C) c.2307+23T>C (n.2307+23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587378T>C | CA906859832 | SCN5A | c.2436+22A>G (n.2436+22A>G) c.2307+22A>G (n.2307+22A>G) | dbSNP gnomAD v4 |
3 | g.38587378T= | CA1358578121 | SCN5A | c.2436+22A= (n.2436+22A=) c.2307+22A= (n.2307+22A=) | |
3 | g.38587379G>A | CA2665114009 | SCN5A | c.2436+21C>T (n.2436+21C>T) c.2307+21C>T (n.2307+21C>T) | gnomAD v4 |
3 | g.38587380C>A | CA2665114011 | SCN5A | c.2436+20G>T (n.2436+20G>T) c.2307+20G>T (n.2307+20G>T) | gnomAD v4 |
3 | g.38587380C>G | CA2665114010 | SCN5A | c.2436+20G>C (n.2436+20G>C) c.2307+20G>C (n.2307+20G>C) | gnomAD v4 |
3 | g.38587381A>C | CA2665114012 | SCN5A | c.2436+19T>G (n.2436+19T>G) c.2307+19T>G (n.2307+19T>G) | gnomAD v4 |
3 | g.38587381A>G | CA2697550831 | SCN5A | c.2436+19T>C (n.2436+19T>C) c.2307+19T>C (n.2307+19T>C) | ClinVar |
3 | g.38587382G>A | CA906859837 | SCN5A | c.2436+18C>T (n.2436+18C>T) c.2307+18C>T (n.2307+18C>T) | dbSNP |
3 | g.38587382G= | CA1358578122 | SCN5A | c.2436+18C= (n.2436+18C=) c.2307+18C= (n.2307+18C=) | |
3 | g.38587383T>C | CA060411 | SCN5A | c.2436+17A>G (n.2436+17A>G) c.2307+17A>G (n.2307+17A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587383T= | CA1358578123 | SCN5A | c.2436+17A= (n.2436+17A=) c.2307+17A= (n.2307+17A=) | |
3 | g.38587384G>T | CA2577676499 | SCN5A | c.2436+16C>A (n.2436+16C>A) c.2307+16C>A (n.2307+16C>A) | |
3 | g.38587385G>A | CA060408 | SCN5A | c.2436+15C>T (n.2436+15C>T) c.2307+15C>T (n.2307+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587385G= | CA1358578124 | SCN5A | c.2436+15C= (n.2436+15C=) c.2307+15C= (n.2307+15C=) | |
3 | g.38587386G>A | CA542615731 | SCN5A | c.2436+14C>T (n.2436+14C>T) c.2307+14C>T (n.2307+14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587386G>C | CA72929374 | SCN5A | c.2436+14C>G (n.2436+14C>G) c.2307+14C>G (n.2307+14C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587386G= | CA1358578125 | SCN5A | c.2436+14C= (n.2436+14C=) c.2307+14C= (n.2307+14C=) | |
3 | g.38587387T>A | CA2577676500 | SCN5A | c.2436+13A>T (n.2436+13A>T) c.2307+13A>T (n.2307+13A>T) | |
3 | g.38587388C>A | CA2665114013 | SCN5A | c.2436+12G>T (n.2436+12G>T) c.2307+12G>T (n.2307+12G>T) | gnomAD v4 |
3 | g.38587388C= | CA1358578126 | SCN5A | c.2436+12G= (n.2436+12G=) c.2307+12G= (n.2307+12G=) | |
3 | g.38587388C>T | CA016146 | SCN5A | c.2436+12G>A (n.2436+12G>A) c.2307+12G>A (n.2307+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587389C= | CA1358578127 | SCN5A | c.2436+11G= (n.2436+11G=) c.2307+11G= (n.2307+11G=) | |
3 | g.38587389C>T | CA1358578128 | SCN5A | c.2436+11G>A (n.2436+11G>A) c.2307+11G>A (n.2307+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38587390A= | CA1358578129 | SCN5A | c.2436+10T= (n.2436+10T=) c.2307+10T= (n.2307+10T=) | |
3 | g.38587390A>C | CA060396 | SCN5A | c.2436+10T>G (n.2436+10T>G) c.2307+10T>G (n.2307+10T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587391G>A | CA2665114014 | SCN5A | c.2436+9C>T (n.2436+9C>T) c.2307+9C>T (n.2307+9C>T) | gnomAD v4 |
3 | g.38587394A= | CA1358578130 | SCN5A | c.2436+6T= (n.2436+6T=) c.2307+6T= (n.2307+6T=) | |
3 | g.38587394A>G | CA060455 | SCN5A | c.2436+6T>C (n.2436+6T>C) c.2307+6T>C (n.2307+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587395G>A | CA2665114015 | SCN5A | c.2436+5C>T (n.2436+5C>T) c.2307+5C>T (n.2307+5C>T) | gnomAD v4 |
3 | g.38587395G= | CA1358578131 | SCN5A | c.2436+5C= (n.2436+5C=) c.2307+5C= (n.2307+5C=) | |
3 | g.38587395G>T | CA060448 | SCN5A | c.2436+5C>A (n.2436+5C>A) c.2307+5C>A (n.2307+5C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587396G>A | CA2665114016 | SCN5A | c.2436+4C>T (n.2436+4C>T) c.2307+4C>T (n.2307+4C>T) | gnomAD v4 |
3 | g.38587396G= | CA1358578132 | SCN5A | c.2436+4C= (n.2436+4C=) c.2307+4C= (n.2307+4C=) | |
3 | g.38587396G>T | CA1358578133 | SCN5A | c.2436+4C>A (n.2436+4C>A) c.2307+4C>A (n.2307+4C>A) | dbSNP |
3 | g.38587397_38587401delinsAGGCG | CA2586972028 | SCN5A | c.2435_2436+3delinsCGCCT c.2306_2307+3delinsCGCCT | |
3 | g.38587398A>C | CA352143176 | SCN5A | c.2436+2T>G (n.2436+2T>G) c.2307+2T>G (n.2307+2T>G) | |
3 | g.38587398A>G | CA352143177 | SCN5A | c.2436+2T>C (n.2436+2T>C) c.2307+2T>C (n.2307+2T>C) | |
3 | g.38587398A>T | CA352143178 | SCN5A | c.2436+2T>A (n.2436+2T>A) c.2307+2T>A (n.2307+2T>A) | |
3 | g.38587399C>A | CA352143180 | SCN5A | c.2436+1G>T (n.2436+1G>T) c.2307+1G>T (n.2307+1G>T) | |
3 | g.38587399C= | CA1358578134 | SCN5A | c.2436+1G= (n.2436+1G=) c.2307+1G= (n.2307+1G=) | |
3 | g.38587399C>G | CA352143181 | SCN5A | c.2436+1G>C (n.2436+1G>C) c.2307+1G>C (n.2307+1G>C) | dbSNP |
3 | g.38587399C>T | CA352143179 | SCN5A | c.2436+1G>A (n.2436+1G>A) c.2307+1G>A (n.2307+1G>A) | |
3 | g.38587400C>A | CA433136217 | SCN5A | c.2436G>T (p.Leu812=) c.2307G>T (p.Leu769=) | |
3 | g.38587400C>G | CA433136218 | SCN5A | c.2436G>C (p.Leu812=) c.2307G>C (p.Leu769=) | |
3 | g.38587400C>T | CA433136219 | SCN5A | c.2436G>A (p.Leu812=) c.2307G>A (p.Leu769=) | ClinVar |
3 | g.38587401A>C | CA352143182 | SCN5A | c.2435T>G (p.Leu812Arg) c.2306T>G (p.Leu769Arg) | |
3 | g.38587401A>G | CA352143183 | SCN5A | c.2435T>C (p.Leu812Pro) c.2306T>C (p.Leu769Pro) | ClinVar |
3 | g.38587401A>T | CA352143184 | SCN5A | c.2435T>A (p.Leu812Gln) c.2306T>A (p.Leu769Gln) | |
3 | g.38587402G>A | CA433136220 | SCN5A | c.2434C>T (p.Leu812=) c.2305C>T (p.Leu769=) | |
3 | g.38587402G>C | CA352143185 | SCN5A | c.2434C>G (p.Leu812Val) c.2305C>G (p.Leu769Val) | |
3 | g.38587402G>T | CA352143186 | SCN5A | c.2434C>A (p.Leu812Met) c.2305C>A (p.Leu769Met) | |
3 | g.38587403G>A | CA433136221 | SCN5A | c.2433C>T (p.Arg811=) c.2304C>T (p.Arg768=) | ClinVar gnomAD v4 |
3 | g.38587403G>C | CA433136222 | SCN5A | c.2433C>G (p.Arg811=) c.2304C>G (p.Arg768=) | |
3 | g.38587403G>T | CA433136223 | SCN5A | c.2433C>A (p.Arg811=) c.2304C>A (p.Arg768=) | |
3 | g.38587404C>A | CA352143188 | SCN5A | c.2432G>T (p.Arg811Leu) c.2303G>T (p.Arg768Leu) | ClinVar |
3 | g.38587404C= | CA1358578135 | SCN5A | c.2432G= (p.Arg811=) c.2303G= (p.Arg768=) | |
3 | g.38587404C>G | CA352143187 | SCN5A | c.2432G>C (p.Arg811Pro) c.2303G>C (p.Arg768Pro) | |
3 | g.38587404C>T | CA060390 | SCN5A | c.2432G>A (p.Arg811His) c.2303G>A (p.Arg768His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38587405G>A | CA016138 | SCN5A | c.2431C>T (p.Arg811Cys) c.2302C>T (p.Arg768Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38587405G>C | CA352143189 | SCN5A | c.2431C>G (p.Arg811Gly) c.2302C>G (p.Arg768Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587405G= | CA1358578136 | SCN5A | c.2431C= (p.Arg811=) c.2302C= (p.Arg768=) | |
3 | g.38587405G>T | CA352143190 | SCN5A | c.2431C>A (p.Arg811Ser) c.2302C>A (p.Arg768Ser) | |
3 | g.38587406G>A | CA433136227 | SCN5A | c.2430C>T (p.Phe810=) c.2301C>T (p.Phe767=) | |
3 | g.38587406G>C | CA352143191 | SCN5A | c.2430C>G (p.Phe810Leu) c.2301C>G (p.Phe767Leu) | |
3 | g.38587406G>T | CA352143192 | SCN5A | c.2430C>A (p.Phe810Leu) c.2301C>A (p.Phe767Leu) | |
3 | g.38587407A>C | CA352143193 | SCN5A | c.2429T>G (p.Phe810Cys) c.2300T>G (p.Phe767Cys) | |
3 | g.38587407A>G | CA352143195 | SCN5A | c.2429T>C (p.Phe810Ser) c.2300T>C (p.Phe767Ser) | |
3 | g.38587407A>T | CA352143194 | SCN5A | c.2429T>A (p.Phe810Tyr) c.2300T>A (p.Phe767Tyr) | |
3 | g.38587410_38587427del | CA2586972029 | SCN5A | c.2412_2429del (p.Leu804_Ser809del) c.2283_2300del (p.Leu761_Ser766del) | gnomAD v4 |
3 | g.38587408A>C | CA352143196 | SCN5A | c.2428T>G (p.Phe810Val) c.2299T>G (p.Phe767Val) | |
3 | g.38587408A>G | CA352143197 | SCN5A | c.2428T>C (p.Phe810Leu) c.2299T>C (p.Phe767Leu) | |
3 | g.38587408A>T | CA352143198 | SCN5A | c.2428T>A (p.Phe810Ile) c.2299T>A (p.Phe767Ile) | |
3 | g.38587409G>A | CA433136229 | SCN5A | c.2427C>T (p.Ser809=) c.2298C>T (p.Ser766=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587409G>C | CA433136230 | SCN5A | c.2427C>G (p.Ser809=) c.2298C>G (p.Ser766=) | |
3 | g.38587409G= | CA1358578137 | SCN5A | c.2427C= (p.Ser809=) c.2298C= (p.Ser766=) | |
3 | g.38587409G>T | CA433136231 | SCN5A | c.2427C>A (p.Ser809=) c.2298C>A (p.Ser766=) | |
3 | g.38587410G>A | CA352143199 | SCN5A | c.2426C>T (p.Ser809Phe) c.2297C>T (p.Ser766Phe) | |
3 | g.38587410G>C | CA352143200 | SCN5A | c.2426C>G (p.Ser809Cys) c.2297C>G (p.Ser766Cys) | |
3 | g.38587410G>T | CA352143201 | SCN5A | c.2426C>A (p.Ser809Tyr) c.2297C>A (p.Ser766Tyr) | |
3 | g.38587411A>C | CA352143202 | SCN5A | c.2425T>G (p.Ser809Ala) c.2296T>G (p.Ser766Ala) | |
3 | g.38587411A>G | CA352143203 | SCN5A | c.2425T>C (p.Ser809Pro) c.2296T>C (p.Ser766Pro) | |
3 | g.38587411A>T | CA352143204 | SCN5A | c.2425T>A (p.Ser809Thr) c.2296T>A (p.Ser766Thr) | |
3 | g.38587412G>A | CA433136234 | SCN5A | c.2424C>T (p.Arg808=) c.2295C>T (p.Arg765=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587412G>C | CA433136232 | SCN5A | c.2424C>G (p.Arg808=) c.2295C>G (p.Arg765=) | |
3 | g.38587412G= | CA1358578138 | SCN5A | c.2424C= (p.Arg808=) c.2295C= (p.Arg765=) | |
3 | g.38587412G>T | CA433136233 | SCN5A | c.2424C>A (p.Arg808=) c.2295C>A (p.Arg765=) | |
3 | g.38587413C>A | CA352143205 | SCN5A | c.2423G>T (p.Arg808Leu) c.2294G>T (p.Arg765Leu) | |
3 | g.38587413C= | CA1358578139 | SCN5A | c.2423G= (p.Arg808=) c.2294G= (p.Arg765=) | |
3 | g.38587413C>G | CA016130 | SCN5A | c.2423G>C (p.Arg808Pro) c.2294G>C (p.Arg765Pro) | ClinVar dbSNP |
3 | g.38587413C>T | CA016124 | SCN5A | c.2423G>A (p.Arg808His) c.2294G>A (p.Arg765His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38587414G>A | CA060381 | SCN5A | c.2422C>T (p.Arg808Cys) c.2293C>T (p.Arg765Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587414G>C | CA352143207 | SCN5A | c.2422C>G (p.Arg808Gly) c.2293C>G (p.Arg765Gly) | |
3 | g.38587414G= | CA1358578140 | SCN5A | c.2422C= (p.Arg808=) c.2293C= (p.Arg765=) | |
3 | g.38587414G>T | CA352143206 | SCN5A | c.2422C>A (p.Arg808Ser) c.2293C>A (p.Arg765Ser) | |
3 | g.38587415C>A | CA433136236 | SCN5A | c.2421G>T (p.Leu807=) c.2292G>T (p.Leu764=) | |
3 | g.38587415C>G | CA433136237 | SCN5A | c.2421G>C (p.Leu807=) c.2292G>C (p.Leu764=) | |
3 | g.38587415C>T | CA433136238 | SCN5A | c.2421G>A (p.Leu807=) c.2292G>A (p.Leu764=) | |
3 | g.38587416A= | CA1358578141 | SCN5A | c.2420T= (p.Leu807=) c.2291T= (p.Leu764=) | |
3 | g.38587416A>C | CA352143209 | SCN5A | c.2420T>G (p.Leu807Arg) c.2291T>G (p.Leu764Arg) | |
3 | g.38587416A>G | CA16617951 | SCN5A | c.2420T>C (p.Leu807Pro) c.2291T>C (p.Leu764Pro) | ClinVar dbSNP |
3 | g.38587416A>T | CA352143208 | SCN5A | c.2420T>A (p.Leu807Gln) c.2291T>A (p.Leu764Gln) | |
3 | g.38587417G>A | CA433136240 | SCN5A | c.2419C>T (p.Leu807=) c.2290C>T (p.Leu764=) | |
3 | g.38587417G>C | CA352143210 | SCN5A | c.2419C>G (p.Leu807Val) c.2290C>G (p.Leu764Val) | |
3 | g.38587417G>T | CA352143211 | SCN5A | c.2419C>A (p.Leu807Met) c.2290C>A (p.Leu764Met) | |
3 | g.38587418C>A | CA433136243 | SCN5A | c.2418G>T (p.Val806=) c.2289G>T (p.Val763=) | |
3 | g.38587418C>G | CA433136245 | SCN5A | c.2418G>C (p.Val806=) c.2289G>C (p.Val763=) | |
3 | g.38587418C>T | CA433136244 | SCN5A | c.2418G>A (p.Val806=) c.2289G>A (p.Val763=) | |
3 | g.38587419A>C | CA352143212 | SCN5A | c.2417T>G (p.Val806Gly) c.2288T>G (p.Val763Gly) | ClinVar gnomAD v4 |
3 | g.38587419A>G | CA352143213 | SCN5A | c.2417T>C (p.Val806Ala) c.2288T>C (p.Val763Ala) | |
3 | g.38587419A>T | CA352143214 | SCN5A | c.2417T>A (p.Val806Glu) c.2288T>A (p.Val763Glu) | |
3 | g.38587420C>A | CA352143215 | SCN5A | c.2416G>T (p.Val806Leu) c.2287G>T (p.Val763Leu) | |
3 | g.38587420C= | CA1358578142 | SCN5A | c.2416G= (p.Val806=) c.2287G= (p.Val763=) | |
3 | g.38587420C>G | CA352143216 | SCN5A | c.2416G>C (p.Val806Leu) c.2287G>C (p.Val763Leu) | |
3 | g.38587420C>T | CA060376 | SCN5A | c.2416G>A (p.Val806Met) c.2287G>A (p.Val763Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587421C>A | CA433136248 | SCN5A | c.2415G>T (p.Ser805=) c.2286G>T (p.Ser762=) | |
3 | g.38587421C= | CA1358578143 | SCN5A | c.2415G= (p.Ser805=) c.2286G= (p.Ser762=) | |
3 | g.38587421C>G | CA060370 | SCN5A | c.2415G>C (p.Ser805=) c.2286G>C (p.Ser762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587421C>T | CA060365 | SCN5A | c.2415G>A (p.Ser805=) c.2286G>A (p.Ser762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38587422G>A | CA060361 | SCN5A | c.2414C>T (p.Ser805Leu) c.2285C>T (p.Ser762Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587422G>C | CA352143217 | SCN5A | c.2414C>G (p.Ser805Trp) c.2285C>G (p.Ser762Trp) | |
3 | g.38587422G= | CA1358578144 | SCN5A | c.2414C= (p.Ser805=) c.2285C= (p.Ser762=) | |
3 | g.38587422G>T | CA352143218 | SCN5A | c.2414C>A (p.Ser805Ter) c.2285C>A (p.Ser762Ter) | dbSNP |
3 | g.38587423A>C | CA352143219 | SCN5A | c.2413T>G (p.Ser805Ala) c.2284T>G (p.Ser762Ala) | |
3 | g.38587423A>G | CA352143220 | SCN5A | c.2413T>C (p.Ser805Pro) c.2284T>C (p.Ser762Pro) | |
3 | g.38587423A>T | CA352143221 | SCN5A | c.2413T>A (p.Ser805Thr) c.2284T>A (p.Ser762Thr) | gnomAD v4 |
3 | g.38587424C>A | CA352143222 | SCN5A | c.2412G>T (p.Leu804Phe) c.2283G>T (p.Leu761Phe) | |
3 | g.38587424C>G | CA352143223 | SCN5A | c.2412G>C (p.Leu804Phe) c.2283G>C (p.Leu761Phe) | |
3 | g.38587424C>T | CA433136250 | SCN5A | c.2412G>A (p.Leu804=) c.2283G>A (p.Leu761=) | |
3 | g.38587425A= | CA1358578145 | SCN5A | c.2411T= (p.Leu804=) c.2282T= (p.Leu761=) | |
3 | g.38587425A>C | CA352143224 | SCN5A | c.2411T>G (p.Leu804Trp) c.2282T>G (p.Leu761Trp) | |
3 | g.38587425A>G | CA352143225 | SCN5A | c.2411T>C (p.Leu804Ser) c.2282T>C (p.Leu761Ser) | |
3 | g.38587425A>T | CA352143226 | SCN5A | c.2411T>A (p.Leu804Ter) c.2282T>A (p.Leu761Ter) | dbSNP |
3 | g.38587426A= | CA1358578146 | SCN5A | c.2410T= (p.Leu804=) c.2281T= (p.Leu761=) | |
3 | g.38587426A>C | CA352143227 | SCN5A | c.2410T>G (p.Leu804Val) c.2281T>G (p.Leu761Val) | gnomAD v4 |
3 | g.38587426A>G | CA433136252 | SCN5A | c.2410T>C (p.Leu804=) c.2281T>C (p.Leu761=) | gnomAD v4 |
3 | g.38587426A>T | CA352143228 | SCN5A | c.2410T>A (p.Leu804Met) c.2281T>A (p.Leu761Met) | dbSNP |
3 | g.38587427G>A | CA433136253 | SCN5A | c.2409C>T (p.Asn803=) c.2280C>T (p.Asn760=) | |
3 | g.38587427G>C | CA352143229 | SCN5A | c.2409C>G (p.Asn803Lys) c.2280C>G (p.Asn760Lys) | |
3 | g.38587427G>T | CA352143230 | SCN5A | c.2409C>A (p.Asn803Lys) c.2280C>A (p.Asn760Lys) | |
3 | g.38587428T>A | CA352143232 | SCN5A | c.2408A>T (p.Asn803Ile) c.2279A>T (p.Asn760Ile) | |
3 | g.38587428T>C | CA352143233 | SCN5A | c.2408A>G (p.Asn803Ser) c.2279A>G (p.Asn760Ser) | dbSNP |
3 | g.38587428T>G | CA352143231 | SCN5A | c.2408A>C (p.Asn803Thr) c.2279A>C (p.Asn760Thr) | |
3 | g.38587428T= | CA1358578147 | SCN5A | c.2408A= (p.Asn803=) c.2279A= (p.Asn760=) | |
3 | g.38587428_38587435delinsGA | CA2586972030 | SCN5A | c.2401_2408delinsTC (p.Met801_Asn803delinsSer) c.2272_2279delinsTC (p.Met758_Asn760delinsSer) | |
3 | g.38587429T>A | CA352143234 | SCN5A | c.2407A>T (p.Asn803Tyr) c.2278A>T (p.Asn760Tyr) | |
3 | g.38587429T>C | CA352143235 | SCN5A | c.2407A>G (p.Asn803Asp) c.2278A>G (p.Asn760Asp) | |
3 | g.38587429T>G | CA352143236 | SCN5A | c.2407A>C (p.Asn803His) c.2278A>C (p.Asn760His) | dbSNP |
3 | g.38587429T= | CA1358578148 | SCN5A | c.2407A= (p.Asn803=) c.2278A= (p.Asn760=) | |
3 | g.38587430G>A | CA433136254 | SCN5A | c.2406C>T (p.Ser802=) c.2277C>T (p.Ser759=) | |
3 | g.38587430G>C | CA352143237 | SCN5A | c.2406C>G (p.Ser802Arg) c.2277C>G (p.Ser759Arg) | |
3 | g.38587430G>T | CA352143238 | SCN5A | c.2406C>A (p.Ser802Arg) c.2277C>A (p.Ser759Arg) | gnomAD v4 |
3 | g.38587431C>A | CA352143241 | SCN5A | c.2405G>T (p.Ser802Ile) c.2276G>T (p.Ser759Ile) | |
3 | g.38587431C>G | CA352143240 | SCN5A | c.2405G>C (p.Ser802Thr) c.2276G>C (p.Ser759Thr) | |
3 | g.38587431C>T | CA352143239 | SCN5A | c.2405G>A (p.Ser802Asn) c.2276G>A (p.Ser759Asn) | gnomAD v4 |
3 | g.38587432T>A | CA352143242 | SCN5A | c.2404A>T (p.Ser802Cys) c.2275A>T (p.Ser759Cys) | |
3 | g.38587432T>C | CA352143243 | SCN5A | c.2404A>G (p.Ser802Gly) c.2275A>G (p.Ser759Gly) | |
3 | g.38587432T>G | CA352143244 | SCN5A | c.2404A>C (p.Ser802Arg) c.2275A>C (p.Ser759Arg) | |
3 | g.38587433C>A | CA352143245 | SCN5A | c.2403G>T (p.Met801Ile) c.2274G>T (p.Met758Ile) | |
3 | g.38587433C= | CA1358578149 | SCN5A | c.2403G= (p.Met801=) c.2274G= (p.Met758=) | |
3 | g.38587433C>G | CA352143246 | SCN5A | c.2403G>C (p.Met801Ile) c.2274G>C (p.Met758Ile) | ClinVar dbSNP |
3 | g.38587433C>T | CA352143247 | SCN5A | c.2403G>A (p.Met801Ile) c.2274G>A (p.Met758Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.38587434A>C | CA352143248 | SCN5A | c.2402T>G (p.Met801Arg) c.2273T>G (p.Met758Arg) | |
3 | g.38587434A>G | CA352143250 | SCN5A | c.2402T>C (p.Met801Thr) c.2273T>C (p.Met758Thr) | |
3 | g.38587434A>T | CA352143249 | SCN5A | c.2402T>A (p.Met801Lys) c.2273T>A (p.Met758Lys) | |
3 | g.38587435T>A | CA352143251 | SCN5A | c.2401A>T (p.Met801Leu) c.2272A>T (p.Met758Leu) | dbSNP |
3 | g.38587435T>C | CA352143252 | SCN5A | c.2401A>G (p.Met801Val) c.2272A>G (p.Met758Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587435T>G | CA352143253 | SCN5A | c.2401A>C (p.Met801Leu) c.2272A>C (p.Met758Leu) | ClinVar |
3 | g.38587435T= | CA1358578150 | SCN5A | c.2401A= (p.Met801=) c.2272A= (p.Met758=) | |
3 | g.38587436G>A | CA433136256 | SCN5A | c.2400C>T (p.Arg800=) c.2271C>T (p.Arg757=) | dbSNP |
3 | g.38587436G>C | CA433136257 | SCN5A | c.2400C>G (p.Arg800=) c.2271C>G (p.Arg757=) | |
3 | g.38587436G= | CA1358578151 | SCN5A | c.2400C= (p.Arg800=) c.2271C= (p.Arg757=) | |
3 | g.38587436G>T | CA433136258 | SCN5A | c.2400C>A (p.Arg800=) c.2271C>A (p.Arg757=) | |
3 | g.38587437C>A | CA060340 | SCN5A | c.2399G>T (p.Arg800Leu) c.2270G>T (p.Arg757Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587437C= | CA1358578152 | SCN5A | c.2399G= (p.Arg800=) c.2270G= (p.Arg757=) | |
3 | g.38587437C>G | CA352143254 | SCN5A | c.2399G>C (p.Arg800Pro) c.2270G>C (p.Arg757Pro) | |
3 | g.38587437C>T | CA060332 | SCN5A | c.2399G>A (p.Arg800His) c.2270G>A (p.Arg757His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587438G>A | CA060327 | SCN5A | c.2398C>T (p.Arg800Cys) c.2269C>T (p.Arg757Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587438G>C | CA352143255 | SCN5A | c.2398C>G (p.Arg800Gly) c.2269C>G (p.Arg757Gly) | dbSNP |
3 | g.38587438G= | CA1358578153 | SCN5A | c.2398C= (p.Arg800=) c.2269C= (p.Arg757=) | |
3 | g.38587438G>T | CA352143256 | SCN5A | c.2398C>A (p.Arg800Ser) c.2269C>A (p.Arg757Ser) | |
3 | g.38587439G>A | CA433136262 | SCN5A | c.2397C>T (p.Ser799=) c.2268C>T (p.Ser756=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38587439G>C | CA433136263 | SCN5A | c.2397C>G (p.Ser799=) c.2268C>G (p.Ser756=) | ClinVar |
3 | g.38587439G= | CA1358578154 | SCN5A | c.2397C= (p.Ser799=) c.2268C= (p.Ser756=) | |
3 | g.38587439G>T | CA433136264 | SCN5A | c.2397C>A (p.Ser799=) c.2268C>A (p.Ser756=) | COSMIC COSMIC COSMIC |
3 | g.38587440G>A | CA352143257 | SCN5A | c.2396C>T (p.Ser799Phe) c.2267C>T (p.Ser756Phe) | dbSNP gnomAD v4 |
3 | g.38587440G>C | CA352143258 | SCN5A | c.2396C>G (p.Ser799Cys) c.2267C>G (p.Ser756Cys) | |
3 | g.38587440G= | CA1358578155 | SCN5A | c.2396C= (p.Ser799=) c.2267C= (p.Ser756=) | |
3 | g.38587440G>T | CA352143259 | SCN5A | c.2396C>A (p.Ser799Tyr) c.2267C>A (p.Ser756Tyr) | ClinVar dbSNP |
3 | g.38587441A>C | CA352143262 | SCN5A | c.2395T>G (p.Ser799Ala) c.2266T>G (p.Ser756Ala) | |
3 | g.38587441A>G | CA352143261 | SCN5A | c.2395T>C (p.Ser799Pro) c.2266T>C (p.Ser756Pro) | gnomAD v4 |
3 | g.38587441A>T | CA352143260 | SCN5A | c.2395T>A (p.Ser799Thr) c.2266T>A (p.Ser756Thr) | |
3 | g.38587442C>A | CA433136265 | SCN5A | c.2394G>T (p.Leu798=) c.2265G>T (p.Leu755=) | |
3 | g.38587442C>G | CA433136266 | SCN5A | c.2394G>C (p.Leu798=) c.2265G>C (p.Leu755=) | |
3 | g.38587442C>T | CA433136267 | SCN5A | c.2394G>A (p.Leu798=) c.2265G>A (p.Leu755=) | |
3 | g.38587442_38587443delinsCA | CA1358578156 | SCN5A | c.2393_2394delinsTG (p.Leu798=) c.2264_2265delinsTG (p.Leu755=) | |
3 | g.38587443del | CA1358578157 | SCN5A | c.2393del (p.Leu798ArgfsTer4) c.2264del (p.Leu755ArgfsTer4) | dbSNP gnomAD v4 |
3 | g.38587443A>C | CA352143263 | SCN5A | c.2393T>G (p.Leu798Arg) c.2264T>G (p.Leu755Arg) | |
3 | g.38587443A>G | CA352143264 | SCN5A | c.2393T>C (p.Leu798Pro) c.2264T>C (p.Leu755Pro) | |
3 | g.38587443A>T | CA352143265 | SCN5A | c.2393T>A (p.Leu798Gln) c.2264T>A (p.Leu755Gln) | |
3 | g.38587444G>A | CA433136269 | SCN5A | c.2392C>T (p.Leu798=) c.2263C>T (p.Leu755=) | COSMIC COSMIC COSMIC |
3 | g.38587444G>C | CA352143266 | SCN5A | c.2392C>G (p.Leu798Val) c.2263C>G (p.Leu755Val) | |
3 | g.38587444G>T | CA352143267 | SCN5A | c.2392C>A (p.Leu798Met) c.2263C>A (p.Leu755Met) | |
3 | g.38587445G>A | CA433136271 | SCN5A | c.2391C>T (p.Gly797=) c.2262C>T (p.Gly754=) | |
3 | g.38587445G>C | CA433136272 | SCN5A | c.2391C>G (p.Gly797=) c.2262C>G (p.Gly754=) | |
3 | g.38587445G>T | CA433136273 | SCN5A | c.2391C>A (p.Gly797=) c.2262C>A (p.Gly754=) | gnomAD v4 |
3 | g.38587446C>A | CA72929420 | SCN5A | c.2390G>T (p.Gly797Val) c.2261G>T (p.Gly754Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38587446C= | CA1358578158 | SCN5A | c.2390G= (p.Gly797=) c.2261G= (p.Gly754=) | |
3 | g.38587446C>G | CA352143268 | SCN5A | c.2390G>C (p.Gly797Ala) c.2261G>C (p.Gly754Ala) | ClinVar dbSNP |
3 | g.38587446C>T | CA352143269 | SCN5A | c.2390G>A (p.Gly797Asp) c.2261G>A (p.Gly754Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.38587447C>A | CA352143270 | SCN5A | c.2389G>T (p.Gly797Cys) c.2260G>T (p.Gly754Cys) | |
3 | g.38587447C>G | CA352143271 | SCN5A | c.2389G>C (p.Gly797Arg) c.2260G>C (p.Gly754Arg) | |
3 | g.38587447C>T | CA352143272 | SCN5A | c.2389G>A (p.Gly797Ser) c.2260G>A (p.Gly754Ser) | |
3 | g.38587448C>A | CA433136274 | SCN5A | c.2388G>T (p.Leu796=) c.2259G>T (p.Leu753=) | |
3 | g.38587448C>G | CA433136275 | SCN5A | c.2388G>C (p.Leu796=) c.2259G>C (p.Leu753=) | |
3 | g.38587448C>T | CA433136276 | SCN5A | c.2388G>A (p.Leu796=) c.2259G>A (p.Leu753=) | gnomAD v4 |
3 | g.38587449A>C | CA352143273 | SCN5A | c.2387T>G (p.Leu796Arg) c.2258T>G (p.Leu753Arg) | |
3 | g.38587449A>G | CA352143274 | SCN5A | c.2387T>C (p.Leu796Pro) c.2258T>C (p.Leu753Pro) | |
3 | g.38587449A>T | CA352143275 | SCN5A | c.2387T>A (p.Leu796Gln) c.2258T>A (p.Leu753Gln) | |
3 | g.38587450G>A | CA060317 | SCN5A | c.2386C>T (p.Leu796=) c.2257C>T (p.Leu753=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38587450G>C | CA352143277 | SCN5A | c.2386C>G (p.Leu796Val) c.2257C>G (p.Leu753Val) | |
3 | g.38587450G= | CA1358578159 | SCN5A | c.2386C= (p.Leu796=) c.2257C= (p.Leu753=) | |
3 | g.38587450G>T | CA352143276 | SCN5A | c.2386C>A (p.Leu796Met) c.2257C>A (p.Leu753Met) | ClinVar dbSNP gnomAD v4 |
3 | g.38587451C>A | CA352143278 | SCN5A | c.2385G>T (p.Glu795Asp) c.2256G>T (p.Glu752Asp) | |
3 | g.38587451C= | CA1358578160 | SCN5A | c.2385G= (p.Glu795=) c.2256G= (p.Glu752=) | |
3 | g.38587451C>G | CA352143279 | SCN5A | c.2385G>C (p.Glu795Asp) c.2256G>C (p.Glu752Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38587451C>T | CA433136280 | SCN5A | c.2385G>A (p.Glu795=) c.2256G>A (p.Glu752=) | |
3 | g.38587452T>A | CA352143280 | SCN5A | c.2384A>T (p.Glu795Val) c.2255A>T (p.Glu752Val) | |
3 | g.38587452T>C | CA352143281 | SCN5A | c.2384A>G (p.Glu795Gly) c.2255A>G (p.Glu752Gly) | |
3 | g.38587452T>G | CA352143282 | SCN5A | c.2384A>C (p.Glu795Ala) c.2255A>C (p.Glu752Ala) | |
3 | g.38587453C>A | CA352143283 | SCN5A | c.2383G>T (p.Glu795Ter) c.2254G>T (p.Glu752Ter) | dbSNP |
3 | g.38587453C= | CA1358578161 | SCN5A | c.2383G= (p.Glu795=) c.2254G= (p.Glu752=) | |
3 | g.38587453C>G | CA352143284 | SCN5A | c.2383G>C (p.Glu795Gln) c.2254G>C (p.Glu752Gln) | ClinVar |
3 | g.38587453C>T | CA16611283 | SCN5A | c.2383G>A (p.Glu795Lys) c.2254G>A (p.Glu752Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38587454C>A | CA352143285 | SCN5A | c.2382G>T (p.Met794Ile) c.2253G>T (p.Met751Ile) | |
3 | g.38587454C= | CA1358578162 | SCN5A | c.2382G= (p.Met794=) c.2253G= (p.Met751=) | |
3 | g.38587454C>G | CA352143286 | SCN5A | c.2382G>C (p.Met794Ile) c.2253G>C (p.Met751Ile) | ClinVar dbSNP |
3 | g.38587454C>T | CA352143287 | SCN5A | c.2382G>A (p.Met794Ile) c.2253G>A (p.Met751Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38587455A= | CA1358578163 | SCN5A | c.2381T= (p.Met794=) c.2252T= (p.Met751=) | |
3 | g.38587455A>C | CA352143288 | SCN5A | c.2381T>G (p.Met794Arg) c.2252T>G (p.Met751Arg) | |
3 | g.38587455A>G | CA16604918 | SCN5A | c.2381T>C (p.Met794Thr) c.2252T>C (p.Met751Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.38587455A>T | CA352143289 | SCN5A | c.2381T>A (p.Met794Lys) c.2252T>A (p.Met751Lys) | |
3 | g.38587456T>A | CA352143291 | SCN5A | c.2380A>T (p.Met794Leu) c.2251A>T (p.Met751Leu) | |
3 | g.38587456T>C | CA352143292 | SCN5A | c.2380A>G (p.Met794Val) c.2251A>G (p.Met751Val) | ClinVar |
3 | g.38587456T>G | CA352143290 | SCN5A | c.2380A>C (p.Met794Leu) c.2251A>C (p.Met751Leu) | |
3 | g.38587457G>A | CA060305 | SCN5A | c.2379C>T (p.Leu793=) c.2250C>T (p.Leu750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38587457G>C | CA433136285 | SCN5A | c.2379C>G (p.Leu793=) c.2250C>G (p.Leu750=) | |
3 | g.38587457G= | CA1358578164 | SCN5A | c.2379C= (p.Leu793=) c.2250C= (p.Leu750=) | |
3 | g.38587457G>T | CA433136286 | SCN5A | c.2379C>A (p.Leu793=) c.2250C>A (p.Leu750=) | |
3 | g.38587458A>C | CA352143293 | SCN5A | c.2378T>G (p.Leu793Arg) c.2249T>G (p.Leu750Arg) | |
3 | g.38587458A>G | CA352143294 | SCN5A | c.2378T>C (p.Leu793Pro) c.2249T>C (p.Leu750Pro) | |
3 | g.38587458A>T | CA352143295 | SCN5A | c.2378T>A (p.Leu793His) c.2249T>A (p.Leu750His) | |
3 | g.38587459G>A | CA352143296 | SCN5A | c.2377C>T (p.Leu793Phe) c.2248C>T (p.Leu750Phe) | ClinVar dbSNP gnomAD v2 |
3 | g.38587459G>C | CA352143297 | SCN5A | c.2377C>G (p.Leu793Val) c.2248C>G (p.Leu750Val) | |
3 | g.38587459G= | CA1358578165 | SCN5A | c.2377C= (p.Leu793=) c.2248C= (p.Leu750=) | |
3 | g.38587459G>T | CA352143298 | SCN5A | c.2377C>A (p.Leu793Ile) c.2248C>A (p.Leu750Ile) | |
3 | g.38587460G>A | CA433136287 | SCN5A | c.2376C>T (p.Ser792=) c.2247C>T (p.Ser749=) | |
3 | g.38587460G>C | CA352143299 | SCN5A | c.2376C>G (p.Ser792Arg) c.2247C>G (p.Ser749Arg) | |
3 | g.38587460G>T | CA352143300 | SCN5A | c.2376C>A (p.Ser792Arg) c.2247C>A (p.Ser749Arg) | |
3 | g.38587461C>A | CA352143301 | SCN5A | c.2375G>T (p.Ser792Ile) c.2246G>T (p.Ser749Ile) | |
3 | g.38587461C>G | CA352143302 | SCN5A | c.2375G>C (p.Ser792Thr) c.2246G>C (p.Ser749Thr) | |
3 | g.38587461C>T | CA352143303 | SCN5A | c.2375G>A (p.Ser792Asn) c.2246G>A (p.Ser749Asn) | |
3 | g.38587462T>A | CA352143305 | SCN5A | c.2374A>T (p.Ser792Cys) c.2245A>T (p.Ser749Cys) | |
3 | g.38587462T>C | CA352143306 | SCN5A | c.2374A>G (p.Ser792Gly) c.2245A>G (p.Ser749Gly) | |
3 | g.38587462T>G | CA352143304 | SCN5A | c.2374A>C (p.Ser792Arg) c.2245A>C (p.Ser749Arg) | |
3 | g.38587462dup | CA2586972031 | SCN5A | c.2374dup (p.Ser792LysfsTer?) c.2245dup (p.Ser749LysfsTer?) | |
3 | g.38587463A>C | CA433136289 | SCN5A | c.2373T>G (p.Leu791=) c.2244T>G (p.Leu748=) | |
3 | g.38587463A>G | CA433136291 | SCN5A | c.2373T>C (p.Leu791=) c.2244T>C (p.Leu748=) | gnomAD v4 |
3 | g.38587463A>T | CA433136290 | SCN5A | c.2373T>A (p.Leu791=) c.2244T>A (p.Leu748=) | |
3 | g.38587464A>C | CA352143307 | SCN5A | c.2372T>G (p.Leu791Arg) c.2243T>G (p.Leu748Arg) | |
3 | g.38587464A>G | CA352143308 | SCN5A | c.2372T>C (p.Leu791Pro) c.2243T>C (p.Leu748Pro) | |
3 | g.38587464A>T | CA352143309 | SCN5A | c.2372T>A (p.Leu791His) c.2243T>A (p.Leu748His) | |
3 | g.38587465G>A | CA352143310 | SCN5A | c.2371C>T (p.Leu791Phe) c.2242C>T (p.Leu748Phe) | dbSNP gnomAD v4 |
3 | g.38587465G>C | CA352143311 | SCN5A | c.2371C>G (p.Leu791Val) c.2242C>G (p.Leu748Val) | |
3 | g.38587465G= | CA1358578166 | SCN5A | c.2371C= (p.Leu791=) c.2242C= (p.Leu748=) | |
3 | g.38587465G>T | CA352143312 | SCN5A | c.2371C>A (p.Leu791Ile) c.2242C>A (p.Leu748Ile) |