Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38587347C>ACA2665113983SCN5Ac.2436+53G>T (n.2436+53G>T)
c.2307+53G>T (n.2307+53G>T)
 gnomAD v4
3g.38587347C>TCA2665113984SCN5Ac.2436+53G>A (n.2436+53G>A)
c.2307+53G>A (n.2307+53G>A)
 gnomAD v4
3g.38587348delCA2665113982SCN5Ac.2436+53del (n.2436+53del)
c.2307+53del (n.2307+53del)
 gnomAD v4
3g.38587348C>ACA2665113985SCN5Ac.2436+52G>T (n.2436+52G>T)
c.2307+52G>T (n.2307+52G>T)
 gnomAD v4
3g.38587348C=CA1358578102SCN5Ac.2436+52G= (n.2436+52G=)
c.2307+52G= (n.2307+52G=)
3g.38587348C>GCA2665113986SCN5Ac.2436+52G>C (n.2436+52G>C)
c.2307+52G>C (n.2307+52G>C)
 gnomAD v4
3g.38587348C>TCA542615719SCN5Ac.2436+52G>A (n.2436+52G>A)
c.2307+52G>A (n.2307+52G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587349G>ACA542615720SCN5Ac.2436+51C>T (n.2436+51C>T)
c.2307+51C>T (n.2307+51C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38587349G=CA1358578103SCN5Ac.2436+51C= (n.2436+51C=)
c.2307+51C= (n.2307+51C=)
3g.38587349G>TCA2665113987SCN5Ac.2436+51C>A (n.2436+51C>A)
c.2307+51C>A (n.2307+51C>A)
 gnomAD v4
3g.38587351G>ACA542615721SCN5Ac.2436+49C>T (n.2436+49C>T)
c.2307+49C>T (n.2307+49C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38587351G>CCA1358578105SCN5Ac.2436+49C>G (n.2436+49C>G)
c.2307+49C>G (n.2307+49C>G)
 dbSNP
3g.38587351G=CA1358578104SCN5Ac.2436+49C= (n.2436+49C=)
c.2307+49C= (n.2307+49C=)
3g.38587351G>TCA2665113988SCN5Ac.2436+49C>A (n.2436+49C>A)
c.2307+49C>A (n.2307+49C>A)
 gnomAD v4
3g.38587352C>ACA2665113989SCN5Ac.2436+48G>T (n.2436+48G>T)
c.2307+48G>T (n.2307+48G>T)
 gnomAD v4
3g.38587352C=CA1358578106SCN5Ac.2436+48G= (n.2436+48G=)
c.2307+48G= (n.2307+48G=)
3g.38587352C>GCA2755901604SCN5Ac.2436+48G>C (n.2436+48G>C)
c.2307+48G>C (n.2307+48G>C)
3g.38587352C>TCA72929348SCN5Ac.2436+48G>A (n.2436+48G>A)
c.2307+48G>A (n.2307+48G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38587353C>ACA2665113990SCN5Ac.2436+47G>T (n.2436+47G>T)
c.2307+47G>T (n.2307+47G>T)
 gnomAD v4
3g.38587353C>TCA2665113991SCN5Ac.2436+47G>A (n.2436+47G>A)
c.2307+47G>A (n.2307+47G>A)
 gnomAD v4
3g.38587354T>CCA2665113992SCN5Ac.2436+46A>G (n.2436+46A>G)
c.2307+46A>G (n.2307+46A>G)
 gnomAD v4
3g.38587355T>CCA060442SCN5Ac.2436+45A>G (n.2436+45A>G)
c.2307+45A>G (n.2307+45A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587355T=CA1358578107SCN5Ac.2436+45A= (n.2436+45A=)
c.2307+45A= (n.2307+45A=)
3g.38587356C>ACA2665113993SCN5Ac.2436+44G>T (n.2436+44G>T)
c.2307+44G>T (n.2307+44G>T)
 gnomAD v4
3g.38587356C>TCA2665113994SCN5Ac.2436+44G>A (n.2436+44G>A)
c.2307+44G>A (n.2307+44G>A)
 gnomAD v4
3g.38587357C>ACA2665113995SCN5Ac.2436+43G>T (n.2436+43G>T)
c.2307+43G>T (n.2307+43G>T)
 gnomAD v4
3g.38587357C>GCA2665113996SCN5Ac.2436+43G>C (n.2436+43G>C)
c.2307+43G>C (n.2307+43G>C)
 gnomAD v4
3g.38587357C>TCA2577676493SCN5Ac.2436+43G>A (n.2436+43G>A)
c.2307+43G>A (n.2307+43G>A)
 gnomAD v4
3g.38587359C=CA1358578108SCN5Ac.2436+41G= (n.2436+41G=)
c.2307+41G= (n.2307+41G=)
3g.38587359C>TCA542615722SCN5Ac.2436+41G>A (n.2436+41G>A)
c.2307+41G>A (n.2307+41G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38587360A=CA1358578110SCN5Ac.2436+40T= (n.2436+40T=)
c.2307+40T= (n.2307+40T=)
3g.38587360A>CCA1358578111SCN5Ac.2436+40T>G (n.2436+40T>G)
c.2307+40T>G (n.2307+40T>G)
 dbSNP
3g.38587360A>GCA2577676494SCN5Ac.2436+40T>C (n.2436+40T>C)
c.2307+40T>C (n.2307+40T>C)
3g.38587360_38587363delinsACCCCA1358578109SCN5Ac.2436+37_2436+40delinsGGGT (n.2436+37_2436+40delinsGGGT)
c.2307+37_2307+40delinsGGGT (n.2307+37_2307+40delinsGGGT)
3g.38587361C>ACA542615723SCN5Ac.2436+39G>T (n.2436+39G>T)
c.2307+39G>T (n.2307+39G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587361C=CA1358578112SCN5Ac.2436+39G= (n.2436+39G=)
c.2307+39G= (n.2307+39G=)
3g.38587361C>GCA906859803SCN5Ac.2436+39G>C (n.2436+39G>C)
c.2307+39G>C (n.2307+39G>C)
 dbSNP gnomAD v3 gnomAD v4
3g.38587361C>TCA2665113997SCN5Ac.2436+39G>A (n.2436+39G>A)
c.2307+39G>A (n.2307+39G>A)
 gnomAD v4
3g.38587366dupCA2319558SCN5Ac.2436+39dup (n.2436+39dup)
c.2307+39dup (n.2307+39dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38587366delCA2539576636SCN5Ac.2436+39del (n.2436+39del)
c.2307+39del (n.2307+39del)
 gnomAD v4
3g.38587364_38587366delCA060427SCN5Ac.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
3g.38587362C>ACA2665113999SCN5Ac.2436+38G>T (n.2436+38G>T)
c.2307+38G>T (n.2307+38G>T)
 gnomAD v4
3g.38587368_38587377delCA2665113998SCN5Ac.2436+29_2436+38del (n.2436+29_2436+38del)
c.2307+29_2307+38del (n.2307+29_2307+38del)
 gnomAD v4
3g.38587363C>ACA2665114000SCN5Ac.2436+37G>T (n.2436+37G>T)
c.2307+37G>T (n.2307+37G>T)
 gnomAD v4
3g.38587363C>TCA2577676495SCN5Ac.2436+37G>A (n.2436+37G>A)
c.2307+37G>A (n.2307+37G>A)
 gnomAD v4
3g.38587364C>ACA2577676496SCN5Ac.2436+36G>T (n.2436+36G>T)
c.2307+36G>T (n.2307+36G>T)
 gnomAD v4
3g.38587365C>ACA542615724SCN5Ac.2436+35G>T (n.2436+35G>T)
c.2307+35G>T (n.2307+35G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38587365C=CA1358578113SCN5Ac.2436+35G= (n.2436+35G=)
c.2307+35G= (n.2307+35G=)
3g.38587365C>TCA2577676497SCN5Ac.2436+35G>A (n.2436+35G>A)
c.2307+35G>A (n.2307+35G>A)
 gnomAD v4
3g.38587368_38587370delCA2665114001SCN5Ac.2436+33_2436+35del (n.2436+33_2436+35del)
c.2307+33_2307+35del (n.2307+33_2307+35del)
 gnomAD v4
3g.38587366C>ACA433136216SCN5Ac.2436+34G>T (n.2436+34G>T)
c.2307+34G>T (n.2307+34G>T)
 dbSNP gnomAD v4
3g.38587366C=CA1358578114SCN5Ac.2436+34G= (n.2436+34G=)
c.2307+34G= (n.2307+34G=)
3g.38587366C>GCA542615725SCN5Ac.2436+34G>C (n.2436+34G>C)
c.2307+34G>C (n.2307+34G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587366C>TCA060421SCN5Ac.2436+34G>A (n.2436+34G>A)
c.2307+34G>A (n.2307+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587367A=CA1358578115SCN5Ac.2436+33T= (n.2436+33T=)
c.2307+33T= (n.2307+33T=)
3g.38587367A>GCA906859821SCN5Ac.2436+33T>C (n.2436+33T>C)
c.2307+33T>C (n.2307+33T>C)
 dbSNP gnomAD v4
3g.38587368C>ACA542615726SCN5Ac.2436+32G>T (n.2436+32G>T)
c.2307+32G>T (n.2307+32G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38587368C=CA1358578116SCN5Ac.2436+32G= (n.2436+32G=)
c.2307+32G= (n.2307+32G=)
3g.38587368C>GCA2577676498SCN5Ac.2436+32G>C (n.2436+32G>C)
c.2307+32G>C (n.2307+32G>C)
3g.38587369C>ACA542615727SCN5Ac.2436+31G>T (n.2436+31G>T)
c.2307+31G>T (n.2307+31G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38587369C=CA1358578117SCN5Ac.2436+31G= (n.2436+31G=)
c.2307+31G= (n.2307+31G=)
3g.38587370A=CA1358578118SCN5Ac.2436+30T= (n.2436+30T=)
c.2307+30T= (n.2307+30T=)
3g.38587370A>CCA2665114002SCN5Ac.2436+30T>G (n.2436+30T>G)
c.2307+30T>G (n.2307+30T>G)
 gnomAD v4
3g.38587370A>GCA060416SCN5Ac.2436+30T>C (n.2436+30T>C)
c.2307+30T>C (n.2307+30T>C)
 dbSNP ExAC gnomAD v2
3g.38587372C>ACA2665114004SCN5Ac.2436+28G>T (n.2436+28G>T)
c.2307+28G>T (n.2307+28G>T)
 gnomAD v4
3g.38587372C>GCA2665114005SCN5Ac.2436+28G>C (n.2436+28G>C)
c.2307+28G>C (n.2307+28G>C)
 gnomAD v4
3g.38587376delCA2665114003SCN5Ac.2436+28del (n.2436+28del)
c.2307+28del (n.2307+28del)
 gnomAD v4
3g.38587373C>TCA2665114006SCN5Ac.2436+27G>A (n.2436+27G>A)
c.2307+27G>A (n.2307+27G>A)
 gnomAD v4
3g.38587374C>ACA542615728SCN5Ac.2436+26G>T (n.2436+26G>T)
c.2307+26G>T (n.2307+26G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38587374C=CA1358578119SCN5Ac.2436+26G= (n.2436+26G=)
c.2307+26G= (n.2307+26G=)
3g.38587374C>GCA542615729SCN5Ac.2436+26G>C (n.2436+26G>C)
c.2307+26G>C (n.2307+26G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38587374C>TCA72929366SCN5Ac.2436+26G>A (n.2436+26G>A)
c.2307+26G>A (n.2307+26G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587376C>ACA2665114007SCN5Ac.2436+24G>T (n.2436+24G>T)
c.2307+24G>T (n.2307+24G>T)
 gnomAD v4
3g.38587376C>GCA2755901615SCN5Ac.2436+24G>C (n.2436+24G>C)
c.2307+24G>C (n.2307+24G>C)
3g.38587376C>TCA2665114008SCN5Ac.2436+24G>A (n.2436+24G>A)
c.2307+24G>A (n.2307+24G>A)
 gnomAD v4
3g.38587377A=CA1358578120SCN5Ac.2436+23T= (n.2436+23T=)
c.2307+23T= (n.2307+23T=)
3g.38587377A>GCA542615730SCN5Ac.2436+23T>C (n.2436+23T>C)
c.2307+23T>C (n.2307+23T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587378T>CCA906859832SCN5Ac.2436+22A>G (n.2436+22A>G)
c.2307+22A>G (n.2307+22A>G)
 dbSNP gnomAD v4
3g.38587378T=CA1358578121SCN5Ac.2436+22A= (n.2436+22A=)
c.2307+22A= (n.2307+22A=)
3g.38587379G>ACA2665114009SCN5Ac.2436+21C>T (n.2436+21C>T)
c.2307+21C>T (n.2307+21C>T)
 gnomAD v4
3g.38587380C>ACA2665114011SCN5Ac.2436+20G>T (n.2436+20G>T)
c.2307+20G>T (n.2307+20G>T)
 gnomAD v4
3g.38587380C>GCA2665114010SCN5Ac.2436+20G>C (n.2436+20G>C)
c.2307+20G>C (n.2307+20G>C)
 gnomAD v4
3g.38587381A>CCA2665114012SCN5Ac.2436+19T>G (n.2436+19T>G)
c.2307+19T>G (n.2307+19T>G)
 gnomAD v4
3g.38587381A>GCA2697550831SCN5Ac.2436+19T>C (n.2436+19T>C)
c.2307+19T>C (n.2307+19T>C)
 ClinVar
3g.38587382G>ACA906859837SCN5Ac.2436+18C>T (n.2436+18C>T)
c.2307+18C>T (n.2307+18C>T)
 dbSNP
3g.38587382G=CA1358578122SCN5Ac.2436+18C= (n.2436+18C=)
c.2307+18C= (n.2307+18C=)
3g.38587383T>CCA060411SCN5Ac.2436+17A>G (n.2436+17A>G)
c.2307+17A>G (n.2307+17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587383T=CA1358578123SCN5Ac.2436+17A= (n.2436+17A=)
c.2307+17A= (n.2307+17A=)
3g.38587384G>TCA2577676499SCN5Ac.2436+16C>A (n.2436+16C>A)
c.2307+16C>A (n.2307+16C>A)
3g.38587385G>ACA060408SCN5Ac.2436+15C>T (n.2436+15C>T)
c.2307+15C>T (n.2307+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587385G=CA1358578124SCN5Ac.2436+15C= (n.2436+15C=)
c.2307+15C= (n.2307+15C=)
3g.38587386G>ACA542615731SCN5Ac.2436+14C>T (n.2436+14C>T)
c.2307+14C>T (n.2307+14C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38587386G>CCA72929374SCN5Ac.2436+14C>G (n.2436+14C>G)
c.2307+14C>G (n.2307+14C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587386G=CA1358578125SCN5Ac.2436+14C= (n.2436+14C=)
c.2307+14C= (n.2307+14C=)
3g.38587387T>ACA2577676500SCN5Ac.2436+13A>T (n.2436+13A>T)
c.2307+13A>T (n.2307+13A>T)
3g.38587388C>ACA2665114013SCN5Ac.2436+12G>T (n.2436+12G>T)
c.2307+12G>T (n.2307+12G>T)
 gnomAD v4
3g.38587388C=CA1358578126SCN5Ac.2436+12G= (n.2436+12G=)
c.2307+12G= (n.2307+12G=)
3g.38587388C>TCA016146SCN5Ac.2436+12G>A (n.2436+12G>A)
c.2307+12G>A (n.2307+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587389C=CA1358578127SCN5Ac.2436+11G= (n.2436+11G=)
c.2307+11G= (n.2307+11G=)
3g.38587389C>TCA1358578128SCN5Ac.2436+11G>A (n.2436+11G>A)
c.2307+11G>A (n.2307+11G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38587390A=CA1358578129SCN5Ac.2436+10T= (n.2436+10T=)
c.2307+10T= (n.2307+10T=)
3g.38587390A>CCA060396SCN5Ac.2436+10T>G (n.2436+10T>G)
c.2307+10T>G (n.2307+10T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587391G>ACA2665114014SCN5Ac.2436+9C>T (n.2436+9C>T)
c.2307+9C>T (n.2307+9C>T)
 gnomAD v4
3g.38587394A=CA1358578130SCN5Ac.2436+6T= (n.2436+6T=)
c.2307+6T= (n.2307+6T=)
3g.38587394A>GCA060455SCN5Ac.2436+6T>C (n.2436+6T>C)
c.2307+6T>C (n.2307+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587395G>ACA2665114015SCN5Ac.2436+5C>T (n.2436+5C>T)
c.2307+5C>T (n.2307+5C>T)
 gnomAD v4
3g.38587395G=CA1358578131SCN5Ac.2436+5C= (n.2436+5C=)
c.2307+5C= (n.2307+5C=)
3g.38587395G>TCA060448SCN5Ac.2436+5C>A (n.2436+5C>A)
c.2307+5C>A (n.2307+5C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587396G>ACA2665114016SCN5Ac.2436+4C>T (n.2436+4C>T)
c.2307+4C>T (n.2307+4C>T)
 gnomAD v4
3g.38587396G=CA1358578132SCN5Ac.2436+4C= (n.2436+4C=)
c.2307+4C= (n.2307+4C=)
3g.38587396G>TCA1358578133SCN5Ac.2436+4C>A (n.2436+4C>A)
c.2307+4C>A (n.2307+4C>A)
 dbSNP
3g.38587397_38587401delinsAGGCGCA2586972028SCN5Ac.2435_2436+3delinsCGCCT
c.2306_2307+3delinsCGCCT
3g.38587398A>CCA352143176SCN5Ac.2436+2T>G (n.2436+2T>G)
c.2307+2T>G (n.2307+2T>G)
3g.38587398A>GCA352143177SCN5Ac.2436+2T>C (n.2436+2T>C)
c.2307+2T>C (n.2307+2T>C)
3g.38587398A>TCA352143178SCN5Ac.2436+2T>A (n.2436+2T>A)
c.2307+2T>A (n.2307+2T>A)
3g.38587399C>ACA352143180SCN5Ac.2436+1G>T (n.2436+1G>T)
c.2307+1G>T (n.2307+1G>T)
3g.38587399C=CA1358578134SCN5Ac.2436+1G= (n.2436+1G=)
c.2307+1G= (n.2307+1G=)
3g.38587399C>GCA352143181SCN5Ac.2436+1G>C (n.2436+1G>C)
c.2307+1G>C (n.2307+1G>C)
 dbSNP
3g.38587399C>TCA352143179SCN5Ac.2436+1G>A (n.2436+1G>A)
c.2307+1G>A (n.2307+1G>A)
3g.38587400C>ACA433136217SCN5Ac.2436G>T (p.Leu812=)
c.2307G>T (p.Leu769=)
3g.38587400C>GCA433136218SCN5Ac.2436G>C (p.Leu812=)
c.2307G>C (p.Leu769=)
3g.38587400C>TCA433136219SCN5Ac.2436G>A (p.Leu812=)
c.2307G>A (p.Leu769=)
 ClinVar
3g.38587401A>CCA352143182SCN5Ac.2435T>G (p.Leu812Arg)
c.2306T>G (p.Leu769Arg)
3g.38587401A>GCA352143183SCN5Ac.2435T>C (p.Leu812Pro)
c.2306T>C (p.Leu769Pro)
 ClinVar
3g.38587401A>TCA352143184SCN5Ac.2435T>A (p.Leu812Gln)
c.2306T>A (p.Leu769Gln)
3g.38587402G>ACA433136220SCN5Ac.2434C>T (p.Leu812=)
c.2305C>T (p.Leu769=)
3g.38587402G>CCA352143185SCN5Ac.2434C>G (p.Leu812Val)
c.2305C>G (p.Leu769Val)
3g.38587402G>TCA352143186SCN5Ac.2434C>A (p.Leu812Met)
c.2305C>A (p.Leu769Met)
3g.38587403G>ACA433136221SCN5Ac.2433C>T (p.Arg811=)
c.2304C>T (p.Arg768=)
 ClinVar gnomAD v4
3g.38587403G>CCA433136222SCN5Ac.2433C>G (p.Arg811=)
c.2304C>G (p.Arg768=)
3g.38587403G>TCA433136223SCN5Ac.2433C>A (p.Arg811=)
c.2304C>A (p.Arg768=)
3g.38587404C>ACA352143188SCN5Ac.2432G>T (p.Arg811Leu)
c.2303G>T (p.Arg768Leu)
 ClinVar
3g.38587404C=CA1358578135SCN5Ac.2432G= (p.Arg811=)
c.2303G= (p.Arg768=)
3g.38587404C>GCA352143187SCN5Ac.2432G>C (p.Arg811Pro)
c.2303G>C (p.Arg768Pro)
3g.38587404C>TCA060390SCN5Ac.2432G>A (p.Arg811His)
c.2303G>A (p.Arg768His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38587405G>ACA016138SCN5Ac.2431C>T (p.Arg811Cys)
c.2302C>T (p.Arg768Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38587405G>CCA352143189SCN5Ac.2431C>G (p.Arg811Gly)
c.2302C>G (p.Arg768Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.38587405G=CA1358578136SCN5Ac.2431C= (p.Arg811=)
c.2302C= (p.Arg768=)
3g.38587405G>TCA352143190SCN5Ac.2431C>A (p.Arg811Ser)
c.2302C>A (p.Arg768Ser)
3g.38587406G>ACA433136227SCN5Ac.2430C>T (p.Phe810=)
c.2301C>T (p.Phe767=)
3g.38587406G>CCA352143191SCN5Ac.2430C>G (p.Phe810Leu)
c.2301C>G (p.Phe767Leu)
3g.38587406G>TCA352143192SCN5Ac.2430C>A (p.Phe810Leu)
c.2301C>A (p.Phe767Leu)
3g.38587407A>CCA352143193SCN5Ac.2429T>G (p.Phe810Cys)
c.2300T>G (p.Phe767Cys)
3g.38587407A>GCA352143195SCN5Ac.2429T>C (p.Phe810Ser)
c.2300T>C (p.Phe767Ser)
3g.38587407A>TCA352143194SCN5Ac.2429T>A (p.Phe810Tyr)
c.2300T>A (p.Phe767Tyr)
3g.38587410_38587427delCA2586972029SCN5Ac.2412_2429del (p.Leu804_Ser809del)
c.2283_2300del (p.Leu761_Ser766del)
 gnomAD v4
3g.38587408A>CCA352143196SCN5Ac.2428T>G (p.Phe810Val)
c.2299T>G (p.Phe767Val)
3g.38587408A>GCA352143197SCN5Ac.2428T>C (p.Phe810Leu)
c.2299T>C (p.Phe767Leu)
3g.38587408A>TCA352143198SCN5Ac.2428T>A (p.Phe810Ile)
c.2299T>A (p.Phe767Ile)
3g.38587409G>ACA433136229SCN5Ac.2427C>T (p.Ser809=)
c.2298C>T (p.Ser766=)
 dbSNP gnomAD v2 gnomAD v4
3g.38587409G>CCA433136230SCN5Ac.2427C>G (p.Ser809=)
c.2298C>G (p.Ser766=)
3g.38587409G=CA1358578137SCN5Ac.2427C= (p.Ser809=)
c.2298C= (p.Ser766=)
3g.38587409G>TCA433136231SCN5Ac.2427C>A (p.Ser809=)
c.2298C>A (p.Ser766=)
3g.38587410G>ACA352143199SCN5Ac.2426C>T (p.Ser809Phe)
c.2297C>T (p.Ser766Phe)
3g.38587410G>CCA352143200SCN5Ac.2426C>G (p.Ser809Cys)
c.2297C>G (p.Ser766Cys)
3g.38587410G>TCA352143201SCN5Ac.2426C>A (p.Ser809Tyr)
c.2297C>A (p.Ser766Tyr)
3g.38587411A>CCA352143202SCN5Ac.2425T>G (p.Ser809Ala)
c.2296T>G (p.Ser766Ala)
3g.38587411A>GCA352143203SCN5Ac.2425T>C (p.Ser809Pro)
c.2296T>C (p.Ser766Pro)
3g.38587411A>TCA352143204SCN5Ac.2425T>A (p.Ser809Thr)
c.2296T>A (p.Ser766Thr)
3g.38587412G>ACA433136234SCN5Ac.2424C>T (p.Arg808=)
c.2295C>T (p.Arg765=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587412G>CCA433136232SCN5Ac.2424C>G (p.Arg808=)
c.2295C>G (p.Arg765=)
3g.38587412G=CA1358578138SCN5Ac.2424C= (p.Arg808=)
c.2295C= (p.Arg765=)
3g.38587412G>TCA433136233SCN5Ac.2424C>A (p.Arg808=)
c.2295C>A (p.Arg765=)
3g.38587413C>ACA352143205SCN5Ac.2423G>T (p.Arg808Leu)
c.2294G>T (p.Arg765Leu)
3g.38587413C=CA1358578139SCN5Ac.2423G= (p.Arg808=)
c.2294G= (p.Arg765=)
3g.38587413C>GCA016130SCN5Ac.2423G>C (p.Arg808Pro)
c.2294G>C (p.Arg765Pro)
 ClinVar dbSNP
3g.38587413C>TCA016124SCN5Ac.2423G>A (p.Arg808His)
c.2294G>A (p.Arg765His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38587414G>ACA060381SCN5Ac.2422C>T (p.Arg808Cys)
c.2293C>T (p.Arg765Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587414G>CCA352143207SCN5Ac.2422C>G (p.Arg808Gly)
c.2293C>G (p.Arg765Gly)
3g.38587414G=CA1358578140SCN5Ac.2422C= (p.Arg808=)
c.2293C= (p.Arg765=)
3g.38587414G>TCA352143206SCN5Ac.2422C>A (p.Arg808Ser)
c.2293C>A (p.Arg765Ser)
3g.38587415C>ACA433136236SCN5Ac.2421G>T (p.Leu807=)
c.2292G>T (p.Leu764=)
3g.38587415C>GCA433136237SCN5Ac.2421G>C (p.Leu807=)
c.2292G>C (p.Leu764=)
3g.38587415C>TCA433136238SCN5Ac.2421G>A (p.Leu807=)
c.2292G>A (p.Leu764=)
3g.38587416A=CA1358578141SCN5Ac.2420T= (p.Leu807=)
c.2291T= (p.Leu764=)
3g.38587416A>CCA352143209SCN5Ac.2420T>G (p.Leu807Arg)
c.2291T>G (p.Leu764Arg)
3g.38587416A>GCA16617951SCN5Ac.2420T>C (p.Leu807Pro)
c.2291T>C (p.Leu764Pro)
 ClinVar dbSNP
3g.38587416A>TCA352143208SCN5Ac.2420T>A (p.Leu807Gln)
c.2291T>A (p.Leu764Gln)
3g.38587417G>ACA433136240SCN5Ac.2419C>T (p.Leu807=)
c.2290C>T (p.Leu764=)
3g.38587417G>CCA352143210SCN5Ac.2419C>G (p.Leu807Val)
c.2290C>G (p.Leu764Val)
3g.38587417G>TCA352143211SCN5Ac.2419C>A (p.Leu807Met)
c.2290C>A (p.Leu764Met)
3g.38587418C>ACA433136243SCN5Ac.2418G>T (p.Val806=)
c.2289G>T (p.Val763=)
3g.38587418C>GCA433136245SCN5Ac.2418G>C (p.Val806=)
c.2289G>C (p.Val763=)
3g.38587418C>TCA433136244SCN5Ac.2418G>A (p.Val806=)
c.2289G>A (p.Val763=)
3g.38587419A>CCA352143212SCN5Ac.2417T>G (p.Val806Gly)
c.2288T>G (p.Val763Gly)
 ClinVar gnomAD v4
3g.38587419A>GCA352143213SCN5Ac.2417T>C (p.Val806Ala)
c.2288T>C (p.Val763Ala)
3g.38587419A>TCA352143214SCN5Ac.2417T>A (p.Val806Glu)
c.2288T>A (p.Val763Glu)
3g.38587420C>ACA352143215SCN5Ac.2416G>T (p.Val806Leu)
c.2287G>T (p.Val763Leu)
3g.38587420C=CA1358578142SCN5Ac.2416G= (p.Val806=)
c.2287G= (p.Val763=)
3g.38587420C>GCA352143216SCN5Ac.2416G>C (p.Val806Leu)
c.2287G>C (p.Val763Leu)
3g.38587420C>TCA060376SCN5Ac.2416G>A (p.Val806Met)
c.2287G>A (p.Val763Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587421C>ACA433136248SCN5Ac.2415G>T (p.Ser805=)
c.2286G>T (p.Ser762=)
3g.38587421C=CA1358578143SCN5Ac.2415G= (p.Ser805=)
c.2286G= (p.Ser762=)
3g.38587421C>GCA060370SCN5Ac.2415G>C (p.Ser805=)
c.2286G>C (p.Ser762=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587421C>TCA060365SCN5Ac.2415G>A (p.Ser805=)
c.2286G>A (p.Ser762=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38587422G>ACA060361SCN5Ac.2414C>T (p.Ser805Leu)
c.2285C>T (p.Ser762Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587422G>CCA352143217SCN5Ac.2414C>G (p.Ser805Trp)
c.2285C>G (p.Ser762Trp)
3g.38587422G=CA1358578144SCN5Ac.2414C= (p.Ser805=)
c.2285C= (p.Ser762=)
3g.38587422G>TCA352143218SCN5Ac.2414C>A (p.Ser805Ter)
c.2285C>A (p.Ser762Ter)
 dbSNP
3g.38587423A>CCA352143219SCN5Ac.2413T>G (p.Ser805Ala)
c.2284T>G (p.Ser762Ala)
3g.38587423A>GCA352143220SCN5Ac.2413T>C (p.Ser805Pro)
c.2284T>C (p.Ser762Pro)
3g.38587423A>TCA352143221SCN5Ac.2413T>A (p.Ser805Thr)
c.2284T>A (p.Ser762Thr)
 gnomAD v4
3g.38587424C>ACA352143222SCN5Ac.2412G>T (p.Leu804Phe)
c.2283G>T (p.Leu761Phe)
3g.38587424C>GCA352143223SCN5Ac.2412G>C (p.Leu804Phe)
c.2283G>C (p.Leu761Phe)
3g.38587424C>TCA433136250SCN5Ac.2412G>A (p.Leu804=)
c.2283G>A (p.Leu761=)
3g.38587425A=CA1358578145SCN5Ac.2411T= (p.Leu804=)
c.2282T= (p.Leu761=)
3g.38587425A>CCA352143224SCN5Ac.2411T>G (p.Leu804Trp)
c.2282T>G (p.Leu761Trp)
3g.38587425A>GCA352143225SCN5Ac.2411T>C (p.Leu804Ser)
c.2282T>C (p.Leu761Ser)
3g.38587425A>TCA352143226SCN5Ac.2411T>A (p.Leu804Ter)
c.2282T>A (p.Leu761Ter)
 dbSNP
3g.38587426A=CA1358578146SCN5Ac.2410T= (p.Leu804=)
c.2281T= (p.Leu761=)
3g.38587426A>CCA352143227SCN5Ac.2410T>G (p.Leu804Val)
c.2281T>G (p.Leu761Val)
 gnomAD v4
3g.38587426A>GCA433136252SCN5Ac.2410T>C (p.Leu804=)
c.2281T>C (p.Leu761=)
 gnomAD v4
3g.38587426A>TCA352143228SCN5Ac.2410T>A (p.Leu804Met)
c.2281T>A (p.Leu761Met)
 dbSNP
3g.38587427G>ACA433136253SCN5Ac.2409C>T (p.Asn803=)
c.2280C>T (p.Asn760=)
3g.38587427G>CCA352143229SCN5Ac.2409C>G (p.Asn803Lys)
c.2280C>G (p.Asn760Lys)
3g.38587427G>TCA352143230SCN5Ac.2409C>A (p.Asn803Lys)
c.2280C>A (p.Asn760Lys)
3g.38587428T>ACA352143232SCN5Ac.2408A>T (p.Asn803Ile)
c.2279A>T (p.Asn760Ile)
3g.38587428T>CCA352143233SCN5Ac.2408A>G (p.Asn803Ser)
c.2279A>G (p.Asn760Ser)
 dbSNP
3g.38587428T>GCA352143231SCN5Ac.2408A>C (p.Asn803Thr)
c.2279A>C (p.Asn760Thr)
3g.38587428T=CA1358578147SCN5Ac.2408A= (p.Asn803=)
c.2279A= (p.Asn760=)
3g.38587428_38587435delinsGACA2586972030SCN5Ac.2401_2408delinsTC (p.Met801_Asn803delinsSer)
c.2272_2279delinsTC (p.Met758_Asn760delinsSer)
3g.38587429T>ACA352143234SCN5Ac.2407A>T (p.Asn803Tyr)
c.2278A>T (p.Asn760Tyr)
3g.38587429T>CCA352143235SCN5Ac.2407A>G (p.Asn803Asp)
c.2278A>G (p.Asn760Asp)
3g.38587429T>GCA352143236SCN5Ac.2407A>C (p.Asn803His)
c.2278A>C (p.Asn760His)
 dbSNP
3g.38587429T=CA1358578148SCN5Ac.2407A= (p.Asn803=)
c.2278A= (p.Asn760=)
3g.38587430G>ACA433136254SCN5Ac.2406C>T (p.Ser802=)
c.2277C>T (p.Ser759=)
3g.38587430G>CCA352143237SCN5Ac.2406C>G (p.Ser802Arg)
c.2277C>G (p.Ser759Arg)
3g.38587430G>TCA352143238SCN5Ac.2406C>A (p.Ser802Arg)
c.2277C>A (p.Ser759Arg)
 gnomAD v4
3g.38587431C>ACA352143241SCN5Ac.2405G>T (p.Ser802Ile)
c.2276G>T (p.Ser759Ile)
3g.38587431C>GCA352143240SCN5Ac.2405G>C (p.Ser802Thr)
c.2276G>C (p.Ser759Thr)
3g.38587431C>TCA352143239SCN5Ac.2405G>A (p.Ser802Asn)
c.2276G>A (p.Ser759Asn)
 gnomAD v4
3g.38587432T>ACA352143242SCN5Ac.2404A>T (p.Ser802Cys)
c.2275A>T (p.Ser759Cys)
3g.38587432T>CCA352143243SCN5Ac.2404A>G (p.Ser802Gly)
c.2275A>G (p.Ser759Gly)
3g.38587432T>GCA352143244SCN5Ac.2404A>C (p.Ser802Arg)
c.2275A>C (p.Ser759Arg)
3g.38587433C>ACA352143245SCN5Ac.2403G>T (p.Met801Ile)
c.2274G>T (p.Met758Ile)
3g.38587433C=CA1358578149SCN5Ac.2403G= (p.Met801=)
c.2274G= (p.Met758=)
3g.38587433C>GCA352143246SCN5Ac.2403G>C (p.Met801Ile)
c.2274G>C (p.Met758Ile)
 ClinVar dbSNP
3g.38587433C>TCA352143247SCN5Ac.2403G>A (p.Met801Ile)
c.2274G>A (p.Met758Ile)
 ClinVar dbSNP gnomAD v4
3g.38587434A>CCA352143248SCN5Ac.2402T>G (p.Met801Arg)
c.2273T>G (p.Met758Arg)
3g.38587434A>GCA352143250SCN5Ac.2402T>C (p.Met801Thr)
c.2273T>C (p.Met758Thr)
3g.38587434A>TCA352143249SCN5Ac.2402T>A (p.Met801Lys)
c.2273T>A (p.Met758Lys)
3g.38587435T>ACA352143251SCN5Ac.2401A>T (p.Met801Leu)
c.2272A>T (p.Met758Leu)
 dbSNP
3g.38587435T>CCA352143252SCN5Ac.2401A>G (p.Met801Val)
c.2272A>G (p.Met758Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38587435T>GCA352143253SCN5Ac.2401A>C (p.Met801Leu)
c.2272A>C (p.Met758Leu)
 ClinVar
3g.38587435T=CA1358578150SCN5Ac.2401A= (p.Met801=)
c.2272A= (p.Met758=)
3g.38587436G>ACA433136256SCN5Ac.2400C>T (p.Arg800=)
c.2271C>T (p.Arg757=)
 dbSNP
3g.38587436G>CCA433136257SCN5Ac.2400C>G (p.Arg800=)
c.2271C>G (p.Arg757=)
3g.38587436G=CA1358578151SCN5Ac.2400C= (p.Arg800=)
c.2271C= (p.Arg757=)
3g.38587436G>TCA433136258SCN5Ac.2400C>A (p.Arg800=)
c.2271C>A (p.Arg757=)
3g.38587437C>ACA060340SCN5Ac.2399G>T (p.Arg800Leu)
c.2270G>T (p.Arg757Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38587437C=CA1358578152SCN5Ac.2399G= (p.Arg800=)
c.2270G= (p.Arg757=)
3g.38587437C>GCA352143254SCN5Ac.2399G>C (p.Arg800Pro)
c.2270G>C (p.Arg757Pro)
3g.38587437C>TCA060332SCN5Ac.2399G>A (p.Arg800His)
c.2270G>A (p.Arg757His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587438G>ACA060327SCN5Ac.2398C>T (p.Arg800Cys)
c.2269C>T (p.Arg757Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38587438G>CCA352143255SCN5Ac.2398C>G (p.Arg800Gly)
c.2269C>G (p.Arg757Gly)
 dbSNP
3g.38587438G=CA1358578153SCN5Ac.2398C= (p.Arg800=)
c.2269C= (p.Arg757=)
3g.38587438G>TCA352143256SCN5Ac.2398C>A (p.Arg800Ser)
c.2269C>A (p.Arg757Ser)
3g.38587439G>ACA433136262SCN5Ac.2397C>T (p.Ser799=)
c.2268C>T (p.Ser756=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38587439G>CCA433136263SCN5Ac.2397C>G (p.Ser799=)
c.2268C>G (p.Ser756=)
 ClinVar
3g.38587439G=CA1358578154SCN5Ac.2397C= (p.Ser799=)
c.2268C= (p.Ser756=)
3g.38587439G>TCA433136264SCN5Ac.2397C>A (p.Ser799=)
c.2268C>A (p.Ser756=)
 COSMIC COSMIC COSMIC
3g.38587440G>ACA352143257SCN5Ac.2396C>T (p.Ser799Phe)
c.2267C>T (p.Ser756Phe)
 dbSNP gnomAD v4
3g.38587440G>CCA352143258SCN5Ac.2396C>G (p.Ser799Cys)
c.2267C>G (p.Ser756Cys)
3g.38587440G=CA1358578155SCN5Ac.2396C= (p.Ser799=)
c.2267C= (p.Ser756=)
3g.38587440G>TCA352143259SCN5Ac.2396C>A (p.Ser799Tyr)
c.2267C>A (p.Ser756Tyr)
 ClinVar dbSNP
3g.38587441A>CCA352143262SCN5Ac.2395T>G (p.Ser799Ala)
c.2266T>G (p.Ser756Ala)
3g.38587441A>GCA352143261SCN5Ac.2395T>C (p.Ser799Pro)
c.2266T>C (p.Ser756Pro)
 gnomAD v4
3g.38587441A>TCA352143260SCN5Ac.2395T>A (p.Ser799Thr)
c.2266T>A (p.Ser756Thr)
3g.38587442C>ACA433136265SCN5Ac.2394G>T (p.Leu798=)
c.2265G>T (p.Leu755=)
3g.38587442C>GCA433136266SCN5Ac.2394G>C (p.Leu798=)
c.2265G>C (p.Leu755=)
3g.38587442C>TCA433136267SCN5Ac.2394G>A (p.Leu798=)
c.2265G>A (p.Leu755=)
3g.38587442_38587443delinsCACA1358578156SCN5Ac.2393_2394delinsTG (p.Leu798=)
c.2264_2265delinsTG (p.Leu755=)
3g.38587443delCA1358578157SCN5Ac.2393del (p.Leu798ArgfsTer4)
c.2264del (p.Leu755ArgfsTer4)
 dbSNP gnomAD v4
3g.38587443A>CCA352143263SCN5Ac.2393T>G (p.Leu798Arg)
c.2264T>G (p.Leu755Arg)
3g.38587443A>GCA352143264SCN5Ac.2393T>C (p.Leu798Pro)
c.2264T>C (p.Leu755Pro)
3g.38587443A>TCA352143265SCN5Ac.2393T>A (p.Leu798Gln)
c.2264T>A (p.Leu755Gln)
3g.38587444G>ACA433136269SCN5Ac.2392C>T (p.Leu798=)
c.2263C>T (p.Leu755=)
 COSMIC COSMIC COSMIC
3g.38587444G>CCA352143266SCN5Ac.2392C>G (p.Leu798Val)
c.2263C>G (p.Leu755Val)
3g.38587444G>TCA352143267SCN5Ac.2392C>A (p.Leu798Met)
c.2263C>A (p.Leu755Met)
3g.38587445G>ACA433136271SCN5Ac.2391C>T (p.Gly797=)
c.2262C>T (p.Gly754=)
3g.38587445G>CCA433136272SCN5Ac.2391C>G (p.Gly797=)
c.2262C>G (p.Gly754=)
3g.38587445G>TCA433136273SCN5Ac.2391C>A (p.Gly797=)
c.2262C>A (p.Gly754=)
 gnomAD v4
3g.38587446C>ACA72929420SCN5Ac.2390G>T (p.Gly797Val)
c.2261G>T (p.Gly754Val)
 ClinVar dbSNP gnomAD v4
3g.38587446C=CA1358578158SCN5Ac.2390G= (p.Gly797=)
c.2261G= (p.Gly754=)
3g.38587446C>GCA352143268SCN5Ac.2390G>C (p.Gly797Ala)
c.2261G>C (p.Gly754Ala)
 ClinVar dbSNP
3g.38587446C>TCA352143269SCN5Ac.2390G>A (p.Gly797Asp)
c.2261G>A (p.Gly754Asp)
 ClinVar dbSNP gnomAD v4
3g.38587447C>ACA352143270SCN5Ac.2389G>T (p.Gly797Cys)
c.2260G>T (p.Gly754Cys)
3g.38587447C>GCA352143271SCN5Ac.2389G>C (p.Gly797Arg)
c.2260G>C (p.Gly754Arg)
3g.38587447C>TCA352143272SCN5Ac.2389G>A (p.Gly797Ser)
c.2260G>A (p.Gly754Ser)

Number of alleles fetched