Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38613692G>ACA2665116239SCN5Ac.703+51C>T (n.703+51C>T)
c.703+283C>T (n.703+283C>T)
c.574+51C>T (n.574+51C>T)
 gnomAD v4
3g.38613692G>CCA2665116240SCN5Ac.703+51C>G (n.703+51C>G)
c.703+283C>G (n.703+283C>G)
c.574+51C>G (n.574+51C>G)
 gnomAD v4
3g.38613692G>TCA2577553617SCN5Ac.703+51C>A (n.703+51C>A)
c.703+283C>A (n.703+283C>A)
c.574+51C>A (n.574+51C>A)
3g.38613693delCA2665116238SCN5Ac.703+51del (n.703+51del)
c.703+283del (n.703+283del)
c.574+51del (n.574+51del)
 gnomAD v4
3g.38613693G>ACA542273930SCN5Ac.703+50C>T (n.703+50C>T)
c.703+282C>T (n.703+282C>T)
c.574+50C>T (n.574+50C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38613693G=CA1358589322SCN5Ac.703+50C= (n.703+50C=)
c.703+282C= (n.703+282C=)
c.574+50C= (n.574+50C=)
3g.38613696delCA2665116241SCN5Ac.703+49del (n.703+49del)
c.703+281del (n.703+281del)
c.574+49del (n.574+49del)
 gnomAD v4
3g.38613697G>ACA542273931SCN5Ac.703+46C>T (n.703+46C>T)
c.703+278C>T (n.703+278C>T)
c.574+46C>T (n.574+46C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38613697G=CA1358589323SCN5Ac.703+46C= (n.703+46C=)
c.703+278C= (n.703+278C=)
c.574+46C= (n.574+46C=)
3g.38613697G>TCA542273932SCN5Ac.703+46C>A (n.703+46C>A)
c.703+278C>A (n.703+278C>A)
c.574+46C>A (n.574+46C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613698delCA2665116242SCN5Ac.703+46del (n.703+46del)
c.703+278del (n.703+278del)
c.574+46del (n.574+46del)
 gnomAD v4
3g.38613698G>ACA2581867705SCN5Ac.703+45C>T (n.703+45C>T)
c.703+277C>T (n.703+277C>T)
c.574+45C>T (n.574+45C>T)
3g.38613698G>CCA2581867704SCN5Ac.703+45C>G (n.703+45C>G)
c.703+277C>G (n.703+277C>G)
c.574+45C>G (n.574+45C>G)
3g.38613698G=CA1358589324SCN5Ac.703+45C= (n.703+45C=)
c.703+277C= (n.703+277C=)
c.574+45C= (n.574+45C=)
3g.38613698G>TCA065563SCN5Ac.703+45C>A (n.703+45C>A)
c.703+277C>A (n.703+277C>A)
c.574+45C>A (n.574+45C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613699C>ACA2665116243SCN5Ac.703+44G>T (n.703+44G>T)
c.703+276G>T (n.703+276G>T)
c.574+44G>T (n.574+44G>T)
 gnomAD v4
3g.38613701C=CA1358589325SCN5Ac.703+42G= (n.703+42G=)
c.703+274G= (n.703+274G=)
c.574+42G= (n.574+42G=)
3g.38613701C>TCA542273933SCN5Ac.703+42G>A (n.703+42G>A)
c.703+274G>A (n.703+274G>A)
c.574+42G>A (n.574+42G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38613702A>GCA2577553618SCN5Ac.703+41T>C (n.703+41T>C)
c.703+273T>C (n.703+273T>C)
c.574+41T>C (n.574+41T>C)
3g.38613703G>ACA2577553619SCN5Ac.703+40C>T (n.703+40C>T)
c.703+272C>T (n.703+272C>T)
c.574+40C>T (n.574+40C>T)
3g.38613703G>CCA065559SCN5Ac.703+40C>G (n.703+40C>G)
c.703+272C>G (n.703+272C>G)
c.574+40C>G (n.574+40C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613703G=CA1358589326SCN5Ac.703+40C= (n.703+40C=)
c.703+272C= (n.703+272C=)
c.574+40C= (n.574+40C=)
3g.38613703G>TCA2577553620SCN5Ac.703+40C>A (n.703+40C>A)
c.703+272C>A (n.703+272C>A)
c.574+40C>A (n.574+40C>A)
 gnomAD v4
3g.38613704G>TCA2665116244SCN5Ac.703+39C>A (n.703+39C>A)
c.703+271C>A (n.703+271C>A)
c.574+39C>A (n.574+39C>A)
 gnomAD v4
3g.38613705C>ACA542273934SCN5Ac.703+38G>T (n.703+38G>T)
c.703+270G>T (n.703+270G>T)
c.574+38G>T (n.574+38G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38613705C=CA1358589327SCN5Ac.703+38G= (n.703+38G=)
c.703+270G= (n.703+270G=)
c.574+38G= (n.574+38G=)
3g.38613706A>GCA2577553621SCN5Ac.703+37T>C (n.703+37T>C)
c.703+269T>C (n.703+269T>C)
c.574+37T>C (n.574+37T>C)
 dbSNP gnomAD v4
3g.38613707T>ACA2577553622SCN5Ac.703+36A>T (n.703+36A>T)
c.703+268A>T (n.703+268A>T)
c.574+36A>T (n.574+36A>T)
3g.38613707T>CCA2665116245SCN5Ac.703+36A>G (n.703+36A>G)
c.703+268A>G (n.703+268A>G)
c.574+36A>G (n.574+36A>G)
 gnomAD v4
3g.38613708A=CA1358589328SCN5Ac.703+35T= (n.703+35T=)
c.703+267T= (n.703+267T=)
c.574+35T= (n.574+35T=)
3g.38613708A>GCA1358589329SCN5Ac.703+35T>C (n.703+35T>C)
c.703+267T>C (n.703+267T>C)
c.574+35T>C (n.574+35T>C)
 dbSNP gnomAD v4
3g.38613709T>CCA2577553623SCN5Ac.703+34A>G (n.703+34A>G)
c.703+266A>G (n.703+266A>G)
c.574+34A>G (n.574+34A>G)
 gnomAD v4
3g.38613709T=CA1358589330SCN5Ac.703+34A= (n.703+34A=)
c.703+266A= (n.703+266A=)
c.574+34A= (n.574+34A=)
3g.38613710C>ACA2665116246SCN5Ac.703+33G>T (n.703+33G>T)
c.703+265G>T (n.703+265G>T)
c.574+33G>T (n.574+33G>T)
 gnomAD v4
3g.38613711_38613712dupCA2319566SCN5Ac.703+32_703+33dup (n.703+32_703+33dup)
c.703+264_703+265dup (n.703+264_703+265dup)
c.574+32_574+33dup (n.574+32_574+33dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613711C=CA1358589331SCN5Ac.703+32G= (n.703+32G=)
c.703+264G= (n.703+264G=)
c.574+32G= (n.574+32G=)
3g.38613711C>TCA065557SCN5Ac.703+32G>A (n.703+32G>A)
c.703+264G>A (n.703+264G>A)
c.574+32G>A (n.574+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613712C=CA1358589332SCN5Ac.703+31G= (n.703+31G=)
c.703+263G= (n.703+263G=)
c.574+31G= (n.574+31G=)
3g.38613712C>GCA906901706SCN5Ac.703+31G>C (n.703+31G>C)
c.703+263G>C (n.703+263G>C)
c.574+31G>C (n.574+31G>C)
 dbSNP
3g.38613712C>TCA542273935SCN5Ac.703+31G>A (n.703+31G>A)
c.703+263G>A (n.703+263G>A)
c.574+31G>A (n.574+31G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613714C=CA1358589333SCN5Ac.703+29G= (n.703+29G=)
c.703+261G= (n.703+261G=)
c.574+29G= (n.574+29G=)
3g.38613714C>GCA065553SCN5Ac.703+29G>C (n.703+29G>C)
c.703+261G>C (n.703+261G>C)
c.574+29G>C (n.574+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613715T>CCA2577553624SCN5Ac.703+28A>G (n.703+28A>G)
c.703+260A>G (n.703+260A>G)
c.574+28A>G (n.574+28A>G)
3g.38613716A>TCA2665116247SCN5Ac.703+27T>A (n.703+27T>A)
c.703+259T>A (n.703+259T>A)
c.574+27T>A (n.574+27T>A)
 gnomAD v4
3g.38613717G=CA1358589334SCN5Ac.703+26C= (n.703+26C=)
c.703+258C= (n.703+258C=)
c.574+26C= (n.574+26C=)
3g.38613717G>TCA1358589335SCN5Ac.703+26C>A (n.703+26C>A)
c.703+258C>A (n.703+258C>A)
c.574+26C>A (n.574+26C>A)
 dbSNP gnomAD v4
3g.38613718C>ACA542273936SCN5Ac.703+25G>T (n.703+25G>T)
c.703+257G>T (n.703+257G>T)
c.574+25G>T (n.574+25G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38613718C=CA1358589336SCN5Ac.703+25G= (n.703+25G=)
c.703+257G= (n.703+257G=)
c.574+25G= (n.574+25G=)
3g.38613719C>ACA2665116248SCN5Ac.703+24G>T (n.703+24G>T)
c.703+256G>T (n.703+256G>T)
c.574+24G>T (n.574+24G>T)
 gnomAD v4
3g.38613719C>TCA2665116249SCN5Ac.703+24G>A (n.703+24G>A)
c.703+256G>A (n.703+256G>A)
c.574+24G>A (n.574+24G>A)
 gnomAD v4
3g.38613720T>CCA2665116250SCN5Ac.703+23A>G (n.703+23A>G)
c.703+255A>G (n.703+255A>G)
c.574+23A>G (n.574+23A>G)
 gnomAD v4
3g.38613722G>ACA2665116251SCN5Ac.703+21C>T (n.703+21C>T)
c.703+253C>T (n.703+253C>T)
c.574+21C>T (n.574+21C>T)
 gnomAD v4
3g.38613722G>TCA2665116252SCN5Ac.703+21C>A (n.703+21C>A)
c.703+253C>A (n.703+253C>A)
c.574+21C>A (n.574+21C>A)
 gnomAD v4
3g.38613723G>CCA065549SCN5Ac.703+20C>G (n.703+20C>G)
c.703+252C>G (n.703+252C>G)
c.574+20C>G (n.574+20C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613723G=CA1358589337SCN5Ac.703+20C= (n.703+20C=)
c.703+252C= (n.703+252C=)
c.574+20C= (n.574+20C=)
3g.38613723G>TCA2665116253SCN5Ac.703+20C>A (n.703+20C>A)
c.703+252C>A (n.703+252C>A)
c.574+20C>A (n.574+20C>A)
 gnomAD v4
3g.38613724T>ACA1358589339SCN5Ac.703+19A>T (n.703+19A>T)
c.703+251A>T (n.703+251A>T)
c.574+19A>T (n.574+19A>T)
 dbSNP gnomAD v4
3g.38613724T>CCA2577553625SCN5Ac.703+19A>G (n.703+19A>G)
c.703+251A>G (n.703+251A>G)
c.574+19A>G (n.574+19A>G)
 gnomAD v4
3g.38613724T=CA1358589338SCN5Ac.703+19A= (n.703+19A=)
c.703+251A= (n.703+251A=)
c.574+19A= (n.574+19A=)
3g.38613725G>ACA2665116254SCN5Ac.703+18C>T (n.703+18C>T)
c.703+250C>T (n.703+250C>T)
c.574+18C>T (n.574+18C>T)
 gnomAD v4
3g.38613725G>TCA2665116255SCN5Ac.703+18C>A (n.703+18C>A)
c.703+250C>A (n.703+250C>A)
c.574+18C>A (n.574+18C>A)
 gnomAD v4
3g.38613727T>CCA542273937SCN5Ac.703+16A>G (n.703+16A>G)
c.703+248A>G (n.703+248A>G)
c.574+16A>G (n.574+16A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613727T=CA1358589340SCN5Ac.703+16A= (n.703+16A=)
c.703+248A= (n.703+248A=)
c.574+16A= (n.574+16A=)
3g.38613728T>CCA1358589341SCN5Ac.703+15A>G (n.703+15A>G)
c.703+247A>G (n.703+247A>G)
c.574+15A>G (n.574+15A>G)
 dbSNP gnomAD v4
3g.38613728T=CA1358589342SCN5Ac.703+15A= (n.703+15A=)
c.703+247A= (n.703+247A=)
c.574+15A= (n.574+15A=)
3g.38613729A>GCA2665116256SCN5Ac.703+14T>C (n.703+14T>C)
c.703+246T>C (n.703+246T>C)
c.574+14T>C (n.574+14T>C)
 gnomAD v4
3g.38613729A>TCA2665116257SCN5Ac.703+14T>A (n.703+14T>A)
c.703+246T>A (n.703+246T>A)
c.574+14T>A (n.574+14T>A)
 gnomAD v4
3g.38613730A>TCA2665116258SCN5Ac.703+13T>A (n.703+13T>A)
c.703+245T>A (n.703+245T>A)
c.574+13T>A (n.574+13T>A)
 gnomAD v4
3g.38613731C>ACA2577553626SCN5Ac.703+12G>T (n.703+12G>T)
c.703+244G>T (n.703+244G>T)
c.574+12G>T (n.574+12G>T)
3g.38613731C=CA1358589343SCN5Ac.703+12G= (n.703+12G=)
c.703+244G= (n.703+244G=)
c.574+12G= (n.574+12G=)
3g.38613731C>TCA065546SCN5Ac.703+12G>A (n.703+12G>A)
c.703+244G>A (n.703+244G>A)
c.574+12G>A (n.574+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613732C>ACA2665116259SCN5Ac.703+11G>T (n.703+11G>T)
c.703+243G>T (n.703+243G>T)
c.574+11G>T (n.574+11G>T)
 gnomAD v4
3g.38613732C=CA1358589344SCN5Ac.703+11G= (n.703+11G=)
c.703+243G= (n.703+243G=)
c.574+11G= (n.574+11G=)
3g.38613732C>GCA542273938SCN5Ac.703+11G>C (n.703+11G>C)
c.703+243G>C (n.703+243G>C)
c.574+11G>C (n.574+11G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38613732C>TCA72943135SCN5Ac.703+11G>A (n.703+11G>A)
c.703+243G>A (n.703+243G>A)
c.574+11G>A (n.574+11G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613733T>ACA2665116260SCN5Ac.703+10A>T (n.703+10A>T)
c.703+242A>T (n.703+242A>T)
c.574+10A>T (n.574+10A>T)
 gnomAD v4
3g.38613733T>CCA542273939SCN5Ac.703+10A>G (n.703+10A>G)
c.703+242A>G (n.703+242A>G)
c.574+10A>G (n.574+10A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38613733T=CA1358589345SCN5Ac.703+10A= (n.703+10A=)
c.703+242A= (n.703+242A=)
c.574+10A= (n.574+10A=)
3g.38613734G>ACA542273940SCN5Ac.703+9C>T (n.703+9C>T)
c.703+241C>T (n.703+241C>T)
c.574+9C>T (n.574+9C>T)
 dbSNP gnomAD v2
3g.38613734G=CA1358589346SCN5Ac.703+9C= (n.703+9C=)
c.703+241C= (n.703+241C=)
c.574+9C= (n.574+9C=)
3g.38613734G>TCA2665116261SCN5Ac.703+9C>A (n.703+9C>A)
c.703+241C>A (n.703+241C>A)
c.574+9C>A (n.574+9C>A)
 gnomAD v4
3g.38613735A>GCA2511262251SCN5Ac.703+8T>C (n.703+8T>C)
c.703+240T>C (n.703+240T>C)
c.574+8T>C (n.574+8T>C)
3g.38613736T>GCA542273941SCN5Ac.703+7A>C (n.703+7A>C)
c.703+239A>C (n.703+239A>C)
c.574+7A>C (n.574+7A>C)
 dbSNP gnomAD v2
3g.38613736T=CA1358589347SCN5Ac.703+7A= (n.703+7A=)
c.703+239A= (n.703+239A=)
c.574+7A= (n.574+7A=)
3g.38613737T>CCA065566SCN5Ac.703+6A>G (n.703+6A>G)
c.703+238A>G (n.703+238A>G)
c.574+6A>G (n.574+6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613737T=CA1358589348SCN5Ac.703+6A= (n.703+6A=)
c.703+238A= (n.703+238A=)
c.574+6A= (n.574+6A=)
3g.38613738T>CCA2665116262SCN5Ac.703+5A>G (n.703+5A>G)
c.703+237A>G (n.703+237A>G)
c.574+5A>G (n.574+5A>G)
 gnomAD v4
3g.38613740C>ACA2665116263SCN5Ac.703+3G>T (n.703+3G>T)
c.703+235G>T (n.703+235G>T)
c.574+3G>T (n.574+3G>T)
 gnomAD v4
3g.38613740C=CA1358589349SCN5Ac.703+3G= (n.703+3G=)
c.703+235G= (n.703+235G=)
c.574+3G= (n.574+3G=)
3g.38613740C>TCA542273942SCN5Ac.703+3G>A (n.703+3G>A)
c.703+235G>A (n.703+235G>A)
c.574+3G>A (n.574+3G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38613741A=CA1358589350SCN5Ac.703+2T= (n.703+2T=)
c.703+234T= (n.703+234T=)
c.574+2T= (n.574+2T=)
3g.38613741A>CCA352151430SCN5Ac.703+2T>G (n.703+2T>G)
c.703+234T>G (n.703+234T>G)
c.574+2T>G (n.574+2T>G)
 dbSNP
3g.38613741A>GCA352151432SCN5Ac.703+2T>C (n.703+2T>C)
c.703+234T>C (n.703+234T>C)
c.574+2T>C (n.574+2T>C)
 gnomAD v4
3g.38613741A>TCA352151434SCN5Ac.703+2T>A (n.703+2T>A)
c.703+234T>A (n.703+234T>A)
c.574+2T>A (n.574+2T>A)
3g.38613742C>ACA352151435SCN5Ac.703+1G>T (n.703+1G>T)
c.703+233G>T (n.703+233G>T)
c.574+1G>T (n.574+1G>T)
 ClinVar dbSNP gnomAD v4
3g.38613742C>GCA352151436SCN5Ac.703+1G>C (n.703+1G>C)
c.703+233G>C (n.703+233G>C)
c.574+1G>C (n.574+1G>C)
 ClinVar dbSNP
3g.38613742C>TCA352151437SCN5Ac.703+1G>A (n.703+1G>A)
c.703+233G>A (n.703+233G>A)
c.574+1G>A (n.574+1G>A)
3g.38613743C>ACA72943141SCN5Ac.703G>T (p.Gly235Trp)
c.703+232G>T (n.703+232G>T)
c.574G>T (p.Gly192Trp)
 dbSNP gnomAD v4
3g.38613743C=CA1358589352SCN5Ac.703G= (p.Gly235=)
c.703+232G= (n.703+232G=)
c.574G= (p.Gly192=)
3g.38613743C>GCA352151440SCN5Ac.703G>C (p.Gly235Arg)
c.703+232G>C (n.703+232G>C)
c.574G>C (p.Gly192Arg)
 gnomAD v4
3g.38613743C>TCA065574SCN5Ac.703G>A (p.Gly235Arg)
c.703+232G>A (n.703+232G>A)
c.574G>A (p.Gly192Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613743_38613744delinsCTCA1358589351SCN5Ac.702_703delinsAG (p.Ser234=)
c.703+231_703+232delinsAG (n.703+231_703+232delinsAG)
c.573_574delinsAG (p.Ser191=)
3g.38613744delCA1139655792SCN5Ac.702del (p.Leu236Ter)
c.703+231del (n.703+231del)
c.573del (p.Leu193Ter)
 ClinVar dbSNP
3g.38613744T>ACA2665116264SCN5Ac.702A>T (p.Ser234=)
c.703+231A>T (n.703+231A>T)
c.573A>T (p.Ser191=)
 gnomAD v4
3g.38613744T>CCA1046999391SCN5Ac.702A>G (p.Ser234=)
c.703+231A>G (n.703+231A>G)
c.573A>G (p.Ser191=)
 dbSNP gnomAD v3 gnomAD v4
3g.38613744T>GCA019750SCN5Ac.702A>C (p.Ser234=)
c.703+231A>C (n.703+231A>C)
c.573A>C (p.Ser191=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38613744T=CA1358589353SCN5Ac.702A= (p.Ser234=)
c.703+231A= (n.703+231A=)
c.573A= (p.Ser191=)
3g.38613745G>ACA352151444SCN5Ac.701C>T (p.Ser234Leu)
c.703+230C>T (n.703+230C>T)
c.572C>T (p.Ser191Leu)
 dbSNP gnomAD v2
3g.38613745G>CCA352151448SCN5Ac.701C>G (p.Ser234Ter)
c.703+230C>G (n.703+230C>G)
c.572C>G (p.Ser191Ter)
3g.38613745G=CA1358589354SCN5Ac.701C= (p.Ser234=)
c.703+230C= (n.703+230C=)
c.572C= (p.Ser191=)
3g.38613745G>TCA352151446SCN5Ac.701C>A (p.Ser234Ter)
c.703+230C>A (n.703+230C>A)
c.572C>A (p.Ser191Ter)
 gnomAD v4
3g.38613746A>CCA352151449SCN5Ac.700T>G (p.Ser234Ala)
c.703+229T>G (n.703+229T>G)
c.571T>G (p.Ser191Ala)
3g.38613746A>GCA352151450SCN5Ac.700T>C (p.Ser234Pro)
c.703+229T>C (n.703+229T>C)
c.571T>C (p.Ser191Pro)
 gnomAD v4
3g.38613746A>TCA352151452SCN5Ac.700T>A (p.Ser234Thr)
c.703+229T>A (n.703+229T>A)
c.571T>A (p.Ser191Thr)
3g.38613747A>CCA352151454SCN5Ac.699T>G (p.Ile233Met)
c.703+228T>G (n.703+228T>G)
c.570T>G (p.Ile190Met)
3g.38613748A=CA1358589355SCN5Ac.698T= (p.Ile233=)
c.703+227T= (n.703+227T=)
c.569T= (p.Ile190=)
3g.38613748A>CCA352151456SCN5Ac.698T>G (p.Ile233Ser)
c.703+227T>G (n.703+227T>G)
c.569T>G (p.Ile190Ser)
3g.38613748A>GCA72943148SCN5Ac.698T>C (p.Ile233Thr)
c.703+227T>C (n.703+227T>C)
c.569T>C (p.Ile190Thr)
 ClinVar dbSNP gnomAD v4
3g.38613748A>TCA352151459SCN5Ac.698T>A (p.Ile233Asn)
c.703+227T>A (n.703+227T>A)
c.569T>A (p.Ile190Asn)
3g.38613749T>ACA352151461SCN5Ac.697A>T (p.Ile233Phe)
c.703+226A>T (n.703+226A>T)
c.568A>T (p.Ile190Phe)
3g.38613749T>CCA352151462SCN5Ac.697A>G (p.Ile233Val)
c.703+226A>G (n.703+226A>G)
c.568A>G (p.Ile190Val)
3g.38613749T>GCA352151464SCN5Ac.697A>C (p.Ile233Leu)
c.703+226A>C (n.703+226A>C)
c.568A>C (p.Ile190Leu)
3g.38613750G>ACA065538SCN5Ac.696C>T (p.Val232=)
c.703+225C>T (n.703+225C>T)
c.567C>T (p.Val189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613750G=CA1358589356SCN5Ac.696C= (p.Val232=)
c.703+225C= (n.703+225C=)
c.567C= (p.Val189=)
3g.38613750G>TCA2665116265SCN5Ac.696C>A (p.Val232=)
c.703+225C>A (n.703+225C>A)
c.567C>A (p.Val189=)
 gnomAD v4
3g.38613751A>CCA352151469SCN5Ac.695T>G (p.Val232Gly)
c.703+224T>G (n.703+224T>G)
c.566T>G (p.Val189Gly)
3g.38613751A>GCA352151471SCN5Ac.695T>C (p.Val232Ala)
c.703+224T>C (n.703+224T>C)
c.566T>C (p.Val189Ala)
 gnomAD v4
3g.38613751A>TCA352151468SCN5Ac.695T>A (p.Val232Asp)
c.703+224T>A (n.703+224T>A)
c.566T>A (p.Val189Asp)
3g.38613752C>ACA352151476SCN5Ac.694G>T (p.Val232Phe)
c.703+223G>T (n.703+223G>T)
c.565G>T (p.Val189Phe)
3g.38613752C=CA1358589357SCN5Ac.694G= (p.Val232=)
c.703+223G= (n.703+223G=)
c.565G= (p.Val189=)
3g.38613752C>GCA352151473SCN5Ac.694G>C (p.Val232Leu)
c.703+223G>C (n.703+223G>C)
c.565G>C (p.Val189Leu)
3g.38613752C>TCA019745SCN5Ac.694G>A (p.Val232Ile)
c.703+223G>A (n.703+223G>A)
c.565G>A (p.Val189Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613753T>ACA2665116266SCN5Ac.693A>T (p.Ser231=)
c.703+222A>T (n.703+222A>T)
c.564A>T (p.Ser188=)
 gnomAD v4
3g.38613753T>GCA2577553627SCN5Ac.693A>C (p.Ser231=)
c.703+222A>C (n.703+222A>C)
c.564A>C (p.Ser188=)
3g.38613753_38613754delCA2586971922SCN5Ac.692_693del (p.Ser231CysfsTer21)
c.703+221_703+222del (n.703+221_703+222del)
c.563_564del (p.Ser188CysfsTer21)
3g.38613754G>ACA352151478SCN5Ac.692C>T (p.Ser231Leu)
c.703+221C>T (n.703+221C>T)
c.563C>T (p.Ser188Leu)
3g.38613754G>CCA352151480SCN5Ac.692C>G (p.Ser231Ter)
c.703+221C>G (n.703+221C>G)
c.563C>G (p.Ser188Ter)
 gnomAD v4
3g.38613754G>TCA352151481SCN5Ac.692C>A (p.Ser231Ter)
c.703+221C>A (n.703+221C>A)
c.563C>A (p.Ser188Ter)
 gnomAD v4
3g.38613755A>CCA352151482SCN5Ac.691T>G (p.Ser231Ala)
c.703+220T>G (n.703+220T>G)
c.562T>G (p.Ser188Ala)
3g.38613755A>GCA352151483SCN5Ac.691T>C (p.Ser231Pro)
c.703+220T>C (n.703+220T>C)
c.562T>C (p.Ser188Pro)
 gnomAD v4
3g.38613755A>TCA352151485SCN5Ac.691T>A (p.Ser231Thr)
c.703+220T>A (n.703+220T>A)
c.562T>A (p.Ser188Thr)
3g.38613756T>CCA352151486SCN5Ac.690A>G (p.Ile230Met)
c.703+219A>G (n.703+219A>G)
c.561A>G (p.Ile187Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613756T>GCA2570024354SCN5Ac.690A>C (p.Ile230=)
c.703+219A>C (n.703+219A>C)
c.561A>C (p.Ile187=)
3g.38613756T=CA1358589358SCN5Ac.690A= (p.Ile230=)
c.703+219A= (n.703+219A=)
c.561A= (p.Ile187=)
3g.38613757A=CA1358589359SCN5Ac.689T= (p.Ile230=)
c.703+218T= (n.703+218T=)
c.560T= (p.Ile187=)
3g.38613757A>CCA352151488SCN5Ac.689T>G (p.Ile230Arg)
c.703+218T>G (n.703+218T>G)
c.560T>G (p.Ile187Arg)
3g.38613757A>GCA019740SCN5Ac.689T>C (p.Ile230Thr)
c.703+218T>C (n.703+218T>C)
c.560T>C (p.Ile187Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38613757A>TCA352151490SCN5Ac.689T>A (p.Ile230Lys)
c.703+218T>A (n.703+218T>A)
c.560T>A (p.Ile187Lys)
3g.38613758T>ACA352151495SCN5Ac.688A>T (p.Ile230Leu)
c.703+217A>T (n.703+217A>T)
c.559A>T (p.Ile187Leu)
3g.38613758T>CCA019734SCN5Ac.688A>G (p.Ile230Val)
c.703+217A>G (n.703+217A>G)
c.559A>G (p.Ile187Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613758T>GCA352151493SCN5Ac.688A>C (p.Ile230Leu)
c.703+217A>C (n.703+217A>C)
c.559A>C (p.Ile187Leu)
3g.38613758T=CA1358589360SCN5Ac.688A= (p.Ile230=)
c.703+217A= (n.703+217A=)
c.559A= (p.Ile187=)
3g.38613759A=CA1358589361SCN5Ac.687T= (p.Thr229=)
c.703+216T= (n.703+216T=)
c.558T= (p.Thr186=)
3g.38613759A>GCA065526SCN5Ac.687T>C (p.Thr229=)
c.703+216T>C (n.703+216T>C)
c.558T>C (p.Thr186=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613759A>TCA2540259858SCN5Ac.687T>A (p.Thr229=)
c.703+216T>A (n.703+216T>A)
c.558T>A (p.Thr186=)
3g.38613760G>ACA352151498SCN5Ac.686C>T (p.Thr229Ile)
c.703+215C>T (n.703+215C>T)
c.557C>T (p.Thr186Ile)
3g.38613760G>CCA352151499SCN5Ac.686C>G (p.Thr229Ser)
c.703+215C>G (n.703+215C>G)
c.557C>G (p.Thr186Ser)
 ClinVar dbSNP
3g.38613760G=CA1358589362SCN5Ac.686C= (p.Thr229=)
c.703+215C= (n.703+215C=)
c.557C= (p.Thr186=)
3g.38613760G>TCA352151501SCN5Ac.686C>A (p.Thr229Asn)
c.703+215C>A (n.703+215C>A)
c.557C>A (p.Thr186Asn)
 gnomAD v4
3g.38613761T>ACA352151503SCN5Ac.685A>T (p.Thr229Ser)
c.703+214A>T (n.703+214A>T)
c.556A>T (p.Thr186Ser)
 gnomAD v4
3g.38613761T>CCA352151505SCN5Ac.685A>G (p.Thr229Ala)
c.703+214A>G (n.703+214A>G)
c.556A>G (p.Thr186Ala)
3g.38613761T>GCA352151506SCN5Ac.685A>C (p.Thr229Pro)
c.703+214A>C (n.703+214A>C)
c.556A>C (p.Thr186Pro)
3g.38613762T>ACA352151508SCN5Ac.684A>T (p.Lys228Asn)
c.703+213A>T (n.703+213A>T)
c.555A>T (p.Lys185Asn)
3g.38613762T>GCA352151509SCN5Ac.684A>C (p.Lys228Asn)
c.703+213A>C (n.703+213A>C)
c.555A>C (p.Lys185Asn)
 COSMIC COSMIC
3g.38613763T>ACA352151511SCN5Ac.683A>T (p.Lys228Ile)
c.703+212A>T (n.703+212A>T)
c.554A>T (p.Lys185Ile)
3g.38613763T>CCA352151513SCN5Ac.683A>G (p.Lys228Arg)
c.703+212A>G (n.703+212A>G)
c.554A>G (p.Lys185Arg)
3g.38613763T>GCA352151514SCN5Ac.683A>C (p.Lys228Thr)
c.703+212A>C (n.703+212A>C)
c.554A>C (p.Lys185Thr)
3g.38613764T>ACA352151517SCN5Ac.682A>T (p.Lys228Ter)
c.703+211A>T (n.703+211A>T)
c.553A>T (p.Lys185Ter)
3g.38613764T>CCA352151519SCN5Ac.682A>G (p.Lys228Glu)
c.703+211A>G (n.703+211A>G)
c.553A>G (p.Lys185Glu)
3g.38613764T>GCA352151515SCN5Ac.682A>C (p.Lys228Gln)
c.703+211A>C (n.703+211A>C)
c.553A>C (p.Lys185Gln)
3g.38613765delCA645519441SCN5Ac.681del (p.Thr229LeufsTer8)
c.703+210del (n.703+210del)
c.552del (p.Thr186LeufsTer8)
 COSMIC COSMIC
3g.38613765C=CA1358589363SCN5Ac.681G= (p.Leu227=)
c.703+210G= (n.703+210G=)
c.552G= (p.Leu184=)
3g.38613765C>TCA065523SCN5Ac.681G>A (p.Leu227=)
c.703+210G>A (n.703+210G>A)
c.552G>A (p.Leu184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613766A=CA1358589364SCN5Ac.680T= (p.Leu227=)
c.703+209T= (n.703+209T=)
c.551T= (p.Leu184=)
3g.38613766A>CCA352151522SCN5Ac.680T>G (p.Leu227Arg)
c.703+209T>G (n.703+209T>G)
c.551T>G (p.Leu184Arg)
3g.38613766A>GCA019728SCN5Ac.680T>C (p.Leu227Pro)
c.703+209T>C (n.703+209T>C)
c.551T>C (p.Leu184Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613766A>TCA352151524SCN5Ac.680T>A (p.Leu227Gln)
c.703+209T>A (n.703+209T>A)
c.551T>A (p.Leu184Gln)
3g.38613767G>CCA352151525SCN5Ac.679C>G (p.Leu227Val)
c.703+208C>G (n.703+208C>G)
c.550C>G (p.Leu184Val)
3g.38613767G>TCA352151526SCN5Ac.679C>A (p.Leu227Met)
c.703+208C>A (n.703+208C>A)
c.550C>A (p.Leu184Met)
 gnomAD v4
3g.38613768G>ACA2665116267SCN5Ac.678C>T (p.Ala226=)
c.703+207C>T (n.703+207C>T)
c.549C>T (p.Ala183=)
 ClinVar gnomAD v4
3g.38613768G>CCA2550955374SCN5Ac.678C>G (p.Ala226=)
c.703+207C>G (n.703+207C>G)
c.549C>G (p.Ala183=)
3g.38613768G>TCA2665116268SCN5Ac.678C>A (p.Ala226=)
c.703+207C>A (n.703+207C>A)
c.549C>A (p.Ala183=)
 gnomAD v4
3g.38613769G>ACA019724SCN5Ac.677C>T (p.Ala226Val)
c.703+206C>T (n.703+206C>T)
c.548C>T (p.Ala183Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613769G>CCA352151529SCN5Ac.677C>G (p.Ala226Gly)
c.703+206C>G (n.703+206C>G)
c.548C>G (p.Ala183Gly)
3g.38613769G=CA1358589365SCN5Ac.677C= (p.Ala226=)
c.703+206C= (n.703+206C=)
c.548C= (p.Ala183=)
3g.38613769G>TCA352151530SCN5Ac.677C>A (p.Ala226Asp)
c.703+206C>A (n.703+206C>A)
c.548C>A (p.Ala183Asp)
 ClinVar dbSNP
3g.38613770C>ACA352151531SCN5Ac.676G>T (p.Ala226Ser)
c.703+205G>T (n.703+205G>T)
c.547G>T (p.Ala183Ser)
 gnomAD v4
3g.38613770C=CA1358589366SCN5Ac.676G= (p.Ala226=)
c.703+205G= (n.703+205G=)
c.547G= (p.Ala183=)
3g.38613770C>GCA352151532SCN5Ac.676G>C (p.Ala226Pro)
c.703+205G>C (n.703+205G>C)
c.547G>C (p.Ala183Pro)
3g.38613770C>TCA352151534SCN5Ac.676G>A (p.Ala226Thr)
c.703+205G>A (n.703+205G>A)
c.547G>A (p.Ala183Thr)
 dbSNP gnomAD v4 COSMIC COSMIC
3g.38613771C>ACA2577553628SCN5Ac.675G>T (p.Arg225=)
c.703+204G>T (n.703+204G>T)
c.546G>T (p.Arg182=)
3g.38613771C>TCA2665116269SCN5Ac.675G>A (p.Arg225=)
c.703+204G>A (n.703+204G>A)
c.546G>A (p.Arg182=)
 gnomAD v4
3g.38613772C>ACA352151536SCN5Ac.674G>T (p.Arg225Leu)
c.703+203G>T (n.703+203G>T)
c.545G>T (p.Arg182Leu)
 COSMIC COSMIC
3g.38613772C=CA1358589367SCN5Ac.674G= (p.Arg225=)
c.703+203G= (n.703+203G=)
c.545G= (p.Arg182=)
3g.38613772C>GCA352151537SCN5Ac.674G>C (p.Arg225Pro)
c.703+203G>C (n.703+203G>C)
c.545G>C (p.Arg182Pro)
 ClinVar
3g.38613772C>TCA019719SCN5Ac.674G>A (p.Arg225Gln)
c.703+203G>A (n.703+203G>A)
c.545G>A (p.Arg182Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.38613773G>ACA019714SCN5Ac.673C>T (p.Arg225Trp)
c.703+202C>T (n.703+202C>T)
c.544C>T (p.Arg182Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.38613773G>CCA352151540SCN5Ac.673C>G (p.Arg225Gly)
c.703+202C>G (n.703+202C>G)
c.544C>G (p.Arg182Gly)
3g.38613773G=CA1358589368SCN5Ac.673C= (p.Arg225=)
c.703+202C= (n.703+202C=)
c.544C= (p.Arg182=)
3g.38613773G>TCA2577553629SCN5Ac.673C>A (p.Arg225=)
c.703+202C>A (n.703+202C>A)
c.544C>A (p.Arg182=)
3g.38613774G>CCA2536395364SCN5Ac.672C>G (p.Leu224=)
c.703+201C>G (n.703+201C>G)
c.543C>G (p.Leu181=)
3g.38613775A>CCA352151542SCN5Ac.671T>G (p.Leu224Arg)
c.703+200T>G (n.703+200T>G)
c.542T>G (p.Leu181Arg)
3g.38613775A>GCA352151544SCN5Ac.671T>C (p.Leu224Pro)
c.703+200T>C (n.703+200T>C)
c.542T>C (p.Leu181Pro)
 ClinVar dbSNP gnomAD v4
3g.38613775A>TCA352151545SCN5Ac.671T>A (p.Leu224His)
c.703+200T>A (n.703+200T>A)
c.542T>A (p.Leu181His)
3g.38613776G>ACA352151550SCN5Ac.670C>T (p.Leu224Phe)
c.703+199C>T (n.703+199C>T)
c.541C>T (p.Leu181Phe)
 dbSNP gnomAD v4
3g.38613776G>CCA352151548SCN5Ac.670C>G (p.Leu224Val)
c.703+199C>G (n.703+199C>G)
c.541C>G (p.Leu181Val)
3g.38613776G=CA1358589369SCN5Ac.670C= (p.Leu224=)
c.703+199C= (n.703+199C=)
c.541C= (p.Leu181=)
3g.38613776G>TCA352151546SCN5Ac.670C>A (p.Leu224Ile)
c.703+199C>A (n.703+199C>A)
c.541C>A (p.Leu181Ile)
3g.38613777G>ACA2580069759SCN5Ac.669C>T (p.Val223=)
c.703+198C>T (n.703+198C>T)
c.540C>T (p.Val180=)
 ClinVar
3g.38613777G>TCA2545675836SCN5Ac.669C>A (p.Val223=)
c.703+198C>A (n.703+198C>A)
c.540C>A (p.Val180=)
 gnomAD v4
3g.38613778A>CCA352151552SCN5Ac.668T>G (p.Val223Gly)
c.703+197T>G (n.703+197T>G)
c.539T>G (p.Val180Gly)
3g.38613778A>GCA352151553SCN5Ac.668T>C (p.Val223Ala)
c.703+197T>C (n.703+197T>C)
c.539T>C (p.Val180Ala)
3g.38613778A>TCA352151555SCN5Ac.668T>A (p.Val223Asp)
c.703+197T>A (n.703+197T>A)
c.539T>A (p.Val180Asp)
3g.38613779C>ACA352151557SCN5Ac.667G>T (p.Val223Phe)
c.703+196G>T (n.703+196G>T)
c.538G>T (p.Val180Phe)
 gnomAD v4
3g.38613779C=CA1358589370SCN5Ac.667G= (p.Val223=)
c.703+196G= (n.703+196G=)
c.538G= (p.Val180=)
3g.38613779C>GCA019709SCN5Ac.667G>C (p.Val223Leu)
c.703+196G>C (n.703+196G>C)
c.538G>C (p.Val180Leu)
 ClinVar dbSNP
3g.38613779C>TCA352151559SCN5Ac.667G>A (p.Val223Ile)
c.703+196G>A (n.703+196G>A)
c.538G>A (p.Val180Ile)
3g.38613780T>CCA065487SCN5Ac.666A>G (p.Arg222=)
c.703+195A>G (n.703+195A>G)
c.537A>G (p.Arg179=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38613780T=CA1358589371SCN5Ac.666A= (p.Arg222=)
c.703+195A= (n.703+195A=)
c.537A= (p.Arg179=)
3g.38613781C>ACA352151562SCN5Ac.665G>T (p.Arg222Leu)
c.703+194G>T (n.703+194G>T)
c.536G>T (p.Arg179Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38613781C=CA1358589372SCN5Ac.665G= (p.Arg222=)
c.703+194G= (n.703+194G=)
c.536G= (p.Arg179=)
3g.38613781C>GCA352151564SCN5Ac.665G>C (p.Arg222Pro)
c.703+194G>C (n.703+194G>C)
c.536G>C (p.Arg179Pro)
3g.38613781C>TCA019704SCN5Ac.665G>A (p.Arg222Gln)
c.703+194G>A (n.703+194G>A)
c.536G>A (p.Arg179Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38613781_38613782delinsTACA2586971923SCN5Ac.664_665delinsTA (p.Arg222Ter)
c.703+193_703+194delinsTA (n.703+193_703+194delinsTA)
c.535_536delinsTA (p.Arg179Ter)
3g.38613782G>ACA019700SCN5Ac.664C>T (p.Arg222Ter)
c.703+193C>T (n.703+193C>T)
c.535C>T (p.Arg179Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.38613782G>CCA019695SCN5Ac.664C>G (p.Arg222Gly)
c.703+193C>G (n.703+193C>G)
c.535C>G (p.Arg179Gly)
 ClinVar dbSNP
3g.38613782G=CA1358589373SCN5Ac.664C= (p.Arg222=)
c.703+193C= (n.703+193C=)
c.535C= (p.Arg179=)
3g.38613782G>TCA2570203289SCN5Ac.664C>A (p.Arg222=)
c.703+193C>A (n.703+193C>A)
c.535C>A (p.Arg179=)
3g.38613783G>ACA645519442SCN5Ac.663C>T (p.Phe221=)
c.703+192C>T (n.703+192C>T)
c.534C>T (p.Phe178=)
 gnomAD v4 COSMIC COSMIC
3g.38613783G>CCA352151569SCN5Ac.663C>G (p.Phe221Leu)
c.703+192C>G (n.703+192C>G)
c.534C>G (p.Phe178Leu)
3g.38613783G>TCA352151568SCN5Ac.663C>A (p.Phe221Leu)
c.703+192C>A (n.703+192C>A)
c.534C>A (p.Phe178Leu)
3g.38613784A>CCA352151571SCN5Ac.662T>G (p.Phe221Cys)
c.703+191T>G (n.703+191T>G)
c.533T>G (p.Phe178Cys)
 gnomAD v4
3g.38613784A>GCA352151573SCN5Ac.662T>C (p.Phe221Ser)
c.703+191T>C (n.703+191T>C)
c.533T>C (p.Phe178Ser)
3g.38613784A>TCA352151575SCN5Ac.662T>A (p.Phe221Tyr)
c.703+191T>A (n.703+191T>A)
c.533T>A (p.Phe178Tyr)
3g.38613785A>CCA352151577SCN5Ac.661T>G (p.Phe221Val)
c.703+190T>G (n.703+190T>G)
c.532T>G (p.Phe178Val)
 ClinVar
3g.38613785A>GCA352151578SCN5Ac.661T>C (p.Phe221Leu)
c.703+190T>C (n.703+190T>C)
c.532T>C (p.Phe178Leu)
3g.38613785A>TCA352151580SCN5Ac.661T>A (p.Phe221Ile)
c.703+190T>A (n.703+190T>A)
c.532T>A (p.Phe178Ile)
3g.38613786G>CCA2527546116SCN5Ac.660C>G (p.Thr220=)
c.703+189C>G (n.703+189C>G)
c.531C>G (p.Thr177=)
3g.38613787G>ACA019690SCN5Ac.659C>T (p.Thr220Ile)
c.703+188C>T (n.703+188C>T)
c.530C>T (p.Thr177Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38613787G>CCA352151583SCN5Ac.659C>G (p.Thr220Ser)
c.703+188C>G (n.703+188C>G)
c.530C>G (p.Thr177Ser)
 gnomAD v4 COSMIC
3g.38613787G=CA1358589374SCN5Ac.659C= (p.Thr220=)
c.703+188C= (n.703+188C=)
c.530C= (p.Thr177=)
3g.38613787G>TCA352151584SCN5Ac.659C>A (p.Thr220Asn)
c.703+188C>A (n.703+188C>A)
c.530C>A (p.Thr177Asn)
3g.38613788T>ACA352151585SCN5Ac.658A>T (p.Thr220Ser)
c.703+187A>T (n.703+187A>T)
c.529A>T (p.Thr177Ser)
3g.38613788T>CCA352151586SCN5Ac.658A>G (p.Thr220Ala)
c.703+187A>G (n.703+187A>G)
c.529A>G (p.Thr177Ala)
 ClinVar dbSNP gnomAD v4
3g.38613788T>GCA352151588SCN5Ac.658A>C (p.Thr220Pro)
c.703+187A>C (n.703+187A>C)
c.529A>C (p.Thr177Pro)
3g.38613789G>ACA433138702SCN5Ac.657C>T (p.Arg219=)
c.703+186C>T (n.703+186C>T)
c.528C>T (p.Arg176=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38613789G=CA1358589375SCN5Ac.657C= (p.Arg219=)
c.703+186C= (n.703+186C=)
c.528C= (p.Arg176=)
3g.38613789G>TCA2542471745SCN5Ac.657C>A (p.Arg219=)
c.703+186C>A (n.703+186C>A)
c.528C>A (p.Arg176=)
3g.38613789_38613790insTGAATCA2586971924SCN5Ac.656_657insATTCA (p.Thr220PhefsTer10)
c.703+185_703+186insATTCA (n.703+185_703+186insATTCA)
c.527_528insATTCA (p.Thr177PhefsTer10)
3g.38613790C>ACA352151591SCN5Ac.656G>T (p.Arg219Leu)
c.703+185G>T (n.703+185G>T)
c.527G>T (p.Arg176Leu)
3g.38613790C=CA1358589376SCN5Ac.656G= (p.Arg219=)
c.703+185G= (n.703+185G=)
c.527G= (p.Arg176=)
3g.38613790C>GCA352151590SCN5Ac.656G>C (p.Arg219Pro)
c.703+185G>C (n.703+185G>C)
c.527G>C (p.Arg176Pro)
 ClinVar dbSNP
3g.38613790C>TCA10582196SCN5Ac.656G>A (p.Arg219His)
c.703+185G>A (n.703+185G>A)
c.527G>A (p.Arg176His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613790_38613791insTGAATCA542273943SCN5Ac.655_656insATTCA (p.Arg219HisfsTer11)
c.703+184_703+185insATTCA (n.703+184_703+185insATTCA)
c.526_527insATTCA (p.Arg176HisfsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38613791G>ACA065472SCN5Ac.655C>T (p.Arg219Cys)
c.703+184C>T (n.703+184C>T)
c.526C>T (p.Arg176Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.38613791G>CCA352151593SCN5Ac.655C>G (p.Arg219Gly)
c.703+184C>G (n.703+184C>G)
c.526C>G (p.Arg176Gly)
3g.38613791G=CA1358589377SCN5Ac.655C= (p.Arg219=)
c.703+184C= (n.703+184C=)
c.526C= (p.Arg176=)
3g.38613791G>TCA352151594SCN5Ac.655C>A (p.Arg219Ser)
c.703+184C>A (n.703+184C>A)
c.526C>A (p.Arg176Ser)
3g.38613792T>ACA352151595SCN5Ac.654A>T (p.Leu218Phe)
c.703+183A>T (n.703+183A>T)
c.525A>T (p.Leu175Phe)
3g.38613792T>CCA2524856918SCN5Ac.654A>G (p.Leu218=)
c.703+183A>G (n.703+183A>G)
c.525A>G (p.Leu175=)
3g.38613792T>GCA352151596SCN5Ac.654A>C (p.Leu218Phe)
c.703+183A>C (n.703+183A>C)
c.525A>C (p.Leu175Phe)
3g.38613792dupCA10590122SCN5Ac.654dup (p.Arg219ThrfsTer?)
c.703+183dup (n.703+183dup)
c.525dup (p.Arg176ThrfsTer?)

Number of alleles fetched