Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38556391C>ACA2665110921SCN5Ac.4434+50G>T (n.4434+50G>T)
c.4437+50G>T (n.4437+50G>T)
c.4383+50G>T (n.4383+50G>T)
c.4275+50G>T (n.4275+50G>T)
c.4308+50G>T (n.4308+50G>T)
c.4380+50G>T (n.4380+50G>T)
 gnomAD v4
3g.38556391C=CA1358563369SCN5Ac.4434+50G= (n.4434+50G=)
c.4437+50G= (n.4437+50G=)
c.4383+50G= (n.4383+50G=)
c.4275+50G= (n.4275+50G=)
c.4308+50G= (n.4308+50G=)
c.4380+50G= (n.4380+50G=)
3g.38556391C>GCA063197SCN5Ac.4434+50G>C (n.4434+50G>C)
c.4437+50G>C (n.4437+50G>C)
c.4383+50G>C (n.4383+50G>C)
c.4275+50G>C (n.4275+50G>C)
c.4308+50G>C (n.4308+50G>C)
c.4380+50G>C (n.4380+50G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556391C>TCA906897683SCN5Ac.4434+50G>A (n.4434+50G>A)
c.4437+50G>A (n.4437+50G>A)
c.4383+50G>A (n.4383+50G>A)
c.4275+50G>A (n.4275+50G>A)
c.4308+50G>A (n.4308+50G>A)
c.4380+50G>A (n.4380+50G>A)
 dbSNP
3g.38556392A=CA1358563370SCN5Ac.4434+49T= (n.4434+49T=)
c.4437+49T= (n.4437+49T=)
c.4383+49T= (n.4383+49T=)
c.4275+49T= (n.4275+49T=)
c.4308+49T= (n.4308+49T=)
c.4380+49T= (n.4380+49T=)
3g.38556392A>CCA2702262191SCN5Ac.4434+49T>G (n.4434+49T>G)
c.4437+49T>G (n.4437+49T>G)
c.4383+49T>G (n.4383+49T>G)
c.4275+49T>G (n.4275+49T>G)
c.4308+49T>G (n.4308+49T>G)
c.4380+49T>G (n.4380+49T>G)
 dbSNP
3g.38556392A>GCA2665110922SCN5Ac.4434+49T>C (n.4434+49T>C)
c.4437+49T>C (n.4437+49T>C)
c.4383+49T>C (n.4383+49T>C)
c.4275+49T>C (n.4275+49T>C)
c.4308+49T>C (n.4308+49T>C)
c.4380+49T>C (n.4380+49T>C)
 gnomAD v4
3g.38556392A>TCA542270062SCN5Ac.4434+49T>A (n.4434+49T>A)
c.4437+49T>A (n.4437+49T>A)
c.4383+49T>A (n.4383+49T>A)
c.4275+49T>A (n.4275+49T>A)
c.4308+49T>A (n.4308+49T>A)
c.4380+49T>A (n.4380+49T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38556392_38556396delCA2755901472SCN5Ac.4434+45_4434+49del (n.4434+45_4434+49del)
c.4437+45_4437+49del (n.4437+45_4437+49del)
c.4383+45_4383+49del (n.4383+45_4383+49del)
c.4275+45_4275+49del (n.4275+45_4275+49del)
c.4308+45_4308+49del (n.4308+45_4308+49del)
c.4380+45_4380+49del (n.4380+45_4380+49del)
3g.38556393C=CA1358563371SCN5Ac.4434+48G= (n.4434+48G=)
c.4437+48G= (n.4437+48G=)
c.4383+48G= (n.4383+48G=)
c.4275+48G= (n.4275+48G=)
c.4308+48G= (n.4308+48G=)
c.4380+48G= (n.4380+48G=)
3g.38556393C>GCA2665110923SCN5Ac.4434+48G>C (n.4434+48G>C)
c.4437+48G>C (n.4437+48G>C)
c.4383+48G>C (n.4383+48G>C)
c.4275+48G>C (n.4275+48G>C)
c.4308+48G>C (n.4308+48G>C)
c.4380+48G>C (n.4380+48G>C)
 gnomAD v4
3g.38556393C>TCA542270063SCN5Ac.4434+48G>A (n.4434+48G>A)
c.4437+48G>A (n.4437+48G>A)
c.4383+48G>A (n.4383+48G>A)
c.4275+48G>A (n.4275+48G>A)
c.4308+48G>A (n.4308+48G>A)
c.4380+48G>A (n.4380+48G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38556394C>ACA2665110924SCN5Ac.4434+47G>T (n.4434+47G>T)
c.4437+47G>T (n.4437+47G>T)
c.4383+47G>T (n.4383+47G>T)
c.4275+47G>T (n.4275+47G>T)
c.4308+47G>T (n.4308+47G>T)
c.4380+47G>T (n.4380+47G>T)
 gnomAD v4
3g.38556395C>ACA542270065SCN5Ac.4434+46G>T (n.4434+46G>T)
c.4437+46G>T (n.4437+46G>T)
c.4383+46G>T (n.4383+46G>T)
c.4275+46G>T (n.4275+46G>T)
c.4308+46G>T (n.4308+46G>T)
c.4380+46G>T (n.4380+46G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38556395C=CA1358563372SCN5Ac.4434+46G= (n.4434+46G=)
c.4437+46G= (n.4437+46G=)
c.4383+46G= (n.4383+46G=)
c.4275+46G= (n.4275+46G=)
c.4308+46G= (n.4308+46G=)
c.4380+46G= (n.4380+46G=)
3g.38556395C>GCA906897698SCN5Ac.4434+46G>C (n.4434+46G>C)
c.4437+46G>C (n.4437+46G>C)
c.4383+46G>C (n.4383+46G>C)
c.4275+46G>C (n.4275+46G>C)
c.4308+46G>C (n.4308+46G>C)
c.4380+46G>C (n.4380+46G>C)
 dbSNP
3g.38556395C>TCA063189SCN5Ac.4434+46G>A (n.4434+46G>A)
c.4437+46G>A (n.4437+46G>A)
c.4383+46G>A (n.4383+46G>A)
c.4275+46G>A (n.4275+46G>A)
c.4308+46G>A (n.4308+46G>A)
c.4380+46G>A (n.4380+46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556396G>ACA063185SCN5Ac.4434+45C>T (n.4434+45C>T)
c.4437+45C>T (n.4437+45C>T)
c.4383+45C>T (n.4383+45C>T)
c.4275+45C>T (n.4275+45C>T)
c.4308+45C>T (n.4308+45C>T)
c.4380+45C>T (n.4380+45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556396G=CA1358563373SCN5Ac.4434+45C= (n.4434+45C=)
c.4437+45C= (n.4437+45C=)
c.4383+45C= (n.4383+45C=)
c.4275+45C= (n.4275+45C=)
c.4308+45C= (n.4308+45C=)
c.4380+45C= (n.4380+45C=)
3g.38556397G>ACA2665110925SCN5Ac.4434+44C>T (n.4434+44C>T)
c.4437+44C>T (n.4437+44C>T)
c.4383+44C>T (n.4383+44C>T)
c.4275+44C>T (n.4275+44C>T)
c.4308+44C>T (n.4308+44C>T)
c.4380+44C>T (n.4380+44C>T)
 gnomAD v4
3g.38556397G>TCA2665110926SCN5Ac.4434+44C>A (n.4434+44C>A)
c.4437+44C>A (n.4437+44C>A)
c.4383+44C>A (n.4383+44C>A)
c.4275+44C>A (n.4275+44C>A)
c.4308+44C>A (n.4308+44C>A)
c.4380+44C>A (n.4380+44C>A)
 gnomAD v4
3g.38556398C>ACA2665110928SCN5Ac.4434+43G>T (n.4434+43G>T)
c.4437+43G>T (n.4437+43G>T)
c.4383+43G>T (n.4383+43G>T)
c.4275+43G>T (n.4275+43G>T)
c.4308+43G>T (n.4308+43G>T)
c.4380+43G>T (n.4380+43G>T)
 gnomAD v4
3g.38556398C=CA1358563374SCN5Ac.4434+43G= (n.4434+43G=)
c.4437+43G= (n.4437+43G=)
c.4383+43G= (n.4383+43G=)
c.4275+43G= (n.4275+43G=)
c.4308+43G= (n.4308+43G=)
c.4380+43G= (n.4380+43G=)
3g.38556398C>TCA542270067SCN5Ac.4434+43G>A (n.4434+43G>A)
c.4437+43G>A (n.4437+43G>A)
c.4383+43G>A (n.4383+43G>A)
c.4275+43G>A (n.4275+43G>A)
c.4308+43G>A (n.4308+43G>A)
c.4380+43G>A (n.4380+43G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38556401delCA2665110927SCN5Ac.4434+43del (n.4434+43del)
c.4437+43del (n.4437+43del)
c.4383+43del (n.4383+43del)
c.4275+43del (n.4275+43del)
c.4308+43del (n.4308+43del)
c.4380+43del (n.4380+43del)
 gnomAD v4
3g.38556399C>TCA2665110929SCN5Ac.4434+42G>A (n.4434+42G>A)
c.4437+42G>A (n.4437+42G>A)
c.4383+42G>A (n.4383+42G>A)
c.4275+42G>A (n.4275+42G>A)
c.4308+42G>A (n.4308+42G>A)
c.4380+42G>A (n.4380+42G>A)
 gnomAD v4
3g.38556400C>ACA2665110930SCN5Ac.4434+41G>T (n.4434+41G>T)
c.4437+41G>T (n.4437+41G>T)
c.4383+41G>T (n.4383+41G>T)
c.4275+41G>T (n.4275+41G>T)
c.4308+41G>T (n.4308+41G>T)
c.4380+41G>T (n.4380+41G>T)
 gnomAD v4
3g.38556400C=CA1358563375SCN5Ac.4434+41G= (n.4434+41G=)
c.4437+41G= (n.4437+41G=)
c.4383+41G= (n.4383+41G=)
c.4275+41G= (n.4275+41G=)
c.4308+41G= (n.4308+41G=)
c.4380+41G= (n.4380+41G=)
3g.38556400C>GCA2755901478SCN5Ac.4434+41G>C (n.4434+41G>C)
c.4437+41G>C (n.4437+41G>C)
c.4383+41G>C (n.4383+41G>C)
c.4275+41G>C (n.4275+41G>C)
c.4308+41G>C (n.4308+41G>C)
c.4380+41G>C (n.4380+41G>C)
3g.38556400C>TCA542270068SCN5Ac.4434+41G>A (n.4434+41G>A)
c.4437+41G>A (n.4437+41G>A)
c.4383+41G>A (n.4383+41G>A)
c.4275+41G>A (n.4275+41G>A)
c.4308+41G>A (n.4308+41G>A)
c.4380+41G>A (n.4380+41G>A)
 dbSNP gnomAD v2
3g.38556401C>ACA2665110931SCN5Ac.4434+40G>T (n.4434+40G>T)
c.4437+40G>T (n.4437+40G>T)
c.4383+40G>T (n.4383+40G>T)
c.4275+40G>T (n.4275+40G>T)
c.4308+40G>T (n.4308+40G>T)
c.4380+40G>T (n.4380+40G>T)
 gnomAD v4
3g.38556401C=CA1358563377SCN5Ac.4434+40G= (n.4434+40G=)
c.4437+40G= (n.4437+40G=)
c.4383+40G= (n.4383+40G=)
c.4275+40G= (n.4275+40G=)
c.4308+40G= (n.4308+40G=)
c.4380+40G= (n.4380+40G=)
3g.38556401C>TCA542270070SCN5Ac.4434+40G>A (n.4434+40G>A)
c.4437+40G>A (n.4437+40G>A)
c.4383+40G>A (n.4383+40G>A)
c.4275+40G>A (n.4275+40G>A)
c.4308+40G>A (n.4308+40G>A)
c.4380+40G>A (n.4380+40G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38556401_38556402insCCCCCACA2665110932SCN5Ac.4434+39_4434+40insTGGGGG (n.4434+39_4434+40insTGGGGG)
c.4437+39_4437+40insTGGGGG (n.4437+39_4437+40insTGGGGG)
c.4383+39_4383+40insTGGGGG (n.4383+39_4383+40insTGGGGG)
c.4275+39_4275+40insTGGGGG (n.4275+39_4275+40insTGGGGG)
c.4308+39_4308+40insTGGGGG (n.4308+39_4308+40insTGGGGG)
c.4380+39_4380+40insTGGGGG (n.4380+39_4380+40insTGGGGG)
 gnomAD v4
3g.38556402A>CCA2577553013SCN5Ac.4434+39T>G (n.4434+39T>G)
c.4437+39T>G (n.4437+39T>G)
c.4383+39T>G (n.4383+39T>G)
c.4275+39T>G (n.4275+39T>G)
c.4308+39T>G (n.4308+39T>G)
c.4380+39T>G (n.4380+39T>G)
 dbSNP gnomAD v4
3g.38556403C>ACA2665110933SCN5Ac.4434+38G>T (n.4434+38G>T)
c.4437+38G>T (n.4437+38G>T)
c.4383+38G>T (n.4383+38G>T)
c.4275+38G>T (n.4275+38G>T)
c.4308+38G>T (n.4308+38G>T)
c.4380+38G>T (n.4380+38G>T)
 gnomAD v4
3g.38556403C=CA1358563378SCN5Ac.4434+38G= (n.4434+38G=)
c.4437+38G= (n.4437+38G=)
c.4383+38G= (n.4383+38G=)
c.4275+38G= (n.4275+38G=)
c.4308+38G= (n.4308+38G=)
c.4380+38G= (n.4380+38G=)
3g.38556403C>TCA542270072SCN5Ac.4434+38G>A (n.4434+38G>A)
c.4437+38G>A (n.4437+38G>A)
c.4383+38G>A (n.4383+38G>A)
c.4275+38G>A (n.4275+38G>A)
c.4308+38G>A (n.4308+38G>A)
c.4380+38G>A (n.4380+38G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38556404C>TCA2665110934SCN5Ac.4434+37G>A (n.4434+37G>A)
c.4437+37G>A (n.4437+37G>A)
c.4383+37G>A (n.4383+37G>A)
c.4275+37G>A (n.4275+37G>A)
c.4308+37G>A (n.4308+37G>A)
c.4380+37G>A (n.4380+37G>A)
 gnomAD v4
3g.38556404_38556405insATTAAAAACA2755901486SCN5Ac.4434+36_4434+37insTTTTTAAT (n.4434+36_4434+37insTTTTTAAT)
c.4437+36_4437+37insTTTTTAAT (n.4437+36_4437+37insTTTTTAAT)
c.4383+36_4383+37insTTTTTAAT (n.4383+36_4383+37insTTTTTAAT)
c.4275+36_4275+37insTTTTTAAT (n.4275+36_4275+37insTTTTTAAT)
c.4308+36_4308+37insTTTTTAAT (n.4308+36_4308+37insTTTTTAAT)
c.4380+36_4380+37insTTTTTAAT (n.4380+36_4380+37insTTTTTAAT)
3g.38556405C>ACA2665110935SCN5Ac.4434+36G>T (n.4434+36G>T)
c.4437+36G>T (n.4437+36G>T)
c.4383+36G>T (n.4383+36G>T)
c.4275+36G>T (n.4275+36G>T)
c.4308+36G>T (n.4308+36G>T)
c.4380+36G>T (n.4380+36G>T)
 gnomAD v4
3g.38556405C=CA1358563379SCN5Ac.4434+36G= (n.4434+36G=)
c.4437+36G= (n.4437+36G=)
c.4383+36G= (n.4383+36G=)
c.4275+36G= (n.4275+36G=)
c.4308+36G= (n.4308+36G=)
c.4380+36G= (n.4380+36G=)
3g.38556405C>GCA2665110936SCN5Ac.4434+36G>C (n.4434+36G>C)
c.4437+36G>C (n.4437+36G>C)
c.4383+36G>C (n.4383+36G>C)
c.4275+36G>C (n.4275+36G>C)
c.4308+36G>C (n.4308+36G>C)
c.4380+36G>C (n.4380+36G>C)
 gnomAD v4
3g.38556405C>TCA906897715SCN5Ac.4434+36G>A (n.4434+36G>A)
c.4437+36G>A (n.4437+36G>A)
c.4383+36G>A (n.4383+36G>A)
c.4275+36G>A (n.4275+36G>A)
c.4308+36G>A (n.4308+36G>A)
c.4380+36G>A (n.4380+36G>A)
 dbSNP
3g.38556406T>ACA1046992764SCN5Ac.4434+35A>T (n.4434+35A>T)
c.4437+35A>T (n.4437+35A>T)
c.4383+35A>T (n.4383+35A>T)
c.4275+35A>T (n.4275+35A>T)
c.4308+35A>T (n.4308+35A>T)
c.4380+35A>T (n.4380+35A>T)
 gnomAD v3 gnomAD v4
3g.38556406T>CCA2665110937SCN5Ac.4434+35A>G (n.4434+35A>G)
c.4437+35A>G (n.4437+35A>G)
c.4383+35A>G (n.4383+35A>G)
c.4275+35A>G (n.4275+35A>G)
c.4308+35A>G (n.4308+35A>G)
c.4380+35A>G (n.4380+35A>G)
 gnomAD v4
3g.38556406T>GCA2665110938SCN5Ac.4434+35A>C (n.4434+35A>C)
c.4437+35A>C (n.4437+35A>C)
c.4383+35A>C (n.4383+35A>C)
c.4275+35A>C (n.4275+35A>C)
c.4308+35A>C (n.4308+35A>C)
c.4380+35A>C (n.4380+35A>C)
 gnomAD v4
3g.38556407A>GCA2702488140SCN5Ac.4434+34T>C (n.4434+34T>C)
c.4437+34T>C (n.4437+34T>C)
c.4383+34T>C (n.4383+34T>C)
c.4275+34T>C (n.4275+34T>C)
c.4308+34T>C (n.4308+34T>C)
c.4380+34T>C (n.4380+34T>C)
 dbSNP
3g.38556407_38556408insACCA2665110940SCN5Ac.4434+33_4434+34insGT (n.4434+33_4434+34insGT)
c.4437+33_4437+34insGT (n.4437+33_4437+34insGT)
c.4383+33_4383+34insGT (n.4383+33_4383+34insGT)
c.4275+33_4275+34insGT (n.4275+33_4275+34insGT)
c.4308+33_4308+34insGT (n.4308+33_4308+34insGT)
c.4380+33_4380+34insGT (n.4380+33_4380+34insGT)
 gnomAD v4
3g.38556408C>ACA2577553014SCN5Ac.4434+33G>T (n.4434+33G>T)
c.4437+33G>T (n.4437+33G>T)
c.4383+33G>T (n.4383+33G>T)
c.4275+33G>T (n.4275+33G>T)
c.4308+33G>T (n.4308+33G>T)
c.4380+33G>T (n.4380+33G>T)
 gnomAD v4
3g.38556410delCA2665110939SCN5Ac.4434+33del (n.4434+33del)
c.4437+33del (n.4437+33del)
c.4383+33del (n.4383+33del)
c.4275+33del (n.4275+33del)
c.4308+33del (n.4308+33del)
c.4380+33del (n.4380+33del)
 gnomAD v4
3g.38556409C>ACA2665110941SCN5Ac.4434+32G>T (n.4434+32G>T)
c.4437+32G>T (n.4437+32G>T)
c.4383+32G>T (n.4383+32G>T)
c.4275+32G>T (n.4275+32G>T)
c.4308+32G>T (n.4308+32G>T)
c.4380+32G>T (n.4380+32G>T)
 gnomAD v4
3g.38556409C=CA1358563381SCN5Ac.4434+32G= (n.4434+32G=)
c.4437+32G= (n.4437+32G=)
c.4383+32G= (n.4383+32G=)
c.4275+32G= (n.4275+32G=)
c.4308+32G= (n.4308+32G=)
c.4380+32G= (n.4380+32G=)
3g.38556409C>TCA063181SCN5Ac.4434+32G>A (n.4434+32G>A)
c.4437+32G>A (n.4437+32G>A)
c.4383+32G>A (n.4383+32G>A)
c.4275+32G>A (n.4275+32G>A)
c.4308+32G>A (n.4308+32G>A)
c.4380+32G>A (n.4380+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38556410C>ACA2665110942SCN5Ac.4434+31G>T (n.4434+31G>T)
c.4437+31G>T (n.4437+31G>T)
c.4383+31G>T (n.4383+31G>T)
c.4275+31G>T (n.4275+31G>T)
c.4308+31G>T (n.4308+31G>T)
c.4380+31G>T (n.4380+31G>T)
 gnomAD v4
3g.38556410C=CA1358563382SCN5Ac.4434+31G= (n.4434+31G=)
c.4437+31G= (n.4437+31G=)
c.4383+31G= (n.4383+31G=)
c.4275+31G= (n.4275+31G=)
c.4308+31G= (n.4308+31G=)
c.4380+31G= (n.4380+31G=)
3g.38556410C>GCA542270073SCN5Ac.4434+31G>C (n.4434+31G>C)
c.4437+31G>C (n.4437+31G>C)
c.4383+31G>C (n.4383+31G>C)
c.4275+31G>C (n.4275+31G>C)
c.4308+31G>C (n.4308+31G>C)
c.4380+31G>C (n.4380+31G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38556411A>CCA2665110944SCN5Ac.4434+30T>G (n.4434+30T>G)
c.4437+30T>G (n.4437+30T>G)
c.4383+30T>G (n.4383+30T>G)
c.4275+30T>G (n.4275+30T>G)
c.4308+30T>G (n.4308+30T>G)
c.4380+30T>G (n.4380+30T>G)
 gnomAD v4
3g.38556411A>TCA2665110945SCN5Ac.4434+30T>A (n.4434+30T>A)
c.4437+30T>A (n.4437+30T>A)
c.4383+30T>A (n.4383+30T>A)
c.4275+30T>A (n.4275+30T>A)
c.4308+30T>A (n.4308+30T>A)
c.4380+30T>A (n.4380+30T>A)
 gnomAD v4
3g.38556411_38556412delCA2665110943SCN5Ac.4434+29_4434+30del (n.4434+29_4434+30del)
c.4437+29_4437+30del (n.4437+29_4437+30del)
c.4383+29_4383+30del (n.4383+29_4383+30del)
c.4275+29_4275+30del (n.4275+29_4275+30del)
c.4308+29_4308+30del (n.4308+29_4308+30del)
c.4380+29_4380+30del (n.4380+29_4380+30del)
 gnomAD v4
3g.38556412G>ACA2665110946SCN5Ac.4434+29C>T (n.4434+29C>T)
c.4437+29C>T (n.4437+29C>T)
c.4383+29C>T (n.4383+29C>T)
c.4275+29C>T (n.4275+29C>T)
c.4308+29C>T (n.4308+29C>T)
c.4380+29C>T (n.4380+29C>T)
 gnomAD v4
3g.38556412G>CCA2573332090SCN5Ac.4434+29C>G (n.4434+29C>G)
c.4437+29C>G (n.4437+29C>G)
c.4383+29C>G (n.4383+29C>G)
c.4275+29C>G (n.4275+29C>G)
c.4308+29C>G (n.4308+29C>G)
c.4380+29C>G (n.4380+29C>G)
 gnomAD v4
3g.38556412G>TCA2665110947SCN5Ac.4434+29C>A (n.4434+29C>A)
c.4437+29C>A (n.4437+29C>A)
c.4383+29C>A (n.4383+29C>A)
c.4275+29C>A (n.4275+29C>A)
c.4308+29C>A (n.4308+29C>A)
c.4380+29C>A (n.4380+29C>A)
 gnomAD v4
3g.38556413C>ACA2740407059SCN5Ac.4434+28G>T (n.4434+28G>T)
c.4437+28G>T (n.4437+28G>T)
c.4383+28G>T (n.4383+28G>T)
c.4275+28G>T (n.4275+28G>T)
c.4308+28G>T (n.4308+28G>T)
c.4380+28G>T (n.4380+28G>T)
3g.38556413C>GCA2755901489SCN5Ac.4434+28G>C (n.4434+28G>C)
c.4437+28G>C (n.4437+28G>C)
c.4383+28G>C (n.4383+28G>C)
c.4275+28G>C (n.4275+28G>C)
c.4308+28G>C (n.4308+28G>C)
c.4380+28G>C (n.4380+28G>C)
3g.38556413C>TCA2665110948SCN5Ac.4434+28G>A (n.4434+28G>A)
c.4437+28G>A (n.4437+28G>A)
c.4383+28G>A (n.4383+28G>A)
c.4275+28G>A (n.4275+28G>A)
c.4308+28G>A (n.4308+28G>A)
c.4380+28G>A (n.4380+28G>A)
 gnomAD v4
3g.38556414C>ACA2665110949SCN5Ac.4434+27G>T (n.4434+27G>T)
c.4437+27G>T (n.4437+27G>T)
c.4383+27G>T (n.4383+27G>T)
c.4275+27G>T (n.4275+27G>T)
c.4308+27G>T (n.4308+27G>T)
c.4380+27G>T (n.4380+27G>T)
 gnomAD v4
3g.38556415C>ACA2665110950SCN5Ac.4434+26G>T (n.4434+26G>T)
c.4437+26G>T (n.4437+26G>T)
c.4383+26G>T (n.4383+26G>T)
c.4275+26G>T (n.4275+26G>T)
c.4308+26G>T (n.4308+26G>T)
c.4380+26G>T (n.4380+26G>T)
 gnomAD v4
3g.38556415C=CA1358563384SCN5Ac.4434+26G= (n.4434+26G=)
c.4437+26G= (n.4437+26G=)
c.4383+26G= (n.4383+26G=)
c.4275+26G= (n.4275+26G=)
c.4308+26G= (n.4308+26G=)
c.4380+26G= (n.4380+26G=)
3g.38556415C>GCA063178SCN5Ac.4434+26G>C (n.4434+26G>C)
c.4437+26G>C (n.4437+26G>C)
c.4383+26G>C (n.4383+26G>C)
c.4275+26G>C (n.4275+26G>C)
c.4308+26G>C (n.4308+26G>C)
c.4380+26G>C (n.4380+26G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556415C>TCA2665110951SCN5Ac.4434+26G>A (n.4434+26G>A)
c.4437+26G>A (n.4437+26G>A)
c.4383+26G>A (n.4383+26G>A)
c.4275+26G>A (n.4275+26G>A)
c.4308+26G>A (n.4308+26G>A)
c.4380+26G>A (n.4380+26G>A)
 gnomAD v4
3g.38556416A=CA1358563386SCN5Ac.4434+25T= (n.4434+25T=)
c.4437+25T= (n.4437+25T=)
c.4383+25T= (n.4383+25T=)
c.4275+25T= (n.4275+25T=)
c.4308+25T= (n.4308+25T=)
c.4380+25T= (n.4380+25T=)
3g.38556416A>CCA906897724SCN5Ac.4434+25T>G (n.4434+25T>G)
c.4437+25T>G (n.4437+25T>G)
c.4383+25T>G (n.4383+25T>G)
c.4275+25T>G (n.4275+25T>G)
c.4308+25T>G (n.4308+25T>G)
c.4380+25T>G (n.4380+25T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38556417G>ACA2665110952SCN5Ac.4434+24C>T (n.4434+24C>T)
c.4437+24C>T (n.4437+24C>T)
c.4383+24C>T (n.4383+24C>T)
c.4275+24C>T (n.4275+24C>T)
c.4308+24C>T (n.4308+24C>T)
c.4380+24C>T (n.4380+24C>T)
 gnomAD v4
3g.38556417G>CCA658776860SCN5Ac.4434+24C>G (n.4434+24C>G)
c.4437+24C>G (n.4437+24C>G)
c.4383+24C>G (n.4383+24C>G)
c.4275+24C>G (n.4275+24C>G)
c.4308+24C>G (n.4308+24C>G)
c.4380+24C>G (n.4380+24C>G)
 gnomAD v4
3g.38556418T>GCA2665110953SCN5Ac.4434+23A>C (n.4434+23A>C)
c.4437+23A>C (n.4437+23A>C)
c.4383+23A>C (n.4383+23A>C)
c.4275+23A>C (n.4275+23A>C)
c.4308+23A>C (n.4308+23A>C)
c.4380+23A>C (n.4380+23A>C)
 gnomAD v4
3g.38556419G>ACA542270074SCN5Ac.4434+22C>T (n.4434+22C>T)
c.4437+22C>T (n.4437+22C>T)
c.4383+22C>T (n.4383+22C>T)
c.4275+22C>T (n.4275+22C>T)
c.4308+22C>T (n.4308+22C>T)
c.4380+22C>T (n.4380+22C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38556419G=CA1358563387SCN5Ac.4434+22C= (n.4434+22C=)
c.4437+22C= (n.4437+22C=)
c.4383+22C= (n.4383+22C=)
c.4275+22C= (n.4275+22C=)
c.4308+22C= (n.4308+22C=)
c.4380+22C= (n.4380+22C=)
3g.38556419G>TCA2665110954SCN5Ac.4434+22C>A (n.4434+22C>A)
c.4437+22C>A (n.4437+22C>A)
c.4383+22C>A (n.4383+22C>A)
c.4275+22C>A (n.4275+22C>A)
c.4308+22C>A (n.4308+22C>A)
c.4380+22C>A (n.4380+22C>A)
 gnomAD v4
3g.38556420G>TCA2665110955SCN5Ac.4434+21C>A (n.4434+21C>A)
c.4437+21C>A (n.4437+21C>A)
c.4383+21C>A (n.4383+21C>A)
c.4275+21C>A (n.4275+21C>A)
c.4308+21C>A (n.4308+21C>A)
c.4380+21C>A (n.4380+21C>A)
 gnomAD v4
3g.38556421G>ACA2665110956SCN5Ac.4434+20C>T (n.4434+20C>T)
c.4437+20C>T (n.4437+20C>T)
c.4383+20C>T (n.4383+20C>T)
c.4275+20C>T (n.4275+20C>T)
c.4308+20C>T (n.4308+20C>T)
c.4380+20C>T (n.4380+20C>T)
 gnomAD v4
3g.38556421G>TCA2665110957SCN5Ac.4434+20C>A (n.4434+20C>A)
c.4437+20C>A (n.4437+20C>A)
c.4383+20C>A (n.4383+20C>A)
c.4275+20C>A (n.4275+20C>A)
c.4308+20C>A (n.4308+20C>A)
c.4380+20C>A (n.4380+20C>A)
 gnomAD v4
3g.38556422G>TCA2577553015SCN5Ac.4434+19C>A (n.4434+19C>A)
c.4437+19C>A (n.4437+19C>A)
c.4383+19C>A (n.4383+19C>A)
c.4275+19C>A (n.4275+19C>A)
c.4308+19C>A (n.4308+19C>A)
c.4380+19C>A (n.4380+19C>A)
 gnomAD v4
3g.38556423A=CA1358563388SCN5Ac.4434+18T= (n.4434+18T=)
c.4437+18T= (n.4437+18T=)
c.4383+18T= (n.4383+18T=)
c.4275+18T= (n.4275+18T=)
c.4308+18T= (n.4308+18T=)
c.4380+18T= (n.4380+18T=)
3g.38556423A>CCA2665110958SCN5Ac.4434+18T>G (n.4434+18T>G)
c.4437+18T>G (n.4437+18T>G)
c.4383+18T>G (n.4383+18T>G)
c.4275+18T>G (n.4275+18T>G)
c.4308+18T>G (n.4308+18T>G)
c.4380+18T>G (n.4380+18T>G)
 gnomAD v4
3g.38556423A>GCA906897728SCN5Ac.4434+18T>C (n.4434+18T>C)
c.4437+18T>C (n.4437+18T>C)
c.4383+18T>C (n.4383+18T>C)
c.4275+18T>C (n.4275+18T>C)
c.4308+18T>C (n.4308+18T>C)
c.4380+18T>C (n.4380+18T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.38556423A>TCA2665110959SCN5Ac.4434+18T>A (n.4434+18T>A)
c.4437+18T>A (n.4437+18T>A)
c.4383+18T>A (n.4383+18T>A)
c.4275+18T>A (n.4275+18T>A)
c.4308+18T>A (n.4308+18T>A)
c.4380+18T>A (n.4380+18T>A)
 gnomAD v4
3g.38556424G>ACA16604911SCN5Ac.4434+17C>T (n.4434+17C>T)
c.4437+17C>T (n.4437+17C>T)
c.4383+17C>T (n.4383+17C>T)
c.4275+17C>T (n.4275+17C>T)
c.4308+17C>T (n.4308+17C>T)
c.4380+17C>T (n.4380+17C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556424G=CA1358563390SCN5Ac.4434+17C= (n.4434+17C=)
c.4437+17C= (n.4437+17C=)
c.4383+17C= (n.4383+17C=)
c.4275+17C= (n.4275+17C=)
c.4308+17C= (n.4308+17C=)
c.4380+17C= (n.4380+17C=)
3g.38556424G>TCA2665110960SCN5Ac.4434+17C>A (n.4434+17C>A)
c.4437+17C>A (n.4437+17C>A)
c.4383+17C>A (n.4383+17C>A)
c.4275+17C>A (n.4275+17C>A)
c.4308+17C>A (n.4308+17C>A)
c.4380+17C>A (n.4380+17C>A)
 gnomAD v4
3g.38556425C>ACA2665110961SCN5Ac.4434+16G>T (n.4434+16G>T)
c.4437+16G>T (n.4437+16G>T)
c.4383+16G>T (n.4383+16G>T)
c.4275+16G>T (n.4275+16G>T)
c.4308+16G>T (n.4308+16G>T)
c.4380+16G>T (n.4380+16G>T)
 gnomAD v4
3g.38556425C>GCA2665110963SCN5Ac.4434+16G>C (n.4434+16G>C)
c.4437+16G>C (n.4437+16G>C)
c.4383+16G>C (n.4383+16G>C)
c.4275+16G>C (n.4275+16G>C)
c.4308+16G>C (n.4308+16G>C)
c.4380+16G>C (n.4380+16G>C)
 gnomAD v4
3g.38556425C>TCA2665110962SCN5Ac.4434+16G>A (n.4434+16G>A)
c.4437+16G>A (n.4437+16G>A)
c.4383+16G>A (n.4383+16G>A)
c.4275+16G>A (n.4275+16G>A)
c.4308+16G>A (n.4308+16G>A)
c.4380+16G>A (n.4380+16G>A)
 gnomAD v4
3g.38556426T>CCA2665110964SCN5Ac.4434+15A>G (n.4434+15A>G)
c.4437+15A>G (n.4437+15A>G)
c.4383+15A>G (n.4383+15A>G)
c.4275+15A>G (n.4275+15A>G)
c.4308+15A>G (n.4308+15A>G)
c.4380+15A>G (n.4380+15A>G)
 gnomAD v4
3g.38556426T>GCA72943288SCN5Ac.4434+15A>C (n.4434+15A>C)
c.4437+15A>C (n.4437+15A>C)
c.4383+15A>C (n.4383+15A>C)
c.4275+15A>C (n.4275+15A>C)
c.4308+15A>C (n.4308+15A>C)
c.4380+15A>C (n.4380+15A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556426T=CA1358563391SCN5Ac.4434+15A= (n.4434+15A=)
c.4437+15A= (n.4437+15A=)
c.4383+15A= (n.4383+15A=)
c.4275+15A= (n.4275+15A=)
c.4308+15A= (n.4308+15A=)
c.4380+15A= (n.4380+15A=)
3g.38556427G>ACA2665110965SCN5Ac.4434+14C>T (n.4434+14C>T)
c.4437+14C>T (n.4437+14C>T)
c.4383+14C>T (n.4383+14C>T)
c.4275+14C>T (n.4275+14C>T)
c.4308+14C>T (n.4308+14C>T)
c.4380+14C>T (n.4380+14C>T)
 gnomAD v4
3g.38556427G>TCA2665110966SCN5Ac.4434+14C>A (n.4434+14C>A)
c.4437+14C>A (n.4437+14C>A)
c.4383+14C>A (n.4383+14C>A)
c.4275+14C>A (n.4275+14C>A)
c.4308+14C>A (n.4308+14C>A)
c.4380+14C>A (n.4380+14C>A)
 gnomAD v4
3g.38556428G>ACA018259SCN5Ac.4434+13C>T (n.4434+13C>T)
c.4437+13C>T (n.4437+13C>T)
c.4383+13C>T (n.4383+13C>T)
c.4275+13C>T (n.4275+13C>T)
c.4308+13C>T (n.4308+13C>T)
c.4380+13C>T (n.4380+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556428G>CCA2739278198SCN5Ac.4434+13C>G (n.4434+13C>G)
c.4437+13C>G (n.4437+13C>G)
c.4383+13C>G (n.4383+13C>G)
c.4275+13C>G (n.4275+13C>G)
c.4308+13C>G (n.4308+13C>G)
c.4380+13C>G (n.4380+13C>G)
 ClinVar
3g.38556428G=CA1358563393SCN5Ac.4434+13C= (n.4434+13C=)
c.4437+13C= (n.4437+13C=)
c.4383+13C= (n.4383+13C=)
c.4275+13C= (n.4275+13C=)
c.4308+13C= (n.4308+13C=)
c.4380+13C= (n.4380+13C=)
3g.38556429T>CCA2665110967SCN5Ac.4434+12A>G (n.4434+12A>G)
c.4437+12A>G (n.4437+12A>G)
c.4383+12A>G (n.4383+12A>G)
c.4275+12A>G (n.4275+12A>G)
c.4308+12A>G (n.4308+12A>G)
c.4380+12A>G (n.4380+12A>G)
 gnomAD v4
3g.38556430G>ACA063173SCN5Ac.4434+11C>T (n.4434+11C>T)
c.4437+11C>T (n.4437+11C>T)
c.4383+11C>T (n.4383+11C>T)
c.4275+11C>T (n.4275+11C>T)
c.4308+11C>T (n.4308+11C>T)
c.4380+11C>T (n.4380+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38556430G>CCA2558498159SCN5Ac.4434+11C>G (n.4434+11C>G)
c.4437+11C>G (n.4437+11C>G)
c.4383+11C>G (n.4383+11C>G)
c.4275+11C>G (n.4275+11C>G)
c.4308+11C>G (n.4308+11C>G)
c.4380+11C>G (n.4380+11C>G)
 gnomAD v4
3g.38556430G=CA1358563394SCN5Ac.4434+11C= (n.4434+11C=)
c.4437+11C= (n.4437+11C=)
c.4383+11C= (n.4383+11C=)
c.4275+11C= (n.4275+11C=)
c.4308+11C= (n.4308+11C=)
c.4380+11C= (n.4380+11C=)
3g.38556430G>TCA2665110968SCN5Ac.4434+11C>A (n.4434+11C>A)
c.4437+11C>A (n.4437+11C>A)
c.4383+11C>A (n.4383+11C>A)
c.4275+11C>A (n.4275+11C>A)
c.4308+11C>A (n.4308+11C>A)
c.4380+11C>A (n.4380+11C>A)
 gnomAD v4
3g.38556431C>ACA2665110969SCN5Ac.4434+10G>T (n.4434+10G>T)
c.4437+10G>T (n.4437+10G>T)
c.4383+10G>T (n.4383+10G>T)
c.4275+10G>T (n.4275+10G>T)
c.4308+10G>T (n.4308+10G>T)
c.4380+10G>T (n.4380+10G>T)
 gnomAD v4
3g.38556431C=CA1358563396SCN5Ac.4434+10G= (n.4434+10G=)
c.4437+10G= (n.4437+10G=)
c.4383+10G= (n.4383+10G=)
c.4275+10G= (n.4275+10G=)
c.4308+10G= (n.4308+10G=)
c.4380+10G= (n.4380+10G=)
3g.38556431C>TCA1046992772SCN5Ac.4434+10G>A (n.4434+10G>A)
c.4437+10G>A (n.4437+10G>A)
c.4383+10G>A (n.4383+10G>A)
c.4275+10G>A (n.4275+10G>A)
c.4308+10G>A (n.4308+10G>A)
c.4380+10G>A (n.4380+10G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38556433_38556434dupCA2577553016SCN5Ac.4434+9_4434+10dup (n.4434+9_4434+10dup)
c.4437+9_4437+10dup (n.4437+9_4437+10dup)
c.4383+9_4383+10dup (n.4383+9_4383+10dup)
c.4275+9_4275+10dup (n.4275+9_4275+10dup)
c.4308+9_4308+10dup (n.4308+9_4308+10dup)
c.4380+9_4380+10dup (n.4380+9_4380+10dup)
3g.38556433C>ACA2665110971SCN5Ac.4434+8G>T (n.4434+8G>T)
c.4437+8G>T (n.4437+8G>T)
c.4383+8G>T (n.4383+8G>T)
c.4275+8G>T (n.4275+8G>T)
c.4308+8G>T (n.4308+8G>T)
c.4380+8G>T (n.4380+8G>T)
 gnomAD v4
3g.38556433C>GCA645530245SCN5Ac.4434+8G>C (n.4434+8G>C)
c.4437+8G>C (n.4437+8G>C)
c.4383+8G>C (n.4383+8G>C)
c.4275+8G>C (n.4275+8G>C)
c.4308+8G>C (n.4308+8G>C)
c.4380+8G>C (n.4380+8G>C)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38556433C>TCA2665110970SCN5Ac.4434+8G>A (n.4434+8G>A)
c.4437+8G>A (n.4437+8G>A)
c.4383+8G>A (n.4383+8G>A)
c.4275+8G>A (n.4275+8G>A)
c.4308+8G>A (n.4308+8G>A)
c.4380+8G>A (n.4380+8G>A)
 gnomAD v4
3g.38556434T>CCA906897738SCN5Ac.4434+7A>G (n.4434+7A>G)
c.4437+7A>G (n.4437+7A>G)
c.4383+7A>G (n.4383+7A>G)
c.4275+7A>G (n.4275+7A>G)
c.4308+7A>G (n.4308+7A>G)
c.4380+7A>G (n.4380+7A>G)
 dbSNP gnomAD v4
3g.38556434T=CA1358563397SCN5Ac.4434+7A= (n.4434+7A=)
c.4437+7A= (n.4437+7A=)
c.4383+7A= (n.4383+7A=)
c.4275+7A= (n.4275+7A=)
c.4308+7A= (n.4308+7A=)
c.4380+7A= (n.4380+7A=)
3g.38556435A>GCA2499216730SCN5Ac.4434+6T>C (n.4434+6T>C)
c.4437+6T>C (n.4437+6T>C)
c.4383+6T>C (n.4383+6T>C)
c.4275+6T>C (n.4275+6T>C)
c.4308+6T>C (n.4308+6T>C)
c.4380+6T>C (n.4380+6T>C)
 ClinVar dbSNP gnomAD v4
3g.38556436C=CA1358563399SCN5Ac.4434+5G= (n.4434+5G=)
c.4437+5G= (n.4437+5G=)
c.4383+5G= (n.4383+5G=)
c.4275+5G= (n.4275+5G=)
c.4308+5G= (n.4308+5G=)
c.4380+5G= (n.4380+5G=)
3g.38556436C>TCA16604562SCN5Ac.4434+5G>A (n.4434+5G>A)
c.4437+5G>A (n.4437+5G>A)
c.4383+5G>A (n.4383+5G>A)
c.4275+5G>A (n.4275+5G>A)
c.4308+5G>A (n.4308+5G>A)
c.4380+5G>A (n.4380+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38556437G>ACA063195SCN5Ac.4434+4C>T (n.4434+4C>T)
c.4437+4C>T (n.4437+4C>T)
c.4383+4C>T (n.4383+4C>T)
c.4275+4C>T (n.4275+4C>T)
c.4308+4C>T (n.4308+4C>T)
c.4380+4C>T (n.4380+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556437G>CCA063192SCN5Ac.4434+4C>G (n.4434+4C>G)
c.4437+4C>G (n.4437+4C>G)
c.4383+4C>G (n.4383+4C>G)
c.4275+4C>G (n.4275+4C>G)
c.4308+4C>G (n.4308+4C>G)
c.4380+4C>G (n.4380+4C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556437G=CA1358563403SCN5Ac.4434+4C= (n.4434+4C=)
c.4437+4C= (n.4437+4C=)
c.4383+4C= (n.4383+4C=)
c.4275+4C= (n.4275+4C=)
c.4308+4C= (n.4308+4C=)
c.4380+4C= (n.4380+4C=)
3g.38556437G>TCA2665110972SCN5Ac.4434+4C>A (n.4434+4C>A)
c.4437+4C>A (n.4437+4C>A)
c.4383+4C>A (n.4383+4C>A)
c.4275+4C>A (n.4275+4C>A)
c.4308+4C>A (n.4308+4C>A)
c.4380+4C>A (n.4380+4C>A)
 gnomAD v4
3g.38556438T>CCA542270077SCN5Ac.4434+3A>G (n.4434+3A>G)
c.4437+3A>G (n.4437+3A>G)
c.4383+3A>G (n.4383+3A>G)
c.4275+3A>G (n.4275+3A>G)
c.4308+3A>G (n.4308+3A>G)
c.4380+3A>G (n.4380+3A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38556438T=CA1358563404SCN5Ac.4434+3A= (n.4434+3A=)
c.4437+3A= (n.4437+3A=)
c.4383+3A= (n.4383+3A=)
c.4275+3A= (n.4275+3A=)
c.4308+3A= (n.4308+3A=)
c.4380+3A= (n.4380+3A=)
3g.38556439A>CCA352145198SCN5Ac.4434+2T>G (n.4434+2T>G)
c.4437+2T>G (n.4437+2T>G)
c.4383+2T>G (n.4383+2T>G)
c.4275+2T>G (n.4275+2T>G)
c.4308+2T>G (n.4308+2T>G)
c.4380+2T>G (n.4380+2T>G)
3g.38556439A>GCA352145199SCN5Ac.4434+2T>C (n.4434+2T>C)
c.4437+2T>C (n.4437+2T>C)
c.4383+2T>C (n.4383+2T>C)
c.4275+2T>C (n.4275+2T>C)
c.4308+2T>C (n.4308+2T>C)
c.4380+2T>C (n.4380+2T>C)
3g.38556439A>TCA352145200SCN5Ac.4434+2T>A (n.4434+2T>A)
c.4437+2T>A (n.4437+2T>A)
c.4383+2T>A (n.4383+2T>A)
c.4275+2T>A (n.4275+2T>A)
c.4308+2T>A (n.4308+2T>A)
c.4380+2T>A (n.4380+2T>A)
3g.38556440T>ACA352145201SCN5Ac.4434+1A>T (n.4434+1A>T)
c.4437+1A>T (n.4437+1A>T)
c.4383+1A>T (n.4383+1A>T)
c.4275+1A>T (n.4275+1A>T)
c.4308+1A>T (n.4308+1A>T)
c.4380+1A>T (n.4380+1A>T)
 dbSNP
3g.38556440T>CCA352145202SCN5Ac.4434+1A>G (n.4434+1A>G)
c.4437+1A>G (n.4437+1A>G)
c.4383+1A>G (n.4383+1A>G)
c.4275+1A>G (n.4275+1A>G)
c.4308+1A>G (n.4308+1A>G)
c.4380+1A>G (n.4380+1A>G)
3g.38556440T>GCA352145203SCN5Ac.4434+1A>C (n.4434+1A>C)
c.4437+1A>C (n.4437+1A>C)
c.4383+1A>C (n.4383+1A>C)
c.4275+1A>C (n.4275+1A>C)
c.4308+1A>C (n.4308+1A>C)
c.4380+1A>C (n.4380+1A>C)
3g.38556440T=CA1358563406SCN5Ac.4434+1A= (n.4434+1A=)
c.4437+1A= (n.4437+1A=)
c.4383+1A= (n.4383+1A=)
c.4275+1A= (n.4275+1A=)
c.4308+1A= (n.4308+1A=)
c.4380+1A= (n.4380+1A=)
3g.38556441_38556443delCA2586965719SCN5Ac.4433_4434+1del
c.4436_4437+1del
c.4382_4383+1del
c.4274_4275+1del
c.4307_4308+1del
c.4379_4380+1del
3g.38556441C>ACA352145204SCN5Ac.4434G>T (p.Lys1478Asn)
c.4437G>T (p.Lys1479Asn)
c.4383G>T (p.Lys1461Asn)
c.4275G>T (p.Lys1425Asn)
c.4308G>T (p.Lys1436Asn)
c.4380G>T (p.Lys1460Asn)
 gnomAD v4
3g.38556441C>GCA352145205SCN5Ac.4434G>C (p.Lys1478Asn)
c.4437G>C (p.Lys1479Asn)
c.4383G>C (p.Lys1461Asn)
c.4275G>C (p.Lys1425Asn)
c.4308G>C (p.Lys1436Asn)
c.4380G>C (p.Lys1460Asn)
3g.38556441C>TCA433136005SCN5Ac.4434G>A (p.Lys1478=)
c.4437G>A (p.Lys1479=)
c.4383G>A (p.Lys1461=)
c.4275G>A (p.Lys1425=)
c.4308G>A (p.Lys1436=)
c.4380G>A (p.Lys1460=)
3g.38556442T>ACA352145208SCN5Ac.4433A>T (p.Lys1478Met)
c.4436A>T (p.Lys1479Met)
c.4382A>T (p.Lys1461Met)
c.4274A>T (p.Lys1425Met)
c.4307A>T (p.Lys1436Met)
c.4379A>T (p.Lys1460Met)
3g.38556442T>CCA352145207SCN5Ac.4433A>G (p.Lys1478Arg)
c.4436A>G (p.Lys1479Arg)
c.4382A>G (p.Lys1461Arg)
c.4274A>G (p.Lys1425Arg)
c.4307A>G (p.Lys1436Arg)
c.4379A>G (p.Lys1460Arg)
3g.38556442T>GCA352145206SCN5Ac.4433A>C (p.Lys1478Thr)
c.4436A>C (p.Lys1479Thr)
c.4382A>C (p.Lys1461Thr)
c.4274A>C (p.Lys1425Thr)
c.4307A>C (p.Lys1436Thr)
c.4379A>C (p.Lys1460Thr)
3g.38556446delCA2665110973SCN5Ac.4433del (p.Lys1478SerfsTer2)
c.4436del (p.Lys1479SerfsTer2)
c.4382del (p.Lys1461SerfsTer2)
c.4274del (p.Lys1425SerfsTer2)
c.4307del (p.Lys1436SerfsTer2)
c.4379del (p.Lys1460SerfsTer2)
 gnomAD v4
3g.38556443T>ACA352145209SCN5Ac.4432A>T (p.Lys1478Ter)
c.4435A>T (p.Lys1479Ter)
c.4381A>T (p.Lys1461Ter)
c.4273A>T (p.Lys1425Ter)
c.4306A>T (p.Lys1436Ter)
c.4378A>T (p.Lys1460Ter)
 dbSNP
3g.38556443T>CCA352145210SCN5Ac.4432A>G (p.Lys1478Glu)
c.4435A>G (p.Lys1479Glu)
c.4381A>G (p.Lys1461Glu)
c.4273A>G (p.Lys1425Glu)
c.4306A>G (p.Lys1436Glu)
c.4378A>G (p.Lys1460Glu)
3g.38556443T>GCA352145211SCN5Ac.4432A>C (p.Lys1478Gln)
c.4435A>C (p.Lys1479Gln)
c.4381A>C (p.Lys1461Gln)
c.4273A>C (p.Lys1425Gln)
c.4306A>C (p.Lys1436Gln)
c.4378A>C (p.Lys1460Gln)
3g.38556443T=CA1358563408SCN5Ac.4432A= (p.Lys1478=)
c.4435A= (p.Lys1479=)
c.4381A= (p.Lys1461=)
c.4273A= (p.Lys1425=)
c.4306A= (p.Lys1436=)
c.4378A= (p.Lys1460=)
3g.38556444T>ACA352145212SCN5Ac.4431A>T (p.Lys1477Asn)
c.4434A>T (p.Lys1478Asn)
c.4380A>T (p.Lys1460Asn)
c.4272A>T (p.Lys1424Asn)
c.4305A>T (p.Lys1435Asn)
c.4377A>T (p.Lys1459Asn)
3g.38556444T>CCA433136007SCN5Ac.4431A>G (p.Lys1477=)
c.4434A>G (p.Lys1478=)
c.4380A>G (p.Lys1460=)
c.4272A>G (p.Lys1424=)
c.4305A>G (p.Lys1435=)
c.4377A>G (p.Lys1459=)
3g.38556444T>GCA352145213SCN5Ac.4431A>C (p.Lys1477Asn)
c.4434A>C (p.Lys1478Asn)
c.4380A>C (p.Lys1460Asn)
c.4272A>C (p.Lys1424Asn)
c.4305A>C (p.Lys1435Asn)
c.4377A>C (p.Lys1459Asn)
3g.38556445T>ACA352145214SCN5Ac.4430A>T (p.Lys1477Ile)
c.4433A>T (p.Lys1478Ile)
c.4379A>T (p.Lys1460Ile)
c.4271A>T (p.Lys1424Ile)
c.4304A>T (p.Lys1435Ile)
c.4376A>T (p.Lys1459Ile)
3g.38556445T>CCA352145215SCN5Ac.4430A>G (p.Lys1477Arg)
c.4433A>G (p.Lys1478Arg)
c.4379A>G (p.Lys1460Arg)
c.4271A>G (p.Lys1424Arg)
c.4304A>G (p.Lys1435Arg)
c.4376A>G (p.Lys1459Arg)
3g.38556445T>GCA352145216SCN5Ac.4430A>C (p.Lys1477Thr)
c.4433A>C (p.Lys1478Thr)
c.4379A>C (p.Lys1460Thr)
c.4271A>C (p.Lys1424Thr)
c.4304A>C (p.Lys1435Thr)
c.4376A>C (p.Lys1459Thr)
3g.38556446T>ACA352145217SCN5Ac.4429A>T (p.Lys1477Ter)
c.4432A>T (p.Lys1478Ter)
c.4378A>T (p.Lys1460Ter)
c.4270A>T (p.Lys1424Ter)
c.4303A>T (p.Lys1435Ter)
c.4375A>T (p.Lys1459Ter)
 ClinVar dbSNP
3g.38556446T>CCA352145218SCN5Ac.4429A>G (p.Lys1477Glu)
c.4432A>G (p.Lys1478Glu)
c.4378A>G (p.Lys1460Glu)
c.4270A>G (p.Lys1424Glu)
c.4303A>G (p.Lys1435Glu)
c.4375A>G (p.Lys1459Glu)
 dbSNP gnomAD v2 gnomAD v4
3g.38556446T>GCA352145219SCN5Ac.4429A>C (p.Lys1477Gln)
c.4432A>C (p.Lys1478Gln)
c.4378A>C (p.Lys1460Gln)
c.4270A>C (p.Lys1424Gln)
c.4303A>C (p.Lys1435Gln)
c.4375A>C (p.Lys1459Gln)
3g.38556446T=CA1358563409SCN5Ac.4429A= (p.Lys1477=)
c.4432A= (p.Lys1478=)
c.4378A= (p.Lys1460=)
c.4270A= (p.Lys1424=)
c.4303A= (p.Lys1435=)
c.4375A= (p.Lys1459=)
3g.38556447C>ACA352145220SCN5Ac.4428G>T (p.Lys1476Asn)
c.4431G>T (p.Lys1477Asn)
c.4377G>T (p.Lys1459Asn)
c.4269G>T (p.Lys1423Asn)
c.4302G>T (p.Lys1434Asn)
c.4374G>T (p.Lys1458Asn)
3g.38556447C>GCA352145221SCN5Ac.4428G>C (p.Lys1476Asn)
c.4431G>C (p.Lys1477Asn)
c.4377G>C (p.Lys1459Asn)
c.4269G>C (p.Lys1423Asn)
c.4302G>C (p.Lys1434Asn)
c.4374G>C (p.Lys1458Asn)
 gnomAD v4
3g.38556447C>TCA433136008SCN5Ac.4428G>A (p.Lys1476=)
c.4431G>A (p.Lys1477=)
c.4377G>A (p.Lys1459=)
c.4269G>A (p.Lys1423=)
c.4302G>A (p.Lys1434=)
c.4374G>A (p.Lys1458=)
3g.38556448T>ACA352145224SCN5Ac.4427A>T (p.Lys1476Met)
c.4430A>T (p.Lys1477Met)
c.4376A>T (p.Lys1459Met)
c.4268A>T (p.Lys1423Met)
c.4301A>T (p.Lys1434Met)
c.4373A>T (p.Lys1458Met)
3g.38556448T>CCA352145223SCN5Ac.4427A>G (p.Lys1476Arg)
c.4430A>G (p.Lys1477Arg)
c.4376A>G (p.Lys1459Arg)
c.4268A>G (p.Lys1423Arg)
c.4301A>G (p.Lys1434Arg)
c.4373A>G (p.Lys1458Arg)
3g.38556448T>GCA352145222SCN5Ac.4427A>C (p.Lys1476Thr)
c.4430A>C (p.Lys1477Thr)
c.4376A>C (p.Lys1459Thr)
c.4268A>C (p.Lys1423Thr)
c.4301A>C (p.Lys1434Thr)
c.4373A>C (p.Lys1458Thr)
 ClinVar
3g.38556449delCA2755901503SCN5Ac.4427del (p.Lys1476ArgfsTer4)
c.4430del (p.Lys1477ArgfsTer4)
c.4376del (p.Lys1459ArgfsTer4)
c.4268del (p.Lys1423ArgfsTer4)
c.4301del (p.Lys1434ArgfsTer4)
c.4373del (p.Lys1458ArgfsTer4)
3g.38556449T>ACA352145227SCN5Ac.4426A>T (p.Lys1476Ter)
c.4429A>T (p.Lys1477Ter)
c.4375A>T (p.Lys1459Ter)
c.4267A>T (p.Lys1423Ter)
c.4300A>T (p.Lys1434Ter)
c.4372A>T (p.Lys1458Ter)
 dbSNP
3g.38556449T>CCA352145225SCN5Ac.4426A>G (p.Lys1476Glu)
c.4429A>G (p.Lys1477Glu)
c.4375A>G (p.Lys1459Glu)
c.4267A>G (p.Lys1423Glu)
c.4300A>G (p.Lys1434Glu)
c.4372A>G (p.Lys1458Glu)
 ClinVar
3g.38556449T>GCA352145226SCN5Ac.4426A>C (p.Lys1476Gln)
c.4429A>C (p.Lys1477Gln)
c.4375A>C (p.Lys1459Gln)
c.4267A>C (p.Lys1423Gln)
c.4300A>C (p.Lys1434Gln)
c.4372A>C (p.Lys1458Gln)
3g.38556449T=CA1358563411SCN5Ac.4426A= (p.Lys1476=)
c.4429A= (p.Lys1477=)
c.4375A= (p.Lys1459=)
c.4267A= (p.Lys1423=)
c.4300A= (p.Lys1434=)
c.4372A= (p.Lys1458=)
3g.38556450C>ACA352145228SCN5Ac.4425G>T (p.Gln1475His)
c.4428G>T (p.Gln1476His)
c.4374G>T (p.Gln1458His)
c.4266G>T (p.Gln1422His)
c.4299G>T (p.Gln1433His)
c.4371G>T (p.Gln1457His)
3g.38556450C=CA1358563412SCN5Ac.4425G= (p.Gln1475=)
c.4428G= (p.Gln1476=)
c.4374G= (p.Gln1458=)
c.4266G= (p.Gln1422=)
c.4299G= (p.Gln1433=)
c.4371G= (p.Gln1457=)
3g.38556450C>GCA352145229SCN5Ac.4425G>C (p.Gln1475His)
c.4428G>C (p.Gln1476His)
c.4374G>C (p.Gln1458His)
c.4266G>C (p.Gln1422His)
c.4299G>C (p.Gln1433His)
c.4371G>C (p.Gln1457His)
 gnomAD v4 COSMIC
3g.38556450C>TCA433136011SCN5Ac.4425G>A (p.Gln1475=)
c.4428G>A (p.Gln1476=)
c.4374G>A (p.Gln1458=)
c.4266G>A (p.Gln1422=)
c.4299G>A (p.Gln1433=)
c.4371G>A (p.Gln1457=)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
3g.38556451T>ACA352145230SCN5Ac.4424A>T (p.Gln1475Leu)
c.4427A>T (p.Gln1476Leu)
c.4373A>T (p.Gln1458Leu)
c.4265A>T (p.Gln1422Leu)
c.4298A>T (p.Gln1433Leu)
c.4370A>T (p.Gln1457Leu)
3g.38556451T>CCA352145231SCN5Ac.4424A>G (p.Gln1475Arg)
c.4427A>G (p.Gln1476Arg)
c.4373A>G (p.Gln1458Arg)
c.4265A>G (p.Gln1422Arg)
c.4298A>G (p.Gln1433Arg)
c.4370A>G (p.Gln1457Arg)
3g.38556451T>GCA352145232SCN5Ac.4424A>C (p.Gln1475Pro)
c.4427A>C (p.Gln1476Pro)
c.4373A>C (p.Gln1458Pro)
c.4265A>C (p.Gln1422Pro)
c.4298A>C (p.Gln1433Pro)
c.4370A>C (p.Gln1457Pro)
3g.38556452G>ACA352145233SCN5Ac.4423C>T (p.Gln1475Ter)
c.4426C>T (p.Gln1476Ter)
c.4372C>T (p.Gln1458Ter)
c.4264C>T (p.Gln1422Ter)
c.4297C>T (p.Gln1433Ter)
c.4369C>T (p.Gln1457Ter)
 ClinVar dbSNP gnomAD v4
3g.38556452G>CCA352145234SCN5Ac.4423C>G (p.Gln1475Glu)
c.4426C>G (p.Gln1476Glu)
c.4372C>G (p.Gln1458Glu)
c.4264C>G (p.Gln1422Glu)
c.4297C>G (p.Gln1433Glu)
c.4369C>G (p.Gln1457Glu)
3g.38556452G=CA1358563414SCN5Ac.4423C= (p.Gln1475=)
c.4426C= (p.Gln1476=)
c.4372C= (p.Gln1458=)
c.4264C= (p.Gln1422=)
c.4297C= (p.Gln1433=)
c.4369C= (p.Gln1457=)
3g.38556452G>TCA352145235SCN5Ac.4423C>A (p.Gln1475Lys)
c.4426C>A (p.Gln1476Lys)
c.4372C>A (p.Gln1458Lys)
c.4264C>A (p.Gln1422Lys)
c.4297C>A (p.Gln1433Lys)
c.4369C>A (p.Gln1457Lys)
3g.38556456_38556459delCA2580614211SCN5Ac.4420_4423del (p.Gln1474ArgfsTer5)
c.4423_4426del (p.Gln1475ArgfsTer5)
c.4369_4372del (p.Gln1457ArgfsTer5)
c.4261_4264del (p.Gln1421ArgfsTer5)
c.4294_4297del (p.Gln1432ArgfsTer5)
c.4366_4369del (p.Gln1456ArgfsTer5)
 ClinVar dbSNP
3g.38556453T>ACA352145236SCN5Ac.4422A>T (p.Gln1474His)
c.4425A>T (p.Gln1475His)
c.4371A>T (p.Gln1457His)
c.4263A>T (p.Gln1421His)
c.4296A>T (p.Gln1432His)
c.4368A>T (p.Gln1456His)
3g.38556453T>CCA433136012SCN5Ac.4422A>G (p.Gln1474=)
c.4425A>G (p.Gln1475=)
c.4371A>G (p.Gln1457=)
c.4263A>G (p.Gln1421=)
c.4296A>G (p.Gln1432=)
c.4368A>G (p.Gln1456=)
 ClinVar dbSNP gnomAD v4
3g.38556453T>GCA352145237SCN5Ac.4422A>C (p.Gln1474His)
c.4425A>C (p.Gln1475His)
c.4371A>C (p.Gln1457His)
c.4263A>C (p.Gln1421His)
c.4296A>C (p.Gln1432His)
c.4368A>C (p.Gln1456His)
3g.38556454T>ACA018253SCN5Ac.4421A>T (p.Gln1474Leu)
c.4424A>T (p.Gln1475Leu)
c.4370A>T (p.Gln1457Leu)
c.4262A>T (p.Gln1421Leu)
c.4295A>T (p.Gln1432Leu)
c.4367A>T (p.Gln1456Leu)
 ClinVar dbSNP
3g.38556454T>CCA352145239SCN5Ac.4421A>G (p.Gln1474Arg)
c.4424A>G (p.Gln1475Arg)
c.4370A>G (p.Gln1457Arg)
c.4262A>G (p.Gln1421Arg)
c.4295A>G (p.Gln1432Arg)
c.4367A>G (p.Gln1456Arg)
3g.38556454T>GCA352145238SCN5Ac.4421A>C (p.Gln1474Pro)
c.4424A>C (p.Gln1475Pro)
c.4370A>C (p.Gln1457Pro)
c.4262A>C (p.Gln1421Pro)
c.4295A>C (p.Gln1432Pro)
c.4367A>C (p.Gln1456Pro)
3g.38556454T=CA1358563418SCN5Ac.4421A= (p.Gln1474=)
c.4424A= (p.Gln1475=)
c.4370A= (p.Gln1457=)
c.4262A= (p.Gln1421=)
c.4295A= (p.Gln1432=)
c.4367A= (p.Gln1456=)
3g.38556454_38556455delinsTGCA1358563416SCN5Ac.4420_4421delinsCA (p.Gln1474=)
c.4423_4424delinsCA (p.Gln1475=)
c.4369_4370delinsCA (p.Gln1457=)
c.4261_4262delinsCA (p.Gln1421=)
c.4294_4295delinsCA (p.Gln1432=)
c.4366_4367delinsCA (p.Gln1456=)
3g.38556455G>ACA352145240SCN5Ac.4420C>T (p.Gln1474Ter)
c.4423C>T (p.Gln1475Ter)
c.4369C>T (p.Gln1457Ter)
c.4261C>T (p.Gln1421Ter)
c.4294C>T (p.Gln1432Ter)
c.4366C>T (p.Gln1456Ter)
3g.38556455G>CCA352145241SCN5Ac.4420C>G (p.Gln1474Glu)
c.4423C>G (p.Gln1475Glu)
c.4369C>G (p.Gln1457Glu)
c.4261C>G (p.Gln1421Glu)
c.4294C>G (p.Gln1432Glu)
c.4366C>G (p.Gln1456Glu)
 ClinVar dbSNP
3g.38556455G>TCA352145242SCN5Ac.4420C>A (p.Gln1474Lys)
c.4423C>A (p.Gln1475Lys)
c.4369C>A (p.Gln1457Lys)
c.4261C>A (p.Gln1421Lys)
c.4294C>A (p.Gln1432Lys)
c.4366C>A (p.Gln1456Lys)
3g.38556456delCA10587575SCN5Ac.4420del (p.Gln1474AsnfsTer6)
c.4423del (p.Gln1475AsnfsTer6)
c.4369del (p.Gln1457AsnfsTer6)
c.4261del (p.Gln1421AsnfsTer6)
c.4294del (p.Gln1432AsnfsTer6)
c.4366del (p.Gln1456AsnfsTer6)
 ClinVar dbSNP gnomAD v4
3g.38556456G>ACA72943309SCN5Ac.4419C>T (p.Asn1473=)
c.4422C>T (p.Asn1474=)
c.4368C>T (p.Asn1456=)
c.4260C>T (p.Asn1420=)
c.4293C>T (p.Asn1431=)
c.4365C>T (p.Asn1455=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38556456G>CCA352145243SCN5Ac.4419C>G (p.Asn1473Lys)
c.4422C>G (p.Asn1474Lys)
c.4368C>G (p.Asn1456Lys)
c.4260C>G (p.Asn1420Lys)
c.4293C>G (p.Asn1431Lys)
c.4365C>G (p.Asn1455Lys)
 dbSNP gnomAD v4
3g.38556456G=CA1358563421SCN5Ac.4419C= (p.Asn1473=)
c.4422C= (p.Asn1474=)
c.4368C= (p.Asn1456=)
c.4260C= (p.Asn1420=)
c.4293C= (p.Asn1431=)
c.4365C= (p.Asn1455=)
3g.38556456G>TCA352145244SCN5Ac.4419C>A (p.Asn1473Lys)
c.4422C>A (p.Asn1474Lys)
c.4368C>A (p.Asn1456Lys)
c.4260C>A (p.Asn1420Lys)
c.4293C>A (p.Asn1431Lys)
c.4365C>A (p.Asn1455Lys)
3g.38556457T>ACA352145245SCN5Ac.4418A>T (p.Asn1473Ile)
c.4421A>T (p.Asn1474Ile)
c.4367A>T (p.Asn1456Ile)
c.4259A>T (p.Asn1420Ile)
c.4292A>T (p.Asn1431Ile)
c.4364A>T (p.Asn1455Ile)
3g.38556457T>CCA352145247SCN5Ac.4418A>G (p.Asn1473Ser)
c.4421A>G (p.Asn1474Ser)
c.4367A>G (p.Asn1456Ser)
c.4259A>G (p.Asn1420Ser)
c.4292A>G (p.Asn1431Ser)
c.4364A>G (p.Asn1455Ser)
3g.38556457T>GCA352145246SCN5Ac.4418A>C (p.Asn1473Thr)
c.4421A>C (p.Asn1474Thr)
c.4367A>C (p.Asn1456Thr)
c.4259A>C (p.Asn1420Thr)
c.4292A>C (p.Asn1431Thr)
c.4364A>C (p.Asn1455Thr)
3g.38556458T>ACA352145248SCN5Ac.4417A>T (p.Asn1473Tyr)
c.4420A>T (p.Asn1474Tyr)
c.4366A>T (p.Asn1456Tyr)
c.4258A>T (p.Asn1420Tyr)
c.4291A>T (p.Asn1431Tyr)
c.4363A>T (p.Asn1455Tyr)
3g.38556458T>CCA352145249SCN5Ac.4417A>G (p.Asn1473Asp)
c.4420A>G (p.Asn1474Asp)
c.4366A>G (p.Asn1456Asp)
c.4258A>G (p.Asn1420Asp)
c.4291A>G (p.Asn1431Asp)
c.4363A>G (p.Asn1455Asp)
3g.38556458T>GCA352145250SCN5Ac.4417A>C (p.Asn1473His)
c.4420A>C (p.Asn1474His)
c.4366A>C (p.Asn1456His)
c.4258A>C (p.Asn1420His)
c.4291A>C (p.Asn1431His)
c.4363A>C (p.Asn1455His)
3g.38556459G>ACA433136013SCN5Ac.4416C>T (p.Phe1472=)
c.4419C>T (p.Phe1473=)
c.4365C>T (p.Phe1455=)
c.4257C>T (p.Phe1419=)
c.4290C>T (p.Phe1430=)
c.4362C>T (p.Phe1454=)
3g.38556459G>CCA352145251SCN5Ac.4416C>G (p.Phe1472Leu)
c.4419C>G (p.Phe1473Leu)
c.4365C>G (p.Phe1455Leu)
c.4257C>G (p.Phe1419Leu)
c.4290C>G (p.Phe1430Leu)
c.4362C>G (p.Phe1454Leu)
 ClinVar
3g.38556459G>TCA352145252SCN5Ac.4416C>A (p.Phe1472Leu)
c.4419C>A (p.Phe1473Leu)
c.4365C>A (p.Phe1455Leu)
c.4257C>A (p.Phe1419Leu)
c.4290C>A (p.Phe1430Leu)
c.4362C>A (p.Phe1454Leu)
3g.38556460A=CA1358563424SCN5Ac.4415T= (p.Phe1472=)
c.4418T= (p.Phe1473=)
c.4364T= (p.Phe1455=)
c.4256T= (p.Phe1419=)
c.4289T= (p.Phe1430=)
c.4361T= (p.Phe1454=)
3g.38556460A>CCA018247SCN5Ac.4415T>G (p.Phe1472Cys)
c.4418T>G (p.Phe1473Cys)
c.4364T>G (p.Phe1455Cys)
c.4256T>G (p.Phe1419Cys)
c.4289T>G (p.Phe1430Cys)
c.4361T>G (p.Phe1454Cys)
 ClinVar dbSNP
3g.38556460A>GCA018241SCN5Ac.4415T>C (p.Phe1472Ser)
c.4418T>C (p.Phe1473Ser)
c.4364T>C (p.Phe1455Ser)
c.4256T>C (p.Phe1419Ser)
c.4289T>C (p.Phe1430Ser)
c.4361T>C (p.Phe1454Ser)
 ClinVar dbSNP
3g.38556460A>TCA352145253SCN5Ac.4415T>A (p.Phe1472Tyr)
c.4418T>A (p.Phe1473Tyr)
c.4364T>A (p.Phe1455Tyr)
c.4256T>A (p.Phe1419Tyr)
c.4289T>A (p.Phe1430Tyr)
c.4361T>A (p.Phe1454Tyr)
3g.38556461A=CA1358563426SCN5Ac.4414T= (p.Phe1472=)
c.4417T= (p.Phe1473=)
c.4363T= (p.Phe1455=)
c.4255T= (p.Phe1419=)
c.4288T= (p.Phe1430=)
c.4360T= (p.Phe1454=)
3g.38556461A>CCA352145254SCN5Ac.4414T>G (p.Phe1472Val)
c.4417T>G (p.Phe1473Val)
c.4363T>G (p.Phe1455Val)
c.4255T>G (p.Phe1419Val)
c.4288T>G (p.Phe1430Val)
c.4360T>G (p.Phe1454Val)
3g.38556461A>GCA16604466SCN5Ac.4414T>C (p.Phe1472Leu)
c.4417T>C (p.Phe1473Leu)
c.4363T>C (p.Phe1455Leu)
c.4255T>C (p.Phe1419Leu)
c.4288T>C (p.Phe1430Leu)
c.4360T>C (p.Phe1454Leu)
 ClinVar dbSNP
3g.38556461A>TCA352145255SCN5Ac.4414T>A (p.Phe1472Ile)
c.4417T>A (p.Phe1473Ile)
c.4363T>A (p.Phe1455Ile)
c.4255T>A (p.Phe1419Ile)
c.4288T>A (p.Phe1430Ile)
c.4360T>A (p.Phe1454Ile)
 ClinVar
3g.38556462G>ACA433136015SCN5Ac.4413C>T (p.Asn1471=)
c.4416C>T (p.Asn1472=)
c.4362C>T (p.Asn1454=)
c.4254C>T (p.Asn1418=)
c.4287C>T (p.Asn1429=)
c.4359C>T (p.Asn1453=)
 gnomAD v4
3g.38556462G>CCA352145256SCN5Ac.4413C>G (p.Asn1471Lys)
c.4416C>G (p.Asn1472Lys)
c.4362C>G (p.Asn1454Lys)
c.4254C>G (p.Asn1418Lys)
c.4287C>G (p.Asn1429Lys)
c.4359C>G (p.Asn1453Lys)
3g.38556462G>TCA352145257SCN5Ac.4413C>A (p.Asn1471Lys)
c.4416C>A (p.Asn1472Lys)
c.4362C>A (p.Asn1454Lys)
c.4254C>A (p.Asn1418Lys)
c.4287C>A (p.Asn1429Lys)
c.4359C>A (p.Asn1453Lys)
3g.38556464_38556466delCA2586965720SCN5Ac.4411_4413del (p.Asn1471del)
c.4414_4416del (p.Asn1472del)
c.4360_4362del (p.Asn1454del)
c.4252_4254del (p.Asn1418del)
c.4285_4287del (p.Asn1429del)
c.4357_4359del (p.Asn1453del)
3g.38556463T>ACA352145258SCN5Ac.4412A>T (p.Asn1471Ile)
c.4415A>T (p.Asn1472Ile)
c.4361A>T (p.Asn1454Ile)
c.4253A>T (p.Asn1418Ile)
c.4286A>T (p.Asn1429Ile)
c.4358A>T (p.Asn1453Ile)
 ClinVar dbSNP
3g.38556463T>CCA018236SCN5Ac.4412A>G (p.Asn1471Ser)
c.4415A>G (p.Asn1472Ser)
c.4361A>G (p.Asn1454Ser)
c.4253A>G (p.Asn1418Ser)
c.4286A>G (p.Asn1429Ser)
c.4358A>G (p.Asn1453Ser)
 ClinVar dbSNP
3g.38556463T>GCA352145259SCN5Ac.4412A>C (p.Asn1471Thr)
c.4415A>C (p.Asn1472Thr)
c.4361A>C (p.Asn1454Thr)
c.4253A>C (p.Asn1418Thr)
c.4286A>C (p.Asn1429Thr)
c.4358A>C (p.Asn1453Thr)
3g.38556463T=CA1358563430SCN5Ac.4412A= (p.Asn1471=)
c.4415A= (p.Asn1472=)
c.4361A= (p.Asn1454=)
c.4253A= (p.Asn1418=)
c.4286A= (p.Asn1429=)
c.4358A= (p.Asn1453=)
3g.38556464T>ACA352145260SCN5Ac.4411A>T (p.Asn1471Tyr)
c.4414A>T (p.Asn1472Tyr)
c.4360A>T (p.Asn1454Tyr)
c.4252A>T (p.Asn1418Tyr)
c.4285A>T (p.Asn1429Tyr)
c.4357A>T (p.Asn1453Tyr)
3g.38556464T>CCA352145261SCN5Ac.4411A>G (p.Asn1471Asp)
c.4414A>G (p.Asn1472Asp)
c.4360A>G (p.Asn1454Asp)
c.4252A>G (p.Asn1418Asp)
c.4285A>G (p.Asn1429Asp)
c.4357A>G (p.Asn1453Asp)
3g.38556464T>GCA352145262SCN5Ac.4411A>C (p.Asn1471His)
c.4414A>C (p.Asn1472His)
c.4360A>C (p.Asn1454His)
c.4252A>C (p.Asn1418His)
c.4285A>C (p.Asn1429His)
c.4357A>C (p.Asn1453His)
3g.38556465G>ACA433136019SCN5Ac.4410C>T (p.Asp1470=)
c.4413C>T (p.Asp1471=)
c.4359C>T (p.Asp1453=)
c.4251C>T (p.Asp1417=)
c.4284C>T (p.Asp1428=)
c.4356C>T (p.Asp1452=)
 ClinVar
3g.38556465G>CCA352145263SCN5Ac.4410C>G (p.Asp1470Glu)
c.4413C>G (p.Asp1471Glu)
c.4359C>G (p.Asp1453Glu)
c.4251C>G (p.Asp1417Glu)
c.4284C>G (p.Asp1428Glu)
c.4356C>G (p.Asp1452Glu)
3g.38556465G>TCA352145264SCN5Ac.4410C>A (p.Asp1470Glu)
c.4413C>A (p.Asp1471Glu)
c.4359C>A (p.Asp1453Glu)
c.4251C>A (p.Asp1417Glu)
c.4284C>A (p.Asp1428Glu)
c.4356C>A (p.Asp1452Glu)
 gnomAD v4
3g.38556466T>ACA352145266SCN5Ac.4409A>T (p.Asp1470Val)
c.4412A>T (p.Asp1471Val)
c.4358A>T (p.Asp1453Val)
c.4250A>T (p.Asp1417Val)
c.4283A>T (p.Asp1428Val)
c.4355A>T (p.Asp1452Val)
3g.38556466T>CCA72943317SCN5Ac.4409A>G (p.Asp1470Gly)
c.4412A>G (p.Asp1471Gly)
c.4358A>G (p.Asp1453Gly)
c.4250A>G (p.Asp1417Gly)
c.4283A>G (p.Asp1428Gly)
c.4355A>G (p.Asp1452Gly)
 dbSNP
3g.38556466T>GCA352145265SCN5Ac.4409A>C (p.Asp1470Ala)
c.4412A>C (p.Asp1471Ala)
c.4358A>C (p.Asp1453Ala)
c.4250A>C (p.Asp1417Ala)
c.4283A>C (p.Asp1428Ala)
c.4355A>C (p.Asp1452Ala)
3g.38556466T=CA1358563432SCN5Ac.4409A= (p.Asp1470=)
c.4412A= (p.Asp1471=)
c.4358A= (p.Asp1453=)
c.4250A= (p.Asp1417=)
c.4283A= (p.Asp1428=)
c.4355A= (p.Asp1452=)
3g.38556467C>ACA352145267SCN5Ac.4408G>T (p.Asp1470Tyr)
c.4411G>T (p.Asp1471Tyr)
c.4357G>T (p.Asp1453Tyr)
c.4249G>T (p.Asp1417Tyr)
c.4282G>T (p.Asp1428Tyr)
c.4354G>T (p.Asp1452Tyr)
 gnomAD v4
3g.38556467C>GCA352145268SCN5Ac.4408G>C (p.Asp1470His)
c.4411G>C (p.Asp1471His)
c.4357G>C (p.Asp1453His)
c.4249G>C (p.Asp1417His)
c.4282G>C (p.Asp1428His)
c.4354G>C (p.Asp1452His)
3g.38556467C>TCA352145269SCN5Ac.4408G>A (p.Asp1470Asn)
c.4411G>A (p.Asp1471Asn)
c.4357G>A (p.Asp1453Asn)
c.4249G>A (p.Asp1417Asn)
c.4282G>A (p.Asp1428Asn)
c.4354G>A (p.Asp1452Asn)
3g.38556468A=CA1358563435SCN5Ac.4407T= (p.Ile1469=)
c.4410T= (p.Ile1470=)
c.4356T= (p.Ile1452=)
c.4248T= (p.Ile1416=)
c.4281T= (p.Ile1427=)
c.4353T= (p.Ile1451=)
3g.38556468A>CCA352145270SCN5Ac.4407T>G (p.Ile1469Met)
c.4410T>G (p.Ile1470Met)
c.4356T>G (p.Ile1452Met)
c.4248T>G (p.Ile1416Met)
c.4281T>G (p.Ile1427Met)
c.4353T>G (p.Ile1451Met)
3g.38556468A>GCA433136020SCN5Ac.4407T>C (p.Ile1469=)
c.4410T>C (p.Ile1470=)
c.4356T>C (p.Ile1452=)
c.4248T>C (p.Ile1416=)
c.4281T>C (p.Ile1427=)
c.4353T>C (p.Ile1451=)
3g.38556468A>TCA063166SCN5Ac.4407T>A (p.Ile1469=)
c.4410T>A (p.Ile1470=)
c.4356T>A (p.Ile1452=)
c.4248T>A (p.Ile1416=)
c.4281T>A (p.Ile1427=)
c.4353T>A (p.Ile1451=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556469A=CA1358563436SCN5Ac.4406T= (p.Ile1469=)
c.4409T= (p.Ile1470=)
c.4355T= (p.Ile1452=)
c.4247T= (p.Ile1416=)
c.4280T= (p.Ile1427=)
c.4352T= (p.Ile1451=)
3g.38556469A>CCA352145271SCN5Ac.4406T>G (p.Ile1469Ser)
c.4409T>G (p.Ile1470Ser)
c.4355T>G (p.Ile1452Ser)
c.4247T>G (p.Ile1416Ser)
c.4280T>G (p.Ile1427Ser)
c.4352T>G (p.Ile1451Ser)
3g.38556469A>GCA018232SCN5Ac.4406T>C (p.Ile1469Thr)
c.4409T>C (p.Ile1470Thr)
c.4355T>C (p.Ile1452Thr)
c.4247T>C (p.Ile1416Thr)
c.4280T>C (p.Ile1427Thr)
c.4352T>C (p.Ile1451Thr)
 ClinVar dbSNP gnomAD v4
3g.38556469A>TCA352145272SCN5Ac.4406T>A (p.Ile1469Asn)
c.4409T>A (p.Ile1470Asn)
c.4355T>A (p.Ile1452Asn)
c.4247T>A (p.Ile1416Asn)
c.4280T>A (p.Ile1427Asn)
c.4352T>A (p.Ile1451Asn)
3g.38556470T>ACA352145273SCN5Ac.4405A>T (p.Ile1469Phe)
c.4408A>T (p.Ile1470Phe)
c.4354A>T (p.Ile1452Phe)
c.4246A>T (p.Ile1416Phe)
c.4279A>T (p.Ile1427Phe)
c.4351A>T (p.Ile1451Phe)
3g.38556470T>CCA352145274SCN5Ac.4405A>G (p.Ile1469Val)
c.4408A>G (p.Ile1470Val)
c.4354A>G (p.Ile1452Val)
c.4246A>G (p.Ile1416Val)
c.4279A>G (p.Ile1427Val)
c.4351A>G (p.Ile1451Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38556470T>GCA352145275SCN5Ac.4405A>C (p.Ile1469Leu)
c.4408A>C (p.Ile1470Leu)
c.4354A>C (p.Ile1452Leu)
c.4246A>C (p.Ile1416Leu)
c.4279A>C (p.Ile1427Leu)
c.4351A>C (p.Ile1451Leu)
3g.38556470T=CA1358563438SCN5Ac.4405A= (p.Ile1469=)
c.4408A= (p.Ile1470=)
c.4354A= (p.Ile1452=)
c.4246A= (p.Ile1416=)
c.4279A= (p.Ile1427=)
c.4351A= (p.Ile1451=)
3g.38556471G>ACA433136022SCN5Ac.4404C>T (p.Ile1468=)
c.4407C>T (p.Ile1469=)
c.4353C>T (p.Ile1451=)
c.4245C>T (p.Ile1415=)
c.4278C>T (p.Ile1426=)
c.4350C>T (p.Ile1450=)
 COSMIC COSMIC COSMIC
3g.38556471G>CCA352145276SCN5Ac.4404C>G (p.Ile1468Met)
c.4407C>G (p.Ile1469Met)
c.4353C>G (p.Ile1451Met)
c.4245C>G (p.Ile1415Met)
c.4278C>G (p.Ile1426Met)
c.4350C>G (p.Ile1450Met)
3g.38556471G=CA1358563440SCN5Ac.4404C= (p.Ile1468=)
c.4407C= (p.Ile1469=)
c.4353C= (p.Ile1451=)
c.4245C= (p.Ile1415=)
c.4278C= (p.Ile1426=)
c.4350C= (p.Ile1450=)
3g.38556471G>TCA433136023SCN5Ac.4404C>A (p.Ile1468=)
c.4407C>A (p.Ile1469=)
c.4353C>A (p.Ile1451=)
c.4245C>A (p.Ile1415=)
c.4278C>A (p.Ile1426=)
c.4350C>A (p.Ile1450=)
 dbSNP gnomAD v2 gnomAD v4
3g.38556472A>CCA352145278SCN5Ac.4403T>G (p.Ile1468Ser)
c.4406T>G (p.Ile1469Ser)
c.4352T>G (p.Ile1451Ser)
c.4244T>G (p.Ile1415Ser)
c.4277T>G (p.Ile1426Ser)
c.4349T>G (p.Ile1450Ser)
3g.38556472A>GCA352145279SCN5Ac.4403T>C (p.Ile1468Thr)
c.4406T>C (p.Ile1469Thr)
c.4352T>C (p.Ile1451Thr)
c.4244T>C (p.Ile1415Thr)
c.4277T>C (p.Ile1426Thr)
c.4349T>C (p.Ile1450Thr)
 ClinVar dbSNP gnomAD v4
3g.38556472A>TCA352145277SCN5Ac.4403T>A (p.Ile1468Asn)
c.4406T>A (p.Ile1469Asn)
c.4352T>A (p.Ile1451Asn)
c.4244T>A (p.Ile1415Asn)
c.4277T>A (p.Ile1426Asn)
c.4349T>A (p.Ile1450Asn)
3g.38556473T>ACA018226SCN5Ac.4402A>T (p.Ile1468Phe)
c.4405A>T (p.Ile1469Phe)
c.4351A>T (p.Ile1451Phe)
c.4243A>T (p.Ile1415Phe)
c.4276A>T (p.Ile1426Phe)
c.4348A>T (p.Ile1450Phe)
 ClinVar dbSNP
3g.38556473T>CCA352145280SCN5Ac.4402A>G (p.Ile1468Val)
c.4405A>G (p.Ile1469Val)
c.4351A>G (p.Ile1451Val)
c.4243A>G (p.Ile1415Val)
c.4276A>G (p.Ile1426Val)
c.4348A>G (p.Ile1450Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38556473T>GCA352145281SCN5Ac.4402A>C (p.Ile1468Leu)
c.4405A>C (p.Ile1469Leu)
c.4351A>C (p.Ile1451Leu)
c.4243A>C (p.Ile1415Leu)
c.4276A>C (p.Ile1426Leu)
c.4348A>C (p.Ile1450Leu)
3g.38556473T=CA1358563442SCN5Ac.4402A= (p.Ile1468=)
c.4405A= (p.Ile1469=)
c.4351A= (p.Ile1451=)
c.4243A= (p.Ile1415=)
c.4276A= (p.Ile1426=)
c.4348A= (p.Ile1450=)
3g.38556473_38556476delCA2586965722SCN5Ac.4399_4402del (p.Val1467SerfsTer12)
c.4402_4405del (p.Val1468SerfsTer12)
c.4348_4351del (p.Val1450SerfsTer12)
c.4240_4243del (p.Val1414SerfsTer12)
c.4273_4276del (p.Val1425SerfsTer12)
c.4345_4348del (p.Val1449SerfsTer12)
3g.38556474G>ACA063160SCN5Ac.4401C>T (p.Val1467=)
c.4404C>T (p.Val1468=)
c.4350C>T (p.Val1450=)
c.4242C>T (p.Val1414=)
c.4275C>T (p.Val1425=)
c.4347C>T (p.Val1449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556474G>CCA433136025SCN5Ac.4401C>G (p.Val1467=)
c.4404C>G (p.Val1468=)
c.4350C>G (p.Val1450=)
c.4242C>G (p.Val1414=)
c.4275C>G (p.Val1425=)
c.4347C>G (p.Val1449=)
3g.38556474G=CA1358563444SCN5Ac.4401C= (p.Val1467=)
c.4404C= (p.Val1468=)
c.4350C= (p.Val1450=)
c.4242C= (p.Val1414=)
c.4275C= (p.Val1425=)
c.4347C= (p.Val1449=)
3g.38556474G>TCA433136026SCN5Ac.4401C>A (p.Val1467=)
c.4404C>A (p.Val1468=)
c.4350C>A (p.Val1450=)
c.4242C>A (p.Val1414=)
c.4275C>A (p.Val1425=)
c.4347C>A (p.Val1449=)
 gnomAD v4
3g.38556475delCA2665110974SCN5Ac.4400del (p.Val1467AlafsTer13)
c.4403del (p.Val1468AlafsTer13)
c.4349del (p.Val1450AlafsTer13)
c.4241del (p.Val1414AlafsTer13)
c.4274del (p.Val1425AlafsTer13)
c.4346del (p.Val1449AlafsTer13)
 gnomAD v4
3g.38556475A=CA1358563447SCN5Ac.4400T= (p.Val1467=)
c.4403T= (p.Val1468=)
c.4349T= (p.Val1450=)
c.4241T= (p.Val1414=)
c.4274T= (p.Val1425=)
c.4346T= (p.Val1449=)
3g.38556475A>CCA352145282SCN5Ac.4400T>G (p.Val1467Gly)
c.4403T>G (p.Val1468Gly)
c.4349T>G (p.Val1450Gly)
c.4241T>G (p.Val1414Gly)
c.4274T>G (p.Val1425Gly)
c.4346T>G (p.Val1449Gly)
3g.38556475A>GCA018220SCN5Ac.4400T>C (p.Val1467Ala)
c.4403T>C (p.Val1468Ala)
c.4349T>C (p.Val1450Ala)
c.4241T>C (p.Val1414Ala)
c.4274T>C (p.Val1425Ala)
c.4346T>C (p.Val1449Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38556475A>TCA352145283SCN5Ac.4400T>A (p.Val1467Asp)
c.4403T>A (p.Val1468Asp)
c.4349T>A (p.Val1450Asp)
c.4241T>A (p.Val1414Asp)
c.4274T>A (p.Val1425Asp)
c.4346T>A (p.Val1449Asp)
3g.38556476C>ACA018214SCN5Ac.4399G>T (p.Val1467Phe)
c.4402G>T (p.Val1468Phe)
c.4348G>T (p.Val1450Phe)
c.4240G>T (p.Val1414Phe)
c.4273G>T (p.Val1425Phe)
c.4345G>T (p.Val1449Phe)
 ClinVar dbSNP gnomAD v4
3g.38556476C=CA1358563450SCN5Ac.4399G= (p.Val1467=)
c.4402G= (p.Val1468=)
c.4348G= (p.Val1450=)
c.4240G= (p.Val1414=)
c.4273G= (p.Val1425=)
c.4345G= (p.Val1449=)
3g.38556476C>GCA352145284SCN5Ac.4399G>C (p.Val1467Leu)
c.4402G>C (p.Val1468Leu)
c.4348G>C (p.Val1450Leu)
c.4240G>C (p.Val1414Leu)
c.4273G>C (p.Val1425Leu)
c.4345G>C (p.Val1449Leu)
3g.38556476C>TCA352145285SCN5Ac.4399G>A (p.Val1467Ile)
c.4402G>A (p.Val1468Ile)
c.4348G>A (p.Val1450Ile)
c.4240G>A (p.Val1414Ile)
c.4273G>A (p.Val1425Ile)
c.4345G>A (p.Val1449Ile)
3g.38556477A>CCA433136028SCN5Ac.4398T>G (p.Gly1466=)
c.4401T>G (p.Gly1467=)
c.4347T>G (p.Gly1449=)
c.4239T>G (p.Gly1413=)
c.4272T>G (p.Gly1424=)
c.4344T>G (p.Gly1448=)
 ClinVar
3g.38556477A>GCA433136029SCN5Ac.4398T>C (p.Gly1466=)
c.4401T>C (p.Gly1467=)
c.4347T>C (p.Gly1449=)
c.4239T>C (p.Gly1413=)
c.4272T>C (p.Gly1424=)
c.4344T>C (p.Gly1448=)
 ClinVar
3g.38556477A>TCA433136030SCN5Ac.4398T>A (p.Gly1466=)
c.4401T>A (p.Gly1467=)
c.4347T>A (p.Gly1449=)
c.4239T>A (p.Gly1413=)
c.4272T>A (p.Gly1424=)
c.4344T>A (p.Gly1448=)
3g.38556478C>ACA352145286SCN5Ac.4397G>T (p.Gly1466Val)
c.4400G>T (p.Gly1467Val)
c.4346G>T (p.Gly1449Val)
c.4238G>T (p.Gly1413Val)
c.4271G>T (p.Gly1424Val)
c.4343G>T (p.Gly1448Val)
3g.38556478C>GCA352145287SCN5Ac.4397G>C (p.Gly1466Ala)
c.4400G>C (p.Gly1467Ala)
c.4346G>C (p.Gly1449Ala)
c.4238G>C (p.Gly1413Ala)
c.4271G>C (p.Gly1424Ala)
c.4343G>C (p.Gly1448Ala)
3g.38556478C>TCA352145288SCN5Ac.4397G>A (p.Gly1466Asp)
c.4400G>A (p.Gly1467Asp)
c.4346G>A (p.Gly1449Asp)
c.4238G>A (p.Gly1413Asp)
c.4271G>A (p.Gly1424Asp)
c.4343G>A (p.Gly1448Asp)
3g.38556479C>ACA352145291SCN5Ac.4396G>T (p.Gly1466Cys)
c.4399G>T (p.Gly1467Cys)
c.4345G>T (p.Gly1449Cys)
c.4237G>T (p.Gly1413Cys)
c.4270G>T (p.Gly1424Cys)
c.4342G>T (p.Gly1448Cys)
3g.38556479C>GCA352145290SCN5Ac.4396G>C (p.Gly1466Arg)
c.4399G>C (p.Gly1467Arg)
c.4345G>C (p.Gly1449Arg)
c.4237G>C (p.Gly1413Arg)
c.4270G>C (p.Gly1424Arg)
c.4342G>C (p.Gly1448Arg)
3g.38556479C>TCA352145289SCN5Ac.4396G>A (p.Gly1466Ser)
c.4399G>A (p.Gly1467Ser)
c.4345G>A (p.Gly1449Ser)
c.4237G>A (p.Gly1413Ser)
c.4270G>A (p.Gly1424Ser)
c.4342G>A (p.Gly1448Ser)
 gnomAD v4
3g.38556480A>CCA352145292SCN5Ac.4395T>G (p.Ile1465Met)
c.4398T>G (p.Ile1466Met)
c.4344T>G (p.Ile1448Met)
c.4236T>G (p.Ile1412Met)
c.4269T>G (p.Ile1423Met)
c.4341T>G (p.Ile1447Met)
3g.38556480A>GCA433136034SCN5Ac.4395T>C (p.Ile1465=)
c.4398T>C (p.Ile1466=)
c.4344T>C (p.Ile1448=)
c.4236T>C (p.Ile1412=)
c.4269T>C (p.Ile1423=)
c.4341T>C (p.Ile1447=)
3g.38556480A>TCA433136035SCN5Ac.4395T>A (p.Ile1465=)
c.4398T>A (p.Ile1466=)
c.4344T>A (p.Ile1448=)
c.4236T>A (p.Ile1412=)
c.4269T>A (p.Ile1423=)
c.4341T>A (p.Ile1447=)
3g.38556481A=CA1358563452SCN5Ac.4394T= (p.Ile1465=)
c.4397T= (p.Ile1466=)
c.4343T= (p.Ile1448=)
c.4235T= (p.Ile1412=)
c.4268T= (p.Ile1423=)
c.4340T= (p.Ile1447=)
3g.38556481A>CCA352145293SCN5Ac.4394T>G (p.Ile1465Ser)
c.4397T>G (p.Ile1466Ser)
c.4343T>G (p.Ile1448Ser)
c.4235T>G (p.Ile1412Ser)
c.4268T>G (p.Ile1423Ser)
c.4340T>G (p.Ile1447Ser)
3g.38556481A>GCA018207SCN5Ac.4394T>C (p.Ile1465Thr)
c.4397T>C (p.Ile1466Thr)
c.4343T>C (p.Ile1448Thr)
c.4235T>C (p.Ile1412Thr)
c.4268T>C (p.Ile1423Thr)
c.4340T>C (p.Ile1447Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556481A>TCA352145294SCN5Ac.4394T>A (p.Ile1465Asn)
c.4397T>A (p.Ile1466Asn)
c.4343T>A (p.Ile1448Asn)
c.4235T>A (p.Ile1412Asn)
c.4268T>A (p.Ile1423Asn)
c.4340T>A (p.Ile1447Asn)
3g.38556481_38556482delinsATCA1358563453SCN5Ac.4393_4394delinsAT (p.Ile1465=)
c.4396_4397delinsAT (p.Ile1466=)
c.4342_4343delinsAT (p.Ile1448=)
c.4234_4235delinsAT (p.Ile1412=)
c.4267_4268delinsAT (p.Ile1423=)
c.4339_4340delinsAT (p.Ile1447=)
3g.38556482delCA913188102SCN5Ac.4393del (p.Ile1465LeufsTer15)
c.4396del (p.Ile1466LeufsTer15)
c.4342del (p.Ile1448LeufsTer15)
c.4234del (p.Ile1412LeufsTer15)
c.4267del (p.Ile1423LeufsTer15)
c.4339del (p.Ile1447LeufsTer15)
 dbSNP gnomAD v3 gnomAD v4
3g.38556482T>ACA352145295SCN5Ac.4393A>T (p.Ile1465Phe)
c.4396A>T (p.Ile1466Phe)
c.4342A>T (p.Ile1448Phe)
c.4234A>T (p.Ile1412Phe)
c.4267A>T (p.Ile1423Phe)
c.4339A>T (p.Ile1447Phe)
 COSMIC COSMIC COSMIC
3g.38556482T>CCA018201SCN5Ac.4393A>G (p.Ile1465Val)
c.4396A>G (p.Ile1466Val)
c.4342A>G (p.Ile1448Val)
c.4234A>G (p.Ile1412Val)
c.4267A>G (p.Ile1423Val)
c.4339A>G (p.Ile1447Val)
 ClinVar dbSNP
3g.38556482T>GCA352145296SCN5Ac.4393A>C (p.Ile1465Leu)
c.4396A>C (p.Ile1466Leu)
c.4342A>C (p.Ile1448Leu)
c.4234A>C (p.Ile1412Leu)
c.4267A>C (p.Ile1423Leu)
c.4339A>C (p.Ile1447Leu)
3g.38556482T=CA1358563455SCN5Ac.4393A= (p.Ile1465=)
c.4396A= (p.Ile1466=)
c.4342A= (p.Ile1448=)
c.4234A= (p.Ile1412=)
c.4267A= (p.Ile1423=)
c.4339A= (p.Ile1447=)
3g.38556483_38556490delCA2586965724SCN5Ac.4386_4393del (p.Leu1463TrpfsTer5)
c.4389_4396del (p.Leu1464TrpfsTer5)
c.4335_4342del (p.Leu1446TrpfsTer5)
c.4227_4234del (p.Leu1410TrpfsTer5)
c.4260_4267del (p.Leu1421TrpfsTer5)
c.4332_4339del (p.Leu1445TrpfsTer5)
3g.38556483A>CCA352145297SCN5Ac.4392T>G (p.Phe1464Leu)
c.4395T>G (p.Phe1465Leu)
c.4341T>G (p.Phe1447Leu)
c.4233T>G (p.Phe1411Leu)
c.4266T>G (p.Phe1422Leu)
c.4338T>G (p.Phe1446Leu)
3g.38556483A>GCA433136043SCN5Ac.4392T>C (p.Phe1464=)
c.4395T>C (p.Phe1465=)
c.4341T>C (p.Phe1447=)
c.4233T>C (p.Phe1411=)
c.4266T>C (p.Phe1422=)
c.4338T>C (p.Phe1446=)
3g.38556483A>TCA352145298SCN5Ac.4392T>A (p.Phe1464Leu)
c.4395T>A (p.Phe1465Leu)
c.4341T>A (p.Phe1447Leu)
c.4233T>A (p.Phe1411Leu)
c.4266T>A (p.Phe1422Leu)
c.4338T>A (p.Phe1446Leu)
3g.38556484A>CCA352145299SCN5Ac.4391T>G (p.Phe1464Cys)
c.4394T>G (p.Phe1465Cys)
c.4340T>G (p.Phe1447Cys)
c.4232T>G (p.Phe1411Cys)
c.4265T>G (p.Phe1422Cys)
c.4337T>G (p.Phe1446Cys)
3g.38556484A>GCA352145300SCN5Ac.4391T>C (p.Phe1464Ser)
c.4394T>C (p.Phe1465Ser)
c.4340T>C (p.Phe1447Ser)
c.4232T>C (p.Phe1411Ser)
c.4265T>C (p.Phe1422Ser)
c.4337T>C (p.Phe1446Ser)
3g.38556484A>TCA352145301SCN5Ac.4391T>A (p.Phe1464Tyr)
c.4394T>A (p.Phe1465Tyr)
c.4340T>A (p.Phe1447Tyr)
c.4232T>A (p.Phe1411Tyr)
c.4265T>A (p.Phe1422Tyr)
c.4337T>A (p.Phe1446Tyr)
3g.38556485A=CA1358563457SCN5Ac.4390T= (p.Phe1464=)
c.4393T= (p.Phe1465=)
c.4339T= (p.Phe1447=)
c.4231T= (p.Phe1411=)
c.4264T= (p.Phe1422=)
c.4336T= (p.Phe1446=)
3g.38556485A>CCA352145302SCN5Ac.4390T>G (p.Phe1464Val)
c.4393T>G (p.Phe1465Val)
c.4339T>G (p.Phe1447Val)
c.4231T>G (p.Phe1411Val)
c.4264T>G (p.Phe1422Val)
c.4336T>G (p.Phe1446Val)
3g.38556485A>GCA352145304SCN5Ac.4390T>C (p.Phe1464Leu)
c.4393T>C (p.Phe1465Leu)
c.4339T>C (p.Phe1447Leu)
c.4231T>C (p.Phe1411Leu)
c.4264T>C (p.Phe1422Leu)
c.4336T>C (p.Phe1446Leu)
 ClinVar dbSNP
3g.38556485A>TCA352145303SCN5Ac.4390T>A (p.Phe1464Ile)
c.4393T>A (p.Phe1465Ile)
c.4339T>A (p.Phe1447Ile)
c.4231T>A (p.Phe1411Ile)
c.4264T>A (p.Phe1422Ile)
c.4336T>A (p.Phe1446Ile)
3g.38556486G>ACA433136048SCN5Ac.4389C>T (p.Leu1463=)
c.4392C>T (p.Leu1464=)
c.4338C>T (p.Leu1446=)
c.4230C>T (p.Leu1410=)
c.4263C>T (p.Leu1421=)
c.4335C>T (p.Leu1445=)
 gnomAD v4
3g.38556486G>CCA433136049SCN5Ac.4389C>G (p.Leu1463=)
c.4392C>G (p.Leu1464=)
c.4338C>G (p.Leu1446=)
c.4230C>G (p.Leu1410=)
c.4263C>G (p.Leu1421=)
c.4335C>G (p.Leu1445=)
3g.38556486G>TCA433136047SCN5Ac.4389C>A (p.Leu1463=)
c.4392C>A (p.Leu1464=)
c.4338C>A (p.Leu1446=)
c.4230C>A (p.Leu1410=)
c.4263C>A (p.Leu1421=)
c.4335C>A (p.Leu1445=)
3g.38556487A=CA1358563458SCN5Ac.4388T= (p.Leu1463=)
c.4391T= (p.Leu1464=)
c.4337T= (p.Leu1446=)
c.4229T= (p.Leu1410=)
c.4262T= (p.Leu1421=)
c.4334T= (p.Leu1445=)
3g.38556487A>CCA352145305SCN5Ac.4388T>G (p.Leu1463Arg)
c.4391T>G (p.Leu1464Arg)
c.4337T>G (p.Leu1446Arg)
c.4229T>G (p.Leu1410Arg)
c.4262T>G (p.Leu1421Arg)
c.4334T>G (p.Leu1445Arg)
3g.38556487A>GCA352145307SCN5Ac.4388T>C (p.Leu1463Pro)
c.4391T>C (p.Leu1464Pro)
c.4337T>C (p.Leu1446Pro)
c.4229T>C (p.Leu1410Pro)
c.4262T>C (p.Leu1421Pro)
c.4334T>C (p.Leu1445Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.38556487A>TCA352145306SCN5Ac.4388T>A (p.Leu1463His)
c.4391T>A (p.Leu1464His)
c.4337T>A (p.Leu1446His)
c.4229T>A (p.Leu1410His)
c.4262T>A (p.Leu1421His)
c.4334T>A (p.Leu1445His)
3g.38556488G>ACA352145308SCN5Ac.4387C>T (p.Leu1463Phe)
c.4390C>T (p.Leu1464Phe)
c.4336C>T (p.Leu1446Phe)
c.4228C>T (p.Leu1410Phe)
c.4261C>T (p.Leu1421Phe)
c.4333C>T (p.Leu1445Phe)
3g.38556488G>CCA352145310SCN5Ac.4387C>G (p.Leu1463Val)
c.4390C>G (p.Leu1464Val)
c.4336C>G (p.Leu1446Val)
c.4228C>G (p.Leu1410Val)
c.4261C>G (p.Leu1421Val)
c.4333C>G (p.Leu1445Val)
3g.38556488G>TCA352145309SCN5Ac.4387C>A (p.Leu1463Ile)
c.4390C>A (p.Leu1464Ile)
c.4336C>A (p.Leu1446Ile)
c.4228C>A (p.Leu1410Ile)
c.4261C>A (p.Leu1421Ile)
c.4333C>A (p.Leu1445Ile)
3g.38556489G>ACA433136053SCN5Ac.4386C>T (p.Asn1462=)
c.4389C>T (p.Asn1463=)
c.4335C>T (p.Asn1445=)
c.4227C>T (p.Asn1409=)
c.4260C>T (p.Asn1420=)
c.4332C>T (p.Asn1444=)
3g.38556489G>CCA352145311SCN5Ac.4386C>G (p.Asn1462Lys)
c.4389C>G (p.Asn1463Lys)
c.4335C>G (p.Asn1445Lys)
c.4227C>G (p.Asn1409Lys)
c.4260C>G (p.Asn1420Lys)
c.4332C>G (p.Asn1444Lys)
3g.38556489G=CA1358563459SCN5Ac.4386C= (p.Asn1462=)
c.4389C= (p.Asn1463=)
c.4335C= (p.Asn1445=)
c.4227C= (p.Asn1409=)
c.4260C= (p.Asn1420=)
c.4332C= (p.Asn1444=)
3g.38556489G>TCA16617945SCN5Ac.4386C>A (p.Asn1462Lys)
c.4389C>A (p.Asn1463Lys)
c.4335C>A (p.Asn1445Lys)
c.4227C>A (p.Asn1409Lys)
c.4260C>A (p.Asn1420Lys)
c.4332C>A (p.Asn1444Lys)
 ClinVar dbSNP
3g.38556490T>ACA352145312SCN5Ac.4385A>T (p.Asn1462Ile)
c.4388A>T (p.Asn1463Ile)
c.4334A>T (p.Asn1445Ile)
c.4226A>T (p.Asn1409Ile)
c.4259A>T (p.Asn1420Ile)
c.4331A>T (p.Asn1444Ile)
3g.38556490T>CCA352145314SCN5Ac.4385A>G (p.Asn1462Ser)
c.4388A>G (p.Asn1463Ser)
c.4334A>G (p.Asn1445Ser)
c.4226A>G (p.Asn1409Ser)
c.4259A>G (p.Asn1420Ser)
c.4331A>G (p.Asn1444Ser)
3g.38556490T>GCA352145313SCN5Ac.4385A>C (p.Asn1462Thr)
c.4388A>C (p.Asn1463Thr)
c.4334A>C (p.Asn1445Thr)
c.4226A>C (p.Asn1409Thr)
c.4259A>C (p.Asn1420Thr)
c.4331A>C (p.Asn1444Thr)
3g.38556491T>ACA018194SCN5Ac.4384A>T (p.Asn1462Tyr)
c.4387A>T (p.Asn1463Tyr)
c.4333A>T (p.Asn1445Tyr)
c.4225A>T (p.Asn1409Tyr)
c.4258A>T (p.Asn1420Tyr)
c.4330A>T (p.Asn1444Tyr)
 ClinVar dbSNP gnomAD v4
3g.38556491T>CCA352145316SCN5Ac.4384A>G (p.Asn1462Asp)
c.4387A>G (p.Asn1463Asp)
c.4333A>G (p.Asn1445Asp)
c.4225A>G (p.Asn1409Asp)
c.4258A>G (p.Asn1420Asp)
c.4330A>G (p.Asn1444Asp)
3g.38556491T>GCA352145315SCN5Ac.4384A>C (p.Asn1462His)
c.4387A>C (p.Asn1463His)
c.4333A>C (p.Asn1445His)
c.4225A>C (p.Asn1409His)
c.4258A>C (p.Asn1420His)
c.4330A>C (p.Asn1444His)
3g.38556491T=CA1358563461SCN5Ac.4384A= (p.Asn1462=)
c.4387A= (p.Asn1463=)
c.4333A= (p.Asn1445=)
c.4225A= (p.Asn1409=)
c.4258A= (p.Asn1420=)
c.4330A= (p.Asn1444=)

Number of alleles fetched