Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38555616A=CA1358562717SCN5Ac.4539+40T= (n.4539+40T=)
c.4542+40T= (n.4542+40T=)
c.4488+40T= (n.4488+40T=)
c.4380+40T= (n.4380+40T=)
c.4413+40T= (n.4413+40T=)
c.4485+40T= (n.4485+40T=)
3g.38555616A>CCA1358562718SCN5Ac.4539+40T>G (n.4539+40T>G)
c.4542+40T>G (n.4542+40T>G)
c.4488+40T>G (n.4488+40T>G)
c.4380+40T>G (n.4380+40T>G)
c.4413+40T>G (n.4413+40T>G)
c.4485+40T>G (n.4485+40T>G)
 dbSNP
3g.38555617G>CCA542269994SCN5Ac.4539+39C>G (n.4539+39C>G)
c.4542+39C>G (n.4542+39C>G)
c.4488+39C>G (n.4488+39C>G)
c.4380+39C>G (n.4380+39C>G)
c.4413+39C>G (n.4413+39C>G)
c.4485+39C>G (n.4485+39C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38555617G=CA1358562719SCN5Ac.4539+39C= (n.4539+39C=)
c.4542+39C= (n.4542+39C=)
c.4488+39C= (n.4488+39C=)
c.4380+39C= (n.4380+39C=)
c.4413+39C= (n.4413+39C=)
c.4485+39C= (n.4485+39C=)
3g.38555618A=CA1358562721SCN5Ac.4539+38T= (n.4539+38T=)
c.4542+38T= (n.4542+38T=)
c.4488+38T= (n.4488+38T=)
c.4380+38T= (n.4380+38T=)
c.4413+38T= (n.4413+38T=)
c.4485+38T= (n.4485+38T=)
3g.38555618A>GCA063349SCN5Ac.4539+38T>C (n.4539+38T>C)
c.4542+38T>C (n.4542+38T>C)
c.4488+38T>C (n.4488+38T>C)
c.4380+38T>C (n.4380+38T>C)
c.4413+38T>C (n.4413+38T>C)
c.4485+38T>C (n.4485+38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555621C>ACA1046992502SCN5Ac.4539+35G>T (n.4539+35G>T)
c.4542+35G>T (n.4542+35G>T)
c.4488+35G>T (n.4488+35G>T)
c.4380+35G>T (n.4380+35G>T)
c.4413+35G>T (n.4413+35G>T)
c.4485+35G>T (n.4485+35G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38555621C=CA1358562723SCN5Ac.4539+35G= (n.4539+35G=)
c.4542+35G= (n.4542+35G=)
c.4488+35G= (n.4488+35G=)
c.4380+35G= (n.4380+35G=)
c.4413+35G= (n.4413+35G=)
c.4485+35G= (n.4485+35G=)
3g.38555621C>TCA2665110704SCN5Ac.4539+35G>A (n.4539+35G>A)
c.4542+35G>A (n.4542+35G>A)
c.4488+35G>A (n.4488+35G>A)
c.4380+35G>A (n.4380+35G>A)
c.4413+35G>A (n.4413+35G>A)
c.4485+35G>A (n.4485+35G>A)
 gnomAD v4
3g.38555626delCA2665110705SCN5Ac.4539+33del (n.4539+33del)
c.4542+33del (n.4542+33del)
c.4488+33del (n.4488+33del)
c.4380+33del (n.4380+33del)
c.4413+33del (n.4413+33del)
c.4485+33del (n.4485+33del)
 gnomAD v4
3g.38555624C>TCA2665110706SCN5Ac.4539+32G>A (n.4539+32G>A)
c.4542+32G>A (n.4542+32G>A)
c.4488+32G>A (n.4488+32G>A)
c.4380+32G>A (n.4380+32G>A)
c.4413+32G>A (n.4413+32G>A)
c.4485+32G>A (n.4485+32G>A)
 gnomAD v4
3g.38555625C>ACA2665110707SCN5Ac.4539+31G>T (n.4539+31G>T)
c.4542+31G>T (n.4542+31G>T)
c.4488+31G>T (n.4488+31G>T)
c.4380+31G>T (n.4380+31G>T)
c.4413+31G>T (n.4413+31G>T)
c.4485+31G>T (n.4485+31G>T)
 gnomAD v4
3g.38555626C>TCA2665110708SCN5Ac.4539+30G>A (n.4539+30G>A)
c.4542+30G>A (n.4542+30G>A)
c.4488+30G>A (n.4488+30G>A)
c.4380+30G>A (n.4380+30G>A)
c.4413+30G>A (n.4413+30G>A)
c.4485+30G>A (n.4485+30G>A)
 gnomAD v4
3g.38555627A=CA1358562725SCN5Ac.4539+29T= (n.4539+29T=)
c.4542+29T= (n.4542+29T=)
c.4488+29T= (n.4488+29T=)
c.4380+29T= (n.4380+29T=)
c.4413+29T= (n.4413+29T=)
c.4485+29T= (n.4485+29T=)
3g.38555627A>CCA1046992504SCN5Ac.4539+29T>G (n.4539+29T>G)
c.4542+29T>G (n.4542+29T>G)
c.4488+29T>G (n.4488+29T>G)
c.4380+29T>G (n.4380+29T>G)
c.4413+29T>G (n.4413+29T>G)
c.4485+29T>G (n.4485+29T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38555627A>GCA542269995SCN5Ac.4539+29T>C (n.4539+29T>C)
c.4542+29T>C (n.4542+29T>C)
c.4488+29T>C (n.4488+29T>C)
c.4380+29T>C (n.4380+29T>C)
c.4413+29T>C (n.4413+29T>C)
c.4485+29T>C (n.4485+29T>C)
 dbSNP gnomAD v2
3g.38555631C>GCA2755901305SCN5Ac.4539+25G>C (n.4539+25G>C)
c.4542+25G>C (n.4542+25G>C)
c.4488+25G>C (n.4488+25G>C)
c.4380+25G>C (n.4380+25G>C)
c.4413+25G>C (n.4413+25G>C)
c.4485+25G>C (n.4485+25G>C)
3g.38555632C>ACA2553518246SCN5Ac.4539+24G>T (n.4539+24G>T)
c.4542+24G>T (n.4542+24G>T)
c.4488+24G>T (n.4488+24G>T)
c.4380+24G>T (n.4380+24G>T)
c.4413+24G>T (n.4413+24G>T)
c.4485+24G>T (n.4485+24G>T)
3g.38555632C=CA1358562727SCN5Ac.4539+24G= (n.4539+24G=)
c.4542+24G= (n.4542+24G=)
c.4488+24G= (n.4488+24G=)
c.4380+24G= (n.4380+24G=)
c.4413+24G= (n.4413+24G=)
c.4485+24G= (n.4485+24G=)
3g.38555632C>TCA906912690SCN5Ac.4539+24G>A (n.4539+24G>A)
c.4542+24G>A (n.4542+24G>A)
c.4488+24G>A (n.4488+24G>A)
c.4380+24G>A (n.4380+24G>A)
c.4413+24G>A (n.4413+24G>A)
c.4485+24G>A (n.4485+24G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38555633A=CA1358562729SCN5Ac.4539+23T= (n.4539+23T=)
c.4542+23T= (n.4542+23T=)
c.4488+23T= (n.4488+23T=)
c.4380+23T= (n.4380+23T=)
c.4413+23T= (n.4413+23T=)
c.4485+23T= (n.4485+23T=)
3g.38555633A>GCA063342SCN5Ac.4539+23T>C (n.4539+23T>C)
c.4542+23T>C (n.4542+23T>C)
c.4488+23T>C (n.4488+23T>C)
c.4380+23T>C (n.4380+23T>C)
c.4413+23T>C (n.4413+23T>C)
c.4485+23T>C (n.4485+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555634C=CA1358562730SCN5Ac.4539+22G= (n.4539+22G=)
c.4542+22G= (n.4542+22G=)
c.4488+22G= (n.4488+22G=)
c.4380+22G= (n.4380+22G=)
c.4413+22G= (n.4413+22G=)
c.4485+22G= (n.4485+22G=)
3g.38555634C>TCA063338SCN5Ac.4539+22G>A (n.4539+22G>A)
c.4542+22G>A (n.4542+22G>A)
c.4488+22G>A (n.4488+22G>A)
c.4380+22G>A (n.4380+22G>A)
c.4413+22G>A (n.4413+22G>A)
c.4485+22G>A (n.4485+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555636A=CA1358562732SCN5Ac.4539+20T= (n.4539+20T=)
c.4542+20T= (n.4542+20T=)
c.4488+20T= (n.4488+20T=)
c.4380+20T= (n.4380+20T=)
c.4413+20T= (n.4413+20T=)
c.4485+20T= (n.4485+20T=)
3g.38555636A>GCA063333SCN5Ac.4539+20T>C (n.4539+20T>C)
c.4542+20T>C (n.4542+20T>C)
c.4488+20T>C (n.4488+20T>C)
c.4380+20T>C (n.4380+20T>C)
c.4413+20T>C (n.4413+20T>C)
c.4485+20T>C (n.4485+20T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555637A>CCA2665110709SCN5Ac.4539+19T>G (n.4539+19T>G)
c.4542+19T>G (n.4542+19T>G)
c.4488+19T>G (n.4488+19T>G)
c.4380+19T>G (n.4380+19T>G)
c.4413+19T>G (n.4413+19T>G)
c.4485+19T>G (n.4485+19T>G)
 gnomAD v4
3g.38555639C>TCA647831724SCN5Ac.4539+17G>A (n.4539+17G>A)
c.4542+17G>A (n.4542+17G>A)
c.4488+17G>A (n.4488+17G>A)
c.4380+17G>A (n.4380+17G>A)
c.4413+17G>A (n.4413+17G>A)
c.4485+17G>A (n.4485+17G>A)
 gnomAD v4 COSMIC
3g.38555640C=CA1358562735SCN5Ac.4539+16G= (n.4539+16G=)
c.4542+16G= (n.4542+16G=)
c.4488+16G= (n.4488+16G=)
c.4380+16G= (n.4380+16G=)
c.4413+16G= (n.4413+16G=)
c.4485+16G= (n.4485+16G=)
3g.38555640C>GCA2501976051SCN5Ac.4539+16G>C (n.4539+16G>C)
c.4542+16G>C (n.4542+16G>C)
c.4488+16G>C (n.4488+16G>C)
c.4380+16G>C (n.4380+16G>C)
c.4413+16G>C (n.4413+16G>C)
c.4485+16G>C (n.4485+16G>C)
 gnomAD v4
3g.38555640C>TCA542269996SCN5Ac.4539+16G>A (n.4539+16G>A)
c.4542+16G>A (n.4542+16G>A)
c.4488+16G>A (n.4488+16G>A)
c.4380+16G>A (n.4380+16G>A)
c.4413+16G>A (n.4413+16G>A)
c.4485+16G>A (n.4485+16G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555641A>GCA2577553307SCN5Ac.4539+15T>C (n.4539+15T>C)
c.4542+15T>C (n.4542+15T>C)
c.4488+15T>C (n.4488+15T>C)
c.4380+15T>C (n.4380+15T>C)
c.4413+15T>C (n.4413+15T>C)
c.4485+15T>C (n.4485+15T>C)
 gnomAD v4
3g.38555642G>ACA2665110710SCN5Ac.4539+14C>T (n.4539+14C>T)
c.4542+14C>T (n.4542+14C>T)
c.4488+14C>T (n.4488+14C>T)
c.4380+14C>T (n.4380+14C>T)
c.4413+14C>T (n.4413+14C>T)
c.4485+14C>T (n.4485+14C>T)
 gnomAD v4
3g.38555643G>CCA2665110711SCN5Ac.4539+13C>G (n.4539+13C>G)
c.4542+13C>G (n.4542+13C>G)
c.4488+13C>G (n.4488+13C>G)
c.4380+13C>G (n.4380+13C>G)
c.4413+13C>G (n.4413+13C>G)
c.4485+13C>G (n.4485+13C>G)
 gnomAD v4
3g.38555643G=CA1358562737SCN5Ac.4539+13C= (n.4539+13C=)
c.4542+13C= (n.4542+13C=)
c.4488+13C= (n.4488+13C=)
c.4380+13C= (n.4380+13C=)
c.4413+13C= (n.4413+13C=)
c.4485+13C= (n.4485+13C=)
3g.38555643G>TCA542269997SCN5Ac.4539+13C>A (n.4539+13C>A)
c.4542+13C>A (n.4542+13C>A)
c.4488+13C>A (n.4488+13C>A)
c.4380+13C>A (n.4380+13C>A)
c.4413+13C>A (n.4413+13C>A)
c.4485+13C>A (n.4485+13C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38555644A>GCA647831726SCN5Ac.4539+12T>C (n.4539+12T>C)
c.4542+12T>C (n.4542+12T>C)
c.4488+12T>C (n.4488+12T>C)
c.4380+12T>C (n.4380+12T>C)
c.4413+12T>C (n.4413+12T>C)
c.4485+12T>C (n.4485+12T>C)
 COSMIC
3g.38555645G>ACA2665110712SCN5Ac.4539+11C>T (n.4539+11C>T)
c.4542+11C>T (n.4542+11C>T)
c.4488+11C>T (n.4488+11C>T)
c.4380+11C>T (n.4380+11C>T)
c.4413+11C>T (n.4413+11C>T)
c.4485+11C>T (n.4485+11C>T)
 gnomAD v4
3g.38555646C=CA1358562739SCN5Ac.4539+10G= (n.4539+10G=)
c.4542+10G= (n.4542+10G=)
c.4488+10G= (n.4488+10G=)
c.4380+10G= (n.4380+10G=)
c.4413+10G= (n.4413+10G=)
c.4485+10G= (n.4485+10G=)
3g.38555646C>TCA72942964SCN5Ac.4539+10G>A (n.4539+10G>A)
c.4542+10G>A (n.4542+10G>A)
c.4488+10G>A (n.4488+10G>A)
c.4380+10G>A (n.4380+10G>A)
c.4413+10G>A (n.4413+10G>A)
c.4485+10G>A (n.4485+10G>A)
 dbSNP
3g.38555647C>ACA1358562743SCN5Ac.4539+9G>T (n.4539+9G>T)
c.4542+9G>T (n.4542+9G>T)
c.4488+9G>T (n.4488+9G>T)
c.4380+9G>T (n.4380+9G>T)
c.4413+9G>T (n.4413+9G>T)
c.4485+9G>T (n.4485+9G>T)
 dbSNP
3g.38555647C=CA1358562741SCN5Ac.4539+9G= (n.4539+9G=)
c.4542+9G= (n.4542+9G=)
c.4488+9G= (n.4488+9G=)
c.4380+9G= (n.4380+9G=)
c.4413+9G= (n.4413+9G=)
c.4485+9G= (n.4485+9G=)
3g.38555647C>TCA2739278196SCN5Ac.4539+9G>A (n.4539+9G>A)
c.4542+9G>A (n.4542+9G>A)
c.4488+9G>A (n.4488+9G>A)
c.4380+9G>A (n.4380+9G>A)
c.4413+9G>A (n.4413+9G>A)
c.4485+9G>A (n.4485+9G>A)
 ClinVar
3g.38555648T>CCA2573136300SCN5Ac.4539+8A>G (n.4539+8A>G)
c.4542+8A>G (n.4542+8A>G)
c.4488+8A>G (n.4488+8A>G)
c.4380+8A>G (n.4380+8A>G)
c.4413+8A>G (n.4413+8A>G)
c.4485+8A>G (n.4485+8A>G)
 ClinVar dbSNP
3g.38555650G>ACA2665110713SCN5Ac.4539+6C>T (n.4539+6C>T)
c.4542+6C>T (n.4542+6C>T)
c.4488+6C>T (n.4488+6C>T)
c.4380+6C>T (n.4380+6C>T)
c.4413+6C>T (n.4413+6C>T)
c.4485+6C>T (n.4485+6C>T)
 gnomAD v4
3g.38555650G>CCA1139657971SCN5Ac.4539+6C>G (n.4539+6C>G)
c.4542+6C>G (n.4542+6C>G)
c.4488+6C>G (n.4488+6C>G)
c.4380+6C>G (n.4380+6C>G)
c.4413+6C>G (n.4413+6C>G)
c.4485+6C>G (n.4485+6C>G)
 ClinVar dbSNP gnomAD v4
3g.38555650G=CA1358562747SCN5Ac.4539+6C= (n.4539+6C=)
c.4542+6C= (n.4542+6C=)
c.4488+6C= (n.4488+6C=)
c.4380+6C= (n.4380+6C=)
c.4413+6C= (n.4413+6C=)
c.4485+6C= (n.4485+6C=)
3g.38555652T>CCA542269998SCN5Ac.4539+4A>G (n.4539+4A>G)
c.4542+4A>G (n.4542+4A>G)
c.4488+4A>G (n.4488+4A>G)
c.4380+4A>G (n.4380+4A>G)
c.4413+4A>G (n.4413+4A>G)
c.4485+4A>G (n.4485+4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555652T=CA1358562750SCN5Ac.4539+4A= (n.4539+4A=)
c.4542+4A= (n.4542+4A=)
c.4488+4A= (n.4488+4A=)
c.4380+4A= (n.4380+4A=)
c.4413+4A= (n.4413+4A=)
c.4485+4A= (n.4485+4A=)
3g.38555653C>ACA2665110714SCN5Ac.4539+3G>T (n.4539+3G>T)
c.4542+3G>T (n.4542+3G>T)
c.4488+3G>T (n.4488+3G>T)
c.4380+3G>T (n.4380+3G>T)
c.4413+3G>T (n.4413+3G>T)
c.4485+3G>T (n.4485+3G>T)
 gnomAD v4
3g.38555654A>CCA352144179SCN5Ac.4539+2T>G (n.4539+2T>G)
c.4542+2T>G (n.4542+2T>G)
c.4488+2T>G (n.4488+2T>G)
c.4380+2T>G (n.4380+2T>G)
c.4413+2T>G (n.4413+2T>G)
c.4485+2T>G (n.4485+2T>G)
3g.38555654A>GCA352144178SCN5Ac.4539+2T>C (n.4539+2T>C)
c.4542+2T>C (n.4542+2T>C)
c.4488+2T>C (n.4488+2T>C)
c.4380+2T>C (n.4380+2T>C)
c.4413+2T>C (n.4413+2T>C)
c.4485+2T>C (n.4485+2T>C)
3g.38555654A>TCA352144177SCN5Ac.4539+2T>A (n.4539+2T>A)
c.4542+2T>A (n.4542+2T>A)
c.4488+2T>A (n.4488+2T>A)
c.4380+2T>A (n.4380+2T>A)
c.4413+2T>A (n.4413+2T>A)
c.4485+2T>A (n.4485+2T>A)
3g.38555655C>ACA352144180SCN5Ac.4539+1G>T (n.4539+1G>T)
c.4542+1G>T (n.4542+1G>T)
c.4488+1G>T (n.4488+1G>T)
c.4380+1G>T (n.4380+1G>T)
c.4413+1G>T (n.4413+1G>T)
c.4485+1G>T (n.4485+1G>T)
3g.38555655C=CA1358562753SCN5Ac.4539+1G= (n.4539+1G=)
c.4542+1G= (n.4542+1G=)
c.4488+1G= (n.4488+1G=)
c.4380+1G= (n.4380+1G=)
c.4413+1G= (n.4413+1G=)
c.4485+1G= (n.4485+1G=)
3g.38555655C>GCA352144182SCN5Ac.4539+1G>C (n.4539+1G>C)
c.4542+1G>C (n.4542+1G>C)
c.4488+1G>C (n.4488+1G>C)
c.4380+1G>C (n.4380+1G>C)
c.4413+1G>C (n.4413+1G>C)
c.4485+1G>C (n.4485+1G>C)
3g.38555655C>TCA352144181SCN5Ac.4539+1G>A (n.4539+1G>A)
c.4542+1G>A (n.4542+1G>A)
c.4488+1G>A (n.4488+1G>A)
c.4380+1G>A (n.4380+1G>A)
c.4413+1G>A (n.4413+1G>A)
c.4485+1G>A (n.4485+1G>A)
 dbSNP
3g.38555656C>ACA433135577SCN5Ac.4539G>T (p.Leu1513=)
c.4542G>T (p.Leu1514=)
c.4488G>T (p.Leu1496=)
c.4380G>T (p.Leu1460=)
c.4413G>T (p.Leu1471=)
c.4485G>T (p.Leu1495=)
3g.38555656C=CA1358562755SCN5Ac.4539G= (p.Leu1513=)
c.4542G= (p.Leu1514=)
c.4488G= (p.Leu1496=)
c.4380G= (p.Leu1460=)
c.4413G= (p.Leu1471=)
c.4485G= (p.Leu1495=)
3g.38555656C>GCA063354SCN5Ac.4539G>C (p.Leu1513=)
c.4542G>C (p.Leu1514=)
c.4488G>C (p.Leu1496=)
c.4380G>C (p.Leu1460=)
c.4413G>C (p.Leu1471=)
c.4485G>C (p.Leu1495=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555656C>TCA433135580SCN5Ac.4539G>A (p.Leu1513=)
c.4542G>A (p.Leu1514=)
c.4488G>A (p.Leu1496=)
c.4380G>A (p.Leu1460=)
c.4413G>A (p.Leu1471=)
c.4485G>A (p.Leu1495=)
3g.38555657A>CCA352144183SCN5Ac.4538T>G (p.Leu1513Arg)
c.4541T>G (p.Leu1514Arg)
c.4487T>G (p.Leu1496Arg)
c.4379T>G (p.Leu1460Arg)
c.4412T>G (p.Leu1471Arg)
c.4484T>G (p.Leu1495Arg)
3g.38555657A>GCA352144184SCN5Ac.4538T>C (p.Leu1513Pro)
c.4541T>C (p.Leu1514Pro)
c.4487T>C (p.Leu1496Pro)
c.4379T>C (p.Leu1460Pro)
c.4412T>C (p.Leu1471Pro)
c.4484T>C (p.Leu1495Pro)
3g.38555657A>TCA352144185SCN5Ac.4538T>A (p.Leu1513Gln)
c.4541T>A (p.Leu1514Gln)
c.4487T>A (p.Leu1496Gln)
c.4379T>A (p.Leu1460Gln)
c.4412T>A (p.Leu1471Gln)
c.4484T>A (p.Leu1495Gln)
3g.38555657dupCA2580069805SCN5Ac.4538dup (p.Asn1514GlufsTer17)
c.4541dup (p.Asn1515GlufsTer17)
c.4487dup (p.Asn1497GlufsTer17)
c.4379dup (p.Asn1461GlufsTer17)
c.4412dup (p.Asn1472GlufsTer17)
c.4484dup (p.Asn1496GlufsTer17)
 ClinVar
3g.38555658G>ACA433135583SCN5Ac.4537C>T (p.Leu1513=)
c.4540C>T (p.Leu1514=)
c.4486C>T (p.Leu1496=)
c.4378C>T (p.Leu1460=)
c.4411C>T (p.Leu1471=)
c.4483C>T (p.Leu1495=)
3g.38555658G>CCA352144186SCN5Ac.4537C>G (p.Leu1513Val)
c.4540C>G (p.Leu1514Val)
c.4486C>G (p.Leu1496Val)
c.4378C>G (p.Leu1460Val)
c.4411C>G (p.Leu1471Val)
c.4483C>G (p.Leu1495Val)
3g.38555658G=CA1358562758SCN5Ac.4537C= (p.Leu1513=)
c.4540C= (p.Leu1514=)
c.4486C= (p.Leu1496=)
c.4378C= (p.Leu1460=)
c.4411C= (p.Leu1471=)
c.4483C= (p.Leu1495=)
3g.38555658G>TCA352144187SCN5Ac.4537C>A (p.Leu1513Met)
c.4540C>A (p.Leu1514Met)
c.4486C>A (p.Leu1496Met)
c.4378C>A (p.Leu1460Met)
c.4411C>A (p.Leu1471Met)
c.4483C>A (p.Leu1495Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555661dupCA2739278197SCN5Ac.4537dup (p.Leu1513ProfsTer18)
c.4540dup (p.Leu1514ProfsTer18)
c.4486dup (p.Leu1496ProfsTer18)
c.4378dup (p.Leu1460ProfsTer18)
c.4411dup (p.Leu1471ProfsTer18)
c.4483dup (p.Leu1495ProfsTer18)
 ClinVar
3g.38555659G>ACA433135593SCN5Ac.4536C>T (p.Pro1512=)
c.4539C>T (p.Pro1513=)
c.4485C>T (p.Pro1495=)
c.4377C>T (p.Pro1459=)
c.4410C>T (p.Pro1470=)
c.4482C>T (p.Pro1494=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38555659G>CCA433135595SCN5Ac.4536C>G (p.Pro1512=)
c.4539C>G (p.Pro1513=)
c.4485C>G (p.Pro1495=)
c.4377C>G (p.Pro1459=)
c.4410C>G (p.Pro1470=)
c.4482C>G (p.Pro1494=)
3g.38555659G>TCA433135596SCN5Ac.4536C>A (p.Pro1512=)
c.4539C>A (p.Pro1513=)
c.4485C>A (p.Pro1495=)
c.4377C>A (p.Pro1459=)
c.4410C>A (p.Pro1470=)
c.4482C>A (p.Pro1494=)
3g.38555660G>ACA352144188SCN5Ac.4535C>T (p.Pro1512Leu)
c.4538C>T (p.Pro1513Leu)
c.4484C>T (p.Pro1495Leu)
c.4376C>T (p.Pro1459Leu)
c.4409C>T (p.Pro1470Leu)
c.4481C>T (p.Pro1494Leu)
 gnomAD v4
3g.38555660G>CCA352144189SCN5Ac.4535C>G (p.Pro1512Arg)
c.4538C>G (p.Pro1513Arg)
c.4484C>G (p.Pro1495Arg)
c.4376C>G (p.Pro1459Arg)
c.4409C>G (p.Pro1470Arg)
c.4481C>G (p.Pro1494Arg)
3g.38555660G>TCA352144190SCN5Ac.4535C>A (p.Pro1512His)
c.4538C>A (p.Pro1513His)
c.4484C>A (p.Pro1495His)
c.4376C>A (p.Pro1459His)
c.4409C>A (p.Pro1470His)
c.4481C>A (p.Pro1494His)
3g.38555661G>ACA352144191SCN5Ac.4534C>T (p.Pro1512Ser)
c.4537C>T (p.Pro1513Ser)
c.4483C>T (p.Pro1495Ser)
c.4375C>T (p.Pro1459Ser)
c.4408C>T (p.Pro1470Ser)
c.4480C>T (p.Pro1494Ser)
 ClinVar gnomAD v4
3g.38555661G>CCA352144192SCN5Ac.4534C>G (p.Pro1512Ala)
c.4537C>G (p.Pro1513Ala)
c.4483C>G (p.Pro1495Ala)
c.4375C>G (p.Pro1459Ala)
c.4408C>G (p.Pro1470Ala)
c.4480C>G (p.Pro1494Ala)
3g.38555661G>TCA352144193SCN5Ac.4534C>A (p.Pro1512Thr)
c.4537C>A (p.Pro1513Thr)
c.4483C>A (p.Pro1495Thr)
c.4375C>A (p.Pro1459Thr)
c.4408C>A (p.Pro1470Thr)
c.4480C>A (p.Pro1494Thr)
3g.38555662C>ACA433135603SCN5Ac.4533G>T (p.Arg1511=)
c.4536G>T (p.Arg1512=)
c.4482G>T (p.Arg1494=)
c.4374G>T (p.Arg1458=)
c.4407G>T (p.Arg1469=)
c.4479G>T (p.Arg1493=)
3g.38555662C=CA1358562763SCN5Ac.4533G= (p.Arg1511=)
c.4536G= (p.Arg1512=)
c.4482G= (p.Arg1494=)
c.4374G= (p.Arg1458=)
c.4407G= (p.Arg1469=)
c.4479G= (p.Arg1493=)
3g.38555662C>GCA433135605SCN5Ac.4533G>C (p.Arg1511=)
c.4536G>C (p.Arg1512=)
c.4482G>C (p.Arg1494=)
c.4374G>C (p.Arg1458=)
c.4407G>C (p.Arg1469=)
c.4479G>C (p.Arg1493=)
3g.38555662C>TCA063321SCN5Ac.4533G>A (p.Arg1511=)
c.4536G>A (p.Arg1512=)
c.4482G>A (p.Arg1494=)
c.4374G>A (p.Arg1458=)
c.4407G>A (p.Arg1469=)
c.4479G>A (p.Arg1493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555663C>ACA063314SCN5Ac.4532G>T (p.Arg1511Leu)
c.4535G>T (p.Arg1512Leu)
c.4481G>T (p.Arg1494Leu)
c.4373G>T (p.Arg1458Leu)
c.4406G>T (p.Arg1469Leu)
c.4478G>T (p.Arg1493Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555663C=CA1358562769SCN5Ac.4532G= (p.Arg1511=)
c.4535G= (p.Arg1512=)
c.4481G= (p.Arg1494=)
c.4373G= (p.Arg1458=)
c.4406G= (p.Arg1469=)
c.4478G= (p.Arg1493=)
3g.38555663C>GCA352144194SCN5Ac.4532G>C (p.Arg1511Pro)
c.4535G>C (p.Arg1512Pro)
c.4481G>C (p.Arg1494Pro)
c.4373G>C (p.Arg1458Pro)
c.4406G>C (p.Arg1469Pro)
c.4478G>C (p.Arg1493Pro)
 ClinVar
3g.38555663C>TCA063309SCN5Ac.4532G>A (p.Arg1511Gln)
c.4535G>A (p.Arg1512Gln)
c.4481G>A (p.Arg1494Gln)
c.4373G>A (p.Arg1458Gln)
c.4406G>A (p.Arg1469Gln)
c.4478G>A (p.Arg1493Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555664G>ACA018413SCN5Ac.4531C>T (p.Arg1511Trp)
c.4534C>T (p.Arg1512Trp)
c.4480C>T (p.Arg1494Trp)
c.4372C>T (p.Arg1458Trp)
c.4405C>T (p.Arg1469Trp)
c.4477C>T (p.Arg1493Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38555664G>CCA352144195SCN5Ac.4531C>G (p.Arg1511Gly)
c.4534C>G (p.Arg1512Gly)
c.4480C>G (p.Arg1494Gly)
c.4372C>G (p.Arg1458Gly)
c.4405C>G (p.Arg1469Gly)
c.4477C>G (p.Arg1493Gly)
3g.38555664G=CA1358562782SCN5Ac.4531C= (p.Arg1511=)
c.4534C= (p.Arg1512=)
c.4480C= (p.Arg1494=)
c.4372C= (p.Arg1458=)
c.4405C= (p.Arg1469=)
c.4477C= (p.Arg1493=)
3g.38555664G>TCA433135612SCN5Ac.4531C>A (p.Arg1511=)
c.4534C>A (p.Arg1512=)
c.4480C>A (p.Arg1494=)
c.4372C>A (p.Arg1458=)
c.4405C>A (p.Arg1469=)
c.4477C>A (p.Arg1493=)
3g.38555665T>ACA433135614SCN5Ac.4530A>T (p.Pro1510=)
c.4533A>T (p.Pro1511=)
c.4479A>T (p.Pro1493=)
c.4371A>T (p.Pro1457=)
c.4404A>T (p.Pro1468=)
c.4476A>T (p.Pro1492=)
 gnomAD v4
3g.38555665T>CCA433135616SCN5Ac.4530A>G (p.Pro1510=)
c.4533A>G (p.Pro1511=)
c.4479A>G (p.Pro1493=)
c.4371A>G (p.Pro1457=)
c.4404A>G (p.Pro1468=)
c.4476A>G (p.Pro1492=)
3g.38555665T>GCA433135617SCN5Ac.4530A>C (p.Pro1510=)
c.4533A>C (p.Pro1511=)
c.4479A>C (p.Pro1493=)
c.4371A>C (p.Pro1457=)
c.4404A>C (p.Pro1468=)
c.4476A>C (p.Pro1492=)
3g.38555665T=CA1358562785SCN5Ac.4530A= (p.Pro1510=)
c.4533A= (p.Pro1511=)
c.4479A= (p.Pro1493=)
c.4371A= (p.Pro1457=)
c.4404A= (p.Pro1468=)
c.4476A= (p.Pro1492=)
3g.38555666G>ACA352144196SCN5Ac.4529C>T (p.Pro1510Leu)
c.4532C>T (p.Pro1511Leu)
c.4478C>T (p.Pro1493Leu)
c.4370C>T (p.Pro1457Leu)
c.4403C>T (p.Pro1468Leu)
c.4475C>T (p.Pro1492Leu)
 gnomAD v4
3g.38555666G>CCA352144197SCN5Ac.4529C>G (p.Pro1510Arg)
c.4532C>G (p.Pro1511Arg)
c.4478C>G (p.Pro1493Arg)
c.4370C>G (p.Pro1457Arg)
c.4403C>G (p.Pro1468Arg)
c.4475C>G (p.Pro1492Arg)
3g.38555666G>TCA352144198SCN5Ac.4529C>A (p.Pro1510Gln)
c.4532C>A (p.Pro1511Gln)
c.4478C>A (p.Pro1493Gln)
c.4370C>A (p.Pro1457Gln)
c.4403C>A (p.Pro1468Gln)
c.4475C>A (p.Pro1492Gln)
3g.38555666_38555668dupCA891842596SCN5Ac.4527_4529dup (p.Pro1510_Arg1511insPro)
c.4530_4532dup (p.Pro1511_Arg1512insPro)
c.4476_4478dup (p.Pro1493_Arg1494insPro)
c.4368_4370dup (p.Pro1457_Arg1458insPro)
c.4401_4403dup (p.Pro1468_Arg1469insPro)
c.4473_4475dup (p.Pro1492_Arg1493insPro)
 ClinVar dbSNP
3g.38555667G>ACA352144199SCN5Ac.4528C>T (p.Pro1510Ser)
c.4531C>T (p.Pro1511Ser)
c.4477C>T (p.Pro1493Ser)
c.4369C>T (p.Pro1457Ser)
c.4402C>T (p.Pro1468Ser)
c.4474C>T (p.Pro1492Ser)
 gnomAD v4
3g.38555667G>CCA352144200SCN5Ac.4528C>G (p.Pro1510Ala)
c.4531C>G (p.Pro1511Ala)
c.4477C>G (p.Pro1493Ala)
c.4369C>G (p.Pro1457Ala)
c.4402C>G (p.Pro1468Ala)
c.4474C>G (p.Pro1492Ala)
3g.38555667G>TCA352144201SCN5Ac.4528C>A (p.Pro1510Thr)
c.4531C>A (p.Pro1511Thr)
c.4477C>A (p.Pro1493Thr)
c.4369C>A (p.Pro1457Thr)
c.4402C>A (p.Pro1468Thr)
c.4474C>A (p.Pro1492Thr)
3g.38555668G>ACA72942992SCN5Ac.4527C>T (p.Ile1509=)
c.4530C>T (p.Ile1510=)
c.4476C>T (p.Ile1492=)
c.4368C>T (p.Ile1456=)
c.4401C>T (p.Ile1467=)
c.4473C>T (p.Ile1491=)
 dbSNP gnomAD v4
3g.38555668G>CCA352144202SCN5Ac.4527C>G (p.Ile1509Met)
c.4530C>G (p.Ile1510Met)
c.4476C>G (p.Ile1492Met)
c.4368C>G (p.Ile1456Met)
c.4401C>G (p.Ile1467Met)
c.4473C>G (p.Ile1491Met)
3g.38555668G=CA1358562790SCN5Ac.4527C= (p.Ile1509=)
c.4530C= (p.Ile1510=)
c.4476C= (p.Ile1492=)
c.4368C= (p.Ile1456=)
c.4401C= (p.Ile1467=)
c.4473C= (p.Ile1491=)
3g.38555668G>TCA433135627SCN5Ac.4527C>A (p.Ile1509=)
c.4530C>A (p.Ile1510=)
c.4476C>A (p.Ile1492=)
c.4368C>A (p.Ile1456=)
c.4401C>A (p.Ile1467=)
c.4473C>A (p.Ile1491=)
3g.38555669A>CCA352144205SCN5Ac.4526T>G (p.Ile1509Ser)
c.4529T>G (p.Ile1510Ser)
c.4475T>G (p.Ile1492Ser)
c.4367T>G (p.Ile1456Ser)
c.4400T>G (p.Ile1467Ser)
c.4472T>G (p.Ile1491Ser)
3g.38555669A>GCA352144204SCN5Ac.4526T>C (p.Ile1509Thr)
c.4529T>C (p.Ile1510Thr)
c.4475T>C (p.Ile1492Thr)
c.4367T>C (p.Ile1456Thr)
c.4400T>C (p.Ile1467Thr)
c.4472T>C (p.Ile1491Thr)
3g.38555669A>TCA352144203SCN5Ac.4526T>A (p.Ile1509Asn)
c.4529T>A (p.Ile1510Asn)
c.4475T>A (p.Ile1492Asn)
c.4367T>A (p.Ile1456Asn)
c.4400T>A (p.Ile1467Asn)
c.4472T>A (p.Ile1491Asn)
3g.38555670T>ACA352144206SCN5Ac.4525A>T (p.Ile1509Phe)
c.4528A>T (p.Ile1510Phe)
c.4474A>T (p.Ile1492Phe)
c.4366A>T (p.Ile1456Phe)
c.4399A>T (p.Ile1467Phe)
c.4471A>T (p.Ile1491Phe)
3g.38555670T>CCA352144207SCN5Ac.4525A>G (p.Ile1509Val)
c.4528A>G (p.Ile1510Val)
c.4474A>G (p.Ile1492Val)
c.4366A>G (p.Ile1456Val)
c.4399A>G (p.Ile1467Val)
c.4471A>G (p.Ile1491Val)
3g.38555670T>GCA352144208SCN5Ac.4525A>C (p.Ile1509Leu)
c.4528A>C (p.Ile1510Leu)
c.4474A>C (p.Ile1492Leu)
c.4366A>C (p.Ile1456Leu)
c.4399A>C (p.Ile1467Leu)
c.4471A>C (p.Ile1491Leu)
 ClinVar dbSNP gnomAD v4
3g.38555670_38555679delinsTGGGCTTCTGCA1358562792SCN5Ac.4516_4525delinsCAGAAGCCCA (p.Gln1506=)
c.4519_4528delinsCAGAAGCCCA (p.Gln1507=)
c.4465_4474delinsCAGAAGCCCA (p.Gln1489=)
c.4357_4366delinsCAGAAGCCCA (p.Gln1453=)
c.4390_4399delinsCAGAAGCCCA (p.Gln1464=)
c.4462_4471delinsCAGAAGCCCA (p.Gln1488=)
3g.38555671G>ACA063299SCN5Ac.4524C>T (p.Pro1508=)
c.4527C>T (p.Pro1509=)
c.4473C>T (p.Pro1491=)
c.4365C>T (p.Pro1455=)
c.4398C>T (p.Pro1466=)
c.4470C>T (p.Pro1490=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555671G>CCA433135634SCN5Ac.4524C>G (p.Pro1508=)
c.4527C>G (p.Pro1509=)
c.4473C>G (p.Pro1491=)
c.4365C>G (p.Pro1455=)
c.4398C>G (p.Pro1466=)
c.4470C>G (p.Pro1490=)
3g.38555671G=CA1358562799SCN5Ac.4524C= (p.Pro1508=)
c.4527C= (p.Pro1509=)
c.4473C= (p.Pro1491=)
c.4365C= (p.Pro1455=)
c.4398C= (p.Pro1466=)
c.4470C= (p.Pro1490=)
3g.38555671G>TCA433135635SCN5Ac.4524C>A (p.Pro1508=)
c.4527C>A (p.Pro1509=)
c.4473C>A (p.Pro1491=)
c.4365C>A (p.Pro1455=)
c.4398C>A (p.Pro1466=)
c.4470C>A (p.Pro1490=)
3g.38555679_38555687dupCA2586965705SCN5Ac.4516_4524dup (p.Pro1508_Ile1509insGlnLysPro)
c.4519_4527dup (p.Pro1509_Ile1510insGlnLysPro)
c.4465_4473dup (p.Pro1491_Ile1492insGlnLysPro)
c.4357_4365dup (p.Pro1455_Ile1456insGlnLysPro)
c.4390_4398dup (p.Pro1466_Ile1467insGlnLysPro)
c.4462_4470dup (p.Pro1490_Ile1491insGlnLysPro)
 ClinVar
3g.38555679_38555687delCA018388SCN5Ac.4516_4524del (p.Gln1506_Pro1508del)
c.4519_4527del (p.Gln1507_Pro1509del)
c.4465_4473del (p.Gln1489_Pro1491del)
c.4357_4365del (p.Gln1453_Pro1455del)
c.4390_4398del (p.Gln1464_Pro1466del)
c.4462_4470del (p.Gln1488_Pro1490del)
 ClinVar dbSNP
3g.38555672G>ACA352144209SCN5Ac.4523C>T (p.Pro1508Leu)
c.4526C>T (p.Pro1509Leu)
c.4472C>T (p.Pro1491Leu)
c.4364C>T (p.Pro1455Leu)
c.4397C>T (p.Pro1466Leu)
c.4469C>T (p.Pro1490Leu)
3g.38555672G>CCA352144210SCN5Ac.4523C>G (p.Pro1508Arg)
c.4526C>G (p.Pro1509Arg)
c.4472C>G (p.Pro1491Arg)
c.4364C>G (p.Pro1455Arg)
c.4397C>G (p.Pro1466Arg)
c.4469C>G (p.Pro1490Arg)
3g.38555672G>TCA352144211SCN5Ac.4523C>A (p.Pro1508His)
c.4526C>A (p.Pro1509His)
c.4472C>A (p.Pro1491His)
c.4364C>A (p.Pro1455His)
c.4397C>A (p.Pro1466His)
c.4469C>A (p.Pro1490His)
3g.38555673G>ACA352144212SCN5Ac.4522C>T (p.Pro1508Ser)
c.4525C>T (p.Pro1509Ser)
c.4471C>T (p.Pro1491Ser)
c.4363C>T (p.Pro1455Ser)
c.4396C>T (p.Pro1466Ser)
c.4468C>T (p.Pro1490Ser)
 ClinVar dbSNP
3g.38555673G>CCA352144213SCN5Ac.4522C>G (p.Pro1508Ala)
c.4525C>G (p.Pro1509Ala)
c.4471C>G (p.Pro1491Ala)
c.4363C>G (p.Pro1455Ala)
c.4396C>G (p.Pro1466Ala)
c.4468C>G (p.Pro1490Ala)
3g.38555673G=CA1358562804SCN5Ac.4522C= (p.Pro1508=)
c.4525C= (p.Pro1509=)
c.4471C= (p.Pro1491=)
c.4363C= (p.Pro1455=)
c.4396C= (p.Pro1466=)
c.4468C= (p.Pro1490=)
3g.38555673G>TCA063293SCN5Ac.4522C>A (p.Pro1508Thr)
c.4525C>A (p.Pro1509Thr)
c.4471C>A (p.Pro1491Thr)
c.4363C>A (p.Pro1455Thr)
c.4396C>A (p.Pro1466Thr)
c.4468C>A (p.Pro1490Thr)
 dbSNP ExAC gnomAD v2
3g.38555674C>ACA352144214SCN5Ac.4521G>T (p.Lys1507Asn)
c.4524G>T (p.Lys1508Asn)
c.4470G>T (p.Lys1490Asn)
c.4362G>T (p.Lys1454Asn)
c.4395G>T (p.Lys1465Asn)
c.4467G>T (p.Lys1489Asn)
3g.38555674C>GCA352144215SCN5Ac.4521G>C (p.Lys1507Asn)
c.4524G>C (p.Lys1508Asn)
c.4470G>C (p.Lys1490Asn)
c.4362G>C (p.Lys1454Asn)
c.4395G>C (p.Lys1465Asn)
c.4467G>C (p.Lys1489Asn)
3g.38555674C>TCA433135645SCN5Ac.4521G>A (p.Lys1507=)
c.4524G>A (p.Lys1508=)
c.4470G>A (p.Lys1490=)
c.4362G>A (p.Lys1454=)
c.4395G>A (p.Lys1465=)
c.4467G>A (p.Lys1489=)
3g.38555675T>ACA352144218SCN5Ac.4520A>T (p.Lys1507Met)
c.4523A>T (p.Lys1508Met)
c.4469A>T (p.Lys1490Met)
c.4361A>T (p.Lys1454Met)
c.4394A>T (p.Lys1465Met)
c.4466A>T (p.Lys1489Met)
3g.38555675T>CCA352144216SCN5Ac.4520A>G (p.Lys1507Arg)
c.4523A>G (p.Lys1508Arg)
c.4469A>G (p.Lys1490Arg)
c.4361A>G (p.Lys1454Arg)
c.4394A>G (p.Lys1465Arg)
c.4466A>G (p.Lys1489Arg)
 ClinVar dbSNP
3g.38555675T>GCA352144217SCN5Ac.4520A>C (p.Lys1507Thr)
c.4523A>C (p.Lys1508Thr)
c.4469A>C (p.Lys1490Thr)
c.4361A>C (p.Lys1454Thr)
c.4394A>C (p.Lys1465Thr)
c.4466A>C (p.Lys1489Thr)
3g.38555676T>ACA352144219SCN5Ac.4519A>T (p.Lys1507Ter)
c.4522A>T (p.Lys1508Ter)
c.4468A>T (p.Lys1490Ter)
c.4360A>T (p.Lys1454Ter)
c.4393A>T (p.Lys1465Ter)
c.4465A>T (p.Lys1489Ter)
 dbSNP
3g.38555676T>CCA352144220SCN5Ac.4519A>G (p.Lys1507Glu)
c.4522A>G (p.Lys1508Glu)
c.4468A>G (p.Lys1490Glu)
c.4360A>G (p.Lys1454Glu)
c.4393A>G (p.Lys1465Glu)
c.4465A>G (p.Lys1489Glu)
 gnomAD v4
3g.38555676T>GCA352144221SCN5Ac.4519A>C (p.Lys1507Gln)
c.4522A>C (p.Lys1508Gln)
c.4468A>C (p.Lys1490Gln)
c.4360A>C (p.Lys1454Gln)
c.4393A>C (p.Lys1465Gln)
c.4465A>C (p.Lys1489Gln)
3g.38555676T=CA1358562810SCN5Ac.4519A= (p.Lys1507=)
c.4522A= (p.Lys1508=)
c.4468A= (p.Lys1490=)
c.4360A= (p.Lys1454=)
c.4393A= (p.Lys1465=)
c.4465A= (p.Lys1489=)
3g.38555677C>ACA352144222SCN5Ac.4518G>T (p.Gln1506His)
c.4521G>T (p.Gln1507His)
c.4467G>T (p.Gln1489His)
c.4359G>T (p.Gln1453His)
c.4392G>T (p.Gln1464His)
c.4464G>T (p.Gln1488His)
3g.38555677C>GCA352144223SCN5Ac.4518G>C (p.Gln1506His)
c.4521G>C (p.Gln1507His)
c.4467G>C (p.Gln1489His)
c.4359G>C (p.Gln1453His)
c.4392G>C (p.Gln1464His)
c.4464G>C (p.Gln1488His)
3g.38555677C>TCA433135652SCN5Ac.4518G>A (p.Gln1506=)
c.4521G>A (p.Gln1507=)
c.4467G>A (p.Gln1489=)
c.4359G>A (p.Gln1453=)
c.4392G>A (p.Gln1464=)
c.4464G>A (p.Gln1488=)
 COSMIC COSMIC COSMIC
3g.38555678T>ACA352144224SCN5Ac.4517A>T (p.Gln1506Leu)
c.4520A>T (p.Gln1507Leu)
c.4466A>T (p.Gln1489Leu)
c.4358A>T (p.Gln1453Leu)
c.4391A>T (p.Gln1464Leu)
c.4463A>T (p.Gln1488Leu)
3g.38555678T>CCA352144225SCN5Ac.4517A>G (p.Gln1506Arg)
c.4520A>G (p.Gln1507Arg)
c.4466A>G (p.Gln1489Arg)
c.4358A>G (p.Gln1453Arg)
c.4391A>G (p.Gln1464Arg)
c.4463A>G (p.Gln1488Arg)
3g.38555678T>GCA352144226SCN5Ac.4517A>C (p.Gln1506Pro)
c.4520A>C (p.Gln1507Pro)
c.4466A>C (p.Gln1489Pro)
c.4358A>C (p.Gln1453Pro)
c.4391A>C (p.Gln1464Pro)
c.4463A>C (p.Gln1488Pro)
3g.38555679G>ACA352144227SCN5Ac.4516C>T (p.Gln1506Ter)
c.4519C>T (p.Gln1507Ter)
c.4465C>T (p.Gln1489Ter)
c.4357C>T (p.Gln1453Ter)
c.4390C>T (p.Gln1464Ter)
c.4462C>T (p.Gln1488Ter)
3g.38555679G>CCA352144228SCN5Ac.4516C>G (p.Gln1506Glu)
c.4519C>G (p.Gln1507Glu)
c.4465C>G (p.Gln1489Glu)
c.4357C>G (p.Gln1453Glu)
c.4390C>G (p.Gln1464Glu)
c.4462C>G (p.Gln1488Glu)
3g.38555679G>TCA352144229SCN5Ac.4516C>A (p.Gln1506Lys)
c.4519C>A (p.Gln1507Lys)
c.4465C>A (p.Gln1489Lys)
c.4357C>A (p.Gln1453Lys)
c.4390C>A (p.Gln1464Lys)
c.4462C>A (p.Gln1488Lys)
3g.38555680G>ACA433135659SCN5Ac.4515C>T (p.Pro1505=)
c.4518C>T (p.Pro1506=)
c.4464C>T (p.Pro1488=)
c.4356C>T (p.Pro1452=)
c.4389C>T (p.Pro1463=)
c.4461C>T (p.Pro1487=)
3g.38555680G>CCA433135662SCN5Ac.4515C>G (p.Pro1505=)
c.4518C>G (p.Pro1506=)
c.4464C>G (p.Pro1488=)
c.4356C>G (p.Pro1452=)
c.4389C>G (p.Pro1463=)
c.4461C>G (p.Pro1487=)
3g.38555680G=CA1358562814SCN5Ac.4515C= (p.Pro1505=)
c.4518C= (p.Pro1506=)
c.4464C= (p.Pro1488=)
c.4356C= (p.Pro1452=)
c.4389C= (p.Pro1463=)
c.4461C= (p.Pro1487=)
3g.38555680G>TCA433135660SCN5Ac.4515C>A (p.Pro1505=)
c.4518C>A (p.Pro1506=)
c.4464C>A (p.Pro1488=)
c.4356C>A (p.Pro1452=)
c.4389C>A (p.Pro1463=)
c.4461C>A (p.Pro1487=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555681G>ACA063286SCN5Ac.4514C>T (p.Pro1505Leu)
c.4517C>T (p.Pro1506Leu)
c.4463C>T (p.Pro1488Leu)
c.4355C>T (p.Pro1452Leu)
c.4388C>T (p.Pro1463Leu)
c.4460C>T (p.Pro1487Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555681G>CCA352144231SCN5Ac.4514C>G (p.Pro1505Arg)
c.4517C>G (p.Pro1506Arg)
c.4463C>G (p.Pro1488Arg)
c.4355C>G (p.Pro1452Arg)
c.4388C>G (p.Pro1463Arg)
c.4460C>G (p.Pro1487Arg)
3g.38555681G=CA1358562819SCN5Ac.4514C= (p.Pro1505=)
c.4517C= (p.Pro1506=)
c.4463C= (p.Pro1488=)
c.4355C= (p.Pro1452=)
c.4388C= (p.Pro1463=)
c.4460C= (p.Pro1487=)
3g.38555681G>TCA352144230SCN5Ac.4514C>A (p.Pro1505His)
c.4517C>A (p.Pro1506His)
c.4463C>A (p.Pro1488His)
c.4355C>A (p.Pro1452His)
c.4388C>A (p.Pro1463His)
c.4460C>A (p.Pro1487His)
 ClinVar
3g.38555682G>ACA352144232SCN5Ac.4513C>T (p.Pro1505Ser)
c.4516C>T (p.Pro1506Ser)
c.4462C>T (p.Pro1488Ser)
c.4354C>T (p.Pro1452Ser)
c.4387C>T (p.Pro1463Ser)
c.4459C>T (p.Pro1487Ser)
 ClinVar dbSNP gnomAD v4
3g.38555682G>CCA352144234SCN5Ac.4513C>G (p.Pro1505Ala)
c.4516C>G (p.Pro1506Ala)
c.4462C>G (p.Pro1488Ala)
c.4354C>G (p.Pro1452Ala)
c.4387C>G (p.Pro1463Ala)
c.4459C>G (p.Pro1487Ala)
 ClinVar dbSNP
3g.38555682G=CA1358562826SCN5Ac.4513C= (p.Pro1505=)
c.4516C= (p.Pro1506=)
c.4462C= (p.Pro1488=)
c.4354C= (p.Pro1452=)
c.4387C= (p.Pro1463=)
c.4459C= (p.Pro1487=)
3g.38555682G>TCA352144233SCN5Ac.4513C>A (p.Pro1505Thr)
c.4516C>A (p.Pro1506Thr)
c.4462C>A (p.Pro1488Thr)
c.4354C>A (p.Pro1452Thr)
c.4387C>A (p.Pro1463Thr)
c.4459C>A (p.Pro1487Thr)
3g.38555689_38555703delCA2586965707SCN5Ac.4499_4513del (p.Leu1500_Lys1504del)
c.4502_4516del (p.Leu1501_Lys1505del)
c.4448_4462del (p.Leu1483_Lys1487del)
c.4340_4354del (p.Leu1447_Lys1451del)
c.4373_4387del (p.Leu1458_Lys1462del)
c.4445_4459del (p.Leu1482_Lys1486del)
3g.38555683C>ACA018404SCN5Ac.4512G>T (p.Lys1504Asn)
c.4515G>T (p.Lys1505Asn)
c.4461G>T (p.Lys1487Asn)
c.4353G>T (p.Lys1451Asn)
c.4386G>T (p.Lys1462Asn)
c.4458G>T (p.Lys1486Asn)
 ClinVar dbSNP
3g.38555683C=CA1358562831SCN5Ac.4512G= (p.Lys1504=)
c.4515G= (p.Lys1505=)
c.4461G= (p.Lys1487=)
c.4353G= (p.Lys1451=)
c.4386G= (p.Lys1462=)
c.4458G= (p.Lys1486=)
3g.38555683C>GCA352144235SCN5Ac.4512G>C (p.Lys1504Asn)
c.4515G>C (p.Lys1505Asn)
c.4461G>C (p.Lys1487Asn)
c.4353G>C (p.Lys1451Asn)
c.4386G>C (p.Lys1462Asn)
c.4458G>C (p.Lys1486Asn)
3g.38555683C>TCA433135670SCN5Ac.4512G>A (p.Lys1504=)
c.4515G>A (p.Lys1505=)
c.4461G>A (p.Lys1487=)
c.4353G>A (p.Lys1451=)
c.4386G>A (p.Lys1462=)
c.4458G>A (p.Lys1486=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38555684T>ACA352144236SCN5Ac.4511A>T (p.Lys1504Met)
c.4514A>T (p.Lys1505Met)
c.4460A>T (p.Lys1487Met)
c.4352A>T (p.Lys1451Met)
c.4385A>T (p.Lys1462Met)
c.4457A>T (p.Lys1486Met)
 dbSNP gnomAD v3 gnomAD v4
3g.38555684T>CCA352144237SCN5Ac.4511A>G (p.Lys1504Arg)
c.4514A>G (p.Lys1505Arg)
c.4460A>G (p.Lys1487Arg)
c.4352A>G (p.Lys1451Arg)
c.4385A>G (p.Lys1462Arg)
c.4457A>G (p.Lys1486Arg)
3g.38555684T>GCA352144238SCN5Ac.4511A>C (p.Lys1504Thr)
c.4514A>C (p.Lys1505Thr)
c.4460A>C (p.Lys1487Thr)
c.4352A>C (p.Lys1451Thr)
c.4385A>C (p.Lys1462Thr)
c.4457A>C (p.Lys1486Thr)
3g.38555684T=CA1358562836SCN5Ac.4511A= (p.Lys1504=)
c.4514A= (p.Lys1505=)
c.4460A= (p.Lys1487=)
c.4352A= (p.Lys1451=)
c.4385A= (p.Lys1462=)
c.4457A= (p.Lys1486=)
3g.38555685T>ACA352144239SCN5Ac.4510A>T (p.Lys1504Ter)
c.4513A>T (p.Lys1505Ter)
c.4459A>T (p.Lys1487Ter)
c.4351A>T (p.Lys1451Ter)
c.4384A>T (p.Lys1462Ter)
c.4456A>T (p.Lys1486Ter)
 dbSNP
3g.38555685T>CCA352144240SCN5Ac.4510A>G (p.Lys1504Glu)
c.4513A>G (p.Lys1505Glu)
c.4459A>G (p.Lys1487Glu)
c.4351A>G (p.Lys1451Glu)
c.4384A>G (p.Lys1462Glu)
c.4456A>G (p.Lys1486Glu)
3g.38555685T>GCA352144241SCN5Ac.4510A>C (p.Lys1504Gln)
c.4513A>C (p.Lys1505Gln)
c.4459A>C (p.Lys1487Gln)
c.4351A>C (p.Lys1451Gln)
c.4384A>C (p.Lys1462Gln)
c.4456A>C (p.Lys1486Gln)
 ClinVar dbSNP gnomAD v4
3g.38555685T=CA1358562839SCN5Ac.4510A= (p.Lys1504=)
c.4513A= (p.Lys1505=)
c.4459A= (p.Lys1487=)
c.4351A= (p.Lys1451=)
c.4384A= (p.Lys1462=)
c.4456A= (p.Lys1486=)
3g.38555686C>ACA018395SCN5Ac.4509G>T (p.Lys1503Asn)
c.4512G>T (p.Lys1504Asn)
c.4458G>T (p.Lys1486Asn)
c.4350G>T (p.Lys1450Asn)
c.4383G>T (p.Lys1461Asn)
c.4455G>T (p.Lys1485Asn)
 dbSNP
3g.38555686C=CA1358562845SCN5Ac.4509G= (p.Lys1503=)
c.4512G= (p.Lys1504=)
c.4458G= (p.Lys1486=)
c.4350G= (p.Lys1450=)
c.4383G= (p.Lys1461=)
c.4455G= (p.Lys1485=)
3g.38555686C>GCA352144242SCN5Ac.4509G>C (p.Lys1503Asn)
c.4512G>C (p.Lys1504Asn)
c.4458G>C (p.Lys1486Asn)
c.4350G>C (p.Lys1450Asn)
c.4383G>C (p.Lys1461Asn)
c.4455G>C (p.Lys1485Asn)
3g.38555686C>TCA063280SCN5Ac.4509G>A (p.Lys1503=)
c.4512G>A (p.Lys1504=)
c.4458G>A (p.Lys1486=)
c.4350G>A (p.Lys1450=)
c.4383G>A (p.Lys1461=)
c.4455G>A (p.Lys1485=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555687T>ACA352144243SCN5Ac.4508A>T (p.Lys1503Met)
c.4511A>T (p.Lys1504Met)
c.4457A>T (p.Lys1486Met)
c.4349A>T (p.Lys1450Met)
c.4382A>T (p.Lys1461Met)
c.4454A>T (p.Lys1485Met)
3g.38555687T>CCA352144244SCN5Ac.4508A>G (p.Lys1503Arg)
c.4511A>G (p.Lys1504Arg)
c.4457A>G (p.Lys1486Arg)
c.4349A>G (p.Lys1450Arg)
c.4382A>G (p.Lys1461Arg)
c.4454A>G (p.Lys1485Arg)
3g.38555687T>GCA352144245SCN5Ac.4508A>C (p.Lys1503Thr)
c.4511A>C (p.Lys1504Thr)
c.4457A>C (p.Lys1486Thr)
c.4349A>C (p.Lys1450Thr)
c.4382A>C (p.Lys1461Thr)
c.4454A>C (p.Lys1485Thr)
3g.38555688T>ACA352144246SCN5Ac.4507A>T (p.Lys1503Ter)
c.4510A>T (p.Lys1504Ter)
c.4456A>T (p.Lys1486Ter)
c.4348A>T (p.Lys1450Ter)
c.4381A>T (p.Lys1461Ter)
c.4453A>T (p.Lys1485Ter)
 dbSNP
3g.38555688T>CCA72943025SCN5Ac.4507A>G (p.Lys1503Glu)
c.4510A>G (p.Lys1504Glu)
c.4456A>G (p.Lys1486Glu)
c.4348A>G (p.Lys1450Glu)
c.4381A>G (p.Lys1461Glu)
c.4453A>G (p.Lys1485Glu)
 dbSNP
3g.38555688T>GCA352144247SCN5Ac.4507A>C (p.Lys1503Gln)
c.4510A>C (p.Lys1504Gln)
c.4456A>C (p.Lys1486Gln)
c.4348A>C (p.Lys1450Gln)
c.4381A>C (p.Lys1461Gln)
c.4453A>C (p.Lys1485Gln)
3g.38555688T=CA1358562851SCN5Ac.4507A= (p.Lys1503=)
c.4510A= (p.Lys1504=)
c.4456A= (p.Lys1486=)
c.4348A= (p.Lys1450=)
c.4381A= (p.Lys1461=)
c.4453A= (p.Lys1485=)
3g.38555689G>ACA018381SCN5Ac.4506C>T (p.Ser1502=)
c.4509C>T (p.Ser1503=)
c.4455C>T (p.Ser1485=)
c.4347C>T (p.Ser1449=)
c.4380C>T (p.Ser1460=)
c.4452C>T (p.Ser1484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555689G>CCA433135685SCN5Ac.4506C>G (p.Ser1502=)
c.4509C>G (p.Ser1503=)
c.4455C>G (p.Ser1485=)
c.4347C>G (p.Ser1449=)
c.4380C>G (p.Ser1460=)
c.4452C>G (p.Ser1484=)
3g.38555689G=CA1358562854SCN5Ac.4506C= (p.Ser1502=)
c.4509C= (p.Ser1503=)
c.4455C= (p.Ser1485=)
c.4347C= (p.Ser1449=)
c.4380C= (p.Ser1460=)
c.4452C= (p.Ser1484=)
3g.38555689G>TCA433135686SCN5Ac.4506C>A (p.Ser1502=)
c.4509C>A (p.Ser1503=)
c.4455C>A (p.Ser1485=)
c.4347C>A (p.Ser1449=)
c.4380C>A (p.Ser1460=)
c.4452C>A (p.Ser1484=)
3g.38555690G>ACA352144248SCN5Ac.4505C>T (p.Ser1502Phe)
c.4508C>T (p.Ser1503Phe)
c.4454C>T (p.Ser1485Phe)
c.4346C>T (p.Ser1449Phe)
c.4379C>T (p.Ser1460Phe)
c.4451C>T (p.Ser1484Phe)
3g.38555690G>CCA352144249SCN5Ac.4505C>G (p.Ser1502Cys)
c.4508C>G (p.Ser1503Cys)
c.4454C>G (p.Ser1485Cys)
c.4346C>G (p.Ser1449Cys)
c.4379C>G (p.Ser1460Cys)
c.4451C>G (p.Ser1484Cys)
3g.38555690G=CA1358562858SCN5Ac.4505C= (p.Ser1502=)
c.4508C= (p.Ser1503=)
c.4454C= (p.Ser1485=)
c.4346C= (p.Ser1449=)
c.4379C= (p.Ser1460=)
c.4451C= (p.Ser1484=)
3g.38555690G>TCA352144250SCN5Ac.4505C>A (p.Ser1502Tyr)
c.4508C>A (p.Ser1503Tyr)
c.4454C>A (p.Ser1485Tyr)
c.4346C>A (p.Ser1449Tyr)
c.4379C>A (p.Ser1460Tyr)
c.4451C>A (p.Ser1484Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.38555691A=CA1358562867SCN5Ac.4504T= (p.Ser1502=)
c.4507T= (p.Ser1503=)
c.4453T= (p.Ser1485=)
c.4345T= (p.Ser1449=)
c.4378T= (p.Ser1460=)
c.4450T= (p.Ser1484=)
3g.38555691A>CCA352144251SCN5Ac.4504T>G (p.Ser1502Ala)
c.4507T>G (p.Ser1503Ala)
c.4453T>G (p.Ser1485Ala)
c.4345T>G (p.Ser1449Ala)
c.4378T>G (p.Ser1460Ala)
c.4450T>G (p.Ser1484Ala)
3g.38555691A>GCA018376SCN5Ac.4504T>C (p.Ser1502Pro)
c.4507T>C (p.Ser1503Pro)
c.4453T>C (p.Ser1485Pro)
c.4345T>C (p.Ser1449Pro)
c.4378T>C (p.Ser1460Pro)
c.4450T>C (p.Ser1484Pro)
 ClinVar dbSNP
3g.38555691A>TCA352144252SCN5Ac.4504T>A (p.Ser1502Thr)
c.4507T>A (p.Ser1503Thr)
c.4453T>A (p.Ser1485Thr)
c.4345T>A (p.Ser1449Thr)
c.4378T>A (p.Ser1460Thr)
c.4450T>A (p.Ser1484Thr)
3g.38555692G>ACA433135692SCN5Ac.4503C>T (p.Gly1501=)
c.4506C>T (p.Gly1502=)
c.4452C>T (p.Gly1484=)
c.4344C>T (p.Gly1448=)
c.4377C>T (p.Gly1459=)
c.4449C>T (p.Gly1483=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38555692G>CCA433135694SCN5Ac.4503C>G (p.Gly1501=)
c.4506C>G (p.Gly1502=)
c.4452C>G (p.Gly1484=)
c.4344C>G (p.Gly1448=)
c.4377C>G (p.Gly1459=)
c.4449C>G (p.Gly1483=)
3g.38555692G=CA1358562870SCN5Ac.4503C= (p.Gly1501=)
c.4506C= (p.Gly1502=)
c.4452C= (p.Gly1484=)
c.4344C= (p.Gly1448=)
c.4377C= (p.Gly1459=)
c.4449C= (p.Gly1483=)
3g.38555692G>TCA433135695SCN5Ac.4503C>A (p.Gly1501=)
c.4506C>A (p.Gly1502=)
c.4452C>A (p.Gly1484=)
c.4344C>A (p.Gly1448=)
c.4377C>A (p.Gly1459=)
c.4449C>A (p.Gly1483=)
 dbSNP gnomAD v3 gnomAD v4
3g.38555693C>ACA352144253SCN5Ac.4502G>T (p.Gly1501Val)
c.4505G>T (p.Gly1502Val)
c.4451G>T (p.Gly1484Val)
c.4343G>T (p.Gly1448Val)
c.4376G>T (p.Gly1459Val)
c.4448G>T (p.Gly1483Val)
 gnomAD v4
3g.38555693C=CA1358562876SCN5Ac.4502G= (p.Gly1501=)
c.4505G= (p.Gly1502=)
c.4451G= (p.Gly1484=)
c.4343G= (p.Gly1448=)
c.4376G= (p.Gly1459=)
c.4448G= (p.Gly1483=)
3g.38555693C>GCA352144254SCN5Ac.4502G>C (p.Gly1501Ala)
c.4505G>C (p.Gly1502Ala)
c.4451G>C (p.Gly1484Ala)
c.4343G>C (p.Gly1448Ala)
c.4376G>C (p.Gly1459Ala)
c.4448G>C (p.Gly1483Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38555693C>TCA352144255SCN5Ac.4502G>A (p.Gly1501Asp)
c.4505G>A (p.Gly1502Asp)
c.4451G>A (p.Gly1484Asp)
c.4343G>A (p.Gly1448Asp)
c.4376G>A (p.Gly1459Asp)
c.4448G>A (p.Gly1483Asp)
 ClinVar dbSNP
3g.38555694C>ACA352144256SCN5Ac.4501G>T (p.Gly1501Cys)
c.4504G>T (p.Gly1502Cys)
c.4450G>T (p.Gly1484Cys)
c.4342G>T (p.Gly1448Cys)
c.4375G>T (p.Gly1459Cys)
c.4447G>T (p.Gly1483Cys)
3g.38555694C=CA1358562881SCN5Ac.4501G= (p.Gly1501=)
c.4504G= (p.Gly1502=)
c.4450G= (p.Gly1484=)
c.4342G= (p.Gly1448=)
c.4375G= (p.Gly1459=)
c.4447G= (p.Gly1483=)
3g.38555694C>GCA352144257SCN5Ac.4501G>C (p.Gly1501Arg)
c.4504G>C (p.Gly1502Arg)
c.4450G>C (p.Gly1484Arg)
c.4342G>C (p.Gly1448Arg)
c.4375G>C (p.Gly1459Arg)
c.4447G>C (p.Gly1483Arg)
3g.38555694C>TCA018370SCN5Ac.4501G>A (p.Gly1501Ser)
c.4504G>A (p.Gly1502Ser)
c.4450G>A (p.Gly1484Ser)
c.4342G>A (p.Gly1448Ser)
c.4375G>A (p.Gly1459Ser)
c.4447G>A (p.Gly1483Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38555695C>ACA433135701SCN5Ac.4500G>T (p.Leu1500=)
c.4503G>T (p.Leu1501=)
c.4449G>T (p.Leu1483=)
c.4341G>T (p.Leu1447=)
c.4374G>T (p.Leu1458=)
c.4446G>T (p.Leu1482=)
 ClinVar dbSNP
3g.38555695C=CA1358562883SCN5Ac.4500G= (p.Leu1500=)
c.4503G= (p.Leu1501=)
c.4449G= (p.Leu1483=)
c.4341G= (p.Leu1447=)
c.4374G= (p.Leu1458=)
c.4446G= (p.Leu1482=)
3g.38555695C>GCA433135703SCN5Ac.4500G>C (p.Leu1500=)
c.4503G>C (p.Leu1501=)
c.4449G>C (p.Leu1483=)
c.4341G>C (p.Leu1447=)
c.4374G>C (p.Leu1458=)
c.4446G>C (p.Leu1482=)
3g.38555695C>TCA063263SCN5Ac.4500G>A (p.Leu1500=)
c.4503G>A (p.Leu1501=)
c.4449G>A (p.Leu1483=)
c.4341G>A (p.Leu1447=)
c.4374G>A (p.Leu1458=)
c.4446G>A (p.Leu1482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555696A=CA1358562887SCN5Ac.4499T= (p.Leu1500=)
c.4502T= (p.Leu1501=)
c.4448T= (p.Leu1483=)
c.4340T= (p.Leu1447=)
c.4373T= (p.Leu1458=)
c.4445T= (p.Leu1482=)
3g.38555696A>CCA352144258SCN5Ac.4499T>G (p.Leu1500Arg)
c.4502T>G (p.Leu1501Arg)
c.4448T>G (p.Leu1483Arg)
c.4340T>G (p.Leu1447Arg)
c.4373T>G (p.Leu1458Arg)
c.4445T>G (p.Leu1482Arg)
3g.38555696A>GCA16611376SCN5Ac.4499T>C (p.Leu1500Pro)
c.4502T>C (p.Leu1501Pro)
c.4448T>C (p.Leu1483Pro)
c.4340T>C (p.Leu1447Pro)
c.4373T>C (p.Leu1458Pro)
c.4445T>C (p.Leu1482Pro)
 ClinVar dbSNP
3g.38555696A>TCA352144259SCN5Ac.4499T>A (p.Leu1500Gln)
c.4502T>A (p.Leu1501Gln)
c.4448T>A (p.Leu1483Gln)
c.4340T>A (p.Leu1447Gln)
c.4373T>A (p.Leu1458Gln)
c.4445T>A (p.Leu1482Gln)
3g.38555697G>ACA433135707SCN5Ac.4498C>T (p.Leu1500=)
c.4501C>T (p.Leu1501=)
c.4447C>T (p.Leu1483=)
c.4339C>T (p.Leu1447=)
c.4372C>T (p.Leu1458=)
c.4444C>T (p.Leu1482=)
 COSMIC COSMIC COSMIC
3g.38555697G>CCA018357SCN5Ac.4498C>G (p.Leu1500Val)
c.4501C>G (p.Leu1501Val)
c.4447C>G (p.Leu1483Val)
c.4339C>G (p.Leu1447Val)
c.4372C>G (p.Leu1458Val)
c.4444C>G (p.Leu1482Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555697G=CA1358562893SCN5Ac.4498C= (p.Leu1500=)
c.4501C= (p.Leu1501=)
c.4447C= (p.Leu1483=)
c.4339C= (p.Leu1447=)
c.4372C= (p.Leu1458=)
c.4444C= (p.Leu1482=)
3g.38555697G>TCA352144260SCN5Ac.4498C>A (p.Leu1500Met)
c.4501C>A (p.Leu1501Met)
c.4447C>A (p.Leu1483Met)
c.4339C>A (p.Leu1447Met)
c.4372C>A (p.Leu1458Met)
c.4444C>A (p.Leu1482Met)
3g.38555698C>ACA018351SCN5Ac.4497G>T (p.Lys1499Asn)
c.4500G>T (p.Lys1500Asn)
c.4446G>T (p.Lys1482Asn)
c.4338G>T (p.Lys1446Asn)
c.4371G>T (p.Lys1457Asn)
c.4443G>T (p.Lys1481Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38555698C=CA1358562901SCN5Ac.4497G= (p.Lys1499=)
c.4500G= (p.Lys1500=)
c.4446G= (p.Lys1482=)
c.4338G= (p.Lys1446=)
c.4371G= (p.Lys1457=)
c.4443G= (p.Lys1481=)
3g.38555698C>GCA352144261SCN5Ac.4497G>C (p.Lys1499Asn)
c.4500G>C (p.Lys1500Asn)
c.4446G>C (p.Lys1482Asn)
c.4338G>C (p.Lys1446Asn)
c.4371G>C (p.Lys1457Asn)
c.4443G>C (p.Lys1481Asn)
3g.38555698C>TCA433135712SCN5Ac.4497G>A (p.Lys1499=)
c.4500G>A (p.Lys1500=)
c.4446G>A (p.Lys1482=)
c.4338G>A (p.Lys1446=)
c.4371G>A (p.Lys1457=)
c.4443G>A (p.Lys1481=)
 ClinVar dbSNP gnomAD v4
3g.38555702_38555704delCA2580614210SCN5Ac.4495_4497del (p.Lys1499del)
c.4498_4500del (p.Lys1500del)
c.4444_4446del (p.Lys1482del)
c.4336_4338del (p.Lys1446del)
c.4369_4371del (p.Lys1457del)
c.4441_4443del (p.Lys1481del)
 ClinVar dbSNP
3g.38555699T>ACA352144262SCN5Ac.4496A>T (p.Lys1499Met)
c.4499A>T (p.Lys1500Met)
c.4445A>T (p.Lys1482Met)
c.4337A>T (p.Lys1446Met)
c.4370A>T (p.Lys1457Met)
c.4442A>T (p.Lys1481Met)
3g.38555699T>CCA352144263SCN5Ac.4496A>G (p.Lys1499Arg)
c.4499A>G (p.Lys1500Arg)
c.4445A>G (p.Lys1482Arg)
c.4337A>G (p.Lys1446Arg)
c.4370A>G (p.Lys1457Arg)
c.4442A>G (p.Lys1481Arg)
3g.38555699T>GCA352144264SCN5Ac.4496A>C (p.Lys1499Thr)
c.4499A>C (p.Lys1500Thr)
c.4445A>C (p.Lys1482Thr)
c.4337A>C (p.Lys1446Thr)
c.4370A>C (p.Lys1457Thr)
c.4442A>C (p.Lys1481Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38555700T>ACA352144265SCN5Ac.4495A>T (p.Lys1499Ter)
c.4498A>T (p.Lys1500Ter)
c.4444A>T (p.Lys1482Ter)
c.4336A>T (p.Lys1446Ter)
c.4369A>T (p.Lys1457Ter)
c.4441A>T (p.Lys1481Ter)
3g.38555700T>CCA352144266SCN5Ac.4495A>G (p.Lys1499Glu)
c.4498A>G (p.Lys1500Glu)
c.4444A>G (p.Lys1482Glu)
c.4336A>G (p.Lys1446Glu)
c.4369A>G (p.Lys1457Glu)
c.4441A>G (p.Lys1481Glu)
3g.38555700T>GCA352144267SCN5Ac.4495A>C (p.Lys1499Gln)
c.4498A>C (p.Lys1500Gln)
c.4444A>C (p.Lys1482Gln)
c.4336A>C (p.Lys1446Gln)
c.4369A>C (p.Lys1457Gln)
c.4441A>C (p.Lys1481Gln)
3g.38555701C>ACA16617944SCN5Ac.4494G>T (p.Lys1498Asn)
c.4497G>T (p.Lys1499Asn)
c.4443G>T (p.Lys1481Asn)
c.4335G>T (p.Lys1445Asn)
c.4368G>T (p.Lys1456Asn)
c.4440G>T (p.Lys1480Asn)
 ClinVar dbSNP
3g.38555701C=CA1358562909SCN5Ac.4494G= (p.Lys1498=)
c.4497G= (p.Lys1499=)
c.4443G= (p.Lys1481=)
c.4335G= (p.Lys1445=)
c.4368G= (p.Lys1456=)
c.4440G= (p.Lys1480=)
3g.38555701C>GCA352144268SCN5Ac.4494G>C (p.Lys1498Asn)
c.4497G>C (p.Lys1499Asn)
c.4443G>C (p.Lys1481Asn)
c.4335G>C (p.Lys1445Asn)
c.4368G>C (p.Lys1456Asn)
c.4440G>C (p.Lys1480Asn)
3g.38555701C>TCA433135719SCN5Ac.4494G>A (p.Lys1498=)
c.4497G>A (p.Lys1499=)
c.4443G>A (p.Lys1481=)
c.4335G>A (p.Lys1445=)
c.4368G>A (p.Lys1456=)
c.4440G>A (p.Lys1480=)
 ClinVar COSMIC COSMIC COSMIC
3g.38555702T>ACA352144269SCN5Ac.4493A>T (p.Lys1498Met)
c.4496A>T (p.Lys1499Met)
c.4442A>T (p.Lys1481Met)
c.4334A>T (p.Lys1445Met)
c.4367A>T (p.Lys1456Met)
c.4439A>T (p.Lys1480Met)
3g.38555702T>CCA352144270SCN5Ac.4493A>G (p.Lys1498Arg)
c.4496A>G (p.Lys1499Arg)
c.4442A>G (p.Lys1481Arg)
c.4334A>G (p.Lys1445Arg)
c.4367A>G (p.Lys1456Arg)
c.4439A>G (p.Lys1480Arg)
3g.38555702T>GCA352144271SCN5Ac.4493A>C (p.Lys1498Thr)
c.4496A>C (p.Lys1499Thr)
c.4442A>C (p.Lys1481Thr)
c.4334A>C (p.Lys1445Thr)
c.4367A>C (p.Lys1456Thr)
c.4439A>C (p.Lys1480Thr)
3g.38555703T>ACA352144272SCN5Ac.4492A>T (p.Lys1498Ter)
c.4495A>T (p.Lys1499Ter)
c.4441A>T (p.Lys1481Ter)
c.4333A>T (p.Lys1445Ter)
c.4366A>T (p.Lys1456Ter)
c.4438A>T (p.Lys1480Ter)
3g.38555703T>CCA352144273SCN5Ac.4492A>G (p.Lys1498Glu)
c.4495A>G (p.Lys1499Glu)
c.4441A>G (p.Lys1481Glu)
c.4333A>G (p.Lys1445Glu)
c.4366A>G (p.Lys1456Glu)
c.4438A>G (p.Lys1480Glu)
3g.38555703T>GCA352144274SCN5Ac.4492A>C (p.Lys1498Gln)
c.4495A>C (p.Lys1499Gln)
c.4441A>C (p.Lys1481Gln)
c.4333A>C (p.Lys1445Gln)
c.4366A>C (p.Lys1456Gln)
c.4438A>C (p.Lys1480Gln)
3g.38555704C>ACA352144275SCN5Ac.4491G>T (p.Met1497Ile)
c.4494G>T (p.Met1498Ile)
c.4440G>T (p.Met1480Ile)
c.4332G>T (p.Met1444Ile)
c.4365G>T (p.Met1455Ile)
c.4437G>T (p.Met1479Ile)
3g.38555704C>GCA352144276SCN5Ac.4491G>C (p.Met1497Ile)
c.4494G>C (p.Met1498Ile)
c.4440G>C (p.Met1480Ile)
c.4332G>C (p.Met1444Ile)
c.4365G>C (p.Met1455Ile)
c.4437G>C (p.Met1479Ile)
3g.38555704C>TCA352144277SCN5Ac.4491G>A (p.Met1497Ile)
c.4494G>A (p.Met1498Ile)
c.4440G>A (p.Met1480Ile)
c.4332G>A (p.Met1444Ile)
c.4365G>A (p.Met1455Ile)
c.4437G>A (p.Met1479Ile)
3g.38555705A=CA1358562917SCN5Ac.4490T= (p.Met1497=)
c.4493T= (p.Met1498=)
c.4439T= (p.Met1480=)
c.4331T= (p.Met1444=)
c.4364T= (p.Met1455=)
c.4436T= (p.Met1479=)
3g.38555705A>CCA352144278SCN5Ac.4490T>G (p.Met1497Arg)
c.4493T>G (p.Met1498Arg)
c.4439T>G (p.Met1480Arg)
c.4331T>G (p.Met1444Arg)
c.4364T>G (p.Met1455Arg)
c.4436T>G (p.Met1479Arg)
3g.38555705A>GCA018346SCN5Ac.4490T>C (p.Met1497Thr)
c.4493T>C (p.Met1498Thr)
c.4439T>C (p.Met1480Thr)
c.4331T>C (p.Met1444Thr)
c.4364T>C (p.Met1455Thr)
c.4436T>C (p.Met1479Thr)
 ClinVar dbSNP
3g.38555705A>TCA352144279SCN5Ac.4490T>A (p.Met1497Lys)
c.4493T>A (p.Met1498Lys)
c.4439T>A (p.Met1480Lys)
c.4331T>A (p.Met1444Lys)
c.4364T>A (p.Met1455Lys)
c.4436T>A (p.Met1479Lys)
3g.38555706T>ACA352144281SCN5Ac.4489A>T (p.Met1497Leu)
c.4492A>T (p.Met1498Leu)
c.4438A>T (p.Met1480Leu)
c.4330A>T (p.Met1444Leu)
c.4363A>T (p.Met1455Leu)
c.4435A>T (p.Met1479Leu)
3g.38555706T>CCA018339SCN5Ac.4489A>G (p.Met1497Val)
c.4492A>G (p.Met1498Val)
c.4438A>G (p.Met1480Val)
c.4330A>G (p.Met1444Val)
c.4363A>G (p.Met1455Val)
c.4435A>G (p.Met1479Val)
 ClinVar dbSNP gnomAD v4
3g.38555706T>GCA352144280SCN5Ac.4489A>C (p.Met1497Leu)
c.4492A>C (p.Met1498Leu)
c.4438A>C (p.Met1480Leu)
c.4330A>C (p.Met1444Leu)
c.4363A>C (p.Met1455Leu)
c.4435A>C (p.Met1479Leu)
3g.38555706T=CA1358562922SCN5Ac.4489A= (p.Met1497=)
c.4492A= (p.Met1498=)
c.4438A= (p.Met1480=)
c.4330A= (p.Met1444=)
c.4363A= (p.Met1455=)
c.4435A= (p.Met1479=)
3g.38555707G>ACA433135735SCN5Ac.4488C>T (p.Ala1496=)
c.4491C>T (p.Ala1497=)
c.4437C>T (p.Ala1479=)
c.4329C>T (p.Ala1443=)
c.4362C>T (p.Ala1454=)
c.4434C>T (p.Ala1478=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38555707G>CCA433135737SCN5Ac.4488C>G (p.Ala1496=)
c.4491C>G (p.Ala1497=)
c.4437C>G (p.Ala1479=)
c.4329C>G (p.Ala1443=)
c.4362C>G (p.Ala1454=)
c.4434C>G (p.Ala1478=)
3g.38555707G=CA1358562926SCN5Ac.4488C= (p.Ala1496=)
c.4491C= (p.Ala1497=)
c.4437C= (p.Ala1479=)
c.4329C= (p.Ala1443=)
c.4362C= (p.Ala1454=)
c.4434C= (p.Ala1478=)
3g.38555707G>TCA433135736SCN5Ac.4488C>A (p.Ala1496=)
c.4491C>A (p.Ala1497=)
c.4437C>A (p.Ala1479=)
c.4329C>A (p.Ala1443=)
c.4362C>A (p.Ala1454=)
c.4434C>A (p.Ala1478=)
3g.38555708G>ACA352144282SCN5Ac.4487C>T (p.Ala1496Val)
c.4490C>T (p.Ala1497Val)
c.4436C>T (p.Ala1479Val)
c.4328C>T (p.Ala1443Val)
c.4361C>T (p.Ala1454Val)
c.4433C>T (p.Ala1478Val)
3g.38555708G>CCA352144283SCN5Ac.4487C>G (p.Ala1496Gly)
c.4490C>G (p.Ala1497Gly)
c.4436C>G (p.Ala1479Gly)
c.4328C>G (p.Ala1443Gly)
c.4361C>G (p.Ala1454Gly)
c.4433C>G (p.Ala1478Gly)
3g.38555708G>TCA352144284SCN5Ac.4487C>A (p.Ala1496Asp)
c.4490C>A (p.Ala1497Asp)
c.4436C>A (p.Ala1479Asp)
c.4328C>A (p.Ala1443Asp)
c.4361C>A (p.Ala1454Asp)
c.4433C>A (p.Ala1478Asp)
3g.38555709C>ACA352144285SCN5Ac.4486G>T (p.Ala1496Ser)
c.4489G>T (p.Ala1497Ser)
c.4435G>T (p.Ala1479Ser)
c.4327G>T (p.Ala1443Ser)
c.4360G>T (p.Ala1454Ser)
c.4432G>T (p.Ala1478Ser)
3g.38555709C=CA1358562927SCN5Ac.4486G= (p.Ala1496=)
c.4489G= (p.Ala1497=)
c.4435G= (p.Ala1479=)
c.4327G= (p.Ala1443=)
c.4360G= (p.Ala1454=)
c.4432G= (p.Ala1478=)
3g.38555709C>GCA352144286SCN5Ac.4486G>C (p.Ala1496Pro)
c.4489G>C (p.Ala1497Pro)
c.4435G>C (p.Ala1479Pro)
c.4327G>C (p.Ala1443Pro)
c.4360G>C (p.Ala1454Pro)
c.4432G>C (p.Ala1478Pro)
 ClinVar
3g.38555709C>TCA352144287SCN5Ac.4486G>A (p.Ala1496Thr)
c.4489G>A (p.Ala1497Thr)
c.4435G>A (p.Ala1479Thr)
c.4327G>A (p.Ala1443Thr)
c.4360G>A (p.Ala1454Thr)
c.4432G>A (p.Ala1478Thr)
 dbSNP
3g.38555710A>CCA352144288SCN5Ac.4485T>G (p.Asn1495Lys)
c.4488T>G (p.Asn1496Lys)
c.4434T>G (p.Asn1478Lys)
c.4326T>G (p.Asn1442Lys)
c.4359T>G (p.Asn1453Lys)
c.4431T>G (p.Asn1477Lys)
3g.38555710A>GCA433135743SCN5Ac.4485T>C (p.Asn1495=)
c.4488T>C (p.Asn1496=)
c.4434T>C (p.Asn1478=)
c.4326T>C (p.Asn1442=)
c.4359T>C (p.Asn1453=)
c.4431T>C (p.Asn1477=)
 gnomAD v4
3g.38555710A>TCA352144289SCN5Ac.4485T>A (p.Asn1495Lys)
c.4488T>A (p.Asn1496Lys)
c.4434T>A (p.Asn1478Lys)
c.4326T>A (p.Asn1442Lys)
c.4359T>A (p.Asn1453Lys)
c.4431T>A (p.Asn1477Lys)
3g.38555711T>ACA352144290SCN5Ac.4484A>T (p.Asn1495Ile)
c.4487A>T (p.Asn1496Ile)
c.4433A>T (p.Asn1478Ile)
c.4325A>T (p.Asn1442Ile)
c.4358A>T (p.Asn1453Ile)
c.4430A>T (p.Asn1477Ile)
3g.38555711T>CCA352144291SCN5Ac.4484A>G (p.Asn1495Ser)
c.4487A>G (p.Asn1496Ser)
c.4433A>G (p.Asn1478Ser)
c.4325A>G (p.Asn1442Ser)
c.4358A>G (p.Asn1453Ser)
c.4430A>G (p.Asn1477Ser)
3g.38555711T>GCA352144292SCN5Ac.4484A>C (p.Asn1495Thr)
c.4487A>C (p.Asn1496Thr)
c.4433A>C (p.Asn1478Thr)
c.4325A>C (p.Asn1442Thr)
c.4358A>C (p.Asn1453Thr)
c.4430A>C (p.Asn1477Thr)
3g.38555712T>ACA352144293SCN5Ac.4483A>T (p.Asn1495Tyr)
c.4486A>T (p.Asn1496Tyr)
c.4432A>T (p.Asn1478Tyr)
c.4324A>T (p.Asn1442Tyr)
c.4357A>T (p.Asn1453Tyr)
c.4429A>T (p.Asn1477Tyr)
3g.38555712T>CCA72943048SCN5Ac.4483A>G (p.Asn1495Asp)
c.4486A>G (p.Asn1496Asp)
c.4432A>G (p.Asn1478Asp)
c.4324A>G (p.Asn1442Asp)
c.4357A>G (p.Asn1453Asp)
c.4429A>G (p.Asn1477Asp)
 dbSNP
3g.38555712T>GCA352144294SCN5Ac.4483A>C (p.Asn1495His)
c.4486A>C (p.Asn1496His)
c.4432A>C (p.Asn1478His)
c.4324A>C (p.Asn1442His)
c.4357A>C (p.Asn1453His)
c.4429A>C (p.Asn1477His)
3g.38555712T=CA1358562929SCN5Ac.4483A= (p.Asn1495=)
c.4486A= (p.Asn1496=)
c.4432A= (p.Asn1478=)
c.4324A= (p.Asn1442=)
c.4357A= (p.Asn1453=)
c.4429A= (p.Asn1477=)
3g.38555713G>ACA433135750SCN5Ac.4482C>T (p.Tyr1494=)
c.4485C>T (p.Tyr1495=)
c.4431C>T (p.Tyr1477=)
c.4323C>T (p.Tyr1441=)
c.4356C>T (p.Tyr1452=)
c.4428C>T (p.Tyr1476=)
 ClinVar gnomAD v4
3g.38555713G>CCA352144297SCN5Ac.4482C>G (p.Tyr1494Ter)
c.4485C>G (p.Tyr1495Ter)
c.4431C>G (p.Tyr1477Ter)
c.4323C>G (p.Tyr1441Ter)
c.4356C>G (p.Tyr1452Ter)
c.4428C>G (p.Tyr1476Ter)
3g.38555713G>TCA352144295SCN5Ac.4482C>A (p.Tyr1494Ter)
c.4485C>A (p.Tyr1495Ter)
c.4431C>A (p.Tyr1477Ter)
c.4323C>A (p.Tyr1441Ter)
c.4356C>A (p.Tyr1452Ter)
c.4428C>A (p.Tyr1476Ter)
3g.38555714T>ACA352144299SCN5Ac.4481A>T (p.Tyr1494Phe)
c.4484A>T (p.Tyr1495Phe)
c.4430A>T (p.Tyr1477Phe)
c.4322A>T (p.Tyr1441Phe)
c.4355A>T (p.Tyr1452Phe)
c.4427A>T (p.Tyr1476Phe)
3g.38555714T>CCA72943054SCN5Ac.4481A>G (p.Tyr1494Cys)
c.4484A>G (p.Tyr1495Cys)
c.4430A>G (p.Tyr1477Cys)
c.4322A>G (p.Tyr1441Cys)
c.4355A>G (p.Tyr1452Cys)
c.4427A>G (p.Tyr1476Cys)
 ClinVar dbSNP
3g.38555714T>GCA018330SCN5Ac.4481A>C (p.Tyr1494Ser)
c.4484A>C (p.Tyr1495Ser)
c.4430A>C (p.Tyr1477Ser)
c.4322A>C (p.Tyr1441Ser)
c.4355A>C (p.Tyr1452Ser)
c.4427A>C (p.Tyr1476Ser)
 ClinVar dbSNP
3g.38555714T=CA1358562935SCN5Ac.4481A= (p.Tyr1494=)
c.4484A= (p.Tyr1495=)
c.4430A= (p.Tyr1477=)
c.4322A= (p.Tyr1441=)
c.4355A= (p.Tyr1452=)
c.4427A= (p.Tyr1476=)
3g.38555715A>CCA352144300SCN5Ac.4480T>G (p.Tyr1494Asp)
c.4483T>G (p.Tyr1495Asp)
c.4429T>G (p.Tyr1477Asp)
c.4321T>G (p.Tyr1441Asp)
c.4354T>G (p.Tyr1452Asp)
c.4426T>G (p.Tyr1476Asp)
3g.38555715A>GCA352144301SCN5Ac.4480T>C (p.Tyr1494His)
c.4483T>C (p.Tyr1495His)
c.4429T>C (p.Tyr1477His)
c.4321T>C (p.Tyr1441His)
c.4354T>C (p.Tyr1452His)
c.4426T>C (p.Tyr1476His)
3g.38555715A>TCA352144302SCN5Ac.4480T>A (p.Tyr1494Asn)
c.4483T>A (p.Tyr1495Asn)
c.4429T>A (p.Tyr1477Asn)
c.4321T>A (p.Tyr1441Asn)
c.4354T>A (p.Tyr1452Asn)
c.4426T>A (p.Tyr1476Asn)

Number of alleles fetched