Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38555618A= | CA1358562721 | SCN5A | c.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=) | |
3 | g.38555618A>G | CA063349 | SCN5A | c.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 |
3 | g.38555618A>T | CA2831277117 | SCN5A | c.4539+38T>A (n.4539+38T>A) c.4542+38T>A (n.4542+38T>A) c.4488+38T>A (n.4488+38T>A) c.4380+38T>A (n.4380+38T>A) c.4413+38T>A (n.4413+38T>A) c.4485+38T>A (n.4485+38T>A) | |
3 | g.38555621C>A | CA1046992502 | SCN5A | c.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 |
3 | g.38555621C= | CA1358562723 | SCN5A | c.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=) | |
3 | g.38555621C>T | CA2665110704 | SCN5A | c.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 |
3 | g.38555626dup | CA2840067947 | SCN5A | c.4539+33dup (n.4539+33dup) c.4542+33dup (n.4542+33dup) c.4488+33dup (n.4488+33dup) c.4380+33dup (n.4380+33dup) c.4413+33dup (n.4413+33dup) c.4485+33dup (n.4485+33dup) | |
3 | g.38555626del | CA2665110705 | SCN5A | c.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 |
3 | g.38555624C>T | CA2665110706 | SCN5A | c.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 |
3 | g.38555625C>A | CA2665110707 | SCN5A | c.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 |
3 | g.38555626C>T | CA2665110708 | SCN5A | c.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 |
3 | g.38555627A= | CA1358562725 | SCN5A | c.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=) | |
3 | g.38555627A>C | CA1046992504 | SCN5A | c.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 |
3 | g.38555627A>G | CA542269995 | SCN5A | c.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 |
3 | g.38555631C>G | CA2755901305 | SCN5A | c.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) | |
3 | g.38555632C>A | CA2553518246 | SCN5A | c.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) | |
3 | g.38555632C= | CA1358562727 | SCN5A | c.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=) | |
3 | g.38555632C>T | CA906912690 | SCN5A | c.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 |
3 | g.38555633A= | CA1358562729 | SCN5A | c.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=) | |
3 | g.38555633A>G | CA063342 | SCN5A | c.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 |
3 | g.38555634C= | CA1358562730 | SCN5A | c.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=) | |
3 | g.38555634C>T | CA063338 | SCN5A | c.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 |
3 | g.38555636A= | CA1358562732 | SCN5A | c.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=) | |
3 | g.38555636A>G | CA063333 | SCN5A | c.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 |
3 | g.38555637A>C | CA2665110709 | SCN5A | c.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 |
3 | g.38555639C>T | CA647831724 | SCN5A | c.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 |
3 | g.38555640C= | CA1358562735 | SCN5A | c.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=) | |
3 | g.38555640C>G | CA2501976051 | SCN5A | c.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 |
3 | g.38555640C>T | CA542269996 | SCN5A | c.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 |
3 | g.38555641A>G | CA2577553307 | SCN5A | c.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 |
3 | g.38555642G>A | CA2665110710 | SCN5A | c.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 |
3 | g.38555643G>C | CA2665110711 | SCN5A | c.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 |
3 | g.38555643G= | CA1358562737 | SCN5A | c.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=) | |
3 | g.38555643G>T | CA542269997 | SCN5A | c.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 |
3 | g.38555644A>G | CA647831726 | SCN5A | c.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 |
3 | g.38555645G>A | CA2665110712 | SCN5A | c.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 |
3 | g.38555646C= | CA1358562739 | SCN5A | c.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=) | |
3 | g.38555646C>T | CA72942964 | SCN5A | c.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 |
3 | g.38555647C>A | CA1358562743 | SCN5A | c.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 |
3 | g.38555647C= | CA1358562741 | SCN5A | c.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=) | |
3 | g.38555647C>T | CA2739278196 | SCN5A | c.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 |
3 | g.38555648T>C | CA2573136300 | SCN5A | c.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 |
3 | g.38555650G>A | CA2665110713 | SCN5A | c.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 |
3 | g.38555650G>C | CA1139657971 | SCN5A | c.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 |
3 | g.38555650G= | CA1358562747 | SCN5A | c.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=) | |
3 | g.38555652T>C | CA542269998 | SCN5A | c.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 |
3 | g.38555652T= | CA1358562750 | SCN5A | c.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=) | |
3 | g.38555653C>A | CA2665110714 | SCN5A | c.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 |
3 | g.38555654A>C | CA352144179 | SCN5A | c.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) | |
3 | g.38555654A>G | CA352144178 | SCN5A | c.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) | |
3 | g.38555654A>T | CA352144177 | SCN5A | c.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) | |
3 | g.38555655C>A | CA352144180 | SCN5A | c.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) | |
3 | g.38555655C= | CA1358562753 | SCN5A | c.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=) | |
3 | g.38555655C>G | CA352144182 | SCN5A | c.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) | |
3 | g.38555655C>T | CA352144181 | SCN5A | c.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 |
3 | g.38555656C>A | CA433135577 | SCN5A | c.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=) | |
3 | g.38555656C= | CA1358562755 | SCN5A | c.4539G= (p.Leu1513=) c.4542G= (p.Leu1514=) c.4488G= (p.Leu1496=) c.4380G= (p.Leu1460=) c.4413G= (p.Leu1471=) c.4485G= (p.Leu1495=) | |
3 | g.38555656C>G | CA063354 | SCN5A | c.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 |
3 | g.38555656C>T | CA433135580 | SCN5A | c.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=) | |
3 | g.38555657A>C | CA352144183 | SCN5A | c.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) | |
3 | g.38555657A>G | CA352144184 | SCN5A | c.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) | |
3 | g.38555657A>T | CA352144185 | SCN5A | c.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) | |
3 | g.38555657dup | CA2580069805 | SCN5A | c.4538dup (p.Asn1514GlufsTer17) c.4541dup (p.Asn1515GlufsTer17) c.4487dup (p.Asn1497GlufsTer17) c.4379dup (p.Asn1461GlufsTer17) c.4412dup (p.Asn1472GlufsTer17) c.4484dup (p.Asn1496GlufsTer17) | ClinVar |
3 | g.38555658G>A | CA433135583 | SCN5A | c.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=) | |
3 | g.38555658G>C | CA352144186 | SCN5A | c.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) | |
3 | g.38555658G= | CA1358562758 | SCN5A | c.4537C= (p.Leu1513=) c.4540C= (p.Leu1514=) c.4486C= (p.Leu1496=) c.4378C= (p.Leu1460=) c.4411C= (p.Leu1471=) c.4483C= (p.Leu1495=) | |
3 | g.38555658G>T | CA352144187 | SCN5A | c.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 |
3 | g.38555661dup | CA2739278197 | SCN5A | c.4537dup (p.Leu1513ProfsTer18) c.4540dup (p.Leu1514ProfsTer18) c.4486dup (p.Leu1496ProfsTer18) c.4378dup (p.Leu1460ProfsTer18) c.4411dup (p.Leu1471ProfsTer18) c.4483dup (p.Leu1495ProfsTer18) | ClinVar |
3 | g.38555659G>A | CA433135593 | SCN5A | c.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 |
3 | g.38555659G>C | CA433135595 | SCN5A | c.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=) | |
3 | g.38555659G>T | CA433135596 | SCN5A | c.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=) | |
3 | g.38555660G>A | CA352144188 | SCN5A | c.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 |
3 | g.38555660G>C | CA352144189 | SCN5A | c.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) | |
3 | g.38555660G>T | CA352144190 | SCN5A | c.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) | |
3 | g.38555661G>A | CA352144191 | SCN5A | c.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 |
3 | g.38555661G>C | CA352144192 | SCN5A | c.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) | |
3 | g.38555661G>T | CA352144193 | SCN5A | c.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) | |
3 | g.38555662C>A | CA433135603 | SCN5A | c.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=) | |
3 | g.38555662C= | CA1358562763 | SCN5A | c.4533G= (p.Arg1511=) c.4536G= (p.Arg1512=) c.4482G= (p.Arg1494=) c.4374G= (p.Arg1458=) c.4407G= (p.Arg1469=) c.4479G= (p.Arg1493=) | |
3 | g.38555662C>G | CA433135605 | SCN5A | c.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=) | |
3 | g.38555662C>T | CA063321 | SCN5A | c.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 |
3 | g.38555663C>A | CA063314 | SCN5A | c.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 |
3 | g.38555663C= | CA1358562769 | SCN5A | c.4532G= (p.Arg1511=) c.4535G= (p.Arg1512=) c.4481G= (p.Arg1494=) c.4373G= (p.Arg1458=) c.4406G= (p.Arg1469=) c.4478G= (p.Arg1493=) | |
3 | g.38555663C>G | CA352144194 | SCN5A | c.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 |
3 | g.38555663C>T | CA063309 | SCN5A | c.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 |
3 | g.38555664G>A | CA018413 | SCN5A | c.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 |
3 | g.38555664G>C | CA352144195 | SCN5A | c.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) | |
3 | g.38555664G= | CA1358562782 | SCN5A | c.4531C= (p.Arg1511=) c.4534C= (p.Arg1512=) c.4480C= (p.Arg1494=) c.4372C= (p.Arg1458=) c.4405C= (p.Arg1469=) c.4477C= (p.Arg1493=) | |
3 | g.38555664G>T | CA433135612 | SCN5A | c.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=) | |
3 | g.38555665T>A | CA433135614 | SCN5A | c.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 |
3 | g.38555665T>C | CA433135616 | SCN5A | c.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=) | |
3 | g.38555665T>G | CA433135617 | SCN5A | c.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=) | |
3 | g.38555665T= | CA1358562785 | SCN5A | c.4530A= (p.Pro1510=) c.4533A= (p.Pro1511=) c.4479A= (p.Pro1493=) c.4371A= (p.Pro1457=) c.4404A= (p.Pro1468=) c.4476A= (p.Pro1492=) | |
3 | g.38555666G>A | CA352144196 | SCN5A | c.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 |
3 | g.38555666G>C | CA352144197 | SCN5A | c.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) | |
3 | g.38555666G>T | CA352144198 | SCN5A | c.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) | |
3 | g.38555666_38555668dup | CA891842596 | SCN5A | c.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 |
3 | g.38555667G>A | CA352144199 | SCN5A | c.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 |
3 | g.38555667G>C | CA352144200 | SCN5A | c.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) | |
3 | g.38555667G>T | CA352144201 | SCN5A | c.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) | |
3 | g.38555668G>A | CA72942992 | SCN5A | c.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 |
3 | g.38555668G>C | CA352144202 | SCN5A | c.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) | |
3 | g.38555668G= | CA1358562790 | SCN5A | c.4527C= (p.Ile1509=) c.4530C= (p.Ile1510=) c.4476C= (p.Ile1492=) c.4368C= (p.Ile1456=) c.4401C= (p.Ile1467=) c.4473C= (p.Ile1491=) | |
3 | g.38555668G>T | CA433135627 | SCN5A | c.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=) | |
3 | g.38555669A>C | CA352144205 | SCN5A | c.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) | |
3 | g.38555669A>G | CA352144204 | SCN5A | c.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) | |
3 | g.38555669A>T | CA352144203 | SCN5A | c.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) | |
3 | g.38555670T>A | CA352144206 | SCN5A | c.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) | |
3 | g.38555670T>C | CA352144207 | SCN5A | c.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) | |
3 | g.38555670T>G | CA352144208 | SCN5A | c.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 |
3 | g.38555670_38555679delinsTGGGCTTCTG | CA1358562792 | SCN5A | c.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=) | |
3 | g.38555671G>A | CA063299 | SCN5A | c.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 |
3 | g.38555671G>C | CA433135634 | SCN5A | c.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=) | |
3 | g.38555671G= | CA1358562799 | SCN5A | c.4524C= (p.Pro1508=) c.4527C= (p.Pro1509=) c.4473C= (p.Pro1491=) c.4365C= (p.Pro1455=) c.4398C= (p.Pro1466=) c.4470C= (p.Pro1490=) | |
3 | g.38555671G>T | CA433135635 | SCN5A | c.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=) | |
3 | g.38555679_38555687dup | CA2586965705 | SCN5A | c.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 |
3 | g.38555679_38555687del | CA018388 | SCN5A | c.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 |
3 | g.38555672G>A | CA352144209 | SCN5A | c.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) | |
3 | g.38555672G>C | CA352144210 | SCN5A | c.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) | |
3 | g.38555672G>T | CA352144211 | SCN5A | c.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) | |
3 | g.38555673G>A | CA352144212 | SCN5A | c.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 |
3 | g.38555673G>C | CA352144213 | SCN5A | c.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) | |
3 | g.38555673G= | CA1358562804 | SCN5A | c.4522C= (p.Pro1508=) c.4525C= (p.Pro1509=) c.4471C= (p.Pro1491=) c.4363C= (p.Pro1455=) c.4396C= (p.Pro1466=) c.4468C= (p.Pro1490=) | |
3 | g.38555673G>T | CA063293 | SCN5A | c.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 |
3 | g.38555674C>A | CA352144214 | SCN5A | c.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) | |
3 | g.38555674C>G | CA352144215 | SCN5A | c.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) | |
3 | g.38555674C>T | CA433135645 | SCN5A | c.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=) | |
3 | g.38555675T>A | CA352144218 | SCN5A | c.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) | |
3 | g.38555675T>C | CA352144216 | SCN5A | c.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 |
3 | g.38555675T>G | CA352144217 | SCN5A | c.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) | |
3 | g.38555676T>A | CA352144219 | SCN5A | c.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 |
3 | g.38555676T>C | CA352144220 | SCN5A | c.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 |
3 | g.38555676T>G | CA352144221 | SCN5A | c.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) | |
3 | g.38555676T= | CA1358562810 | SCN5A | c.4519A= (p.Lys1507=) c.4522A= (p.Lys1508=) c.4468A= (p.Lys1490=) c.4360A= (p.Lys1454=) c.4393A= (p.Lys1465=) c.4465A= (p.Lys1489=) | |
3 | g.38555677C>A | CA352144222 | SCN5A | c.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) | |
3 | g.38555677C>G | CA352144223 | SCN5A | c.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) | |
3 | g.38555677C>T | CA433135652 | SCN5A | c.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 |
3 | g.38555678T>A | CA352144224 | SCN5A | c.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) | |
3 | g.38555678T>C | CA352144225 | SCN5A | c.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) | |
3 | g.38555678T>G | CA352144226 | SCN5A | c.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) | |
3 | g.38555679G>A | CA352144227 | SCN5A | c.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) | |
3 | g.38555679G>C | CA352144228 | SCN5A | c.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) | |
3 | g.38555679G>T | CA352144229 | SCN5A | c.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) | |
3 | g.38555680G>A | CA433135659 | SCN5A | c.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=) | |
3 | g.38555680G>C | CA433135662 | SCN5A | c.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=) | |
3 | g.38555680G= | CA1358562814 | SCN5A | c.4515C= (p.Pro1505=) c.4518C= (p.Pro1506=) c.4464C= (p.Pro1488=) c.4356C= (p.Pro1452=) c.4389C= (p.Pro1463=) c.4461C= (p.Pro1487=) | |
3 | g.38555680G>T | CA433135660 | SCN5A | c.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 |
3 | g.38555681G>A | CA063286 | SCN5A | c.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 |
3 | g.38555681G>C | CA352144231 | SCN5A | c.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) | |
3 | g.38555681G= | CA1358562819 | SCN5A | c.4514C= (p.Pro1505=) c.4517C= (p.Pro1506=) c.4463C= (p.Pro1488=) c.4355C= (p.Pro1452=) c.4388C= (p.Pro1463=) c.4460C= (p.Pro1487=) | |
3 | g.38555681G>T | CA352144230 | SCN5A | c.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 |
3 | g.38555682G>A | CA352144232 | SCN5A | c.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 |
3 | g.38555682G>C | CA352144234 | SCN5A | c.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 |
3 | g.38555682G= | CA1358562826 | SCN5A | c.4513C= (p.Pro1505=) c.4516C= (p.Pro1506=) c.4462C= (p.Pro1488=) c.4354C= (p.Pro1452=) c.4387C= (p.Pro1463=) c.4459C= (p.Pro1487=) | |
3 | g.38555682G>T | CA352144233 | SCN5A | c.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) | |
3 | g.38555689_38555703del | CA2586965707 | SCN5A | c.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) | |
3 | g.38555683C>A | CA018404 | SCN5A | c.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 |
3 | g.38555683C= | CA1358562831 | SCN5A | c.4512G= (p.Lys1504=) c.4515G= (p.Lys1505=) c.4461G= (p.Lys1487=) c.4353G= (p.Lys1451=) c.4386G= (p.Lys1462=) c.4458G= (p.Lys1486=) | |
3 | g.38555683C>G | CA352144235 | SCN5A | c.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) | |
3 | g.38555683C>T | CA433135670 | SCN5A | c.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 |
3 | g.38555684T>A | CA352144236 | SCN5A | c.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 |
3 | g.38555684T>C | CA352144237 | SCN5A | c.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) | |
3 | g.38555684T>G | CA352144238 | SCN5A | c.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) | |
3 | g.38555684T= | CA1358562836 | SCN5A | c.4511A= (p.Lys1504=) c.4514A= (p.Lys1505=) c.4460A= (p.Lys1487=) c.4352A= (p.Lys1451=) c.4385A= (p.Lys1462=) c.4457A= (p.Lys1486=) | |
3 | g.38555685T>A | CA352144239 | SCN5A | c.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 |
3 | g.38555685T>C | CA352144240 | SCN5A | c.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) | |
3 | g.38555685T>G | CA352144241 | SCN5A | c.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 |
3 | g.38555685T= | CA1358562839 | SCN5A | c.4510A= (p.Lys1504=) c.4513A= (p.Lys1505=) c.4459A= (p.Lys1487=) c.4351A= (p.Lys1451=) c.4384A= (p.Lys1462=) c.4456A= (p.Lys1486=) | |
3 | g.38555686C>A | CA018395 | SCN5A | c.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 |
3 | g.38555686C= | CA1358562845 | SCN5A | c.4509G= (p.Lys1503=) c.4512G= (p.Lys1504=) c.4458G= (p.Lys1486=) c.4350G= (p.Lys1450=) c.4383G= (p.Lys1461=) c.4455G= (p.Lys1485=) | |
3 | g.38555686C>G | CA352144242 | SCN5A | c.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) | |
3 | g.38555686C>T | CA063280 | SCN5A | c.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 |
3 | g.38555687T>A | CA352144243 | SCN5A | c.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) | |
3 | g.38555687T>C | CA352144244 | SCN5A | c.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) | |
3 | g.38555687T>G | CA352144245 | SCN5A | c.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) | |
3 | g.38555688T>A | CA352144246 | SCN5A | c.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 |
3 | g.38555688T>C | CA72943025 | SCN5A | c.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 |
3 | g.38555688T>G | CA352144247 | SCN5A | c.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) | |
3 | g.38555688T= | CA1358562851 | SCN5A | c.4507A= (p.Lys1503=) c.4510A= (p.Lys1504=) c.4456A= (p.Lys1486=) c.4348A= (p.Lys1450=) c.4381A= (p.Lys1461=) c.4453A= (p.Lys1485=) | |
3 | g.38555689G>A | CA018381 | SCN5A | c.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 |
3 | g.38555689G>C | CA433135685 | SCN5A | c.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=) | |
3 | g.38555689G= | CA1358562854 | SCN5A | c.4506C= (p.Ser1502=) c.4509C= (p.Ser1503=) c.4455C= (p.Ser1485=) c.4347C= (p.Ser1449=) c.4380C= (p.Ser1460=) c.4452C= (p.Ser1484=) | |
3 | g.38555689G>T | CA433135686 | SCN5A | c.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=) | |
3 | g.38555690G>A | CA352144248 | SCN5A | c.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) | |
3 | g.38555690G>C | CA352144249 | SCN5A | c.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) | |
3 | g.38555690G= | CA1358562858 | SCN5A | c.4505C= (p.Ser1502=) c.4508C= (p.Ser1503=) c.4454C= (p.Ser1485=) c.4346C= (p.Ser1449=) c.4379C= (p.Ser1460=) c.4451C= (p.Ser1484=) | |
3 | g.38555690G>T | CA352144250 | SCN5A | c.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 |
3 | g.38555691A= | CA1358562867 | SCN5A | c.4504T= (p.Ser1502=) c.4507T= (p.Ser1503=) c.4453T= (p.Ser1485=) c.4345T= (p.Ser1449=) c.4378T= (p.Ser1460=) c.4450T= (p.Ser1484=) | |
3 | g.38555691A>C | CA352144251 | SCN5A | c.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) | |
3 | g.38555691A>G | CA018376 | SCN5A | c.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 |
3 | g.38555691A>T | CA352144252 | SCN5A | c.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) | |
3 | g.38555692G>A | CA433135692 | SCN5A | c.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 |
3 | g.38555692G>C | CA433135694 | SCN5A | c.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=) | |
3 | g.38555692G= | CA1358562870 | SCN5A | c.4503C= (p.Gly1501=) c.4506C= (p.Gly1502=) c.4452C= (p.Gly1484=) c.4344C= (p.Gly1448=) c.4377C= (p.Gly1459=) c.4449C= (p.Gly1483=) | |
3 | g.38555692G>T | CA433135695 | SCN5A | c.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 |
3 | g.38555693C>A | CA352144253 | SCN5A | c.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 |
3 | g.38555693C= | CA1358562876 | SCN5A | c.4502G= (p.Gly1501=) c.4505G= (p.Gly1502=) c.4451G= (p.Gly1484=) c.4343G= (p.Gly1448=) c.4376G= (p.Gly1459=) c.4448G= (p.Gly1483=) | |
3 | g.38555693C>G | CA352144254 | SCN5A | c.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 |
3 | g.38555693C>T | CA352144255 | SCN5A | c.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 |
3 | g.38555694C>A | CA352144256 | SCN5A | c.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) | |
3 | g.38555694C= | CA1358562881 | SCN5A | c.4501G= (p.Gly1501=) c.4504G= (p.Gly1502=) c.4450G= (p.Gly1484=) c.4342G= (p.Gly1448=) c.4375G= (p.Gly1459=) c.4447G= (p.Gly1483=) | |
3 | g.38555694C>G | CA352144257 | SCN5A | c.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) | |
3 | g.38555694C>T | CA018370 | SCN5A | c.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 |
3 | g.38555695C>A | CA433135701 | SCN5A | c.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 |
3 | g.38555695C= | CA1358562883 | SCN5A | c.4500G= (p.Leu1500=) c.4503G= (p.Leu1501=) c.4449G= (p.Leu1483=) c.4341G= (p.Leu1447=) c.4374G= (p.Leu1458=) c.4446G= (p.Leu1482=) | |
3 | g.38555695C>G | CA433135703 | SCN5A | c.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=) | |
3 | g.38555695C>T | CA063263 | SCN5A | c.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 |
3 | g.38555696A= | CA1358562887 | SCN5A | c.4499T= (p.Leu1500=) c.4502T= (p.Leu1501=) c.4448T= (p.Leu1483=) c.4340T= (p.Leu1447=) c.4373T= (p.Leu1458=) c.4445T= (p.Leu1482=) | |
3 | g.38555696A>C | CA352144258 | SCN5A | c.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) | |
3 | g.38555696A>G | CA16611376 | SCN5A | c.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 |
3 | g.38555696A>T | CA352144259 | SCN5A | c.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) | |
3 | g.38555697G>A | CA433135707 | SCN5A | c.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 |
3 | g.38555697G>C | CA018357 | SCN5A | c.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 |
3 | g.38555697G= | CA1358562893 | SCN5A | c.4498C= (p.Leu1500=) c.4501C= (p.Leu1501=) c.4447C= (p.Leu1483=) c.4339C= (p.Leu1447=) c.4372C= (p.Leu1458=) c.4444C= (p.Leu1482=) | |
3 | g.38555697G>T | CA352144260 | SCN5A | c.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) | |
3 | g.38555698C>A | CA018351 | SCN5A | c.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 |
3 | g.38555698C= | CA1358562901 | SCN5A | c.4497G= (p.Lys1499=) c.4500G= (p.Lys1500=) c.4446G= (p.Lys1482=) c.4338G= (p.Lys1446=) c.4371G= (p.Lys1457=) c.4443G= (p.Lys1481=) | |
3 | g.38555698C>G | CA352144261 | SCN5A | c.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) | |
3 | g.38555698C>T | CA433135712 | SCN5A | c.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 |
3 | g.38555702_38555704del | CA2580614210 | SCN5A | c.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 |
3 | g.38555699T>A | CA352144262 | SCN5A | c.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) | |
3 | g.38555699T>C | CA352144263 | SCN5A | c.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) | |
3 | g.38555699T>G | CA352144264 | SCN5A | c.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 |
3 | g.38555700T>A | CA352144265 | SCN5A | c.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) | |
3 | g.38555700T>C | CA352144266 | SCN5A | c.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) | |
3 | g.38555700T>G | CA352144267 | SCN5A | c.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) | |
3 | g.38555701C>A | CA16617944 | SCN5A | c.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 |
3 | g.38555701C= | CA1358562909 | SCN5A | c.4494G= (p.Lys1498=) c.4497G= (p.Lys1499=) c.4443G= (p.Lys1481=) c.4335G= (p.Lys1445=) c.4368G= (p.Lys1456=) c.4440G= (p.Lys1480=) | |
3 | g.38555701C>G | CA352144268 | SCN5A | c.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) | |
3 | g.38555701C>T | CA433135719 | SCN5A | c.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 |
3 | g.38555702T>A | CA352144269 | SCN5A | c.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) | |
3 | g.38555702T>C | CA352144270 | SCN5A | c.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) | |
3 | g.38555702T>G | CA352144271 | SCN5A | c.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) | |
3 | g.38555703T>A | CA352144272 | SCN5A | c.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) | |
3 | g.38555703T>C | CA352144273 | SCN5A | c.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) | |
3 | g.38555703T>G | CA352144274 | SCN5A | c.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) | |
3 | g.38555704C>A | CA352144275 | SCN5A | c.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) | |
3 | g.38555704C>G | CA352144276 | SCN5A | c.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) | |
3 | g.38555704C>T | CA352144277 | SCN5A | c.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) | |
3 | g.38555705A= | CA1358562917 | SCN5A | c.4490T= (p.Met1497=) c.4493T= (p.Met1498=) c.4439T= (p.Met1480=) c.4331T= (p.Met1444=) c.4364T= (p.Met1455=) c.4436T= (p.Met1479=) | |
3 | g.38555705A>C | CA352144278 | SCN5A | c.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) | |
3 | g.38555705A>G | CA018346 | SCN5A | c.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 |
3 | g.38555705A>T | CA352144279 | SCN5A | c.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) | |
3 | g.38555706T>A | CA352144281 | SCN5A | c.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) | |
3 | g.38555706T>C | CA018339 | SCN5A | c.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 |
3 | g.38555706T>G | CA352144280 | SCN5A | c.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) | |
3 | g.38555706T= | CA1358562922 | SCN5A | c.4489A= (p.Met1497=) c.4492A= (p.Met1498=) c.4438A= (p.Met1480=) c.4330A= (p.Met1444=) c.4363A= (p.Met1455=) c.4435A= (p.Met1479=) | |
3 | g.38555707G>A | CA433135735 | SCN5A | c.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 |
3 | g.38555707G>C | CA433135737 | SCN5A | c.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=) | |
3 | g.38555707G= | CA1358562926 | SCN5A | c.4488C= (p.Ala1496=) c.4491C= (p.Ala1497=) c.4437C= (p.Ala1479=) c.4329C= (p.Ala1443=) c.4362C= (p.Ala1454=) c.4434C= (p.Ala1478=) | |
3 | g.38555707G>T | CA433135736 | SCN5A | c.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=) | |
3 | g.38555708G>A | CA352144282 | SCN5A | c.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) | |
3 | g.38555708G>C | CA352144283 | SCN5A | c.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) | |
3 | g.38555708G>T | CA352144284 | SCN5A | c.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) | |
3 | g.38555709C>A | CA352144285 | SCN5A | c.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) | |
3 | g.38555709C= | CA1358562927 | SCN5A | c.4486G= (p.Ala1496=) c.4489G= (p.Ala1497=) c.4435G= (p.Ala1479=) c.4327G= (p.Ala1443=) c.4360G= (p.Ala1454=) c.4432G= (p.Ala1478=) | |
3 | g.38555709C>G | CA352144286 | SCN5A | c.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 |
3 | g.38555709C>T | CA352144287 | SCN5A | c.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 |
3 | g.38555710A>C | CA352144288 | SCN5A | c.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) | |
3 | g.38555710A>G | CA433135743 | SCN5A | c.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 |
3 | g.38555710A>T | CA352144289 | SCN5A | c.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) | |
3 | g.38555711T>A | CA352144290 | SCN5A | c.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) | |
3 | g.38555711T>C | CA352144291 | SCN5A | c.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) | |
3 | g.38555711T>G | CA352144292 | SCN5A | c.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) | |
3 | g.38555712T>A | CA352144293 | SCN5A | c.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) | |
3 | g.38555712T>C | CA72943048 | SCN5A | c.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 |
3 | g.38555712T>G | CA352144294 | SCN5A | c.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) | |
3 | g.38555712T= | CA1358562929 | SCN5A | c.4483A= (p.Asn1495=) c.4486A= (p.Asn1496=) c.4432A= (p.Asn1478=) c.4324A= (p.Asn1442=) c.4357A= (p.Asn1453=) c.4429A= (p.Asn1477=) | |
3 | g.38555713G>A | CA433135750 | SCN5A | c.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 |
3 | g.38555713G>C | CA352144297 | SCN5A | c.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) | |
3 | g.38555713G>T | CA352144295 | SCN5A | c.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) | |
3 | g.38555714T>A | CA352144299 | SCN5A | c.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) | |
3 | g.38555714T>C | CA72943054 | SCN5A | c.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 |
3 | g.38555714T>G | CA018330 | SCN5A | c.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 |
3 | g.38555714T= | CA1358562935 | SCN5A | c.4481A= (p.Tyr1494=) c.4484A= (p.Tyr1495=) c.4430A= (p.Tyr1477=) c.4322A= (p.Tyr1441=) c.4355A= (p.Tyr1452=) c.4427A= (p.Tyr1476=) | |
3 | g.38555715A>C | CA352144300 | SCN5A | c.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) | |
3 | g.38555715A>G | CA352144301 | SCN5A | c.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) | |
3 | g.38555715A>T | CA352144302 | SCN5A | c.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) | |
3 | g.38555716G>A | CA433135763 | SCN5A | c.4479C>T (p.Tyr1493=) c.4482C>T (p.Tyr1494=) c.4428C>T (p.Tyr1476=) c.4320C>T (p.Tyr1440=) c.4353C>T (p.Tyr1451=) c.4425C>T (p.Tyr1475=) | |
3 | g.38555716G>C | CA352144304 | SCN5A | c.4479C>G (p.Tyr1493Ter) c.4482C>G (p.Tyr1494Ter) c.4428C>G (p.Tyr1476Ter) c.4320C>G (p.Tyr1440Ter) c.4353C>G (p.Tyr1451Ter) c.4425C>G (p.Tyr1475Ter) | |
3 | g.38555716G>T | CA352144303 | SCN5A | c.4479C>A (p.Tyr1493Ter) c.4482C>A (p.Tyr1494Ter) c.4428C>A (p.Tyr1476Ter) c.4320C>A (p.Tyr1440Ter) c.4353C>A (p.Tyr1451Ter) c.4425C>A (p.Tyr1475Ter) | |
3 | g.38555717T>A | CA352144305 | SCN5A | c.4478A>T (p.Tyr1493Phe) c.4481A>T (p.Tyr1494Phe) c.4427A>T (p.Tyr1476Phe) c.4319A>T (p.Tyr1440Phe) c.4352A>T (p.Tyr1451Phe) c.4424A>T (p.Tyr1475Phe) | |
3 | g.38555717T>C | CA352144306 | SCN5A | c.4478A>G (p.Tyr1493Cys) c.4481A>G (p.Tyr1494Cys) c.4427A>G (p.Tyr1476Cys) c.4319A>G (p.Tyr1440Cys) c.4352A>G (p.Tyr1451Cys) c.4424A>G (p.Tyr1475Cys) | |
3 | g.38555717T>G | CA352144307 | SCN5A | c.4478A>C (p.Tyr1493Ser) c.4481A>C (p.Tyr1494Ser) c.4427A>C (p.Tyr1476Ser) c.4319A>C (p.Tyr1440Ser) c.4352A>C (p.Tyr1451Ser) c.4424A>C (p.Tyr1475Ser) | |
3 | g.38555718A= | CA1358562940 | SCN5A | c.4477T= (p.Tyr1493=) c.4480T= (p.Tyr1494=) c.4426T= (p.Tyr1476=) c.4318T= (p.Tyr1440=) c.4351T= (p.Tyr1451=) c.4423T= (p.Tyr1475=) | |
3 | g.38555718A>C | CA352144308 | SCN5A | c.4477T>G (p.Tyr1493Asp) c.4480T>G (p.Tyr1494Asp) c.4426T>G (p.Tyr1476Asp) c.4318T>G (p.Tyr1440Asp) c.4351T>G (p.Tyr1451Asp) c.4423T>G (p.Tyr1475Asp) | |
3 | g.38555718A>G | CA352144309 | SCN5A | c.4477T>C (p.Tyr1493His) c.4480T>C (p.Tyr1494His) c.4426T>C (p.Tyr1476His) c.4318T>C (p.Tyr1440His) c.4351T>C (p.Tyr1451His) c.4423T>C (p.Tyr1475His) | |
3 | g.38555718A>T | CA018323 | SCN5A | c.4477T>A (p.Tyr1493Asn) c.4480T>A (p.Tyr1494Asn) c.4426T>A (p.Tyr1476Asn) c.4318T>A (p.Tyr1440Asn) c.4351T>A (p.Tyr1451Asn) c.4423T>A (p.Tyr1475Asn) | ClinVar dbSNP |
3 | g.38555718_38555721delinsACTT | CA1358562942 | SCN5A | c.4474_4477delinsAAGT (p.Lys1492=) c.4477_4480delinsAAGT (p.Lys1493=) c.4423_4426delinsAAGT (p.Lys1475=) c.4315_4318delinsAAGT (p.Lys1439=) c.4348_4351delinsAAGT (p.Lys1450=) c.4420_4423delinsAAGT (p.Lys1474=) |