UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38580885del | CA2577553216 | SCN5A | c.3228+48del (n.3228+48del) c.3099+48del (n.3099+48del) | gnomAD v4 |
| 3 | g.38580884G= | CA1358576005 | SCN5A | c.3228+47C= (n.3228+47C=) c.3099+47C= (n.3099+47C=) | |
| 3 | g.38580884G>T | CA906855217 | SCN5A | c.3228+47C>A (n.3228+47C>A) c.3099+47C>A (n.3099+47C>A) | dbSNP gnomAD v4 |
| 3 | g.38580885G>C | CA1358576009 | SCN5A | c.3228+46C>G (n.3228+46C>G) c.3099+46C>G (n.3099+46C>G) | dbSNP gnomAD v4 |
| 3 | g.38580885G= | CA1358576008 | SCN5A | c.3228+46C= (n.3228+46C=) c.3099+46C= (n.3099+46C=) | |
| 3 | g.38580885G>T | CA2577553217 | SCN5A | c.3228+46C>A (n.3228+46C>A) c.3099+46C>A (n.3099+46C>A) | gnomAD v4 |
| 3 | g.38580886C>A | CA2665113008 | SCN5A | c.3228+45G>T (n.3228+45G>T) c.3099+45G>T (n.3099+45G>T) | gnomAD v4 |
| 3 | g.38580886C>T | CA2665113009 | SCN5A | c.3228+45G>A (n.3228+45G>A) c.3099+45G>A (n.3099+45G>A) | gnomAD v4 |
| 3 | g.38580887C>A | CA2665113010 | SCN5A | c.3228+44G>T (n.3228+44G>T) c.3099+44G>T (n.3099+44G>T) | gnomAD v4 |
| 3 | g.38580887C= | CA1358576011 | SCN5A | c.3228+44G= (n.3228+44G=) c.3099+44G= (n.3099+44G=) | |
| 3 | g.38580887C>T | CA061414 | SCN5A | c.3228+44G>A (n.3228+44G>A) c.3099+44G>A (n.3099+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580888C>A | CA2665113011 | SCN5A | c.3228+43G>T (n.3228+43G>T) c.3099+43G>T (n.3099+43G>T) | gnomAD v4 |
| 3 | g.38580888C>T | CA2755900433 | SCN5A | c.3228+43G>A (n.3228+43G>A) c.3099+43G>A (n.3099+43G>A) | |
| 3 | g.38580889T>C | CA2665113012 | SCN5A | c.3228+42A>G (n.3228+42A>G) c.3099+42A>G (n.3099+42A>G) | gnomAD v4 |
| 3 | g.38580890G>A | CA2665113013 | SCN5A | c.3228+41C>T (n.3228+41C>T) c.3099+41C>T (n.3099+41C>T) | gnomAD v4 |
| 3 | g.38580890G>T | CA2577553218 | SCN5A | c.3228+41C>A (n.3228+41C>A) c.3099+41C>A (n.3099+41C>A) | |
| 3 | g.38580891T>C | CA2665113014 | SCN5A | c.3228+40A>G (n.3228+40A>G) c.3099+40A>G (n.3099+40A>G) | gnomAD v4 |
| 3 | g.38580892A>G | CA2577553219 | SCN5A | c.3228+39T>C (n.3228+39T>C) c.3099+39T>C (n.3099+39T>C) | gnomAD v4 |
| 3 | g.38580893T>C | CA2577553220 | SCN5A | c.3228+38A>G (n.3228+38A>G) c.3099+38A>G (n.3099+38A>G) | gnomAD v4 |
| 3 | g.38580894A>C | CA2665113015 | SCN5A | c.3228+37T>G (n.3228+37T>G) c.3099+37T>G (n.3099+37T>G) | gnomAD v4 |
| 3 | g.38580895T>C | CA061409 | SCN5A | c.3228+36A>G (n.3228+36A>G) c.3099+36A>G (n.3099+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580895T= | CA1358576013 | SCN5A | c.3228+36A= (n.3228+36A=) c.3099+36A= (n.3099+36A=) | |
| 3 | g.38580896G>A | CA061406 | SCN5A | c.3228+35C>T (n.3228+35C>T) c.3099+35C>T (n.3099+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580896G= | CA1358576014 | SCN5A | c.3228+35C= (n.3228+35C=) c.3099+35C= (n.3099+35C=) | |
| 3 | g.38580896G>T | CA2577553221 | SCN5A | c.3228+35C>A (n.3228+35C>A) c.3099+35C>A (n.3099+35C>A) | |
| 3 | g.38580898A>G | CA2665113016 | SCN5A | c.3228+33T>C (n.3228+33T>C) c.3099+33T>C (n.3099+33T>C) | gnomAD v4 |
| 3 | g.38580898A>T | CA2577553222 | SCN5A | c.3228+33T>A (n.3228+33T>A) c.3099+33T>A (n.3099+33T>A) | |
| 3 | g.38580900G>A | CA1047003597 | SCN5A | c.3228+31C>T (n.3228+31C>T) c.3099+31C>T (n.3099+31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580900G= | CA1358576017 | SCN5A | c.3228+31C= (n.3228+31C=) c.3099+31C= (n.3099+31C=) | |
| 3 | g.38580901T>C | CA2577553223 | SCN5A | c.3228+30A>G (n.3228+30A>G) c.3099+30A>G (n.3099+30A>G) | gnomAD v4 |
| 3 | g.38580902G>T | CA2665113017 | SCN5A | c.3228+29C>A (n.3228+29C>A) c.3099+29C>A (n.3099+29C>A) | gnomAD v4 |
| 3 | g.38580903C>A | CA542615685 | SCN5A | c.3228+28G>T (n.3228+28G>T) c.3099+28G>T (n.3099+28G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38580903C= | CA1358576020 | SCN5A | c.3228+28G= (n.3228+28G=) c.3099+28G= (n.3099+28G=) | |
| 3 | g.38580903C>G | CA1358576018 | SCN5A | c.3228+28G>C (n.3228+28G>C) c.3099+28G>C (n.3099+28G>C) | dbSNP gnomAD v4 |
| 3 | g.38580904C>A | CA2665113018 | SCN5A | c.3228+27G>T (n.3228+27G>T) c.3099+27G>T (n.3099+27G>T) | gnomAD v4 |
| 3 | g.38580904C= | CA1358576021 | SCN5A | c.3228+27G= (n.3228+27G=) c.3099+27G= (n.3099+27G=) | |
| 3 | g.38580904C>G | CA061403 | SCN5A | c.3228+27G>C (n.3228+27G>C) c.3099+27G>C (n.3099+27G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580905T>C | CA2665113019 | SCN5A | c.3228+26A>G (n.3228+26A>G) c.3099+26A>G (n.3099+26A>G) | gnomAD v4 |
| 3 | g.38580906T>C | CA061399 | SCN5A | c.3228+25A>G (n.3228+25A>G) c.3099+25A>G (n.3099+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580906T= | CA1358576023 | SCN5A | c.3228+25A= (n.3228+25A=) c.3099+25A= (n.3099+25A=) | |
| 3 | g.38580908T>A | CA1358576027 | SCN5A | c.3228+23A>T (n.3228+23A>T) c.3099+23A>T (n.3099+23A>T) | dbSNP |
| 3 | g.38580908T>C | CA542615686 | SCN5A | c.3228+23A>G (n.3228+23A>G) c.3099+23A>G (n.3099+23A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38580908T= | CA1358576025 | SCN5A | c.3228+23A= (n.3228+23A=) c.3099+23A= (n.3099+23A=) | |
| 3 | g.38580909A= | CA1358576030 | SCN5A | c.3228+22T= (n.3228+22T=) c.3099+22T= (n.3099+22T=) | |
| 3 | g.38580909A>G | CA061396 | SCN5A | c.3228+22T>C (n.3228+22T>C) c.3099+22T>C (n.3099+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580910C>A | CA2665113020 | SCN5A | c.3228+21G>T (n.3228+21G>T) c.3099+21G>T (n.3099+21G>T) | gnomAD v4 |
| 3 | g.38580910_38580997delinsCATGCAGGGGTGAGGGCCCACCTGCTTGCTGGACTCCTCCTCCGTGCCCAGGCTGTTCTCCTCATCTTCTTCTTGGTCATCTGTGTCT | CA1358576032 | SCN5A | c.3162_3228+21delinsAGACACAGATGACCAAGAAGAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAGGTGGGCCCTCACCCCTGCATG c.3033_3099+21delinsAGACACAGATGACCAAGAAGAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAGGTGGGCCCTCACCCCTGCATG | |
| 3 | g.38580911A= | CA1358576034 | SCN5A | c.3228+20T= (n.3228+20T=) c.3099+20T= (n.3099+20T=) | |
| 3 | g.38580911A>C | CA542615687 | SCN5A | c.3228+20T>G (n.3228+20T>G) c.3099+20T>G (n.3099+20T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38580911A>G | CA542615688 | SCN5A | c.3228+20T>C (n.3228+20T>C) c.3099+20T>C (n.3099+20T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580911_38580997del | CA1047003605 | SCN5A | c.3162_3228+20del c.3033_3099+20del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580912T>C | CA2580069748 | SCN5A | c.3228+19A>G (n.3228+19A>G) c.3099+19A>G (n.3099+19A>G) | ClinVar gnomAD v4 |
| 3 | g.38580912T>G | CA061393 | SCN5A | c.3228+19A>C (n.3228+19A>C) c.3099+19A>C (n.3099+19A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580912T= | CA1358576036 | SCN5A | c.3228+19A= (n.3228+19A=) c.3099+19A= (n.3099+19A=) | |
| 3 | g.38580913G>A | CA2665113021 | SCN5A | c.3228+18C>T (n.3228+18C>T) c.3099+18C>T (n.3099+18C>T) | gnomAD v4 |
| 3 | g.38580913G= | CA1358576038 | SCN5A | c.3228+18C= (n.3228+18C=) c.3099+18C= (n.3099+18C=) | |
| 3 | g.38580913G>T | CA1358576039 | SCN5A | c.3228+18C>A (n.3228+18C>A) c.3099+18C>A (n.3099+18C>A) | dbSNP gnomAD v4 |
| 3 | g.38580914C>A | CA2665113022 | SCN5A | c.3228+17G>T (n.3228+17G>T) c.3099+17G>T (n.3099+17G>T) | gnomAD v4 |
| 3 | g.38580914C= | CA1358576041 | SCN5A | c.3228+17G= (n.3228+17G=) c.3099+17G= (n.3099+17G=) | |
| 3 | g.38580914C>G | CA061389 | SCN5A | c.3228+17G>C (n.3228+17G>C) c.3099+17G>C (n.3099+17G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580915A>G | CA2665113023 | SCN5A | c.3228+16T>C (n.3228+16T>C) c.3099+16T>C (n.3099+16T>C) | gnomAD v4 |
| 3 | g.38580915_38580916delinsAG | CA1358576043 | SCN5A | c.3228+15_3228+16delinsCT (n.3228+15_3228+16delinsCT) c.3099+15_3099+16delinsCT (n.3099+15_3099+16delinsCT) | |
| 3 | g.38580919del | CA061388 | SCN5A | c.3228+15del (n.3228+15del) c.3099+15del (n.3099+15del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580917G>C | CA2697550826 | SCN5A | c.3228+14C>G (n.3228+14C>G) c.3099+14C>G (n.3099+14C>G) | ClinVar |
| 3 | g.38580917G= | CA1358576044 | SCN5A | c.3228+14C= (n.3228+14C=) c.3099+14C= (n.3099+14C=) | |
| 3 | g.38580917G>T | CA1358576045 | SCN5A | c.3228+14C>A (n.3228+14C>A) c.3099+14C>A (n.3099+14C>A) | dbSNP |
| 3 | g.38580918G>A | CA061386 | SCN5A | c.3228+13C>T (n.3228+13C>T) c.3099+13C>T (n.3099+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580918G= | CA1358576047 | SCN5A | c.3228+13C= (n.3228+13C=) c.3099+13C= (n.3099+13C=) | |
| 3 | g.38580918G>T | CA2665113024 | SCN5A | c.3228+13C>A (n.3228+13C>A) c.3099+13C>A (n.3099+13C>A) | gnomAD v4 |
| 3 | g.38580919G>A | CA2665113025 | SCN5A | c.3228+12C>T (n.3228+12C>T) c.3099+12C>T (n.3099+12C>T) | gnomAD v4 |
| 3 | g.38580921G>A | CA72926019 | SCN5A | c.3228+10C>T (n.3228+10C>T) c.3099+10C>T (n.3099+10C>T) | dbSNP |
| 3 | g.38580921G= | CA1358576049 | SCN5A | c.3228+10C= (n.3228+10C=) c.3099+10C= (n.3099+10C=) | |
| 3 | g.38580921G>T | CA2573136274 | SCN5A | c.3228+10C>A (n.3228+10C>A) c.3099+10C>A (n.3099+10C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38580923G>A | CA061420 | SCN5A | c.3228+8C>T (n.3228+8C>T) c.3099+8C>T (n.3099+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580923G= | CA1358576051 | SCN5A | c.3228+8C= (n.3228+8C=) c.3099+8C= (n.3099+8C=) | |
| 3 | g.38580923G>T | CA2755900436 | SCN5A | c.3228+8C>A (n.3228+8C>A) c.3099+8C>A (n.3099+8C>A) | |
| 3 | g.38580924G>A | CA2665113026 | SCN5A | c.3228+7C>T (n.3228+7C>T) c.3099+7C>T (n.3099+7C>T) | gnomAD v4 |
| 3 | g.38580924G>T | CA2665113027 | SCN5A | c.3228+7C>A (n.3228+7C>A) c.3099+7C>A (n.3099+7C>A) | gnomAD v4 |
| 3 | g.38580925G>C | CA061417 | SCN5A | c.3228+6C>G (n.3228+6C>G) c.3099+6C>G (n.3099+6C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580925G= | CA1358576054 | SCN5A | c.3228+6C= (n.3228+6C=) c.3099+6C= (n.3099+6C=) | |
| 3 | g.38580925G>T | CA2577553225 | SCN5A | c.3228+6C>A (n.3228+6C>A) c.3099+6C>A (n.3099+6C>A) | gnomAD v4 |
| 3 | g.38580926C>A | CA2665113028 | SCN5A | c.3228+5G>T (n.3228+5G>T) c.3099+5G>T (n.3099+5G>T) | ClinVar gnomAD v4 |
| 3 | g.38580926C= | CA1358576057 | SCN5A | c.3228+5G= (n.3228+5G=) c.3099+5G= (n.3099+5G=) | |
| 3 | g.38580926C>T | CA542615689 | SCN5A | c.3228+5G>A (n.3228+5G>A) c.3099+5G>A (n.3099+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38580927C>T | CA2665113029 | SCN5A | c.3228+4G>A (n.3228+4G>A) c.3099+4G>A (n.3099+4G>A) | gnomAD v4 |
| 3 | g.38580928C>T | CA2499216749 | SCN5A | c.3228+3G>A (n.3228+3G>A) c.3099+3G>A (n.3099+3G>A) | ClinVar dbSNP |
| 3 | g.38580929del | CA2586972011 | SCN5A | c.3228+2del (n.3228+2del) c.3099+2del (n.3099+2del) | |
| 3 | g.38580929A>C | CA352138931 | SCN5A | c.3228+2T>G (n.3228+2T>G) c.3099+2T>G (n.3099+2T>G) | |
| 3 | g.38580929A>G | CA352138932 | SCN5A | c.3228+2T>C (n.3228+2T>C) c.3099+2T>C (n.3099+2T>C) | |
| 3 | g.38580929A>T | CA352138933 | SCN5A | c.3228+2T>A (n.3228+2T>A) c.3099+2T>A (n.3099+2T>A) | |
| 3 | g.38580930C>A | CA352138934 | SCN5A | c.3228+1G>T (n.3228+1G>T) c.3099+1G>T (n.3099+1G>T) | |
| 3 | g.38580930C>G | CA352138935 | SCN5A | c.3228+1G>C (n.3228+1G>C) c.3099+1G>C (n.3099+1G>C) | ClinVar |
| 3 | g.38580930C>T | CA352138936 | SCN5A | c.3228+1G>A (n.3228+1G>A) c.3099+1G>A (n.3099+1G>A) | gnomAD v4 |
| 3 | g.38580931C>A | CA352138937 | SCN5A | c.3228G>T (p.Gln1076His) c.3099G>T (p.Gln1033His) | gnomAD v4 |
| 3 | g.38580931C>G | CA352138938 | SCN5A | c.3228G>C (p.Gln1076His) c.3099G>C (p.Gln1033His) | |
| 3 | g.38580931C>T | CA433134918 | SCN5A | c.3228G>A (p.Gln1076=) c.3099G>A (p.Gln1033=) | |
| 3 | g.38580932T>A | CA352138940 | SCN5A | c.3227A>T (p.Gln1076Leu) c.3098A>T (p.Gln1033Leu) | |
| 3 | g.38580932T>C | CA352138941 | SCN5A | c.3227A>G (p.Gln1076Arg) c.3098A>G (p.Gln1033Arg) | |
| 3 | g.38580932T>G | CA352138939 | SCN5A | c.3227A>C (p.Gln1076Pro) c.3098A>C (p.Gln1033Pro) | |
| 3 | g.38580933G>A | CA352138942 | SCN5A | c.3226C>T (p.Gln1076Ter) c.3097C>T (p.Gln1033Ter) | gnomAD v4 |
| 3 | g.38580933G>C | CA352138943 | SCN5A | c.3226C>G (p.Gln1076Glu) c.3097C>G (p.Gln1033Glu) | |
| 3 | g.38580933G>T | CA352138944 | SCN5A | c.3226C>A (p.Gln1076Lys) c.3097C>A (p.Gln1033Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38580934C>A | CA352138945 | SCN5A | c.3225G>T (p.Lys1075Asn) c.3096G>T (p.Lys1032Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38580934C= | CA1358576063 | SCN5A | c.3225G= (p.Lys1075=) c.3096G= (p.Lys1032=) | |
| 3 | g.38580934C>G | CA352138946 | SCN5A | c.3225G>C (p.Lys1075Asn) c.3096G>C (p.Lys1032Asn) | |
| 3 | g.38580934C>T | CA433134925 | SCN5A | c.3225G>A (p.Lys1075=) c.3096G>A (p.Lys1032=) | |
| 3 | g.38580935T>A | CA352138949 | SCN5A | c.3224A>T (p.Lys1075Met) c.3095A>T (p.Lys1032Met) | |
| 3 | g.38580935T>C | CA352138947 | SCN5A | c.3224A>G (p.Lys1075Arg) c.3095A>G (p.Lys1032Arg) | |
| 3 | g.38580935T>G | CA352138948 | SCN5A | c.3224A>C (p.Lys1075Thr) c.3095A>C (p.Lys1032Thr) | |
| 3 | g.38580936T>A | CA352138951 | SCN5A | c.3223A>T (p.Lys1075Ter) c.3094A>T (p.Lys1032Ter) | |
| 3 | g.38580936T>C | CA352138953 | SCN5A | c.3223A>G (p.Lys1075Glu) c.3094A>G (p.Lys1032Glu) | |
| 3 | g.38580936T>G | CA352138955 | SCN5A | c.3223A>C (p.Lys1075Gln) c.3094A>C (p.Lys1032Gln) | |
| 3 | g.38580937G>A | CA433134933 | SCN5A | c.3222C>T (p.Ser1074=) c.3093C>T (p.Ser1031=) | |
| 3 | g.38580937G>C | CA352138957 | SCN5A | c.3222C>G (p.Ser1074Arg) c.3093C>G (p.Ser1031Arg) | COSMIC COSMIC COSMIC |
| 3 | g.38580937G= | CA1358576067 | SCN5A | c.3222C= (p.Ser1074=) c.3093C= (p.Ser1031=) | |
| 3 | g.38580937G>T | CA72926024 | SCN5A | c.3222C>A (p.Ser1074Arg) c.3093C>A (p.Ser1031Arg) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38580938C>A | CA352138964 | SCN5A | c.3221G>T (p.Ser1074Ile) c.3092G>T (p.Ser1031Ile) | |
| 3 | g.38580938C>G | CA352138960 | SCN5A | c.3221G>C (p.Ser1074Thr) c.3092G>C (p.Ser1031Thr) | |
| 3 | g.38580938C>T | CA352138962 | SCN5A | c.3221G>A (p.Ser1074Asn) c.3092G>A (p.Ser1031Asn) | ClinVar dbSNP |
| 3 | g.38580939T>A | CA352138966 | SCN5A | c.3220A>T (p.Ser1074Cys) c.3091A>T (p.Ser1031Cys) | |
| 3 | g.38580939T>C | CA352138969 | SCN5A | c.3220A>G (p.Ser1074Gly) c.3091A>G (p.Ser1031Gly) | dbSNP |
| 3 | g.38580939T>G | CA352138968 | SCN5A | c.3220A>C (p.Ser1074Arg) c.3091A>C (p.Ser1031Arg) | |
| 3 | g.38580940G>A | CA433134942 | SCN5A | c.3219C>T (p.Ser1073=) c.3090C>T (p.Ser1030=) | gnomAD v4 |
| 3 | g.38580940G>C | CA433134943 | SCN5A | c.3219C>G (p.Ser1073=) c.3090C>G (p.Ser1030=) | |
| 3 | g.38580940G>T | CA433134945 | SCN5A | c.3219C>A (p.Ser1073=) c.3090C>A (p.Ser1030=) | |
| 3 | g.38580941G>A | CA352138972 | SCN5A | c.3218C>T (p.Ser1073Phe) c.3089C>T (p.Ser1030Phe) | |
| 3 | g.38580941G>C | CA352138973 | SCN5A | c.3218C>G (p.Ser1073Cys) c.3089C>G (p.Ser1030Cys) | |
| 3 | g.38580941G>T | CA352138974 | SCN5A | c.3218C>A (p.Ser1073Tyr) c.3089C>A (p.Ser1030Tyr) | |
| 3 | g.38580942A>C | CA352138976 | SCN5A | c.3217T>G (p.Ser1073Ala) c.3088T>G (p.Ser1030Ala) | gnomAD v3 gnomAD v4 |
| 3 | g.38580942A>G | CA352138977 | SCN5A | c.3217T>C (p.Ser1073Pro) c.3088T>C (p.Ser1030Pro) | |
| 3 | g.38580942A>T | CA352138979 | SCN5A | c.3217T>A (p.Ser1073Thr) c.3088T>A (p.Ser1030Thr) | |
| 3 | g.38580942_38580945delinsACTC | CA1358576070 | SCN5A | c.3214_3217delinsGAGT (p.Glu1072=) c.3085_3088delinsGAGT (p.Glu1029=) | |
| 3 | g.38580943C>A | CA352138982 | SCN5A | c.3216G>T (p.Glu1072Asp) c.3087G>T (p.Glu1029Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38580943C>G | CA352138988 | SCN5A | c.3216G>C (p.Glu1072Asp) c.3087G>C (p.Glu1029Asp) | |
| 3 | g.38580943C>T | CA433134952 | SCN5A | c.3216G>A (p.Glu1072=) c.3087G>A (p.Glu1029=) | gnomAD v4 |
| 3 | g.38580950_38580952del | CA061383 | SCN5A | c.3214_3216del (p.Glu1072del) c.3085_3087del (p.Glu1029del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580949_38580972dup | CA2697550828 | SCN5A | c.3193_3216dup (p.Glu1072_Ser1073insAsnSerLeuGlyThrGluGluGlu) c.3064_3087dup (p.Glu1029_Ser1030insAsnSerLeuGlyThrGluGluGlu) | ClinVar |
| 3 | g.38580949_38580972del | CA2665113030 | SCN5A | c.3193_3216del (p.Asn1065_Glu1072del) c.3064_3087del (p.Asn1022_Glu1029del) | gnomAD v4 |
| 3 | g.38580944T>A | CA352138991 | SCN5A | c.3215A>T (p.Glu1072Val) c.3086A>T (p.Glu1029Val) | |
| 3 | g.38580944T>C | CA352138993 | SCN5A | c.3215A>G (p.Glu1072Gly) c.3086A>G (p.Glu1029Gly) | gnomAD v4 |
| 3 | g.38580944T>G | CA72926028 | SCN5A | c.3215A>C (p.Glu1072Ala) c.3086A>C (p.Glu1029Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580944T= | CA1358576081 | SCN5A | c.3215A= (p.Glu1072=) c.3086A= (p.Glu1029=) | |
| 3 | g.38580944_38580945delinsGA | CA658796281 | SCN5A | c.3214_3215delinsTC (p.Glu1072Ser) c.3085_3086delinsTC (p.Glu1029Ser) | ClinVar |
| 3 | g.38580945C>A | CA72926031 | SCN5A | c.3214G>T (p.Glu1072Ter) c.3085G>T (p.Glu1029Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580945C= | CA1358576085 | SCN5A | c.3214G= (p.Glu1072=) c.3085G= (p.Glu1029=) | |
| 3 | g.38580945C>G | CA352138997 | SCN5A | c.3214G>C (p.Glu1072Gln) c.3085G>C (p.Glu1029Gln) | |
| 3 | g.38580945C>T | CA352138998 | SCN5A | c.3214G>A (p.Glu1072Lys) c.3085G>A (p.Glu1029Lys) | |
| 3 | g.38580946C>A | CA352139002 | SCN5A | c.3213G>T (p.Glu1071Asp) c.3084G>T (p.Glu1028Asp) | gnomAD v4 |
| 3 | g.38580946C= | CA1358576088 | SCN5A | c.3213G= (p.Glu1071=) c.3084G= (p.Glu1028=) | |
| 3 | g.38580946C>G | CA352139003 | SCN5A | c.3213G>C (p.Glu1071Asp) c.3084G>C (p.Glu1028Asp) | |
| 3 | g.38580946C>T | CA72926034 | SCN5A | c.3213G>A (p.Glu1071=) c.3084G>A (p.Glu1028=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38580947T>A | CA352139007 | SCN5A | c.3212A>T (p.Glu1071Val) c.3083A>T (p.Glu1028Val) | |
| 3 | g.38580947T>C | CA352139009 | SCN5A | c.3212A>G (p.Glu1071Gly) c.3083A>G (p.Glu1028Gly) | gnomAD v4 |
| 3 | g.38580947T>G | CA352139011 | SCN5A | c.3212A>C (p.Glu1071Ala) c.3083A>C (p.Glu1028Ala) | |
| 3 | g.38580948C>A | CA352139012 | SCN5A | c.3211G>T (p.Glu1071Ter) c.3082G>T (p.Glu1028Ter) | dbSNP gnomAD v4 |
| 3 | g.38580948C= | CA1358576094 | SCN5A | c.3211G= (p.Glu1071=) c.3082G= (p.Glu1028=) | |
| 3 | g.38580948C>G | CA352139013 | SCN5A | c.3211G>C (p.Glu1071Gln) c.3082G>C (p.Glu1028Gln) | |
| 3 | g.38580948C>T | CA352139014 | SCN5A | c.3211G>A (p.Glu1071Lys) c.3082G>A (p.Glu1028Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580948_38580952dup | CA2586972012 | SCN5A | c.3207_3211dup (p.Glu1071GlyfsTer?) c.3207_3211dup (p.Glu1071GlyfsTer22) c.3078_3082dup (p.Glu1028GlyfsTer?) | |
| 3 | g.38580949C>A | CA352139017 | SCN5A | c.3210G>T (p.Glu1070Asp) c.3081G>T (p.Glu1027Asp) | gnomAD v4 |
| 3 | g.38580949C= | CA1358576101 | SCN5A | c.3210G= (p.Glu1070=) c.3081G= (p.Glu1027=) | |
| 3 | g.38580949C>G | CA352139018 | SCN5A | c.3210G>C (p.Glu1070Asp) c.3081G>C (p.Glu1027Asp) | |
| 3 | g.38580949C>T | CA433134970 | SCN5A | c.3210G>A (p.Glu1070=) c.3081G>A (p.Glu1027=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38580950T>A | CA352139023 | SCN5A | c.3209A>T (p.Glu1070Val) c.3080A>T (p.Glu1027Val) | |
| 3 | g.38580950T>C | CA352139021 | SCN5A | c.3209A>G (p.Glu1070Gly) c.3080A>G (p.Glu1027Gly) | |
| 3 | g.38580950T>G | CA352139020 | SCN5A | c.3209A>C (p.Glu1070Ala) c.3080A>C (p.Glu1027Ala) | |
| 3 | g.38580951C>A | CA352139027 | SCN5A | c.3208G>T (p.Glu1070Ter) c.3079G>T (p.Glu1027Ter) | dbSNP |
| 3 | g.38580951C= | CA1358576104 | SCN5A | c.3208G= (p.Glu1070=) c.3079G= (p.Glu1027=) | |
| 3 | g.38580951C>G | CA352139025 | SCN5A | c.3208G>C (p.Glu1070Gln) c.3079G>C (p.Glu1027Gln) | |
| 3 | g.38580951C>T | CA72926037 | SCN5A | c.3208G>A (p.Glu1070Lys) c.3079G>A (p.Glu1027Lys) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38580952C>A | CA433134978 | SCN5A | c.3207G>T (p.Thr1069=) c.3078G>T (p.Thr1026=) | COSMIC COSMIC COSMIC |
| 3 | g.38580952C= | CA1358576110 | SCN5A | c.3207G= (p.Thr1069=) c.3078G= (p.Thr1026=) | |
| 3 | g.38580952C>G | CA433134981 | SCN5A | c.3207G>C (p.Thr1069=) c.3078G>C (p.Thr1026=) | |
| 3 | g.38580952C>T | CA016909 | SCN5A | c.3207G>A (p.Thr1069=) c.3078G>A (p.Thr1026=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580953G>A | CA016900 | SCN5A | c.3206C>T (p.Thr1069Met) c.3077C>T (p.Thr1026Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38580953G>C | CA352139032 | SCN5A | c.3206C>G (p.Thr1069Arg) c.3077C>G (p.Thr1026Arg) | ClinVar gnomAD v4 |
| 3 | g.38580953G= | CA1358576121 | SCN5A | c.3206C= (p.Thr1069=) c.3077C= (p.Thr1026=) | |
| 3 | g.38580953G>T | CA352139034 | SCN5A | c.3206C>A (p.Thr1069Lys) c.3077C>A (p.Thr1026Lys) | |
| 3 | g.38580954T>A | CA352139035 | SCN5A | c.3205A>T (p.Thr1069Ser) c.3076A>T (p.Thr1026Ser) | |
| 3 | g.38580954T>C | CA352139037 | SCN5A | c.3205A>G (p.Thr1069Ala) c.3076A>G (p.Thr1026Ala) | |
| 3 | g.38580954T>G | CA352139039 | SCN5A | c.3205A>C (p.Thr1069Pro) c.3076A>C (p.Thr1026Pro) | |
| 3 | g.38580955G>A | CA433134991 | SCN5A | c.3204C>T (p.Gly1068=) c.3075C>T (p.Gly1025=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580955G>C | CA433134992 | SCN5A | c.3204C>G (p.Gly1068=) c.3075C>G (p.Gly1025=) | |
| 3 | g.38580955G= | CA1358576128 | SCN5A | c.3204C= (p.Gly1068=) c.3075C= (p.Gly1025=) | |
| 3 | g.38580955G>T | CA433134993 | SCN5A | c.3204C>A (p.Gly1068=) c.3075C>A (p.Gly1025=) | |
| 3 | g.38580956C>A | CA352139041 | SCN5A | c.3203G>T (p.Gly1068Val) c.3074G>T (p.Gly1025Val) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38580956C= | CA1358576137 | SCN5A | c.3203G= (p.Gly1068=) c.3074G= (p.Gly1025=) | |
| 3 | g.38580956C>G | CA061373 | SCN5A | c.3203G>C (p.Gly1068Ala) c.3074G>C (p.Gly1025Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580956C>T | CA061368 | SCN5A | c.3203G>A (p.Gly1068Asp) c.3074G>A (p.Gly1025Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580957C>A | CA352139047 | SCN5A | c.3202G>T (p.Gly1068Cys) c.3073G>T (p.Gly1025Cys) | |
| 3 | g.38580957C>G | CA352139045 | SCN5A | c.3202G>C (p.Gly1068Arg) c.3073G>C (p.Gly1025Arg) | |
| 3 | g.38580957C>T | CA352139044 | SCN5A | c.3202G>A (p.Gly1068Ser) c.3073G>A (p.Gly1025Ser) | |
| 3 | g.38580958C>A | CA433135000 | SCN5A | c.3201G>T (p.Leu1067=) c.3072G>T (p.Leu1024=) | |
| 3 | g.38580958C>G | CA433135001 | SCN5A | c.3201G>C (p.Leu1067=) c.3072G>C (p.Leu1024=) | |
| 3 | g.38580958C>T | CA433135002 | SCN5A | c.3201G>A (p.Leu1067=) c.3072G>A (p.Leu1024=) | |
| 3 | g.38580959A= | CA1358576140 | SCN5A | c.3200T= (p.Leu1067=) c.3071T= (p.Leu1024=) | |
| 3 | g.38580959A>C | CA352139050 | SCN5A | c.3200T>G (p.Leu1067Arg) c.3071T>G (p.Leu1024Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38580959A>G | CA352139051 | SCN5A | c.3200T>C (p.Leu1067Pro) c.3071T>C (p.Leu1024Pro) | |
| 3 | g.38580959A>T | CA352139053 | SCN5A | c.3200T>A (p.Leu1067Gln) c.3071T>A (p.Leu1024Gln) | |
| 3 | g.38580960G>A | CA433135006 | SCN5A | c.3199C>T (p.Leu1067=) c.3070C>T (p.Leu1024=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580960G>C | CA352139056 | SCN5A | c.3199C>G (p.Leu1067Val) c.3070C>G (p.Leu1024Val) | |
| 3 | g.38580960G= | CA1358576143 | SCN5A | c.3199C= (p.Leu1067=) c.3070C= (p.Leu1024=) | |
| 3 | g.38580960G>T | CA352139057 | SCN5A | c.3199C>A (p.Leu1067Met) c.3070C>A (p.Leu1024Met) | gnomAD v4 |
| 3 | g.38580961G>A | CA433135009 | SCN5A | c.3198C>T (p.Ser1066=) c.3069C>T (p.Ser1023=) | ClinVar dbSNP |
| 3 | g.38580961G>C | CA352139058 | SCN5A | c.3198C>G (p.Ser1066Arg) c.3069C>G (p.Ser1023Arg) | |
| 3 | g.38580961G= | CA1358576148 | SCN5A | c.3198C= (p.Ser1066=) c.3069C= (p.Ser1023=) | |
| 3 | g.38580961G>T | CA352139059 | SCN5A | c.3198C>A (p.Ser1066Arg) c.3069C>A (p.Ser1023Arg) | |
| 3 | g.38580962C>A | CA352139062 | SCN5A | c.3197G>T (p.Ser1066Ile) c.3068G>T (p.Ser1023Ile) | gnomAD v4 |
| 3 | g.38580962C>G | CA352139063 | SCN5A | c.3197G>C (p.Ser1066Thr) c.3068G>C (p.Ser1023Thr) | |
| 3 | g.38580962C>T | CA352139065 | SCN5A | c.3197G>A (p.Ser1066Asn) c.3068G>A (p.Ser1023Asn) | |
| 3 | g.38580963T>A | CA352139068 | SCN5A | c.3196A>T (p.Ser1066Cys) c.3067A>T (p.Ser1023Cys) | |
| 3 | g.38580963T>C | CA061363 | SCN5A | c.3196A>G (p.Ser1066Gly) c.3067A>G (p.Ser1023Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580963T>G | CA352139070 | SCN5A | c.3196A>C (p.Ser1066Arg) c.3067A>C (p.Ser1023Arg) | |
| 3 | g.38580963T= | CA1358576155 | SCN5A | c.3196A= (p.Ser1066=) c.3067A= (p.Ser1023=) | |
| 3 | g.38580964G>A | CA061358 | SCN5A | c.3195C>T (p.Asn1065=) c.3066C>T (p.Asn1022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580964G>C | CA352139075 | SCN5A | c.3195C>G (p.Asn1065Lys) c.3066C>G (p.Asn1022Lys) | |
| 3 | g.38580964G= | CA1358576163 | SCN5A | c.3195C= (p.Asn1065=) c.3066C= (p.Asn1022=) | |
| 3 | g.38580964G>T | CA352139073 | SCN5A | c.3195C>A (p.Asn1065Lys) c.3066C>A (p.Asn1022Lys) | |
| 3 | g.38580965T>A | CA352139078 | SCN5A | c.3194A>T (p.Asn1065Ile) c.3065A>T (p.Asn1022Ile) | |
| 3 | g.38580965T>C | CA352139081 | SCN5A | c.3194A>G (p.Asn1065Ser) c.3065A>G (p.Asn1022Ser) | gnomAD v4 |
| 3 | g.38580965T>G | CA352139079 | SCN5A | c.3194A>C (p.Asn1065Thr) c.3065A>C (p.Asn1022Thr) | |
| 3 | g.38580966T>A | CA352139082 | SCN5A | c.3193A>T (p.Asn1065Tyr) c.3064A>T (p.Asn1022Tyr) | |
| 3 | g.38580966T>C | CA352139083 | SCN5A | c.3193A>G (p.Asn1065Asp) c.3064A>G (p.Asn1022Asp) | |
| 3 | g.38580966T>G | CA352139084 | SCN5A | c.3193A>C (p.Asn1065His) c.3064A>C (p.Asn1022His) | |
| 3 | g.38580966_38580969delinsTCTC | CA1358576168 | SCN5A | c.3190_3193delinsGAGA (p.Glu1064=) c.3061_3064delinsGAGA (p.Glu1021=) | |
| 3 | g.38580967C>A | CA352139086 | SCN5A | c.3192G>T (p.Glu1064Asp) c.3063G>T (p.Glu1021Asp) | |
| 3 | g.38580967C= | CA1358576174 | SCN5A | c.3192G= (p.Glu1064=) c.3063G= (p.Glu1021=) | |
| 3 | g.38580967C>G | CA352139088 | SCN5A | c.3192G>C (p.Glu1064Asp) c.3063G>C (p.Glu1021Asp) | gnomAD v4 |
| 3 | g.38580967C>T | CA10587576 | SCN5A | c.3192G>A (p.Glu1064=) c.3063G>A (p.Glu1021=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38580970_38580972del | CA016894 | SCN5A | c.3190_3192del (p.Glu1064del) c.3061_3063del (p.Glu1021del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580968T>A | CA352139091 | SCN5A | c.3191A>T (p.Glu1064Val) c.3062A>T (p.Glu1021Val) | |
| 3 | g.38580968T>C | CA352139092 | SCN5A | c.3191A>G (p.Glu1064Gly) c.3062A>G (p.Glu1021Gly) | |
| 3 | g.38580968T>G | CA352139094 | SCN5A | c.3191A>C (p.Glu1064Ala) c.3062A>C (p.Glu1021Ala) | |
| 3 | g.38580969C>A | CA352139095 | SCN5A | c.3190G>T (p.Glu1064Ter) c.3061G>T (p.Glu1021Ter) | dbSNP |
| 3 | g.38580969C= | CA1358576181 | SCN5A | c.3190G= (p.Glu1064=) c.3061G= (p.Glu1021=) | |
| 3 | g.38580969C>G | CA352139096 | SCN5A | c.3190G>C (p.Glu1064Gln) c.3061G>C (p.Glu1021Gln) | |
| 3 | g.38580969C>T | CA352139098 | SCN5A | c.3190G>A (p.Glu1064Lys) c.3061G>A (p.Glu1021Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580970C>A | CA352139100 | SCN5A | c.3189G>T (p.Glu1063Asp) c.3060G>T (p.Glu1020Asp) | |
| 3 | g.38580970C>G | CA352139101 | SCN5A | c.3189G>C (p.Glu1063Asp) c.3060G>C (p.Glu1020Asp) | |
| 3 | g.38580970C>T | CA433135037 | SCN5A | c.3189G>A (p.Glu1063=) c.3060G>A (p.Glu1020=) | |
| 3 | g.38580971T>A | CA352139103 | SCN5A | c.3188A>T (p.Glu1063Val) c.3059A>T (p.Glu1020Val) | |
| 3 | g.38580971T>C | CA061351 | SCN5A | c.3188A>G (p.Glu1063Gly) c.3059A>G (p.Glu1020Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38580971T>G | CA352139104 | SCN5A | c.3188A>C (p.Glu1063Ala) c.3059A>C (p.Glu1020Ala) | |
| 3 | g.38580971T= | CA1358576185 | SCN5A | c.3188A= (p.Glu1063=) c.3059A= (p.Glu1020=) | |
| 3 | g.38580972C>A | CA352139105 | SCN5A | c.3187G>T (p.Glu1063Ter) c.3058G>T (p.Glu1020Ter) | dbSNP |
| 3 | g.38580972C= | CA1358576188 | SCN5A | c.3187G= (p.Glu1063=) c.3058G= (p.Glu1020=) | |
| 3 | g.38580972C>G | CA352139108 | SCN5A | c.3187G>C (p.Glu1063Gln) c.3058G>C (p.Glu1020Gln) | |
| 3 | g.38580972C>T | CA352139109 | SCN5A | c.3187G>A (p.Glu1063Lys) c.3058G>A (p.Glu1020Lys) | gnomAD v4 |
| 3 | g.38580973A= | CA1358576191 | SCN5A | c.3186T= (p.Asp1062=) c.3057T= (p.Asp1019=) | |
| 3 | g.38580973A>C | CA352139112 | SCN5A | c.3186T>G (p.Asp1062Glu) c.3057T>G (p.Asp1019Glu) | |
| 3 | g.38580973A>G | CA433135046 | SCN5A | c.3186T>C (p.Asp1062=) c.3057T>C (p.Asp1019=) | |
| 3 | g.38580973A>T | CA352139114 | SCN5A | c.3186T>A (p.Asp1062Glu) c.3057T>A (p.Asp1019Glu) | ClinVar dbSNP |
| 3 | g.38580974T>A | CA352139116 | SCN5A | c.3185A>T (p.Asp1062Val) c.3056A>T (p.Asp1019Val) | |
| 3 | g.38580974T>C | CA352139118 | SCN5A | c.3185A>G (p.Asp1062Gly) c.3056A>G (p.Asp1019Gly) | |
| 3 | g.38580974T>G | CA352139119 | SCN5A | c.3185A>C (p.Asp1062Ala) c.3056A>C (p.Asp1019Ala) | |
| 3 | g.38580974T= | CA1358576193 | SCN5A | c.3185A= (p.Asp1062=) c.3056A= (p.Asp1019=) | |
| 3 | g.38580975C>A | CA352139123 | SCN5A | c.3184G>T (p.Asp1062Tyr) c.3055G>T (p.Asp1019Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38580975C= | CA1358576200 | SCN5A | c.3184G= (p.Asp1062=) c.3055G= (p.Asp1019=) | |
| 3 | g.38580975C>G | CA061346 | SCN5A | c.3184G>C (p.Asp1062His) c.3055G>C (p.Asp1019His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38580975C>T | CA352139120 | SCN5A | c.3184G>A (p.Asp1062Asn) c.3055G>A (p.Asp1019Asn) | dbSNP gnomAD v4 |
| 3 | g.38580975dup | CA916873504 | SCN5A | c.3184dup (p.Asp1062GlyfsTer2) c.3055dup (p.Asp1019GlyfsTer2) | ClinVar dbSNP |
| 3 | g.38580976T>A | CA352139126 | SCN5A | c.3183A>T (p.Glu1061Asp) c.3054A>T (p.Glu1018Asp) | dbSNP |
| 3 | g.38580976T>C | CA016886 | SCN5A | c.3183A>G (p.Glu1061=) c.3054A>G (p.Glu1018=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580976T>G | CA061337 | SCN5A | c.3183A>C (p.Glu1061Asp) c.3054A>C (p.Glu1018Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580976T= | CA1358576209 | SCN5A | c.3183A= (p.Glu1061=) c.3054A= (p.Glu1018=) | |
| 3 | g.38580977T>A | CA352139128 | SCN5A | c.3182A>T (p.Glu1061Val) c.3053A>T (p.Glu1018Val) | |
| 3 | g.38580977T>C | CA352139130 | SCN5A | c.3182A>G (p.Glu1061Gly) c.3053A>G (p.Glu1018Gly) | |
| 3 | g.38580977T>G | CA352139132 | SCN5A | c.3182A>C (p.Glu1061Ala) c.3053A>C (p.Glu1018Ala) | |
| 3 | g.38580978C>A | CA352139134 | SCN5A | c.3181G>T (p.Glu1061Ter) c.3052G>T (p.Glu1018Ter) | dbSNP gnomAD v4 |
| 3 | g.38580978C= | CA1358576214 | SCN5A | c.3181G= (p.Glu1061=) c.3052G= (p.Glu1018=) | |
| 3 | g.38580978C>G | CA352139136 | SCN5A | c.3181G>C (p.Glu1061Gln) c.3052G>C (p.Glu1018Gln) | |
| 3 | g.38580978C>T | CA352139138 | SCN5A | c.3181G>A (p.Glu1061Lys) c.3052G>A (p.Glu1018Lys) | |
| 3 | g.38580979T>A | CA352139140 | SCN5A | c.3180A>T (p.Glu1060Asp) c.3051A>T (p.Glu1017Asp) | |
| 3 | g.38580979T>C | CA433135063 | SCN5A | c.3180A>G (p.Glu1060=) c.3051A>G (p.Glu1017=) | |
| 3 | g.38580979T>G | CA352139141 | SCN5A | c.3180A>C (p.Glu1060Asp) c.3051A>C (p.Glu1017Asp) | |
| 3 | g.38580980T>A | CA352139143 | SCN5A | c.3179A>T (p.Glu1060Val) c.3050A>T (p.Glu1017Val) | |
| 3 | g.38580980T>C | CA352139145 | SCN5A | c.3179A>G (p.Glu1060Gly) c.3050A>G (p.Glu1017Gly) | |
| 3 | g.38580980T>G | CA352139147 | SCN5A | c.3179A>C (p.Glu1060Ala) c.3050A>C (p.Glu1017Ala) | |
| 3 | g.38580981C>A | CA352139152 | SCN5A | c.3178G>T (p.Glu1060Ter) c.3049G>T (p.Glu1017Ter) | dbSNP |
| 3 | g.38580981C= | CA1358576218 | SCN5A | c.3178G= (p.Glu1060=) c.3049G= (p.Glu1017=) | |
| 3 | g.38580981C>G | CA352139149 | SCN5A | c.3178G>C (p.Glu1060Gln) c.3049G>C (p.Glu1017Gln) | |
| 3 | g.38580981C>T | CA352139150 | SCN5A | c.3178G>A (p.Glu1060Lys) c.3049G>A (p.Glu1017Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38580982T>A | CA352139154 | SCN5A | c.3177A>T (p.Gln1059His) c.3048A>T (p.Gln1016His) | |
| 3 | g.38580982T>C | CA433135075 | SCN5A | c.3177A>G (p.Gln1059=) c.3048A>G (p.Gln1016=) | |
| 3 | g.38580982T>G | CA352139155 | SCN5A | c.3177A>C (p.Gln1059His) c.3048A>C (p.Gln1016His) | |
| 3 | g.38580983T>A | CA352139156 | SCN5A | c.3176A>T (p.Gln1059Leu) c.3047A>T (p.Gln1016Leu) | |
| 3 | g.38580983T>C | CA352139158 | SCN5A | c.3176A>G (p.Gln1059Arg) c.3047A>G (p.Gln1016Arg) | |
| 3 | g.38580983T>G | CA352139159 | SCN5A | c.3176A>C (p.Gln1059Pro) c.3047A>C (p.Gln1016Pro) | |
| 3 | g.38580984G>A | CA352139161 | SCN5A | c.3175C>T (p.Gln1059Ter) c.3046C>T (p.Gln1016Ter) | ClinVar dbSNP |
| 3 | g.38580984G>C | CA352139163 | SCN5A | c.3175C>G (p.Gln1059Glu) c.3046C>G (p.Gln1016Glu) | |
| 3 | g.38580984G>T | CA352139165 | SCN5A | c.3175C>A (p.Gln1059Lys) c.3046C>A (p.Gln1016Lys) |