Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166242548A>CCA349070189SCN1A-AS1,SCN9Ac.3581T>G (p.Phe1194Cys)
c.3548T>G (p.Phe1183Cys)
n.612-5647A>C
c.3194T>G (p.Phe1065Cys)
c.2837T>G (p.Phe946Cys)
2g.166242548A>GCA349070191SCN1A-AS1,SCN9Ac.3581T>C (p.Phe1194Ser)
c.3548T>C (p.Phe1183Ser)
n.612-5647A>G
c.3194T>C (p.Phe1065Ser)
c.2837T>C (p.Phe946Ser)
gnomAD v4
2g.166242548A>TCA349070193SCN1A-AS1,SCN9Ac.3581T>A (p.Phe1194Tyr)
c.3548T>A (p.Phe1183Tyr)
n.612-5647A>T
c.3194T>A (p.Phe1065Tyr)
c.2837T>A (p.Phe946Tyr)
gnomAD v4
2g.166242549A>CCA349070199SCN1A-AS1,SCN9Ac.3580T>G (p.Phe1194Val)
c.3547T>G (p.Phe1183Val)
n.612-5646A>C
c.3193T>G (p.Phe1065Val)
c.2836T>G (p.Phe946Val)
2g.166242549A>GCA349070198SCN1A-AS1,SCN9Ac.3580T>C (p.Phe1194Leu)
c.3547T>C (p.Phe1183Leu)
n.612-5646A>G
c.3193T>C (p.Phe1065Leu)
c.2836T>C (p.Phe946Leu)
2g.166242549A>TCA349070195SCN1A-AS1,SCN9Ac.3580T>A (p.Phe1194Ile)
c.3547T>A (p.Phe1183Ile)
n.612-5646A>T
c.3193T>A (p.Phe1065Ile)
c.2836T>A (p.Phe946Ile)
2g.166242550C>ACA349070201SCN1A-AS1,SCN9Ac.3579G>T (p.Trp1193Cys)
c.3546G>T (p.Trp1182Cys)
n.612-5645C>A
c.3192G>T (p.Trp1064Cys)
c.2835G>T (p.Trp945Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242550C=CA1304945616SCN1A-AS1,SCN9Ac.3579G= (p.Trp1193=)
c.3546G= (p.Trp1182=)
n.612-5645C=
c.3192G= (p.Trp1064=)
c.2835G= (p.Trp945=)
2g.166242550C>GCA349070203SCN1A-AS1,SCN9Ac.3579G>C (p.Trp1193Cys)
c.3546G>C (p.Trp1182Cys)
n.612-5645C>G
c.3192G>C (p.Trp1064Cys)
c.2835G>C (p.Trp945Cys)
2g.166242550C>TCA349070207SCN1A-AS1,SCN9Ac.3579G>A (p.Trp1193Ter)
c.3546G>A (p.Trp1182Ter)
n.612-5645C>T
c.3192G>A (p.Trp1064Ter)
c.2835G>A (p.Trp945Ter)
dbSNP
2g.166242551C>ACA349070210SCN1A-AS1,SCN9Ac.3578G>T (p.Trp1193Leu)
c.3545G>T (p.Trp1182Leu)
n.612-5644C>A
c.3191G>T (p.Trp1064Leu)
c.2834G>T (p.Trp945Leu)
ClinVar gnomAD v4
2g.166242551C>GCA349070211SCN1A-AS1,SCN9Ac.3578G>C (p.Trp1193Ser)
c.3545G>C (p.Trp1182Ser)
n.612-5644C>G
c.3191G>C (p.Trp1064Ser)
c.2834G>C (p.Trp945Ser)
2g.166242551C>TCA349070214SCN1A-AS1,SCN9Ac.3578G>A (p.Trp1193Ter)
c.3545G>A (p.Trp1182Ter)
n.612-5644C>T
c.3191G>A (p.Trp1064Ter)
c.2834G>A (p.Trp945Ter)
2g.166242552A>CCA349070217SCN1A-AS1,SCN9Ac.3577T>G (p.Trp1193Gly)
c.3544T>G (p.Trp1182Gly)
n.612-5643A>C
c.3190T>G (p.Trp1064Gly)
c.2833T>G (p.Trp945Gly)
2g.166242552A>GCA349070222SCN1A-AS1,SCN9Ac.3577T>C (p.Trp1193Arg)
c.3544T>C (p.Trp1182Arg)
n.612-5643A>G
c.3190T>C (p.Trp1064Arg)
c.2833T>C (p.Trp945Arg)
2g.166242552A>TCA349070223SCN1A-AS1,SCN9Ac.3577T>A (p.Trp1193Arg)
c.3544T>A (p.Trp1182Arg)
n.612-5643A>T
c.3190T>A (p.Trp1064Arg)
c.2833T>A (p.Trp945Arg)
gnomAD v4
2g.166242553A=CA1304945618SCN1A-AS1,SCN9Ac.3576T= (p.Ser1192=)
c.3543T= (p.Ser1181=)
n.612-5642A=
c.3189T= (p.Ser1063=)
c.2832T= (p.Ser944=)
2g.166242553A>CCA349070225SCN1A-AS1,SCN9Ac.3576T>G (p.Ser1192Arg)
c.3543T>G (p.Ser1181Arg)
n.612-5642A>C
c.3189T>G (p.Ser1063Arg)
c.2832T>G (p.Ser944Arg)
2g.166242553A>GCA1944027SCN1A-AS1,SCN9Ac.3576T>C (p.Ser1192=)
c.3543T>C (p.Ser1181=)
n.612-5642A>G
c.3189T>C (p.Ser1063=)
c.2832T>C (p.Ser944=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242553A>TCA349070227SCN1A-AS1,SCN9Ac.3576T>A (p.Ser1192Arg)
c.3543T>A (p.Ser1181Arg)
n.612-5642A>T
c.3189T>A (p.Ser1063Arg)
c.2832T>A (p.Ser944Arg)
gnomAD v4
2g.166242554C>ACA349070231SCN1A-AS1,SCN9Ac.3575G>T (p.Ser1192Ile)
c.3542G>T (p.Ser1181Ile)
n.612-5641C>A
c.3188G>T (p.Ser1063Ile)
c.2831G>T (p.Ser944Ile)
gnomAD v4
2g.166242554C>GCA349070233SCN1A-AS1,SCN9Ac.3575G>C (p.Ser1192Thr)
c.3542G>C (p.Ser1181Thr)
n.612-5641C>G
c.3188G>C (p.Ser1063Thr)
c.2831G>C (p.Ser944Thr)
COSMIC COSMIC
2g.166242554C>TCA349070230SCN1A-AS1,SCN9Ac.3575G>A (p.Ser1192Asn)
c.3542G>A (p.Ser1181Asn)
n.612-5641C>T
c.3188G>A (p.Ser1063Asn)
c.2831G>A (p.Ser944Asn)
ClinVar dbSNP gnomAD v4
2g.166242555T>ACA349070237SCN1A-AS1,SCN9Ac.3574A>T (p.Ser1192Cys)
c.3541A>T (p.Ser1181Cys)
n.612-5640T>A
c.3187A>T (p.Ser1063Cys)
c.2830A>T (p.Ser944Cys)
2g.166242555T>CCA349070239SCN1A-AS1,SCN9Ac.3574A>G (p.Ser1192Gly)
c.3541A>G (p.Ser1181Gly)
n.612-5640T>C
c.3187A>G (p.Ser1063Gly)
c.2830A>G (p.Ser944Gly)
gnomAD v4
2g.166242555T>GCA349070242SCN1A-AS1,SCN9Ac.3574A>C (p.Ser1192Arg)
c.3541A>C (p.Ser1181Arg)
n.612-5640T>G
c.3187A>C (p.Ser1063Arg)
c.2830A>C (p.Ser944Arg)
2g.166242556G>ACA1944028SCN1A-AS1,SCN9Ac.3573C>T (p.His1191=)
c.3540C>T (p.His1180=)
n.612-5639G>A
c.3186C>T (p.His1062=)
c.2829C>T (p.His943=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242556G>CCA349070246SCN1A-AS1,SCN9Ac.3573C>G (p.His1191Gln)
c.3540C>G (p.His1180Gln)
n.612-5639G>C
c.3186C>G (p.His1062Gln)
c.2829C>G (p.His943Gln)
gnomAD v4
2g.166242556G=CA1304945621SCN1A-AS1,SCN9Ac.3573C= (p.His1191=)
c.3540C= (p.His1180=)
n.612-5639G=
c.3186C= (p.His1062=)
c.2829C= (p.His943=)
2g.166242556G>TCA349070248SCN1A-AS1,SCN9Ac.3573C>A (p.His1191Gln)
c.3540C>A (p.His1180Gln)
n.612-5639G>T
c.3186C>A (p.His1062Gln)
c.2829C>A (p.His943Gln)
2g.166242557T>ACA349070251SCN1A-AS1,SCN9Ac.3572A>T (p.His1191Leu)
c.3539A>T (p.His1180Leu)
n.612-5638T>A
c.3185A>T (p.His1062Leu)
c.2828A>T (p.His943Leu)
2g.166242557T>CCA349070253SCN1A-AS1,SCN9Ac.3572A>G (p.His1191Arg)
c.3539A>G (p.His1180Arg)
n.612-5638T>C
c.3185A>G (p.His1062Arg)
c.2828A>G (p.His943Arg)
gnomAD v4
2g.166242557T>GCA349070252SCN1A-AS1,SCN9Ac.3572A>C (p.His1191Pro)
c.3539A>C (p.His1180Pro)
n.612-5638T>G
c.3185A>C (p.His1062Pro)
c.2828A>C (p.His943Pro)
2g.166242558G>ACA349070254SCN1A-AS1,SCN9Ac.3571C>T (p.His1191Tyr)
c.3538C>T (p.His1180Tyr)
n.612-5637G>A
c.3184C>T (p.His1062Tyr)
c.2827C>T (p.His943Tyr)
gnomAD v4
2g.166242558G>CCA349070255SCN1A-AS1,SCN9Ac.3571C>G (p.His1191Asp)
c.3538C>G (p.His1180Asp)
n.612-5637G>C
c.3184C>G (p.His1062Asp)
c.2827C>G (p.His943Asp)
2g.166242558G>TCA349070256SCN1A-AS1,SCN9Ac.3571C>A (p.His1191Asn)
c.3538C>A (p.His1180Asn)
n.612-5637G>T
c.3184C>A (p.His1062Asn)
c.2827C>A (p.His943Asn)
2g.166242559T>ACA349070257SCN1A-AS1,SCN9Ac.3570A>T (p.Glu1190Asp)
c.3537A>T (p.Glu1179Asp)
n.612-5636T>A
c.3183A>T (p.Glu1061Asp)
c.2826A>T (p.Glu942Asp)
2g.166242559T>CCA429901306SCN1A-AS1,SCN9Ac.3570A>G (p.Glu1190=)
c.3537A>G (p.Glu1179=)
n.612-5636T>C
c.3183A>G (p.Glu1061=)
c.2826A>G (p.Glu942=)
gnomAD v4
2g.166242559T>GCA349070258SCN1A-AS1,SCN9Ac.3570A>C (p.Glu1190Asp)
c.3537A>C (p.Glu1179Asp)
n.612-5636T>G
c.3183A>C (p.Glu1061Asp)
c.2826A>C (p.Glu942Asp)
2g.166242560T>ACA349070267SCN1A-AS1,SCN9Ac.3569A>T (p.Glu1190Val)
c.3536A>T (p.Glu1179Val)
n.612-5635T>A
c.3182A>T (p.Glu1061Val)
c.2825A>T (p.Glu942Val)
gnomAD v4
2g.166242560T>CCA349070270SCN1A-AS1,SCN9Ac.3569A>G (p.Glu1190Gly)
c.3536A>G (p.Glu1179Gly)
n.612-5635T>C
c.3182A>G (p.Glu1061Gly)
c.2825A>G (p.Glu942Gly)
2g.166242560T>GCA349070262SCN1A-AS1,SCN9Ac.3569A>C (p.Glu1190Ala)
c.3536A>C (p.Glu1179Ala)
n.612-5635T>G
c.3182A>C (p.Glu1061Ala)
c.2825A>C (p.Glu942Ala)
gnomAD v4
2g.166242561C>ACA349070272SCN1A-AS1,SCN9Ac.3568G>T (p.Glu1190Ter)
c.3535G>T (p.Glu1179Ter)
n.612-5634C>A
c.3181G>T (p.Glu1061Ter)
c.2824G>T (p.Glu942Ter)
dbSNP gnomAD v4
2g.166242561C=CA1304945622SCN1A-AS1,SCN9Ac.3568G= (p.Glu1190=)
c.3535G= (p.Glu1179=)
n.612-5634C=
c.3181G= (p.Glu1061=)
c.2824G= (p.Glu942=)
2g.166242561C>GCA349070276SCN1A-AS1,SCN9Ac.3568G>C (p.Glu1190Gln)
c.3535G>C (p.Glu1179Gln)
n.612-5634C>G
c.3181G>C (p.Glu1061Gln)
c.2824G>C (p.Glu942Gln)
2g.166242561C>TCA349070274SCN1A-AS1,SCN9Ac.3568G>A (p.Glu1190Lys)
c.3535G>A (p.Glu1179Lys)
n.612-5634C>T
c.3181G>A (p.Glu1061Lys)
c.2824G>A (p.Glu942Lys)
2g.166242562A>CCA429901312SCN1A-AS1,SCN9Ac.3567T>G (p.Val1189=)
c.3534T>G (p.Val1178=)
n.612-5633A>C
c.3180T>G (p.Val1060=)
c.2823T>G (p.Val941=)
2g.166242562A>GCA429901313SCN1A-AS1,SCN9Ac.3567T>C (p.Val1189=)
c.3534T>C (p.Val1178=)
n.612-5633A>G
c.3180T>C (p.Val1060=)
c.2823T>C (p.Val941=)
2g.166242562A>TCA429901315SCN1A-AS1,SCN9Ac.3567T>A (p.Val1189=)
c.3534T>A (p.Val1178=)
n.612-5633A>T
c.3180T>A (p.Val1060=)
c.2823T>A (p.Val941=)
2g.166242563A=CA1304945623SCN1A-AS1,SCN9Ac.3566T= (p.Val1189=)
c.3533T= (p.Val1178=)
n.612-5632A=
c.3179T= (p.Val1060=)
c.2822T= (p.Val941=)

Number of alleles fetched