| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166228871delinsAA | CA171010 | SCN1A-AS1,SCN9A | c.4026delinsTT (p.Leu1342PhefsTer8) c.3870delinsTT (p.Leu1290PhefsTer8) c.3993delinsTT (p.Leu1331PhefsTer8) n.612-19324delinsAA c.3639delinsTT (p.Leu1213PhefsTer8) c.3282delinsTT (p.Leu1094PhefsTer8) | ClinVar dbSNP |
| 2 | g.166228871C= | CA1304943688 | SCN1A-AS1,SCN9A | c.4026G= (p.Leu1342=) c.3870G= (p.Leu1290=) c.3993G= (p.Leu1331=) n.612-19324C= c.3639G= (p.Leu1213=) c.3282G= (p.Leu1094=) | dbSNP dbSNP |