Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51794620G>C | CA155095 | SCN8A | c.4774G>C (p.Val1592Leu) c.2838G>C c.4651G>C (p.Val1551Leu) c.4807G>C (p.Val1603Leu) | ClinVar dbSNP |
12 | g.51794620G>A | CA384879341 | SCN8A | c.4774G>A (p.Val1592Ile) c.2838G>A c.4651G>A (p.Val1551Ile) c.4807G>A (p.Val1603Ile) | ClinVar dbSNP |