Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51705423C>T | CA16043858 | SCN8A | c.1141C>T (p.Arg381Ter) n.1269C>T c.691C>T (p.Arg231Ter) | ClinVar dbSNP |
12 | g.51705423C= | CA2036166316 | SCN8A | c.1141C= (p.Arg381=) n.1269C= c.691C= (p.Arg231=) | dbSNP |