Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947347G>T | CA369852534 | KCNH2 | n.3966C>A c.3133C>A (p.Leu1045Ile) c.2113C>A (p.Leu705Ile) c.2833C>A (p.Leu945Ile) c.2983C>A (p.Leu995Ile) c.2956C>A (p.Leu986Ile) | dbSNP gnomAD v4 |
7 | g.150947347G>A | CA008015 | KCNH2 | n.3966C>T c.3133C>T (p.Leu1045Phe) c.2113C>T (p.Leu705Phe) c.2833C>T (p.Leu945Phe) c.2983C>T (p.Leu995Phe) c.2956C>T (p.Leu986Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |