| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947623G>A | CA007674 | KCNH2 | n.3781C>T c.2948C>T (p.Thr983Ile) c.1928C>T (p.Thr643Ile) c.2648C>T (p.Thr883Ile) c.*28C>T (n.*28C>T) c.2798C>T (p.Thr933Ile) c.2771C>T (p.Thr924Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947623G= | CA1752429784 | KCNH2 | n.3781C= c.2948C= (p.Thr983=) c.1928C= (p.Thr643=) c.2648C= (p.Thr883=) c.*28C= (n.*28C=) c.2798C= (p.Thr933=) c.2771C= (p.Thr924=) | dbSNP |