| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947711G>A | CA007528 | KCNH2 | n.3693C>T c.2860C>T (p.Arg954Cys) c.1840C>T (p.Arg614Cys) c.2560C>T (p.Arg854Cys) c.2693-20C>T (n.2693-20C>T) c.2710C>T (p.Arg904Cys) c.2683C>T (p.Arg895Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947711G= | CA1752430092 | KCNH2 | n.3693C= c.2860C= (p.Arg954=) c.1840C= (p.Arg614=) c.2560C= (p.Arg854=) c.2693-20C= (n.2693-20C=) c.2710C= (p.Arg904=) c.2683C= (p.Arg895=) | dbSNP |