| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947340C>T | CA369852511 | KCNH2 | n.3973G>A c.3140G>A (p.Arg1047His) c.2120G>A (p.Arg707His) c.2840G>A (p.Arg947His) c.2990G>A (p.Arg997His) c.2963G>A (p.Arg988His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947340C>A | CA008041 | KCNH2 | n.3973G>T c.3140G>T (p.Arg1047Leu) c.2120G>T (p.Arg707Leu) c.2840G>T (p.Arg947Leu) c.2990G>T (p.Arg997Leu) c.2963G>T (p.Arg988Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947340C>G | CA369852510 | KCNH2 | n.3973G>C c.3140G>C (p.Arg1047Pro) c.2120G>C (p.Arg707Pro) c.2840G>C (p.Arg947Pro) c.2990G>C (p.Arg997Pro) c.2963G>C (p.Arg988Pro) | dbSNP |
| 7 | g.150947340C= | CA1752428387 | KCNH2 | n.3973G= c.3140G= (p.Arg1047=) c.2120G= (p.Arg707=) c.2840G= (p.Arg947=) c.2990G= (p.Arg997=) c.2963G= (p.Arg988=) | dbSNP |