| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2588726A>G | CA379134923 | KCNQ1 | c.908A>G (p.Lys303Arg) c.725A>G (p.Lys242Arg) c.1265A>G (p.Lys422Arg) c.884A>G (p.Lys295Arg) c.371A>G (p.Lys124Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2588726A>C | CA005552 | KCNQ1 | c.908A>C (p.Lys303Thr) c.725A>C (p.Lys242Thr) c.1265A>C (p.Lys422Thr) c.884A>C (p.Lys295Thr) c.371A>C (p.Lys124Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |