| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570718C>A | CA038456 | KCNQ1 | c.307C>A (p.Arg103=) c.478-12717C>A (n.478-12717C>A) c.568C>A (p.Arg190=) c.187C>A (p.Arg63=) c.124-12717C>A (n.124-12717C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570718C>T | CA007529 | KCNQ1 | c.307C>T (p.Arg103Trp) c.478-12717C>T (n.478-12717C>T) c.568C>T (p.Arg190Trp) c.187C>T (p.Arg63Trp) c.124-12717C>T (n.124-12717C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |