| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847914G>A | CA006603 | KCNQ1,KCNQ1-AS1 | c.1585G>A (p.Val529Ile) c.1942G>A (p.Val648Ile) c.1561G>A (p.Val521Ile) c.346G>A (p.Val116Ile) n.449G>A n.778-7472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847914G>C | CA379140477 | KCNQ1,KCNQ1-AS1 | c.1585G>C (p.Val529Leu) c.1942G>C (p.Val648Leu) c.1561G>C (p.Val521Leu) c.346G>C (p.Val116Leu) n.449G>C n.778-7472C>G | ClinVar dbSNP |