| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570664G>C | CA379129862 | KCNQ1 | c.253G>C (p.Val85Leu) c.478-12771G>C (n.478-12771G>C) c.514G>C (p.Val172Leu) c.133G>C (p.Val45Leu) c.124-12771G>C (n.124-12771G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570664G>A | CA007311 | KCNQ1 | c.253G>A (p.Val85Met) c.478-12771G>A (n.478-12771G>A) c.514G>A (p.Val172Met) c.133G>A (p.Val45Met) c.124-12771G>A (n.124-12771G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |