| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570634G>A | CA007224 | KCNQ1 | c.223G>A (p.Val75Met) c.478-12801G>A (n.478-12801G>A) c.484G>A (p.Val162Met) c.103G>A (p.Val35Met) c.124-12801G>A (n.124-12801G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570634G>C | CA379129803 | KCNQ1 | c.223G>C (p.Val75Leu) c.478-12801G>C (n.478-12801G>C) c.484G>C (p.Val162Leu) c.103G>C (p.Val35Leu) c.124-12801G>C (n.124-12801G>C) | ClinVar dbSNP gnomAD v4 |