| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2571363G>T | CA379130540 | KCNQ1 | c.382G>T (p.Val128Leu) c.478-12072G>T (n.478-12072G>T) c.643G>T (p.Val215Leu) c.262G>T (p.Val88Leu) c.124-12072G>T (n.124-12072G>T) | dbSNP gnomAD v2 |
| 11 | g.2571363G>A | CA007820 | KCNQ1 | c.382G>A (p.Val128Met) c.478-12072G>A (n.478-12072G>A) c.643G>A (p.Val215Met) c.262G>A (p.Val88Met) c.124-12072G>A (n.124-12072G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2571363G= | CA1948241532 | KCNQ1 | c.382G= (p.Val128=) c.478-12072G= (n.478-12072G=) c.643G= (p.Val215=) c.262G= (p.Val88=) c.124-12072G= (n.124-12072G=) | dbSNP |