| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572021G>T | CA379130913 | KCNQ1 | c.431G>T (p.Arg144Leu) c.478-11414G>T (n.478-11414G>T) c.692G>T (p.Arg231Leu) c.311G>T (p.Arg104Leu) c.124-11414G>T (n.124-11414G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572021G>A | CA007925 | KCNQ1 | c.431G>A (p.Arg144His) c.478-11414G>A (n.478-11414G>A) c.692G>A (p.Arg231His) c.311G>A (p.Arg104His) c.124-11414G>A (n.124-11414G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |