| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2775985G>A | CA006001 | KCNQ1 | c.1259G>A (p.Arg420Gln) c.1076G>A (p.Arg359Gln) c.1616G>A (p.Arg539Gln) c.1235G>A (p.Arg412Gln) c.722G>A (p.Arg241Gln) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2775985G>C | CA379139108 | KCNQ1 | c.1259G>C (p.Arg420Pro) c.1076G>C (p.Arg359Pro) c.1616G>C (p.Arg539Pro) c.1235G>C (p.Arg412Pro) c.722G>C (p.Arg241Pro) | dbSNP gnomAD v2 |