| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2777019C>T | CA472465310 | KCNQ1 | c.1362C>T (p.Phe454=) c.1179C>T (p.Phe393=) c.1719C>T (p.Phe573=) c.1338C>T (p.Phe446=) c.825C>T (p.Phe275=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2777019C>A | CA006277 | KCNQ1 | c.1362C>A (p.Phe454Leu) c.1179C>A (p.Phe393Leu) c.1719C>A (p.Phe573Leu) c.1338C>A (p.Phe446Leu) c.825C>A (p.Phe275Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |