| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572862T>C | CA008262 | KCNQ1 | c.536T>C (p.Leu179Pro) c.478-10573T>C (n.478-10573T>C) c.797T>C (p.Leu266Pro) c.416T>C (p.Leu139Pro) c.124-10573T>C (n.124-10573T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572862T>G | CA16606299 | KCNQ1 | c.536T>G (p.Leu179Arg) c.478-10573T>G (n.478-10573T>G) c.797T>G (p.Leu266Arg) c.416T>G (p.Leu139Arg) c.124-10573T>G (n.124-10573T>G) | ClinVar dbSNP |