| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583471C>T | CA008910 | KCNQ1 | c.697C>T (p.Pro233Ser) c.514C>T (p.Pro172Ser) c.958C>T (p.Pro320Ser) c.577C>T (p.Pro193Ser) c.160C>T (p.Pro54Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583471C>G | CA008901 | KCNQ1 | c.697C>G (p.Pro233Ala) c.514C>G (p.Pro172Ala) c.958C>G (p.Pro320Ala) c.577C>G (p.Pro193Ala) c.160C>G (p.Pro54Ala) | ClinVar dbSNP |