| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847860C>G | CA006546 | KCNQ1,KCNQ1-AS1 | c.1531C>G (p.Pro511Ala) c.1888C>G (p.Pro630Ala) c.1507C>G (p.Pro503Ala) c.292C>G (p.Pro98Ala) n.395C>G n.778-7418G>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.2847860C>A | CA033609 | KCNQ1,KCNQ1-AS1 | c.1531C>A (p.Pro511Thr) c.1888C>A (p.Pro630Thr) c.1507C>A (p.Pro503Thr) c.292C>A (p.Pro98Thr) n.395C>A n.778-7418G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847860C>T | CA216345218 | KCNQ1,KCNQ1-AS1 | c.1531C>T (p.Pro511Ser) c.1888C>T (p.Pro630Ser) c.1507C>T (p.Pro503Ser) c.292C>T (p.Pro98Ser) n.395C>T n.778-7418G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |