| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847899G>T | CA379140447 | KCNQ1,KCNQ1-AS1 | c.1570G>T (p.Gly524Cys) c.1927G>T (p.Gly643Cys) c.1546G>T (p.Gly516Cys) c.331G>T (p.Gly111Cys) n.434G>T n.778-7457C>A | dbSNP gnomAD v4 |
| 11 | g.2847899G>A | CA006598 | KCNQ1,KCNQ1-AS1 | c.1570G>A (p.Gly524Ser) c.1927G>A (p.Gly643Ser) c.1546G>A (p.Gly516Ser) c.331G>A (p.Gly111Ser) n.434G>A n.778-7457C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |