| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40838474C>T | CA347366 | KCNQ4 | c.2039C>T (p.Ser680Phe) c.1620C>T n.1358C>T c.1877C>T (p.Ser626Phe) c.1022C>T (p.Ser341Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40838474C= | CA1164553130 | KCNQ4 | c.2039C= (p.Ser680=) c.1620C= n.1358C= c.1877C= (p.Ser626=) c.1022C= (p.Ser341=) | dbSNP |
| 1 | g.40838474C>G | CA339891467 | KCNQ4 | c.2039C>G (p.Ser680Cys) c.1620C>G n.1358C>G c.1877C>G (p.Ser626Cys) c.1022C>G (p.Ser341Cys) | dbSNP gnomAD v4 |