| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26474532G>A | CA1563614 | OTOF | c.3269C>T (p.Ala1090Val) c.1028C>T (p.Ala343Val) c.1199C>T (p.Ala400Val) c.3314C>T (p.Ala1105Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26474532G>T | CA345115 | OTOF | c.3269C>A (p.Ala1090Glu) c.1028C>A (p.Ala343Glu) c.1199C>A (p.Ala400Glu) c.3314C>A (p.Ala1105Glu) | ClinVar dbSNP gnomAD v4 |