| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26477725C>A | CA345101 | OTOF | c.2239G>T (p.Glu747Ter) c.-3G>T (n.-3G>T) c.169G>T (p.Glu57Ter) c.2284G>T (p.Glu762Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26477725C>T | CA346124019 | OTOF | c.2239G>A (p.Glu747Lys) c.-3G>A (n.-3G>A) c.169G>A (p.Glu57Lys) c.2284G>A (p.Glu762Lys) | dbSNP gnomAD v3 gnomAD v4 |