| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26482516G>A | CA44401598 | OTOF | c.1469C>T (p.Pro490Leu) c.1514C>T (p.Pro505Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482516G>T | CA342559 | OTOF | c.1469C>A (p.Pro490Gln) c.1514C>A (p.Pro505Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26482516G>C | CA142742 | OTOF | c.1469C>G (p.Pro490Arg) c.1514C>G (p.Pro505Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |