| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461897C>T | CA1562846 | OTOF | c.5332G>A (p.Val1778Ile) c.3031G>A (p.Val1011Ile) c.3091G>A (p.Val1031Ile) c.3262G>A (p.Val1088Ile) c.5317G>A (p.Val1773Ile) c.5377G>A (p.Val1793Ile) c.5272G>A (p.Val1758Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461897C>A | CA262047 | OTOF | c.5332G>T (p.Val1778Phe) c.3031G>T (p.Val1011Phe) c.3091G>T (p.Val1031Phe) c.3262G>T (p.Val1088Phe) c.5317G>T (p.Val1773Phe) c.5377G>T (p.Val1793Phe) c.5272G>T (p.Val1758Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |