| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461854C>T | CA236032 | OTOF | c.5375G>A (p.Arg1792His) c.3074G>A (p.Arg1025His) c.3134G>A (p.Arg1045His) c.3305G>A (p.Arg1102His) c.5360G>A (p.Arg1787His) c.5420G>A (p.Arg1807His) c.5315G>A (p.Arg1772His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461854C= | CA1239825465 | OTOF | c.5375G= (p.Arg1792=) c.3074G= (p.Arg1025=) c.3134G= (p.Arg1045=) c.3305G= (p.Arg1102=) c.5360G= (p.Arg1787=) c.5420G= (p.Arg1807=) c.5315G= (p.Arg1772=) | dbSNP |
| 2 | g.26461854C>G | CA346131585 | OTOF | c.5375G>C (p.Arg1792Pro) c.3074G>C (p.Arg1025Pro) c.3134G>C (p.Arg1045Pro) c.3305G>C (p.Arg1102Pro) c.5360G>C (p.Arg1787Pro) c.5420G>C (p.Arg1807Pro) c.5315G>C (p.Arg1772Pro) | dbSNP |