| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26475453A>G | CA117972 | OTOF | c.3032T>C (p.Leu1011Pro) c.791T>C (p.Leu264Pro) c.962T>C (p.Leu321Pro) c.3077T>C (p.Leu1026Pro) | ClinVar dbSNP |
| 2 | g.26475453A= | CA1239827166 | OTOF | c.3032T= (p.Leu1011=) c.791T= (p.Leu264=) c.962T= (p.Leu321=) c.3077T= (p.Leu1026=) | dbSNP |