| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26466723A>T | CA340522 | OTOF | c.4491T>A (p.Tyr1497Ter) c.2190T>A (p.Tyr730Ter) c.2250T>A (p.Tyr750Ter) c.2421T>A (p.Tyr807Ter) c.4476T>A (p.Tyr1492Ter) c.4536T>A (p.Tyr1512Ter) c.4431T>A (p.Tyr1477Ter) | ClinVar dbSNP |
| 2 | g.26466723A= | CA1239817536 | OTOF | c.4491T= (p.Tyr1497=) c.2190T= (p.Tyr730=) c.2250T= (p.Tyr750=) c.2421T= (p.Tyr807=) c.4476T= (p.Tyr1492=) c.4536T= (p.Tyr1512=) c.4431T= (p.Tyr1477=) | dbSNP |
| 2 | g.26466723A>C | CA346136213 | OTOF | c.4491T>G (p.Tyr1497Ter) c.2190T>G (p.Tyr730Ter) c.2250T>G (p.Tyr750Ter) c.2421T>G (p.Tyr807Ter) c.4476T>G (p.Tyr1492Ter) c.4536T>G (p.Tyr1512Ter) c.4431T>G (p.Tyr1477Ter) | dbSNP gnomAD v4 |