| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26465020G>T | CA345127 | OTOF | c.4809C>A (p.Tyr1603Ter) c.2508C>A (p.Tyr836Ter) c.2568C>A (p.Tyr856Ter) c.2739C>A (p.Tyr913Ter) n.558C>A c.4794C>A (p.Tyr1598Ter) c.4854C>A (p.Tyr1618Ter) c.4749C>A (p.Tyr1583Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26465020G>A | CA1563023 | OTOF | c.4809C>T (p.Tyr1603=) c.2508C>T (p.Tyr836=) c.2568C>T (p.Tyr856=) c.2739C>T (p.Tyr913=) n.558C>T c.4794C>T (p.Tyr1598=) c.4854C>T (p.Tyr1618=) c.4749C>T (p.Tyr1583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |