| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80339228C>T | CA6701569 | OTOGL | c.5014C>T (p.Arg1672Ter) c.4879C>T (p.Arg1627Ter) c.315C>T c.4987C>T (p.Arg1663Ter) c.4951C>T (p.Arg1651Ter) c.5038C>T (p.Arg1680Ter) c.4885C>T (p.Arg1629Ter) c.4672C>T (p.Arg1558Ter) c.4852C>T (p.Arg1618Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 12 | g.80339228C= | CA2049199534 | OTOGL | c.5014C= (p.Arg1672=) c.4879C= (p.Arg1627=) c.315C= c.4987C= (p.Arg1663=) c.4951C= (p.Arg1651=) c.5038C= (p.Arg1680=) c.4885C= (p.Arg1629=) c.4672C= (p.Arg1558=) c.4852C= (p.Arg1618=) | dbSNP |