| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26466018C>T | CA342573 | OTOF | c.4559G>A (p.Arg1520Gln) c.2258G>A (p.Arg753Gln) c.2318G>A (p.Arg773Gln) c.2489G>A (p.Arg830Gln) n.308G>A c.4544G>A (p.Arg1515Gln) c.4604G>A (p.Arg1535Gln) c.4499G>A (p.Arg1500Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26466018C>A | CA346136048 | OTOF | c.4559G>T (p.Arg1520Leu) c.2258G>T (p.Arg753Leu) c.2318G>T (p.Arg773Leu) c.2489G>T (p.Arg830Leu) n.308G>T c.4544G>T (p.Arg1515Leu) c.4604G>T (p.Arg1535Leu) c.4499G>T (p.Arg1500Leu) | dbSNP gnomAD v4 |
| 2 | g.26466018C= | CA1239816934 | OTOF | c.4559G= (p.Arg1520=) c.2258G= (p.Arg753=) c.2318G= (p.Arg773=) c.2489G= (p.Arg830=) n.308G= c.4544G= (p.Arg1515=) c.4604G= (p.Arg1535=) c.4499G= (p.Arg1500=) | dbSNP |