| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26468468G>A | CA16609559 | OTOF | c.4030C>T (p.Arg1344Ter) c.1729C>T (p.Arg577Ter) c.1789C>T (p.Arg597Ter) c.1960C>T (p.Arg654Ter) c.4015C>T (p.Arg1339Ter) c.4075C>T (p.Arg1359Ter) c.3970C>T (p.Arg1324Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26468468G>T | CA425207544 | OTOF | c.4030C>A (p.Arg1344=) c.1729C>A (p.Arg577=) c.1789C>A (p.Arg597=) c.1960C>A (p.Arg654=) c.4015C>A (p.Arg1339=) c.4075C>A (p.Arg1359=) c.3970C>A (p.Arg1324=) | dbSNP gnomAD v4 |
| 2 | g.26468468G= | CA1239819216 | OTOF | c.4030C= (p.Arg1344=) c.1729C= (p.Arg577=) c.1789C= (p.Arg597=) c.1960C= (p.Arg654=) c.4015C= (p.Arg1339=) c.4075C= (p.Arg1359=) c.3970C= (p.Arg1324=) | dbSNP |
| 2 | g.26468468G>C | CA346137640 | OTOF | c.4030C>G (p.Arg1344Gly) c.1729C>G (p.Arg577Gly) c.1789C>G (p.Arg597Gly) c.1960C>G (p.Arg654Gly) c.4015C>G (p.Arg1339Gly) c.4075C>G (p.Arg1359Gly) c.3970C>G (p.Arg1324Gly) | dbSNP gnomAD v4 |