| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.5155513G>A | CA8321722 | USP6 | c.2735G>A (p.Arg912Gln) c.*262G>A (n.*262G>A) c.*1815G>A (n.*1815G>A) c.2669G>A (p.Arg890Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.5155513G= | CA2244747783 | USP6 | c.2735G= (p.Arg912=) c.*262G= (n.*262G=) c.*1815G= (n.*1815G=) c.2669G= (p.Arg890=) | dbSNP |