| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.23604491C>A | CA351634 | SOX5 | c.1021G>T (p.Gly341Ter) c.916G>T (p.Gly306Ter) c.1060G>T (p.Gly354Ter) c.1030G>T (p.Gly344Ter) n.384G>T n.440G>T n.285G>T c.955G>T (p.Gly319Ter) n.92G>T c.1063G>T (p.Gly355Ter) c.1033G>T (p.Gly345Ter) c.1024G>T (p.Gly342Ter) c.958G>T (p.Gly320Ter) c.226G>T (p.Gly76Ter) c.16G>T (p.Gly6Ter) c.1150G>T (p.Gly384Ter) c.1147G>T (p.Gly383Ter) c.919G>T (p.Gly307Ter) | ClinVar dbSNP |
| 12 | g.23604491C= | CA2022130046 | SOX5 | c.1021G= (p.Gly341=) c.916G= (p.Gly306=) c.1060G= (p.Gly354=) c.1030G= (p.Gly344=) n.384G= n.440G= n.285G= c.955G= (p.Gly319=) n.92G= c.1063G= (p.Gly355=) c.1033G= (p.Gly345=) c.1024G= (p.Gly342=) c.958G= (p.Gly320=) c.226G= (p.Gly76=) c.16G= (p.Gly6=) c.1150G= (p.Gly384=) c.1147G= (p.Gly383=) c.919G= (p.Gly307=) | dbSNP |