| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71211215T>C | CA119164 | EYA1 | c.1639A>G (p.Arg547Gly) c.1537A>G (p.Arg513Gly) c.1534A>G (p.Arg512Gly) c.*918A>G (n.*918A>G) n.2102A>G c.*1316A>G (n.*1316A>G) c.1726A>G (p.Arg576Gly) c.1621A>G (p.Arg541Gly) n.709A>G c.1618A>G (p.Arg540Gly) c.1540A>G (p.Arg514Gly) c.1636A>G (p.Arg546Gly) n.2134A>G c.1273A>G (p.Arg425Gly) c.1711A>G (p.Arg571Gly) c.1624A>G (p.Arg542Gly) c.1576A>G (p.Arg526Gly) c.1288A>G (p.Arg430Gly) c.1723A>G (p.Arg575Gly) c.1708A>G (p.Arg570Gly) | ClinVar dbSNP |
| 8 | g.71211215T= | CA1792681633 | EYA1 | c.1639A= (p.Arg547=) c.1537A= (p.Arg513=) c.1534A= (p.Arg512=) c.*918A= (n.*918A=) n.2102A= c.*1316A= (n.*1316A=) c.1726A= (p.Arg576=) c.1621A= (p.Arg541=) n.709A= c.1618A= (p.Arg540=) c.1540A= (p.Arg514=) c.1636A= (p.Arg546=) n.2134A= c.1273A= (p.Arg425=) c.1711A= (p.Arg571=) c.1624A= (p.Arg542=) c.1576A= (p.Arg526=) c.1288A= (p.Arg430=) c.1723A= (p.Arg575=) c.1708A= (p.Arg570=) | dbSNP |