| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132971804T>A | CA210702 | TG | c.5986T>A (p.Cys1996Ser) c.1352T>A c.448T>A (p.Cys150Ser) n.95T>A n.123T>A c.2641T>A c.5794T>A (p.Cys1932Ser) c.5920T>A (p.Cys1974Ser) c.5815T>A (p.Cys1939Ser) c.5767T>A (p.Cys1923Ser) c.5725T>A (p.Cys1909Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132971804T= | CA1821005033 | TG | c.5986T= (p.Cys1996=) c.1352T= c.448T= (p.Cys150=) n.95T= n.123T= c.2641T= c.5794T= (p.Cys1932=) c.5920T= (p.Cys1974=) c.5815T= (p.Cys1939=) c.5767T= (p.Cys1923=) c.5725T= (p.Cys1909=) | dbSNP |