| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132967797G>A | CA210710 | TG | c.5690G>A (p.Cys1897Tyr) c.85G>A c.1056G>A c.152G>A (p.Cys51Tyr) c.2345G>A c.5498G>A (p.Cys1833Tyr) c.5624G>A (p.Cys1875Tyr) c.5519G>A (p.Cys1840Tyr) c.5471G>A (p.Cys1824Tyr) c.5429G>A (p.Cys1810Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132967797G= | CA1821000844 | TG | c.5690G= (p.Cys1897=) c.85G= c.1056G= c.152G= (p.Cys51=) c.2345G= c.5498G= (p.Cys1833=) c.5624G= (p.Cys1875=) c.5519G= (p.Cys1840=) c.5471G= (p.Cys1824=) c.5429G= (p.Cys1810=) | dbSNP |