| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.133029907G>A | CA210709 | TG | c.7123G>A (p.Gly2375Arg) c.509G>A c.2489G>A c.1522G>A (p.Gly508Arg) c.3778G>A c.6931G>A (p.Gly2311Arg) c.7060G>A (p.Gly2354Arg) c.7057G>A (p.Gly2353Arg) c.6952G>A (p.Gly2318Arg) c.6904G>A (p.Gly2302Arg) c.6862G>A (p.Gly2288Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133029907G= | CA1821060319 | TG | c.7123G= (p.Gly2375=) c.509G= c.2489G= c.1522G= (p.Gly508=) c.3778G= c.6931G= (p.Gly2311=) c.7060G= (p.Gly2354=) c.7057G= (p.Gly2353=) c.6952G= (p.Gly2318=) c.6904G= (p.Gly2302=) c.6862G= (p.Gly2288=) | dbSNP |
| 8 | g.133029907G>C | CA372238177 | TG | c.7123G>C (p.Gly2375Arg) c.509G>C c.2489G>C c.1522G>C (p.Gly508Arg) c.3778G>C c.6931G>C (p.Gly2311Arg) c.7060G>C (p.Gly2354Arg) c.7057G>C (p.Gly2353Arg) c.6952G>C (p.Gly2318Arg) c.6904G>C (p.Gly2302Arg) c.6862G>C (p.Gly2288Arg) | dbSNP gnomAD v4 |