| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232534290A>G | CA355015 | CHRND | c.1319A>G (p.Asp440Gly) c.*501A>G (n.*501A>G) c.*960A>G (n.*960A>G) c.1274A>G (p.Asp425Gly) c.737A>G (p.Asp246Gly) c.1016A>G (p.Asp339Gly) c.-4294966232A>G c.-4294965953A>G c.938A>G (p.Asp313Gly) | ClinVar dbSNP |
| 2 | g.232534290A>T | CA2168322 | CHRND | c.1319A>T (p.Asp440Val) c.*501A>T (n.*501A>T) c.*960A>T (n.*960A>T) c.1274A>T (p.Asp425Val) c.737A>T (p.Asp246Val) c.1016A>T (p.Asp339Val) c.-4294966232A>T c.-4294965953A>T c.938A>T (p.Asp313Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |