Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133352074A>C | CA122695 | SURF1 | c.820T>G (p.Tyr274Asp) n.730T>G n.810T>G c.493T>G (p.Tyr165Asp) | ClinVar dbSNP |
9 | g.133352074A>G | CA375693451 | SURF1 | c.820T>C (p.Tyr274His) n.730T>C n.810T>C c.493T>C (p.Tyr165His) | dbSNP gnomAD v4 |
9 | g.133352074A= | CA1882633143 | SURF1 | c.820T= (p.Tyr274=) n.730T= n.810T= c.493T= (p.Tyr165=) | dbSNP |