Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129533701C>G | CA354471262 | RHO | c.1030C>G (p.Gln344Glu) | ClinVar dbSNP |
3 | g.129533701C>T | CA256675 | RHO | c.1030C>T (p.Gln344Ter) | ClinVar dbSNP |
3 | g.129533701C= | CA1401213385 | RHO | c.1030C= (p.Gln344=) | dbSNP |
3 | g.129533701C>A | CA354471261 | RHO | c.1030C>A (p.Gln344Lys) | dbSNP gnomAD v4 |