Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129530918G>A | CA2607152 | RHO | c.404G>A (p.Arg135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129530918G>C | CA354498057 | RHO | c.404G>C (p.Arg135Pro) | ClinVar dbSNP |
3 | g.129530918G>T | CA256671 | RHO | c.404G>T (p.Arg135Leu) | ClinVar dbSNP |
3 | g.129530918G= | CA1401209302 | RHO | c.404G= (p.Arg135=) | dbSNP |