Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129530962G>C | CA2607161 | RHO | c.448G>C (p.Glu150Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129530962G>A | CA122824 | RHO | c.448G>A (p.Glu150Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129530962G= | CA1401209417 | RHO | c.448G= (p.Glu150=) | dbSNP |