Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129533704G>T | CA354471268 | RHO | c.1033G>T (p.Val345Leu) | ClinVar dbSNP |
3 | g.129533704G>A | CA256697 | RHO | c.1033G>A (p.Val345Met) | ClinVar dbSNP |
3 | g.129533704G>C | CA256693 | RHO | c.1033G>C (p.Val345Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.129533704G= | CA1401213411 | RHO | c.1033G= (p.Val345=) | dbSNP |