| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129533711C>A | CA256694 | RHO | c.1040C>A (p.Pro347Gln) | ClinVar dbSNP |
| 3 | g.129533711C>T | CA256662 | RHO | c.1040C>T (p.Pro347Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129533711C>G | CA256678 | RHO | c.1040C>G (p.Pro347Arg) | ClinVar dbSNP |
| 3 | g.129533711C= | CA1401213465 | RHO | c.1040C= (p.Pro347=) | dbSNP |