| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.46853726G>C | CA413039373 | RP2 | c.353G>C (p.Arg118Pro) | ClinVar dbSNP |
| X | g.46853726G>T | CA255304 | RP2 | c.353G>T (p.Arg118Leu) | ClinVar dbSNP |
| X | g.46853726G>A | CA255301 | RP2 | c.353G>A (p.Arg118His) | ClinVar dbSNP gnomAD v4 |
| X | g.46853726G= | CA2427731417 | RP2 | c.353G= (p.Arg118=) | dbSNP dbSNP |