| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54626497G>A | CA180400 | RP1 | c.2615G>A (p.Arg872His) c.787+4209G>A (n.787+4209G>A) c.2636G>A (p.Arg879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626497G>T | CA370994240 | RP1 | c.2615G>T (p.Arg872Leu) c.787+4209G>T (n.787+4209G>T) c.2636G>T (p.Arg879Leu) | dbSNP gnomAD v4 |
| 8 | g.54626497G= | CA1785188348 | RP1 | c.2615G= (p.Arg872=) c.787+4209G= (n.787+4209G=) c.2636G= (p.Arg879=) | dbSNP |