| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54625068C>T | CA270091 | RP1 | c.1186C>T (p.Arg396Ter) c.787+2780C>T (n.787+2780C>T) c.1207C>T (p.Arg403Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625068C= | CA1785187731 | RP1 | c.1186C= (p.Arg396=) c.787+2780C= (n.787+2780C=) c.1207C= (p.Arg403=) | dbSNP |