| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54625917C>T | CA253667 | RP1 | c.2035C>T (p.Gln679Ter) c.787+3629C>T (n.787+3629C>T) c.2056C>T (p.Gln686Ter) | ClinVar dbSNP |
| 8 | g.54625917C>A | CA370992582 | RP1 | c.2035C>A (p.Gln679Lys) c.787+3629C>A (n.787+3629C>A) c.2056C>A (p.Gln686Lys) | dbSNP |
| 8 | g.54625917C= | CA1785188085 | RP1 | c.2035C= (p.Gln679=) c.787+3629C= (n.787+3629C=) c.2056C= (p.Gln686=) | dbSNP |