| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38318909A>C | CA226418 | RPGR | n.799T>G c.389T>G (p.Phe130Cys) c.296T>G (p.Phe99Cys) c.172-347212A>C (n.172-347212A>C) n.82T>G c.419T>G (p.Phe140Cys) c.386T>G (p.Phe129Cys) n.531T>G | ClinVar dbSNP |
| X | g.38318909A>G | CA412745161 | RPGR | n.799T>C c.389T>C (p.Phe130Ser) c.296T>C (p.Phe99Ser) c.172-347212A>G (n.172-347212A>G) n.82T>C c.419T>C (p.Phe140Ser) c.386T>C (p.Phe129Ser) n.531T>C | ClinVar dbSNP |