| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38321041G>T | CA226407 | RPGR | n.706C>A c.296C>A (p.Thr99Asn) c.203C>A (p.Thr68Asn) c.172-345080G>T (n.172-345080G>T) c.326C>A (p.Thr109Asn) n.438C>A | ClinVar dbSNP |
| X | g.38321041G>A | CA412745374 | RPGR | n.706C>T c.296C>T (p.Thr99Ile) c.203C>T (p.Thr68Ile) c.172-345080G>A (n.172-345080G>A) c.326C>T (p.Thr109Ile) n.438C>T | ClinVar dbSNP |
| X | g.38321041G= | CA2424855849 | RPGR | n.706C= c.296C= (p.Thr99=) c.203C= (p.Thr68=) c.172-345080G= (n.172-345080G=) c.326C= (p.Thr109=) n.438C= | dbSNP |