| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21324747A>G | CA7089115 | RPGRIP1 | c.1892A>G (p.His631Arg) c.688+2743A>G (n.688+2743A>G) n.328+22A>G n.824A>G c.278A>G (p.His93Arg) c.319A>G c.212+22A>G (n.212+22A>G) c.317A>G (p.His106Arg) c.1681+2743A>G (n.1681+2743A>G) c.1778A>G (p.His593Arg) c.818A>G (p.His273Arg) c.785A>G (p.His262Arg) c.266A>G (p.His89Arg) c.796+22A>G (n.796+22A>G) c.1859A>G (p.His620Arg) c.190+2743A>G (n.190+2743A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21324747A>T | CA170857 | RPGRIP1 | c.1892A>T (p.His631Leu) c.688+2743A>T (n.688+2743A>T) n.328+22A>T n.824A>T c.278A>T (p.His93Leu) c.319A>T c.212+22A>T (n.212+22A>T) c.317A>T (p.His106Leu) c.1681+2743A>T (n.1681+2743A>T) c.1778A>T (p.His593Leu) c.818A>T (p.His273Leu) c.785A>T (p.His262Leu) c.266A>T (p.His89Leu) c.796+22A>T (n.796+22A>T) c.1859A>T (p.His620Leu) c.190+2743A>T (n.190+2743A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |