| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.53686524C>T | CA114735 | RPGRIP1L | c.685G>A (p.Ala229Thr) n.728G>A n.717G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53686524C>A | CA395924231 | RPGRIP1L | c.685G>T (p.Ala229Ser) n.728G>T n.717G>T | dbSNP gnomAD v4 |
| 16 | g.53686524C= | CA2223270827 | RPGRIP1L | c.685G= (p.Ala229=) n.728G= n.717G= | dbSNP |
| 16 | g.53686524C>G | CA395924232 | RPGRIP1L | c.685G>C (p.Ala229Pro) n.728G>C n.717G>C | dbSNP gnomAD v4 |