Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54628890G>C | CA370984650 | RP1 | c.5008G>C (p.Ala1670Pro) c.787+6602G>C (n.787+6602G>C) c.5029G>C (p.Ala1677Pro) | dbSNP |
8 | g.54628890G>A | CA148463 | RP1 | c.5008G>A (p.Ala1670Thr) c.787+6602G>A (n.787+6602G>A) c.5029G>A (p.Ala1677Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |