Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54628953T>A | CA370984783 | RP1 | c.5071T>A (p.Ser1691Thr) c.787+6665T>A (n.787+6665T>A) c.5092T>A (p.Ser1698Thr) | dbSNP |
8 | g.54628953T>C | CA148465 | RP1 | c.5071T>C (p.Ser1691Pro) c.787+6665T>C (n.787+6665T>C) c.5092T>C (p.Ser1698Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54628953T>G | CA370984784 | RP1 | c.5071T>G (p.Ser1691Ala) c.787+6665T>G (n.787+6665T>G) c.5092T>G (p.Ser1698Ala) | dbSNP gnomAD v3 gnomAD v4 |