Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54625911C>A | CA461098768 | RP1 | c.2029C>A (p.Arg677=) c.787+3623C>A (n.787+3623C>A) c.2050C>A (p.Arg684=) | dbSNP |
8 | g.54625911C>G | CA370992572 | RP1 | c.2029C>G (p.Arg677Gly) c.787+3623C>G (n.787+3623C>G) c.2050C>G (p.Arg684Gly) | dbSNP |
8 | g.54625911C>T | CA253665 | RP1 | c.2029C>T (p.Arg677Ter) c.787+3623C>T (n.787+3623C>T) c.2050C>T (p.Arg684Ter) | ClinVar dbSNP gnomAD v4 COSMIC |