Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.123373436A>G | CA5232321 | CRB2 | c.2905A>G (p.Thr969Ala) c.1909A>G (p.Thr637Ala) n.2019A>G c.2878A>G (p.Thr960Ala) c.2710A>G (p.Thr904Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.123373436A= | CA1877938656 | CRB2 | c.2905A= (p.Thr969=) c.1909A= (p.Thr637=) n.2019A= c.2878A= (p.Thr960=) c.2710A= (p.Thr904=) | dbSNP |