| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22221158A>G | CA224411 | ANO5 | c.-209A>G (n.-209A>G) c.200A>G (p.Asp67Gly) c.*174A>G (n.*174A>G) n.621A>G n.1236A>G n.442A>G n.486A>G n.611A>G c.197A>G (p.Asp66Gly) c.242A>G (p.Asp81Gly) n.807A>G c.239A>G (p.Asp80Gly) c.164A>G (p.Asp55Gly) c.161A>G (p.Asp54Gly) c.149A>G (p.Asp50Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22221158A= | CA1957395205 | ANO5 | c.-209A= (n.-209A=) c.200A= (p.Asp67=) c.*174A= (n.*174A=) n.621A= n.1236A= n.442A= n.486A= n.611A= c.197A= (p.Asp66=) c.242A= (p.Asp81=) n.807A= c.239A= (p.Asp80=) c.164A= (p.Asp55=) c.161A= (p.Asp54=) c.149A= (p.Asp50=) | dbSNP |