| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22276149del | CA5923592 | ANO5 | n.487del c.2020del (p.Gln674AsnfsTer10) c.2428del (p.Gln810AsnfsTer10) c.2372+1402del (n.2372+1402del) n.3464del c.2425del (p.Gln809AsnfsTer10) c.2470del (p.Gln824AsnfsTer10) n.2805del c.2467del (p.Gln823AsnfsTer10) c.2392del (p.Gln798AsnfsTer10) c.2389del (p.Gln797AsnfsTer10) c.2377del (p.Gln793AsnfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22276149C= | CA3182850073 | ANO5 | n.487C= c.2020C= (p.Gln674=) c.2428C= (p.Gln810=) c.2372+1402C= (n.2372+1402C=) n.3464C= c.2425C= (p.Gln809=) c.2470C= (p.Gln824=) n.2805C= c.2467C= (p.Gln823=) c.2392C= (p.Gln798=) c.2389C= (p.Gln797=) c.2377C= (p.Gln793=) | dbSNP dbSNP |