| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259652C>G | CA379922257 | ANO5 | c.1091C>G (p.Thr364Arg) c.1499C>G (p.Thr500Arg) n.2535C>G c.1496C>G (p.Thr499Arg) c.1541C>G (p.Thr514Arg) n.1876C>G c.1538C>G (p.Thr513Arg) c.1463C>G (p.Thr488Arg) c.1460C>G (p.Thr487Arg) c.1448C>G (p.Thr483Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259652C>T | CA144627 | ANO5 | c.1091C>T (p.Thr364Ile) c.1499C>T (p.Thr500Ile) n.2535C>T c.1496C>T (p.Thr499Ile) c.1541C>T (p.Thr514Ile) n.1876C>T c.1538C>T (p.Thr513Ile) c.1463C>T (p.Thr488Ile) c.1460C>T (p.Thr487Ile) c.1448C>T (p.Thr483Ile) | ClinVar dbSNP |
| 11 | g.22259652C= | CA1957418760 | ANO5 | c.1091C= (p.Thr364=) c.1499C= (p.Thr500=) n.2535C= c.1496C= (p.Thr499=) c.1541C= (p.Thr514=) n.1876C= c.1538C= (p.Thr513=) c.1463C= (p.Thr488=) c.1460C= (p.Thr487=) c.1448C= (p.Thr483=) | dbSNP |