| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259649C>T | CA10606250 | ANO5 | c.1088C>T (p.Thr363Ile) c.1496C>T (p.Thr499Ile) n.2532C>T c.1493C>T (p.Thr498Ile) c.1538C>T (p.Thr513Ile) n.1873C>T c.1535C>T (p.Thr512Ile) c.1460C>T (p.Thr487Ile) c.1457C>T (p.Thr486Ile) c.1445C>T (p.Thr482Ile) | ClinVar dbSNP |
| 11 | g.22259649C= | CA1957418758 | ANO5 | c.1088C= (p.Thr363=) c.1496C= (p.Thr499=) n.2532C= c.1493C= (p.Thr498=) c.1538C= (p.Thr513=) n.1873C= c.1535C= (p.Thr512=) c.1460C= (p.Thr487=) c.1457C= (p.Thr486=) c.1445C= (p.Thr482=) | dbSNP |