| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22272930dup | CA201499 | ANO5 | n.193dup c.1726dup (p.Ser576LysfsTer20) c.2134dup (p.Ser712LysfsTer20) n.3170dup c.2131dup (p.Ser711LysfsTer20) c.2176dup (p.Ser726LysfsTer20) n.2511dup c.2173dup (p.Ser725LysfsTer20) c.2098dup (p.Ser700LysfsTer20) c.2095dup (p.Ser699LysfsTer20) c.2083dup (p.Ser695LysfsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272930A= | CA1957403082 | ANO5 | n.193A= c.1726A= (p.Ser576=) c.2134A= (p.Ser712=) n.3170A= c.2131A= (p.Ser711=) c.2176A= (p.Ser726=) n.2511A= c.2173A= (p.Ser725=) c.2098A= (p.Ser700=) c.2095A= (p.Ser699=) c.2083A= (p.Ser695=) | dbSNP |