| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22257738C>A | CA16606219 | ANO5 | c.941C>A (p.Ala314Asp) c.1349C>A (p.Ala450Asp) n.2385C>A c.1346C>A (p.Ala449Asp) c.1391C>A (p.Ala464Asp) n.1726C>A c.1388C>A (p.Ala463Asp) c.1313C>A (p.Ala438Asp) c.1310C>A (p.Ala437Asp) c.1298C>A (p.Ala433Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.22257738C= | CA1957417920 | ANO5 | c.941C= (p.Ala314=) c.1349C= (p.Ala450=) n.2385C= c.1346C= (p.Ala449=) c.1391C= (p.Ala464=) n.1726C= c.1388C= (p.Ala463=) c.1313C= (p.Ala438=) c.1310C= (p.Ala437=) c.1298C= (p.Ala433=) | dbSNP dbSNP |
| 11 | g.22257738C>T | CA379921833 | ANO5 | c.941C>T (p.Ala314Val) c.1349C>T (p.Ala450Val) n.2385C>T c.1346C>T (p.Ala449Val) c.1391C>T (p.Ala464Val) n.1726C>T c.1388C>T (p.Ala463Val) c.1313C>T (p.Ala438Val) c.1310C>T (p.Ala437Val) c.1298C>T (p.Ala433Val) | dbSNP gnomAD v4 |