| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22257753G>A | CA5923240 | ANO5 | c.956G>A (p.Trp319Ter) c.1364G>A (p.Trp455Ter) n.2400G>A c.1361G>A (p.Trp454Ter) c.1406G>A (p.Trp469Ter) n.1741G>A c.1403G>A (p.Trp468Ter) c.1328G>A (p.Trp443Ter) c.1325G>A (p.Trp442Ter) c.1313G>A (p.Trp438Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22257753G= | CA1957417929 | ANO5 | c.956G= (p.Trp319=) c.1364G= (p.Trp455=) n.2400G= c.1361G= (p.Trp454=) c.1406G= (p.Trp469=) n.1741G= c.1403G= (p.Trp468=) c.1328G= (p.Trp443=) c.1325G= (p.Trp442=) c.1313G= (p.Trp438=) | dbSNP |