| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22276125G>T | CA5923586 | ANO5 | n.463G>T c.1996G>T (p.Glu666Ter) c.2404G>T (p.Glu802Ter) c.2372+1378G>T (n.2372+1378G>T) n.3440G>T c.2401G>T (p.Glu801Ter) c.2446G>T (p.Glu816Ter) n.2781G>T c.2443G>T (p.Glu815Ter) c.2368G>T (p.Glu790Ter) c.2365G>T (p.Glu789Ter) c.2353G>T (p.Glu785Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22276125G>A | CA5923587 | ANO5 | n.463G>A c.1996G>A (p.Glu666Lys) c.2404G>A (p.Glu802Lys) c.2372+1378G>A (n.2372+1378G>A) n.3440G>A c.2401G>A (p.Glu801Lys) c.2446G>A (p.Glu816Lys) n.2781G>A c.2443G>A (p.Glu815Lys) c.2368G>A (p.Glu790Lys) c.2365G>A (p.Glu789Lys) c.2353G>A (p.Glu785Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |