| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16050593C>A | CA118915 | CLCNKB | c.1046C>A (p.Ala349Asp) c.*788C>A (n.*788C>A) n.661C>A n.2581C>A n.423C>A n.507C>A c.539C>A (p.Ala180Asp) c.665C>A (p.Ala222Asp) c.887C>A (p.Ala296Asp) c.395C>A (p.Ala132Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16050593C>T | CA338640513 | CLCNKB | c.1046C>T (p.Ala349Val) c.*788C>T (n.*788C>T) n.661C>T n.2581C>T n.423C>T n.507C>T c.539C>T (p.Ala180Val) c.665C>T (p.Ala222Val) c.887C>T (p.Ala296Val) c.395C>T (p.Ala132Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16050593C= | CA1141580606 | CLCNKB | c.1046C= (p.Ala349=) c.*788C= (n.*788C=) n.661C= n.2581C= n.423C= n.507C= c.539C= (p.Ala180=) c.665C= (p.Ala222=) c.887C= (p.Ala296=) c.395C= (p.Ala132=) | dbSNP |