| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235791881G>T | CA344854 | LYST | c.4116+1622C>A (n.4116+1622C>A) c.3764C>A (p.Ala1255Asp) c.4361C>A (p.Ala1454Asp) n.4912C>A c.2024C>A (p.Ala675Asp) n.4543C>A | ClinVar dbSNP |
| 1 | g.235791881G= | CA1141188434 | LYST | c.4116+1622C= (n.4116+1622C=) c.3764C= (p.Ala1255=) c.4361C= (p.Ala1454=) n.4912C= c.2024C= (p.Ala675=) n.4543C= | dbSNP |