| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235734590C>T | CA344872 | LYST | c.3956G>A (n.3956G>A) c.523G>A (p.Glu175Lys) c.*3852G>A (n.*3852G>A) c.2137G>A (p.Glu713Lys) c.562G>A (p.Glu188Lys) c.2908G>A (p.Glu970Lys) c.8428G>A (p.Glu2810Lys) n.3418G>A c.8590G>A (p.Glu2864Lys) c.8452G>A (p.Glu2818Lys) c.6253G>A (p.Glu2085Lys) n.9463G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235734590C= | CA1141188094 | LYST | c.3956G= (n.3956G=) c.523G= (p.Glu175=) c.*3852G= (n.*3852G=) c.2137G= (p.Glu713=) c.562G= (p.Glu188=) c.2908G= (p.Glu970=) c.8428G= (p.Glu2810=) n.3418G= c.8590G= (p.Glu2864=) c.8452G= (p.Glu2818=) c.6253G= (p.Glu2085=) n.9463G= | dbSNP |