| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235802998G>C | CA344946994 | LYST | c.3622C>G (p.Gln1208Glu) c.3025C>G (p.Gln1009Glu) n.4173C>G c.1285C>G (p.Gln429Glu) n.3804C>G | dbSNP |
| 1 | g.235802998G>A | CA347089 | LYST | c.3622C>T (p.Gln1208Ter) c.3025C>T (p.Gln1009Ter) n.4173C>T c.1285C>T (p.Gln429Ter) n.3804C>T | ClinVar dbSNP |
| 1 | g.235802998G= | CA2486648939 | LYST | c.3622C= (p.Gln1208=) c.3025C= (p.Gln1009=) n.4173C= c.1285C= (p.Gln429=) n.3804C= | dbSNP |