| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235800382dup | CA347094 | LYST | c.3944dup (p.Val1316CysfsTer16) c.3347dup (p.Val1117CysfsTer16) n.4495dup c.1607dup (p.Val537CysfsTer16) n.4126dup | ClinVar dbSNP |
| 1 | g.235800382G= | CA3071753574 | LYST | c.3944C= (p.Thr1315=) c.3347C= (p.Thr1116=) n.4495C= c.1607C= (p.Thr536=) n.4126C= | dbSNP |