| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235804625dup | CA344847 | LYST | c.3434dup (p.His1145GlnfsTer9) c.2837dup (p.His946GlnfsTer9) n.3985dup c.1097dup (p.His366GlnfsTer9) n.3616dup | ClinVar dbSNP |
| 1 | g.235804625T= | CA1141188438 | LYST | c.3434A= (p.His1145=) c.2837A= (p.His946=) n.3985A= c.1097A= (p.His366=) n.3616A= | dbSNP |