| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235808921dup | CA116448 | LYST | c.1902dup (p.Ala635SerfsTer4) c.1305dup (p.Ala436SerfsTer4) n.2453dup n.2084dup | ClinVar dbSNP |
| 1 | g.235808921del | CA916432764 | LYST | c.1902del (p.Ala635GlnfsTer13) c.1305del (p.Ala436GlnfsTer13) n.2453del n.2084del | dbSNP |