| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235806723del | CA344844 | LYST | c.2413del (p.Glu805AsnfsTer2) c.1816del (p.Glu606AsnfsTer2) n.2964del c.76del (p.Glu26AsnfsTer2) n.2595del | ClinVar dbSNP gnomAD v4 |
| 1 | g.235806723C= | CA1141188444 | LYST | c.2413G= (p.Glu805=) c.1816G= (p.Glu606=) n.2964G= c.76G= (p.Glu26=) n.2595G= | dbSNP dbSNP |