| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235752077del | CA344871 | LYST | c.2230del (p.Tyr744IlefsTer10) c.*2979del (n.*2979del) c.1264del (p.Tyr422IlefsTer10) c.2035del (p.Tyr679IlefsTer10) c.7555del (p.Tyr2519IlefsTer10) c.95del c.7417del (p.Tyr2473IlefsTer10) c.5218del (p.Tyr1740IlefsTer10) n.7737del n.7411+3401del | ClinVar dbSNP |
| 1 | g.235752077A= | CA1141188095 | LYST | c.2230T= (p.Tyr744=) c.*2979T= (n.*2979T=) c.1264T= (p.Tyr422=) c.2035T= (p.Tyr679=) c.7555T= (p.Tyr2519=) c.95T= c.7417T= (p.Tyr2473=) c.5218T= (p.Tyr1740=) n.7737T= n.7411+3401T= | dbSNP dbSNP |