| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235716749del | CA116449 | LYST | c.5118del (n.5118del) c.1685del (p.Tyr562LeufsTer?) c.*5285del (n.*5285del) c.140del (p.Tyr47LeufsTer?) c.3054del (n.3054del) c.546del c.1724del (p.Tyr575LeufsTer?) c.4070del (p.Tyr1357LeufsTer?) c.9590del (p.Tyr3197LeufsTer?) c.*5014del (n.*5014del) n.4580del n.456del c.9752del (p.Tyr3251LeufsTer?) c.9614del (p.Tyr3205LeufsTer?) c.7415del (p.Tyr2472LeufsTer?) n.10625del | ClinVar dbSNP |
| 1 | g.235716749T= | CA1141188111 | LYST | c.5118A= (n.5118A=) c.1685A= (p.Tyr562=) c.*5285A= (n.*5285A=) c.140A= (p.Tyr47=) c.3054A= (n.3054A=) c.546A= c.1724A= (p.Tyr575=) c.4070A= (p.Tyr1357=) c.9590A= (p.Tyr3197=) c.*5014A= (n.*5014A=) n.4580A= n.456A= c.9752A= (p.Tyr3251=) c.9614A= (p.Tyr3205=) c.7415A= (p.Tyr2472=) n.10625A= | dbSNP dbSNP |