| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88294342del | CA163388 | CTSC | c.1056del (p.Tyr352Ter) n.5369del c.*863del (n.*863del) c.*562del (n.*562del) c.*733del (n.*733del) c.1023del (p.Tyr341Ter) c.1017del (p.Tyr339Ter) c.*707del (n.*707del) c.889+1791del (n.889+1791del) c.924del (p.Tyr308Ter) c.693del (p.Tyr231Ter) n.3790del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.88294342A= | CA2581039351 | CTSC | c.1056T= (p.Tyr352=) n.5369T= c.*863T= (n.*863T=) c.*562T= (n.*562T=) c.*733T= (n.*733T=) c.1023T= (p.Tyr341=) c.1017T= (p.Tyr339=) c.*707T= (n.*707T=) c.889+1791T= (n.889+1791T=) c.924T= (p.Tyr308=) c.693T= (p.Tyr231=) n.3790T= | dbSNP dbSNP |