| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88294351del | CA118682 | CTSC | c.1047del (p.Gly350ValfsTer10) n.5360del c.*854del (n.*854del) c.*553del (n.*553del) c.*724del (n.*724del) c.1014del (p.Gly339ValfsTer10) c.1008del (p.Gly337ValfsTer10) c.*698del (n.*698del) c.889+1782del (n.889+1782del) c.915del (p.Gly306ValfsTer10) c.684del (p.Gly229ValfsTer10) n.3781del | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.88294351T= | CA2581039352 | CTSC | c.1047A= (p.Gly349=) n.5360A= c.*854A= (n.*854A=) c.*553A= (n.*553A=) c.*724A= (n.*724A=) c.1014A= (p.Gly338=) c.1008A= (p.Gly336=) c.*698A= (n.*698A=) c.889+1782A= (n.889+1782A=) c.915A= (p.Gly305=) c.684A= (p.Gly228=) n.3781A= | dbSNP |