| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2166530del | CA16041461 | TH | c.997del (p.Leu333TrpfsTer?) c.*686del (n.*686del) c.715del (p.Leu239TrpfsTer?) c.*717del (n.*717del) c.1078del (p.Leu360TrpfsTer?) c.1090del (p.Leu364TrpfsTer?) c.155del c.291del n.162del n.546del c.1009del (p.Leu337TrpfsTer?) | ClinVar dbSNP |
| 11 | g.2166530G= | CA3183114500 | TH | c.997C= (p.Leu333=) c.*686C= (n.*686C=) c.715C= (p.Leu239=) c.*717C= (n.*717C=) c.1078C= (p.Leu360=) c.1090C= (p.Leu364=) c.155C= c.291C= n.162C= n.546C= c.1009C= (p.Leu337=) | dbSNP dbSNP |