Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KRT16 | ENSG00000186832 | ENST00000301653 | p.404_405insM | c.1211_1212insCAT | In_Frame_Ins | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.L404fs | c.1208delT | Frame_Shift_Del | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.I402fs | c.1204_1205delAT | Frame_Shift_Del | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.E246E | c.738G>A | Silent | - |
| BTN2A2 | ENSG00000124508 | ENST00000356709 | p.T180A | c.538A>G | Missense_Mutation | - |
| NAP1L6 | ENSG00000204118 | ENST00000373518 | p.P85P | c.255C>G | Silent | - |
| CTBP2 | ENSG00000175029 | ENST00000337195 | p.T257N | c.770C>A | Missense_Mutation | - |
| CIT | ENSG00000122966 | ENST00000392521 | p.V576V | c.1728C>G | Silent | - |
| STYK1 | ENSG00000060140 | ENST00000075503 | p.L206L | c.618C>G | Silent | - |
| ANAPC1 | ENSG00000153107 | ENST00000341068 | p.L1145L | c.3435G>A | Silent | - |