Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| ZNF668 | ENSG00000167394 | ENST00000538906 | p.C241C | c.723C>T | Silent | - |
| ZXDB | ENSG00000198455 | ENST00000374888 | p.S82N | c.245G>A | Missense_Mutation | - |
| TBL1X | ENSG00000101849 | ENST00000217964 | p.E35* | c.103G>T | Splice_Site | - |
| TBL1X | ENSG00000101849 | ENST00000217964 | p.R127H | c.380G>A | Missense_Mutation | - |
| NKTR | ENSG00000114857 | ENST00000232978 | p.G962W | c.2884G>T | Missense_Mutation | - |
| STK11IP | ENSG00000144589 | ENST00000456909 | p.P969P | c.2907G>A | Silent | - |
| SORBS1 | ENSG00000095637 | ENST00000361941 | p.R256R | c.768C>T | Silent | - |
| PNISR | ENSG00000132424 | ENST00000369239 | p.R715* | c.2143C>T | Nonsense_Mutation | - |
| CACNA1G | ENSG00000006283 | ENST00000359106 | p.A681V | c.2042C>T | Missense_Mutation | - |
| CACNA1G | ENSG00000006283 | ENST00000359106 | p.R840C | c.2518C>T | Missense_Mutation | - |