Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| MMP2 | ENSG00000087245 | ENST00000219070 | p.G179G | c.537C>T | Silent | - |
| GALNT16 | ENSG00000100626 | ENST00000337827 | p.E402V | c.1205A>T | Missense_Mutation | - |
| SCFD1 | ENSG00000092108 | ENST00000458591 | p.E354E | c.1062G>A | Silent | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.Q434K | c.1300C>A | Missense_Mutation | - |
| PITX1 | ENSG00000069011 | ENST00000265340 | p.K86N | c.258G>C | Missense_Mutation | - |
| PIGU | ENSG00000101464 | ENST00000374820 | p.T178N | c.533C>A | Missense_Mutation | - |
| MUC12 | ENSG00000205277 | ENST00000379442 | p.V5233V | c.15699C>G | Silent | - |
| GPRIN1 | ENSG00000169258 | ENST00000303991 | p.M148T | c.443T>C | Missense_Mutation | - |
| FAM71E1 | ENSG00000142530 | ENST00000600100 | p.E200K | c.598G>A | Missense_Mutation | - |
| ASCC3 | ENSG00000112249 | ENST00000369162 | p.L496P | c.1487T>C | Missense_Mutation | - |