Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KRT16 | ENSG00000186832 | ENST00000301653 | p.S159fs | c.475_476delAG | Frame_Shift_Del | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.P158fs | c.473_474insTG | Frame_Shift_Ins | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.LGAG98del | c.294_305delGGGTGCTGGCTT | In_Frame_Del | - |
| TMEM183A | ENSG00000163444 | ENST00000367242 | p.T314S | c.940A>T | Missense_Mutation | - |
| MUC12 | ENSG00000205277 | ENST00000379442 | p.L4951L | c.14851C>T | Silent | - |
| TOPAZ1 | ENSG00000173769 | ENST00000309765 | p.I194T | c.581T>C | Missense_Mutation | - |
| FAM78A | ENSG00000126882 | ENST00000372271 | p.I144I | c.432C>T | Silent | - |
| -- | ENSG00000080297 | ENST00000172853 | p.R5010W | c.15028C>T | Missense_Mutation | - |
| MED13L | ENSG00000123066 | ENST00000281928 | p.E270K | c.808G>A | Missense_Mutation | - |
| CPLANE1 | ENSG00000197603 | ENST00000508244 | p.E2297fs | c.6888_6889insA | Frame_Shift_Ins | - |