Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| DLC1 | ENSG00000164741 | ENST00000276297 | p.G132R | c.394G>C | Missense_Mutation | - |
| NRG1 | ENSG00000157168 | ENST00000405005 | p.C265F | c.794G>T | Missense_Mutation | - |
| NRG1 | ENSG00000157168 | ENST00000405005 | p.A596E | c.1787C>A | Missense_Mutation | - |
| LRRC18 | ENSG00000165383 | ENST00000374160 | p.P114P | c.342C>G | Silent | - |
| MYO1H | ENSG00000174527 | ENST00000431443 | p.L279M | c.835C>A | Missense_Mutation | - |
| TP73 | ENSG00000078900 | ENST00000378295 | p.G292G | c.876C>A | Silent | - |
| CFAP77 | ENSG00000188523 | ENST00000343036 | p.Q59E | c.175C>G | Missense_Mutation | - |
| CPLANE1 | ENSG00000197603 | ENST00000508244 | p.N273H | c.817A>C | Missense_Mutation | - |
| CPLANE1 | ENSG00000197603 | ENST00000508244 | p.V270I | c.808G>A | Missense_Mutation | - |
| NKTR | ENSG00000114857 | ENST00000232978 | p.S1438F | c.4313C>T | Missense_Mutation | - |