Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| FAM71F1 | ENSG00000135248 | ENST00000315184 | p.R303K | c.908G>A | Missense_Mutation | - |
| COL8A1 | ENSG00000144810 | ENST00000261037 | p.Q555L | c.1664A>T | Missense_Mutation | - |
| SETBP1 | ENSG00000152217 | ENST00000282030 | p.V1450L | c.4348G>T | Missense_Mutation | - |
| SETBP1 | ENSG00000152217 | ENST00000282030 | p.D1480V | c.4439A>T | Missense_Mutation | - |
| DLC1 | ENSG00000164741 | ENST00000276297 | p.S1116* | c.3347C>A | Nonsense_Mutation | - |
| PDILT | ENSG00000169340 | ENST00000302451 | p.L268M | c.802C>A | Missense_Mutation | - |
| PDILT | ENSG00000169340 | ENST00000302451 | p.E120V | c.359A>T | Missense_Mutation | - |
| NRG1 | ENSG00000157168 | ENST00000405005 | p.A163A | c.489A>G | Silent | - |
| RIMS4 | ENSG00000101098 | ENST00000372851 | p.F14L | c.40T>C | Missense_Mutation | - |
| SELENOS | ENSG00000131871 | ENST00000398226 | p.G172R | c.514G>A | Missense_Mutation | - |