Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| CSF2 | ENSG00000164400 | ENST00000296871 | p.P69T | c.205C>A | Missense_Mutation | - |
| MED12L | ENSG00000144893 | ENST00000474524 | p.D615D | c.1845C>T | Silent | - |
| SDK1 | ENSG00000146555 | ENST00000404826 | p.N720N | c.2160C>T | Silent | - |
| ACSF2 | ENSG00000167107 | ENST00000300441 | p.E390* | c.1168G>T | Nonsense_Mutation | - |
| AIMP2 | ENSG00000106305 | ENST00000223029 | p.R58C | c.172C>T | Missense_Mutation | - |
| PPFIBP2 | ENSG00000166387 | ENST00000299492 | p.R140* | c.418C>T | Nonsense_Mutation | - |
| GBP2 | ENSG00000162645 | ENST00000370466 | p.F234F | c.702C>T | Silent | - |
| DDX18 | ENSG00000088205 | ENST00000263239 | p.R16Q | c.47G>A | Missense_Mutation | - |
| TBL1X | ENSG00000101849 | ENST00000217964 | p.H26D | c.76C>G | Missense_Mutation | - |
| SPATA32 | ENSG00000184361 | ENST00000331780 | p.P359S | c.1075C>T | Missense_Mutation | - |