Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed 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 -