Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
CHP2 ENSG00000166869 ENST00000300113 p.A56V c.167C>T Missense_Mutation -
PSMC2 ENSG00000161057 ENST00000435765 p.L56F c.166C>T Missense_Mutation -
LRRC37A2 ENSG00000238083 ENST00000576629 p.N1229S c.3686A>G Missense_Mutation -
UBR2 ENSG00000024048 ENST00000372899 p.V1384V c.4152G>A Silent -
ZFHX4 ENSG00000091656 ENST00000521891 p.S524S c.1572C>T Silent -
ZFHX4 ENSG00000091656 ENST00000521891 p.R2971H c.8912G>A Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.L3548F c.10642C>T Missense_Mutation -
ZNF208 ENSG00000160321 ENST00000397126 p.F13F c.39C>T Silent -
SCAF4 ENSG00000156304 ENST00000286835 p.T815T c.2445G>A Silent -
FANCI ENSG00000140525 ENST00000310775 p.L1141L c.3423G>A Silent -