Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
MMP2 ENSG00000087245 ENST00000219070 p.G179G c.537C>T Silent -
GALNT16 ENSG00000100626 ENST00000337827 p.E402V c.1205A>T Missense_Mutation -
SCFD1 ENSG00000092108 ENST00000458591 p.E354E c.1062G>A Silent -
PCDHB4 ENSG00000081818 ENST00000194152 p.Q434K c.1300C>A Missense_Mutation -
PITX1 ENSG00000069011 ENST00000265340 p.K86N c.258G>C Missense_Mutation -
PIGU ENSG00000101464 ENST00000374820 p.T178N c.533C>A Missense_Mutation -
MUC12 ENSG00000205277 ENST00000379442 p.V5233V c.15699C>G Silent -
GPRIN1 ENSG00000169258 ENST00000303991 p.M148T c.443T>C Missense_Mutation -
FAM71E1 ENSG00000142530 ENST00000600100 p.E200K c.598G>A Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.L496P c.1487T>C Missense_Mutation -