Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PXN ENSG00000089159 ENST00000228307 p.D459G c.1376A>G Missense_Mutation -
MAML3 ENSG00000196782 ENST00000509479 p.H363P c.1088A>C Missense_Mutation -
CTNNB1 ENSG00000168036 ENST00000349496 p.S37A c.109T>G Missense_Mutation -
PPP3CA ENSG00000138814 ENST00000394854 NA NA Splice_Site -
CASP3 ENSG00000164305 ENST00000308394 p.I48V c.142A>G Missense_Mutation -
PLEKHA5 ENSG00000052126 ENST00000299275 p.T430fs c.1288_1289insC Frame_Shift_Ins -
CUBN ENSG00000107611 ENST00000377833 p.Q59E c.175C>G Missense_Mutation -
CHD9 ENSG00000177200 ENST00000398510 p.R2431fs c.7291_7292insG Frame_Shift_Ins -
TP53 ENSG00000141510 ENST00000269305 p.R175H c.524G>A Missense_Mutation -
TRPM6 ENSG00000119121 ENST00000360774 p.S2002L c.6005C>T Missense_Mutation -