Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
DLC1 ENSG00000164741 ENST00000276297 p.G132R c.394G>C Missense_Mutation -
NRG1 ENSG00000157168 ENST00000405005 p.C265F c.794G>T Missense_Mutation -
NRG1 ENSG00000157168 ENST00000405005 p.A596E c.1787C>A Missense_Mutation -
LRRC18 ENSG00000165383 ENST00000374160 p.P114P c.342C>G Silent -
MYO1H ENSG00000174527 ENST00000431443 p.L279M c.835C>A Missense_Mutation -
TP73 ENSG00000078900 ENST00000378295 p.G292G c.876C>A Silent -
CFAP77 ENSG00000188523 ENST00000343036 p.Q59E c.175C>G Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.N273H c.817A>C Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.V270I c.808G>A Missense_Mutation -
NKTR ENSG00000114857 ENST00000232978 p.S1438F c.4313C>T Missense_Mutation -