Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.P480P c.1440A>C Silent -
GAK ENSG00000178950 ENST00000314167 p.A479G c.1436C>G Missense_Mutation -
EPHB3 ENSG00000182580 ENST00000330394 p.P859S c.2575C>T Missense_Mutation -
PPARGC1A ENSG00000109819 ENST00000264867 p.L796L c.2386T>C Silent -
SEPTIN1 ENSG00000180096 ENST00000321367 p.G141G c.423G>A Silent -
COL17A1 ENSG00000065618 ENST00000353479 p.A264A c.792G>T Silent -
CAMSAP3 ENSG00000076826 ENST00000160298 p.E981del c.2939_2941delAGG In_Frame_Del -
MELK ENSG00000165304 ENST00000298048 p.L320H c.959T>A Missense_Mutation -
LIMD1 ENSG00000144791 ENST00000440097 p.P71S c.211C>T Missense_Mutation -
BCL7A ENSG00000110987 ENST00000261822 NA NA De_novo_Start_OutOfFrame -