Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
RHOC ENSG00000155366 ENST00000285735 p.D124fs c.371_372delAC Frame_Shift_Del -
MMP2 ENSG00000087245 ENST00000219070 p.A571T c.1711G>A Missense_Mutation -
SCFD1 ENSG00000092108 ENST00000458591 p.I413V c.1237A>G Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.R13G c.37C>G Missense_Mutation -
LRRC18 ENSG00000165383 ENST00000374160 p.N177N c.531C>T Silent -
DIPK1B ENSG00000165716 ENST00000371692 p.RQCK355fs c.1064_1074delGGCAGTGCAAG Frame_Shift_Del -
LRRK2 ENSG00000188906 ENST00000298910 p.Q536K c.1606C>A Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.E1901D c.5703A>C Missense_Mutation -
PDP2 ENSG00000172840 ENST00000311765 p.S128F c.383C>T Missense_Mutation -
PDP2 ENSG00000172840 ENST00000311765 p.C129R c.385T>C Missense_Mutation -