Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PRSS36 ENSG00000178226 ENST00000268281 p.A98T c.292G>A Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.S157I c.470G>T Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.V2544L c.7630G>T Missense_Mutation -
PCDHA3 ENSG00000255408 ENST00000522353 p.A661T c.1981G>A Missense_Mutation -
NXPH3 ENSG00000182575 ENST00000328741 p.S57F c.170C>T Missense_Mutation -
RINT1 ENSG00000135249 ENST00000257700 p.V569M c.1705G>A Missense_Mutation -
ABI2 ENSG00000138443 ENST00000295851 p.P302H c.905C>A Missense_Mutation -
SLC25A29 ENSG00000197119 ENST00000359232 p.A2A c.6G>A Silent -
FAM170B ENSG00000172538 ENST00000311787 p.A108fs c.321_322delTG Frame_Shift_Del -
LRRK2 ENSG00000188906 ENST00000298910 p.C249Y c.746G>A Missense_Mutation -