Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
FBXW2 ENSG00000119402 ENST00000608872 p.V340L c.1018G>C Missense_Mutation -
FOCAD ENSG00000188352 ENST00000380249 p.H722H c.2166C>T Silent -
WNT2 ENSG00000105989 ENST00000265441 p.C332C c.996C>T Silent -
UBD ENSG00000213886 ENST00000377050 p.Y27* c.81T>A Nonsense_Mutation -
CACNA1B ENSG00000148408 ENST00000371372 p.Q1337Q c.4011G>A Silent -
CACNA1B ENSG00000148408 ENST00000371372 p.I1394F c.4180A>T Missense_Mutation -
SENP6 ENSG00000112701 ENST00000447266 p.F1041fs c.3120_3121insT Frame_Shift_Ins -
MAGEB6 ENSG00000176746 ENST00000379034 p.P2T c.4C>A Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 NA NA Splice_Site -
FAM72D ENSG00000215784 ENST00000400889 p.S134G c.400A>G Missense_Mutation -