Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
CAMSAP3 ENSG00000076826 ENST00000446248 p.E725D c.2175A>T Missense_Mutation -
MYO1C ENSG00000197879 ENST00000575158 p.L836L c.2506C>T Splice_Site -
ZNF385B ENSG00000144331 ENST00000410066 p.T252I c.755C>T Missense_Mutation -
MUC20 ENSG00000176945 ENST00000436408 p.S24F c.71C>T Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.N1163I c.3488A>T Missense_Mutation -
ADGRL1 ENSG00000072071 ENST00000340736 p.A632T c.1894G>A Missense_Mutation -
FAM193A ENSG00000125386 ENST00000502458 p.A45T c.133G>A Missense_Mutation -
WDR87 ENSG00000171804 ENST00000303868 p.C249S c.746G>C Missense_Mutation -
ENSG00000116386 ENST00000331565 p.K34K c.102G>A Silent -
RDH8 ENSG00000080511 ENST00000591589 p.L41H c.122T>A Missense_Mutation -