Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SETBP1 ENSG00000152217 ENST00000282030 p.G1114G c.3342A>G Silent -
PKHD1L1 ENSG00000205038 ENST00000378402 p.T1708T c.5124G>A Silent -
PKHD1L1 ENSG00000205038 ENST00000378402 p.G2187R c.6559G>C Missense_Mutation -
SLC22A8 ENSG00000149452 ENST00000306494 p.L433L c.1299G>T Silent -
UBR2 ENSG00000024048 ENST00000372899 p.L873L c.2619C>T Silent -
CDH16 ENSG00000166589 ENST00000299752 p.T782T c.2346G>A Silent -
SCRIB ENSG00000180900 ENST00000356994 p.L239L c.717C>T Silent -
LRRK2 ENSG00000188906 ENST00000298910 p.E1789E c.5367A>G Silent -
LRRK2 ENSG00000188906 ENST00000298910 p.L2145S c.6434T>C Missense_Mutation -
EML3 ENSG00000149499 ENST00000394773 p.R262R c.786C>T Silent -