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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
EXOC3L1 ENSG00000179044 ENST00000314586 p.H310Y c.928C>T Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.T1844T c.5532A>C Silent -
LRRC37A2 ENSG00000238083 ENST00000576629 p.I1548T c.4643T>C Missense_Mutation -
ABI2 ENSG00000138443 ENST00000422511 p.R219R c.657T>C Silent -
NME2 ENSG00000243678 ENST00000393193 p.E267E c.801A>G Silent -
THOC3 ENSG00000051596 ENST00000265097 p.T155S c.463A>T Missense_Mutation -
AMOTL2 ENSG00000114019 ENST00000514516 p.G139V c.416G>T Missense_Mutation -
CNTD1 ENSG00000176563 ENST00000588527 p.R17K c.50G>A Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.S1345I c.4034G>T Missense_Mutation -
KAT2A ENSG00000108773 ENST00000225916 p.G73A c.218G>C Missense_Mutation -