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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ANKUB1 ENSG00000206199 ENST00000383050 p.G134D c.401G>A Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.K1126N c.3378A>T Missense_Mutation -
UBOX5 ENSG00000185019 ENST00000380266 p.V499V c.1497C>T Silent -
NELFA ENSG00000185049 ENST00000411638 p.D279D c.837T>C Splice_Site -
PIKFYVE ENSG00000115020 ENST00000264380 p.T1205A c.3613A>G Missense_Mutation -
ROBO1 ENSG00000169855 ENST00000464233 p.A972V c.2915C>T Missense_Mutation -
KCNK1 ENSG00000135750 ENST00000366621 p.L146F c.436C>T Missense_Mutation -
MED13L ENSG00000123066 ENST00000281928 p.S2131S c.6393G>A Silent -
MT-ND4 ENSG00000198886 ENST00000361381 p.I201M c.603A>G Missense_Mutation -
XKR6 ENSG00000171044 ENST00000416569 p.G496G c.1488C>T Silent -