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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.I377V c.1129A>G Missense_Mutation -
FBXW2 ENSG00000119402 ENST00000608872 p.L161L c.483C>T Silent -
CAPN15 ENSG00000103326 ENST00000219611 p.R294Q c.881G>A Missense_Mutation -
TMEM94 ENSG00000177728 ENST00000314256 p.C1314Y c.3941G>A Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.L2025L c.6075C>T Silent -
ZFHX4 ENSG00000091656 ENST00000521891 p.E1532G c.4595A>G Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.G3309A c.9926G>C Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.S2684C c.8051C>G Missense_Mutation -
ADGRL1 ENSG00000072071 ENST00000340736 p.I895I c.2685C>T Silent -
FANCI ENSG00000140525 ENST00000310775 p.K548E c.1642A>G Missense_Mutation -