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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GPR20 ENSG00000204882 ENST00000377741 p.R309* c.925C>T Nonsense_Mutation -
CAPN15 ENSG00000103326 ENST00000219611 p.L869L c.2605C>T Silent -
ZNF746 ENSG00000181220 ENST00000458143 p.T269T c.807C>T Silent -
ZFHX4 ENSG00000091656 ENST00000521891 p.P2061del c.6142_6144delCCT In_Frame_Del -
SPDL1 ENSG00000040275 ENST00000265295 p.V118G c.353T>G Missense_Mutation -
ZNF208 ENSG00000160321 ENST00000397126 p.EE1228fs c.3684_3687delAGAA Frame_Shift_Del -
LRRK2 ENSG00000188906 ENST00000298910 p.V1456A c.4367T>C Missense_Mutation -
WDR97 ENSG00000179698 ENST00000323662 p.T1574M c.4721C>T Missense_Mutation -
EPB41L4B ENSG00000095203 ENST00000374566 p.R461W c.1381C>T Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 NA NA Splice_Site -