Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SENP6 ENSG00000112701 ENST00000447266 p.R209Q c.626G>A Missense_Mutation -
SENP6 ENSG00000112701 ENST00000447266 p.E587D c.1761A>T Missense_Mutation -
FOXJ3 ENSG00000198815 ENST00000372572 p.R225H c.674G>A Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.SK1636fs c.4907_4908insA Frame_Shift_Ins -
KCNK1 ENSG00000135750 ENST00000366621 p.T145A c.433A>G Missense_Mutation -
KCNK1 ENSG00000135750 ENST00000366621 p.K274fs c.819_820insA Frame_Shift_Ins -
PTPRB ENSG00000127329 ENST00000550358 p.G1844D c.5531G>A Missense_Mutation -
NKTR ENSG00000114857 ENST00000232978 p.K188fs c.559delA Frame_Shift_Del -
SORBS1 ENSG00000095637 ENST00000361941 p.F443L c.1327T>C Missense_Mutation -
PNISR ENSG00000132424 ENST00000369239 p.K696del c.2087_2089delAAA In_Frame_Del -