Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed 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 | - |