Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
COG2 | ENSG00000135775 | ENST00000366669 | p.R116L | c.347G>T | Missense_Mutation | - |
MAMDC4 | ENSG00000177943 | ENST00000317446 | p.G913R | c.2737G>A | Missense_Mutation | - |
FBXL18 | ENSG00000155034 | ENST00000382368 | p.H38H | c.114C>T | Silent | - |
CAPN15 | ENSG00000103326 | ENST00000219611 | p.G208D | c.623G>A | Missense_Mutation | - |
HRNR | ENSG00000197915 | ENST00000368801 | p.L1934S | c.5801T>C | Missense_Mutation | - |
-- | ENSG00000080297 | ENST00000172853 | p.H5961H | c.17883T>C | Silent | - |
ZNF208 | ENSG00000160321 | ENST00000397126 | p.E669* | c.2005G>T | Nonsense_Mutation | - |
IDO2 | ENSG00000188676 | ENST00000389060 | p.L329L | c.987G>A | Silent | - |
FAM8A1 | ENSG00000137414 | ENST00000259963 | p.G327A | c.980G>C | Missense_Mutation | - |
TAF4 | ENSG00000130699 | ENST00000252996 | p.A478A | c.1434G>T | Silent | - |