Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
CXXC1 | ENSG00000154832 | ENST00000285106 | p.R206C | c.616C>T | Missense_Mutation | - |
OR4K13 | ENSG00000176253 | ENST00000315693 | p.H105Y | c.313C>T | Missense_Mutation | - |
OR4K13 | ENSG00000176253 | ENST00000315693 | p.Q100L | c.299A>T | Missense_Mutation | - |
ASCC3 | ENSG00000112249 | ENST00000369162 | p.G1664R | c.4990G>A | Missense_Mutation | - |
IDO2 | ENSG00000188676 | ENST00000389060 | p.I211I | c.633T>C | Silent | - |
IVNS1ABP | ENSG00000116679 | ENST00000367498 | p.H426Y | c.1276C>T | Missense_Mutation | - |
GMEB2 | ENSG00000101216 | ENST00000266068 | p.S437S | c.1311C>T | Silent | - |
RIOK3 | ENSG00000101782 | ENST00000339486 | p.R143K | c.428G>A | Missense_Mutation | - |
CACNA1G | ENSG00000006283 | ENST00000359106 | p.S991S | c.2973C>T | Silent | - |
PDIA3 | ENSG00000167004 | ENST00000300289 | p.A81A | c.243A>G | Silent | - |