Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
OR6B1 | ENSG00000221813 | ENST00000408922 | p.T280I | c.839C>T | Missense_Mutation | - |
IFIT5 | ENSG00000152778 | ENST00000371795 | p.E368G | c.1103A>G | Missense_Mutation | - |
RINT1 | ENSG00000135249 | ENST00000257700 | p.L562fs | c.1685delT | Frame_Shift_Del | - |
C11orf24 | ENSG00000171067 | ENST00000304271 | p.S131T | c.392G>C | Missense_Mutation | - |
MUC12 | ENSG00000205277 | ENST00000379442 | p.T5335M | c.16004C>T | Missense_Mutation | - |
VWA7 | ENSG00000204396 | ENST00000375688 | p.I609S | c.1826T>G | Missense_Mutation | - |
ZXDB | ENSG00000198455 | ENST00000374888 | p.A194D | c.581C>A | Missense_Mutation | - |
ZXDB | ENSG00000198455 | ENST00000374888 | p.G198R | c.592G>A | Missense_Mutation | - |
ASCC3 | ENSG00000112249 | ENST00000369162 | p.T218K | c.653C>A | Missense_Mutation | - |
CPLANE1 | ENSG00000197603 | ENST00000508244 | p.G1271G | c.3813T>G | Splice_Site | - |