Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KCTD18 | ENSG00000155729 | ENST00000359878 | p.S43N | c.128G>A | Missense_Mutation | - |
| OR13A1 | ENSG00000256574 | ENST00000553795 | p.L319F | c.955C>T | Missense_Mutation | - |
| EXO1 | ENSG00000174371 | ENST00000366548 | p.A671V | c.2012C>T | Missense_Mutation | - |
| -- | ENSG00000167957 | ENST00000447419 | p.S417S | c.1251C>T | Silent | - |
| P2RY6 | ENSG00000171631 | ENST00000393590 | p.V102F | c.304G>T | Missense_Mutation | - |
| CHD1L | ENSG00000131778 | ENST00000369258 | p.Y871* | c.2613C>A | Nonsense_Mutation | - |
| C5orf34 | ENSG00000172244 | ENST00000306862 | p.P29L | c.86C>T | Missense_Mutation | - |
| ACSS3 | ENSG00000111058 | ENST00000548058 | p.L294L | c.882G>A | Silent | - |
| NLRP4 | ENSG00000160505 | ENST00000301295 | p.E727E | c.2181G>A | Silent | - |
| ZNF750 | ENSG00000141579 | ENST00000269394 | p.G606A | c.1817G>C | Missense_Mutation | - |