Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| NRG1 | ENSG00000157168 | ENST00000287842 | p.R283Q | c.848G>A | Missense_Mutation | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.S354F | c.1061C>T | Missense_Mutation | - |
| UBR2 | ENSG00000024048 | ENST00000372899 | p.L1727L | c.5181C>T | Silent | - |
| ADAMTS4 | ENSG00000158859 | ENST00000367996 | p.F367F | c.1101C>T | Silent | - |
| SLC25A29 | ENSG00000197119 | ENST00000359232 | p.D233E | c.699C>A | Missense_Mutation | - |
| CACNA1B | ENSG00000148408 | ENST00000371372 | p.N714N | c.2142C>T | Silent | - |
| HRNR | ENSG00000197915 | ENST00000368801 | p.K30N | c.90G>C | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.E330V | c.989A>T | Missense_Mutation | - |
| RXRB | ENSG00000204231 | ENST00000374685 | p.Q263* | c.787C>T | Nonsense_Mutation | - |
| WDR97 | ENSG00000179698 | ENST00000323662 | p.P394P | c.1182G>C | Silent | - |