Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| SETBP1 | ENSG00000152217 | ENST00000282030 | p.R727W | c.2179C>T | Missense_Mutation | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.V34I | c.100G>A | Missense_Mutation | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.R535H | c.1604G>A | Missense_Mutation | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.T656M | c.1967C>T | Missense_Mutation | - |
| FBXL18 | ENSG00000155034 | ENST00000382368 | p.R403H | c.1208G>A | Missense_Mutation | - |
| SLC25A29 | ENSG00000197119 | ENST00000359232 | p.T42M | c.125C>T | Missense_Mutation | - |
| CACNA1B | ENSG00000148408 | ENST00000371372 | p.H1026R | c.3077A>G | Missense_Mutation | - |
| KCNA4 | ENSG00000182255 | ENST00000328224 | p.R87* | c.259C>T | Nonsense_Mutation | - |
| WDR97 | ENSG00000179698 | ENST00000323662 | p.L418F | c.1254G>T | Missense_Mutation | - |
| TMEM114 | ENSG00000232258 | ENST00000568335 | p.W81R | c.241T>A | Missense_Mutation | - |