Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| THSD7A | ENSG00000005108 | ENST00000423059 | p.V135M | c.403G>A | Missense_Mutation | - |
| CREBBP | ENSG00000005339 | ENST00000262367 | p.S2425S | c.7275C>T | Silent | - |
| TSPOAP1 | ENSG00000005379 | ENST00000343736 | p.R707R | c.2121G>A | Silent | - |
| ITGAL | ENSG00000005844 | ENST00000356798 | p.F460F | c.1380C>T | Silent | - |
| AP2B1 | ENSG00000006125 | ENST00000262325 | NA | NA | De_novo_Start_OutOfFrame | - |
| ELAC2 | ENSG00000006744 | ENST00000338034 | p.R428C | c.1282C>T | Missense_Mutation | - |
| CDKL3 | ENSG00000006837 | ENST00000265334 | p.A387V | c.1160C>T | Missense_Mutation | - |
| PRSS21 | ENSG00000007038 | ENST00000005995 | p.W258* | c.774G>A | Nonsense_Mutation | - |
| SCN4A | ENSG00000007314 | ENST00000435607 | p.E986K | c.2956G>A | Missense_Mutation | - |
| RPUSD1 | ENSG00000007376 | ENST00000561734 | p.P285S | c.853C>T | Missense_Mutation | - |