Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KCTD18 | ENSG00000155729 | ENST00000359878 | p.R256* | c.766C>T | Splice_Site | - |
| SFTA3 | ENSG00000229415 | ENST00000518529 | p.A3T | c.7G>A | Missense_Mutation | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.488_489SL>SVL | c.1463_1464insGGT | In_Frame_Ins | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.L490P | c.1469T>C | Missense_Mutation | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.P495P | c.1485G>A | Silent | - |
| F3 | ENSG00000117525 | ENST00000334047 | p.L187L | c.561T>C | Silent | - |
| ZNF300 | ENSG00000145908 | ENST00000274599 | NA | NA | Start_Codon_Ins | - |
| PTPRB | ENSG00000127329 | ENST00000261266 | p.Y232H | c.694T>C | Missense_Mutation | - |
| SMO | ENSG00000128602 | ENST00000249373 | p.N608S | c.1823A>G | Missense_Mutation | - |
| TICAM1 | ENSG00000127666 | ENST00000248244 | p.L549R | c.1646T>G | Missense_Mutation | - |