Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| SEMA3F | ENSG00000001617 | ENST00000002829 | p.K109M | c.326A>T | Missense_Mutation | - |
| MYCBP2 | ENSG00000005810 | ENST00000544440 | p.D2707H | c.8119G>C | Missense_Mutation | - |
| MYCBP2 | ENSG00000005810 | ENST00000544440 | p.S2594P | c.7780T>C | Missense_Mutation | - |
| KIAA0100 | ENSG00000007202 | ENST00000528896 | p.H982R | c.2945A>G | Missense_Mutation | - |
| CRAMP1 | ENSG00000007545 | ENST00000397412 | p.C301C | c.903C>T | Silent | - |
| TFAP2B | ENSG00000008196 | ENST00000393655 | p.R382L | c.1145G>T | Missense_Mutation | - |
| GIPR | ENSG00000010310 | ENST00000590918 | p.S342Y | c.1025C>A | Missense_Mutation | - |
| MRC2 | ENSG00000011028 | ENST00000303375 | p.E148G | c.443A>G | Missense_Mutation | - |
| LARS2 | ENSG00000011376 | ENST00000415258 | p.T697I | c.2090C>T | Missense_Mutation | - |
| NRXN3 | ENSG00000021645 | ENST00000554719 | p.V603L | c.1807G>C | Missense_Mutation | - |