Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GAK | ENSG00000178950 | ENST00000314167 | p.P480P | c.1440A>C | Silent | - |
| GAK | ENSG00000178950 | ENST00000314167 | p.A479G | c.1436C>G | Missense_Mutation | - |
| EPHB3 | ENSG00000182580 | ENST00000330394 | p.P859S | c.2575C>T | Missense_Mutation | - |
| PPARGC1A | ENSG00000109819 | ENST00000264867 | p.L796L | c.2386T>C | Silent | - |
| SEPTIN1 | ENSG00000180096 | ENST00000321367 | p.G141G | c.423G>A | Silent | - |
| COL17A1 | ENSG00000065618 | ENST00000353479 | p.A264A | c.792G>T | Silent | - |
| CAMSAP3 | ENSG00000076826 | ENST00000160298 | p.E981del | c.2939_2941delAGG | In_Frame_Del | - |
| MELK | ENSG00000165304 | ENST00000298048 | p.L320H | c.959T>A | Missense_Mutation | - |
| LIMD1 | ENSG00000144791 | ENST00000440097 | p.P71S | c.211C>T | Missense_Mutation | - |
| BCL7A | ENSG00000110987 | ENST00000261822 | NA | NA | De_novo_Start_OutOfFrame | - |