Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GAK | ENSG00000178950 | ENST00000314167 | p.L482P | c.1445T>C | Missense_Mutation | - |
| GAK | ENSG00000178950 | ENST00000314167 | p.P480P | c.1440A>C | Silent | - |
| GALNT16 | ENSG00000100626 | ENST00000337827 | p.A470T | c.1408G>A | Missense_Mutation | - |
| PCDHB4 | ENSG00000081818 | ENST00000194152 | p.P732L | c.2195C>T | Missense_Mutation | - |
| VWF | ENSG00000110799 | ENST00000261405 | p.P1418S | c.4252C>T | Missense_Mutation | - |
| -- | ENST00000404233 | p.G611G | c.1833G>A | Silent | - | |
| SLC22A8 | ENSG00000149452 | ENST00000306494 | p.D525Y | c.1573G>T | Missense_Mutation | - |
| SLC22A8 | ENSG00000149452 | ENST00000306494 | p.L524P | c.1571T>C | Missense_Mutation | - |
| FBXL18 | ENSG00000155034 | ENST00000382368 | p.L628F | c.1882C>T | Missense_Mutation | - |
| CIT | ENSG00000122966 | ENST00000392521 | p.G241* | c.721G>T | Nonsense_Mutation | - |