Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| VPS13A | ENSG00000197969 | ENST00000360280 | p.K1481fs | c.4440_4441insA | Frame_Shift_Ins | - |
| VWF | ENSG00000110799 | ENST00000261405 | p.S1486S | c.4458G>A | Silent | - |
| PHC2 | ENSG00000134686 | ENST00000257118 | p.S135S | c.405A>G | Silent | - |
| C1QBP | ENSG00000108561 | ENST00000225698 | p.C69C | c.207T>C | Silent | - |
| CFAP126 | ENSG00000188931 | ENST00000367974 | p.W95C | c.285G>T | Missense_Mutation | - |
| TG | ENSG00000042832 | ENST00000220616 | p.R1159S | c.3477G>C | Missense_Mutation | - |
| -- | ENSG00000080297 | ENST00000172853 | p.D2879Y | c.8635G>T | Missense_Mutation | - |
| KCNK1 | ENSG00000135750 | ENST00000366621 | p.I181I | c.543C>T | Silent | - |
| C8orf31 | ENSG00000177335 | ENST00000395172 | NA | NA | Splice_Site | - |
| STK11IP | ENSG00000144589 | ENST00000456909 | p.V641V | c.1923C>G | Silent | - |