Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| EMCN | ENSG00000164035 | ENST00000296420 | p.S189Y | c.566C>A | Missense_Mutation | - |
| METTL25 | ENSG00000127720 | ENST00000248306 | p.S506S | c.1518T>G | Silent | - |
| ZNF768 | ENSG00000169957 | ENST00000380412 | p.R248P | c.743G>C | Missense_Mutation | - |
| VWF | ENSG00000110799 | ENST00000261405 | p.L2055H | c.6164T>A | Missense_Mutation | - |
| VWF | ENSG00000110799 | ENST00000261405 | p.L282P | c.845T>C | Missense_Mutation | - |
| MAMDC4 | ENSG00000177943 | ENST00000317446 | p.A762S | c.2284G>T | Missense_Mutation | - |
| CIT | ENSG00000122966 | ENST00000261833 | p.E931* | c.2791G>T | Nonsense_Mutation | - |
| MUC12 | ENSG00000205277 | ENST00000379442 | p.A549S | c.1645G>T | Missense_Mutation | - |
| RB1 | ENSG00000139687 | ENST00000267163 | p.Q850* | c.2548C>T | Nonsense_Mutation | - |
| CLPB | ENSG00000162129 | ENST00000294053 | p.T598M | c.1793C>T | Missense_Mutation | - |