Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| DNMT3A | ENSG00000119772 | ENST00000264709 | p.R882C | c.2644C>T | Missense_Mutation | - |
| NHLRC1 | ENSG00000187566 | ENST00000340650 | p.V188V | c.564G>A | Silent | - |
| DHX36 | ENSG00000174953 | ENST00000496811 | p.R854fs | c.2560_2561insA | Frame_Shift_Ins | - |
| PRSS36 | ENSG00000178226 | ENST00000268281 | p.S510S | c.1530G>C | Silent | - |
| CITED1 | ENSG00000125931 | ENST00000246139 | p.G131E | c.392G>A | Missense_Mutation | - |
| SDK1 | ENSG00000146555 | ENST00000404826 | p.S1530C | c.4589C>G | Missense_Mutation | - |
| COL5A3 | ENSG00000080573 | ENST00000264828 | p.P275S | c.823C>T | Missense_Mutation | - |
| KDM3B | ENSG00000120733 | ENST00000314358 | p.P1281P | c.3843C>T | Silent | - |
| MT-ND4 | ENSG00000198886 | ENST00000361381 | p.L262L | c.786T>C | Silent | - |
| ADGRL1 | ENSG00000072071 | ENST00000340736 | p.V103M | c.307G>A | Missense_Mutation | - |