Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GATA5 | ENSG00000130700 | ENST00000252997 | p.R202* | c.604C>T | Nonsense_Mutation | - |
| SMC3 | ENSG00000108055 | ENST00000361804 | p.N430S | c.1289A>G | Missense_Mutation | - |
| MUCL3 | ENSG00000168631 | ENST00000462446 | p.A439E | c.1316C>A | Missense_Mutation | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.K418N | c.1254A>C | Missense_Mutation | - |
| REV3L | ENSG00000009413 | ENST00000358835 | p.K1176E | c.3526A>G | Missense_Mutation | - |
| COL5A3 | ENSG00000080573 | ENST00000264828 | p.A212V | c.635C>T | Missense_Mutation | - |
| PTPN4 | ENSG00000088179 | ENST00000263708 | p.N525K | c.1575T>A | Missense_Mutation | - |
| KCNA4 | ENSG00000182255 | ENST00000328224 | p.S227S | c.681C>T | Silent | - |
| NFIL3 | ENSG00000165030 | ENST00000297689 | p.V425D | c.1274T>A | Missense_Mutation | - |
| ACY3 | ENSG00000132744 | ENST00000255082 | p.A310T | c.928G>A | Missense_Mutation | - |