UNC13D mutations found in the 15 patients diagnosed with FHL3
| Patient . | First allele . | Second allele . | ||
|---|---|---|---|---|
| Mutation . | Predicted effect . | Mutation . | Predicted effect . | |
| P1 | c.1721_1722insA | FS | c.1763G>A | NS |
| P2 | c.754-1G>C | SE | c.2759A>G | MS |
| P3 | c.118-308C>T | TD | Duplication of exon 7-12 | ED |
| P4 | c.817C>T | NS | c.534-538delGACA | FS |
| P5 | c.754-1G>C | SE | c.118-308C>T | TD |
| P6 | c.1992+1G>A | SE | c.767G>A | MS |
| c.1240C>T | MS | |||
| P7 | c.118-308C>T | TD | c.118-308C>T | TD |
| P8 | c.2381delT | FS | c.322-1G>A | SE |
| P9 | c.754-1G>C | SE | c.1596+1G>C | SE |
| P10 | c.118-308C>T | TD | c.1596+1G>C | SE |
| P11 | c.118-308C>T | TD | c.1596+1G>C | SE |
| P12 | c.247C>T | NS | c.1596+1G>C | SE |
| P13 | c.28C>T | NS | c.723delG | FS |
| c.754-1G>C | SE | |||
| P14 | c.118-308C>T | TD | c.1596+1G>C | SE |
| P15 | c.1596+1G>C | SE | c.3081delG | FS |
| Patient . | First allele . | Second allele . | ||
|---|---|---|---|---|
| Mutation . | Predicted effect . | Mutation . | Predicted effect . | |
| P1 | c.1721_1722insA | FS | c.1763G>A | NS |
| P2 | c.754-1G>C | SE | c.2759A>G | MS |
| P3 | c.118-308C>T | TD | Duplication of exon 7-12 | ED |
| P4 | c.817C>T | NS | c.534-538delGACA | FS |
| P5 | c.754-1G>C | SE | c.118-308C>T | TD |
| P6 | c.1992+1G>A | SE | c.767G>A | MS |
| c.1240C>T | MS | |||
| P7 | c.118-308C>T | TD | c.118-308C>T | TD |
| P8 | c.2381delT | FS | c.322-1G>A | SE |
| P9 | c.754-1G>C | SE | c.1596+1G>C | SE |
| P10 | c.118-308C>T | TD | c.1596+1G>C | SE |
| P11 | c.118-308C>T | TD | c.1596+1G>C | SE |
| P12 | c.247C>T | NS | c.1596+1G>C | SE |
| P13 | c.28C>T | NS | c.723delG | FS |
| c.754-1G>C | SE | |||
| P14 | c.118-308C>T | TD | c.1596+1G>C | SE |
| P15 | c.1596+1G>C | SE | c.3081delG | FS |
ED, exon duplication; FS, frameshift; MS, missense; NS, nonsense; SE, splice error; TD, transcriptional dysregulation.