Table 1.
COL7A1 mutations in Hispanic RDEB patients
| FTHNA Kit No. | Mutation 1 | Mutation 2 | Sephardic | Test Site |
|---|---|---|---|---|
| MK40784 | c.6527_6528insC | c.8329C>T | 21% | Chile |
| 730451 | c.2470insG | c.2470insG | 18% | Mexico |
| MK40790 | c.6527_6528insC | c.5856+1G>T | 15% | Chile |
| MK40779 | c.7485+1G>A | c.4635+5G>A | 10% | Colombia |
| MK42684 | c.2470insG | c.2470insG | 9% | Mexico |
| 730456 | c.2470insG | c.2470insG | 7% | Mexico |
| 662380 | c.7485+5G>A | c.7485+5G>A | 8% | Colorado |
| MK40771 | c.8200G>A | c.4965C>T | 7% | Colombia |
| MK40789 | c.7708delG | c.7876–1G>A | 5% | Chile |
| 662381 | c.7485+5G>A | c.7485+5G>A | 4% | Colorado |
| MK40776 | c.7651G>C | c.4012G>A | 4% | Colombia |
| MK40782 | c.6781C>T | c.2044C>T | <2% | Colombia |
| MK40777 | c.1584G>T | c.1584G>T | - | Colombia |
| MK40787 | c.2005C>T | c.4342–2A>G | - | Chile |
| MK42706 | c.5108G>A | c.IVS23–1G>A | - | Mexico |
| 730454 | c.2470insG | c.2470insG | - | Mexico |
| MK40794 | c.2992+2T>G | c.6527_6528insC | - | Chile |
| MK40795 | c.3264_5293del | c.5532+1G>T | - | Chile |
| MK40785 | c.3759+2T>G | c.3759+2T>G | - | Chile |
| MK40772 | c.425A>G | c.8833T>C | - | Colombia |
| MK40775 | c.4510G>T | c.4510G>T | - | Colombia |
| MK40778 | c.4678G>A | c.4678G>A | - | Colombia |
| MK40793 | c.5532+1G>T | c.8245G>A | - | Chile |
| MK40792 | c.5932C>T | c.5932C>T | - | Chile |
| MK40780 | c.6091G>A | c.6091G>A | - | Colombia |
| MK40783 | c.6527_6528insC | c.6527_6528insC | - | Chile |
| MK40788 | c.6527_6528insC | c.8528–1G>A | - | Chile |
| MK40773 | c.6527_6528insC | c.5604+1G>A | - | Colombia |
| MK40791 | c.7708delG | c.7708delG | - | Chile |
| MK40786 | c.7708delG | c.8393T>G | - | Chile |
| MK40774 | c.8046+6G>A | c.5047C>T | - | Colombia |
| MK42683 | c.8709del11 | c.G2899del11 | - | Mexico |