Table 2.
The total number of haplotypes described in DEB Spanish patients
| Block 2 | Block 1 | |||||||||
| Haplotypes | Mutation COL7A1 gene | rs2228561 | 11639 C>T | rs1264194 | rs9881877 | 25215C>T | rs9871180 | rs9814951 | rs9878950 | rs2532848 |
| H1 | p.Y112X (1), p.R185X (2), p.G1318R (1), p.G1791E (1), p.R1814C (1), p.G2061V (1), p.G2061V (1), p.R2424W (1), p.G2587 D (1), p.R2622W(1), p.2737V (1), c.267-3C>G (2), c.4401+1G>A(1), c.7420A>G (1), c.7930-1G>C (3), c.7930+2T>C, c.7756insC. |
C | C | G | C | C | C | A | A | C |
| H2 | p.R525X (1), p.R1730X (1), p.R2063W (1), c.7104+5G>A (1), c.5576delAA (1), c.325insGC (2), |
C | C | A | C | C | C | A | A | C |
| H3 | p.G2434R (1), p.R2808C (1) | C | C | A | C | C | C | G | G | C |
| H4 | c.58del13 (1) | C | C | G | C | C | C | A | G | C |
| H5 | c.6527insC (38), p.G2520V (1) | C | C | G | C | T | C | A | A | A |
| H6 | p.Y1098X (2), c.2781InsACGAC (1), c.8304+1G>A (1) | T | C | G | C | C | C | A | A | C |
| H7 | p.G2366 D (1), p.G2114 D (1) | C | C | G | T | C | C | A | A | C |
| H8 | - | C | C | G | C | C | C | G | G | C |
| H9 | p.G1332 D (1), c.R525X (1), ND(1) | C | C | G | C | C | C | A | A | A |
| H10 | - | C | C | G | C | T | C | A | A | C |
| H11 | - | C | - | A | C | C | C | A | G | C |
| H12 | p.G2722V, c.8717delC (1), ND (1). | C | C | G | T | C | T | G | G | C |
| H13 | - | C | T | A | C | T | C | A | A | C |
| H14 | c.5131nsCTCAC (2), c.3277-1G>C (1) | C | T | G | C | T | C | A | A | A |
| H15 | ND (2) | C | T | G | C | T | C | A | G | A |
| H16 | c.7929+2T>C (1) | C | T | G | C | C | C | A | A | C |