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Table 2 The total number of haplotypes described in DEB Spanish patients

From: A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

   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