Skip to main content

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