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Table 3 DNA variants in FLG in Saudi patients with ichthyosis vulgaris

From: Filaggrin gene variants among Saudi patients with ichthyosis vulgaris

#s

DNA change [NM_002016.2(FLG)]

Amino acid change [NP_002007.1]

SNP (NCBI)

Genotype frequency

Alternate allele frequency (gnomAD)

1

c.7330 A > G

p.L2444Glu

rs71625200

14 (40%)

0.262

2

c.7371G > A

p. Glu2457Asp

rs112771575

4 (11.4%)

0.000435

3

c.7398G > A

p.Pro2466=

rs71625199

4 (11.4%)

0.00000795

4

c.7442T > C

p.Leu2481Ser

rs55650366

15 (42.8%)

0.262

5

c.7452 A > G

p.Arg2484Ser

rs111937188

4 (11.4%)

0.000212

6

c.7521 C > G

p.His2507Gln

rs3126074

17 (48.5%)

0.297

7

c.7552 C > G

p.Arg2518Gly

rs111618175

4 (11.4%)

0.000442

8

c.7557 C > T

p.Asn2519Lys

rs113878714

4 (11.4%)

0.000046

9

c.7633G > A

p.Gly2545Arg

rs3126072

17 (48.5%)

0.300

10

c.7387 C > G

p.His2463Asp

rs113188294

 

0.00801

11

c.2263G > A

p.Glu755Lys

rs74129461

5 (14.2%)

0.256

12

c.2225 C > A

p.Ser742Tyr

rs3120654

5 (14.2%)

0.036

13

c.2224T > C

p.Ser742Pro

rs774808102

1 (2.8%)

0.0000119

14

c.2174 C > T

p.Thr725Ile

rs3120655

5 (14.2%)

0.0343

15

c.2035 A > C

p.Lys679Gln

rs113685999

1 (2.8%)

0.0011

16

c.1992 C > A

p.His664Gln

rs113652604

2 (5.7%)

0.0101

17

c.1949 A > G

p.Gln650Arg

rs111791016

1 (2.8%)

0.000456

18

c.1819 C > G

p.Gln607Lys

rs113473008

1 (2.8%)

0.00000795

19

c.1791 C > G

p.Ser597Ar

rs112462459

1 (2.8%)

0.000442

20

c.1737 C > T

p.Asp579=

rs145104949

 

0.000647

21

c.1450 C > T

p.Arg484Trp

rs113136594

1 (2.8%)

0.00000398

22

c.1432 C > T

p.Pro478Ser

rs11584340

7 (20%)

0.262