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 |