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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 DKC1 O60832 p.Ala2Val rs121912303 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.46 (T)
0.98 (D)
N
2 DKC1 O60832 p.Arg19Gln rs148764075 variant of unknown significance
Detail
0.51 (T)
0.989 (D)
N
3 DKC1 O60832 p.Gln31Lys rs137854491 DYSKERATOSIS CONGENITA, X-LINKED [MIM:300126#0013]
Detail
0.38 (T)
0.989 (D)
N
4 DKC1 O60832 p.Phe36Val rs121912293 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.17 (T)
0.659 (D)
N
5 DKC1 O60832 p.Ile38Thr rs28936072 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
Detail
0.02 (D)
0.943 (D)
N
6 DKC1 O60832 p.Lys39Glu rs121912296 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.38 (T)
0.004 (N)
N
7 DKC1 O60832 p.Pro40Arg rs121912292 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.03 (D)
0.998 (D)
N
8 DKC1 O60832 p.Glu41Lys rs121912302 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.12 (T)
0.023 (N)
N
9 DKC1 O60832 p.Thr49Met rs121912304 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
Detail
0.02 (D)
0.999 (D)
N
10 DKC1 O60832 p.Leu56Ser rs121912287 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.00 (D)
1 (D)
N
11 DKC1 O60832 p.Arg65Thr rs121912301 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.03 (D)
0.899 (D)
N
12 DKC1 O60832 p.Thr66Ala rs121912297 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.27 (T)
0.596 (D)
N
13 DKC1 O60832 p.Leu72Tyr rs121912294 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.96 (T)
0.019 (N)
N
14 DKC1 O60832 p.Leu72Phe rs121912306 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.67 (T)
0.19 (N)
N
15 DKC1 O60832 p.Ser98Pro rs11558982 variant of unknown significance
Detail
0.27 (T)
0.023 (N)
N
16 DKC1 O60832 p.Ser121Gly rs121912305 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
Detail
0.20 (T)
0.336 (N)
N
17 DKC1 O60832 p.Ser219Asn rs5945234 variant of unknown significance
Detail
0.22 (T)
0.894 (D)
N
18 DKC1 O60832 p.Gly223Asp rs2728533 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
19 DKC1 O60832 p.Ile226Ser rs2728534 variant of unknown significance
Detail
0.00 (D)
0.987 (D)
N
20 DKC1 O60832 p.His259Pro rs61757608 variant of unknown significance
Detail
0.17 (T)
0.008 (N)
N
21 DKC1 O60832 p.Ser280Arg rs146700772 variant of unknown significance
Detail
0.25 (T)
0.253 (N)
N
22 DKC1 O60832 p.Val285Phe rs17850575 variant of unknown significance
Detail
0.05 (D)
0.991 (D)
N
23 DKC1 O60832 p.Leu317Phe rs121912290 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.05 (T)
0.527 (D)
N
24 DKC1 O60832 p.Leu321Val rs2728726 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.19 (T)
0.964 (D)
N
25 DKC1 O60832 p.Leu321Ile rs2728726 DYSKERATOSIS CONGENITA, X-LINKED; DKCX [MIM:305000#0000]
Detail
0.11 (T)
0.913 (D)
N
26 DKC1 O60832 p.Arg322Gln rs121912291 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.11 (T)
0.981 (D)
N
27 DKC1 O60832 p.Gly326Ser rs140273992 variant of unknown significance
Detail
0.36 (T)
0.045 (N)
N
28 DKC1 O60832 p.Met350Thr rs121912300 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.11 (T)
0.997 (D)
N
29 DKC1 O60832 p.Met350Ile rs121912298 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.20 (T)
0.916 (D)
N
30 DKC1 O60832 p.Ala353Val rs121912288 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.37 (T)
0.582 (D)
N
31 DKC1 O60832 p.Thr357Ala rs137854492 DYSKERATOSIS CONGENITA, X-LINKED [MIM:300126#0014]
Detail
0.71 (T)
0.184 (N)
N
32 DKC1 O60832 p.Gly402Arg rs121912299 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.01 (D)
1 (D)
N
33 DKC1 O60832 p.Gly402Glu rs121912295 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.02 (D)
0.999 (D)
N
34 DKC1 O60832 p.Pro409Leu rs121912289 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
Detail
0.00 (D)
1 (D)
N
35 DKC1 O60832 p.Glu508Asp rs186518477 variant of unknown significance
Detail
(-)
(-)
N
36 DKC1 O60832 p.Ser513Tyr rs138410549 variant of unknown significance
Detail
0.03 (D)
0.776 (D)
N