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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 NOD2 Q9HC29 p.Gly5Arg rs140977130 variant of unknown significance
Detail
0.28 (T)
(N)
N
2 NOD2 Q9HC29 p.Pro24Leu rs149122717 variant of unknown significance
Detail
0.11 (T)
0.304 (N)
N
3 NOD2 Q9HC29 p.Arg38Met rs104895487 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.10 (T)
1 (D)
N
4 NOD2 Q9HC29 p.Ser67Cys rs146149433 variant of unknown significance
Detail
0.18 (T)
0.985 (D)
N
5 NOD2 Q9HC29 p.Glu72Gly rs138881230 variant of unknown significance
Detail
0.22 (T)
0.993 (D)
N
6 NOD2 Q9HC29 p.Leu81Val rs34936594 variant of unknown significance
Detail
0.53 (T)
0.77 (D)
N
7 NOD2 Q9HC29 p.Val92Ile rs187264529 variant of unknown significance
Detail
(-)
(-)
N
8 NOD2 Q9HC29 p.Ala110Val rs35095295 variant of unknown significance
Detail
0.27 (T)
0.008 (N)
N
9 NOD2 Q9HC29 p.Asp113Asn rs104895468 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.22 (T)
0.001 (N)
N
10 NOD2 Q9HC29 p.Pro125Leu rs149390911 variant of unknown significance
Detail
0.21 (T)
0.177 (N)
N
11 NOD2 Q9HC29 p.Arg138Gln rs104895456 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
(-)
0.808 (D)
N
12 NOD2 Q9HC29 p.Ala140Thr rs34684955 variant of unknown significance
Detail
(-)
0.063 (N)
N
13 NOD2 Q9HC29 p.Asp154Asn rs146054564 variant of unknown significance
Detail
(-)
0 (N)
N
14 NOD2 Q9HC29 p.Leu155Gln rs148753593 variant of unknown significance
Detail
(-)
0.818 (D)
N
15 NOD2 Q9HC29 p.Trp157Arg rs104895420 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.00 (D)
0 (N)
N
16 NOD2 Q9HC29 p.Arg159Gln rs150996156 variant of unknown significance
Detail
0.51 (T)
0.007 (N)
N
17 NOD2 Q9HC29 p.Val162Ile rs139571975 variant of unknown significance
Detail
(-)
0.001 (N)
N
18 NOD2 Q9HC29 p.Pro177Leu rs144368009 variant of unknown significance
Detail
0.07 (T)
0.726 (D)
N
19 NOD2 Q9HC29 p.Ala181Glu rs141414002 variant of unknown significance
Detail
0.04 (D)
1 (D)
N
20 NOD2 Q9HC29 p.Thr189Met rs61755182 variant of unknown significance
Detail
0.24 (T)
0.989 (D)
N
21 NOD2 Q9HC29 p.Ala192Val rs149071116 variant of unknown significance
Detail
0.53 (T)
0.933 (D)
N
22 NOD2 Q9HC29 p.Pro209Ser rs143080077 variant of unknown significance
Detail
0.53 (T)
0 (N)
N
23 NOD2 Q9HC29 p.Arg235Cys rs104895422 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.07 (T)
0.355 (N)
N
24 NOD2 Q9HC29 p.Thr245Met rs148516118 variant of unknown significance
Detail
0.06 (T)
0.783 (D)
N
25 NOD2 Q9HC29 p.Leu248Arg rs104895423 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.01 (D)
1 (D)
N
26 NOD2 Q9HC29 p.Glu249Gly rs117836686 variant of unknown significance
Detail
0.39 (T)
0.996 (D)
N
27 NOD2 Q9HC29 p.Pro268Ser rs2066842 variant of unknown significance
Detail
0.55 (T)
0.019 (N)
N
28 NOD2 Q9HC29 p.Glu280Gly rs146074127 variant of unknown significance
Detail
0.36 (T)
0.465 (N)
N
29 NOD2 Q9HC29 p.Asn289Ser rs5743271 variant of unknown significance
Detail
0.65 (T)
0.128 (N)
N
30 NOD2 Q9HC29 p.Asp291Asn rs104895424 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.44 (T)
0.8 (D)
N
31 NOD2 Q9HC29 p.Ala292Val rs149338478 variant of unknown significance
Detail
0.26 (T)
1 (D)
N
32 NOD2 Q9HC29 p.Thr294Ser rs104895425 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.02 (D)
1 (D)
N
33 NOD2 Q9HC29 p.Ala301Val rs104895426 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.15 (T)
0.995 (D)
N
34 NOD2 Q9HC29 p.Thr307Met rs191901394 variant of unknown significance
Detail
(-)
(-)
N
35 NOD2 Q9HC29 p.Gln310Arg rs148526508 variant of unknown significance
Detail
0.37 (T)
1 (D)
N
36 NOD2 Q9HC29 p.Arg311Trp rs104895427 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.01 (D)
0.999 (D)
N
37 NOD2 Q9HC29 p.Arg334Trp rs104895462 Blau syndrome (BS) [MIM:186580]
Detail
0.00 (D)
1 (D)
N
38 NOD2 Q9HC29 p.Arg334Gln rs104895461 Blau syndrome (BS) [MIM:186580]
Detail
0.02 (D)
1 (D)
N
39 NOD2 Q9HC29 p.Gln335His rs7498256 variant of unknown significance
Detail
0.08 (T)
0.993 (D)
N
40 NOD2 Q9HC29 p.Leu348Val rs104895428 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.03 (D)
0.995 (D)
N
41 NOD2 Q9HC29 p.His352Arg rs5743272 variant of unknown significance
Detail
0.94 (T)
0.978 (D)
N
42 NOD2 Q9HC29 p.Asp357Ala rs104895469 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.12 (T)
0.999 (D)
N
43 NOD2 Q9HC29 p.Ile363Phe rs104895470 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.03 (D)
0.705 (D)
N
44 NOD2 Q9HC29 p.Arg373Cys rs145293873 variant of unknown significance
Detail
0.02 (D)
0.999 (D)
N
45 NOD2 Q9HC29 p.Asp382Glu rs104895476 Sarcoidosis early-onset (EOS) [MIM:609464]
Detail
0.19 (T)
1 (D)
N
46 NOD2 Q9HC29 p.Glu383Gly rs104895493 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.02 (D)
1 (D)
N
47 NOD2 Q9HC29 p.Glu383Lys rs104895477 Blau syndrome (BS) [MIM:186580]
Detail
0.02 (D)
1 (D)
N
48 NOD2 Q9HC29 p.Asp390Asn rs147283871 variant of unknown significance
Detail
0.43 (T)
0.99 (D)
N
49 NOD2 Q9HC29 p.Arg391Cys rs104895481 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.06 (T)
0.986 (D)
N
50 NOD2 Q9HC29 p.Arg393Cys rs140716236 variant of unknown significance
Detail
0.05 (T)
1 (D)
N
51 NOD2 Q9HC29 p.Arg393His rs140918872 variant of unknown significance
Detail
0.12 (T)
1 (D)
N
52 NOD2 Q9HC29 p.Pro397Leu rs150078153 variant of unknown significance
Detail
0.49 (T)
1 (D)
N
53 NOD2 Q9HC29 p.Asn414Ser rs104895429 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.48 (T)
0.048 (N)
N
54 NOD2 Q9HC29 p.Ala429Thr rs144827713 variant of unknown significance
Detail
0.31 (T)
0.955 (D)
N
55 NOD2 Q9HC29 p.Ser431Leu rs104895431 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.28 (T)
0.723 (D)
N
56 NOD2 Q9HC29 p.Ala432Val rs2076754 variant of unknown significance
Detail
0.26 (T)
0.917 (D)
N
57 NOD2 Q9HC29 p.Arg439His rs143110172 variant of unknown significance
Detail
0.31 (T)
0.177 (N)
N
58 NOD2 Q9HC29 p.Glu441Lys rs104895432 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
1.00 (T)
1 (D)
N
59 NOD2 Q9HC29 p.Pro463Ala rs104895482 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.60 (T)
0.742 (D)
N
60 NOD2 Q9HC29 p.Gly464Trp rs104895492 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.02 (D)
0.998 (D)
N
61 NOD2 Q9HC29 p.Leu469Phe rs104895460 Blau syndrome (BS) [MIM:186580]
Detail
0.03 (D)
0.961 (D)
N
62 NOD2 Q9HC29 p.Arg471Cys rs1078327 variant of unknown significance
Detail
0.04 (D)
0.004 (N)
N
63 NOD2 Q9HC29 p.Gly481Asp rs104895494 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.63 (T)
1 (D)
N
64 NOD2 Q9HC29 p.Trp490Leu rs104895480 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.04 (D)
1 (D)
N
65 NOD2 Q9HC29 p.Cys495Tyr rs104895478 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.14 (T)
0.999 (D)
N
66 NOD2 Q9HC29 p.His496Leu rs104895472 Sarcoidosis early-onset (EOS) [MIM:609464]
Detail
1.00 (T)
0.992 (D)
N
67 NOD2 Q9HC29 p.Met513Thr rs104895473 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.01 (D)
0.07 (N)
N
68 NOD2 Q9HC29 p.Gly534Val rs139663808 variant of unknown significance
Detail
0.28 (T)
0.313 (N)
N
69 NOD2 Q9HC29 p.Leu550Val rs104895471 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.07 (T)
0.999 (D)
N
70 NOD2 Q9HC29 p.Arg587Cys rs104895479 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.14 (T)
0.004 (N)
N
71 NOD2 Q9HC29 p.Val592Met rs148683734 variant of unknown significance
Detail
0.10 (T)
0.001 (N)
N
72 NOD2 Q9HC29 p.Thr596Met rs142077546 variant of unknown significance
Detail
0.09 (T)
0.89 (D)
N
73 NOD2 Q9HC29 p.Thr605Asn - Blau syndrome (BS) [MIM:186580]
Detail
0.03 (D)
1 (D)
N
74 NOD2 Q9HC29 p.Thr605Pro rs104895474 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.02 (D)
1 (D)
N
75 NOD2 Q9HC29 p.Ala612Thr rs104895438 Sarcoidosis early-onset (EOS) [MIM:609464]
Detail
0.02 (D)
1 (D)
N
76 NOD2 Q9HC29 p.Ala612Val rs104895439 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.01 (D)
1 (D)
N
77 NOD2 Q9HC29 p.Cys648Trp rs78848722 variant of unknown significance
Detail
0.04 (D)
0.994 (D)
N
78 NOD2 Q9HC29 p.Ser657Gly rs150236752 variant of unknown significance
Detail
0.42 (T)
0 (N)
N
79 NOD2 Q9HC29 p.Ala660Gly rs111400183 variant of unknown significance
Detail
0.36 (T)
0.001 (N)
N
80 NOD2 Q9HC29 p.Pro668Leu rs5743275 variant of unknown significance
Detail
0.20 (T)
0.07 (N)
N
81 NOD2 Q9HC29 p.Asn670Lys rs104895475 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.40 (T)
0.996 (D)
N
82 NOD2 Q9HC29 p.Ala675Val rs138958152 variant of unknown significance
Detail
0.56 (T)
0.991 (D)
N
83 NOD2 Q9HC29 p.Leu682Phe rs149002807 variant of unknown significance
Detail
0.10 (T)
1 (D)
N
84 NOD2 Q9HC29 p.Arg684Gln rs114664276 variant of unknown significance
Detail
0.35 (T)
0.004 (N)
N
85 NOD2 Q9HC29 p.Arg684Trp rs5743276 variant of unknown significance
Detail
0.01 (D)
0.007 (N)
N
86 NOD2 Q9HC29 p.Glu692Lys rs143782684 variant of unknown significance
Detail
0.89 (T)
0.001 (N)
N
87 NOD2 Q9HC29 p.Arg702Gln rs139104022 variant of unknown significance
Detail
0.53 (T)
0.031 (N)
N
88 NOD2 Q9HC29 p.Arg702Trp rs2066844 variant of unknown significance
Detail
0.01 (D)
0.997 (D)
N
89 NOD2 Q9HC29 p.Arg703Cys rs5743277 variant of unknown significance
Detail
0.05 (T)
0.968 (D)
N
90 NOD2 Q9HC29 p.Arg708His rs35285618 variant of unknown significance
Detail
0.21 (T)
0.942 (D)
N
91 NOD2 Q9HC29 p.Arg713Cys rs104895440 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.05 (T)
0.997 (D)
N
92 NOD2 Q9HC29 p.Arg713His rs104895483 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.12 (T)
0.041 (N)
N
93 NOD2 Q9HC29 p.Ala725Gly rs5743278 variant of unknown significance
Detail
0.47 (T)
0.984 (D)
N
94 NOD2 Q9HC29 p.Pro727Leu rs104895489 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.16 (T)
0.313 (N)
N
95 NOD2 Q9HC29 p.Ala735Val rs139097081 variant of unknown significance
Detail
0.73 (T)
1 (D)
N
96 NOD2 Q9HC29 p.Ile743Met rs146458676 variant of unknown significance
Detail
0.21 (T)
0.964 (D)
N
97 NOD2 Q9HC29 p.Arg744Trp rs140876663 variant of unknown significance
Detail
0.17 (T)
1 (D)
N
98 NOD2 Q9HC29 p.Ala755Val rs61747625 variant of unknown significance
Detail
0.62 (T)
1 (D)
N
99 NOD2 Q9HC29 p.Ala758Val rs104895442 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
1.00 (T)
0.996 (D)
N
100 NOD2 Q9HC29 p.Arg760Cys rs3813758 variant of unknown significance
Detail
0.04 (D)
0.02 (N)
N
101 NOD2 Q9HC29 p.Glu778Lys rs104895443 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.89 (T)
1 (D)
N
102 NOD2 Q9HC29 p.Arg790Gln rs5743279 variant of unknown significance
Detail
0.65 (T)
0.031 (N)
N
103 NOD2 Q9HC29 p.Arg790Trp rs62029861 variant of unknown significance
Detail
0.01 (D)
0.997 (D)
N
104 NOD2 Q9HC29 p.Arg791Gln rs104895464 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.40 (T)
0.088 (N)
N
105 NOD2 Q9HC29 p.Arg791Trp rs104895484 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.01 (D)
0.007 (N)
N
106 NOD2 Q9HC29 p.Val793Met rs104895444 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.20 (T)
0.052 (N)
N
107 NOD2 Q9HC29 p.Gln809Arg rs61736931 variant of unknown significance
Detail
0.64 (T)
0.999 (D)
N
108 NOD2 Q9HC29 p.Asp824Asn rs61755272 variant of unknown significance
Detail
0.32 (T)
0.007 (N)
N
109 NOD2 Q9HC29 p.Asn825Lys rs104895485 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.01 (D)
0.937 (D)
N
110 NOD2 Q9HC29 p.Glu843Lys rs104895445 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
1.00 (T)
0.334 (N)
N
111 NOD2 Q9HC29 p.Ala849Val rs104895486 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.23 (T)
0.994 (D)
N
112 NOD2 Q9HC29 p.Asn852Ser rs104895467 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.87 (T)
0.999 (D)
N
113 NOD2 Q9HC29 p.Asn853Ser rs104895446 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.28 (T)
0.999 (D)
N
114 NOD2 Q9HC29 p.His861Arg rs148246515 variant of unknown significance
Detail
0.48 (T)
0.035 (N)
N
115 NOD2 Q9HC29 p.Met863Val rs104895447 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.63 (T)
0 (N)
N
116 NOD2 Q9HC29 p.Trp907Arg rs104895490 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.68 (T)
0.971 (D)
N
117 NOD2 Q9HC29 p.Gly908Ala rs142376491 variant of unknown significance
Detail
0.33 (T)
0.995 (D)
N
118 NOD2 Q9HC29 p.Gly908Arg rs2066845 variant of unknown significance
Detail
0.20 (T)
0.999 (D)
N
119 NOD2 Q9HC29 p.Ala918Asp rs104895452 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.33 (T)
0.999 (D)
N
120 NOD2 Q9HC29 p.Gly924Asp rs104895453 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.13 (T)
0.01 (N)
N
121 NOD2 Q9HC29 p.Val955Ile rs5743291 variant of unknown significance
Detail
0.36 (T)
0.344 (N)
N
122 NOD2 Q9HC29 p.His966Arg rs189453919 variant of unknown significance
Detail
(-)
(-)
N
123 NOD2 Q9HC29 p.Val972Ile rs104895455 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.62 (T)
0.907 (D)
N
124 NOD2 Q9HC29 p.Ala976Thr rs148561632 variant of unknown significance
Detail
0.03 (D)
0.838 (D)
N
125 NOD2 Q9HC29 p.Gly978Glu rs104895457 SARCOIDOSIS, EARLY-ONSET [MIM:609464#0000]
Detail
0.30 (T)
1 (D)
N
126 NOD2 Q9HC29 p.Asn993Asp rs142904241 variant of unknown significance
Detail
0.09 (T)
0.999 (D)
N
127 NOD2 Q9HC29 p.Thr996Asn rs142614284 variant of unknown significance
Detail
0.74 (T)
0.706 (D)
N
128 NOD2 Q9HC29 p.Arg1019Leu rs5743295 variant of unknown significance
Detail
0.31 (T)
0.999 (D)
N