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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GNRHR P30968 p.Asn10Lys rs104893843 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.95 (T)
0 (N)
N
2 GNRHR P30968 p.Gln11Lys rs142842994 variant of unknown significance
Detail
0.93 (T)
0 (N)
N
3 GNRHR P30968 p.Asn27Lys rs148702483 variant of unknown significance
Detail
0.93 (T)
0 (N)
N
4 GNRHR P30968 p.Phe43Leu rs149572241 variant of unknown significance
Detail
0.66 (T)
0.994 (D)
N
5 GNRHR P30968 p.Trp63Cys rs138926430 variant of unknown significance
Detail
0.14 (T)
0.972 (D)
N
6 GNRHR P30968 p.Glu90Lys rs104893844 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.01 (D)
0.999 (D)
N
7 GNRHR P30968 p.Gln106Arg rs104893836 Fertile eunuch syndrome (FEUNS) [MIM:228300]
Detail
0.53 (T)
0.997 (D)
N
8 GNRHR P30968 p.Ala129Asp rs104893838 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.02 (D)
1 (D)
N
9 GNRHR P30968 p.Val134Gly rs188272653 variant of unknown significance
Detail
(-)
(-)
N
10 GNRHR P30968 p.Arg139His rs104893842 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.07 (T)
1 (D)
N
11 GNRHR P30968 p.Pro146Ser rs144900788 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
12 GNRHR P30968 p.Asn152Ser rs182806311 variant of unknown significance
Detail
(-)
(-)
N
13 GNRHR P30968 p.Gly156Glu rs148112458 variant of unknown significance
Detail
0.71 (T)
0.002 (N)
N
14 GNRHR P30968 p.Ser167Arg rs139559598 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
15 GNRHR P30968 p.Ser168Arg rs104893840 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.34 (T)
0.201 (N)
N
16 GNRHR P30968 p.Ala171Ser rs74452732 HYPOGONADOTROPIC HYPOGONADISM [MIM:138850#0012]
Detail
1.00 (T)
0.999 (D)
N
17 GNRHR P30968 p.Ala171Thr rs74452732 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.37 (T)
1 (D)
N
18 GNRHR P30968 p.Ser217Arg rs104893839 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.37 (T)
0.451 (N)
N
19 GNRHR P30968 p.Cys218Phe rs151105045 variant of unknown significance
Detail
0.89 (T)
0.095 (N)
N
20 GNRHR P30968 p.Thr237Asn rs139615318 variant of unknown significance
Detail
0.31 (T)
0.451 (N)
N
21 GNRHR P30968 p.Arg240Gln rs182531866 variant of unknown significance
Detail
(-)
(-)
N
22 GNRHR P30968 p.Glu248Lys rs150597013 variant of unknown significance
Detail
0.92 (T)
0 (N)
N
23 GNRHR P30968 p.Arg262Gln rs104893837 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.03 (D)
0.972 (D)
N
24 GNRHR P30968 p.Leu266Arg rs148499544 variant of unknown significance
Detail
0.00 (D)
0.999 (D)
N
25 GNRHR P30968 p.Tyr284Cys rs28933074 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Detail
0.01 (D)
1 (D)
N
26 GNRHR P30968 p.Pro320Leu rs104893847 HYPOGONADOTROPIC HYPOGONADISM [MIM:138850#0014]
Detail
0.00 (D)
1 (D)
N