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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 CYP11B1 P15538 p.Val9Met rs150163594 variant of unknown significance
Detail
0.24 (T)
0.691 (D)
N
2 CYP11B1 P15538 p.Cys10Tyr rs6405 variant of unknown significance
Detail
1.00 (T)
0.082 (N)
N
3 CYP11B1 P15538 p.Ser17Phe rs142591816 variant of unknown significance
Detail
0.25 (T)
0.847 (D)
N
4 CYP11B1 P15538 p.Thr26Met rs139569725 variant of unknown significance
Detail
0.11 (T)
0.993 (D)
N
5 CYP11B1 P15538 p.Ala29Thr rs144224988 variant of unknown significance
Detail
0.40 (T)
0 (N)
N
6 CYP11B1 P15538 p.Arg30Trp rs140274628 variant of unknown significance
Detail
0.08 (T)
0.404 (N)
N
7 CYP11B1 P15538 p.Pro42Ser rs104894069 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
1 (D)
N
8 CYP11B1 P15538 p.Arg43Gln rs4534 variant of unknown significance
Detail
0.29 (T)
0 (N)
N
9 CYP11B1 P15538 p.Asp63His rs5282 variant of unknown significance
Detail
0.28 (T)
0 (N)
N
10 CYP11B1 P15538 p.Pro77Ser rs138874844 variant of unknown significance
Detail
0.12 (T)
1 (D)
N
11 CYP11B1 P15538 p.Pro94Leu rs104894070 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
1 (D)
N
12 CYP11B1 P15538 p.Ser112Ile rs61751139 variant of unknown significance
Detail
0.18 (T)
0 (N)
N
13 CYP11B1 P15538 p.Gln121Glu rs113340222 variant of unknown significance
Detail
0.99 (T)
0 (N)
N
14 CYP11B1 P15538 p.Arg123Cys rs145050906 variant of unknown significance
Detail
0.16 (T)
0.886 (D)
N
15 CYP11B1 P15538 p.Asn133His rs104894067 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.15 (T)
1 (D)
N
16 CYP11B1 P15538 p.Asn133Asp rs104894067 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE [MIM:610613#0007]
Detail
0.28 (T)
0.997 (D)
N
17 CYP11B1 P15538 p.Asn133Lys rs144289742 variant of unknown significance
Detail
0.42 (T)
0.999 (D)
N
18 CYP11B1 P15538 p.Arg143Trp rs140336749 variant of unknown significance
Detail
0.19 (T)
0.141 (N)
N
19 CYP11B1 P15538 p.Glu147Asp rs61751148 variant of unknown significance
Detail
0.60 (T)
0 (N)
N
20 CYP11B1 P15538 p.Ser150Leu rs142484434 variant of unknown significance
Detail
0.71 (T)
0.987 (D)
N
21 CYP11B1 P15538 p.Asn152Lys rs61751149 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
22 CYP11B1 P15538 p.Met160Ile rs5287 variant of unknown significance
Detail
0.30 (T)
0.403 (N)
N
23 CYP11B1 P15538 p.Asp167Asn rs61751152 variant of unknown significance
Detail
0.01 (D)
0.998 (D)
N
24 CYP11B1 P15538 p.Lys173Arg rs142163070 variant of unknown significance
Detail
0.79 (T)
0 (N)
N
25 CYP11B1 P15538 p.Ala180Thr rs140123041 variant of unknown significance
Detail
0.37 (T)
0 (N)
N
26 CYP11B1 P15538 p.Leu204Val rs191294148 variant of unknown significance
Detail
(-)
(-)
N
27 CYP11B1 P15538 p.Asn222Thr rs5308 variant of unknown significance
Detail
(-)
(-)
N
28 CYP11B1 P15538 p.Asn222Lys rs138185120 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
29 CYP11B1 P15538 p.Met240Thr rs141397092 variant of unknown significance
Detail
0.53 (T)
0.003 (N)
N
30 CYP11B1 P15538 p.Arg246His rs148066255 variant of unknown significance
Detail
0.04 (D)
1 (D)
N
31 CYP11B1 P15538 p.Thr248Ile rs34620645 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
32 CYP11B1 P15538 p.Phe257Leu rs5288 variant of unknown significance
Detail
0.37 (T)
0.162 (N)
N
33 CYP11B1 P15538 p.Cys262Tyr rs61751155 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
34 CYP11B1 P15538 p.Tyr275His rs141368413 variant of unknown significance
Detail
0.37 (T)
0.162 (N)
N
35 CYP11B1 P15538 p.Ser281Asn rs5291 variant of unknown significance
Detail
0.53 (T)
0 (N)
N
36 CYP11B1 P15538 p.Gln285His rs191126800 variant of unknown significance
Detail
(-)
(-)
N
37 CYP11B1 P15538 p.Leu293Val rs5292 variant of unknown significance
Detail
0.24 (T)
0.912 (D)
N
38 CYP11B1 P15538 p.Thr318Met rs104894061 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
1 (D)
N
39 CYP11B1 P15538 p.Thr318Arg - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
(-)
N
40 CYP11B1 P15538 p.Thr319Met rs104894068 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
1 (D)
N
41 CYP11B1 P15538 p.Arg332Gln rs149881706 variant of unknown significance
Detail
0.08 (T)
1 (D)
N
42 CYP11B1 P15538 p.Asn335Asp rs61752766 variant of unknown significance
Detail
0.80 (T)
0 (N)
N
43 CYP11B1 P15538 p.Ala348Thr rs6407 variant of unknown significance
Detail
0.39 (T)
0.018 (N)
N
44 CYP11B1 P15538 p.Ala368Asp rs104894071 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE [MIM:610613#0017]
Detail
0.03 (D)
0.983 (D)
N
45 CYP11B1 P15538 p.Arg374Gln rs104894062 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
0.999 (D)
N
46 CYP11B1 P15538 p.Gly379Val - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.82 (T)
0.997 (D)
N
47 CYP11B1 P15538 p.Ala386Val rs76151760 variant of unknown significance
Detail
0.33 (T)
0 (N)
N
48 CYP11B1 P15538 p.Gln393Pro rs138880254 variant of unknown significance
Detail
0.28 (T)
0.999 (D)
N
49 CYP11B1 P15538 p.Arg404His rs4998896 variant of unknown significance
Detail
0.13 (T)
0 (N)
N
50 CYP11B1 P15538 p.Pro414Ala rs4998901 variant of unknown significance
Detail
0.28 (T)
0 (N)
N
51 CYP11B1 P15538 p.Glu421Lys rs181764014 variant of unknown significance
Detail
(-)
(-)
N
52 CYP11B1 P15538 p.Pro425Thr rs140810030 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
53 CYP11B1 P15538 p.Tyr439His rs5294 variant of unknown significance
Detail
0.21 (T)
0 (N)
N
54 CYP11B1 P15538 p.Arg448His rs28934586 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
1 (D)
N
55 CYP11B1 P15538 p.Arg454Cys - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.00 (D)
1 (D)
N
56 CYP11B1 P15538 p.Phe494Cys - variant of unknown significance
Detail
0.04 (D)
0.04 (N)
N