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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 CYP17A1 P05093 p.Met1Ile rs61754262 variant of unknown significance
Detail
0.49 (T)
0.919 (D)
N
2 CYP17A1 P05093 p.Thr11Ile rs72559703 variant of unknown significance
Detail
0.36 (T)
0.003 (N)
N
3 CYP17A1 P05093 p.Arg21Lys rs61754263 variant of unknown significance
Detail
0.94 (T)
0 (N)
N
4 CYP17A1 P05093 p.Cys22Trp rs762563 variant of unknown significance
Detail
0.02 (D)
0.502 (D)
N
5 CYP17A1 P05093 p.Pro35Leu - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
0.999 (D)
N
6 CYP17A1 P05093 p.His46Gln rs6162 variant of unknown significance
Detail
(-)
(-)
N
7 CYP17A1 P05093 p.Tyr64Ser - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.04 (D)
0.996 (D)
N
8 CYP17A1 P05093 p.Gly77Ser rs61754265 variant of unknown significance
Detail
0.36 (T)
1 (D)
N
9 CYP17A1 P05093 p.Phe93Cys rs104894146 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
0.999 (D)
N
10 CYP17A1 P05093 p.Arg96Gln rs104894153 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE [MIM:609300#0029]
Detail
0.00 (D)
1 (D)
N
11 CYP17A1 P05093 p.Arg96Trp rs104894138 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N
12 CYP17A1 P05093 p.Ala105Val rs139936404 variant of unknown significance
Detail
0.16 (T)
0 (N)
N
13 CYP17A1 P05093 p.Ser106Pro rs104894135 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.06 (T)
0.997 (D)
N
14 CYP17A1 P05093 p.Phe114Val rs104894147 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.09 (T)
0.994 (D)
N
15 CYP17A1 P05093 p.Asp116Val rs104894148 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.02 (D)
0.999 (D)
N
16 CYP17A1 P05093 p.Arg125Gln rs104894154 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE [MIM:609300#0030]
Detail
0.01 (D)
1 (D)
N
17 CYP17A1 P05093 p.Thr152Arg rs58822002 variant of unknown significance
Detail
0.58 (T)
0.026 (N)
N
18 CYP17A1 P05093 p.Gly162Arg rs141821705 variant of unknown significance
Detail
0.34 (T)
0.978 (D)
N
19 CYP17A1 P05093 p.Asn177Asp - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.07 (T)
0.999 (D)
N
20 CYP17A1 P05093 p.Val197Asp rs61754273 variant of unknown significance
Detail
0.62 (T)
0.279 (N)
N
21 CYP17A1 P05093 p.Tyr201Asn rs104894150 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL [MIM:609300#0027]
Detail
0.28 (T)
0.965 (D)
N
22 CYP17A1 P05093 p.Ser210Gly rs142435666 variant of unknown significance
Detail
0.35 (T)
0 (N)
N
23 CYP17A1 P05093 p.Lys237Glu rs187500555 variant of unknown significance
Detail
(-)
(-)
N
24 CYP17A1 P05093 p.Asp241Tyr rs61754275 variant of unknown significance
Detail
0.04 (D)
0.903 (D)
N
25 CYP17A1 P05093 p.Leu266Met rs190959000 variant of unknown significance
Detail
(-)
(-)
N
26 CYP17A1 P05093 p.Tyr329Asp rs104894144 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.09 (T)
0.385 (N)
N
27 CYP17A1 P05093 p.Glu330Lys rs142037395 variant of unknown significance
Detail
0.73 (T)
0.004 (N)
N
28 CYP17A1 P05093 p.Pro342Thr rs104894137 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.07 (T)
1 (D)
N
29 CYP17A1 P05093 p.Arg347His rs61754278 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.04 (D)
1 (D)
N
30 CYP17A1 P05093 p.Arg347Cys rs104894149 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.01 (D)
1 (D)
N
31 CYP17A1 P05093 p.Arg349Cys rs138905928 variant of unknown significance
Detail
0.11 (T)
0.006 (N)
N
32 CYP17A1 P05093 p.Arg358Gln rs104894139 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.30 (T)
1 (D)
N
33 CYP17A1 P05093 p.Arg362Cys rs104894142 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N
34 CYP17A1 P05093 p.Leu363Phe rs61754279 variant of unknown significance
Detail
0.80 (T)
0 (N)
N
35 CYP17A1 P05093 p.His373Leu - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.01 (D)
1 (D)
N
36 CYP17A1 P05093 p.Trp406Arg rs104894143 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N
37 CYP17A1 P05093 p.Arg416His rs104894155 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE [MIM:609300#0031]
Detail
0.10 (T)
1 (D)
N
38 CYP17A1 P05093 p.Phe417Cys rs104894140 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N
39 CYP17A1 P05093 p.Pro428Leu rs104894145 Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.49 (T)
1 (D)
N
40 CYP17A1 P05093 p.Arg440His - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N
41 CYP17A1 P05093 p.Phe453Ser rs104894151 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL [MIM:609300#0033]
Detail
0.02 (D)
1 (D)
N
42 CYP17A1 P05093 p.Ile455Leu rs138630127 variant of unknown significance
Detail
0.47 (T)
0.05 (N)
N
43 CYP17A1 P05093 p.Gly471Glu rs140903153 variant of unknown significance
Detail
1.00 (T)
0.05 (N)
N
44 CYP17A1 P05093 p.Arg496Cys - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N
45 CYP17A1 P05093 p.Arg496His - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Detail
0.00 (D)
1 (D)
N