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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 NSDHL Q15738 p.Met9Val rs35529894 variant of unknown significance
Detail
0.53 (T)
0.001 (N)
N
2 NSDHL Q15738 p.Ala14Thr rs147318065 variant of unknown significance
Detail
0.54 (T)
0 (N)
N
3 NSDHL Q15738 p.Ala14Val rs141007145 variant of unknown significance
Detail
0.72 (T)
0 (N)
N
4 NSDHL Q15738 p.Arg15Trp rs121909832 variant of unknown significance
Detail
0.09 (T)
0.968 (D)
N
5 NSDHL Q15738 p.Asp28Gly rs144891548 variant of unknown significance
Detail
0.41 (T)
0.355 (N)
N
6 NSDHL Q15738 p.Gln34Glu rs34882444 variant of unknown significance
Detail
0.98 (T)
0.008 (N)
N
7 NSDHL Q15738 p.Lys38Arg rs192455721 variant of unknown significance
Detail
(-)
(-)
N
8 NSDHL Q15738 p.Met53Val rs151196938 variant of unknown significance
Detail
0.55 (T)
0.001 (N)
N
9 NSDHL Q15738 p.Val78Ala rs140327958 variant of unknown significance
Detail
0.38 (T)
0.279 (N)
N
10 NSDHL Q15738 p.Gln89Glu rs145580873 variant of unknown significance
Detail
1.00 (T)
0.003 (N)
N
11 NSDHL Q15738 p.Leu95Val rs138562213 variant of unknown significance
Detail
0.30 (T)
0.029 (N)
N
12 NSDHL Q15738 p.Ala105Val rs104894909 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
Detail
0.00 (D)
1 (D)
N
13 NSDHL Q15738 p.Asn113His rs150204893 variant of unknown significance
Detail
0.06 (T)
0.978 (D)
N
14 NSDHL Q15738 p.Gly124Ser rs137853862 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
15 NSDHL Q15738 p.Glu160Gly rs11548114 variant of unknown significance
Detail
0.09 (T)
1 (D)
N
16 NSDHL Q15738 p.Ala182Pro rs104894904 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
Detail
0.26 (T)
0.275 (N)
N
17 NSDHL Q15738 p.Ile198Leu rs143684465 variant of unknown significance
Detail
0.94 (T)
0.646 (D)
N
18 NSDHL Q15738 p.Gly205Ser rs104894901 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]
Detail
0.01 (D)
1 (D)
N
19 NSDHL Q15738 p.Glu217Lys rs138492835 variant of unknown significance
Detail
0.71 (T)
0.221 (N)
N
20 NSDHL Q15738 p.Ala219Thr rs11548112 variant of unknown significance
Detail
0.27 (T)
1 (D)
N
21 NSDHL Q15738 p.Asn221Ser rs143956361 variant of unknown significance
Detail
0.75 (T)
0 (N)
N
22 NSDHL Q15738 p.Gln253Lys rs141571609 variant of unknown significance
Detail
0.93 (T)
0 (N)
N
23 NSDHL Q15738 p.Pro274Arg rs139439305 variant of unknown significance
Detail
0.42 (T)
0.04 (N)
N
24 NSDHL Q15738 p.Arg281Cys rs146686014 variant of unknown significance
Detail
0.06 (T)
1 (D)
N
25 NSDHL Q15738 p.Trp298Leu rs139186585 variant of unknown significance
Detail
0.66 (T)
0 (N)
N
26 NSDHL Q15738 p.Tyr301His rs144110486 variant of unknown significance
Detail
0.25 (T)
0.999 (D)
N
27 NSDHL Q15738 p.Tyr349Cys rs137853863 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
28 NSDHL Q15738 p.Glu360Val rs11548113 variant of unknown significance
Detail
0.22 (T)
0.001 (N)
N
29 NSDHL Q15738 p.Arg370Gln rs140430695 variant of unknown significance
Detail
0.63 (T)
0.997 (D)
N
30 NSDHL Q15738 p.Arg370Trp rs151248633 variant of unknown significance
Detail
0.05 (T)
1 (D)
N