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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 HSPB8 Q9UJY1 p.Gln5Arg rs146900850 variant of unknown significance
Detail
0.50 (T)
0.837 (D)
N
2 HSPB8 Q9UJY1 p.Asp38Glu rs141871482 variant of unknown significance
Detail
0.97 (T)
0.054 (N)
N
3 HSPB8 Q9UJY1 p.Ser66Leu rs140173724 variant of unknown significance
Detail
0.35 (T)
0.14 (N)
N
4 HSPB8 Q9UJY1 p.Arg78Met rs55826713 variant of unknown significance
Detail
0.27 (T)
0.269 (N)
N
5 HSPB8 Q9UJY1 p.Pro89Arg rs35909818 variant of unknown significance
Detail
0.65 (T)
0.806 (D)
N
6 HSPB8 Q9UJY1 p.Pro107Ala rs146000958 variant of unknown significance
Detail
0.14 (T)
0.994 (D)
N
7 HSPB8 Q9UJY1 p.His125Arg rs138733926 variant of unknown significance
Detail
0.01 (D)
0.999 (D)
N
8 HSPB8 Q9UJY1 p.Lys141Asn rs104894345 Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]
Detail
0.01 (D)
0.999 (D)
N
9 HSPB8 Q9UJY1 p.Lys141Glu rs104894351 Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]
Detail
0.01 (D)
0.994 (D)
N
10 HSPB8 Q9UJY1 p.Leu158Phe rs144662422 variant of unknown significance
Detail
0.07 (T)
1 (D)
N
11 HSPB8 Q9UJY1 p.Glu167Lys rs148514935 variant of unknown significance
Detail
0.21 (T)
0.999 (D)
N
12 HSPB8 Q9UJY1 p.Glu179Gln rs74740454 variant of unknown significance
Detail
0.14 (T)
0.494 (N)
N