Gene  Protein  AA change  dbSNP  Phenotype 

Chain  Detail 





1  ACTN4  O43707  p.Arg101Gln  rs138769040  variant of unknown significance  2r0o 
B 
Detail  0.19 (T) 
0.901 (D)  N 
2  ACTN4  O43707  p.Pro179Leu  rs149027682  variant of unknown significance  2r0o 
B 
Detail  0.07 (T) 
0.999 (D)  N 
3  ACTN4  O43707  p.Lys255Glu  rs121908415  Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]  2r0o 
B 
Detail  0.10 (T) 
0.303 (N)  
4  ACTN4  O43707  p.Thr259Ile  rs121908416  Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]  2r0o 
B 
Detail  0.04 (D) 
1 (D)  N 
5  ACTN4  O43707  p.Ser262Pro  rs121908417  Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]  2r0o 
B 
Detail  0.12 (T) 
0.999 (D)  
4  ACTN4  O43707  p.Arg310Gln  rs112545413  variant of unknown significance  Detail  0.65 (T) 
0.017 (N)  N  
5  ACTN4  O43707  p.Ala371Thr  rs147553733  variant of unknown significance  Detail  0.57 (T) 
0.233 (N)  N  
6  ACTN4  O43707  p.Met373Ile  rs112568603  variant of unknown significance  Detail  0.51 (T) 
0.001 (N)  N  
7  ACTN4  O43707  p.Gln392Glu  rs143174736  variant of unknown significance  Detail  0.84 (T) 
0.004 (N)  N  
8  ACTN4  O43707  p.Leu402Val  rs78679563  variant of unknown significance  Detail  0.31 (T) 
0.007 (N)  N  
9  ACTN4  O43707  p.Asp412Glu  rs141255361  variant of unknown significance  Detail  1.00 (T) 
0 (N)  N  
10  ACTN4  O43707  p.Glu442Lys  rs138868674  variant of unknown significance  Detail  0.91 (T) 
0.002 (N)  N  
11  ACTN4  O43707  p.Ser447Leu  rs140271107  variant of unknown significance  Detail  0.50 (T) 
0.162 (N)  N  
12  ACTN4  O43707  p.Arg494Trp  rs148781306  variant of unknown significance  Detail  0.19 (T) 
1 (D)  N  
13  ACTN4  O43707  p.Lys497Thr  rs144831680  variant of unknown significance  Detail  0.56 (T) 
0 (N)  N  
14  ACTN4  O43707  p.Ser646Cys  rs145636219  variant of unknown significance  Detail  0.19 (T) 
0 (N)  N  
15  ACTN4  O43707  p.Arg695His  rs140627564  variant of unknown significance  Detail  0.15 (T) 
0 (N)  N  
16  ACTN4  O43707  p.Lys701Arg  rs145678230  variant of unknown significance  Detail  0.55 (T) 
0.002 (N)  N  
17  ACTN4  O43707  p.Gly735Val  rs148099235  variant of unknown significance  Detail  0.28 (T) 
0.977 (D)  N  
18  ACTN4  O43707  p.Ala792Thr  rs141835608  variant of unknown significance  Detail  0.65 (T) 
0.008 (N)  N  
19  ACTN4  O43707  p.Val801Met  rs141727248  variant of unknown significance  Detail  0.21 (T) 
0.001 (N)  N  
20  ACTN4  O43707  p.Arg805Trp  rs138945157  variant of unknown significance  Detail  0.06 (T) 
0.953 (D)  N  
21  ACTN4  O43707  p.Ile832Val  rs147519672  variant of unknown significance  Detail  0.37 (T) 
0 (N)  N  
22  ACTN4  O43707  p.Pro873Leu  rs143948203  variant of unknown significance  1h8b 
A 
Detail  0.65 (T) 
0.901 (D)  N 
23  ACTN4  O43707  p.Ala881Thr  rs148628123  variant of unknown significance  1h8b 
A 
Detail  0.58 (T) 
0 (N)  N 
24  ACTN4  O43707  p.Gly888Ser  rs142064046  variant of unknown significance  1h8b 
A 
Detail  0.76 (T) 
0.936 (D)  D ( Predicted by rules : 1 ) 
3  ACTN4  O43707  p.Asp890Glu  rs113969422  variant of unknown significance  1h8b 
A 
Detail  1.00 (T) 
0 (N)  N 
4  ACTN4  O43707  p.Val892Met  rs144140192  variant of unknown significance  1h8b 
A 
Detail  0.18 (T) 
0.03 (N)  N 
5  ACTN4  O43707  p.Gly894Ser  rs141002044  variant of unknown significance  1h8b 
A 
Detail  0.78 (T) 
0.988 (D)  D ( Predicted by rules : 1 ) 
3  ACTN4  O43707  p.Thr903Met  rs150439937  variant of unknown significance  1h8b 
A 
Detail  0.07 (T) 
0.825 (D)  N 
4  ACTN4  O43707  p.Asp910Tyr  rs189577008  variant of unknown significance  1h8b 
A 
Detail  () 
()  N 