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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GSS P48637 p.Arg20Trp rs149280710 variant of unknown significance
2hgs
A
Detail
0.01 (D)
0.96 (D)
N
2 GSS P48637 p.Ala26Asp - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GSS P48637 p.Ala26Thr rs150510041 variant of unknown significance
2hgs
A
Detail
0.19 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GSS P48637 p.Pro58Leu rs112712286 variant of unknown significance
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GSS P48637 p.Arg125Cys rs28936396 GLUTATHIONE SYNTHETASE DEFICIENCY [MIM:601002#0005]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GSS P48637 p.Arg132His rs142623481 variant of unknown significance
2hgs
A
Detail
0.13 (T)
0 (N)
N
6 GSS P48637 p.Ala139Thr rs138119089 variant of unknown significance
2hgs
A
Detail
0.56 (T)
0.071 (N)
N
7 GSS P48637 p.Glu144Lys rs140328832 variant of unknown significance
2hgs
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GSS P48637 p.Arg164Gln rs121909307 GLUTATHIONE SYNTHETASE DEFICIENCY [MIM:601002#0001]
2hgs
A
Detail
0.58 (T)
0.44 (N)
D ( Predicted by rules : 1 )
3 GSS P48637 p.Pro184Ala rs113191242 variant of unknown significance
2hgs
A
Detail
1.00 (T)
0.255 (N)
N
4 GSS P48637 p.Gly187Glu rs11556224 variant of unknown significance
2hgs
A
Detail
1.00 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GSS P48637 p.Leu188Pro - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GSS P48637 p.Tyr199Cys rs138659144 variant of unknown significance
2hgs
A
Detail
0.01 (D)
1 (D)
N
6 GSS P48637 p.Gly200Ser rs193267972 variant of unknown significance
2hgs
A
Detail
(-)
(-)
N
7 GSS P48637 p.Asp219Ala - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GSS P48637 p.Asp219Gly rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.01 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GSS P48637 p.Val234Ala rs112748795 variant of unknown significance
2hgs
A
Detail
0.79 (T)
0.49 (N)
N
5 GSS P48637 p.Arg236Gln rs34239729 variant of unknown significance
2hgs
A
Detail
0.29 (T)
1 (D)
N
6 GSS P48637 p.Leu254Arg - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.32 (T)
0.999 (D)
D ( Predicted by rules : 1 )
3 GSS P48637 p.Phe255Leu rs141588364 variant of unknown significance
2hgs
A
Detail
0.73 (T)
0.029 (N)
N
4 GSS P48637 p.Arg267Trp rs121909308 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GSS P48637 p.Tyr270His - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GSS P48637 p.Tyr270Cys - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GSS P48637 p.Arg273Cys rs144955088 variant of unknown significance
2hgs
A
Detail
0.03 (D)
0.002 (N)
N
6 GSS P48637 p.Arg283Cys rs121909309 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GSS P48637 p.Leu286Gln - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.05 (D)
0.997 (D)
N
6 GSS P48637 p.Pro314Leu rs75863437 GLUTATHIONE SYNTHETASE DEFICIENCY [MIM:601002#0006]
2hgs
A
Detail
0.35 (T)
0.08 (N)
D ( Predicted by rules : 1 )
3 GSS P48637 p.Gly323Arg rs151095434 variant of unknown significance
2hgs
A
Detail
0.52 (T)
0.387 (N)
N
4 GSS P48637 p.Pro325Ser rs11905938 variant of unknown significance
2hgs
A
Detail
0.73 (T)
0.655 (D)
N
5 GSS P48637 p.Arg330Cys rs148640446 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.04 (D)
1 (D)
N
6 GSS P48637 p.Ala352Thr rs143974068 variant of unknown significance
2hgs
A
Detail
0.55 (T)
0.001 (N)
N
7 GSS P48637 p.Arg418Gln rs150141794 variant of unknown significance
2hgs
A
Detail
0.61 (T)
0.002 (N)
N
8 GSS P48637 p.Lys437Glu rs34852238 variant of unknown significance
2hgs
A
Detail
0.95 (T)
0 (N)
N
9 GSS P48637 p.Gly464Val - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GSS P48637 p.Asp469Glu - Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
2hgs
A
Detail
0.08 (T)
0.999 (D)
D ( Predicted by rules : 1 )