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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GAMT Q14353 p.Trp20Ser rs80338734 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GAMT Q14353 p.Pro40Ser rs11551914 variant of unknown significance
3orh
C
Detail
0.27 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Met50Leu rs104894694 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
0.02 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GAMT Q14353 p.His51Pro - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
0.07 (T)
0.924 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Ala54Pro - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
0.01 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Gly61Glu rs77168423 variant of unknown significance
3orh
C
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GAMT Q14353 p.Val78Met rs141358977 variant of unknown significance
3orh
C
Detail
0.05 (D)
0.022 (N)
N
6 GAMT Q14353 p.Val95Ile rs140778208 variant of unknown significance
3orh
C
Detail
0.01 (D)
0.999 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Arg105Gln rs148838075 variant of unknown significance
3orh
C
Detail
0.29 (T)
0.001 (N)
N
4 GAMT Q14353 p.Gln106Pro rs145817990 variant of unknown significance
3orh
C
Detail
0.33 (T)
0.083 (N)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Pro112Ser rs11551915 variant of unknown significance
3orh
C
Detail
0.06 (T)
1 (D)
N
4 GAMT Q14353 p.Thr146Arg rs149821870 variant of unknown significance
3orh
C
Detail
0.39 (T)
0.932 (D)
N
5 GAMT Q14353 p.Val165Phe rs1050914 variant of unknown significance
3orh
C
Detail
0.06 (T)
0.936 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Cys169Tyr rs121909272 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
1.00 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Thr192Met rs141066224 variant of unknown significance
3orh
C
Detail
0.09 (T)
1 (D)
N
4 GAMT Q14353 p.Val194Ala rs147739199 variant of unknown significance
3orh
C
Detail
0.74 (T)
0.266 (N)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Leu197Pro - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
3orh
C
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GAMT Q14353 p.Thr209Met rs17851582 variant of unknown significance
3orh
C
Detail
0.14 (T)
0.995 (D)
N
5 GAMT Q14353 p.Pro217Gln rs139890971 variant of unknown significance
3orh
C
Detail
0.24 (T)
0.985 (D)
D ( Predicted by rules : 1 )
3 GAMT Q14353 p.Asp219Asn rs150817761 variant of unknown significance
3orh
C
Detail
0.34 (T)
0.003 (N)
N
4 GAMT Q14353 p.Ala224Thr rs141471799 variant of unknown significance
3orh
C
Detail
0.72 (T)
0.011 (N)
N
5 GAMT Q14353 p.Met228Leu rs75886287 variant of unknown significance
3orh
C
Detail
0.40 (T)
0.957 (D)
D ( Predicted by rules : 1 )