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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 NT5C3 Q9H0P0 p.Phe36Leu rs72555707 variant of unknown significance
Detail
1.00 (T)
0.144 (N)
N
2 NT5C3 Q9H0P0 p.Ala81Pro rs150665344 variant of unknown significance
2g09
B
Detail
0.20 (T)
0 (N)
D ( Predicted by rules : 1 )
3 NT5C3 Q9H0P0 p.Lys114Gln rs144452782 variant of unknown significance
2g09
B
Detail
0.49 (T)
0.799 (D)
N
4 NT5C3 Q9H0P0 p.Tyr131Cys rs139174493 variant of unknown significance
2g09
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 NT5C3 Q9H0P0 p.Asp137Val rs104894025 P5N deficiency (P5ND) [MIM:266120]
2g09
B
Detail
0.01 (D)
0.967 (D)
D ( Predicted by rules : 1 )
3 NT5C3 Q9H0P0 p.Thr141Ala rs141651499 variant of unknown significance
2g09
B
Detail
0.12 (T)
0.021 (N)
D ( Predicted by rules : 1 )
3 NT5C3 Q9H0P0 p.Thr154Ala rs143874512 variant of unknown significance
2g09
B
Detail
0.88 (T)
0.018 (N)
N
4 NT5C3 Q9H0P0 p.Ser156Leu rs149525779 variant of unknown significance
2g09
B
Detail
0.12 (T)
0.81 (D)
D ( Predicted by rules : 1 2 )
4 NT5C3 Q9H0P0 p.Leu181Pro - P5N deficiency (P5ND) [MIM:266120]
2g09
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 NT5C3 Q9H0P0 p.Asn187His rs186325627 variant of unknown significance
2g09
B
Detail
(-)
(-)
N
5 NT5C3 Q9H0P0 p.Arg215His rs138108298 variant of unknown significance
2g09
B
Detail
0.29 (T)
0.008 (N)
N
6 NT5C3 Q9H0P0 p.Val224Ile rs181671227 variant of unknown significance
2g09
B
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 NT5C3 Q9H0P0 p.Asn229Ser rs104894028 P5N deficiency (P5ND) [MIM:266120]
2g09
B
Detail
0.00 (D)
1 (D)
N
4 NT5C3 Q9H0P0 p.Asn264Ser rs142248153 variant of unknown significance
2g09
B
Detail
0.74 (T)
0 (N)
N
5 NT5C3 Q9H0P0 p.Gly280Arg rs104894029 P5N deficiency (P5ND) [MIM:266120]
2g09
B
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 NT5C3 Q9H0P0 p.Glu306Asp rs138845909 variant of unknown significance
2g09
B
Detail
0.35 (T)
0.471 (N)
D ( Predicted by rules : 1 2 3 )
5 NT5C3 Q9H0P0 p.Asp322His rs72555750 variant of unknown significance
2g09
B
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 NT5C3 Q9H0P0 p.Asp322Gly rs79747830 variant of unknown significance
2g09
B
Detail
0.00 (D)
0.991 (D)
D ( Predicted by rules : 1 2 3 4 )
6 NT5C3 Q9H0P0 p.Ile335Thr rs141650313 variant of unknown significance
2g09
B
Detail
0.11 (T)
0.046 (N)
N