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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 QDPR P09417 p.Leu14Pro - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 QDPR P09417 p.Gly17Arg - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 )
9 QDPR P09417 p.Gly17Val - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 QDPR P09417 p.Gly18Asp - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 QDPR P09417 p.Gly23Asp rs104893863 BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 QDPR P09417 p.Arg25Gly rs11556809 variant of unknown significance
1dir
A
Detail
0.27 (T)
0.33 (N)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Trp36Arg rs104893865 BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.64 (T)
0.956 (D)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Ala50Thr rs143937910 variant of unknown significance
1dir
A
Detail
0.61 (T)
0.153 (N)
N
4 QDPR P09417 p.Ser51Asn rs187958701 variant of unknown significance
1dir
A
Detail
(-)
(-)
N
5 QDPR P09417 p.Ser51Thr - variant of unknown significance
1dir
A
Detail
0.65 (T)
0.002 (N)
N
6 QDPR P09417 p.Gln66Arg - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.55 (T)
0.076 (N)
N
7 QDPR P09417 p.Leu74Pro - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.18 (T)
0.928 (D)
D ( Predicted by rules : 1 2 )
4 QDPR P09417 p.Val86Ile rs186929388 variant of unknown significance
1dir
A
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Ala91Ser rs147257284 variant of unknown significance
1dir
A
Detail
0.22 (T)
0.121 (N)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Trp108Gly rs104893864 BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.18 (T)
0.998 (D)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Ile112Val rs112686538 variant of unknown significance
1dir
A
Detail
1.00 (T)
0 (N)
N
4 QDPR P09417 p.Ser119Gly rs141523947 variant of unknown significance
1dir
A
Detail
0.18 (T)
0.189 (N)
N
5 QDPR P09417 p.His120Arg rs148369556 variant of unknown significance
1dir
A
Detail
0.47 (T)
0.016 (N)
N
6 QDPR P09417 p.Asp142Gly rs138542030 variant of unknown significance
1dir
A
Detail
0.40 (T)
0 (N)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Pro145Leu - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.01 (D)
0.997 (D)
N
4 QDPR P09417 p.Gly146Ala rs144673363 variant of unknown significance
1dir
A
Detail
0.09 (T)
0.895 (D)
N
5 QDPR P09417 p.Gly149Arg - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 )
3 QDPR P09417 p.Tyr150Cys rs104893866 BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 QDPR P09417 p.Gly151Ser - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.09 (T)
1 (D)
N
6 QDPR P09417 p.His158Tyr - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.10 (T)
0.998 (D)
D ( Predicted by rules : 1 2 )
4 QDPR P09417 p.Gly170Ser - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.40 (T)
0.987 (D)
N
5 QDPR P09417 p.Glu196Asp rs112209600 variant of unknown significance
1dir
A
Detail
1.00 (T)
0 (N)
N
6 QDPR P09417 p.Ser200Arg rs112242659 variant of unknown significance
1dir
A
Detail
0.06 (T)
0.419 (N)
N
7 QDPR P09417 p.Phe212Cys - BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
1dir
A
Detail
0.01 (D)
0.995 (D)
D ( Predicted by rules : 1 )