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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PCBD1 P61457 p.Arg31Cys rs11554325 variant of unknown significance
1f93
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PCBD1 P61457 p.Met50Leu rs141167122 variant of unknown significance
1f93
A
Detail
0.05 (T)
0.998 (D)
D ( Predicted by rules : 1 )
3 PCBD1 P61457 p.Thr79Ile rs121913014 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D [MIM:126090#0003]
1f93
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 PCBD1 P61457 p.Cys82Arg rs104894177 BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
1f93
A
Detail
0.03 (D)
0.906 (D)
D ( Predicted by rules : 1 )
3 PCBD1 P61457 p.Arg88Gln rs115117837 BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
1f93
A
Detail
0.17 (T)
0.965 (D)
D ( Predicted by rules : 1 )
3 PCBD1 P61457 p.Glu97Lys - BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]
1f93
A
Detail
0.01 (D)
0.986 (D)
D ( Predicted by rules : 1 )