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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 IYD Q6PHW0 p.Val17Ala rs139564050 variant of unknown significance
Detail
(-)
(-)
N
2 IYD Q6PHW0 p.Ala61Thr rs144193430 variant of unknown significance
Detail
(-)
(-)
N
3 IYD Q6PHW0 p.His80Pro rs73617666 variant of unknown significance
3gh8
C
Detail
0.25 (T)
0.003 (N)
N
4 IYD Q6PHW0 p.Glu83Val rs143034765 variant of unknown significance
3gh8
C
Detail
(-)
(-)
N
5 IYD Q6PHW0 p.Arg101Trp rs121918138 Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
3gh8
C
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 IYD Q6PHW0 p.Asn108Ser rs111758467 variant of unknown significance
3gh8
C
Detail
0.86 (T)
0 (N)
N
5 IYD Q6PHW0 p.Ile116Thr rs121918139 Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
3gh8
C
Detail
0.00 (D)
0.997 (D)
D ( Predicted by rules : 1 )
3 IYD Q6PHW0 p.Thr122Met rs143074952 variant of unknown significance
3gh8
C
Detail
(-)
(-)
N
4 IYD Q6PHW0 p.Pro143Thr rs140539511 variant of unknown significance
3gh8
C
Detail
(-)
(-)
N
5 IYD Q6PHW0 p.Arg150Gly rs35217099 variant of unknown significance
3gh8
C
Detail
0.02 (D)
1 (D)
N
6 IYD Q6PHW0 p.Asp186His rs35430834 variant of unknown significance
3gh8
C
Detail
0.11 (T)
0.999 (D)
N
7 IYD Q6PHW0 p.His199Tyr rs144067766 variant of unknown significance
3gh8
C
Detail
(-)
(-)
N
8 IYD Q6PHW0 p.Ala202Thr rs146905706 variant of unknown significance
3gh8
C
Detail
(-)
(-)
N
9 IYD Q6PHW0 p.Ala220Thr rs121918140 THYROID DYSHORMONOGENESIS 4 [MIM:612025#0004]
3gh8
C
Detail
0.08 (T)
0.434 (N)
D ( Predicted by rules : 1 2 )
4 IYD Q6PHW0 p.Arg246Gln rs73619510 variant of unknown significance
3gh8
C
Detail
0.51 (T)
0.205 (N)
N
5 IYD Q6PHW0 p.Leu260Pro rs17854906 variant of unknown significance
3gh8
C
Detail
0.12 (T)
0.992 (D)
D ( Predicted by rules : 1 2 3 )
5 IYD Q6PHW0 p.Glu271Lys rs36063028 variant of unknown significance
3gh8
C
Detail
0.05 (D)
0.023 (N)
N
6 IYD Q6PHW0 p.Thr273Met rs141250255 variant of unknown significance
3gh8
C
Detail
(-)
(-)
N