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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 CTH P32929 p.Asp5Glu rs143859234 variant of unknown significance
Detail
1.00 (T)
0 (N)
N
2 CTH P32929 p.Thr67Ile rs28941785 Cystathioninuria (CSTNU) [MIM:219500]
3cog
D
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 CTH P32929 p.Gly90Ser rs28595301 variant of unknown significance
3cog
D
Detail
0.00 (D)
1 (D)
N
4 CTH P32929 p.Ala103Ser rs143018789 variant of unknown significance
3cog
D
Detail
0.75 (T)
0 (N)
N
5 CTH P32929 p.Val166Met rs149505686 variant of unknown significance
3cog
D
Detail
0.07 (T)
0.124 (N)
D ( Predicted by rules : 1 )
3 CTH P32929 p.Gly171Ala rs148637178 variant of unknown significance
3cog
D
Detail
1.00 (T)
0 (N)
N
4 CTH P32929 p.Ile175Asn rs142087996 variant of unknown significance
3cog
D
Detail
0.02 (D)
0.42 (N)
N
5 CTH P32929 p.Arg197His rs142475948 variant of unknown significance
3cog
D
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 CTH P32929 p.Met207Val rs146873974 variant of unknown significance
3cog
D
Detail
1.00 (T)
0.011 (N)
N
4 CTH P32929 p.Tyr208His rs180856886 variant of unknown significance
3cog
D
Detail
(-)
(-)
D ( Predicted by rules : 1 2 )
4 CTH P32929 p.Val227Leu rs145300493 variant of unknown significance
3cog
D
Detail
0.29 (T)
0 (N)
N
5 CTH P32929 p.Cys229Arg rs145785987 variant of unknown significance
3cog
D
Detail
0.72 (T)
0 (N)
N
6 CTH P32929 p.Arg237Cys rs139166171 variant of unknown significance
3cog
D
Detail
0.16 (T)
1 (D)
N
7 CTH P32929 p.Gln240Glu rs28941786 Cystathioninuria (CSTNU) [MIM:219500]
3cog
D
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 CTH P32929 p.Gln278His rs150167732 variant of unknown significance
3cog
D
Detail
0.06 (T)
0.087 (N)
N
6 CTH P32929 p.Asp391Gly rs144875036 variant of unknown significance
3cog
D
Detail
0.14 (T)
0.051 (N)
N
7 CTH P32929 p.Ser403Ile rs1021737 variant of unknown significance
Detail
0.27 (T)
0 (N)
N