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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GALT P07902 p.Met1Val rs111033639 variant of unknown significance
Detail
0.28 (T)
0.003 (N)
N
2 GALT P07902 p.Gln9His rs111033637 variant of unknown significance
Detail
0.12 (T)
0.03 (N)
N
3 GALT P07902 p.Thr23Ala rs111033635 variant of unknown significance
1guq
A
Detail
0.75 (T)
0.001 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Asp28Asn rs111033636 variant of unknown significance
1guq
A
Detail
0.43 (T)
0.014 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Asp28Tyr rs111033636 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
0.595 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Gln30His rs111033834 variant of unknown significance
1guq
A
Detail
0.03 (D)
0.935 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.His31Asn rs111033643 variant of unknown significance
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ile32Asn rs111033644 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.04 (D)
0.623 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg33His rs111033829 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Tyr34Asn rs111033836 variant of unknown significance
1guq
A
Detail
0.06 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Pro36Leu rs111033645 variant of unknown significance
1guq
A
Detail
0.15 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Gln38Pro rs111033646 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.28 (T)
0.366 (N)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Val44Leu rs111033647 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.12 (T)
0.997 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Val44Met rs111033647 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Ser45Leu rs111033652 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg51Leu rs111033648 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Arg51Gln rs111033648 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Gly55Cys rs111033654 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.09 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Pro59His rs139056441 variant of unknown significance
1guq
A
Detail
0.12 (T)
0.004 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Leu62Met rs1800461 variant of unknown significance
1guq
A
Detail
0.10 (T)
0.599 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Pro66Leu rs111033656 variant of unknown significance
1guq
A
Detail
0.07 (T)
0.699 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Pro66His rs111033656 variant of unknown significance
1guq
A
Detail
0.02 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg67Cys rs111033658 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
0.999 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Leu71Phe rs143994870 variant of unknown significance
1guq
A
Detail
0.08 (T)
0.046 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Leu74Pro rs111033663 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Ala81Thr rs111033665 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.44 (T)
0.947 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Gly83Arg rs111033660 variant of unknown significance
1guq
A
Detail
0.12 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Tyr89Asp rs111033666 variant of unknown significance
1guq
A
Detail
0.31 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Phe95Leu rs111033668 variant of unknown significance
1guq
A
Detail
0.02 (D)
0.994 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Asn97Ser rs111033669 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.289 (N)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Asp98His rs111033670 variant of unknown significance
1guq
A
Detail
0.11 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Asp98Asn rs111033670 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.21 (T)
0.994 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Asp113Asn rs111033677 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.54 (T)
0.013 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.His114Leu - Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.49 (T)
0.063 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.His114Pro rs111033678 variant of unknown significance
1guq
A
Detail
0.31 (T)
0 (N)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Phe117Ser rs111033679 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.13 (T)
0.975 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Gln118His rs111033673 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.54 (T)
0.014 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg123Gln rs111033675 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.58 (T)
0.016 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg123Gly rs111033674 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.48 (T)
0.62 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Val125Ala rs111033680 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.77 (T)
0.605 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Lys127Glu rs111033682 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
1.00 (T)
0.807 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Met129Thr rs111033683 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.104 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Cys130Tyr - Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Phe131Cys rs111033684 variant of unknown significance
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.His132Tyr rs111033688 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.06 (T)
0.32 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Ser135Trp rs111033690 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GALT P07902 p.Ser135Leu rs111033690 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.12 (T)
0.997 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Thr138Met rs111033686 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Leu139Pro rs111033687 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Met142Val rs111033692 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.09 (T)
0.987 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Met142Lys rs111033695 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GALT P07902 p.Met142Thr rs111033695 GALACTOSEMIA [MIM:606999#0001]
1guq
A
Detail
0.01 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Ser143Leu rs111033697 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.08 (T)
0.946 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg148Gln rs111033694 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.61 (T)
0.916 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg148Gly rs111033693 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.39 (T)
0.219 (N)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Arg148Trp rs111033693 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Val150Leu rs111033699 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.36 (T)
0.995 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Val151Ala rs111033701 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
0.754 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Trp154Gly rs111033702 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Trp154Arg rs111033702 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Leu161Pro rs111033700 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Trp167Arg rs111033708 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Gln169Lys rs111033709 variant of unknown significance
1guq
A
Detail
0.11 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Ile170Asn rs111033839 variant of unknown significance
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ile170Thr rs111033839 variant of unknown significance
1guq
A
Detail
0.12 (T)
0.994 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Phe171Ser rs111033715 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Gly175Asp rs111033718 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Gly179Asp rs111033720 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Cys180Phe rs111033844 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Ser181Ala rs111033828 variant of unknown significance
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Pro183Thr rs111033721 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.16 (T)
0.144 (N)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.His184Asp rs111033716 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.His184Gln rs111033717 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Pro185His rs111033722 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 8 9 )
11 GALT P07902 p.Pro185Leu rs111033722 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 8 9 10 11 )
13 GALT P07902 p.Pro185Ser rs111033826 variant of unknown significance
1guq
A
Detail
0.14 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GALT P07902 p.His186Tyr rs111033725 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Gln188Arg rs75391579 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ser192Asn rs111033734 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.31 (T)
0.998 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ser192Gly rs111033830 variant of unknown significance
1guq
A
Detail
0.33 (T)
0.995 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Phe194Leu rs111033726 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.28 (T)
0.996 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Leu195Pro rs111033728 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Ile198Thr - Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.38 (T)
0 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ile198Met rs111033729 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.07 (T)
0.12 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Ala199Thr rs111033730 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.33 (T)
0.917 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg201His rs111033735 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.13 (T)
0.99 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg201Cys rs111033739 variant of unknown significance
1guq
A
Detail
0.05 (T)
0.991 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Glu203Lys rs111033736 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.35 (T)
0.663 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg204Pro rs111033740 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.24 (T)
0.961 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Tyr209Ser rs111033744 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Tyr209Cys rs111033744 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Ser211Thr rs3824553 variant of unknown significance
1guq
A
Detail
0.56 (T)
0.001 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Gln212Pro rs111033833 variant of unknown significance
1guq
A
Detail
0.12 (T)
0.62 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Gln212His - Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.05 (T)
0.797 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Leu217Pro rs111033741 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Leu218Val rs2070075 GALT POLYMORPHISM (LOS ANGELES, D1) [MIM:606999#0012]
1guq
A
Detail
0.05 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Glu220Lys rs111033747 variant of unknown significance
1guq
A
Detail
0.03 (D)
0.023 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg223Ser rs111033750 variant of unknown significance
1guq
A
Detail
0.59 (T)
0.167 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Leu226Val rs111033751 variant of unknown significance
1guq
A
Detail
0.31 (T)
0.001 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Leu226Pro rs111033752 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.27 (T)
0.979 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GALT P07902 p.Leu227Pro rs111033846 variant of unknown significance
1guq
A
Detail
0.23 (T)
0.62 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Lys229Asn rs111033753 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.29 (T)
0.409 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg231His rs111033754 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 )
9 GALT P07902 p.Arg231Cys rs111033749 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 8 )
10 GALT P07902 p.Val233Leu rs111033843 variant of unknown significance
1guq
A
Detail
0.11 (T)
0.957 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Trp249Arg rs111033757 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Pro250Thr rs111033759 variant of unknown significance
1guq
A
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Tyr251Ser rs111033755 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.699 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Tyr251Cys rs111033755 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.979 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Gln252His rs111033769 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.99 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Pro257Leu rs111033845 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg258Cys - Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg259Trp - Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Arg262Pro rs111033763 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.31 (T)
0.004 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Pro265Ala rs111033764 variant of unknown significance
1guq
A
Detail
1.00 (T)
0.04 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Thr268Asn rs111033847 variant of unknown significance
1guq
A
Detail
0.29 (T)
0.003 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Glu271Gly rs111033765 variant of unknown significance
1guq
A
Detail
0.02 (D)
0.998 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg272His rs111033831 variant of unknown significance
1guq
A
Detail
0.55 (T)
0.749 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg272Gly rs111033766 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.35 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg272Cys rs111033766 variant of unknown significance
1guq
A
Detail
0.20 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Ile278Asn rs111033778 variant of unknown significance
1guq
A
Detail
0.01 (D)
0.784 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Met279Arg rs111033779 variant of unknown significance
1guq
A
Detail
0.00 (D)
0.99 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Leu282Val rs111033772 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.76 (T)
0.407 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Lys285Asn rs111033773 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.05 (T)
0.994 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Leu289Phe rs111033774 variant of unknown significance
1guq
A
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Leu289Arg rs111033775 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Glu291Val rs111033841 variant of unknown significance
1guq
A
Detail
0.22 (T)
0.944 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Glu291Lys rs111033780 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.79 (T)
0.016 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Phe294Tyr rs111033781 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Pro295Thr rs111033783 variant of unknown significance
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Thr305Ala rs150991907 variant of unknown significance
1guq
A
Detail
0.53 (T)
0.21 (N)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ser307Thr rs61735983 variant of unknown significance
1guq
A
Detail
0.74 (T)
0 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Glu308Lys rs111033784 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.91 (T)
0 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Asn314Asp rs2070074 variant of unknown significance
1guq
A
Detail
0.67 (T)
0 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Gln317His rs111033787 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
1.00 (T)
0.964 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Gln317Arg rs111033786 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.25 (T)
0.999 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.His319Gln rs111033792 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.13 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ala320Thr rs111033795 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Tyr323His rs111033796 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.06 (T)
0.946 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Tyr323Asp rs111033796 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Pro324Ser rs111033798 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Pro325Leu rs111033794 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Leu327Pro rs111033832 variant of unknown significance
1guq
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg328His rs111033802 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg328Cys rs144993986 variant of unknown significance
1guq
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GALT P07902 p.Ser329Phe rs111033803 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Ala330Val rs111033804 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Arg333Gly rs111033800 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.06 (T)
0.943 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Arg333Gln rs111033808 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.28 (T)
0.996 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GALT P07902 p.Arg333Trp rs111033800 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Lys334Arg rs111033809 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Met336Leu rs111033810 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
1.00 (T)
0.187 (N)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Glu340Ter rs111033806 variant of unknown significance
Detail
(-)
(-)
N
4 GALT P07902 p.Glu340Lys rs111033806 variant of unknown significance
1guq
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GALT P07902 p.Leu342Ile rs111033812 variant of unknown significance
1guq
A
Detail
0.37 (T)
0.974 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Gln344Lys rs111033814 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.81 (T)
0.663 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Ala345Asp rs111033815 variant of unknown significance
1guq
A
Detail
0.20 (T)
0.807 (D)
D ( Predicted by rules : 1 )
3 GALT P07902 p.Thr350Ala rs111033817 Galactosemia (GALCT) [MIM:230400]
1guq
A
Detail
0.08 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GALT P07902 p.Ile378Val rs111033819 variant of unknown significance
Detail
0.31 (T)
0 (N)
N