1
M
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs771702963
1
M
T
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs771702963
1
M
V
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033639
9
Q
H
GALAC1 (from: UniProt); dbSNP:rs111033637
23
T
A
GALAC1 (from: UniProt); dbSNP:rs111033635
28
D
H
GALAC1 (from: UniProt); dbSNP:rs111033636
28
D
Y
GALAC1 (from: UniProt); dbSNP:rs111033636
29
H
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132341442
31
H
N
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033643
32
I
N
GALAC1; mild (from: UniProt); dbSNP:rs111033644
33
R
H
GALAC1 (from: UniProt); dbSNP:rs111033829
33
R
P
GALAC1 (from: UniProt)
34
Y
H
34
Y
N
GALAC1; affects protein stability (from: UniProt); dbSNP:rs111033836
38
Q
P
GALAC1 (from: UniProt); dbSNP:rs111033646
40
E
K
; dbSNP:rs886042060
44
V
L
GALAC1 (from: UniProt); dbSNP:rs111033647
44
V
M
GALAC1; reduced enzyme activity (from: UniProt); dbSNP:rs111033647
45
S
L
GALAC1 (from: UniProt); dbSNP:rs111033652
45
S
P
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132341560
48
R
C
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs886042088
48
R
S
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs886042088
51
R
L
GALAC1 (from: UniProt); dbSNP:rs111033648
51
R
Q
GALAC1 (from: UniProt); dbSNP:rs111033648
52
P
R
; dbSNP:rs2132341621
53
W
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1131691837
55
G
C
GALAC1 (from: UniProt); dbSNP:rs111033654
67
R
C
GALAC1 (from: UniProt); dbSNP:rs111033658
67
R
H
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA); dbSNP:rs758430398
68
H
P
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs193922247
68
H
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs193922247
74
L
P
GALAC1; reduced enzyme activity (from: UniProt); dbSNP:rs111033663
74
L
R
81
A
P
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033665
81
A
T
GALAC1 (from: UniProt); dbSNP:rs111033665
83
G
V
GALAC1 (from: UniProt)
89
Y
D
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033666
89
Y
H
GALAC1 (from: UniProt); dbSNP:rs111033666
97
N
D
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1564100957
97
N
I
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033669
97
N
K
; dbSNP:rs398123180
97
N
S
GALAC1 (from: UniProt); dbSNP:rs111033669
98
D
H
GALT-related disorder (from: ClinVar); dbSNP:rs111033670
98
D
N
GALAC1 (from: UniProt); dbSNP:rs111033670
100
P
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1057524572
103
Q
R
GALAC1 (from: UniProt); dbSNP:rs367543252
112
S
R
GALAC1 (from: UniProt); dbSNP:rs367543254
113
D
N
GALAC1 (from: UniProt); dbSNP:rs111033677
114
H
L
GALAC1 (from: UniProt); dbSNP:rs111033678
117
F
S
GALAC1 (from: UniProt); dbSNP:rs111033679
118
Q
H
GALAC1 (from: UniProt); dbSNP:rs111033673
123
R
G
GALAC1 (from: UniProt); dbSNP:rs111033674
123
R
Q
GALAC1 (from: UniProt); dbSNP:rs111033675
125
V
A
GALAC1 (from: UniProt); dbSNP:rs111033680
127
K
E
GALAC1 (from: UniProt); dbSNP:rs111033682
129
M
L
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs193922248
129
M
T
GALAC1 (from: UniProt); dbSNP:rs111033683
130
C
Y
GALAC1 (from: UniProt); dbSNP:rs367543255
132
H
Q
GALAC1; affects protein stability (from: UniProt); dbSNP:rs367543256
132
H
Y
GALAC1 (from: UniProt); dbSNP:rs111033688
135
S
A
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132343082
135
S
L
GALT-related disorder (from: ClinVar); dbSNP:rs111033690
135
S
W
GALAC1 (from: UniProt); dbSNP:rs111033690
138
T
M
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA); dbSNP:rs111033686
138
T
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033686
139
L
P
GALAC1 (from: UniProt); dbSNP:rs111033687
142
M
K
GALAC1; 4% of normal activity (from: UniProt); dbSNP:rs111033695
142
M
T
GALAC1 (from: UniProt); dbSNP:rs111033695
142
M
V
GALAC1 (from: UniProt); dbSNP:rs111033692
143
S
L
GALAC1 (from: UniProt); dbSNP:rs111033697
143
S
W
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033697
147
I
V
148
R
G
GALAC1 (from: UniProt); dbSNP:rs111033693
148
R
Q
GALAC1 (from: UniProt); dbSNP:rs111033694
148
R
W
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033693
150
V
L
GALAC1 (from: UniProt); dbSNP:rs111033699
151
V
A
GALAC1; approximately 3% of normal activity (from: UniProt); dbSNP:rs111033701
154
W
G
GALAC1 (from: UniProt); dbSNP:rs111033702
154
W
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033702
156
S
L
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA); dbSNP:rs766896883
157
V
I
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1173928130
166
P
A
GALAC1 (from: UniProt); dbSNP:rs367543257
167
W
C
167
W
G
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033708
167
W
R
GALAC1 (from: UniProt); dbSNP:rs111033708
168
V
L
GALAC1; loss of activity (from: UniProt); dbSNP:rs367543258
168
V
M
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs367543258
169
Q
H
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA)
169
Q
K
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033709
170
I
T
GALAC1; loss of activity (from: UniProt); dbSNP:rs111033839
171
F
S
GALAC1; reduced enzyme activity (from: UniProt); dbSNP:rs111033715
172
E
K
172
E
Q
175
G
D
GALAC1; strongly reduces galactose uridylyltransferase activity (from: UniProt); dbSNP:rs111033718
177
M
T
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132343692
179
G
D
GALAC1 (from: UniProt); dbSNP:rs111033720
181
S
A
GALAC1 (from: UniProt); dbSNP:rs111033828
181
S
F
GALAC1 (from: UniProt); dbSNP:rs367543259
183
P
T
GALAC1 (from: UniProt); dbSNP:rs111033721
184
H
D
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033716
184
H
Q
GALAC1 (from: UniProt); dbSNP:rs111033717
184
H
Y
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033716
185
P
H
GALAC1; loss of activity (from: UniProt); dbSNP:rs111033722
185
P
L
GALAC1 (from: UniProt); dbSNP:rs111033722
185
P
S
GALAC1 (from: UniProt); dbSNP:rs111033826
186
H
N
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033725
186
H
Q
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs886042097
186
H
Y
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033725
188
Q
K
; dbSNP:rs398123182
188
Q
R
GALAC1; most common mutation; 10% of normal galactose uridylyltransferase activity; impairs protein folding (from: UniProt); dbSNP:rs75391579
190
W
R
GALT-related disorder (from: ClinVar); dbSNP:rs398123184
191
A
D
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs794727838
191
A
V
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs794727838
192
S
G
GALAC1 (from: UniProt); dbSNP:rs111033830
192
S
N
GALAC1 (from: UniProt); dbSNP:rs111033734
194
F
L
GALAC1 (from: UniProt); dbSNP:rs111033726
195
L
P
GALT-related disorder (from: ClinVar); dbSNP:rs111033728
195
L
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033728
196
P
A
196
P
L
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs886042066
197
D
G
GALT-related disorder (from: ClinVar); dbSNP:rs1554709359
198
I
M
GALAC1 (from: UniProt); dbSNP:rs111033729
198
I
T
GALAC1 (from: UniProt); dbSNP:rs1483461355
199
A
T
GALAC1 (from: UniProt); dbSNP:rs111033730
201
R
C
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033739
201
R
H
GALAC1 (from: UniProt); dbSNP:rs111033735
201
R
P
202
E
K
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132344159
203
E
G
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132344172
203
E
K
GALAC1 (from: UniProt); dbSNP:rs111033736
204
R
*
Variant assessed as Somatic; HIGH impact. (from: NCI-TCGA); dbSNP:rs111033737
204
R
L
204
R
P
GALAC1 (from: UniProt); dbSNP:rs111033740
204
R
Q
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033740
206
Q
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1587239309
207
Q
E
209
Y
C
GALAC1 (from: UniProt); dbSNP:rs111033744
209
Y
D
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132344222
209
Y
S
GALAC1 (from: UniProt); dbSNP:rs111033744
212
Q
H
GALAC1 (from: UniProt)
217
L
P
GALAC1 (from: UniProt); dbSNP:rs111033741
220
E
K
GALAC1; 3-fold decrease in activity (from: UniProt); dbSNP:rs111033747
223
R
C
Premature ovarian failure (from: ClinVar); dbSNP:rs111033750
223
R
H
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA); dbSNP:rs553769637
223
R
L
223
R
S
GALAC1; 3-fold decrease in activity (from: UniProt); dbSNP:rs111033750
226
L
P
GALAC1 (from: UniProt); dbSNP:rs111033752
227
L
P
GALAC1; results in no detectable protein in the soluble fraction (from: UniProt); dbSNP:rs111033846
229
K
N
GALAC1 (from: UniProt); dbSNP:rs111033753
231
R
C
GALAC1 (from: UniProt); dbSNP:rs111033749
231
R
G
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033749
231
R
H
GALAC1; 15% of normal activity (from: UniProt); dbSNP:rs111033754
244
P
S
GALAC1 (from: UniProt)
249
W
R
GALAC1 (from: UniProt); dbSNP:rs111033757
250
P
T
; dbSNP:rs111033759
251
Y
C
GALAC1 (from: UniProt); dbSNP:rs111033755
251
Y
S
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs886043390
251
Y
S
GALAC1 (from: UniProt); dbSNP:rs111033755
252
Q
H
GALAC1 (from: UniProt); dbSNP:rs111033769
258
R
C
GALAC1 (from: UniProt); dbSNP:rs368166217
259
R
Q
GALAC1; loss of activity (from: UniProt); dbSNP:rs886042070
259
R
W
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs786204763
262
R
P
GALAC1 (from: UniProt); dbSNP:rs111033763
265
P
A
GALAC1 (from: UniProt); dbSNP:rs111033764
267
L
R
GALAC1 (from: UniProt)
267
L
V
GALAC1 (from: UniProt)
271
E
D
GALAC1 (from: UniProt); dbSNP:rs1262475195
271
E
G
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033765
272
R
C
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA); dbSNP:rs111033766
272
R
G
GALAC1 (from: UniProt); dbSNP:rs111033766
272
R
H
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033831
272
R
L
275
L
V
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs796051967
278
I
N
GALAC1; 18-fold decrease in activity (from: UniProt); dbSNP:rs111033778
279
M
R
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033779
279
M
T
279
M
V
282
L
V
GALAC1 (from: UniProt); dbSNP:rs111033772
285
K
N
GALAC1; severe; impairs protein folding; nearly abolishes enzyme activity (from: UniProt); dbSNP:rs111033773
285
K
Q
285
K
R
GALAC1 (from: UniProt); dbSNP:rs367543263
289
L
F
GALAC1; 3-fold decrease in activity (from: UniProt); dbSNP:rs111033774
289
L
R
GALAC1 (from: UniProt); dbSNP:rs111033775
291
E
K
GALAC1 (from: UniProt); dbSNP:rs111033780
291
E
V
GALAC1; 2-fold decrease in activity (from: UniProt); dbSNP:rs111033841
294
F
Y
GALAC1 (from: UniProt); dbSNP:rs111033781
295
P
T
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033783
298
M
I
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1821187550
298
M
V
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1821187430
299
G
S
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1587240180
300
W
C
304
P
S
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs2132346162
308
E
K
GALAC1 (from: UniProt); dbSNP:rs111033784
314
N
D
GALT-related disorder (from: ClinVar); dbSNP:rs2070074
317
Q
H
GALAC1 (from: UniProt); dbSNP:rs111033787
317
Q
R
GALAC1 (from: UniProt); dbSNP:rs111033786
319
H
Q
GALAC1 (from: UniProt); dbSNP:rs111033792
320
A
T
GALAC1 (from: UniProt); dbSNP:rs111033795
321
H
Y
GALT-related disorder (from: ClinVar); dbSNP:rs367543266
323
Y
C
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs367543267
323
Y
D
GALAC1 (from: UniProt); dbSNP:rs111033796
323
Y
H
GALAC1 (from: UniProt); dbSNP:rs111033796
324
P
S
GALAC1 (from: UniProt); dbSNP:rs111033798
325
P
L
GALAC1 (from: UniProt); dbSNP:rs111033794
327
L
P
GALAC1; results in no detectable protein in the soluble fraction (from: UniProt); dbSNP:rs111033832
328
R
C
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs144993986
328
R
H
GALAC1 (from: UniProt); dbSNP:rs111033802
329
S
F
GALAC1 (from: UniProt); dbSNP:rs111033803
329
S
P
; dbSNP:rs398123188
330
A
V
GALAC1; mild (from: UniProt); dbSNP:rs111033804
333
R
G
GALAC1 (from: UniProt); dbSNP:rs111033800
333
R
L
GALAC1 (from: UniProt); dbSNP:rs111033808
333
R
Q
GALAC1 (from: UniProt); dbSNP:rs111033808
333
R
W
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033800
334
K
R
GALAC1 (from: UniProt); dbSNP:rs111033809
336
M
L
GALAC1 (from: UniProt); dbSNP:rs111033810
336
M
V
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs111033810
340
E
K
Variant assessed as Somatic; MODERATE impact. (from: NCI-TCGA); dbSNP:rs111033806
342
L
I
GALAC1 (from: UniProt); dbSNP:rs111033812
344
Q
K
GALAC1 (from: UniProt); dbSNP:rs111033814
345
A
D
GALAC1 (from: UniProt); dbSNP:rs111033815
350
T
A
GALAC1; mild (from: UniProt); dbSNP:rs111033817
350
T
I
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs775317639
350
T
N
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs775317639
350
T
S
352
E
G
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs1821203474
352
E
Q
353
Q
E
363
E
K
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (from: ClinVar); dbSNP:rs367543273