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BIOPKU : Database Search
737 records were found
Click on row to see more data details, or click on column title to sort by Nucl 1_1 on Allele1 or Nucl 2_1 on Allele 2
ID
Allele 1 Variations
Nucl 1_1
Allele 2 Variations
Nucl 2_1
Phenotype
BH4 Responder
BH4 Dosage
Test Duration
373
p.P279fsdelC
|
p.V388M
|
1162
classic PKU
No
20mg
8h
400
p.L15Sfs
|
44
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
394
p.S16XfsX1
|
47
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
658
p.S16XfsX1
|
47
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
525
p.S16XfsX1
|
47
p.R408W
|
1222
classic PKU
No
20mg
8h
659
p.L37X
|
48
p.R261Q
|
782
mild PKU
No
20mg
24h
106
IVS1+5G>A
|
60
p.H170D
|
508
mild PKU
Yes
10mg
24h
262
p.F39del
|
115
p.F39del
|
115
classic PKU
Slow
20mg
24h
375
p.F39del
|
115
p.R68S
|
204
mild PKU
No
20mg
8h
449
p.F39del
|
115
p.R111X
|
331
classic PKU
No
20mg
24h
536
p.F39del
|
115
p.R243Q
|
728
mild PKU
No
20mg
Other
352
p.F39del
|
115
p.R261X
|
781
classic PKU
Slow
20mg
8h
319
p.F39del
|
115
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
473
p.F39del
|
115
p.R408W
|
1222
mild PKU
No
20mg
24h
99
p.F39L
|
117
p.F55del
|
163
classic PKU
Yes
10mg
24h
98
p.F39L
|
117
p.F55del
|
163
classic PKU
Yes
10mg
24h
18
p.F39L
|
117
p.P122Q
|
365
mild PKU
No
20mg
8h
330
p.F39L
|
117
p.R408W
|
1222
classic PKU
Yes
10mg
24h
20
p.F39L
|
117
p.D415N
|
1243
MHPA
Yes
20mg
8h
340
p.G46S
|
136
p.R243Q
|
728
classic PKU
Yes
20mg
24h
331
p.G46S
|
136
IVS12+1G>A
|
1315
MHPA
Yes
10mg
24h
265
p.L48S
|
143
p.L48S
|
143
classic PKU
Yes
20mg
24h
397
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
24h
305
p.L48S
|
143
p.L48S
|
143
MHPA
Yes
20mg
24h
399
p.L48S
|
143
p.L48S
|
143
mild PKU
No
20mg
8h
607
p.L48S
|
143
p.L48S
|
143
classic PKU
Slow
20mg
24h
263
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
24h
58
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
8h
270
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
24h
705
p.L48S
|
143
p.L48S
|
143
classic PKU
No
20mg
24h
552
p.L48S
|
143
p.L48S
|
143
MHPA
Yes
20mg
24h
652
p.L48S
|
143
p.L48S
|
143
mild PKU
No
20mg
24h
493
p.L48S
|
143
p.L48S
|
143
classic PKU
Slow
20mg
24h
729
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
8h
467
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
24h
501
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
24h
566
p.L48S
|
143
p.L48S
|
143
classic PKU
Yes
20mg
24h
570
p.L48S
|
143
p.L48S
|
143
MHPA
Yes
20mg
24h
464
p.L48S
|
143
p.L48S
|
143
mild PKU
Yes
20mg
24h
276
p.L48S
|
143
p.F55>Lfs
|
165
mild PKU
Yes
20mg
24h
676
p.L48S
|
143
p.S67P
|
199
mild PKU
Yes
20mg
24h
494
p.L48S
|
143
IVS4+5G>T
|
441
classic PKU
No
20mg
8h
657
p.L48S
|
143
IVS4+5G>T
|
441
classic PKU
No
20mg
24h
669
p.L48S
|
143
IVS4+5G>T
|
441
classic PKU
No
20mg
24h
28
p.L48S
|
143
p.R158Q
|
473
mild PKU
Yes
20mg
8h
487
p.L48S
|
143
p.R158Q
|
473
classic PKU
Yes
20mg
24h
500
p.L48S
|
143
p.R158Q
|
473
classic PKU
No
20mg
24h
563
p.L48S
|
143
p.E178G
|
533
MHPA
Yes
20mg
24h
737
p.L48S
|
143
p.R241H
|
722
MHPA
Yes
20mg
8h
385
p.L48S
|
143
p.R243X
|
727
classic PKU
Slow
20mg
8h
396
p.L48S
|
143
p.R261X
|
781
mild PKU
No
20mg
8h
63
p.L48S
|
143
p.R261Q
|
782
mild PKU
Yes
20mg
24h
496
p.L48S
|
143
p.R261Q
|
782
mild PKU
Yes
20mg
24h
315
p.L48S
|
143
p.R261Q
|
782
mild PKU
Yes
20mg
24h
244
p.L48S
|
143
p.R261Q
|
782
mild PKU
Yes
20mg
8h
662
p.L48S
|
143
p.R261Q
|
782
mild PKU
No
20mg
Other
155
p.L48S
|
143
p.R261Q
|
782
classic PKU
Yes
20mg
8h
424
p.L48S
|
143
p.P281L
|
842
classic PKU
Yes
20mg
8h
711
p.L48S
|
143
p.P281L
|
842
mild PKU
No
20mg
24h
697
p.L48S
|
143
p.P281L
|
842
mild PKU
No
20mg
24h
622
p.L48S
|
143
p.P281L
|
842
MHPA
No
20mg
24h
472
p.L48S
|
143
p.P281L
|
842
classic PKU
No
20mg
24h
153
p.L48S
|
143
p.A309V
|
926
mild PKU
Yes
20mg
8h
678
p.L48S
|
143
p.Y343C
|
1028
mild PKU
Yes
20mg
24h
354
p.L48S
|
143
p.S349P
|
1045
classic PKU
Slow
20mg
8h
609
p.L48S
|
143
IVS10-11G>A
|
1066
mild PKU
Slow
20mg
24h
611
p.L48S
|
143
IVS10-11G>A
|
1066
classic PKU
Slow
20mg
24h
584
p.L48S
|
143
IVS10-11G>A
|
1066
mild PKU
Yes
20mg
24h
714
p.L48S
|
143
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
592
p.L48S
|
143
IVS10-11G>A
|
1066
mild PKU
Yes
20mg
24h
643
p.L48S
|
143
p.Y387H
|
1159
mild PKU
No
20mg
24h
550
p.L48S
|
143
p.E390G
|
1169
MHPA
Yes
20mg
24h
569
p.L48S
|
143
p.E390G
|
1169
MHPA
Yes
20mg
24h
535
p.L48S
|
143
p.E390G
|
1169
MHPA
Yes
20mg
24h
197
p.L48S
|
143
p.E390G
|
1169
MHPA
Yes
20mg
24h
715
p.L48S
|
143
p.A403V
|
1208
MHPA
No
20mg
24h
466
p.L48S
|
143
p.R408W
|
1222
mild PKU
Slow
20mg
24h
115
p.L48S
|
143
p.R408W
|
1222
mild PKU
No
20mg
24h
519
p.L48S
|
143
p.R408W
|
1222
classic PKU
No
20mg
24h
517
p.L48S
|
143
p.R408W
|
1222
classic PKU
No
20mg
24h
490
p.L48S
|
143
p.R408W
|
1222
classic PKU
No
20mg
24h
491
p.L48S
|
143
p.R408W
|
1222
classic PKU
No
20mg
24h
428
p.L48S
|
143
p.R408W
|
1222
mild PKU
No
20mg
48h
666
p.L48S
|
143
p.R408W
|
1222
mild PKU
No
20mg
24h
497
p.L48S
|
143
p.R408W
|
1222
classic PKU
No
20mg
24h
492
p.L48S
|
143
p.R408W
|
1222
classic PKU
No
20mg
24h
202
p.L48S
|
143
p.D415N
|
1243
MHPA
Yes
20mg
8h
289
p.R53H
|
158
IVS2-13T>G
|
169
MHPA
Yes
20mg
24h
161
p.R53H
|
158
p.R243Q
|
728
mild PKU
Yes
20mg
24h
395
p.R53H
|
158
p.R261Q
|
782
MHPA
Slow
20mg
8h
167
p.F55Lfs
|
165
p.F39del
|
115
mild PKU
Yes
20mg
8h
278
p.F55Lfs
|
165
IVS4+5G>T
|
441
MHPA
Yes
20mg
24h
411
p.F55Lfs
|
165
p.R158Q
|
473
classic PKU
No
20mg
24h
393
p.F55Lfs
|
165
p.R261Q
|
782
classic PKU
Slow
20mg
8h
23
p.F55Lfs
|
165
p.S310Y
|
929
MHPA
Yes
20mg
8h
401
p.F55Lfs
|
165
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
515
p.F55Lfs
|
165
p.E390G
|
1169
MHPA
Yes
20mg
24h
576
p.F55Lfs
|
165
p.E390G
|
1169
MHPA
Yes
20mg
24h
190
p.F55Lfs
|
165
p.A403V
|
1208
MHPA
Yes
20mg
8h
561
IVS2+5G>C
|
168
p.E178G
|
533
MHPA
Yes
20mg
24h
226
IVS2+5G>C
|
168
p.A300S
|
898
MHPA
Yes
20mg
8h
420
p.N61D
|
181
p.R261Q
|
782
mild PKU
No
20mg
8h
42
p.I65V
|
193
p.R261Q
|
782
MHPA
Yes
20mg
8h
418
p.I65V
|
193
IVS12+1G>A
|
1315
mild PKU
No
20mg
8h
419
p.I65V
|
193
IVS12+1G>A
|
1315
mild PKU
No
20mg
8h
361
p.I65T
|
194
p.I65T
|
194
classic PKU
No
20mg
8h
102
p.I65T
|
194
p.R68S
|
204
classic PKU
Yes
10mg
24h
302
p.I65T
|
194
p.I95_K96delinsK
|
284
mild PKU
Yes
20mg
24h
248
p.I65T
|
194
p.I95_K96delinsK
|
284
classic PKU
Yes
20mg
8h
413
p.I65T
|
194
p.R158Q
|
473
mild PKU
No
20mg
24h
158
p.I65T
|
194
p.S196_C203>Lfs
|
586
mild PKU
No
20mg
8h
129
p.I65T
|
194
p.P244L
|
631
mild PKU
Yes
20mg
24h
171
p.I65T
|
194
p.D222G
|
665
mild PKU
Yes
20mg
8h
378
p.I65T
|
194
p.R243X
|
c.727C>T
727
classic PKU
Slow
20mg
8h
353
p.I65T
|
194
p.R243Q
|
728
classic PKU
Slow
20mg
8h
442
p.I65T
|
194
p.R261X
|
781
classic PKU
No
20mg
24h
392
p.I65T
|
194
p.R261Q
|
782
classic PKU
Slow
20mg
8h
128
p.I65T
|
194
p.R261Q
|
782
mild PKU
No
20mg
Other
35
p.I65S
|
194
p.A300S
|
898
mild PKU
Yes
20mg
8h
122
p.I65T
|
194
p.A300S
|
898
MHPA
Yes
20mg
8h
368
p.I65T
|
194
IVS8+1G>A
|
912
classic PKU
No
20mg
8h
721
p.I65T
|
194
p.S350Y
|
1049
mild PKU
No
20mg
24h
180
p.I65T
|
194
IVS10-11G>A
|
1066
mild PKU
Yes
20mg
8h
344
p.I65T
|
194
IVS10-11G>A
|
1066
mild PKU
No
20mg
Other
389
p.I65T
|
194
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
343
p.I65T
|
194
IVS10-11G>A
|
1066
mild PKU
No
20mg
Other
172
p.I65T
|
194
p.V388M
|
1162
mild PKU
Yes
20mg
8h
139
p.I65T
|
194
p.V388M
|
1162
mild PKU
Slow
20mg
24h
175
p.I65T
|
194
p.V388M
|
1162
mild PKU
Yes
20mg
8h
325
p.I65T
|
194
p.E390G
|
1169
classic PKU
Yes
20mg
24h
108
p.I65T
|
194
p.R408W
|
1222
mild PKU
Yes
10mg
24h
107
p.I65T
|
194
p.R408W
|
1222
mild PKU
Yes
10mg
24h
131
p.I65T
|
194
p.R408Q
|
1223
mild PKU
Yes
20mg
24h
40
p.I65T
|
194
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
728
p.D75X
|
197
p.A300S
|
898
MHPA
Yes
20mg
8h
204
p.S67P
|
199
p.T92I
|
275
MHPA
Yes
20mg
8h
410
p.S67P
|
199
IVS12+1G>A
|
1315
classic PKU
No
20mg
24h
723
p.R68G
|
202
p.A403V
|
1208
MHPA
Yes
20mg
8h
9
p.R68S
|
204
p.R68S
|
204
mild PKU
Yes
20mg
8h
345
p.R68S
|
204
IVS7+3G>C
|
842
mild PKU
No
20mg
Other
332
p.R71C
|
212
p.E280K
|
838
MHPA
Yes
10mg
24h
125
p.S87R
|
261
p.S349P
|
1045
MHPA
Yes
20mg
8h
692
p.P89Pfs
|
266
p.P281R
|
842
classic PKU
No
20mg
24h
280
p.T92I
|
275
p.R261Q
|
782
MHPA
Yes
20mg
24h
414
p.I95del
|
280
IVS4+5G>T
|
441
mild PKU
No
20mg
24h
184
p.I94S
|
281
p.I94S
|
281
MHPA
Yes
20mg
8h
57
p.I94del
|
283
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
333
p.A104D
|
311
p.F299C
|
896
MHPA
Yes
10mg
24h
61
p.A104D
|
311
p.K320N
|
960
mild PKU
Yes
20mg
24h
52
p.A104D
|
311
p.K320N
|
960
mild PKU
Yes
10mg
24h
56
p.A104D
|
311
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
334
p.A104D
|
311
IVS12+1G>A
|
1315
MHPA
Yes
10mg
24h
71
p.S110L
|
329
p.P281L
|
842
MHPA
Yes
20mg
24h
702
p.R111X
|
331
p.P281L
|
842
classic PKU
No
20mg
24h
700
IVS3+1G>A
|
352
IVS3+1G>A
|
352
classic PKU
No
20mg
24h
55
IVS3-22G>A
|
353
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
62
p.P119S
|
355
IVS12+1G>A
|
1315
mild PKU
Yes
20mg
8h
170
p.P122Q
|
365
p.E76G
|
227
mild PKU
Yes
20mg
8h
364
p.P122Q
|
365
IVS10-11G>A
|
1066
classic PKU
No
20mg
48h
358
p.P122Q
|
365
IVS10-11G>A
|
1066
classic PKU
Slow
20mg
8h
69
p.D129G
|
386
p.R408W
|
1222
mild PKU
Yes
20mg
8h
670
p.D143G
|
428
p.R408W
|
1222
mild PKU
No
20mg
24h
687
IVS4+5G>T
|
441
IVS4+5G>T
|
441
classic PKU
No
20mg
24h
312
IVS4+4A>G
|
441
IVS4+4A>G
|
441
classic PKU
Yes
20mg
24h
623
IVS4+6T>C
|
441
IVS4+6T>C
|
441
classic PKU
No
20mg
24h
599
IVS4+5G>T
|
441
IVS4+5G>T
|
441
classic PKU
No
20mg
24h
619
IVS4+5G>T
|
441
IVS4+5G>T
|
441
classic PKU
No
20mg
24h
726
IVS4+5G>T
|
441
p.A300S
|
898
mild PKU
Yes
20mg
8h
656
IVS4+5G>T
|
441
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
371
IVS4+5G>T
|
441
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
591
IVS4+5G>T
|
441
p.V388M
|
1162
classic PKU
Slow
20mg
24h
231
IVS4-5C>G
|
442
IVS4-5C>G
|
442
mild PKU
Yes
20mg
8h
88
IVS4-1G>A
|
442
p.R241C
|
721
MHPA
Yes
10mg
24h
255
IVS4-5C>G
|
442
IVS10-11G>A
|
1066
mild PKU
Yes
20mg
24h
253
IVS4-5C>G
|
442
p.Y356X
|
1068
mild PKU
Yes
20mg
24h
45
IVS4-1G>A
|
442
p.A373T
|
1117
MHPA
Yes
10mg
24h
38
IVS4-5C>G
|
442
p.R408W
|
1222
mild PKU
Yes
20mg
8h
360
p.R158Q
|
473
IVS1+5G>T
|
60
mild PKU
No
20mg
8h
274
p.R158Q
|
473
p.L48S
|
143
mild PKU
Yes
20mg
24h
336
p.R158Q
|
473
p.L48S
|
143
mild PKU
Yes
20mg
24h
445
p.R158Q
|
473
IVS4+5G>T
|
441
classic PKU
No
20mg
24h
355
p.R158Q
|
473
IVS4+5G>T
|
441
classic PKU
Slow
20mg
8h
444
p.R158Q
|
473
IVS4+5G>T
|
441
classic PKU
Yes
20mg
24h
641
p.R158Q
|
473
p.R158Q
|
473
classic PKU
No
20mg
24h
188
p.R158Q
|
473
p.E178G
|
533
MHPA
Yes
20mg
8h
201
p.R158Q
|
473
p.H201Y
|
601
MHPA
Yes
20mg
8h
675
p.R158Q
|
473
p.G218V
|
653
classic PKU
Yes
20mg
24h
470
p.R158Q
|
473
p.L249P
|
746
classic PKU
No
20mg
24h
149
p.R158Q
|
473
p.R261Q
|
782
classic PKU
Yes
20mg
8h
430
p.R158Q
|
473
p.Y277D
|
829
classic PKU
No
20mg
48h
347
p.R158Q
|
473
p.E280K
|
838
classic PKU
No
20mg
Other
8
p.R158Q
|
473
p.A300S
|
898
mild PKU
Yes
20mg
8h
402
p.R158Q
|
473
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
638
p.R158Q
|
473
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
448
p.R158Q
|
473
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
689
p.R158Q
|
473
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
179
p.R158Q
|
473
p.P366H
|
1097
MHPA
Yes
20mg
8h
32
p.R158Q
|
473
p.E390G
|
1169
mild PKU
Yes
20mg
8h
211
p.R158Q
|
473
p.A403V
|
1208
MHPA
Yes
20mg
8h
679
p.R158Q
|
473
p.A403V
|
1208
MHPA
Yes
20mg
Other
486
p.R158Q
|
473
p.R408W
|
1222
classic PKU
Slow
20mg
24h
503
p.R158Q
|
473
p.R408W
|
1222
classic PKU
No
20mg
Other
43
p.R158Q
|
473
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
507
p.R158Q
|
473
IVS12+1g>a
|
1315
mild PKU
No
20mg
Other
136
p.Y168H
|
502
p.V388M
|
1162
MHPA
Yes
20mg
8h
76
p.H170D
|
508
IVS1+5G>T
|
60
MHPA
Yes
10mg
24h
381
p.R176X
|
526
p.R261Q
|
782
classic PKU
No
20mg
8h
74
p.R176X
|
526
p.A403V
|
1208
MHPA
Yes
20mg
8h
126
p.R176L
|
527
p.P281L
|
842
MHPA
Yes
20mg
8h
427
p.R176P
|
527
p.P281L
|
842
mild PKU
No
20mg
8h
568
p.V177L
|
529
IVS11+1G>T
|
1199
MHPA
Yes
20mg
24h
25
p.V177M
|
529
p.R408W
|
1222
MHPA
Yes
20mg
8h
181
p.E178G
|
533
p.V230I
|
688
MHPA
Yes
20mg
8h
549
p.E178G
|
533
p.R261Q
|
782
MHPA
Yes
20mg
24h
141
p.E178G
|
533
IVS10-11G>A
|
1066
MHPA
Yes
20mg
8h
546
p.E178G
|
533
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
78
p.W187X
|
561
p.A403V
|
1208
mild PKU
Yes
20mg
8h
313
p.G188D
|
563
IVS12+1G>A
|
1315
classic PKU
Yes
20mg
24h
166
p.V190A
|
569
p.I65T
|
194
mild PKU
Yes
10mg
24h
3
p.V190A
|
569
p.R243X
|
727
mild PKU
Yes
20mg
24h
456
p.L194P
|
581
p.R261X
|
781
mild PKU
No
20mg
24h
654
p.Y204X
|
590
p.Y204X
|
590
classic PKU
No
20mg
24h
363
p.L197fsdel22bp
|
590
p.L197_Y204XfsX1
|
590
classic PKU
No
20mg
8h
672
p.Y204X
|
590
p.Y204X
|
590
classic PKU
No
20mg
48h
604
p.Y204X
|
590
p.Y387H
|
1159
classic PKU
Slow
20mg
24h
70
p.P211T
|
631
p.P211T
|
631
MHPA
Yes
20mg
24h
557
p.P211T
|
631
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
335
p.P211T
|
631
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
600
p.P211T
|
631
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
613
p.P211T
|
631
IVS10-11G>A
|
1066
MHPA
Slow
20mg
24h
540
p.P211T
|
631
p.R408W
|
1222
MHPA
Yes
20mg
24h
545
p.E221G
|
662
p.E221G
|
662
MHPA
Yes
20mg
24h
257
p.D222Efs
|
663
IVS10-3C>T
|
1066
mild PKU
Slow
20mg
24h
415
p.D222G
|
665
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
585
p.I224T
|
671
p.R408Q
|
1223
MHPA
Yes
20mg
Other
701
p.P225T
|
673
p.P225T
|
673
classic PKU
No
20mg
24h
724
p.V230I
|
688
IVS10-11G>A
|
1066
MHPA
Yes
20mg
8h
725
p.V230I
|
688
p.E390G
|
1169
MHPA
Yes
20mg
8h
220
p.V230I
|
688
p.A403V
|
1208
MHPA
Yes
20mg
8h
589
IVS6-2A>G
|
707
p.R408Q
|
1223
mild PKU
Yes
20mg
24h
504
p.G239V
|
716
p.R261Q
|
782
mild PKU
No
20mg
Other
87
p.R241C
|
721
p.R111X
|
331
mild PKU
Yes
10mg
24h
90
p.R241C
|
721
p.R241C
|
721
mild PKU
Yes
10mg
24h
83
p.R241C
|
721
p.R241C
|
721
MHPA
Yes
10mg
24h
133
p.R241C
|
721
p.R241C
|
721
MHPA
Yes
10mg
8h
572
p.R241C
|
721
p.R241C
|
721
MHPA
Yes
20mg
24h
162
p.R241C
|
721
p.R243Q
|
728
mild PKU
Yes
20mg
24h
165
p.R241C
|
721
p.R243Q
|
728
mild PKU
Yes
20mg
Other
164
p.R241C
|
721
p.A259T
|
775
mild PKU
Yes
20mg
Other
163
p.R241C
|
721
p.A259T
|
775
mild PKU
Yes
20mg
Other
80
p.R241C
|
721
p.T278I
|
833
MHPA
Yes
10mg
24h
84
p.R241C
|
721
p.P281A
|
841
mild PKU
Yes
10mg
24h
2
p.R241C
|
721
p.A403V
|
1208
MHPA
Yes
20mg
8h
575
p.R241C
|
721
p.R408W
|
1222
mild PKU
Yes
20mg
Other
86
p.R241C
|
721
p.R413P
|
1238
mild PKU
Yes
10mg
24h
647
p.R241C
|
721
p.L430P
|
1289
MHPA
No
20mg
24h
567
p.R241H
|
722
p.Y204X
|
590
mild PKU
Yes
20mg
24h
614
p.R241H
|
722
p.R408W
|
1222
MHPA
Slow
20mg
24h
64
p.R241H
|
722
IVS12+1G>A
|
1315
mild PKU
Yes
20mg
24h
306
p.R241H
|
722
IVS12+1G>A
|
1315
mild PKU
Yes
20mg
24h
13
p.R243X
|
727
p.R261Q
|
782
mild PKU
Yes
10mg
8h
357
p.R243X
|
727
p.R261Q
|
782
mild PKU
Slow
20mg
8h
443
p.R243X
|
727
p.R261Q
|
782
classic PKU
Yes
20mg
24h
426
p.R243X
|
727
IVS7+1G>A
|
842
classic PKU
No
20mg
8h
351
p.R243X
|
727
p.S349P
|
1045
classic PKU
Slow
20mg
8h
349
p.R243X
|
727
p.G352Gfs
|
1056
classic PKU
Slow
20mg
8h
391
p.R243X
|
727
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
382
p.R243X
|
727
p.V388M
|
1162
classic PKU
No
20mg
8h
499
p.R243X
|
727
p.R408W
|
1222
classic PKU
No
20mg
24h
423
p.R243X
|
727
p.Y414C
|
1241
classic PKU
No
20mg
8h
77
p.R243X
|
727
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
362
p.R243Q
|
728
IVS4+5G>T
|
441
classic PKU
No
20mg
8h
348
p.R243Q
|
728
p.R261X
|
781
classic PKU
No
20mg
Other
386
p.R243Q
|
728
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
594
p.R243Q
|
728
IVS10-11G>A
|
1066
classic PKU
Yes
20mg
24h
138
p.R243Q
|
728
IVS10-11G>A
|
1066
classic PKU
Yes
20mg
8h
290
p.R243Q
|
728
p.E390G
|
1169
MHPA
Yes
20mg
24h
291
p.R243Q
|
728
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
66
p.R243Q
|
728
p.D415N
|
1243
MHPA
Yes
20mg
8h
376
p.P244L
|
731
p.R261Q
|
782
mild PKU
No
20mg
8h
219
p.V245A
|
734
p.S16>XfsX1
|
47
MHPA
Yes
20mg
8h
178
p.V245A
|
734
p.F55>Lfs
|
165
MHPA
Yes
20mg
8h
238
p.V245A
|
734
p.R158Q
|
473
MHPA
Yes
20mg
8h
189
p.V245A
|
734
p.R261Q
|
782
MHPA
Yes
20mg
8h
221
p.V245A
|
734
p.R261Q
|
782
MHPA
Yes
20mg
8h
7
p.V245A
|
734
p.R261Q
|
782
MHPA
Yes
20mg
8h
196
p.V245A
|
734
p.R261Q
|
782
MHPA
Yes
20mg
8h
6
p.V245A
|
734
p.G272X
|
814
MHPA
Yes
20mg
8h
232
p.V245A
|
734
p.P281L
|
842
MHPA
Yes
20mg
8h
311
p.V245A
|
734
p.L311P
|
932
MHPA
Yes
20mg
8h
194
p.V245A
|
734
IVS9+2insT
|
969
MHPA
Yes
20mg
8h
252
p.V245A
|
734
p.V388M
|
1162
MHPA
Yes
20mg
24h
234
p.V245A
|
734
p.A403V
|
1208
MHPA
Yes
20mg
8h
242
p.V245A
|
734
p.A403V
|
1208
MHPA
Yes
20mg
8h
213
p.V245A
|
734
p.A403V
|
1208
MHPA
Yes
20mg
8h
208
p.V245A
|
734
p.A403V
|
1208
MHPA
Yes
20mg
8h
30
p.V245A
|
734
p.R408W
|
1222
MHPA
Yes
20mg
8h
27
p.V245A
|
734
p.R408W
|
1222
MHPA
Yes
20mg
8h
217
p.V245A
|
734
p.Y414C
|
1241
MHPA
Yes
20mg
8h
439
p.V245A
|
p.Y277C
734
IVS12+1G>A
|
1315
classic PKU
No
20mg
24h
537
p.L249F
|
745
p.V388M
|
1162
mild PKU
No
20mg
24h
488
p.L249P
|
746
p.L249P
|
746
classic PKU
No
20mg
24h
489
p.L249P
|
746
p.L249P
|
746
classic PKU
No
20mg
24h
481
p.L249P
|
746
p.P281L
|
842
classic PKU
No
20mg
24h
516
p.L249P
|
746
p.E390G
|
1169
MHPA
Yes
20mg
24h
471
p.L249P
|
746
p.R408W
|
1222
classic PKU
No
20mg
24h
451
p.R252W
|
754
p.R252W
|
754
classic PKU
No
20mg
24h
645
p.R252W
|
754
p.R252W
|
754
MHPA
No
20mg
24h
301
p.R252W
|
754
p.Y414C
|
1241
mild PKU
Yes
20mg
24h
154
p.R261X
|
781
p.I65T
|
194
classic PKU
Yes
20mg
8h
146
p.R261X
|
781
p.R241H
|
722
MHPA
Yes
20mg
8h
408
p.R261X
|
781
p.R261Q
|
782
classic PKU
No
20mg
24h
409
p.R261X
|
781
p.R261Q
|
782
classic PKU
No
20mg
24h
33
p.R261X
|
781
p.A300S
|
898
mild PKU
Yes
20mg
8h
31
p.R261X
|
781
p.A300S
|
898
mild PKU
Yes
20mg
8h
39
p.R261X
|
781
p.A300S
|
898
mild PKU
Yes
20mg
8h
458
p.R261X
|
781
p.D338Y
|
1012
mild PKU
No
20mg
24h
264
p.R261X
|
781
IVS10+1G>A
|
1065
classic PKU
Yes
20mg
24h
484
p.R261X
|
781
p.K363Nfs
|
1089
classic PKU
No
20mg
24h
198
p.R261X
|
781
p.A403V
|
1208
MHPA
Yes
20mg
8h
273
p.R261Q
|
782
p.L48S
|
143
mild PKU
Yes
20mg
24h
309
p.R261Q
|
782
p.L48S
|
143
mild PKU
Yes
20mg
8h
150
p.R261Q
|
782
IVS2+5G>C
|
168
mild PKU
Yes
20mg
8h
157
p.R261Q
|
782
IVS2+5G>C
|
168
mild PKU
Yes
20mg
8h
50
p.R261Q
|
782
p.I65T
|
194
MHPA
Yes
10mg
8h
14
p.R261Q
|
782
p.R158Q
|
473
classic PKU
Yes
10mg
8h
269
p.R261Q
|
782
p.R158Q
|
473
mild PKU
Yes
20mg
24h
214
p.R261Q
|
782
p.V245A
|
734
MHPA
Yes
20mg
8h
434
p.R261Q
|
782
p.R261X
|
781
classic PKU
No
20mg
24h
199
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
8h
113
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
460
p.R261Q
|
782
p.R261Q
|
782
mild PKU
No
20mg
24h
608
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Slow
20mg
24h
465
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
48h
615
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Slow
20mg
24h
461
p.R261Q
|
782
p.R261Q
|
782
mild PKU
No
20mg
24h
651
p.R261Q
|
782
p.R261Q
|
782
mild PKU
No
20mg
24h
597
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
459
p.R261Q
|
782
p.R261Q
|
782
mild PKU
No
20mg
24h
677
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
275
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
251
p.R261Q
|
782
p.R261Q
|
782
classic PKU
Yes
20mg
24h
254
p.R261Q
|
782
p.R261Q
|
782
classic PKU
Yes
20mg
24h
582
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
565
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
267
p.R261Q
|
782
p.R261Q
|
782
classic PKU
Yes
20mg
24h
735
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
8h
621
p.R261Q
|
782
p.R261Q
|
782
MHPA
No
20mg
24h
571
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
660
p.R261Q
|
782
p.R261Q
|
782
mild PKU
No
20mg
24h
551
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
732
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
8h
564
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
574
p.R261Q
|
782
p.R261Q
|
782
mild PKU
Yes
20mg
24h
229
p.R261Q
|
782
p.M276V
|
826
mild PKU
Yes
20mg
8h
261
p.R261Q
|
782
p.M276V
|
826
mild PKU
Yes
20mg
24h
383
p.R261Q
|
782
p.E280K
|
838
classic PKU
No
20mg
8h
316
p.R261Q
|
782
IVS7+1G>A
|
842
classic PKU
Yes
10mg
24h
317
p.R261Q
|
782
IVS7+1G>A
|
842
classic PKU
Yes
20mg
24h
215
p.R261Q
|
782
p.A300S
|
898
MHPA
Yes
20mg
8h
559
p.R261Q
|
782
p.A300S
|
898
MHPA
Yes
20mg
24h
455
p.R261Q
|
782
IVS8-7A>G
|
913
mild PKU
No
20mg
24h
103
p.R261Q
|
782
p.L308F
|
922
classic PKU
Yes
10mg
24h
324
p.R261Q
|
782
p.S349P
|
1045
classic PKU
Yes
20mg
24h
403
p.R261Q
|
782
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
377
p.R261Q
|
782
IVS10-11G>A
|
1066
mild PKU
Slow
20mg
8h
583
p.R261Q
|
782
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
390
p.R261Q
|
782
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
457
p.R261Q
|
782
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
646
p.R261Q
|
782
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
446
p.R261Q
|
782
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
462
p.R261Q
|
782
IVS10-11G>A
|
1066
mild PKU
No
20mg
8h
384
p.R261Q
|
782
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
431
p.R261Q
|
782
p.Y356X
|
1068
classic PKU
No
20mg
48h
478
p.R261Q
|
782
p.K363Nfs
|
1089
classic PKU
No
20mg
24h
477
p.R261Q
|
782
p.K363Nfs
|
1089
classic PKU
No
20mg
24h
182
p.R261Q
|
782
p.Y386C
|
1157
classic PKU
Yes
20mg
8h
15
p.R261Q
|
782
p.V388M
|
1162
classic PKU
Yes
10mg
8h
730
p.R261Q
|
782
p.E390G
|
1169
MHPA
Yes
20mg
8h
292
p.R261Q
|
782
p.E390G
|
1169
mild PKU
Yes
20mg
8h
680
p.R261Q
|
782
p.E390G
|
1169
MHPA
Yes
20mg
24h
543
p.R261Q
|
782
p.E390G
|
1169
MHPA
Yes
20mg
24h
538
p.R261Q
|
782
p.E390G
|
1169
MHPA
Yes
20mg
24h
268
p.R261Q
|
782
p.R408W
|
1222
classic PKU
No
20mg
Other
425
p.R261Q
|
782
p.R408W
|
1222
classic PKU
No
20mg
8h
480
p.R261Q
|
782
p.R408W
|
1222
classic PKU
No
20mg
24h
476
p.R261Q
|
782
p.R408W
|
1222
classic PKU
No
20mg
24h
454
p.R261Q
|
782
p.R408Q
|
1223
mild PKU
No
20mg
24h
36
p.R261Q
|
782
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
24
p.R261Q
|
782
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
93
p.R270K
|
809
p.I94del
|
283
classic PKU
Yes
10mg
24h
239
p.G272X
|
814
p.P211T
|
631
mild PKU
Yes
20mg
8h
328
p.G272X
|
814
p.E390G
|
1169
mild PKU
Yes
20mg
24h
37
p.K274_Y277Nfs
|
822
p.E390G
|
1169
mild PKU
Yes
20mg
8h
130
p.P275R
|
824
p.L348V
|
1042
mild PKU
Yes
20mg
24h
26
p.P275L
|
824
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
209
p.M276V
|
826
p.A300S
|
898
MHPA
Yes
20mg
8h
307
p.M276V
|
826
p.R408W
|
1222
mild PKU
Yes
20mg
8h
398
p.T278N
|
833
p.P281L
|
842
classic PKU
No
20mg
24h
590
p.P279C
|
836
p.R408W
|
1222
mild PKU
Yes
20mg
24h
111
p.E280K
|
838
p.I269L
|
805
MHPA
Yes
10mg
24h
380
p.E280K
|
838
p.V388M
|
1162
classic PKU
Slow
20mg
8h
387
p.E280K
|
838
p.V388M
|
1162
classic PKU
No
20mg
8h
10
p.E280K
|
838
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
606
p.E280A
|
839
p.E280A
|
839
classic PKU
Slow
20mg
24h
366
p.P281S
|
841
p.P281S
|
841
classic PKU
No
20mg
8h
374
p.P281L
|
842
IVS4-1G>A
|
442
mild PKU
No
20mg
Other
435
p.P281L
|
842
p.R158Q
|
473
classic PKU
No
20mg
24h
216
p.P281L
|
842
p.V245A
|
734
MHPA
Yes
20mg
8h
225
IVS7+1G>A
|
842
p.V245A
|
734
MHPA
Yes
20mg
8h
193
p.P281L
|
842
p.V245A
|
734
MHPA
Yes
20mg
8h
681
p.P281L
|
842
p.P281L
|
p.N438D
842
classic PKU
No
20mg
24h
673
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
671
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
422
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
8h
709
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
452
p.P281L
|
842
IVS7+1G>A
|
842
classic PKU
No
20mg
24h
707
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
450
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
712
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
642
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
695
p.P281L
|
842
p.P281L
|
842
mild PKU
No
20mg
24h
438
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
437
IVS7+1G>A
|
842
IVS7+1G>A
|
842
classic PKU
No
20mg
24h
722
p.P281L
|
842
p.P281L
|
842
mild PKU
No
20mg
24h
429
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
48h
637
p.P281L
|
842
p.P281L
|
842
classic PKU
No
20mg
24h
412
p.P281L
|
842
p.L287V
|
859
classic PKU
No
20mg
24h
114
p.P281L
|
842
p.R297H
|
890
MHPA
No
20mg
8h
555
IVS7+4A>G
|
842
p.A300S
|
898
MHPA
Yes
20mg
24h
272
p.P281L
|
842
p.D338Y
|
1012
mild PKU
Yes
20mg
24h
405
p.P281L
|
842
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
578
p.P281L
|
842
IVS10-11G>A
|
1066
classic PKU
Yes
20mg
24h
404
p.P281L
|
842
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
192
p.P281L
|
842
p.T380M
|
1139
MHPA
Yes
20mg
8h
498
p.P281L
|
842
p.E390G
|
1169
MHPA
Yes
20mg
24h
485
p.P281L
|
842
p.E390G
|
1169
mild PKU
Yes
20mg
24h
283
p.P281L
|
842
p.A403V
|
1208
classic PKU
Yes
20mg
24h
580
p.P281L
|
842
p.A403V
|
1208
MHPA
Yes
20mg
24h
298
p.P281L
|
842
p.A403V
|
1208
mild PKU
Yes
20mg
24h
16
p.P281L
|
842
p.A403V
|
1208
mild PKU
Yes
20mg
24h
665
p.P281L
|
842
p.R408W
|
1222
classic PKU
No
20mg
24h
101
IVS7+5G>A
|
842
p.Y414C
|
1241
classic PKU
Yes
10mg
24h
247
p.P281L
|
842
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
417
p.P281L
|
842
p.Y414C
|
1241
mild PKU
No
20mg
8h
206
p.P281L
|
842
p.Y414C
|
1241
mild PKU
Yes
20mg
8h
556
p.P281L
|
842
p.D415N
|
1243
MHPA
Yes
20mg
24h
168
p.A309V
|
898
IVS1+5G>T
|
60
classic PKU
Slow
20mg
24h
176
p.A309V
|
898
IVS1+5G>T
|
60
classic PKU
Yes
20mg
8h
468
p.A300S
|
898
IVS2+5G>C
|
168
mild PKU
Yes
20mg
Other
210
p.A300S
|
898
p.I65T
|
194
MHPA
Yes
20mg
8h
123
p.A300S
|
898
p.R261Q
|
782
MHPA
Yes
20mg
8h
207
p.A300S
|
898
p.L287V
|
859
MHPA
Yes
20mg
8h
577
p.A300S
|
p.R155R\H
898
p.A300S
|
898
MHPA
Yes
20mg
24h
539
p.A300S
|
898
p.A300S
|
898
MHPA
Yes
20mg
24h
691
p.A300S
|
898
p.A300S
|
p.R155H
898
mild PKU
No
20mg
24h
610
p.A300S
|
p.R155H
898
p.A300S
|
898
MHPA
Slow
20mg
24h
322
p.A300S
|
898
p.S349P
|
1045
MHPA
Yes
20mg
24h
259
p.A300S
|
898
IVS10+1G>A
|
1065
MHPA
Yes
20mg
24h
586
p.A300S
|
898
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
303
p.A300S
|
898
IVS10-11G>A
|
1066
mild PKU
Yes
20mg
8h
573
p.A300S
|
898
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
548
p.A300S
|
898
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
541
p.A300S
|
898
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
731
p.A300S
|
898
IVS10-11G>A
|
1066
MHPA
Yes
20mg
8h
560
p.A300S
|
898
IVS10-11A>G
|
1066
MHPA
Yes
20mg
24h
304
p.A300S
|
898
IVS10-11G>A
|
1066
mild PKU
Yes
20mg
8h
562
p.A300S
|
898
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
1
p.A300S
|
898
p.A403V
|
1208
MHPA
Yes
20mg
8h
5
p.A300S
|
898
p.A403V
|
1208
MHPA
Yes
20mg
8h
241
p.A300S
|
898
p.A403V
|
1208
MHPA
Yes
20mg
8h
581
p.A300S
|
898
p.A403V
|
1208
MHPA
Yes
20mg
24h
112
p.A300S
|
898
p.R408W
|
1222
MHPA
Yes
10mg
24h
72
p.A309V
|
898
p.R408W
|
1222
classic PKU
Yes
20mg
24h
277
p.A300S
|
898
p.R408W
|
1222
MHPA
Yes
20mg
24h
246
p.A300S
|
898
IVS12+1G>A
|
1315
mild PKU
Yes
20mg
8h
266
p.S303A
|
907
p.G46S
|
136
MHPA
Yes
20mg
24h
338
p.Q304Q
|
912
p.R176L
|
527
mild PKU
Yes
20mg
24h
370
IVS8-7A>G
|
913
IVS8+1G>A
|
912
classic PKU
No
20mg
8h
521
p.I306V
|
916
p.R111X
|
331
mild PKU
Yes
20mg
24h
495
p.I306V
|
916
p.R261X
|
781
mild PKU
Slow
20mg
48h
532
p.I306V
|
916
p.K274_Y277Nfs
|
822
MHPA
Yes
20mg
8h
520
p.I306V
|
916
p.R408W
|
1222
MHPA
Yes
20mg
24h
96
p.L311P
|
932
p.R408Q
|
1223
mild PKU
No
20mg
Other
4
p.A313T
|
937
p.L367Pfs
|
1099
mild PKU
Yes
20mg
24h
19
p.P314S
|
940
p.R408W
|
1222
MHPA
Yes
20mg
8h
73
p.K320N
|
960
p.R408W
|
1222
mild PKU
Yes
20mg
24h
694
IVS9-1G>T
|
970
IVS9-1G>T
|
970
classic PKU
No
20mg
24h
558
p.D338Y
|
1012
p.D338Y
|
1012
MHPA
Yes
20mg
24h
137
p.L348V
|
1042
IVS1+5G>T
|
60
mild PKU
No
20mg
8h
514
p.L348V
|
1042
p.L348V
|
1042
mild PKU
Yes
20mg
24h
148
p.S349P
|
1045
p.P147S
|
439
classic PKU
Yes
20mg
8h
350
p.S349P
|
1045
p.R261Q
|
782
classic PKU
Slow
20mg
8h
367
p.S349P
|
1045
p.G352Gfs
|
1056
classic PKU
No
20mg
8h
359
p.S349P
|
1045
p.V388M
|
1162
classic PKU
No
20mg
Other
320
p.S349P
|
1045
p.V388M
|
1162
classic PKU
Yes
20mg
24h
142
p.S349P
|
1045
p.E390G
|
1169
MHPA
Yes
20mg
8h
453
p.G352C
|
1054
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
674
IVS10-11G>A
|
1066
p.R158Q
|
473
classic PKU
Yes
20mg
24h
433
IVS10-11G>A
|
1066
p.R176X
|
526
classic PKU
No
20mg
24h
110
IVS10-11G>A
|
1066
p.E178G
|
533
mild PKU
Yes
10mg
24h
200
IVS10-11G>A
|
1066
p.P211T
|
631
MHPA
Yes
20mg
8h
218
IVS10-11G>A
|
1066
p.V230I
|
688
MHPA
Yes
20mg
8h
186
IVS10del546
|
1066
p.V245A
|
734
MHPA
Yes
20mg
8h
185
IVS10-11G>A
|
1066
p.V245A
|
734
MHPA
Yes
20mg
24h
187
IVS10-11G>A
|
1066
p.A300S
|
898
MHPA
Yes
20mg
8h
699
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
698
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
612
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
Slow
20mg
24h
342
IVS10-3C>T
|
1066
IVS10-3C>T
|
1066
MHPA
Slow
20mg
8h
696
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
639
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
664
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
640
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
693
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
703
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
706
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
708
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
710
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
587
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
Yes
20mg
24h
365
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
716
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
719
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
436
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
369
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
663
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
596
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
Yes
20mg
24h
601
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
Slow
20mg
24h
617
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
Slow
20mg
24h
683
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
48h
684
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
655
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
169
IVS10-3C>T
|
1066
IVS10-3C>T
|
1066
MHPA
Yes
20mg
8h
653
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
661
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
649
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
648
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
650
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
620
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
388
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
379
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
8h
432
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
690
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
classic PKU
No
20mg
24h
616
IVS10-11G>A
|
1066
IVS10-11G>A
|
1066
mild PKU
Slow
20mg
24h
682
IVS10-11G>A
|
1066
p.K363Nfs
|
1089
classic PKU
No
20mg
24h
644
IVS10-11G>A
|
1066
p.L367Pfs
|
1100
classic PKU
No
20mg
24h
542
IVS10-11G>A
|
1066
p.T372S
|
1114
MHPA
Yes
20mg
24h
48
IVS10-11G>A
|
1066
p.E390G
|
1169
mild PKU
Yes
20mg
24h
667
IVS10-7 C>A
|
1066
IVS11-2A>G
|
1200
classic PKU
No
20mg
24h
406
IVS10-11G>A
|
1066
IVS11-8G>A
|
1200
classic PKU
No
20mg
48h
407
IVS10-11G>A
|
1066
IVS11-8G>A
|
1200
classic PKU
No
20mg
24h
287
IVS10-11G>A
|
1066
p.A403V
|
1208
mild PKU
Yes
20mg
24h
235
IVS10-11G>A
|
1066
p.A403V
|
1208
MHPA
Yes
20mg
8h
233
IVS10-11G>A
|
1066
p.A403V
|
1208
MHPA
Yes
20mg
8h
588
IVS10-3C>T
|
1066
p.A403V
|
1208
MHPA
Yes
20mg
24h
688
IVS10-11G>A
|
1066
p.R408W
|
1222
mild PKU
No
20mg
24h
75
IVS10-11G>A
|
1066
p.R408W
|
1222
classic PKU
Yes
20mg
8h
240
IVS10-11G>A
|
1066
p.D415N
|
1243
MHPA
Yes
20mg
8h
134
IVS10-11G>A
|
1066
p.D415N
|
1243
MHPA
Yes
20mg
8h
160
p.Y356X
|
1068
p.R408Q
|
1223
mild PKU
Yes
20mg
24h
145
p.P362T
|
1084
IVS2+5G>C
|
168
mild PKU
Yes
20mg
8h
713
p.K363Nfs
|
1089
IVS10-11G>A
|
1066
mild PKU
No
20mg
24h
598
p.K363Nfs
|
1089
p.K363Nfs
|
1089
classic PKU
Slow
20mg
24h
554
p.T372S
|
1114
p.R408W
|
1222
MHPA
Yes
20mg
24h
733
p.D394H
|
1130
p.D394H
|
1130
MHPA
Yes
20mg
8h
183
p.T380M
|
1139
p.R158Q
|
473
MHPA
Yes
20mg
8h
237
p.T380M
|
1139
p.V388M
|
1162
MHPA
Yes
20mg
8h
736
p.Y387H
|
1159
p.Y387H
|
1159
classic PKU
Yes
20mg
8h
174
p.V388M
|
1162
p.F39L
|
117
mild PKU
Yes
20mg
8h
337
p.V388M
|
1162
p.L48S
|
143
mild PKU
Yes
20mg
Other
372
|
1162
p.N61/N62/T63fsdelX
|
181
classic PKU
No
20mg
8h
140
p.V388M
|
1162
p.R241H
|
722
mild PKU
Yes
20mg
8h
341
p.V388M
|
1162
p.R243Q
|
728
classic PKU
Yes
20mg
24h
152
p.V388M
|
1162
p.L348V
|
1042
classic PKU
Yes
20mg
8h
156
p.V388M
|
1162
IVS10-11G>A
|
1066
mild PKU
No
20mg
Other
147
p.V388M
|
1162
p.P362T
|
1084
mild PKU
Yes
20mg
8h
143
p.V388M
|
1162
p.P362T
|
1084
mild PKU
Yes
20mg
8h
602
p.V388M
|
1162
p.V388M
|
1162
mild PKU
Slow
20mg
24h
595
p.V388M
|
1162
p.V388M
|
1162
mild PKU
Yes
20mg
24h
321
p.V388M
|
1162
p.E390G
|
1169
MHPA
Yes
20mg
24h
339
p.V388M
|
1162
p.Y414C
|
1241
mild PKU
Yes
20mg
24h
505
p.E390G
|
1169
delExon3
|
MHPA
Yes
20mg
24h
329
p.E390G
|
1169
p.L348V
|
1042
MHPA
Yes
20mg
24h
579
p.E390G
|
1169
IVS10-11G>A
|
1066
MHPA
Yes
20mg
24h
79
p.E390G
|
1169
p.E390G
|
1169
mild PKU
Yes
20mg
8h
469
p.E390G
|
1169
p.E390G
|
1169
mild PKU
Yes
Other
Other
727
p.E390G
|
1169
p.E390G
|
1169
MHPA
Yes
20mg
8h
119
p.E390G
|
1169
p.E390G
|
1169
MHPA
Yes
20mg
24h
256
p.E390G
|
1169
p.A395P
|
1183
classic PKU
Yes
20mg
24h
260
p.E390G
|
1169
p.A403V
|
1208
MHPA
Yes
20mg
24h
236
p.E390G
|
1169
p.A403V
|
1208
MHPA
Yes
20mg
8h
483
p.E390G
|
1169
p.R408W
|
1222
mild PKU
Yes
20mg
24h
482
p.E390G
|
1169
p.R408W
|
1222
mild PKU
Yes
20mg
24h
518
p.E390G
|
1169
p.R408W
|
1222
mild PKU
Yes
20mg
24h
522
p.E390G
|
1169
p.R408W
|
1222
mild PKU
Yes
20mg
24h
479
p.E390G
|
1169
p.R408W
|
1222
MHPA
Yes
20mg
24h
135
p.E390G
|
1169
p.R408W
|
1222
MHPA
Yes
20mg
8h
474
p.E390G
|
1169
p.R408W
|
1222
mild PKU
Yes
20mg
24h
547
p.E390G
|
1169
p.R408W
|
1222
MHPA
Yes
20mg
24h
243
p.E390G
|
1169
p.R408W
|
1222
mild PKU
Yes
20mg
8h
544
p.E390G
|
1169
p.A434D
|
1301
MHPA
Yes
20mg
24h