NM_000277.3(PAH):c.1155C>G (p.Leu385=)
|
rs772897
|
0.84953
|
NM_000277.3(PAH):c.696G>A (p.Gln232=)
|
rs1126758
|
0.64991
|
NM_000277.3(PAH):c.441+47C>T
|
rs1718301
|
0.37849
|
NM_000277.3(PAH):c.696= (p.Gln232=)
|
rs1126758
|
0.35009
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_000277.3(PAH):c.1155= (p.Leu385=)
|
rs772897
|
0.15047
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000277.3(PAH):c.963C>T (p.Leu321=)
|
rs61747292
|
0.01582
|
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)
|
rs1801152
|
0.00779
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
NM_000277.3(PAH):c.1315+20C>T
|
rs190655222
|
0.00250
|
NM_000277.3(PAH):c.441+20G>A
|
rs111842675
|
0.00229
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000277.3(PAH):c.706+17G>T
|
rs62508592
|
0.00087
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_000277.3(PAH):c.969+20G>A
|
rs201083544
|
0.00035
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000277.3(PAH):c.969+7C>T
|
rs80324017
|
0.00032
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
NM_000277.3(PAH):c.681G>A (p.Leu227=)
|
rs182135145
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000277.3(PAH):c.837C>T (p.Pro279=)
|
rs138355741
|
0.00008
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
NM_000277.3(PAH):c.352+11G>C
|
rs371926082
|
0.00006
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
NM_000277.3(PAH):c.804C>T (p.Tyr268=)
|
rs748337823
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
NM_000277.3(PAH):c.1002C>T (p.Cys334=)
|
rs140243918
|
0.00004
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe)
|
rs951540129
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
NM_000277.3(PAH):c.441+7C>A
|
rs775999845
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
NM_000277.3(PAH):c.588C>T (p.Ser196=)
|
rs755420480
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.925G>T (p.Ala309Ser)
|
rs1205657950
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
NM_000277.3(PAH):c.125A>G (p.Lys42Arg)
|
rs62635346
|
0.00003
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)
|
rs539994406
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.886G>A (p.Asp296Asn)
|
rs765934604
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.894C>T (p.Ser298=)
|
rs765823928
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.1066-4A>G
|
rs757320744
|
0.00002
|
NM_000277.3(PAH):c.1098C>A (p.Pro366=)
|
rs776159017
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_000277.3(PAH):c.12G>A (p.Ala4=)
|
rs536605300
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000277.3(PAH):c.441+15C>T
|
rs187133779
|
0.00002
|
NM_000277.3(PAH):c.441+9A>G
|
rs756060157
|
0.00002
|
NM_000277.3(PAH):c.442-14C>T
|
rs775806999
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
NM_000277.3(PAH):c.642A>G (p.Glu214=)
|
rs373782868
|
0.00002
|
NM_000277.3(PAH):c.74T>C (p.Ile25Thr)
|
rs1355039694
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000277.3(PAH):c.861G>A (p.Leu287=)
|
rs754686336
|
0.00002
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.1026A>G (p.Ala342=)
|
rs766756246
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1041C>T (p.Leu347=)
|
rs1233192488
|
0.00001
|
NM_000277.3(PAH):c.1059A>G (p.Glu353=)
|
rs1403823473
|
0.00001
|
NM_000277.3(PAH):c.1066-5T>C
|
rs910131541
|
0.00001
|
NM_000277.3(PAH):c.1095C>G (p.Leu365=)
|
rs747661840
|
0.00001
|
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)
|
rs62516098
|
0.00001
|
NM_000277.3(PAH):c.1101G>A (p.Leu367=)
|
rs62508648
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
0.00001
|
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1185C>A (p.Ala395=)
|
rs760256025
|
0.00001
|
NM_000277.3(PAH):c.1188G>A (p.Lys396=)
|
rs772683682
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1216A>G (p.Ile406Val)
|
rs749613899
|
0.00001
|
NM_000277.3(PAH):c.1251C>T (p.Tyr417=)
|
rs1272159852
|
0.00001
|
NM_000277.3(PAH):c.1254C>T (p.Thr418=)
|
rs755787172
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.1270T>C (p.Leu424=)
|
rs148041893
|
0.00001
|
NM_000277.3(PAH):c.1299G>A (p.Leu433=)
|
rs770034263
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.135T>G (p.Val45=)
|
rs773425620
|
0.00001
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.169-9C>G
|
rs747810402
|
0.00001
|
NM_000277.3(PAH):c.176A>T (p.Asp59Val)
|
rs199475672
|
0.00001
|
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)
|
rs199475634
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
0.00001
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)
|
rs767453024
|
0.00001
|
NM_000277.3(PAH):c.231T>C (p.Tyr77=)
|
rs62507332
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)
|
rs62514903
|
0.00001
|
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)
|
rs62508677
|
0.00001
|
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)
|
rs752792040
|
0.00001
|
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)
|
rs398123291
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.352+10A>G
|
rs559561517
|
0.00001
|
NM_000277.3(PAH):c.353-9G>T
|
rs757191681
|
0.00001
|
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)
|
rs374999809
|
0.00001
|
NM_000277.3(PAH):c.36del (p.Arg13fs)
|
rs1878413079
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.424C>T (p.Leu142=)
|
rs375364629
|
0.00001
|
NM_000277.3(PAH):c.42A>G (p.Lys14=)
|
rs759956741
|
0.00001
|
NM_000277.3(PAH):c.435C>A (p.Asp145Glu)
|
rs1375045653
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+4A>G
|
rs62508586
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.450A>G (p.Lys150=)
|
rs749317892
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)
|
rs199475626
|
0.00001
|
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr)
|
rs1210056131
|
0.00001
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
NM_000277.3(PAH):c.509+18G>T
|
rs749428436
|
0.00001
|
NM_000277.3(PAH):c.509+9G>A
|
rs1392904247
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.513G>T (p.Gly171=)
|
rs143211522
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
0.00001
|
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)
|
rs199475671
|
0.00001
|
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)
|
rs199475617
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.569T>C (p.Val190Ala)
|
rs62514919
|
0.00001
|
NM_000277.3(PAH):c.60+10G>C
|
rs1878409841
|
0.00001
|
NM_000277.3(PAH):c.61-7C>T
|
rs1246404276
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.612T>C (p.Tyr204=)
|
rs62514928
|
0.00001
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
NM_000277.3(PAH):c.633A>C (p.Pro211=)
|
rs1347265181
|
0.00001
|
NM_000277.3(PAH):c.63A>C (p.Glu21Asp)
|
rs753466976
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)
|
rs199475589
|
0.00001
|
NM_000277.3(PAH):c.687C>T (p.Asp229=)
|
rs966010608
|
0.00001
|
NM_000277.3(PAH):c.693T>C (p.Ser231=)
|
rs1592954345
|
0.00001
|
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)
|
rs62507348
|
0.00001
|
NM_000277.3(PAH):c.702G>A (p.Leu234=)
|
rs993558609
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.716G>T (p.Gly239Val)
|
rs62507283
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.737del (p.Ala246fs)
|
rs199475666
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.771C>T (p.Gly257=)
|
rs544995045
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)
|
rs62642944
|
0.00001
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.825C>T (p.Pro275=)
|
rs1875223145
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)
|
rs1555204441
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.842+8C>T
|
rs747113268
|
0.00001
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)
|
rs62508693
|
0.00001
|
NM_000277.3(PAH):c.859C>A (p.Leu287Met)
|
rs781096854
|
0.00001
|
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)
|
rs199475693
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.936T>C (p.Gly312=)
|
rs776778122
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.969+12C>T
|
rs1874869257
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
NM_000277.3(PAH):c.970A>G (p.Ile324Val)
|
rs1221031352
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NC_000012.11:g.(?_103232953)_(103310908_?)dup
|
|
|
NC_000012.11:g.(?_103246573)_(103271348_?)del
|
|
|
NC_000012.11:g.(?_103248268)_(103249067_?)del
|
|
|
NC_000012.11:g.(?_103248776)_(103260427_?)del
|
|
|
NC_000012.11:g.(?_103248894)_(103249130_?)del
|
|
|
NC_000012.11:g.(?_103260354)_(103260461_?)dup
|
|
|
NC_000012.11:g.(?_103288493)_(103352733_?)dup
|
|
|
NC_000012.12:g.(?_102854491)_(102855289_?)del
|
|
|
NC_000012.12:g.(?_102855126)_(102855342_?)del
|
|
|
NC_000012.12:g.(?_102866576)_(102866683_?)del
|
|
|
NC_000012.12:g.(?_102866586)_(102866673_?)del
|
|
|
NC_000012.12:g.(?_102894725)_(102894931_?)del
|
|
|
NC_000012.12:g.(?_102917061)_(102917140_?)del
|
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer)
|
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
NM_000277.3(PAH):c.1013A>T (p.Asp338Val)
|
|
|
NM_000277.3(PAH):c.1017C>T (p.Ser339=)
|
|
|
NM_000277.3(PAH):c.1023G>A (p.Lys341=)
|
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro)
|
rs62507282
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1026A>C (p.Ala342=)
|
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1029T>C (p.Tyr343=)
|
|
|
NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter)
|
rs1874735553
|
|
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)
|
rs62508679
|
|
NM_000277.3(PAH):c.1032T>C (p.Gly344=)
|
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu)
|
rs1555203737
|
|
NM_000277.3(PAH):c.1038del (p.Leu347fs)
|
rs62516063
|
|
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)
|
rs62507279
|
|
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
|
|
|
NM_000277.3(PAH):c.1050C>A (p.Ser350=)
|
|
|
NM_000277.3(PAH):c.1050C>G (p.Ser350=)
|
rs2136636815
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1062A>G (p.Leu354=)
|
rs2136636752
|
|
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)
|
rs199475633
|
|
NM_000277.3(PAH):c.1065+15G>A
|
|
|
NM_000277.3(PAH):c.1065+16G>A
|
|
|
NM_000277.3(PAH):c.1065+1G>A
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+20C>A
|
|
|
NM_000277.3(PAH):c.1065+20C>G
|
rs370258593
|
|
NM_000277.3(PAH):c.1065+20C>T
|
rs370258593
|
|
NM_000277.3(PAH):c.1065+7C>T
|
|
|
NM_000277.3(PAH):c.1065+8C>A
|
|
|
NM_000277.3(PAH):c.1065+8C>T
|
rs2136636719
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
NM_000277.3(PAH):c.1066-10_1070del
|
rs1592947582
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1066-14C>T
|
|
|
NM_000277.3(PAH):c.1066-16C>T
|
|
|
NM_000277.3(PAH):c.1066-19T>G
|
|
|
NM_000277.3(PAH):c.1066-1G>A
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-1G>T
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-31G>A
|
rs199475685
|
|
NM_000277.3(PAH):c.1066-5T>G
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
NM_000277.3(PAH):c.1066-8G>C
|
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)
|
rs62508595
|
|
NM_000277.3(PAH):c.1071C>T (p.Cys357=)
|
rs766107583
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)
|
rs5030854
|
|
NM_000277.3(PAH):c.1080G>A (p.Glu360=)
|
|
|
NM_000277.3(PAH):c.1083G>A (p.Lys361=)
|
rs1874700949
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)
|
|
|
NM_000277.3(PAH):c.1089G>A (p.Lys363=)
|
rs63329263
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1092T>G (p.Leu364=)
|
rs1174053337
|
|
NM_000277.3(PAH):c.1095C>A (p.Leu365=)
|
|
|
NM_000277.3(PAH):c.1095C>T (p.Leu365=)
|
rs747661840
|
|
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser)
|
rs2136635839
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1098C>G (p.Pro366=)
|
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.1111_1117del (p.Lys371fs)
|
|
|
NM_000277.3(PAH):c.1113G>A (p.Lys371=)
|
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1115_1116dup (p.Ala373fs)
|
|
|
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
|
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)
|
rs62642942
|
|
NM_000277.3(PAH):c.1134T>C (p.Thr378=)
|
rs1874693005
|
|
NM_000277.3(PAH):c.1134T>G (p.Thr378=)
|
rs1874693005
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1143G>A (p.Glu381=)
|
rs2136635626
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1149del (p.Gln383fs)
|
rs1874691210
|
|
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)
|
rs1555203677
|
|
NM_000277.3(PAH):c.1152C>A (p.Pro384=)
|
|
|
NM_000277.3(PAH):c.1152C>G (p.Pro384=)
|
rs281865458
|
|
NM_000277.3(PAH):c.1153del (p.Leu385fs)
|
rs1565842203
|
|
NM_000277.3(PAH):c.1155C>A (p.Leu385=)
|
rs772897
|
|
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His)
|
rs2136635586
|
|
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)
|
rs199475691
|
|
NM_000277.3(PAH):c.1158T>C (p.Tyr386=)
|
rs2136635574
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter)
|
rs149595475
|
|
NM_000277.3(PAH):c.1164G>C (p.Val388=)
|
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1167A>G (p.Ala389=)
|
rs2136635539
|
|
NM_000277.3(PAH):c.1170G>A (p.Glu390=)
|
rs2136635531
|
|
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)
|
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1192A>T (p.Lys398Ter)
|
rs2136635468
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1198A>C (p.Arg400=)
|
rs199475593
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
NM_000277.3(PAH):c.1199+18G>A
|
|
|
NM_000277.3(PAH):c.1199+19T>C
|
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+20G>C
|
rs62509018
|
|
NM_000277.3(PAH):c.1199+4A>G
|
rs1471682834
|
|
NM_000277.3(PAH):c.1199+88C>T
|
|
|
NM_000277.3(PAH):c.1199+9G>C
|
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
NM_000277.3(PAH):c.1200-16G>A
|
|
|
NM_000277.3(PAH):c.1200-17T>G
|
|
|
NM_000277.3(PAH):c.1200-19C>A
|
|
|
NM_000277.3(PAH):c.1200-2A>G
|
rs1592945607
|
|
NM_000277.3(PAH):c.1200-4T>A
|
rs2136632220
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1200-8G>C
|
rs62507261
|
|
NM_000277.3(PAH):c.1200-8G>T
|
rs62507261
|
|
NM_000277.3(PAH):c.1200-9T>C
|
rs1329150180
|
|
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser)
|
|
|
NM_000277.3(PAH):c.1215A>G (p.Thr405=)
|
|
|
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)
|
rs62644465
|
|
NM_000277.3(PAH):c.121C>T (p.Leu41Phe)
|
rs62642928
|
|
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)
|
rs62644473
|
|
NM_000277.3(PAH):c.1221T>G (p.Pro407=)
|
|
|
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)
|
rs62644475
|
|
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)
|
rs62644467
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1245C>T (p.Asp415=)
|
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.1248A>C (p.Pro416=)
|
rs1874540728
|
|
NM_000277.3(PAH):c.1248A>G (p.Pro416=)
|
|
|
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)
|
rs1371700813
|
|
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)
|
rs62644501
|
|
NM_000277.3(PAH):c.1253C>A (p.Thr418Asn)
|
|
|
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)
|
rs1874539947
|
|
NM_000277.3(PAH):c.1254C>A (p.Thr418=)
|
rs755787172
|
|
NM_000277.3(PAH):c.1257A>G (p.Gln419=)
|
rs2136632019
|
|
NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)
|
|
|
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)
|
rs767075719
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys)
|
rs199475621
|
|
NM_000277.3(PAH):c.1266G>A (p.Glu422=)
|
|
|
NM_000277.3(PAH):c.127del (p.Glu43fs)
|
rs2136728245
|
|
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)
|
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1287G>A (p.Gln429=)
|
rs2136631945
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1305T>C (p.Asp435=)
|
|
|
NM_000277.3(PAH):c.1315+10T>G
|
|
|
NM_000277.3(PAH):c.1315+13C>T
|
|
|
NM_000277.3(PAH):c.1315+14del
|
|
|
NM_000277.3(PAH):c.1315+16C>A
|
|
|
NM_000277.3(PAH):c.1315+17T>C
|
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.1315+4A>G
|
rs62508649
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.1315+7A>C
|
|
|
NM_000277.3(PAH):c.1315+9T>C
|
rs199979357
|
|
NM_000277.3(PAH):c.1316-11T>C
|
|
|
NM_000277.3(PAH):c.1316-17G>A
|
|
|
NM_000277.3(PAH):c.1316-8C>A
|
rs2136630870
|
|
NM_000277.3(PAH):c.1316-9T>C
|
|
|
NM_000277.3(PAH):c.1329C>A (p.Ile443=)
|
rs1285012083
|
|
NM_000277.3(PAH):c.1332T>G (p.Leu444=)
|
rs957481163
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
NM_000277.3(PAH):c.133G>T (p.Val45Phe)
|
rs1878255139
|
|
NM_000277.3(PAH):c.1341C>A (p.Ala447=)
|
rs2136630826
|
|
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000277.3(PAH):c.1344C>T (p.Leu448=)
|
rs747923532
|
|
NM_000277.3(PAH):c.1353A>C (p.Ile451=)
|
rs1440206706
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.135T>C (p.Val45=)
|
rs773425620
|
|
NM_000277.3(PAH):c.146C>T (p.Ala49Val)
|
rs1878253465
|
|
NM_000277.3(PAH):c.147C>G (p.Ala49=)
|
rs2136728129
|
|
NM_000277.3(PAH):c.148A>G (p.Lys50Glu)
|
|
|
NM_000277.3(PAH):c.153A>T (p.Val51=)
|
rs2136728110
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.157C>A (p.Arg53Ser)
|
rs199475619
|
|
NM_000277.3(PAH):c.159C>T (p.Arg53=)
|
rs2136728068
|
|
NM_000277.3(PAH):c.165T>C (p.Phe55=)
|
rs199475598
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+13A>G
|
|
|
NM_000277.3(PAH):c.168+14T>C
|
|
|
NM_000277.3(PAH):c.168+17T>C
|
|
|
NM_000277.3(PAH):c.168+18G>T
|
|
|
NM_000277.3(PAH):c.168+19T>G
|
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+2T>A
|
rs1025860114
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168G>T (p.Glu56Asp)
|
rs199475567
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.169-10T>C
|
rs536596014
|
|
NM_000277.3(PAH):c.169-10T>G
|
rs536596014
|
|
NM_000277.3(PAH):c.169-16_169-15del
|
|
|
NM_000277.3(PAH):c.169-18C>A
|
|
|
NM_000277.3(PAH):c.169-5T>A
|
rs2136702231
|
|
NM_000277.3(PAH):c.169-7C>G
|
rs2136702235
|
|
NM_000277.3(PAH):c.169-8T>C
|
|
|
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)
|
rs199475651
|
|
NM_000277.3(PAH):c.182A>G (p.Asn61Ser)
|
rs2136702181
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.184C>T (p.Leu62=)
|
|
|
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn)
|
rs1877437047
|
|
NM_000277.3(PAH):c.192C>T (p.His64=)
|
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.1A>T (p.Met1Leu)
|
rs62514891
|
|
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
|
|
|
NM_000277.3(PAH):c.200C>G (p.Ser67Cys)
|
rs2136702072
|
|
NM_000277.3(PAH):c.201T>G (p.Ser67=)
|
rs1368765465
|
|
NM_000277.3(PAH):c.204A>G (p.Arg68=)
|
|
|
NM_000277.3(PAH):c.205C>T (p.Pro69Ser)
|
rs199475678
|
|
NM_000277.3(PAH):c.206C>T (p.Pro69Leu)
|
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
NM_000277.3(PAH):c.212G>C (p.Arg71Pro)
|
rs62508695
|
|
NM_000277.3(PAH):c.214T>G (p.Leu72Val)
|
|
|
NM_000277.3(PAH):c.21A>G (p.Glu7=)
|
rs2136734114
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
NM_000277.3(PAH):c.227A>C (p.Glu76Ala)
|
rs62507347
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.228G>A (p.Glu76=)
|
|
|
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
|
|
|
NM_000277.3(PAH):c.22A>G (p.Asn8Asp)
|
|
|
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)
|
rs62507326
|
|
NM_000277.3(PAH):c.234A>T (p.Glu78Asp)
|
rs2136701879
|
|
NM_000277.3(PAH):c.23del (p.Asn8fs)
|
|
|
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)
|
rs796064502
|
|
NM_000277.3(PAH):c.247T>C (p.Leu83=)
|
rs2136701833
|
|
NM_000277.3(PAH):c.250G>A (p.Asp84Asn)
|
|
|
NM_000277.3(PAH):c.257G>A (p.Arg86His)
|
|
|
NM_000277.3(PAH):c.261C>T (p.Ser87=)
|
rs62516151
|
|
NM_000277.3(PAH):c.264G>A (p.Leu88=)
|
|
|
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
|
|
|
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)
|
rs62507270
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.27A>C (p.Pro9=)
|
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)
|
rs281865432
|
|
NM_000277.3(PAH):c.285C>T (p.Ile95=)
|
rs1877427309
|
|
NM_000277.3(PAH):c.291C>T (p.Ile97=)
|
rs2136701670
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.295A>G (p.Arg99Gly)
|
rs2136701651
|
|
NM_000277.3(PAH):c.297G>A (p.Arg99=)
|
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.303C>T (p.Asp101=)
|
|
|
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)
|
rs62508591
|
|
NM_000277.3(PAH):c.308G>A (p.Gly103Asp)
|
rs2136701578
|
|
NM_000277.3(PAH):c.309T>G (p.Gly103=)
|
rs2136701573
|
|
NM_000277.3(PAH):c.312C>T (p.Ala104=)
|
|
|
NM_000277.3(PAH):c.320A>C (p.His107Pro)
|
rs542645236
|
|
NM_000277.3(PAH):c.327T>C (p.Leu109=)
|
rs1229487239
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.330A>G (p.Ser110=)
|
|
|
NM_000277.3(PAH):c.339G>A (p.Lys113=)
|
|
|
NM_000277.3(PAH):c.342G>A (p.Lys114=)
|
rs2136701489
|
|
NM_000277.3(PAH):c.352+10A>C
|
rs559561517
|
|
NM_000277.3(PAH):c.352+16A>G
|
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.352+7A>C
|
|
|
NM_000277.3(PAH):c.352+7A>T
|
rs2136701430
|
|
NM_000277.3(PAH):c.353-14T>C
|
|
|
NM_000277.3(PAH):c.353-16C>T
|
|
|
NM_000277.3(PAH):c.353-18G>A
|
|
|
NM_000277.3(PAH):c.353-1G>A
|
rs1876628530
|
|
NM_000277.3(PAH):c.353-4T>G
|
rs2136679249
|
|
NM_000277.3(PAH):c.353-7G>A
|
rs2136679264
|
|
NM_000277.3(PAH):c.353-7G>T
|
rs2136679264
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
NM_000277.3(PAH):c.353-8T>C
|
rs1174392751
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357C>T (p.Pro119=)
|
rs2136679226
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.361T>C (p.Phe121Leu)
|
|
|
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)
|
rs1466564208
|
|
NM_000277.3(PAH):c.365C>A (p.Pro122Gln)
|
rs199475622
|
|
NM_000277.3(PAH):c.365del (p.Pro122fs)
|
rs1876626818
|
|
NM_000277.3(PAH):c.366A>G (p.Pro122=)
|
|
|
NM_000277.3(PAH):c.368G>T (p.Arg123Ile)
|
rs199475681
|
|
NM_000277.3(PAH):c.371C>A (p.Thr124Asn)
|
|
|
NM_000277.3(PAH):c.375T>C (p.Ile125=)
|
rs1028484259
|
|
NM_000277.3(PAH):c.381G>A (p.Glu127=)
|
rs767127989
|
|
NM_000277.3(PAH):c.384G>A (p.Leu128=)
|
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
NM_000277.3(PAH):c.392T>C (p.Phe131Ser)
|
rs1876624286
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.39G>A (p.Arg13=)
|
|
|
NM_000277.3(PAH):c.3G>A (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.3G>C (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.419C>T (p.Ala140Val)
|
|
|
NM_000277.3(PAH):c.420G>T (p.Ala140=)
|
rs200366386
|
|
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)
|
rs199475572
|
|
NM_000277.3(PAH):c.432T>C (p.Ala144=)
|
|
|
NM_000277.3(PAH):c.435C>T (p.Asp145=)
|
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.441+10T>C
|
|
|
NM_000277.3(PAH):c.441+12G>A
|
rs767307581
|
|
NM_000277.3(PAH):c.441+16G>A
|
|
|
NM_000277.3(PAH):c.441+16G>T
|
|
|
NM_000277.3(PAH):c.441+18del
|
|
|
NM_000277.3(PAH):c.441+20G>T
|
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.441+8C>T
|
rs777613969
|
|
NM_000277.3(PAH):c.442-10T>C
|
|
|
NM_000277.3(PAH):c.442-14C>G
|
|
|
NM_000277.3(PAH):c.442-17T>C
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.442-4C>G
|
rs987125136
|
|
NM_000277.3(PAH):c.442-4C>T
|
|
|
NM_000277.3(PAH):c.442-7C>A
|
|
|
NM_000277.3(PAH):c.442-7C>T
|
|
|
NM_000277.3(PAH):c.443G>A (p.Gly148Asp)
|
rs1555205655
|
|
NM_000277.3(PAH):c.447T>C (p.Phe149=)
|
rs770990005
|
|
NM_000277.3(PAH):c.44T>G (p.Leu15Arg)
|
|
|
NM_000277.3(PAH):c.450dup (p.Asp151fs)
|
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
NM_000277.3(PAH):c.458T>C (p.Val153Ala)
|
|
|
NM_000277.3(PAH):c.45C>G (p.Leu15=)
|
|
|
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys)
|
rs1565853526
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
|
NM_000277.3(PAH):c.462C>T (p.Tyr154=)
|
rs1191473722
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
NM_000277.3(PAH):c.465T>C (p.Arg155=)
|
|
|
NM_000277.3(PAH):c.467C>G (p.Ala156Gly)
|
rs570748767
|
|
NM_000277.3(PAH):c.467C>T (p.Ala156Val)
|
rs570748767
|
|
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)
|
rs199475611
|
|
NM_000277.3(PAH):c.471A>G (p.Arg157=)
|
|
|
NM_000277.3(PAH):c.472C>G (p.Arg158Gly)
|
|
|
NM_000277.3(PAH):c.474G>A (p.Arg158=)
|
rs2136663312
|
|
NM_000277.3(PAH):c.477G>A (p.Lys159=)
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.489C>T (p.Asp163=)
|
rs1315260421
|
|
NM_000277.3(PAH):c.491T>C (p.Ile164Thr)
|
rs199475595
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.493_496del (p.Ala165fs)
|
|
|
NM_000277.3(PAH):c.495C>T (p.Ala165=)
|
rs1875979842
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
NM_000277.3(PAH):c.504C>T (p.Tyr168=)
|
|
|
NM_000277.3(PAH):c.505C>A (p.Arg169Ser)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
NM_000277.3(PAH):c.509+15C>T
|
|
|
NM_000277.3(PAH):c.509+17T>C
|
|
|
NM_000277.3(PAH):c.509+19T>C
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.509+9del
|
|
|
NM_000277.3(PAH):c.509A>C (p.His170Pro)
|
rs199475573
|
|
NM_000277.3(PAH):c.510-10T>C
|
rs1256834291
|
|
NM_000277.3(PAH):c.510-14T>C
|
|
|
NM_000277.3(PAH):c.510-16T>G
|
rs2136649964
|
|
NM_000277.3(PAH):c.510-20A>G
|
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
NM_000277.3(PAH):c.510-21_687delinsCCA
|
rs2136649216
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
NM_000277.3(PAH):c.510-7A>G
|
|
|
NM_000277.3(PAH):c.510-8T>C
|
|
|
NM_000277.3(PAH):c.510-9G>A
|
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.511G>C (p.Gly171Arg)
|
rs199475613
|
|
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)
|
rs199475588
|
|
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
|
|
|
NM_000277.3(PAH):c.516G>C (p.Gln172His)
|
rs192592111
|
|
NM_000277.3(PAH):c.521T>A (p.Ile174Asn)
|
|
|
NM_000277.3(PAH):c.526C>A (p.Arg176=)
|
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
NM_000277.3(PAH):c.527G>C (p.Arg176Pro)
|
rs74486803
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.543G>A (p.Glu181=)
|
|
|
NM_000277.3(PAH):c.544G>A (p.Glu182Lys)
|
rs2136649777
|
|
NM_000277.3(PAH):c.547G>T (p.Glu183Ter)
|
rs199475664
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
NM_000277.3(PAH):c.552_554del (p.Lys185del)
|
|
|
NM_000277.3(PAH):c.553A>G (p.Lys185Glu)
|
|
|
NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT
|
|
|
NM_000277.3(PAH):c.553_706+647del
|
|
|
NM_000277.3(PAH):c.556A>G (p.Thr186Ala)
|
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.557C>T (p.Thr186Ile)
|
rs1875371404
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.562G>A (p.Gly188Ser)
|
rs2136649680
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.563del (p.Gly188fs)
|
rs62507260
|
|
NM_000277.3(PAH):c.567A>G (p.Thr189=)
|
rs1368976942
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.570G>A (p.Val190=)
|
rs2136649631
|
|
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
|
|
|
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer)
|
rs2136649605
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.60+10G>A
|
rs1878409841
|
|
NM_000277.3(PAH):c.60+12C>T
|
|
|
NM_000277.3(PAH):c.60+17T>A
|
|
|
NM_000277.3(PAH):c.60+19A>G
|
|
|
NM_000277.3(PAH):c.60+7_60+12del
|
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.602A>G (p.His201Arg)
|
rs62517180
|
|
NM_000277.3(PAH):c.603T>G (p.His201Gln)
|
rs751977644
|
|
NM_000277.3(PAH):c.61-10T>C
|
|
|
NM_000277.3(PAH):c.61-13T>C
|
|
|
NM_000277.3(PAH):c.61-15C>A
|
|
|
NM_000277.3(PAH):c.61-15C>T
|
|
|
NM_000277.3(PAH):c.61-17T>C
|
|
|
NM_000277.3(PAH):c.61-19A>G
|
|
|
NM_000277.3(PAH):c.61-4G>A
|
|
|
NM_000277.3(PAH):c.61-4del
|
|
|
NM_000277.3(PAH):c.61-6C>T
|
rs2136728439
|
|
NM_000277.3(PAH):c.61-9A>C
|
|
|
NM_000277.3(PAH):c.61-9A>T
|
rs2136728443
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.613G>A (p.Glu205Lys)
|
rs63083560
|
|
NM_000277.3(PAH):c.614A>G (p.Glu205Gly)
|
rs62508593
|
|
NM_000277.3(PAH):c.615G>A (p.Glu205=)
|
|
|
NM_000277.3(PAH):c.615G>C (p.Glu205Asp)
|
rs765552494
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.626T>C (p.Ile209Thr)
|
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.632dup (p.Leu212fs)
|
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
|
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)
|
rs62508617
|
|
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
|
|
|
NM_000277.3(PAH):c.651T>C (p.Cys217=)
|
rs2136649339
|
|
NM_000277.3(PAH):c.654C>G (p.Gly218=)
|
rs777465976
|
|
NM_000277.3(PAH):c.654C>T (p.Gly218=)
|
rs777465976
|
|
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)
|
|
|
NM_000277.3(PAH):c.657C>T (p.Phe219=)
|
|
|
NM_000277.3(PAH):c.661G>A (p.Glu221Lys)
|
rs2136649314
|
|
NM_000277.3(PAH):c.662A>G (p.Glu221Gly)
|
rs62514934
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.665A>T (p.Asp222Val)
|
rs62507319
|
|
NM_000277.3(PAH):c.666T>G (p.Asp222Glu)
|
rs1263259211
|
|
NM_000277.3(PAH):c.669C>T (p.Asn223=)
|
rs1875356807
|
|
NM_000277.3(PAH):c.66A>C (p.Thr22=)
|
rs2136728416
|
|
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
|
|
|
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
|
|
|
NM_000277.3(PAH):c.675C>T (p.Pro225=)
|
rs2136649258
|
|
NM_000277.3(PAH):c.678G>C (p.Gln226His)
|
rs62508615
|
|
NM_000277.3(PAH):c.679C>T (p.Leu227=)
|
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.686dup (p.Asp229fs)
|
rs1565848110
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000277.3(PAH):c.692C>T (p.Ser231Phe)
|
rs62508577
|
|
NM_000277.3(PAH):c.703C>A (p.Gln235Lys)
|
rs1237792711
|
|
NM_000277.3(PAH):c.703C>T (p.Gln235Ter)
|
rs1237792711
|
|
NM_000277.3(PAH):c.706+11A>C
|
|
|
NM_000277.3(PAH):c.706+11A>T
|
|
|
NM_000277.3(PAH):c.706+12T>G
|
|
|
NM_000277.3(PAH):c.706+19C>A
|
|
|
NM_000277.3(PAH):c.706+8C>A
|
rs2136649125
|
|
NM_000277.3(PAH):c.706+8C>T
|
rs2136649125
|
|
NM_000277.3(PAH):c.706+9A>G
|
|
|
NM_000277.3(PAH):c.707-12T>C
|
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
NM_000277.3(PAH):c.707-17_707-14del
|
|
|
NM_000277.3(PAH):c.707-18T>C
|
rs779692890
|
|
NM_000277.3(PAH):c.707-18T>G
|
|
|
NM_000277.3(PAH):c.707-1G>A
|
rs62507269
|
|
NM_000277.3(PAH):c.707-2A>T
|
|
|
NM_000277.3(PAH):c.707-4C>A
|
|
|
NM_000277.3(PAH):c.707-59C>G
|
|
|
NM_000277.3(PAH):c.707-8C>T
|
rs764946616
|
|
NM_000277.3(PAH):c.713C>T (p.Thr238Ile)
|
|
|
NM_000277.3(PAH):c.714T>A (p.Thr238=)
|
rs2136646476
|
|
NM_000277.3(PAH):c.714T>C (p.Thr238=)
|
|
|
NM_000277.3(PAH):c.716G>A (p.Gly239Asp)
|
rs62507283
|
|
NM_000277.3(PAH):c.716G>C (p.Gly239Ala)
|
rs62507283
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
|
NM_000277.3(PAH):c.721C>A (p.Arg241Ser)
|
rs76687508
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.72T>C (p.Tyr24=)
|
rs2136728385
|
|
NM_000277.3(PAH):c.732T>G (p.Pro244=)
|
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.734T>A (p.Val245Glu)
|
rs76212747
|
|
NM_000277.3(PAH):c.737C>A (p.Ala246Asp)
|
rs199475610
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.742C>T (p.Leu248=)
|
|
|
NM_000277.3(PAH):c.750C>A (p.Ser250=)
|
rs1592953026
|
|
NM_000277.3(PAH):c.750C>T (p.Ser250=)
|
rs1592953026
|
|
NM_000277.3(PAH):c.752C>T (p.Ser251Phe)
|
|
|
NM_000277.3(PAH):c.754C>A (p.Arg252=)
|
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.755G>C (p.Arg252Pro)
|
rs62644503
|
|
NM_000277.3(PAH):c.756G>A (p.Arg252=)
|
rs1320172123
|
|
NM_000277.3(PAH):c.75T>C (p.Ile25=)
|
rs1592988950
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
NM_000277.3(PAH):c.771C>A (p.Gly257=)
|
rs544995045
|
|
NM_000277.3(PAH):c.774G>A (p.Leu258=)
|
rs2136646229
|
|
NM_000277.3(PAH):c.774G>T (p.Leu258=)
|
rs2136646229
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
|
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.783A>G (p.Arg261=)
|
rs2136646206
|
|
NM_000277.3(PAH):c.789C>A (p.Phe263Leu)
|
rs62642944
|
|
NM_000277.3(PAH):c.789C>T (p.Phe263=)
|
|
|
NM_000277.3(PAH):c.78del (p.Asp27fs)
|
|
|
NM_000277.3(PAH):c.791A>G (p.His264Arg)
|
rs199475580
|
|
NM_000277.3(PAH):c.792C>T (p.His264=)
|
rs912042558
|
|
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)
|
rs62507335
|
|
NM_000277.3(PAH):c.795C>T (p.Cys265=)
|
rs1231529155
|
|
NM_000277.3(PAH):c.796A>G (p.Thr266Ala)
|
rs62508752
|
|
NM_000277.3(PAH):c.799C>T (p.Gln267Ter)
|
rs199475676
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.801G>A (p.Gln267=)
|
rs199475675
|
|
NM_000277.3(PAH):c.801del (p.Gln267fs)
|
rs1875230062
|
|
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)
|
rs1565846805
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.805A>G (p.Ile269Val)
|
rs62508692
|
|
NM_000277.3(PAH):c.807C>A (p.Ile269=)
|
|
|
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del)
|
|
|
NM_000277.3(PAH):c.811C>A (p.His271Asn)
|
|
|
NM_000277.3(PAH):c.816A>G (p.Gly272=)
|
|
|
NM_000277.3(PAH):c.81C>T (p.Asp27=)
|
rs1878258443
|
|
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
|
rs199475581
|
|
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)
|
rs62508691
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)
|
rs62508715
|
|
NM_000277.3(PAH):c.826A>G (p.Met276Val)
|
rs62516149
|
|
NM_000277.3(PAH):c.827T>A (p.Met276Lys)
|
rs62508722
|
|
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
NM_000277.3(PAH):c.835C>A (p.Pro279Thr)
|
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.837dup (p.Glu280fs)
|
|
|
NM_000277.3(PAH):c.838G>C (p.Glu280Gln)
|
rs62508698
|
|
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
|
|
|
NM_000277.3(PAH):c.839A>G (p.Glu280Gly)
|
rs62508734
|
|
NM_000277.3(PAH):c.842+11T>C
|
|
|
NM_000277.3(PAH):c.842+20T>C
|
|
|
NM_000277.3(PAH):c.842+20T>G
|
|
|
NM_000277.3(PAH):c.842+2T>A
|
rs62514955
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000277.3(PAH):c.842C>G (p.Pro281Arg)
|
rs5030851
|
|
NM_000277.3(PAH):c.843-11C>G
|
|
|
NM_000277.3(PAH):c.843-8T>C
|
rs2136645006
|
|
NM_000277.3(PAH):c.843-9G>C
|
rs2136645008
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)
|
rs199475660
|
|
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)
|
rs62508739
|
|
NM_000277.3(PAH):c.858G>A (p.Glu286=)
|
rs556021587
|
|
NM_000277.3(PAH):c.861G>T (p.Leu287=)
|
rs754686336
|
|
NM_000277.3(PAH):c.867A>T (p.Gly289=)
|
|
|
NM_000277.3(PAH):c.868C>T (p.His290Tyr)
|
rs1486763160
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
NM_000277.3(PAH):c.870T>A (p.His290Gln)
|
|
|
NM_000277.3(PAH):c.873_880del (p.Pro292fs)
|
|
|
NM_000277.3(PAH):c.876C>A (p.Pro292=)
|
|
|
NM_000277.3(PAH):c.880T>A (p.Phe294Ile)
|
rs1565846198
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.888T>C (p.Asp296=)
|
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
|
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.901del (p.Gln301fs)
|
|
|
NM_000277.3(PAH):c.907del (p.Ser303fs)
|
rs62642920
|
|
NM_000277.3(PAH):c.912+15T>G
|
|
|
NM_000277.3(PAH):c.912+18dup
|
|
|
NM_000277.3(PAH):c.912+20G>T
|
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000277.3(PAH):c.912+9T>C
|
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-18A>G
|
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.913-2A>G
|
rs1555203951
|
|
NM_000277.3(PAH):c.913-5T>C
|
|
|
NM_000277.3(PAH):c.913-8A>C
|
|
|
NM_000277.3(PAH):c.913-9C>T
|
rs2136639713
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
|
|
|
NM_000277.3(PAH):c.921C>T (p.Gly307=)
|
rs920882128
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.927C>T (p.Ala309=)
|
rs1449406538
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.930T>C (p.Ser310=)
|
|
|
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer)
|
rs62651568
|
|
NM_000277.3(PAH):c.935G>T (p.Gly312Val)
|
rs62642915
|
|
NM_000277.3(PAH):c.936T>A (p.Gly312=)
|
rs776778122
|
|
NM_000277.3(PAH):c.938C>A (p.Ala313Glu)
|
rs62642914
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
|
NM_000277.3(PAH):c.940C>T (p.Pro314Ser)
|
rs199475650
|
|
NM_000277.3(PAH):c.945T>A (p.Asp315Glu)
|
rs1180470263
|
|
NM_000277.3(PAH):c.947A>T (p.Glu316Val)
|
rs1874873096
|
|
NM_000277.3(PAH):c.950A>G (p.Tyr317Cys)
|
rs2136639547
|
|
NM_000277.3(PAH):c.951C>T (p.Tyr317=)
|
rs2136639538
|
|
NM_000277.3(PAH):c.952A>G (p.Ile318Val)
|
|
|
NM_000277.3(PAH):c.954T>C (p.Ile318=)
|
rs2136639524
|
|
NM_000277.3(PAH):c.957_958insTT (p.Lys320fs)
|
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969+14C>G
|
|
|
NM_000277.3(PAH):c.969+14C>T
|
|
|
NM_000277.3(PAH):c.969+16C>T
|
|
|
NM_000277.3(PAH):c.969+18C>T
|
|
|
NM_000277.3(PAH):c.969+19T>C
|
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
NM_000277.3(PAH):c.969+2T>G
|
rs1477313214
|
|
NM_000277.3(PAH):c.969+5G>A
|
rs62508637
|
|
NM_000277.3(PAH):c.969+9C>G
|
rs1448283369
|
|
NM_000277.3(PAH):c.970-7A>T
|
rs745670264
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)
|
rs62508573
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
NM_000277.3(PAH):c.983C>T (p.Thr328Ile)
|
rs886042096
|
|
NM_000277.3(PAH):c.98G>T (p.Gly33Val)
|
|
|
NM_000277.3(PAH):c.990G>A (p.Glu330=)
|
|
|
NM_000277.3(PAH):c.990G>C (p.Glu330Asp)
|
rs62508580
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|
NM_000277.3(PAH):c.993T>C (p.Phe331=)
|
|
|
NM_000277.3(PAH):c.999C>G (p.Leu333=)
|
rs777221457
|
|
NM_000277.3(PAH):c.999C>T (p.Leu333=)
|
rs777221457
|
|