NM_000277.3(PAH):c.441+47C>T
|
rs1718301
|
0.37849
|
NM_000277.3(PAH):c.969+43G>T
|
rs1522306
|
0.36369
|
NM_000277.3(PAH):c.696= (p.Gln232=)
|
rs1126758
|
0.35009
|
NM_000277.3(PAH):c.510-54G>A
|
rs2251905
|
0.32128
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_000277.3(PAH):c.1065+97G>A
|
rs12580432
|
0.21736
|
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.-71A>C
|
rs2280615
|
0.14554
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000277.2(PAH):c.-147C>T
|
rs62517177
|
0.02849
|
NM_000277.3(PAH):c.1316-35C>T
|
rs62509021
|
0.01677
|
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.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.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.194T>C (p.Ile65Thr)
|
rs75193786
|
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.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.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
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.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.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
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.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
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.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
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.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.1157A>G (p.Tyr386Cys)
|
rs62516141
|
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.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
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.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
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.283A>T (p.Ile95Phe)
|
rs62508682
|
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.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.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1101G>A (p.Leu367=)
|
rs62508648
|
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.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.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)
|
rs199475677
|
0.00001
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
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.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
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.386A>G (p.Asp129Gly)
|
rs199475623
|
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.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)
|
rs199475626
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
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.559T>C (p.Trp187Arg)
|
rs62507272
|
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.59A>T (p.Gln20Leu)
|
rs199475662
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
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.694C>T (p.Gln232Ter)
|
rs62507348
|
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.737C>T (p.Ala246Val)
|
rs199475610
|
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.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
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.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)
|
rs62642095
|
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.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.943G>T (p.Asp315Tyr)
|
rs62642917
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000277.3(PAH):c.997C>T (p.Leu333Phe)
|
rs62516060
|
0.00001
|
NM_000277.1(PAH):c.169-?_352+?del
|
|
|
NM_000277.1(PAH):c.442-?_509+?del
|
|
|
NM_000277.1(PAH):c.442-?_706+?del
|
|
|
NM_000277.1:c.1-?_168+?del
|
|
|
NM_000277.2(PAH):c.-225G>A
|
rs199475594
|
|
NM_000277.2(PAH):c.1066_1067ins6
|
|
|
NM_000277.2(PAH):c.1200-1delG
|
rs63186960
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.-1C>T
|
rs62507266
|
|
NM_000277.3(PAH):c.-4172_-406del3767
|
|
|
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser)
|
rs62517174
|
|
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)
|
rs62516061
|
|
NM_000277.3(PAH):c.1007A>G (p.Gln336Arg)
|
rs62508735
|
|
NM_000277.3(PAH):c.1010G>T (p.Gly337Val)
|
rs62517206
|
|
NM_000277.3(PAH):c.1019T>C (p.Ile340Thr)
|
rs62508720
|
|
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)
|
rs62517200
|
|
NM_000277.3(PAH):c.1022A>C (p.Lys341Thr)
|
rs62516153
|
|
NM_000277.3(PAH):c.1022A>G (p.Lys341Arg)
|
rs62516153
|
|
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.1027T>G (p.Tyr343Asp)
|
rs62508651
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1028A>T (p.Tyr343Phe)
|
rs62507265
|
|
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)
|
rs62508679
|
|
NM_000277.3(PAH):c.1030G>C (p.Gly344Arg)
|
rs62508679
|
|
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)
|
rs62508582
|
|
NM_000277.3(PAH):c.1031G>T (p.Gly344Val)
|
rs62508582
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1036G>A (p.Gly346Arg)
|
rs62508688
|
|
NM_000277.3(PAH):c.1036G>C (p.Gly346Arg)
|
rs62508688
|
|
NM_000277.3(PAH):c.1038del (p.Leu347fs)
|
rs62516063
|
|
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe)
|
rs62516154
|
|
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs)
|
rs199475600
|
|
NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)
|
rs62516157
|
|
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)
|
rs62507279
|
|
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)
|
rs62507279
|
|
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)
|
rs62517183
|
|
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)
|
rs62508628
|
|
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg)
|
rs62508686
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1056del (p.Glu353fs)
|
rs62507350
|
|
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)
|
rs199475633
|
|
NM_000277.3(PAH):c.1065+1G>A
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+32T>A
|
rs62508724
|
|
NM_000277.3(PAH):c.1065+3A>C
|
rs62508689
|
|
NM_000277.3(PAH):c.1065+3A>G
|
rs62508689
|
|
NM_000277.3(PAH):c.1065+7C>A
|
rs62508639
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1066-1G>A
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-31G>A
|
rs199475685
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)
|
rs62508595
|
|
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)
|
rs5030854
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1087_1088del (p.Lys363fs)
|
rs199475667
|
|
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)
|
rs63329263
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1092_1094del (p.Leu365del)
|
rs62516096
|
|
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)
|
rs62516097
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1099dup (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro)
|
rs62508574
|
|
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg)
|
rs62507268
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)
|
rs62508717
|
|
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)
|
rs62516099
|
|
NM_000277.3(PAH):c.111dup (p.Ile38fs)
|
rs199475674
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.1129del (p.Tyr377fs)
|
rs62642941
|
|
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)
|
rs62642942
|
|
NM_000277.3(PAH):c.1132A>T (p.Thr378Ser)
|
rs62642911
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)
|
rs199475691
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1162G>C (p.Val388Leu)
|
rs62516101
|
|
NM_000277.3(PAH):c.1163_1164del (p.Val388fs)
|
rs199475629
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser)
|
rs199475695
|
|
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.1184C>A (p.Ala395Asp)
|
rs62508736
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
NM_000277.3(PAH):c.1196_1199del (p.Val399fs)
|
rs199475603
|
|
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+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+2T>C
|
rs62508737
|
|
NM_000277.3(PAH):c.1199+5G>T
|
rs62508674
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
NM_000277.3(PAH):c.119C>T (p.Ser40Leu)
|
rs62642938
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu)
|
rs62508725
|
|
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)
|
rs62644469
|
|
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.1220del (p.Pro407fs)
|
rs62644489
|
|
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser)
|
rs62644475
|
|
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)
|
rs62644475
|
|
NM_000277.3(PAH):c.122T>C (p.Leu41Pro)
|
rs62642916
|
|
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)
|
rs62644477
|
|
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.1249T>A (p.Tyr417Asn)
|
rs62644471
|
|
NM_000277.3(PAH):c.1249T>C (p.Tyr417His)
|
rs62644471
|
|
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)
|
rs62644501
|
|
NM_000277.3(PAH):c.125A>T (p.Lys42Ile)
|
rs62635346
|
|
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.1264G>A (p.Glu422Lys)
|
rs199475621
|
|
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser)
|
rs199475670
|
|
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)
|
rs199475607
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
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.1316-15T>C
|
rs62508635
|
|
NM_000277.3(PAH):c.1316-5T>C
|
rs62509020
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.137del (p.Gly46fs)
|
rs199475591
|
|
NM_000277.3(PAH):c.140C>A (p.Ala47Glu)
|
rs118203925
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.163_165del (p.Phe55del)
|
rs199475631
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168+5G>T
|
rs62507288
|
|
NM_000277.3(PAH):c.168+6T>G
|
rs62516144
|
|
NM_000277.3(PAH):c.168G>A (p.Glu56=)
|
rs199475567
|
|
NM_000277.3(PAH):c.168G>T (p.Glu56Asp)
|
rs199475567
|
|
NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG
|
|
|
NM_000277.3(PAH):c.175G>T (p.Asp59Tyr)
|
rs199475635
|
|
NM_000277.3(PAH):c.176A>G (p.Asp59Gly)
|
rs199475672
|
|
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)
|
rs199475651
|
|
NM_000277.3(PAH):c.187A>C (p.Thr63Pro)
|
rs199475568
|
|
NM_000277.3(PAH):c.190C>A (p.His64Asn)
|
rs199475569
|
|
NM_000277.3(PAH):c.190del (p.His64fs)
|
rs672601294
|
|
NM_000277.3(PAH):c.194T>A (p.Ile65Asn)
|
rs75193786
|
|
NM_000277.3(PAH):c.194T>G (p.Ile65Ser)
|
rs75193786
|
|
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.202A>G (p.Arg68Gly)
|
rs199475639
|
|
NM_000277.3(PAH):c.205C>T (p.Pro69Ser)
|
rs199475678
|
|
NM_000277.3(PAH):c.208T>C (p.Ser70Pro)
|
rs63048261
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
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.231T>G (p.Tyr77Ter)
|
rs62507332
|
|
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)
|
rs62507326
|
|
NM_000277.3(PAH):c.241_256del (p.Thr81fs)
|
rs63749677
|
|
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)
|
rs62507270
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.2T>G (p.Met1Arg)
|
rs62508575
|
|
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)
|
rs62508591
|
|
NM_000277.3(PAH):c.329C>T (p.Ser110Leu)
|
rs199475627
|
|
NM_000277.3(PAH):c.344_347del (p.Lys115fs)
|
rs199475648
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.353-6T>A
|
rs62517195
|
|
NM_000277.3(PAH):c.359G>A (p.Trp120Ter)
|
rs199475586
|
|
NM_000277.3(PAH):c.365C>A (p.Pro122Gln)
|
rs199475622
|
|
NM_000277.3(PAH):c.368G>T (p.Arg123Ile)
|
rs199475681
|
|
NM_000277.3(PAH):c.371C>T (p.Thr124Ile)
|
rs199475571
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
NM_000277.3(PAH):c.386A>T (p.Asp129Val)
|
rs199475623
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.3G>A (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.411C>T (p.Ser137=)
|
rs1801146
|
|
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)
|
rs199475572
|
|
NM_000277.3(PAH):c.436C>T (p.His146Tyr)
|
rs199475599
|
|
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+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.443_509+1del
|
rs199475649
|
|
NM_000277.3(PAH):c.451G>C (p.Asp151His)
|
rs199475597
|
|
NM_000277.3(PAH):c.452A>G (p.Asp151Gly)
|
rs199475625
|
|
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn)
|
rs199475587
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
NM_000277.3(PAH):c.466G>C (p.Ala156Pro)
|
rs199475686
|
|
NM_000277.3(PAH):c.46T>C (p.Ser16Pro)
|
rs62642946
|
|
NM_000277.3(PAH):c.470G>A (p.Arg157Lys)
|
rs199475611
|
|
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)
|
rs199475611
|
|
NM_000277.3(PAH):c.471A>C (p.Arg157Ser)
|
rs199475612
|
|
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)
|
rs5030843
|
|
NM_000277.3(PAH):c.479A>C (p.Gln160Pro)
|
rs199475601
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)
|
rs79635844
|
|
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.498C>A (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.502T>C (p.Tyr168His)
|
rs199475646
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.509+1del
|
rs62514911
|
|
NM_000277.3(PAH):c.509+54C>G
|
rs62517171
|
|
NM_000277.3(PAH):c.509+5del
|
rs62517175
|
|
NM_000277.3(PAH):c.509A>G (p.His170Arg)
|
rs199475573
|
|
NM_000277.3(PAH):c.510-6T>A
|
rs62507281
|
|
NM_000277.3(PAH):c.510-6T>G
|
rs62507281
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.512G>C (p.Gly171Ala)
|
rs199475596
|
|
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)
|
rs199475588
|
|
NM_000277.3(PAH):c.517C>A (p.Pro173Thr)
|
rs199475574
|
|
NM_000277.3(PAH):c.521T>C (p.Ile174Thr)
|
rs138809906
|
|
NM_000277.3(PAH):c.523C>G (p.Pro175Ala)
|
rs199475604
|
|
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.533A>T (p.Glu178Val)
|
rs77958223
|
|
NM_000277.3(PAH):c.535T>C (p.Tyr179His)
|
rs199475671
|
|
NM_000277.3(PAH):c.547G>C (p.Glu183Gln)
|
rs199475664
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.563del (p.Gly188fs)
|
rs62507260
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.586_608del (p.Ser196fs)
|
rs62895363
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.590_612del (p.Ser196_Leu197insTer)
|
rs63083561
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.593_614del (p.Tyr198fs)
|
rs63749676
|
|
NM_000277.3(PAH):c.598dup (p.Thr200fs)
|
rs62508643
|
|
NM_000277.3(PAH):c.60+40T>G
|
rs199475683
|
|
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.608G>A (p.Cys203Tyr)
|
rs62507271
|
|
NM_000277.3(PAH):c.609C>G (p.Cys203Trp)
|
rs1801147
|
|
NM_000277.3(PAH):c.60G>C (p.Gln20His)
|
rs199475688
|
|
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>C (p.Glu205Ala)
|
rs62508593
|
|
NM_000277.3(PAH):c.616T>G (p.Tyr206Asp)
|
rs62517170
|
|
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)
|
rs62508728
|
|
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.619A>G (p.Asn207Asp)
|
rs62508572
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
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.649T>G (p.Cys217Gly)
|
rs62508718
|
|
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)
|
rs62508617
|
|
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.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.672T>G (p.Ile224Met)
|
rs199475576
|
|
NM_000277.3(PAH):c.673C>G (p.Pro225Ala)
|
rs199475589
|
|
NM_000277.3(PAH):c.674C>G (p.Pro225Arg)
|
rs62517204
|
|
NM_000277.3(PAH):c.676C>T (p.Gln226Ter)
|
rs62508696
|
|
NM_000277.3(PAH):c.678G>C (p.Gln226His)
|
rs62508615
|
|
NM_000277.3(PAH):c.689T>G (p.Val230Gly)
|
rs199475673
|
|
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.699C>A (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.704A>C (p.Gln235Pro)
|
rs199475656
|
|
NM_000277.3(PAH):c.707-1G>A
|
rs62507269
|
|
NM_000277.3(PAH):c.707-2A>G
|
rs62514938
|
|
NM_000277.3(PAH):c.715G>A (p.Gly239Ser)
|
rs62517178
|
|
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.719T>C (p.Phe240Ser)
|
rs62508594
|
|
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.728G>T (p.Arg243Leu)
|
rs62508588
|
|
NM_000277.3(PAH):c.731C>T (p.Pro244Leu)
|
rs118203923
|
|
NM_000277.3(PAH):c.733G>A (p.Val245Met)
|
rs62508694
|
|
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>A (p.Gly247Ser)
|
rs62508731
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
NM_000277.3(PAH):c.740G>A (p.Gly247Asp)
|
rs199475579
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.743T>C (p.Leu248Pro)
|
rs62507340
|
|
NM_000277.3(PAH):c.743T>G (p.Leu248Arg)
|
rs62507340
|
|
NM_000277.3(PAH):c.746T>A (p.Leu249His)
|
rs62507338
|
|
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)
|
rs5030847
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.760T>A (p.Phe254Ile)
|
rs62642909
|
|
NM_000277.3(PAH):c.763T>G (p.Leu255Val)
|
rs62642931
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
NM_000277.3(PAH):c.769G>A (p.Gly257Ser)
|
rs5030848
|
|
NM_000277.3(PAH):c.769G>T (p.Gly257Cys)
|
rs5030848
|
|
NM_000277.3(PAH):c.770G>A (p.Gly257Asp)
|
rs62642908
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.791A>T (p.His264Leu)
|
rs199475580
|
|
NM_000277.3(PAH):c.793T>G (p.Cys265Gly)
|
rs62517181
|
|
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)
|
rs62507335
|
|
NM_000277.3(PAH):c.796A>G (p.Thr266Ala)
|
rs62508752
|
|
NM_000277.3(PAH):c.797C>A (p.Thr266Lys)
|
rs62508753
|
|
NM_000277.3(PAH):c.799C>G (p.Gln267Glu)
|
rs199475676
|
|
NM_000277.3(PAH):c.801G>C (p.Gln267His)
|
rs199475675
|
|
NM_000277.3(PAH):c.802T>C (p.Tyr268His)
|
rs62507263
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.806T>A (p.Ile269Asn)
|
rs199475644
|
|
NM_000277.3(PAH):c.808A>G (p.Arg270Gly)
|
rs199475690
|
|
NM_000277.3(PAH):c.810A>T (p.Arg270Ser)
|
rs62514951
|
|
NM_000277.3(PAH):c.810_814del (p.His271fs)
|
rs62507286
|
|
NM_000277.3(PAH):c.812A>G (p.His271Arg)
|
rs199475692
|
|
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>G (p.Met276Arg)
|
rs62508722
|
|
NM_000277.3(PAH):c.828G>T (p.Met276Ile)
|
rs62514954
|
|
NM_000277.3(PAH):c.832A>G (p.Thr278Ala)
|
rs62516156
|
|
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.838G>C (p.Glu280Gln)
|
rs62508698
|
|
NM_000277.3(PAH):c.838_842+3del
|
rs199475668
|
|
NM_000277.3(PAH):c.839A>G (p.Glu280Gly)
|
rs62508734
|
|
NM_000277.3(PAH):c.839_840insT (p.Glu280fs)
|
rs199475653
|
|
NM_000277.3(PAH):c.841C>T (p.Pro281Ser)
|
rs199475654
|
|
NM_000277.3(PAH):c.842+1G>T
|
rs5030852
|
|
NM_000277.3(PAH):c.842+2T>A
|
rs62514955
|
|
NM_000277.3(PAH):c.913-5T>G
|
rs62507264
|
|
NM_000277.3(PAH):c.922C>G (p.Leu308Val)
|
rs62642095
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.929C>A (p.Ser310Tyr)
|
rs62642913
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer)
|
rs62651568
|
|
NM_000277.3(PAH):c.935G>A (p.Gly312Asp)
|
rs62642915
|
|
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.941del (p.Pro314fs)
|
rs62642907
|
|
NM_000277.3(PAH):c.953T>C (p.Ile318Thr)
|
rs62642918
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
NM_000277.3(PAH):c.969+5G>A
|
rs62508637
|
|
NM_000277.3(PAH):c.969A>G (p.Thr323=)
|
rs199475637
|
|
NM_000277.3(PAH):c.970-2A>C
|
rs62517199
|
|
NM_000277.3(PAH):c.970-5T>A
|
rs62507273
|
|
NM_000277.3(PAH):c.970-6T>G
|
rs62507274
|
|
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.981T>G (p.Phe327Leu)
|
rs199475642
|
|
NM_000277.3(PAH):c.990G>C (p.Glu330Asp)
|
rs62508580
|
|
NM_000277.3(PAH):c.991T>C (p.Phe331Leu)
|
rs62517179
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|
NM_000277.3(PAH):c.995G>A (p.Gly332Glu)
|
rs62508589
|
|