NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
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.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.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.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.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.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.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.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.745C>T (p.Leu249Phe)
|
rs74503222
|
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.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
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.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.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.1330C>T (p.Leu444Phe)
|
rs1402168594
|
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.169-13T>G
|
rs62507341
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
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.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.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.36del (p.Arg13fs)
|
rs1878413079
|
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.505C>T (p.Arg169Cys)
|
rs281865440
|
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.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.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.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.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.835C>G (p.Pro279Ala)
|
rs1555204441
|
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.968_970del (p.Thr323del)
|
rs199475618
|
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
|
NM_000277.3(PAH):c.997C>T (p.Leu333Phe)
|
rs62516060
|
0.00001
|
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_000012.12: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_000277.1(PAH):c.[353-507G>T;754C>T]
|
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.(?_169)_352+?del
|
|
|
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
|
|
|
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)
|
rs62516061
|
|
NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer)
|
|
|
NM_000277.3(PAH):c.1013A>T (p.Asp338Val)
|
|
|
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)
|
rs62517200
|
|
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.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter)
|
rs1874735553
|
|
NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter)
|
rs1874735553
|
|
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)
|
rs62508582
|
|
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.1043_1053del (p.Leu348fs)
|
rs199475600
|
|
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>A (p.Ser350Tyr)
|
rs62508628
|
|
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+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+241C>A
|
rs2136636327
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1066-1G>A
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-1G>C
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-1G>T
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-2A>T
|
rs281865447
|
|
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>A (p.Cys357Ter)
|
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.1078G>T (p.Glu360Ter)
|
rs2136635903
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)
|
|
|
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.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
|
rs1592947538
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1099dup (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.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1115_1116dup (p.Ala373fs)
|
|
|
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.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
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.1153del (p.Leu385fs)
|
rs1565842203
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter)
|
rs149595475
|
|
NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter)
|
rs149595475
|
|
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.1171_1172del (p.Ser391fs)
|
rs1429055740
|
|
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)
|
|
|
NM_000277.3(PAH):c.1176dup (p.Asn393Ter)
|
|
|
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.1189G>T (p.Glu397Ter)
|
|
|
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+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>T
|
|
|
NM_000277.3(PAH):c.1199+20G>C
|
rs62509018
|
|
NM_000277.3(PAH):c.1199+502A>T
|
rs2136634974
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
NM_000277.3(PAH):c.1200-1G>C
|
rs62507322
|
|
NM_000277.3(PAH):c.1200-2A>C
|
rs1592945607
|
|
NM_000277.3(PAH):c.1200-2A>G
|
rs1592945607
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1215_1219del (p.Ile406fs)
|
rs1874547168
|
|
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.1232C>G (p.Ser411Ter)
|
|
|
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.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys)
|
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter)
|
|
|
NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr)
|
rs62644499
|
|
NM_000277.3(PAH):c.1244A>T (p.Asp415Val)
|
rs2136632085
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
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.1258A>G (p.Arg420Gly)
|
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter)
|
rs199475670
|
|
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)
|
rs1555209575
|
|
NM_000277.3(PAH):c.127del (p.Glu43fs)
|
rs2136728245
|
|
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.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1314_1315+4del
|
rs1334974448
|
|
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.1316-1G>A
|
rs1592944816
|
|
NM_000277.3(PAH):c.1316-2A>C
|
rs760830761
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.137del (p.Gly46fs)
|
rs199475591
|
|
NM_000277.3(PAH):c.13del (p.Val5fs)
|
rs1592991243
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.155del (p.Leu52fs)
|
rs281865165
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+2T>A
|
rs1025860114
|
|
NM_000277.3(PAH):c.168+2T>C
|
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.169-1G>A
|
rs1877439517
|
|
NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG
|
|
|
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)
|
rs140945592
|
|
NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer)
|
rs1592979013
|
|
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)
|
rs199475651
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.184_185insCTGA (p.Leu62fs)
|
rs1592978986
|
|
NM_000277.3(PAH):c.184del (p.Asn61_Leu62insTer)
|
rs1592978992
|
|
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn)
|
rs1877437047
|
|
NM_000277.3(PAH):c.189_190dup (p.His64fs)
|
rs672601294
|
|
NM_000277.3(PAH):c.190_194del (p.Thr63_His64insTer)
|
rs1592978950
|
|
NM_000277.3(PAH):c.190del (p.His64fs)
|
rs672601294
|
|
NM_000277.3(PAH):c.196G>T (p.Glu66Ter)
|
rs281865454
|
|
NM_000277.3(PAH):c.197_204del (p.Glu66fs)
|
rs2136702049
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.199T>G (p.Ser67Ala)
|
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.206dup (p.Ser70fs)
|
rs1592978901
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.210del (p.Arg71fs)
|
rs2136701994
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
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.239dup (p.Thr81fs)
|
rs1592978816
|
|
NM_000277.3(PAH):c.23del (p.Asn8fs)
|
|
|
NM_000277.3(PAH):c.241_256del (p.Thr81fs)
|
rs63749677
|
|
NM_000277.3(PAH):c.253A>T (p.Lys85Ter)
|
rs1877430029
|
|
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)
|
rs62507270
|
|
NM_000277.3(PAH):c.266_267insG (p.Ala90fs)
|
rs1592978760
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.277_280del (p.Asn93fs)
|
|
|
NM_000277.3(PAH):c.280_283del (p.Ile94fs)
|
|
|
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.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
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.30dup (p.Arg13fs)
|
rs1592991220
|
|
NM_000277.3(PAH):c.324_328del (p.Glu108fs)
|
rs1877424058
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)
|
rs1346707834
|
|
NM_000277.3(PAH):c.338_341del (p.Lys113fs)
|
|
|
NM_000277.3(PAH):c.344_347del (p.Lys115fs)
|
rs199475648
|
|
NM_000277.3(PAH):c.346_347del (p.Asp116fs)
|
rs1592978629
|
|
NM_000277.3(PAH):c.350del (p.Thr117fs)
|
rs281865428
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.353-1G>A
|
rs1876628530
|
|
NM_000277.3(PAH):c.353-2A>G
|
rs1876628624
|
|
NM_000277.3(PAH):c.353-2A>T
|
|
|
NM_000277.3(PAH):c.353-6T>A
|
rs62517195
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.359G>A (p.Trp120Ter)
|
rs199475586
|
|
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.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
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.3G>C (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)
|
rs199475572
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.43_44insAG (p.Leu15fs)
|
rs1592991196
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.441+1G>C
|
rs62517166
|
|
NM_000277.3(PAH):c.441+2T>A
|
rs1876618843
|
|
NM_000277.3(PAH):c.441+2T>G
|
rs1876618843
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.442-1377_509+226del
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.442-1G>C
|
rs62514907
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.442-2A>G
|
|
|
NM_000277.3(PAH):c.442-4403_509+883del
|
|
|
NM_000277.3(PAH):c.443_509+1del
|
rs199475649
|
|
NM_000277.3(PAH):c.450dup (p.Asp151fs)
|
|
|
NM_000277.3(PAH):c.456_463dup (p.Arg155fs)
|
rs2136663420
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
|
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)
|
rs1191473722
|
|
NM_000277.3(PAH):c.463del (p.Arg155fs)
|
rs1875984331
|
|
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.470_471delinsAC (p.Arg157Asn)
|
rs1565853495
|
|
NM_000277.3(PAH):c.472C>G (p.Arg158Gly)
|
|
|
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)
|
rs5030843
|
|
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.47_48dup (p.Asp17fs)
|
|
|
NM_000277.3(PAH):c.47_48insCT (p.Asp17fs)
|
rs1592991184
|
|
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)
|
rs79635844
|
|
NM_000277.3(PAH):c.48dup (p.Asp17Ter)
|
rs1592991176
|
|
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.498C>A (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
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.505C>A (p.Arg169Ser)
|
rs281865440
|
|
NM_000277.3(PAH):c.505C>G (p.Arg169Gly)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.509A>C (p.His170Pro)
|
rs199475573
|
|
NM_000277.3(PAH):c.510-19_667del
|
|
|
NM_000277.3(PAH):c.510-1G>A
|
rs1875377960
|
|
NM_000277.3(PAH):c.510-1G>C
|
|
|
NM_000277.3(PAH):c.510-21_687delinsCCA
|
rs2136649216
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
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.521T>A (p.Ile174Asn)
|
|
|
NM_000277.3(PAH):c.521T>C (p.Ile174Thr)
|
rs138809906
|
|
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.535T>C (p.Tyr179His)
|
rs199475671
|
|
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.551del (p.Lys184fs)
|
rs1875371722
|
|
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.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.563del (p.Gly188fs)
|
rs62507260
|
|
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer)
|
rs2136649605
|
|
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
|
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.584dup (p.Ser196fs)
|
rs1875368328
|
|
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.590T>A (p.Leu197Ter)
|
rs886042078
|
|
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)
|
rs281865442
|
|
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.594T>G (p.Tyr198Ter)
|
|
|
NM_000277.3(PAH):c.598dup (p.Thr200fs)
|
rs62508643
|
|
NM_000277.3(PAH):c.60+2del
|
|
|
NM_000277.3(PAH):c.60+5G>C
|
rs62514895
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.603T>G (p.His201Gln)
|
rs751977644
|
|
NM_000277.3(PAH):c.607dup (p.Cys203fs)
|
rs1875366372
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
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.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
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.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
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.667_674dup (p.Gln226fs)
|
rs2136649263
|
|
NM_000277.3(PAH):c.669del (p.Asn223fs)
|
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)
|
rs62508696
|
|
NM_000277.3(PAH):c.678G>C (p.Gln226His)
|
rs62508615
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.682G>T (p.Glu228Ter)
|
rs281865444
|
|
NM_000277.3(PAH):c.686dup (p.Asp229fs)
|
rs1565848110
|
|
NM_000277.3(PAH):c.690_691insG (p.Ser231fs)
|
rs1875354018
|
|
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.697T>A (p.Phe233Ile)
|
rs1565848061
|
|
NM_000277.3(PAH):c.699C>A (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.699C>G (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.703C>T (p.Gln235Ter)
|
rs1237792711
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
NM_000277.3(PAH):c.707-1G>A
|
rs62507269
|
|
NM_000277.3(PAH):c.707-1G>C
|
rs62507269
|
|
NM_000277.3(PAH):c.707-2A>G
|
rs62514938
|
|
NM_000277.3(PAH):c.707-2A>T
|
|
|
NM_000277.3(PAH):c.707-2del
|
rs1592953143
|
|
NM_000277.3(PAH):c.713C>T (p.Thr238Ile)
|
|
|
NM_000277.3(PAH):c.716G>A (p.Gly239Asp)
|
rs62507283
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
|
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.722_735delinsCCTCCGACCTGTA (p.Arg241fs)
|
rs2136646367
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
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.733_735delinsCTA (p.Val245Leu)
|
|
|
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.740del (p.Gly247fs)
|
rs2136646337
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.753_754del (p.Arg252fs)
|
rs2136646297
|
|
NM_000277.3(PAH):c.753del (p.Arg252fs)
|
rs2136646301
|
|
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.755G>C (p.Arg252Pro)
|
rs62644503
|
|
NM_000277.3(PAH):c.75del (p.Ile25fs)
|
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
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.782G>T (p.Arg261Leu)
|
rs5030849
|
|
NM_000277.3(PAH):c.788T>C (p.Phe263Ser)
|
rs1565846863
|
|
NM_000277.3(PAH):c.78del (p.Asp27fs)
|
|
|
NM_000277.3(PAH):c.792del (p.Cys265fs)
|
|
|
NM_000277.3(PAH):c.795C>A (p.Cys265Ter)
|
rs1231529155
|
|
NM_000277.3(PAH):c.799C>G (p.Gln267Glu)
|
rs199475676
|
|
NM_000277.3(PAH):c.799C>T (p.Gln267Ter)
|
rs199475676
|
|
NM_000277.3(PAH):c.800A>G (p.Gln267Arg)
|
rs778154939
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.801del (p.Gln267fs)
|
rs1875230062
|
|
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)
|
rs1565846805
|
|
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)
|
rs748337823
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del)
|
|
|
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.811C>A (p.His271Asn)
|
|
|
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.827T>G (p.Met276Arg)
|
rs62508722
|
|
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.837del (p.Glu280fs)
|
rs281865429
|
|
NM_000277.3(PAH):c.837dup (p.Glu280fs)
|
|
|
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
|
|
|
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.842+1G>T
|
rs5030852
|
|
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.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.913-2A>G
|
rs1555203951
|
|
NM_000277.3(PAH):c.916del (p.Ile306fs)
|
rs281865456
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
NM_000277.3(PAH):c.920del (p.Gly307fs)
|
rs2136639687
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
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.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000277.3(PAH):c.935G>T (p.Gly312Val)
|
rs62642915
|
|
NM_000277.3(PAH):c.935del (p.Gly312fs)
|
rs2136639639
|
|
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.957_958insTT (p.Lys320fs)
|
|
|
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+2T>G
|
rs1477313214
|
|
NM_000277.3(PAH):c.969+5G>A
|
rs62508637
|
|
NM_000277.3(PAH):c.971T>A (p.Ile324Asn)
|
|
|
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.976del (p.Trp326fs)
|
rs1874741770
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|