NM_000277.3(PAH):c.60+62C>T
|
rs1522296
|
0.34408
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
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.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
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.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
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.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.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.157C>T (p.Arg53Cys)
|
rs199475619
|
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.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
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.1136T>C (p.Val379Ala)
|
rs746203167
|
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.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.842+5G>A
|
rs62516146
|
0.00002
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)
|
rs62516098
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
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.1200G>T (p.Arg400Ser)
|
rs1874549626
|
0.00001
|
NM_000277.3(PAH):c.1216A>G (p.Ile406Val)
|
rs749613899
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.1316-2A>G
|
rs760830761
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
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.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.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)
|
rs374999809
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.435C>A (p.Asp145Glu)
|
rs1375045653
|
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.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.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
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.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
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.828G>A (p.Met276Ile)
|
rs62514954
|
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.970-1G>A
|
rs202183605
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000277.3(PAH):c.998T>C (p.Leu333Pro)
|
rs1344368175
|
0.00001
|
NC_000012.11:g.(?_103260354)_(103260461_?)dup
|
|
|
NM_000277.1:c.[722delG;c.735G>A]
|
|
|
NM_000277.2(PAH):c.1200-1delG
|
rs63186960
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)
|
rs281865431
|
|
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
|
|
|
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)
|
rs281865434
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
NM_000277.3(PAH):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000277.3(PAH):c.1023G>C (p.Lys341Asn)
|
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu)
|
rs796064501
|
|
NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn)
|
rs62508651
|
|
NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)
|
rs62508651
|
|
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)
|
rs62508679
|
|
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.1043T>C (p.Leu348Pro)
|
rs1874733519
|
|
NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)
|
rs62516157
|
|
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)
|
rs62507279
|
|
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)
|
rs62517183
|
|
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
|
|
|
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.1057del (p.Glu353fs)
|
rs2136636774
|
|
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.1065+3A>G
|
rs62508689
|
|
NM_000277.3(PAH):c.1066-10_1070del
|
rs1592947582
|
|
NM_000277.3(PAH):c.1066-13T>G
|
rs1435691439
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1066-2A>T
|
rs281865447
|
|
NM_000277.3(PAH):c.1066-7C>A
|
rs1242756437
|
|
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)
|
rs62508595
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1076C>T (p.Ser359Leu)
|
rs5030854
|
|
NM_000277.3(PAH):c.1081A>C (p.Lys361Gln)
|
rs772918939
|
|
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
|
|
|
NM_000277.3(PAH):c.1084C>T (p.Pro362Ser)
|
|
|
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)
|
rs1592947563
|
|
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
|
|
|
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.1096C>T (p.Pro366Ser)
|
rs2136635839
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
NM_000277.3(PAH):c.1105C>G (p.Leu369Val)
|
rs2136635779
|
|
NM_000277.3(PAH):c.1108del (p.Glu370fs)
|
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.110T>C (p.Leu37Pro)
|
rs869312996
|
|
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
|
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1115C>G (p.Thr372Arg)
|
rs2136635740
|
|
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)
|
rs62508717
|
|
NM_000277.3(PAH):c.1118C>A (p.Ala373Asp)
|
rs1874694965
|
|
NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)
|
rs1874693635
|
|
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)
|
rs62642942
|
|
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.1146C>G (p.Phe382Leu)
|
rs1874691554
|
|
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1154T>C (p.Leu385Pro)
|
|
|
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.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1159T>G (p.Tyr387Asp)
|
rs62517194
|
|
NM_000277.3(PAH):c.1163T>C (p.Val388Ala)
|
rs281865435
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)
|
rs281865453
|
|
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)
|
rs1429055740
|
|
NM_000277.3(PAH):c.1172G>C (p.Ser391Thr)
|
rs869312997
|
|
NM_000277.3(PAH):c.1177_1178insT (p.Asn393fs)
|
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr)
|
rs62516142
|
|
NM_000277.3(PAH):c.1180del (p.Asp394fs)
|
rs1555203666
|
|
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.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
NM_000277.3(PAH):c.1196T>C (p.Val399Ala)
|
rs281865436
|
|
NM_000277.3(PAH):c.1196_1199del (p.Val399fs)
|
rs199475603
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+2T>G
|
rs62508737
|
|
NM_000277.3(PAH):c.1199+4A>G
|
rs1471682834
|
|
NM_000277.3(PAH):c.1199+5G>T
|
rs62508674
|
|
NM_000277.3(PAH):c.1200-3T>G
|
rs1874550090
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1209del (p.Ala404fs)
|
rs1555203401
|
|
NM_000277.3(PAH):c.120_121del (p.Leu41fs)
|
|
|
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.1220C>T (p.Pro407Leu)
|
rs62644473
|
|
NM_000277.3(PAH):c.1228T>A (p.Phe410Ile)
|
rs1874543567
|
|
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)
|
rs62644475
|
|
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)
|
rs62644477
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.1249T>G (p.Tyr417Asp)
|
rs62644471
|
|
NM_000277.3(PAH):c.124_126del (p.Lys42del)
|
rs1555209578
|
|
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)
|
rs1371700813
|
|
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)
|
rs1874539947
|
|
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)
|
rs767075719
|
|
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.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)
|
rs1555209575
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.1282del (p.Gln428fs)
|
rs2136631967
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)
|
rs199475607
|
|
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs)
|
rs1555203363
|
|
NM_000277.3(PAH):c.1298dup (p.Leu433fs)
|
rs1057516377
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1301C>T (p.Ala434Val)
|
rs199475659
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1306del (p.Ser436fs)
|
rs1874535712
|
|
NM_000277.3(PAH):c.1314_1315+4del
|
rs1334974448
|
|
NM_000277.3(PAH):c.1315+1G>T
|
rs5030861
|
|
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>C
|
|
|
NM_000277.3(PAH):c.1318G>T (p.Glu440Ter)
|
rs1874485021
|
|
NM_000277.3(PAH):c.1334del (p.Cys445fs)
|
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.136G>C (p.Gly46Arg)
|
rs74603784
|
|
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
|
|
|
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.163_165del (p.Phe55del)
|
rs199475631
|
|
NM_000277.3(PAH):c.164T>C (p.Phe55Ser)
|
rs281865438
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+1G>T
|
rs62514898
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)
|
rs140945592
|
|
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.185T>C (p.Leu62Pro)
|
rs1877437661
|
|
NM_000277.3(PAH):c.194T>A (p.Ile65Asn)
|
rs75193786
|
|
NM_000277.3(PAH):c.196G>A (p.Glu66Lys)
|
rs281865454
|
|
NM_000277.3(PAH):c.196G>T (p.Glu66Ter)
|
rs281865454
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
|
|
|
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.209C>T (p.Ser70Phe)
|
rs1877434368
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
NM_000277.3(PAH):c.212G>C (p.Arg71Pro)
|
rs62508695
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
NM_000277.3(PAH):c.224A>G (p.Asp75Gly)
|
rs1565866547
|
|
NM_000277.3(PAH):c.224A>T (p.Asp75Val)
|
rs1565866547
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)
|
rs62507326
|
|
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)
|
rs796064502
|
|
NM_000277.3(PAH):c.256del (p.Arg86fs)
|
|
|
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
|
|
|
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.292T>G (p.Leu98Val)
|
rs1592978725
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
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.311C>T (p.Ala104Val)
|
|
|
NM_000277.3(PAH):c.320A>C (p.His107Pro)
|
rs542645236
|
|
NM_000277.3(PAH):c.329C>T (p.Ser110Leu)
|
rs199475627
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
|
|
|
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
|
|
|
NM_000277.3(PAH):c.350del (p.Thr117fs)
|
rs281865428
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.352+2dup
|
rs1057516604
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)
|
rs1466564208
|
|
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs)
|
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
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.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.440del (p.Pro147fs)
|
|
|
NM_000277.3(PAH):c.441+1G>C
|
rs62517166
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.443G>A (p.Gly148Asp)
|
rs1555205655
|
|
NM_000277.3(PAH):c.443G>T (p.Gly148Val)
|
rs1555205655
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
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>A (p.Tyr154Ter)
|
rs1191473722
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
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.467del (p.Ala156fs)
|
|
|
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)
|
rs199475611
|
|
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.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.494C>A (p.Ala165Asp)
|
rs1592961381
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
NM_000277.3(PAH):c.506G>C (p.Arg169Pro)
|
rs199475679
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
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.515A>G (p.Gln172Arg)
|
|
|
NM_000277.3(PAH):c.516G>C (p.Gln172His)
|
rs192592111
|
|
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)
|
rs199475604
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
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.535_536del (p.Tyr179fs)
|
|
|
NM_000277.3(PAH):c.540GGA[1] (p.Glu183del)
|
rs1875372846
|
|
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu)
|
rs281865433
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
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.563G>T (p.Gly188Val)
|
rs199475689
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
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.60+1G>C
|
rs1555209932
|
|
NM_000277.3(PAH):c.60+4A>T
|
rs1592991145
|
|
NM_000277.3(PAH):c.60+5G>A
|
rs62514895
|
|
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.604G>A (p.Ala202Thr)
|
|
|
NM_000277.3(PAH):c.605C>T (p.Ala202Val)
|
rs2136649533
|
|
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.610dup (p.Tyr204fs)
|
rs1555204711
|
|
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.617A>G (p.Tyr206Cys)
|
rs62508728
|
|
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.618_625del (p.Asn207fs)
|
|
|
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.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.640G>T (p.Glu214Ter)
|
|
|
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
|
|
|
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>T (p.Cys217Phe)
|
|
|
NM_000277.3(PAH):c.659A>C (p.His220Pro)
|
rs1592954413
|
|
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.668A>T (p.Asn223Ile)
|
rs201245932
|
|
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
|
|
|
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
|
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.673C>G (p.Pro225Ala)
|
rs199475589
|
|
NM_000277.3(PAH):c.674C>T (p.Pro225Leu)
|
rs62517204
|
|
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)
|
rs62508696
|
|
NM_000277.3(PAH):c.676C>T (p.Gln226Ter)
|
rs62508696
|
|
NM_000277.3(PAH):c.676del (p.Gln226fs)
|
|
|
NM_000277.3(PAH):c.679C>G (p.Leu227Val)
|
rs2136649242
|
|
NM_000277.3(PAH):c.680T>A (p.Leu227Gln)
|
rs2136649239
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.689T>C (p.Val230Ala)
|
rs199475673
|
|
NM_000277.3(PAH):c.693_694del (p.Gln232fs)
|
|
|
NM_000277.3(PAH):c.693del (p.Gln232fs)
|
|
|
NM_000277.3(PAH):c.694C>G (p.Gln232Glu)
|
rs62507348
|
|
NM_000277.3(PAH):c.706+368T>C
|
rs2136648640
|
|
NM_000277.3(PAH):c.706+531T>C
|
|
|
NM_000277.3(PAH):c.706+608A>C
|
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
NM_000277.3(PAH):c.712A>G (p.Thr238Ala)
|
rs199475577
|
|
NM_000277.3(PAH):c.716G>C (p.Gly239Ala)
|
rs62507283
|
|
NM_000277.3(PAH):c.719T>C (p.Phe240Ser)
|
rs62508594
|
|
NM_000277.3(PAH):c.721C>A (p.Arg241Ser)
|
rs76687508
|
|
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.72T>A (p.Tyr24Ter)
|
|
|
NM_000277.3(PAH):c.730C>T (p.Pro244Ser)
|
rs2136646392
|
|
NM_000277.3(PAH):c.731C>T (p.Pro244Leu)
|
rs118203923
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
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.745del (p.Leu249fs)
|
rs1057516914
|
|
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.755G>C (p.Arg252Pro)
|
rs62644503
|
|
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.773T>C (p.Leu258Pro)
|
rs1565846899
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
|
|
|
NM_000277.3(PAH):c.781C>G (p.Arg261Gly)
|
rs5030850
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.785T>G (p.Val262Gly)
|
rs281865445
|
|
NM_000277.3(PAH):c.789C>A (p.Phe263Leu)
|
rs62642944
|
|
NM_000277.3(PAH):c.790del (p.His264fs)
|
rs1057517009
|
|
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)
|
rs62507335
|
|
NM_000277.3(PAH):c.796A>C (p.Thr266Pro)
|
rs62508752
|
|
NM_000277.3(PAH):c.797C>T (p.Thr266Ile)
|
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.801G>C (p.Gln267His)
|
rs199475675
|
|
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.806T>A (p.Ile269Asn)
|
rs199475644
|
|
NM_000277.3(PAH):c.812A>G (p.His271Arg)
|
rs199475692
|
|
NM_000277.3(PAH):c.812A>T (p.His271Leu)
|
rs199475692
|
|
NM_000277.3(PAH):c.813T>G (p.His271Gln)
|
rs1565846764
|
|
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.830_831insC (p.Thr278fs)
|
rs2136646052
|
|
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>G (p.Thr278Ser)
|
rs62507262
|
|
NM_000277.3(PAH):c.835_836delinsTG (p.Pro279Cys)
|
rs2136646020
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.837del (p.Glu280fs)
|
rs281865429
|
|
NM_000277.3(PAH):c.838G>C (p.Glu280Gln)
|
rs62508698
|
|
NM_000277.3(PAH):c.841C>G (p.Pro281Ala)
|
rs199475654
|
|
NM_000277.3(PAH):c.841C>T (p.Pro281Ser)
|
rs199475654
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.913-3C>G
|
rs281865451
|
|
NM_000277.3(PAH):c.913-8A>G
|
rs281865452
|
|
NM_000277.3(PAH):c.914_1199+1del
|
|
|
NM_000277.3(PAH):c.916del (p.Ile306fs)
|
rs281865456
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
|
|
|
NM_000277.3(PAH):c.925G>A (p.Ala309Thr)
|
rs1205657950
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.929C>G (p.Ser310Cys)
|
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000277.3(PAH):c.934G>T (p.Gly312Cys)
|
rs763115697
|
|
NM_000277.3(PAH):c.935G>A (p.Gly312Asp)
|
rs62642915
|
|
NM_000277.3(PAH):c.938C>A (p.Ala313Glu)
|
rs62642914
|
|
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)
|
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
NM_000277.3(PAH):c.970-1G>C
|
rs202183605
|
|
NM_000277.3(PAH):c.970-1G>T
|
rs202183605
|
|
NM_000277.3(PAH):c.970-2A>C
|
rs62517199
|
|
NM_000277.3(PAH):c.970-2A>G
|
rs62517199
|
|
NM_000277.3(PAH):c.973_976del (p.Tyr325fs)
|
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
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.994G>A (p.Gly332Arg)
|
|
|
NM_001354304.2(PAH):c.-95-4071_-95-313del
|
|
|