NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
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.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.168+5G>C
|
rs62507288
|
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.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.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.1200-1G>A
|
rs62507322
|
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.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
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.320A>G (p.His107Arg)
|
rs542645236
|
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+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.505C>T (p.Arg169Cys)
|
rs281865440
|
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.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.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.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.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
|
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
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.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+241C>A
|
rs2136636327
|
|
NM_000277.3(PAH):c.1066-13T>G
|
rs1435691439
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
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.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099dup (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1105C>G (p.Leu369Val)
|
rs2136635779
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
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.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.124_126del (p.Lys42del)
|
rs1555209578
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
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.1316-2A>C
|
rs760830761
|
|
NM_000277.3(PAH):c.1334del (p.Cys445fs)
|
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.256del (p.Arg86fs)
|
|
|
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.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
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.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)
|
rs1191473722
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.48dup (p.Asp17Ter)
|
rs1592991176
|
|
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.505C>A (p.Arg169Ser)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
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.512G>C (p.Gly171Ala)
|
rs199475596
|
|
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.544G>A (p.Glu182Lys)
|
rs2136649777
|
|
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.578C>T (p.Thr193Ile)
|
|
|
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.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.618_625del (p.Asn207fs)
|
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
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.641A>G (p.Glu214Gly)
|
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
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.689T>C (p.Val230Ala)
|
rs199475673
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000277.3(PAH):c.693del (p.Gln232fs)
|
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
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>A (p.Tyr24Ter)
|
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
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.754C>G (p.Arg252Gly)
|
rs5030847
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.792del (p.Cys265fs)
|
|
|
NM_000277.3(PAH):c.797C>T (p.Thr266Ile)
|
|
|
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.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.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.929C>G (p.Ser310Cys)
|
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
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.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.973_976del (p.Tyr325fs)
|
|
|
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
|
|
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
|
|
|