NM_000277.3(PAH):c.510-217C>T
|
rs2251897
|
0.88934
|
NM_000277.3(PAH):c.1200-186T>C
|
rs798709
|
0.88875
|
NM_000277.3(PAH):c.510-303C>T
|
rs2251894
|
0.65652
|
NM_000277.3(PAH):c.442-193A>G
|
rs2133298
|
0.41717
|
NM_000277.3(PAH):c.442-167A>G
|
rs2247836
|
0.38795
|
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.1066-236C>T
|
rs772896
|
0.36069
|
NM_000277.3(PAH):c.60+134A>G
|
rs1522295
|
0.34771
|
NM_000277.3(PAH):c.60+62C>T
|
rs1522296
|
0.34408
|
NM_000277.3(PAH):c.*187G>A
|
rs1801153
|
0.32335
|
NM_000277.3(PAH):c.510-54G>A
|
rs2251905
|
0.32128
|
NM_000277.3(PAH):c.1200-251C>T
|
rs2245360
|
0.30400
|
NM_000277.3(PAH):c.61-345T>C
|
rs1498688
|
0.24218
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_000277.3(PAH):c.970-195G>A
|
rs1072528
|
0.21740
|
NM_000277.3(PAH):c.969+221T>G
|
rs2270729
|
0.21739
|
NM_000277.3(PAH):c.1066-193G>C
|
rs10860928
|
0.21722
|
NM_000277.3(PAH):c.1065+205A>T
|
rs10860929
|
0.21721
|
NM_000277.3(PAH):c.1065+156T>G
|
rs10860930
|
0.21631
|
NM_000277.3(PAH):c.1065+155T>C
|
rs10860931
|
0.21630
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_000277.3(PAH):c.1199+264G>A
|
rs2242381
|
0.19800
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_000277.3(PAH):c.509+101A>C
|
rs10860933
|
0.18689
|
NM_000277.3(PAH):c.-71A>C
|
rs2280615
|
0.14554
|
NM_001354304.2(PAH):c.-95-669G>C
|
rs34674687
|
0.10808
|
NM_000277.3(PAH):c.1315+163del
|
rs142522265
|
0.04817
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
NM_000277.3(PAH):c.706+56G>A
|
rs76887545
|
0.02871
|
NM_000277.3(PAH):c.842+201G>T
|
rs78795840
|
0.02871
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000277.3(PAH):c.-81C>T
|
rs7954004
|
0.02852
|
NM_000277.2(PAH):c.-147C>T
|
rs62517177
|
0.02849
|
NM_000277.2(PAH):c.-223G>A
|
rs74820934
|
0.02848
|
NM_000277.2(PAH):c.-316T>C
|
rs35465699
|
0.02810
|
NM_000277.3(PAH):c.1315+69G>A
|
rs77181841
|
0.02382
|
NM_000277.3(PAH):c.353-138G>A
|
rs7964033
|
0.01923
|
NM_000277.3(PAH):c.510-254C>T
|
rs115410641
|
0.01766
|
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.60+299C>G
|
rs75094967
|
0.01299
|
NM_000277.3(PAH):c.168+267A>T
|
rs113190378
|
0.01283
|
NM_001354304.2(PAH):c.-95-532G>A
|
rs77411738
|
0.01268
|
NM_000277.3(PAH):c.509+140G>A
|
rs112222839
|
0.01009
|
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)
|
rs1801152
|
0.00779
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000277.3(PAH):c.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.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
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.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.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.837C>T (p.Pro279=)
|
rs138355741
|
0.00008
|
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.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.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
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.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
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.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.581T>C (p.Leu194Pro)
|
rs5030844
|
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.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1101G>A (p.Leu367=)
|
rs62508648
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
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.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
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.611A>G (p.Tyr204Cys)
|
rs62514927
|
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.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.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.1:c.169_171del
|
|
|
NM_000277.2(PAH):c.-460delG
|
rs113191080
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)
|
rs62508628
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1162G>C (p.Val388Leu)
|
rs62516101
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1249T>C (p.Tyr417His)
|
rs62644471
|
|
NM_000277.3(PAH):c.1316-5T>C
|
rs62509020
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.169-3T>G
|
rs1877439666
|
|
NM_000277.3(PAH):c.187A>C (p.Thr63Pro)
|
rs199475568
|
|
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn)
|
rs1877437047
|
|
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.352+164T>A
|
rs78243047
|
|
NM_000277.3(PAH):c.352+294dup
|
rs3062651
|
|
NM_000277.3(PAH):c.352+305del
|
rs3062651
|
|
NM_000277.3(PAH):c.353-172G>A
|
rs74392296
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
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.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
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.547G>C (p.Glu183Gln)
|
rs199475664
|
|
NM_000277.3(PAH):c.566C>G (p.Thr189Arg)
|
rs1555204728
|
|
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
|
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.60+62C>G
|
rs1522296
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
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.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
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.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.734_735inv (p.Val245Ala)
|
|
|
NM_000277.3(PAH):c.737C>A (p.Ala246Asp)
|
rs199475610
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.757G>A (p.Asp253Asn)
|
rs765533320
|
|
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.822_832del (p.Lys274fs)
|
rs199475581
|
|
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
|
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_001354304.2(PAH):c.-95-385_-95-382del
|
rs147576673
|
|