ClinVar Miner

List of variants studied for inborn disorder of amino acid and other organic acid metabolism by ClinGen PAH Variant Curation Expert Panel

Included ClinVar conditions (324):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 779
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
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.60+62C>T rs1522296 0.34408
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.509+101A>C rs10860933 0.18689
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_000277.3(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.772C>T (p.Leu258=) rs75065106 0.00272
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.706+17G>T rs62508592 0.00087
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 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.299A>G (p.His100Arg) rs148393887 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
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.1161C>T (p.Tyr387=) rs149595475 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.399T>C (p.Asn133=) rs145692106 0.00019
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
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.60+9C>T rs369454152 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334 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.*144A>G rs375319584 0.00007
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.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
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.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918 0.00004
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.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 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.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.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.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 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.1065+39G>T rs62510582 0.00002
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.442-14C>T rs775806999 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.870T>C (p.His290=) rs751203209 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.1124A>G (p.Gln375Arg) rs1874694173 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.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.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 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.198A>G (p.Glu66=) rs117308669 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.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.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.441T>C (p.Pro147=) rs1386014129 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.499A>T (p.Asn167Tyr) rs1210056131 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.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 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.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.737C>T (p.Ala246Val) rs199475610 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.786C>T (p.Val262=) rs776860902 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.793T>C (p.Cys265Arg) rs62517181 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.848T>A (p.Ile283Asn) rs62508693 0.00001
NM_000277.3(PAH):c.859C>G (p.Leu287Val) rs781096854 0.00001
NM_000277.3(PAH):c.865G>A (p.Gly289Arg) rs199475693 0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 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
NM_000277.3(PAH):c.998T>C (p.Leu333Pro) rs1344368175 0.00001
NM_000277.1(PAH):c.1200-1delG rs63186960
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser) rs62517174
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu) rs886042068
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
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.1016C>T (p.Ser339Phe)
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.1023G>C (p.Lys341Asn)
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
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.1029T>A (p.Tyr343Ter) rs1874735553
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.1038del (p.Leu347fs) rs62516063
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe) rs62516154
NM_000277.3(PAH):c.1043T>C (p.Leu348Pro) rs1874733519
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.1046C>A (p.Ser349Ter) rs62507279
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) rs62517183
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg) rs62508686
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1056del (p.Glu353fs) rs62507350
NM_000277.3(PAH):c.1057del (p.Glu353fs) rs2136636774
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+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.1066-12del rs1874706297
NM_000277.3(PAH):c.1066-13T>G rs1435691439
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.1066-3C>G
NM_000277.3(PAH):c.1066-7C>A rs1242756437
NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp) rs62507320
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.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.1076C>T (p.Ser359Leu) rs5030854
NM_000277.3(PAH):c.1078G>T (p.Glu360Ter) rs2136635903
NM_000277.3(PAH):c.1081A>C (p.Lys361Gln) rs772918939
NM_000277.3(PAH):c.1084C>T (p.Pro362Ser)
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.1096C>G (p.Pro366Ala)
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1099C>G (p.Leu367Val) rs1565842281
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.1100T>G (p.Leu367Arg) rs62508574
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1103A>G (p.Glu368Gly) rs2136635784
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.110T>C (p.Leu37Pro) rs869312996
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.1115C>G (p.Thr372Arg) rs2136635740
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.1118C>A (p.Ala373Asp) rs1874694965
NM_000277.3(PAH):c.111dup (p.Ile38fs) rs199475674
NM_000277.3(PAH):c.1127del (p.Asn376fs) rs62642921
NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp) rs1874693635
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.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.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1154T>C (p.Leu385Pro)
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.1161C>A (p.Tyr387Ter) rs149595475
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1163T>C (p.Val388Ala) rs281865435
NM_000277.3(PAH):c.1163_1164del (p.Val388fs) rs199475629
NM_000277.3(PAH):c.1166C>A (p.Ala389Glu) rs1874688379
NM_000277.3(PAH):c.1166C>G (p.Ala389Gly) rs1874688379
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.1175T>C (p.Phe392Ser) rs199475695
NM_000277.3(PAH):c.1176dup (p.Asn393Ter)
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.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>C (p.Lys398Asn) rs199475638
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.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.1199+1G>T
NM_000277.3(PAH):c.1199+2T>G rs62508737
NM_000277.3(PAH):c.1199+4A>G rs1471682834
NM_000277.3(PAH):c.1199+50G>A rs369574052
NM_000277.3(PAH):c.1199+5G>T rs62508674
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.1200-3T>G rs1874550090
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1204T>A (p.Phe402Ile) rs62508725
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu) rs62508725
NM_000277.3(PAH):c.1204T>G (p.Phe402Val) rs62508725
NM_000277.3(PAH):c.1205T>G (p.Phe402Cys) rs1399587250
NM_000277.3(PAH):c.1215_1219del (p.Ile406fs) rs1874547168
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr) rs62644469
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.1228T>A (p.Phe410Ile) rs1874543567
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.1232C>G (p.Ser411Ter)
NM_000277.3(PAH):c.1235T>G (p.Val412Gly) rs1874542925
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser) rs62644467
NM_000277.3(PAH):c.1237C>G (p.Arg413Gly) rs62644467
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
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.1246C>A (p.Pro416Thr) rs1874541064
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.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.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys) rs199475621
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter) rs199475670
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) rs199475670
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
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.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.1312A>G (p.Asn438Asp) rs1874535103
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+5G>C rs1874533541
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1316-1G>A rs1592944816
NM_000277.3(PAH):c.1316-1G>C
NM_000277.3(PAH):c.1316-2A>C rs760830761
NM_000277.3(PAH):c.1318G>T (p.Glu440Ter) rs1874485021
NM_000277.3(PAH):c.134T>C (p.Val45Ala) rs1592988883
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.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.163_165del (p.Phe55del) rs199475631
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+1G>T rs62514898
NM_000277.3(PAH):c.168+2T>C rs1025860114
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.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.169-1G>A rs1877439517
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.169_171del rs199475665
NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer) rs1592979013
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.184C>G (p.Leu62Val) rs1565866640
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.185T>C (p.Leu62Pro) rs1877437661
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.189_190dup (p.His64fs) rs672601294
NM_000277.3(PAH):c.190C>A (p.His64Asn) rs199475569
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.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.197_204del (p.Glu66fs) rs2136702049
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.206dup (p.Ser70fs) rs1592978901
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.209C>T (p.Ser70Phe) rs1877434368
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.229T>C (p.Tyr77His)
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.232G>C (p.Glu78Gln) rs62507326
NM_000277.3(PAH):c.233A>T (p.Glu78Val) rs1877431301
NM_000277.3(PAH):c.241_256del (p.Thr81fs) rs63749677
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.253A>T (p.Lys85Ter) rs1877430029
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.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.285C>T (p.Ile95=) rs1877427309
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.2T>G (p.Met1Arg) rs62508575
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.30dup (p.Arg13fs) rs1592991220
NM_000277.3(PAH):c.311C>T (p.Ala104Val)
NM_000277.3(PAH):c.317T>C (p.Val106Ala)
NM_000277.3(PAH):c.324_328del (p.Glu108fs) rs1877424058
NM_000277.3(PAH):c.329C>T (p.Ser110Leu) rs199475627
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.353-2059_353-1160del rs2136680756
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.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.359G>A (p.Trp120Ter) rs199475586
NM_000277.3(PAH):c.361T>G (p.Phe121Val) rs1876627337
NM_000277.3(PAH):c.362T>C (p.Phe121Ser) rs1565859485
NM_000277.3(PAH):c.364C>T (p.Pro122Ser) rs1466564208
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.380A>G (p.Glu127Gly) rs1876625601
NM_000277.3(PAH):c.386A>T (p.Asp129Val) rs199475623
NM_000277.3(PAH):c.395C>T (p.Ala132Val)
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.411C>T (p.Ser137=) rs1801146
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+5G>A rs62507321
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.441+6T>C 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.442G>C (p.Gly148Arg) rs80297647
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.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.453T>A (p.Asp151Glu)
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.456_463dup (p.Arg155fs) rs2136663420
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.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.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.46T>C (p.Ser16Pro) rs62642946
NM_000277.3(PAH):c.470G>C (p.Arg157Thr) rs199475611
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
NM_000277.3(PAH):c.479A>C (p.Gln160Pro) rs199475601
NM_000277.3(PAH):c.47C>A (p.Ser16Tyr) rs1592991188
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.48dup (p.Asp17Ter) rs1592991176
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.498C>A (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.498C>G (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.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>C (p.Arg169Pro) rs199475679
NM_000277.3(PAH):c.509+1G>A rs63102461
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.510-2A>G rs1555204750
NM_000277.3(PAH):c.510-6T>G rs62507281
NM_000277.3(PAH):c.510-735_912+434del
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.521T>C (p.Ile174Thr) rs138809906
NM_000277.3(PAH):c.523C>G (p.Pro175Ala) rs199475604
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.533A>T (p.Glu178Val) rs77958223
NM_000277.3(PAH):c.535T>C (p.Tyr179His) rs199475671
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.548A>G (p.Glu183Gly)
NM_000277.3(PAH):c.551del (p.Lys184fs) rs1875371722
NM_000277.3(PAH):c.552G>T (p.Lys184Asn)
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.560G>A (p.Trp187Ter)
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.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.584dup (p.Ser196fs) rs1875368328
NM_000277.3(PAH):c.586T>A (p.Ser196Thr)
NM_000277.3(PAH):c.586_608del (p.Ser196fs) rs62895363
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) rs865899394
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.599C>A (p.Thr200Asn) rs2136649547
NM_000277.3(PAH):c.59A>C (p.Gln20Pro) rs199475662
NM_000277.3(PAH):c.60+4A>T rs1592991145
NM_000277.3(PAH):c.60+5G>C rs62514895
NM_000277.3(PAH):c.60+5_60+6del rs1592991131
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.604G>A (p.Ala202Thr)
NM_000277.3(PAH):c.605C>T (p.Ala202Val) rs2136649533
NM_000277.3(PAH):c.607T>G (p.Cys203Gly)
NM_000277.3(PAH):c.607dup (p.Cys203fs) rs1875366372
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.61-3T>C rs1878260066
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.617A>G (p.Tyr206Cys) rs62508728
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.632del (p.Pro211fs) rs62514929
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.648C>G (p.Tyr216Ter) rs62509013
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.656T>C (p.Phe219Ser) rs1164279708
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.667A>T (p.Asn223Tyr) rs2136649290
NM_000277.3(PAH):c.667_674dup (p.Gln226fs) rs2136649263
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.669del (p.Asn223fs)
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.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.682G>T (p.Glu228Ter) rs281865444
NM_000277.3(PAH):c.684A>C (p.Glu228Asp) rs2136649225
NM_000277.3(PAH):c.686A>G (p.Asp229Gly)
NM_000277.3(PAH):c.686dup (p.Asp229fs) rs1565848110
NM_000277.3(PAH):c.689T>C (p.Val230Ala) rs199475673
NM_000277.3(PAH):c.689T>G (p.Val230Gly) rs199475673
NM_000277.3(PAH):c.690_691insG (p.Ser231fs) rs1875354018
NM_000277.3(PAH):c.694C>G (p.Gln232Glu) rs62507348
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.704A>C (p.Gln235Pro) rs199475656
NM_000277.3(PAH):c.706+5G>A rs1331362460
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.707-2del rs1592953143
NM_000277.3(PAH):c.712A>G (p.Thr238Ala) rs199475577
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.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.730C>T (p.Pro244Ser) rs2136646392
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.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.740del (p.Gly247fs) rs2136646337
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.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.746T>A (p.Leu249His) rs62507338
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.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.75del (p.Ile25fs)
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.781C>G (p.Arg261Gly) rs5030850
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.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.788T>C (p.Phe263Ser) rs1565846863
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.795C>A (p.Cys265Ter) rs1231529155
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
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.801G>C (p.Gln267His) rs199475675
NM_000277.3(PAH):c.802T>C (p.Tyr268His) rs62507263
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.810_814del (p.His271fs) rs62507286
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.817T>C (p.Ser273Pro) rs1565846754
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>G (p.Thr278Ser) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.835_836delinsTG (p.Pro279Cys) rs2136646020
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
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.842+4A>G rs1555204434
NM_000277.3(PAH):c.842+4A>T rs1555204434
NM_000277.3(PAH):c.842+6T>A rs1592952773
NM_000277.3(PAH):c.843-13_843-10del rs2136645010
NM_000277.3(PAH):c.843-1G>A rs1373264140
NM_000277.3(PAH):c.843-2A>T rs62509019
NM_000277.3(PAH):c.843-5T>C rs1875163630
NM_000277.3(PAH):c.843-6T>C rs2136645004
NM_000277.3(PAH):c.843T>A (p.Pro281=)
NM_000277.3(PAH):c.847A>G (p.Ile283Val) rs62517168
NM_000277.3(PAH):c.850T>C (p.Cys284Arg) rs199475682
NM_000277.3(PAH):c.853C>T (p.His285Tyr) rs199475636
NM_000277.3(PAH):c.856G>A (p.Glu286Lys) rs62508739
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.865G>C (p.Gly289Arg) rs199475693
NM_000277.3(PAH):c.868C>T (p.His290Tyr) rs1486763160
NM_000277.3(PAH):c.869A>G (p.His290Arg) rs62642919
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.871G>T (p.Val291Leu) rs1875160008
NM_000277.3(PAH):c.884C>G (p.Ser295Ter) rs62642910
NM_000277.3(PAH):c.886G>C (p.Asp296His) rs765934604
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.890G>T (p.Arg297Leu) rs62642939
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.896T>C (p.Phe299Ser) rs62642933
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.901C>T (p.Gln301Ter) rs1057520732
NM_000277.3(PAH):c.902A>C (p.Gln301Pro) rs1592952183
NM_000277.3(PAH):c.903G>T (p.Gln301His) rs1592952179
NM_000277.3(PAH):c.907T>C (p.Ser303Pro) rs199475608
NM_000277.3(PAH):c.907T>G (p.Ser303Ala) rs199475608
NM_000277.3(PAH):c.907del (p.Ser303fs) rs62642920
NM_000277.3(PAH):c.910C>A (p.Gln304Lys) rs1555204295
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.911A>G (p.Gln304Arg) rs199475592
NM_000277.3(PAH):c.912+16T>A rs1875152576
NM_000277.3(PAH):c.912+1G>C rs62514956
NM_000277.3(PAH):c.912+1G>T rs62514956
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-2A>G 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.920del (p.Gly307fs) rs2136639687
NM_000277.3(PAH):c.922C>G (p.Leu308Val) rs62642095
NM_000277.3(PAH):c.925G>A (p.Ala309Thr) rs1205657950
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>C (p.Gly312Arg) rs763115697
NM_000277.3(PAH):c.935G>A (p.Gly312Asp) rs62642915
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.949T>C (p.Tyr317His) rs1874872863
NM_000277.3(PAH):c.968C>T (p.Thr323Ile) rs1874870478
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.969+4A>T rs2136639453
NM_000277.3(PAH):c.969+5G>A rs62508637
NM_000277.3(PAH):c.969+6T>C rs62517196
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
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.970-6T>G rs62507274
NM_000277.3(PAH):c.970-7A>G rs745670264
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.977G>C (p.Trp326Ser) rs62514959
NM_000277.3(PAH):c.981T>G (p.Phe327Leu) rs199475642
NM_000277.3(PAH):c.983C>A (p.Thr328Asn) rs886042096
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
NM_001354304.2(PAH):c.-95-4071_-95-313del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.