ClinVar Miner

List of variants in gene PAH

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1568
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.510-217C>T rs2251897 0.88924
NM_000277.3(PAH):c.1200-186T>C rs798709 0.88885
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_000277.3(PAH):c.510-303C>T rs2251894 0.65652
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_000277.3(PAH):c.442-193A>G rs2133298 0.41153
NM_000277.3(PAH):c.442-167A>G rs2247836 0.38431
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.696= (p.Gln232=) rs1126758 0.36084
NM_000277.3(PAH):c.1066-236C>T rs772896 0.36069
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34450
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.*187G>A rs1801153 0.31301
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 0.22974
NM_000277.3(PAH):c.1065+205A>T rs10860929 0.22962
NM_000277.3(PAH):c.1065+97G>A rs12580432 0.21736
NM_000277.3(PAH):c.1065+155T>C rs10860931 0.21630
NM_000277.3(PAH):c.969+221T>G rs2270729 0.21403
NM_000277.3(PAH):c.1066-193G>C rs10860928 0.21396
NM_000277.3(PAH):c.1065+156T>G rs10860930 0.21312
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.1155= (p.Leu385=) rs772897 0.15047
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_001354304.2(PAH):c.-95-669G>C rs34674687 0.10811
NM_000277.3(PAH):c.1315+163del rs142522265 0.04817
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04124
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.-223G>A rs74820934 0.02848
NM_000277.2(PAH):c.-147C>T rs62517177 0.02757
NM_000277.2(PAH):c.-316T>C rs35465699 0.02613
NM_000277.3(PAH):c.1315+69G>A rs77181841 0.02228
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 0.01317
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.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_000277.3(PAH):c.1315+20C>T rs190655222 0.00250
NM_000277.3(PAH):c.*650A>G rs180991851 0.00247
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00204
NM_000277.3(PAH):c.*19G>T rs372637021 0.00126
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.*699C>T rs189466448 0.00078
NM_000277.3(PAH):c.*735T>C rs185081299 0.00078
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00068
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00056
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00053
NM_000277.3(PAH):c.330A>G (p.Ser110=) rs573940903 0.00052
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00040
NM_000277.3(PAH):c.707-59C>G rs146137895 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00034
NM_000277.3(PAH):c.969+7C>T rs80324017 0.00032
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00031
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_000277.3(PAH):c.-104C>T rs767107144 0.00029
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00026
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00020
NM_000277.3(PAH):c.*272C>T rs928972999 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00019
NM_000277.3(PAH):c.*79G>A rs569495604 0.00016
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00013
NM_000277.3(PAH):c.969+20G>A rs201083544 0.00013
NM_000277.3(PAH):c.509+21G>T rs191700258 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00009
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.681G>A (p.Leu227=) rs182135145 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.1140G>A (p.Thr380=) rs373763334 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00008
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 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.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00007
NM_000277.3(PAH):c.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.352+11G>C rs371926082 0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
NM_000277.3(PAH):c.60+28del rs770397705 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000277.3(PAH):c.1023G>A (p.Lys341=) rs550037937 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000277.3(PAH):c.-66_-65del rs997821067 0.00004
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918 0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206 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.1282C>G (p.Gln428Glu) rs567261857 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.420G>A (p.Ala140=) rs200366386 0.00004
NM_000277.3(PAH):c.441+16G>A rs751195330 0.00004
NM_000277.3(PAH):c.441+7C>A rs775999845 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.588C>T (p.Ser196=) rs755420480 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.1074A>T (p.Leu358Phe) rs376480977 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.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val) rs199475572 0.00003
NM_000277.3(PAH):c.441+15C>T rs187133779 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.74T>C (p.Ile25Thr) rs1355039694 0.00003
NM_000277.3(PAH):c.826A>T (p.Met276Leu) rs62516149 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.925G>T (p.Ala309Ser) rs1205657950 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.1066-4A>G rs757320744 0.00002
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe) rs951540129 0.00002
NM_000277.3(PAH):c.1098C>A (p.Pro366=) rs776159017 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.12G>A (p.Ala4=) rs536605300 0.00002
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.441+9A>G rs756060157 0.00002
NM_000277.3(PAH):c.442-14C>T rs775806999 0.00002
NM_000277.3(PAH):c.513G>T (p.Gly171=) rs143211522 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.61-19A>G rs756892613 0.00002
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109 0.00002
NM_000277.3(PAH):c.642A>G (p.Glu214=) rs373782868 0.00002
NM_000277.3(PAH):c.752C>T (p.Ser251Phe) rs369646949 0.00002
NM_000277.3(PAH):c.804C>T (p.Tyr268=) rs748337823 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.913-5T>C rs62507264 0.00002
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00002
NM_000277.3(PAH):c.*42A>G rs1238562736 0.00001
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150 0.00001
NM_000277.3(PAH):c.1026A>G (p.Ala342=) rs766756246 0.00001
NM_000277.3(PAH):c.1032T>C (p.Gly344=) rs758646909 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1041C>T (p.Leu347=) rs1233192488 0.00001
NM_000277.3(PAH):c.1059A>G (p.Glu353=) rs1403823473 0.00001
NM_000277.3(PAH):c.1066-16C>T rs1054762308 0.00001
NM_000277.3(PAH):c.1066-5T>C rs910131541 0.00001
NM_000277.3(PAH):c.1066-7C>A rs1242756437 0.00001
NM_000277.3(PAH):c.1066-8G>C rs765490451 0.00001
NM_000277.3(PAH):c.1066-9G>A rs750730715 0.00001
NM_000277.3(PAH):c.1080G>A (p.Glu360=) rs1160769144 0.00001
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter) rs772918939 0.00001
NM_000277.3(PAH):c.1095C>G (p.Leu365=) rs747661840 0.00001
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser) rs2136635839 0.00001
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu) rs62516098 0.00001
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648 0.00001
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508 0.00001
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.1136T>C (p.Val379Ala) rs746203167 0.00001
NM_000277.3(PAH):c.1143G>A (p.Glu381=) rs2136635626 0.00001
NM_000277.3(PAH):c.1159T>C (p.Tyr387His) rs62517194 0.00001
NM_000277.3(PAH):c.1170G>A (p.Glu390=) rs2136635531 0.00001
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 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.1185C>A (p.Ala395=) rs760256025 0.00001
NM_000277.3(PAH):c.1188G>A (p.Lys396=) rs772683682 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199+70G>A rs281865457 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.1210G>T (p.Ala404Ser) rs886043085 0.00001
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899 0.00001
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437 0.00001
NM_000277.3(PAH):c.1245C>T (p.Asp415=) rs1482820632 0.00001
NM_000277.3(PAH):c.1251C>T (p.Tyr417=) rs1272159852 0.00001
NM_000277.3(PAH):c.1254C>T (p.Thr418=) rs755787172 0.00001
NM_000277.3(PAH):c.1258A>G (p.Arg420Gly) rs1162831467 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.1270T>C (p.Leu424=) rs148041893 0.00001
NM_000277.3(PAH):c.1273G>A (p.Asp425Asn) rs1439603624 0.00001
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157 0.00001
NM_000277.3(PAH):c.1299G>A (p.Leu433=) rs770034263 0.00001
NM_000277.3(PAH):c.1315A>G (p.Ser439Gly) rs989098970 0.00001
NM_000277.3(PAH):c.1316-11T>C rs2499609935 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.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.1347G>T (p.Gln449His) rs1258710210 0.00001
NM_000277.3(PAH):c.135T>G (p.Val45=) rs773425620 0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925 0.00001
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) rs199475630 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.168+13A>G rs1423648506 0.00001
NM_000277.3(PAH):c.168+1G>A rs62514898 0.00001
NM_000277.3(PAH):c.169-10T>C rs536596014 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.169-42T>A rs281865459 0.00001
NM_000277.3(PAH):c.169-9C>G rs747810402 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.198A>G (p.Glu66=) rs117308669 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.211C>T (p.Arg71Cys) rs866012140 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.214T>G (p.Leu72Val) rs760782775 0.00001
NM_000277.3(PAH):c.223G>A (p.Asp75Asn) rs767453024 0.00001
NM_000277.3(PAH):c.228G>A (p.Glu76=) rs1203354348 0.00001
NM_000277.3(PAH):c.22A>G (p.Asn8Asp) rs763623193 0.00001
NM_000277.3(PAH):c.231T>C (p.Tyr77=) rs62507332 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.257G>A (p.Arg86His) rs746603180 0.00001
NM_000277.3(PAH):c.275C>T (p.Thr92Ile) rs62514903 0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677 0.00001
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167 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.332G>A (p.Arg111Gln) rs868854935 0.00001
NM_000277.3(PAH):c.352+10A>G rs559561517 0.00001
NM_000277.3(PAH):c.353-14T>C rs1876629542 0.00001
NM_000277.3(PAH):c.353-18G>A rs1876629905 0.00001
NM_000277.3(PAH):c.353-9G>T rs757191681 0.00001
NM_000277.3(PAH):c.356C>T (p.Pro119Leu) rs374999809 0.00001
NM_000277.3(PAH):c.36del (p.Arg13fs) rs1878413079 0.00001
NM_000277.3(PAH):c.375T>C (p.Ile125=) rs1028484259 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.424C>T (p.Leu142=) rs375364629 0.00001
NM_000277.3(PAH):c.42A>G (p.Lys14=) rs759956741 0.00001
NM_000277.3(PAH):c.435C>A (p.Asp145Glu) rs1375045653 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.442-17T>C rs1281535233 0.00001
NM_000277.3(PAH):c.442-1G>A rs62514907 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.450A>G (p.Lys150=) rs749317892 0.00001
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe) rs1565853526 0.00001
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00001
NM_000277.3(PAH):c.465T>C (p.Arg155=) rs1875983655 0.00001
NM_000277.3(PAH):c.467C>T (p.Ala156Val) rs570748767 0.00001
NM_000277.3(PAH):c.471A>G (p.Arg157=) rs199475612 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.495C>T (p.Ala165=) rs1875979842 0.00001
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr) rs1210056131 0.00001
NM_000277.3(PAH):c.504C>T (p.Tyr168=) rs281865455 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.509+17T>C rs1875973025 0.00001
NM_000277.3(PAH):c.509+18G>T rs749428436 0.00001
NM_000277.3(PAH):c.509+9G>A rs1392904247 0.00001
NM_000277.3(PAH):c.510-10T>C rs1256834291 0.00001
NM_000277.3(PAH):c.510-16T>G rs2136649964 0.00001
NM_000277.3(PAH):c.510-20A>G rs1054236412 0.00001
NM_000277.3(PAH):c.510-7A>G rs1457813929 0.00001
NM_000277.3(PAH):c.510-8T>C rs1384158258 0.00001
NM_000277.3(PAH):c.510-9G>A rs1875378619 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.521T>A (p.Ile174Asn) rs138809906 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.557C>T (p.Thr186Ile) rs1875371404 0.00001
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 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.569T>C (p.Val190Ala) rs62514919 0.00001
NM_000277.3(PAH):c.578C>T (p.Thr193Ile) rs2499626242 0.00001
NM_000277.3(PAH):c.590T>G (p.Leu197Trp) rs886042078 0.00001
NM_000277.3(PAH):c.59A>T (p.Gln20Leu) rs199475662 0.00001
NM_000277.3(PAH):c.60+10G>C rs1878409841 0.00001
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205 0.00001
NM_000277.3(PAH):c.61-17T>C rs1878260483 0.00001
NM_000277.3(PAH):c.61-7C>T rs1246404276 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_000277.3(PAH):c.632C>A (p.Pro211Gln) rs281865443 0.00001
NM_000277.3(PAH):c.633A>C (p.Pro211=) rs1347265181 0.00001
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198 0.00001
NM_000277.3(PAH):c.63A>C (p.Glu21Asp) rs753466976 0.00001
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589 0.00001
NM_000277.3(PAH):c.687C>T (p.Asp229=) rs966010608 0.00001
NM_000277.3(PAH):c.693T>C (p.Ser231=) rs1592954345 0.00001
NM_000277.3(PAH):c.693del (p.Gln232fs) rs1875353511 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.702G>A (p.Leu234=) rs993558609 0.00001
NM_000277.3(PAH):c.706+19C>A rs1425556025 0.00001
NM_000277.3(PAH):c.706+608A>C rs1001642956 0.00001
NM_000277.3(PAH):c.707-4C>A rs768323638 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.718T>G (p.Phe240Val) rs62507337 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 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.771C>T (p.Gly257=) rs544995045 0.00001
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932 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.786C>T (p.Val262=) rs776860902 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.789C>T (p.Phe263=) rs62642944 0.00001
NM_000277.3(PAH):c.793T>C (p.Cys265Arg) rs62517181 0.00001
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 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.825C>T (p.Pro275=) rs1875223145 0.00001
NM_000277.3(PAH):c.827T>C (p.Met276Thr) rs62508722 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.842+8C>T rs747113268 0.00001
NM_000277.3(PAH):c.913-18A>G rs764576729 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.930T>C (p.Ser310=) rs1438351961 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00001
NM_000277.3(PAH):c.938C>T (p.Ala313Val) rs62642914 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.943G>T (p.Asp315Tyr) rs62642917 0.00001
NM_000277.3(PAH):c.949T>C (p.Tyr317His) rs1874872863 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.969+12C>T rs1874869257 0.00001
NM_000277.3(PAH):c.969+16C>T rs1029064091 0.00001
NM_000277.3(PAH):c.969+19T>C rs756562423 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.974A>G (p.Tyr325Cys) rs62508578 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000277.3(PAH):c.994G>A (p.Gly332Arg) rs1187270724 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_000277.3(PAH):c.999C>G (p.Leu333=) rs777221457 0.00001
GRCh37/hg19 12q23.2(chr12:102929882-103248872)x3
NC_000012.11:g.(?_103232953)_(103240749_?)del
NC_000012.11:g.(?_103232953)_(103310908_?)dup
NC_000012.11:g.(?_103246573)_(103271348_?)del
NC_000012.11:g.(?_103248268)_(103249067_?)del
NC_000012.11:g.(?_103248776)_(103260427_?)del
NC_000012.11:g.(?_103248894)_(103249130_?)del
NC_000012.11:g.(?_103248894)_(103249131_?)del
NC_000012.11:g.(?_103260354)_(103260461_?)dup
NC_000012.11:g.(?_103288493)_(103310908_?)del
NC_000012.11:g.(?_103306549)_(103306696_?)del
NC_000012.12:g.(?_102854491)_(102855289_?)del
NC_000012.12:g.(?_102855126)_(102855342_?)del
NC_000012.12:g.(?_102866576)_(102866683_?)del
NC_000012.12:g.(?_102866586)_(102866673_?)del
NC_000012.12:g.(?_102894715)_(102894938_?)del
NC_000012.12:g.(?_102894725)_(102894931_?)del
NC_000012.12:g.(?_102894735)_(102894918_?)del
NC_000012.12:g.(?_102917061)_(102917140_?)del
NM_000277.1(PAH):c.1200-1delG rs63186960
NM_000277.1(PAH):c.169-?_352+?del
NM_000277.1(PAH):c.442-?_509+?del
NM_000277.1(PAH):c.442-?_706+?del
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.1:c.1-?_168+?del
NM_000277.1:c.169_171del
NM_000277.1:c.[722delG;c.735G>A]
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-225G>A rs199475594
NM_000277.2(PAH):c.-232C>G rs886048893
NM_000277.2(PAH):c.-460delG rs113191080
NM_000277.2(PAH):c.1066_1067ins6
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.*772_*775del rs551502562
NM_000277.3(PAH):c.-1C>T rs62507266
NM_000277.3(PAH):c.-4172_-406del3767
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser) rs62517174
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter) rs140243918
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.1011_1024dup (p.Ala342delinsGluThrProTer) rs2499615063
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) rs1169310686
NM_000277.3(PAH):c.1013A>T (p.Asp338Val) rs1169310686
NM_000277.3(PAH):c.1016C>T (p.Ser339Phe) rs2499615095
NM_000277.3(PAH):c.1017C>T (p.Ser339=) rs2499615092
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) rs550037937
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro) rs62507282
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu) rs796064501
NM_000277.3(PAH):c.1026A>C (p.Ala342=) rs766756246
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.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1028A>T (p.Tyr343Phe) rs62507265
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter) rs1874735553
NM_000277.3(PAH):c.1029T>C (p.Tyr343=) rs1874735553
NM_000277.3(PAH):c.1029T>G (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.1036G>A (p.Gly346Arg) rs62508688
NM_000277.3(PAH):c.1036G>C (p.Gly346Arg) rs62508688
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) rs1555203737
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.1045T>G (p.Ser349Ala) rs62508646
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter) rs62507279
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu) rs62507279
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) rs62517183
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys) rs62508628
NM_000277.3(PAH):c.1050C>A (p.Ser350=) rs2136636815
NM_000277.3(PAH):c.1050C>G (p.Ser350=) rs2136636815
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.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.105A>G (p.Ile35Met) rs768048739
NM_000277.3(PAH):c.1062A>G (p.Leu354=) rs2136636752
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter) rs199475633
NM_000277.3(PAH):c.1065+15G>A rs2499614934
NM_000277.3(PAH):c.1065+16G>A rs1874730687
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.1065+20C>A rs370258593
NM_000277.3(PAH):c.1065+20C>G rs370258593
NM_000277.3(PAH):c.1065+20C>T rs370258593
NM_000277.3(PAH):c.1065+241C>A rs2136636327
NM_000277.3(PAH):c.1065+32T>A rs62508724
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.1065+7C>T rs62508639
NM_000277.3(PAH):c.1065+8C>A rs2136636719
NM_000277.3(PAH):c.1065+8C>T rs2136636719
NM_000277.3(PAH):c.1065+9T>G rs1874730997
NM_000277.3(PAH):c.1066-10_1070del rs1592947582
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.1066-14C>T rs62507334
NM_000277.3(PAH):c.1066-19T>G rs2499614382
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.1066-31G>A rs199475685
NM_000277.3(PAH):c.1066-3C>G rs62507344
NM_000277.3(PAH):c.1066-5T>G rs910131541
NM_000277.3(PAH):c.1066-7C>T 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.1068C>T (p.Tyr356=) rs62516095
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
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.1071C>T (p.Cys357=) rs766107583
NM_000277.3(PAH):c.1073T>C (p.Leu358Ser)
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.1083G>A (p.Lys361=) rs1874700949
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr) rs62507329
NM_000277.3(PAH):c.1084C>T (p.Pro362Ser) rs62507329
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu) rs1592947563
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter) rs2499614247
NM_000277.3(PAH):c.1087_1088del (p.Lys363fs) rs199475667
NM_000277.3(PAH):c.1089G>A (p.Lys363=) rs63329263
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1092T>G (p.Leu364=) rs1174053337
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.1095C>A (p.Leu365=) rs747661840
NM_000277.3(PAH):c.1095C>T (p.Leu365=) rs747661840
NM_000277.3(PAH):c.1096C>G (p.Pro366Ala) rs2136635839
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1098C>G (p.Pro366=) rs776159017
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) rs1592947538
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.1108G>C (p.Glu370Gln)
NM_000277.3(PAH):c.1108del (p.Glu370fs) rs2499614176
NM_000277.3(PAH):c.110T>C (p.Leu37Pro) rs869312996
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter) rs2499614171
NM_000277.3(PAH):c.1111_1117del (p.Lys371fs) rs2499614156
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) rs62507268
NM_000277.3(PAH):c.1113G>A (p.Lys371=) rs2499614168
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.1115_1116dup (p.Ala373fs) rs2499614160
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.111_115dup (p.Phe39Ter)
NM_000277.3(PAH):c.111dup (p.Ile38fs) rs199475674
NM_000277.3(PAH):c.1120A>C (p.Ile374Leu)
NM_000277.3(PAH):c.1120A>G (p.Ile374Val) rs769076484
NM_000277.3(PAH):c.1125A>C (p.Gln375His)
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser) rs1830162545
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.1134T>C (p.Thr378=) rs1874693005
NM_000277.3(PAH):c.1134T>G (p.Thr378=) rs1874693005
NM_000277.3(PAH):c.1137C>A (p.Val379=)
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.1149del (p.Gln383fs) rs1874691210
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1152C>A (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1153del (p.Leu385fs) rs1565842203
NM_000277.3(PAH):c.1153dup (p.Leu385fs)
NM_000277.3(PAH):c.1154T>C (p.Leu385Pro) rs1846383965
NM_000277.3(PAH):c.1155C>A (p.Leu385=) rs772897
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His) rs2136635586
NM_000277.3(PAH):c.1156T>C (p.Tyr386His) rs199475691
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1158T>C (p.Tyr386=) rs2136635574
NM_000277.3(PAH):c.1158_1167del (p.Leu385_Tyr386insTer)
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.1161C>G (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.1164G>C (p.Val388=) rs2499614058
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.1167A>G (p.Ala389=) rs2136635539
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.1172G>T (p.Ser391Ile) rs869312997
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser) rs199475695
NM_000277.3(PAH):c.1176dup (p.Asn393Ter) rs2499613973
NM_000277.3(PAH):c.1177_1178insT (p.Asn393fs) rs2499613967
NM_000277.3(PAH):c.1179_1180del (p.Asn393fs) rs1291212529
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.1189G>T (p.Glu397Ter) rs1237673210
NM_000277.3(PAH):c.1192A>G (p.Lys398Glu) rs2136635468
NM_000277.3(PAH):c.1192A>T (p.Lys398Ter) rs2136635468
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.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+18G>A rs775701242
NM_000277.3(PAH):c.1199+19T>C rs2499613882
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 rs62509015
NM_000277.3(PAH):c.1199+20G>C rs62509018
NM_000277.3(PAH):c.1199+2T>C rs62508737
NM_000277.3(PAH):c.1199+2T>G rs62508737
NM_000277.3(PAH):c.1199+4A>C rs1471682834
NM_000277.3(PAH):c.1199+4A>G rs1471682834
NM_000277.3(PAH):c.1199+502A>T rs2136634974
NM_000277.3(PAH):c.1199+50G>A rs369574052
NM_000277.3(PAH):c.1199+5G>A rs62508674
NM_000277.3(PAH):c.1199+5G>T rs62508674
NM_000277.3(PAH):c.1199+88C>T rs2499613739
NM_000277.3(PAH):c.1199+9G>C rs2499613900
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.119C>T (p.Ser40Leu) rs62642938
NM_000277.3(PAH):c.1200-16G>A rs2499611313
NM_000277.3(PAH):c.1200-17T>G rs2499611317
NM_000277.3(PAH):c.1200-19C>A rs2499611323
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.1200-4T>A rs2136632220
NM_000277.3(PAH):c.1200-6T>C
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1200-8G>C rs62507261
NM_000277.3(PAH):c.1200-8G>T rs62507261
NM_000277.3(PAH):c.1200-9T>C rs1329150180
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.1209del (p.Ala404fs) rs1555203401
NM_000277.3(PAH):c.120_121del (p.Leu41fs) rs2499542511
NM_000277.3(PAH):c.1210G>C (p.Ala404Pro) rs886043085
NM_000277.3(PAH):c.1215A>G (p.Thr405=) rs771382634
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.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1220del (p.Pro407fs) rs62644489
NM_000277.3(PAH):c.1221T>G (p.Pro407=) rs2499611183
NM_000277.3(PAH):c.1228T>A (p.Phe410Ile) rs1874543567
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
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) rs62644477
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.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys) rs2499611116
NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter) rs1801152
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.1247C>T (p.Pro416Leu)
NM_000277.3(PAH):c.1247del (p.Pro416fs)
NM_000277.3(PAH):c.1248A>C (p.Pro416=) rs1874540728
NM_000277.3(PAH):c.1248A>G (p.Pro416=) rs1874540728
NM_000277.3(PAH):c.1249T>A (p.Tyr417Asn) rs62644471
NM_000277.3(PAH):c.1249T>C (p.Tyr417His) rs62644471
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.1253C>A (p.Thr418Asn) rs1874539947
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile) rs1874539947
NM_000277.3(PAH):c.1254C>A (p.Thr418=) rs755787172
NM_000277.3(PAH):c.1257A>G (p.Gln419=) rs2136632019
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.1264G>A (p.Glu422Lys) rs199475621
NM_000277.3(PAH):c.1266G>A (p.Glu422=) rs2499611021
NM_000277.3(PAH):c.1269C>T (p.Val423=)
NM_000277.3(PAH):c.126A>C (p.Lys42Asn)
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.1276A>C (p.Asn426His)
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.127del (p.Glu43fs) rs2136728245
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1282del (p.Gln428fs) rs2136631967
NM_000277.3(PAH):c.1286A>C (p.Gln429Pro) rs794727047
NM_000277.3(PAH):c.1287G>A (p.Gln429=) rs2136631945
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.1303G>A (p.Asp435Asn)
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1305T>C (p.Asp435=) rs748303375
NM_000277.3(PAH):c.1306del (p.Ser436fs) rs1874535712
NM_000277.3(PAH):c.130G>T (p.Glu44Ter) rs2499542475
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+10T>G rs2499610896
NM_000277.3(PAH):c.1315+13C>T rs2499610895
NM_000277.3(PAH):c.1315+14del rs2499610894
NM_000277.3(PAH):c.1315+16C>A rs550259402
NM_000277.3(PAH):c.1315+17T>C rs1874533093
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.1315+7A>C rs2499610900
NM_000277.3(PAH):c.1315+9T>C rs199979357
NM_000277.3(PAH):c.1315A>T (p.Ser439Cys)
NM_000277.3(PAH):c.1316-15T>C rs62508635
NM_000277.3(PAH):c.1316-17G>A rs2499609950
NM_000277.3(PAH):c.1316-1G>A rs1592944816
NM_000277.3(PAH):c.1316-1G>C rs1592944816
NM_000277.3(PAH):c.1316-2A>C rs760830761
NM_000277.3(PAH):c.1316-5T>C rs62509020
NM_000277.3(PAH):c.1316-8C>A rs2136630870
NM_000277.3(PAH):c.1316-9T>C rs768737085
NM_000277.3(PAH):c.1318G>T (p.Glu440Ter) rs1874485021
NM_000277.3(PAH):c.1329C>A (p.Ile443=) rs1285012083
NM_000277.3(PAH):c.1332T>G (p.Leu444=) rs957481163
NM_000277.3(PAH):c.1334G>T (p.Cys445Phe) rs1874484048
NM_000277.3(PAH):c.1334del (p.Cys445fs) rs2499609864
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr) rs1192400891
NM_000277.3(PAH):c.133G>T (p.Val45Phe) rs1878255139
NM_000277.3(PAH):c.1341C>A (p.Ala447=) rs2136630826
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe) rs2499609842
NM_000277.3(PAH):c.1344C>T (p.Leu448=) rs747923532
NM_000277.3(PAH):c.134T>C (p.Val45Ala) rs1592988883
NM_000277.3(PAH):c.1353A>C (p.Ile451=) rs1440206706
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.135T>C (p.Val45=) rs773425620
NM_000277.3(PAH):c.136G>C (p.Gly46Arg) rs74603784
NM_000277.3(PAH):c.137G>A (p.Gly46Asp)
NM_000277.3(PAH):c.137del (p.Gly46fs) rs199475591
NM_000277.3(PAH):c.13del (p.Val5fs) rs1592991243
NM_000277.3(PAH):c.140C>A (p.Ala47Glu) rs118203925
NM_000277.3(PAH):c.146C>A (p.Ala49Asp) rs1878253465
NM_000277.3(PAH):c.146C>T (p.Ala49Val) rs1878253465
NM_000277.3(PAH):c.147C>G (p.Ala49=) rs2136728129
NM_000277.3(PAH):c.148A>G (p.Lys50Glu) rs776829633
NM_000277.3(PAH):c.148A>T (p.Lys50Ter) rs776829633
NM_000277.3(PAH):c.152T>C (p.Val51Ala)
NM_000277.3(PAH):c.153A>G (p.Val51=)
NM_000277.3(PAH):c.153A>T (p.Val51=) rs2136728110
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000277.3(PAH):c.157C>A (p.Arg53Ser) rs199475619
NM_000277.3(PAH):c.157C>G (p.Arg53Gly) rs199475619
NM_000277.3(PAH):c.159C>T (p.Arg53=) rs2136728068
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.165T>C (p.Phe55=) rs199475598
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.166del (p.Glu56fs) rs1878251285
NM_000277.3(PAH):c.168+14T>C rs866065497
NM_000277.3(PAH):c.168+17T>C rs962942293
NM_000277.3(PAH):c.168+18G>T rs2499542271
NM_000277.3(PAH):c.168+19T>G rs17842947
NM_000277.3(PAH):c.168+1G>T rs62514898
NM_000277.3(PAH):c.168+2T>A rs1025860114
NM_000277.3(PAH):c.168+2T>C rs1025860114
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.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.169-10T>G rs536596014
NM_000277.3(PAH):c.169-16_169-15del rs1204033516
NM_000277.3(PAH):c.169-18C>A rs1592979038
NM_000277.3(PAH):c.169-1G>A rs1877439517
NM_000277.3(PAH):c.169-3T>G rs1877439666
NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG
NM_000277.3(PAH):c.169-5T>A rs2136702231
NM_000277.3(PAH):c.169-7C>G rs2136702235
NM_000277.3(PAH):c.169-8T>C rs2499521960
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.181A>G (p.Asn61Asp) rs199475651
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.184C>G (p.Leu62Val) rs1565866640
NM_000277.3(PAH):c.184C>T (p.Leu62=) 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.187_190delinsCCCA (p.Thr63_His64delinsProAsn) rs1877437047
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.192C>T (p.His64=) rs2499521793
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643
NM_000277.3(PAH):c.194T>A (p.Ile65Asn) rs75193786
NM_000277.3(PAH):c.194T>G (p.Ile65Ser) 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.199T>G (p.Ser67Ala) rs5030842
NM_000277.3(PAH):c.1A>T (p.Met1Leu) rs62514891
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr) rs2136702072
NM_000277.3(PAH):c.200C>G (p.Ser67Cys) rs2136702072
NM_000277.3(PAH):c.201T>G (p.Ser67=) rs1368765465
NM_000277.3(PAH):c.202A>G (p.Arg68Gly) rs199475639
NM_000277.3(PAH):c.204A>G (p.Arg68=) rs76394784
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) rs199475678
NM_000277.3(PAH):c.206C>T (p.Pro69Leu) rs1877434841
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.210del (p.Arg71fs) rs2136701994
NM_000277.3(PAH):c.212G>C (p.Arg71Pro) rs62508695
NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr) rs2136701938
NM_000277.3(PAH):c.21A>G (p.Glu7=) rs2136734114
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>C (p.Glu76Ala) rs62507347
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.229T>C (p.Tyr77His) rs1877431851
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.234A>T (p.Glu78Asp) rs2136701879
NM_000277.3(PAH):c.234dup (p.Phe79fs)
NM_000277.3(PAH):c.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.23A>C (p.Asn8Thr) rs1878414153
NM_000277.3(PAH):c.23del (p.Asn8fs) rs2499546518
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.247T>C (p.Leu83=) rs2136701833
NM_000277.3(PAH):c.250G>A (p.Asp84Asn) rs62514902
NM_000277.3(PAH):c.253A>T (p.Lys85Ter) rs1877430029
NM_000277.3(PAH):c.256del (p.Arg86fs) rs2499521460
NM_000277.3(PAH):c.257G>C (p.Arg86Pro)
NM_000277.3(PAH):c.261C>T (p.Ser87=) rs62516151
NM_000277.3(PAH):c.264G>A (p.Leu88=) rs2499521414
NM_000277.3(PAH):c.265C>A (p.Pro89Thr) rs62507270
NM_000277.3(PAH):c.265C>T (p.Pro89Ser) rs62507270
NM_000277.3(PAH):c.266_267insG (p.Ala90fs) rs1592978760
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.277_280del (p.Asn93fs) rs2499521354
NM_000277.3(PAH):c.27A>C (p.Pro9=) rs2499546501
NM_000277.3(PAH):c.280_283del (p.Ile94fs) rs2499521340
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.291C>T (p.Ile97=) rs2136701670
NM_000277.3(PAH):c.292T>G (p.Leu98Val) rs1592978725
NM_000277.3(PAH):c.295A>G (p.Arg99Gly) rs2136701651
NM_000277.3(PAH):c.297G>A (p.Arg99=) rs1437421009
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.302A>G (p.Asp101Gly) rs1877425793
NM_000277.3(PAH):c.303C>T (p.Asp101=) rs1877425639
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.307G>A (p.Gly103Ser) rs752792040
NM_000277.3(PAH):c.308G>A (p.Gly103Asp) rs2136701578
NM_000277.3(PAH):c.309T>G (p.Gly103=) rs2136701573
NM_000277.3(PAH):c.30dup (p.Arg13fs) rs1592991220
NM_000277.3(PAH):c.311C>T (p.Ala104Val) rs62642929
NM_000277.3(PAH):c.312C>T (p.Ala104=) rs2499521166
NM_000277.3(PAH):c.317T>C (p.Val106Ala)
NM_000277.3(PAH):c.320A>C (p.His107Pro) rs542645236
NM_000277.3(PAH):c.324_328del (p.Glu108fs) rs1877424058
NM_000277.3(PAH):c.327T>C (p.Leu109=) rs1229487239
NM_000277.3(PAH):c.329C>T (p.Ser110Leu) rs199475627
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.32T>A (p.Leu11Ter) rs1346707834
NM_000277.3(PAH):c.337A>T (p.Lys113Ter) rs1331306772
NM_000277.3(PAH):c.338_341del (p.Lys113fs) rs2499521071
NM_000277.3(PAH):c.339G>A (p.Lys113=) rs2499521078
NM_000277.3(PAH):c.339GAA[1] (p.Lys115del) rs1555207969
NM_000277.3(PAH):c.33G>A (p.Leu11=)
NM_000277.3(PAH):c.342G>A (p.Lys114=) rs2136701489
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.350_351del (p.Thr117fs) rs2499521013
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.352+10A>C rs559561517
NM_000277.3(PAH):c.352+164T>A rs78243047
NM_000277.3(PAH):c.352+16A>G rs2499520930
NM_000277.3(PAH):c.352+1G>A rs199475684
NM_000277.3(PAH):c.352+294dup rs3062651
NM_000277.3(PAH):c.352+2dup rs1057516604
NM_000277.3(PAH):c.352+305del rs3062651
NM_000277.3(PAH):c.352+7A>C rs2136701430
NM_000277.3(PAH):c.352+7A>T rs2136701430
NM_000277.3(PAH):c.353-16C>T rs1592968862
NM_000277.3(PAH):c.353-172G>A rs74392296
NM_000277.3(PAH):c.353-1G>A rs1876628530
NM_000277.3(PAH):c.353-2059_353-1160del rs2136680756
NM_000277.3(PAH):c.353-2A>C
NM_000277.3(PAH):c.353-2A>G rs1876628624
NM_000277.3(PAH):c.353-2A>T rs1876628624
NM_000277.3(PAH):c.353-4T>G rs2136679249
NM_000277.3(PAH):c.353-6T>A rs62517195
NM_000277.3(PAH):c.353-7G>A rs2136679264
NM_000277.3(PAH):c.353-7G>T rs2136679264
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.353-8T>C rs1174392751
NM_000277.3(PAH):c.357C>T (p.Pro119=) rs2136679226
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.359G>A (p.Trp120Ter) rs199475586
NM_000277.3(PAH):c.361T>C (p.Phe121Leu) rs1876627337
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.365C>A (p.Pro122Gln) rs199475622
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs) rs2499496098
NM_000277.3(PAH):c.365del (p.Pro122fs) rs1876626818
NM_000277.3(PAH):c.366A>G (p.Pro122=) rs2499496093
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.371C>A (p.Thr124Asn) rs199475571
NM_000277.3(PAH):c.371C>T (p.Thr124Ile) rs199475571
NM_000277.3(PAH):c.374T>C (p.Ile125Thr) rs2499496055
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.381G>A (p.Glu127=) rs767127989
NM_000277.3(PAH):c.384G>A (p.Leu128=) rs879012174
NM_000277.3(PAH):c.385G>C (p.Asp129His) rs199475606
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.386A>C (p.Asp129Ala)
NM_000277.3(PAH):c.386A>T (p.Asp129Val) rs199475623
NM_000277.3(PAH):c.392T>C (p.Phe131Ser) rs1876624286
NM_000277.3(PAH):c.395C>T (p.Ala132Val)
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.39G>A (p.Arg13=) rs2499546482
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.413A>G (p.Tyr138Cys)
NM_000277.3(PAH):c.414T>C (p.Tyr138=) rs1592968741
NM_000277.3(PAH):c.419C>A (p.Ala140Glu) rs372657268
NM_000277.3(PAH):c.419C>G (p.Ala140Gly)
NM_000277.3(PAH):c.419C>T (p.Ala140Val) rs372657268
NM_000277.3(PAH):c.420G>T (p.Ala140=) rs200366386
NM_000277.3(PAH):c.428A>G (p.Asp143Gly) rs199475572
NM_000277.3(PAH):c.432T>C (p.Ala144=) rs1592968712
NM_000277.3(PAH):c.435C>T (p.Asp145=) rs1375045653
NM_000277.3(PAH):c.436C>T (p.His146Tyr) rs199475599
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.440del (p.Pro147fs) rs2499495824
NM_000277.3(PAH):c.441+10T>C rs752460880
NM_000277.3(PAH):c.441+12G>A rs767307581
NM_000277.3(PAH):c.441+16G>T rs751195330
NM_000277.3(PAH):c.441+18del rs2499495734
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+20G>T rs111842675
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+5G>C
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.441+8C>T rs777613969
NM_000277.3(PAH):c.442-10T>C rs2499637092
NM_000277.3(PAH):c.442-1377_509+226del
NM_000277.3(PAH):c.442-14C>G rs775806999
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 rs281865448
NM_000277.3(PAH):c.442-4403_509+883del
NM_000277.3(PAH):c.442-4C>G rs987125136
NM_000277.3(PAH):c.442-4C>T rs987125136
NM_000277.3(PAH):c.442-7C>A rs772301228
NM_000277.3(PAH):c.442-7C>T rs772301228
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.447T>C (p.Phe149=) rs770990005
NM_000277.3(PAH):c.447del (p.Phe149fs)
NM_000277.3(PAH):c.44T>A (p.Leu15His) rs1319374413
NM_000277.3(PAH):c.44T>G (p.Leu15Arg) rs1319374413
NM_000277.3(PAH):c.450dup (p.Asp151fs) rs2499637040
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.458T>C (p.Val153Ala) rs2499637013
NM_000277.3(PAH):c.45C>G (p.Leu15=) rs2499546464
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.462C>A (p.Tyr154Ter) rs1191473722
NM_000277.3(PAH):c.462C>T (p.Tyr154=) 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.467C>A (p.Ala156Glu) rs570748767
NM_000277.3(PAH):c.467C>G (p.Ala156Gly) rs570748767
NM_000277.3(PAH):c.467del (p.Ala156fs) rs2499636974
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) rs62642946
NM_000277.3(PAH):c.470G>A (p.Arg157Lys) rs199475611
NM_000277.3(PAH):c.470G>C (p.Arg157Thr) rs199475611
NM_000277.3(PAH):c.470G>T (p.Arg157Ile) rs199475611
NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn) rs1565853495
NM_000277.3(PAH):c.471A>C (p.Arg157Ser) rs199475612
NM_000277.3(PAH):c.472C>G (p.Arg158Gly) rs75166491
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.474G>A (p.Arg158=) rs2136663312
NM_000277.3(PAH):c.477G>A (p.Lys159=) rs2499636933
NM_000277.3(PAH):c.478C>T (p.Gln160Ter) rs2499636931
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) rs62642906
NM_000277.3(PAH):c.47_48insCT (p.Asp17fs) rs1592991184
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.489C>T (p.Asp163=) rs1315260421
NM_000277.3(PAH):c.48dup (p.Asp17Ter) rs1592991176
NM_000277.3(PAH):c.491T>C (p.Ile164Thr) rs199475595
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.493_496del (p.Ala165fs) rs2499636893
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.500_504delinsGCTAT (p.Asn167Ser) rs2499636842
NM_000277.3(PAH):c.502T>A (p.Tyr168Asn)
NM_000277.3(PAH):c.502T>C (p.Tyr168His) rs199475646
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.506G>T (p.Arg169Leu) rs199475679
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655
NM_000277.3(PAH):c.509+15C>T rs771057207
NM_000277.3(PAH):c.509+19T>C rs1249813599
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.509+1del rs62514911
NM_000277.3(PAH):c.509+41C>T rs1210938582
NM_000277.3(PAH):c.509+54C>G rs62517171
NM_000277.3(PAH):c.509+5del rs62517175
NM_000277.3(PAH):c.509+8T>C
NM_000277.3(PAH):c.509+9del rs2499636795
NM_000277.3(PAH):c.509A>C (p.His170Pro) rs199475573
NM_000277.3(PAH):c.509A>G (p.His170Arg) rs199475573
NM_000277.3(PAH):c.510-14T>C rs756613907
NM_000277.3(PAH):c.510-18T>G
NM_000277.3(PAH):c.510-19_667del rs2499625936
NM_000277.3(PAH):c.510-1G>A rs1875377960
NM_000277.3(PAH):c.510-1G>C rs1875377960
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000277.3(PAH):c.510-21_687delinsCCA rs2136649216
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.510-6T>A rs62507281
NM_000277.3(PAH):c.510-6T>G rs62507281
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.511G>C (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.511G>T (p.Gly171Trp)
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.515A>G (p.Gln172Arg) rs2499626437
NM_000277.3(PAH):c.516G>C (p.Gln172His) rs192592111
NM_000277.3(PAH):c.517C>A (p.Pro173Thr) rs199475574
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.526C>A (p.Arg176=) rs199475575
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.527G>C (p.Arg176Pro) rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.533A>T (p.Glu178Val) rs77958223
NM_000277.3(PAH):c.535T>C (p.Tyr179His) rs199475671
NM_000277.3(PAH):c.535_536del (p.Tyr179fs) rs2499626365
NM_000277.3(PAH):c.538A>G (p.Met180Val) rs1875373366
NM_000277.3(PAH):c.540GGA[1] (p.Glu183del) rs1875372846
NM_000277.3(PAH):c.543G>A (p.Glu181=) rs2499626346
NM_000277.3(PAH):c.544G>A (p.Glu182Lys) rs2136649777
NM_000277.3(PAH):c.547G>C (p.Glu183Gln) rs199475664
NM_000277.3(PAH):c.547G>T (p.Glu183Ter) rs199475664
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu) rs281865433
NM_000277.3(PAH):c.548A>G (p.Glu183Gly)
NM_000277.3(PAH):c.54T>C (p.Phe18=) rs1878411076
NM_000277.3(PAH):c.551del (p.Lys184fs) rs1875371722
NM_000277.3(PAH):c.552G>T (p.Lys184Asn)
NM_000277.3(PAH):c.552_554del (p.Lys185del) rs2499626322
NM_000277.3(PAH):c.553A>G (p.Lys185Glu) rs2499626324
NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT
NM_000277.3(PAH):c.553_706+647del
NM_000277.3(PAH):c.556A>G (p.Thr186Ala) rs2499626313
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.55G>C (p.Gly19Arg)
NM_000277.3(PAH):c.560G>A (p.Trp187Ter)
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.563del (p.Gly188fs) rs62507260
NM_000277.3(PAH):c.566C>G (p.Thr189Arg) rs1555204728
NM_000277.3(PAH):c.567A>G (p.Thr189=) rs1368976942
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.570G>A (p.Val190=) rs2136649631
NM_000277.3(PAH):c.574A>G (p.Lys192Glu) rs932415157
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer) rs2136649605
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.581T>G (p.Leu194Arg)
NM_000277.3(PAH):c.582G>C (p.Leu194=)
NM_000277.3(PAH):c.582G>T (p.Leu194=)
NM_000277.3(PAH):c.584dup (p.Ser196fs) rs1875368328
NM_000277.3(PAH):c.586T>A (p.Ser196Thr) rs2136649583
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.590_612del (p.Ser196_Leu197insTer) rs63083561
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>A (p.Tyr198Ter)
NM_000277.3(PAH):c.594T>G (p.Tyr198Ter) rs2499626201
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+10G>A rs1878409841
NM_000277.3(PAH):c.60+12C>T rs2499546391
NM_000277.3(PAH):c.60+17T>A rs2499546385
NM_000277.3(PAH):c.60+19A>G rs2499546379
NM_000277.3(PAH):c.60+1G>C rs1555209932
NM_000277.3(PAH):c.60+2del rs2499546405
NM_000277.3(PAH):c.60+40T>G rs199475683
NM_000277.3(PAH):c.60+4A>T rs1592991145
NM_000277.3(PAH):c.60+5G>A rs62514895
NM_000277.3(PAH):c.60+5G>C rs62514895
NM_000277.3(PAH):c.60+5_60+6del rs1592991131
NM_000277.3(PAH):c.60+62C>G rs1522296
NM_000277.3(PAH):c.60+7_60+12del rs2499546393
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.603T>C (p.His201=)
NM_000277.3(PAH):c.603T>G (p.His201Gln) rs751977644
NM_000277.3(PAH):c.604G>A (p.Ala202Thr) rs2499626176
NM_000277.3(PAH):c.605C>T (p.Ala202Val) rs2136649533
NM_000277.3(PAH):c.607T>A (p.Cys203Ser) rs1555204715
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.61-10T>C rs1050826516
NM_000277.3(PAH):c.61-13T>C rs2499542678
NM_000277.3(PAH):c.61-15C>A rs1296482544
NM_000277.3(PAH):c.61-15C>T rs1296482544
NM_000277.3(PAH):c.61-3T>C rs1878260066
NM_000277.3(PAH):c.61-4G>A rs2499542664
NM_000277.3(PAH):c.61-4del rs2499542667
NM_000277.3(PAH):c.61-6C>T rs2136728439
NM_000277.3(PAH):c.61-9A>C rs2136728443
NM_000277.3(PAH):c.61-9A>T rs2136728443
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
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.614A>C (p.Glu205Ala) rs62508593
NM_000277.3(PAH):c.614A>G (p.Glu205Gly) rs62508593
NM_000277.3(PAH):c.615G>A (p.Glu205=) rs765552494
NM_000277.3(PAH):c.615G>C (p.Glu205Asp) rs765552494
NM_000277.3(PAH):c.616T>G (p.Tyr206Asp) rs62517170
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.618_625del (p.Asn207fs) rs2499626087
NM_000277.3(PAH):c.619A>G (p.Asn207Asp) rs62508572
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.626T>C (p.Ile209Thr) rs1409955402
NM_000277.3(PAH):c.627T>C (p.Ile209=)
NM_000277.3(PAH):c.630T>C (p.Phe210=)
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.632dup (p.Leu212fs) rs62514929
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.640G>T (p.Glu214Ter) rs2499626026
NM_000277.3(PAH):c.641A>G (p.Glu214Gly) rs2499626022
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>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.650G>T (p.Cys217Phe) rs62508617
NM_000277.3(PAH):c.651T>C (p.Cys217=) rs2136649339
NM_000277.3(PAH):c.654C>G (p.Gly218=) rs777465976
NM_000277.3(PAH):c.654C>T (p.Gly218=) rs777465976
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr) rs1164279708
NM_000277.3(PAH):c.656T>C (p.Phe219Ser) rs1164279708
NM_000277.3(PAH):c.657C>T (p.Phe219=) rs2499625975
NM_000277.3(PAH):c.659A>C (p.His220Pro) rs1592954413
NM_000277.3(PAH):c.661G>A (p.Glu221Lys) rs2136649314
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.667A>T (p.Asn223Tyr) rs2136649290
NM_000277.3(PAH):c.667_674dup (p.Gln226fs) rs2136649263
NM_000277.3(PAH):c.668A>G (p.Asn223Ser) rs201245932
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.669C>T (p.Asn223=) rs1875356807
NM_000277.3(PAH):c.669del (p.Asn223fs) rs2499625924
NM_000277.3(PAH):c.66A>C (p.Thr22=) rs2136728416
NM_000277.3(PAH):c.670A>C (p.Ile224Leu) rs2499625917
NM_000277.3(PAH):c.670A>G (p.Ile224Val) rs2499625917
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.672T>G (p.Ile224Met) rs199475576
NM_000277.3(PAH):c.673C>G (p.Pro225Ala) rs199475589
NM_000277.3(PAH):c.674C>G (p.Pro225Arg) rs62517204
NM_000277.3(PAH):c.674C>T (p.Pro225Leu) rs62517204
NM_000277.3(PAH):c.675C>T (p.Pro225=) rs2136649258
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) rs2499625897
NM_000277.3(PAH):c.677_686del (p.Gln226fs) rs1875355050
NM_000277.3(PAH):c.678G>C (p.Gln226His) rs62508615
NM_000277.3(PAH):c.679C>A (p.Leu227Met) rs2136649242
NM_000277.3(PAH):c.679C>G (p.Leu227Val) rs2136649242
NM_000277.3(PAH):c.679C>T (p.Leu227=) 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.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.692C>T (p.Ser231Phe) rs62508577
NM_000277.3(PAH):c.693_694del (p.Gln232fs) rs2499625821
NM_000277.3(PAH):c.694C>G (p.Gln232Glu) rs62507348
NM_000277.3(PAH):c.694_696delinsTAA (p.Gln232Ter)
NM_000277.3(PAH):c.695A>T (p.Gln232Leu) rs1875352952
NM_000277.3(PAH):c.696G>C (p.Gln232His)
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>A (p.Gln235Lys) rs1237792711
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+11A>C rs1875351010
NM_000277.3(PAH):c.706+11A>T rs1875351010
NM_000277.3(PAH):c.706+12T>G rs2499625740
NM_000277.3(PAH):c.706+368T>C rs2136648640
NM_000277.3(PAH):c.706+387T>C
NM_000277.3(PAH):c.706+531T>C rs2499625095
NM_000277.3(PAH):c.706+5G>A rs1331362460
NM_000277.3(PAH):c.706+608A>G
NM_000277.3(PAH):c.706+8C>A rs2136649125
NM_000277.3(PAH):c.706+8C>T rs2136649125
NM_000277.3(PAH):c.706+9A>G rs2499625750
NM_000277.3(PAH):c.707-12T>C rs1021346905
NM_000277.3(PAH):c.707-12_711del rs1555204492
NM_000277.3(PAH):c.707-14T>C
NM_000277.3(PAH):c.707-17_707-14del rs2499623619
NM_000277.3(PAH):c.707-18T>C rs779692890
NM_000277.3(PAH):c.707-18T>G rs779692890
NM_000277.3(PAH):c.707-1G>A rs62507269
NM_000277.3(PAH):c.707-1G>C rs62507269
NM_000277.3(PAH):c.707-2A>G rs62514938
NM_000277.3(PAH):c.707-2A>T rs62514938
NM_000277.3(PAH):c.707-2del rs1592953143
NM_000277.3(PAH):c.707-7A>G
NM_000277.3(PAH):c.707-8C>T rs764946616
NM_000277.3(PAH):c.712A>G (p.Thr238Ala) rs199475577
NM_000277.3(PAH):c.713C>T (p.Thr238Ile) rs2499623566
NM_000277.3(PAH):c.714T>A (p.Thr238=) rs2136646476
NM_000277.3(PAH):c.714T>C (p.Thr238=) rs2136646476
NM_000277.3(PAH):c.715G>A (p.Gly239Ser) rs62517178
NM_000277.3(PAH):c.716G>A (p.Gly239Asp) rs62507283
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.720C>T (p.Phe240=) rs2499623539
NM_000277.3(PAH):c.721C>A (p.Arg241Ser) rs76687508
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.722_735delinsCCTCCGACCTGTA (p.Arg241fs) rs2136646367
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.728G>T (p.Arg243Leu) rs62508588
NM_000277.3(PAH):c.72T>A (p.Tyr24Ter) rs2136728385
NM_000277.3(PAH):c.72T>C (p.Tyr24=) rs2136728385
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.732T>G (p.Pro244=) rs2499623486
NM_000277.3(PAH):c.733G>A (p.Val245Met) rs62508694
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu) rs2499623474
NM_000277.3(PAH):c.734T>A (p.Val245Glu) rs76212747
NM_000277.3(PAH):c.734_735inv (p.Val245Ala)
NM_000277.3(PAH):c.735_737delinsAG (p.Ala246fs)
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.737del (p.Ala246fs) rs199475666
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.740del (p.Gly247fs) rs2136646337
NM_000277.3(PAH):c.742C>T (p.Leu248=) rs1592953055
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.745_755del (p.Leu249fs) rs2499623372
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.746T>A (p.Leu249His) rs62507338
NM_000277.3(PAH):c.750C>A (p.Ser250=) rs1592953026
NM_000277.3(PAH):c.750C>T (p.Ser250=) rs1592953026
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>A (p.Arg252=) rs5030847
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.756G>A (p.Arg252=) rs1320172123
NM_000277.3(PAH):c.756G>T (p.Arg252=)
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.75T>A (p.Ile25=)
NM_000277.3(PAH):c.75T>C (p.Ile25=) rs1592988950
NM_000277.3(PAH):c.75del (p.Ile25fs) rs2499542607
NM_000277.3(PAH):c.760T>A (p.Phe254Ile) rs62642909
NM_000277.3(PAH):c.763T>G (p.Leu255Val) rs62642931
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.769G>A (p.Gly257Ser) rs5030848
NM_000277.3(PAH):c.769G>T (p.Gly257Cys) rs5030848
NM_000277.3(PAH):c.770G>A (p.Gly257Asp) rs62642908
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.771C>A (p.Gly257=) rs544995045
NM_000277.3(PAH):c.773T>C (p.Leu258Pro) rs1565846899
NM_000277.3(PAH):c.774G>A (p.Leu258=) rs2136646229
NM_000277.3(PAH):c.774G>T (p.Leu258=) rs2136646229
NM_000277.3(PAH):c.776C>G (p.Ala259Gly) rs118203921
NM_000277.3(PAH):c.780C>G (p.Phe260Leu) rs2499623316
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.781del (p.Arg261fs)
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.783A>G (p.Arg261=) rs2136646206
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.789C>A (p.Phe263Leu) rs62642944
NM_000277.3(PAH):c.78del (p.Asp27fs) rs2499542595
NM_000277.3(PAH):c.790C>T (p.His264Tyr)
NM_000277.3(PAH):c.790del (p.His264fs) rs1057517009
NM_000277.3(PAH):c.791A>G (p.His264Arg) rs199475580
NM_000277.3(PAH):c.791A>T (p.His264Leu) rs199475580
NM_000277.3(PAH):c.792C>T (p.His264=) rs912042558
NM_000277.3(PAH):c.792del (p.Cys265fs) rs2499623283
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.795C>T (p.Cys265=) rs1231529155
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.796A>G (p.Thr266Ala) rs62508752
NM_000277.3(PAH):c.797C>A (p.Thr266Lys) rs62508753
NM_000277.3(PAH):c.797C>T (p.Thr266Ile) rs62508753
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.800dup (p.Tyr268fs)
NM_000277.3(PAH):c.801G>A (p.Gln267=) rs199475675
NM_000277.3(PAH):c.801G>C (p.Gln267His) rs199475675
NM_000277.3(PAH):c.801del (p.Gln267fs) rs1875230062
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.805A>G (p.Ile269Val) rs62508692
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.807C>A (p.Ile269=) rs2499623176
NM_000277.3(PAH):c.808A>G (p.Arg270Gly) rs199475690
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del) rs2499623150
NM_000277.3(PAH):c.810A>T (p.Arg270Ser) rs62514951
NM_000277.3(PAH):c.810_814del (p.His271fs) rs62507286
NM_000277.3(PAH):c.811C>A (p.His271Asn) rs62517164
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.816A>G (p.Gly272=) rs2499623162
NM_000277.3(PAH):c.817T>C (p.Ser273Pro) rs1565846754
NM_000277.3(PAH):c.81C>T (p.Asp27=) rs1878258443
NM_000277.3(PAH):c.821A>G (p.Lys274Arg) rs1875223959
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.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.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.834C>T (p.Thr278=)
NM_000277.3(PAH):c.835C>A (p.Pro279Thr) rs1555204441
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.837dup (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.838G>C (p.Glu280Gln) rs62508698
NM_000277.3(PAH):c.838_842+3del rs199475668
NM_000277.3(PAH):c.839A>C (p.Glu280Ala) rs62508734
NM_000277.3(PAH):c.839A>G (p.Glu280Gly) rs62508734
NM_000277.3(PAH):c.839_840insT (p.Glu280fs) rs199475653
NM_000277.3(PAH):c.841C>G (p.Pro281Ala) rs199475654
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+11T>C rs2499623052
NM_000277.3(PAH):c.842+1G>T rs5030852
NM_000277.3(PAH):c.842+20T>C rs1875214490
NM_000277.3(PAH):c.842+20T>G rs1875214490
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.842C>A (p.Pro281His) rs5030851
NM_000277.3(PAH):c.842C>G (p.Pro281Arg) rs5030851
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.913-2A>G rs1555203951
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-5T>G rs62507264
NM_000277.3(PAH):c.913-8A>C rs281865452
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.913-9C>T rs2136639713
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) rs2136639683
NM_000277.3(PAH):c.920del (p.Gly307fs) rs2136639687
NM_000277.3(PAH):c.921C>T (p.Gly307=) rs920882128
NM_000277.3(PAH):c.922C>A (p.Leu308Ile) rs62642095
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.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.927C>T (p.Ala309=) rs1449406538
NM_000277.3(PAH):c.929C>A (p.Ser310Tyr) rs62642913
NM_000277.3(PAH):c.929C>G (p.Ser310Cys) rs62642913
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) rs62651568
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000277.3(PAH):c.934G>A (p.Gly312Ser)
NM_000277.3(PAH):c.934G>C (p.Gly312Arg) rs763115697
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.935G>T (p.Gly312Val) rs62642915
NM_000277.3(PAH):c.935del (p.Gly312fs) rs2136639639
NM_000277.3(PAH):c.936T>A (p.Gly312=) rs776778122
NM_000277.3(PAH):c.936T>C (p.Gly312=) rs776778122
NM_000277.3(PAH):c.938C>A (p.Ala313Glu) rs62642914
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650
NM_000277.3(PAH):c.940C>T (p.Pro314Ser) rs199475650
NM_000277.3(PAH):c.941del (p.Pro314fs) rs62642907
NM_000277.3(PAH):c.945T>A (p.Asp315Glu) rs1180470263
NM_000277.3(PAH):c.946G>T (p.Glu316Ter) rs2499617367
NM_000277.3(PAH):c.947A>T (p.Glu316Val) rs1874873096
NM_000277.3(PAH):c.950A>G (p.Tyr317Cys) rs2136639547
NM_000277.3(PAH):c.951C>T (p.Tyr317=) rs2136639538
NM_000277.3(PAH):c.952A>G (p.Ile318Val) rs1013968856
NM_000277.3(PAH):c.953T>C (p.Ile318Thr) rs62642918
NM_000277.3(PAH):c.954T>C (p.Ile318=) rs2136639524
NM_000277.3(PAH):c.955G>T (p.Glu319Ter) rs398123294
NM_000277.3(PAH):c.956A>G (p.Glu319Gly) rs1592949408
NM_000277.3(PAH):c.957_958insTT (p.Lys320fs) rs2499617336
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.961C>A (p.Leu321Ile) rs2499617328
NM_000277.3(PAH):c.964G>T (p.Ala322Ser) rs62514957
NM_000277.3(PAH):c.965C>T (p.Ala322Val)
NM_000277.3(PAH):c.968C>T (p.Thr323Ile) rs1874870478
NM_000277.3(PAH):c.969+14C>G rs778297013
NM_000277.3(PAH):c.969+14C>T rs778297013
NM_000277.3(PAH):c.969+16C>A
NM_000277.3(PAH):c.969+18C>T rs1348193114
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.969+2T>G rs1477313214
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.969+9C>G rs1448283369
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.970-10T>C rs1485782102
NM_000277.3(PAH):c.970-19G>A
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.970-5T>A rs62507273
NM_000277.3(PAH):c.970-6T>G rs62507274
NM_000277.3(PAH):c.970-7A>G rs745670264
NM_000277.3(PAH):c.970-7A>T rs745670264
NM_000277.3(PAH):c.971T>A (p.Ile324Asn) rs2499615233
NM_000277.3(PAH):c.973_976del (p.Tyr325fs) rs2499615219
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.978G>A (p.Trp326Ter) rs1555203761
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.98G>T (p.Gly33Val) rs2499542573
NM_000277.3(PAH):c.990G>A (p.Glu330=) rs62508580
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580
NM_000277.3(PAH):c.991T>C (p.Phe331Leu) rs62517179
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.993T>C (p.Phe331=) rs2499615169
NM_000277.3(PAH):c.995G>A (p.Gly332Glu) rs62508589
NM_000277.3(PAH):c.999C>T (p.Leu333=) rs777221457
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673
NM_001354304.2(PAH):c.-95-4071_-95-313del
Single allele

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.