ClinVar Miner

List of variants studied for Phenylketonuria

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Total variants: 1455
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
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 0.35009
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34771
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_000277.3(PAH):c.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.1155= (p.Leu385=) rs772897 0.15047
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.-81C>T rs7954004 0.02852
NM_000277.2(PAH):c.-147C>T rs62517177 0.02849
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.*650A>G rs180991851 0.00256
NM_000277.3(PAH):c.1315+20C>T rs190655222 0.00250
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00229
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.*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 0.00069
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.969+20G>A rs201083544 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.969+7C>T rs80324017 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.-104C>T rs767107144 0.00028
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.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000277.3(PAH):c.*272C>T rs928972999 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000277.3(PAH):c.*79G>A rs569495604 0.00016
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
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.509+21G>T rs191700258 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.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.1045T>C (p.Ser349Pro) rs62508646 0.00008
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.65C>A (p.Thr22Lys) rs199565868 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.896T>G (p.Phe299Cys) rs62642933 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.438C>T (p.His146=) rs191142120 0.00006
NM_000277.3(PAH):c.804C>T (p.Tyr268=) rs748337823 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.1010G>A (p.Gly337Glu) rs62517206 0.00004
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe) rs951540129 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.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 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.925G>T (p.Ala309Ser) rs1205657950 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000277.3(PAH):c.-66_-65del rs997821067 0.00003
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.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.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.428A>T (p.Asp143Val) rs199475572 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.886G>A (p.Asp296Asn) rs765934604 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.894C>T (p.Ser298=) rs765823928 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 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.1098C>A (p.Pro366=) rs776159017 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.12G>A (p.Ala4=) rs536605300 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.441+15C>T rs187133779 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.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.642A>G (p.Glu214=) rs373782868 0.00002
NM_000277.3(PAH):c.74T>C (p.Ile25Thr) rs1355039694 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000277.3(PAH):c.861G>A (p.Leu287=) rs754686336 0.00002
NM_000277.3(PAH):c.870T>C (p.His290=) rs751203209 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.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.1066-5T>C rs910131541 0.00001
NM_000277.3(PAH):c.1066-9G>A rs750730715 0.00001
NM_000277.3(PAH):c.1095C>G (p.Leu365=) rs747661840 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.1124A>G (p.Gln375Arg) rs1874694173 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.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1200G>T (p.Arg400Ser) rs1874549626 0.00001
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899 0.00001
NM_000277.3(PAH):c.1251C>T (p.Tyr417=) rs1272159852 0.00001
NM_000277.3(PAH):c.1254C>T (p.Thr418=) rs755787172 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.1299G>A (p.Leu433=) rs770034263 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.135T>G (p.Val45=) rs773425620 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.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.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.223G>A (p.Asp75Asn) rs767453024 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.275C>T (p.Thr92Ile) rs62514903 0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677 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.352+10A>G rs559561517 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.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.442-5C>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.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.509+18G>T rs749428436 0.00001
NM_000277.3(PAH):c.509+9G>A rs1392904247 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.513G>T (p.Gly171=) rs143211522 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.569T>C (p.Val190Ala) rs62514919 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.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.63A>C (p.Glu21Asp) rs753466976 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.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.702G>A (p.Leu234=) rs993558609 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610 0.00001
NM_000277.3(PAH):c.737del (p.Ala246fs) rs199475666 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.771C>T (p.Gly257=) rs544995045 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.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.825C>T (p.Pro275=) rs1875223145 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.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.848T>A (p.Ile283Asn) rs62508693 0.00001
NM_000277.3(PAH):c.859C>A (p.Leu287Met) rs781096854 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.936T>C (p.Gly312=) rs776778122 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+12C>T rs1874869257 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.970-10T>C rs1485782102 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
NC_000012.11:g.(?_103232953)_(103240749_?)del
NC_000012.11:g.(?_103232953)_(103310908_?)dup
NC_000012.11:g.(?_103232953)_(103352733_?)del
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.(?_103288493)_(103352733_?)dup
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.(?_102917061)_(102917140_?)del
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp) rs2144563979
NM_000277.1(PAH):c.1200-1delG rs63186960
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.1:c.[722delG;c.735G>A]
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-232C>G rs886048893
NM_000277.2(PAH):c.-460delG rs113191080
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.(?_169)_352+?del
NM_000277.3(PAH):c.*772_*775del rs551502562
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)
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)
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) rs1169310686
NM_000277.3(PAH):c.1013A>T (p.Asp338Val)
NM_000277.3(PAH):c.1016C>T (p.Ser339Phe)
NM_000277.3(PAH):c.1017C>T (p.Ser339=)
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>A (p.Lys341=)
NM_000277.3(PAH):c.1023G>C (p.Lys341Asn)
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=)
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.1029T>A (p.Tyr343Ter) rs1874735553
NM_000277.3(PAH):c.1029T>C (p.Tyr343=)
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.1032T>C (p.Gly344=)
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
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)
NM_000277.3(PAH):c.1050C>A (p.Ser350=)
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
NM_000277.3(PAH):c.1065+16G>A
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
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+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
NM_000277.3(PAH):c.1065+8C>A
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
NM_000277.3(PAH):c.1066-16C>T
NM_000277.3(PAH):c.1066-19T>G
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
NM_000277.3(PAH):c.1066-5T>G
NM_000277.3(PAH):c.1066-7C>A rs1242756437
NM_000277.3(PAH):c.1066-7C>T rs1242756437
NM_000277.3(PAH):c.1066-8G>C
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>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.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.1080G>A (p.Glu360=)
NM_000277.3(PAH):c.1081A>C (p.Lys361Gln) rs772918939
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
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)
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
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=)
NM_000277.3(PAH):c.1095C>T (p.Leu365=) rs747661840
NM_000277.3(PAH):c.1096C>G (p.Pro366Ala)
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser) rs2136635839
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1098C>G (p.Pro366=)
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.1108del (p.Glu370fs)
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.110T>C (p.Leu37Pro) rs869312996
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
NM_000277.3(PAH):c.1111_1117del (p.Lys371fs)
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) rs62507268
NM_000277.3(PAH):c.1113G>A (p.Lys371=)
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)
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.1120A>G (p.Ile374Val) rs769076484
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
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.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1143G>A (p.Glu381=) rs2136635626
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=)
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)
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>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1158T>C (p.Tyr386=) rs2136635574
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.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=)
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.1170G>A (p.Glu390=) rs2136635531
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)
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.1179_1180del (p.Asn393fs)
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr) rs62516142
NM_000277.3(PAH):c.1180del (p.Asp394fs) rs1555203666
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) rs62516102
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp) rs62508736
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg) rs776178623
NM_000277.3(PAH):c.1189G>T (p.Glu397Ter)
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
NM_000277.3(PAH):c.1199+19T>C
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+20G>C rs62509018
NM_000277.3(PAH):c.1199+2T>G rs62508737
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>T rs62508674
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.1199+88C>T
NM_000277.3(PAH):c.1199+9G>C
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.1200-16G>A
NM_000277.3(PAH):c.1200-17T>G
NM_000277.3(PAH):c.1200-19C>A
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.1200-8G>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)
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser)
NM_000277.3(PAH):c.1215A>G (p.Thr405=)
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.1221T>G (p.Pro407=)
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)
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)
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.1245C>T (p.Asp415=)
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.1247del (p.Pro416fs)
NM_000277.3(PAH):c.1248A>C (p.Pro416=) rs1874540728
NM_000277.3(PAH):c.1248A>G (p.Pro416=)
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)
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.1258A>G (p.Arg420Gly)
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=)
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.127del (p.Glu43fs) rs2136728245
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1282del (p.Gln428fs) rs2136631967
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.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.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1305T>C (p.Asp435=)
NM_000277.3(PAH):c.1306del (p.Ser436fs) rs1874535712
NM_000277.3(PAH):c.130G>T (p.Glu44Ter)
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
NM_000277.3(PAH):c.1315+13C>T
NM_000277.3(PAH):c.1315+14del
NM_000277.3(PAH):c.1315+16C>A
NM_000277.3(PAH):c.1315+17T>C
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
NM_000277.3(PAH):c.1315+9T>C rs199979357
NM_000277.3(PAH):c.1316-11T>C
NM_000277.3(PAH):c.1316-17G>A
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.1316-8C>A rs2136630870
NM_000277.3(PAH):c.1316-9T>C
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)
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)
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.137del (p.Gly46fs) rs199475591
NM_000277.3(PAH):c.13del (p.Val5fs) rs1592991243
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)
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
NM_000277.3(PAH):c.153A>T (p.Val51=) rs2136728110
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) rs199475630
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000277.3(PAH):c.157C>A (p.Arg53Ser) 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.168+13A>G
NM_000277.3(PAH):c.168+14T>C
NM_000277.3(PAH):c.168+17T>C
NM_000277.3(PAH):c.168+18G>T
NM_000277.3(PAH):c.168+19T>G
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>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>C rs536596014
NM_000277.3(PAH):c.169-10T>G rs536596014
NM_000277.3(PAH):c.169-16_169-15del
NM_000277.3(PAH):c.169-18C>A
NM_000277.3(PAH):c.169-1G>A rs1877439517
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
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=)
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=)
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.199T>G (p.Ser67Ala) rs5030842
NM_000277.3(PAH):c.1A>T (p.Met1Leu) rs62514891
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
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=)
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) rs199475678
NM_000277.3(PAH):c.206C>T (p.Pro69Leu)
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.211C>T (p.Arg71Cys)
NM_000277.3(PAH):c.212G>C (p.Arg71Pro) rs62508695
NM_000277.3(PAH):c.214T>G (p.Leu72Val)
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.228G>A (p.Glu76=)
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
NM_000277.3(PAH):c.22A>G (p.Asn8Asp)
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.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.23A>C (p.Asn8Thr) rs1878414153
NM_000277.3(PAH):c.23del (p.Asn8fs)
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)
NM_000277.3(PAH):c.253A>T (p.Lys85Ter) rs1877430029
NM_000277.3(PAH):c.256del (p.Arg86fs)
NM_000277.3(PAH):c.257G>A (p.Arg86His)
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=)
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
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)
NM_000277.3(PAH):c.27A>C (p.Pro9=)
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.291C>T (p.Ile97=) rs2136701670
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.295A>G (p.Arg99Gly) rs2136701651
NM_000277.3(PAH):c.297G>A (p.Arg99=)
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.303C>T (p.Asp101=)
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)
NM_000277.3(PAH):c.312C>T (p.Ala104=)
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.330A>G (p.Ser110=)
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
NM_000277.3(PAH):c.338_341del (p.Lys113fs)
NM_000277.3(PAH):c.339G>A (p.Lys113=)
NM_000277.3(PAH):c.339GAA[1] (p.Lys115del) rs1555207969
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)
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.352+10A>C rs559561517
NM_000277.3(PAH):c.352+16A>G
NM_000277.3(PAH):c.352+1G>A rs199475684
NM_000277.3(PAH):c.352+2dup rs1057516604
NM_000277.3(PAH):c.352+7A>C
NM_000277.3(PAH):c.352+7A>T rs2136701430
NM_000277.3(PAH):c.353-14T>C
NM_000277.3(PAH):c.353-16C>T
NM_000277.3(PAH):c.353-18G>A
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>G rs1876628624
NM_000277.3(PAH):c.353-2A>T
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.355C>T (p.Pro119Ser) rs398123292
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)
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)
NM_000277.3(PAH):c.365del (p.Pro122fs) rs1876626818
NM_000277.3(PAH):c.366A>G (p.Pro122=)
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.371C>A (p.Thr124Asn)
NM_000277.3(PAH):c.375T>C (p.Ile125=) rs1028484259
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=)
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
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.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.39G>A (p.Arg13=)
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.419C>T (p.Ala140Val)
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=)
NM_000277.3(PAH):c.435C>T (p.Asp145=)
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)
NM_000277.3(PAH):c.441+10T>C
NM_000277.3(PAH):c.441+12G>A rs767307581
NM_000277.3(PAH):c.441+16G>A
NM_000277.3(PAH):c.441+16G>T
NM_000277.3(PAH):c.441+18del
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+20G>T
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.441+8C>T rs777613969
NM_000277.3(PAH):c.442-10T>C
NM_000277.3(PAH):c.442-1377_509+226del
NM_000277.3(PAH):c.442-14C>G
NM_000277.3(PAH):c.442-17T>C
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.442-4C>G rs987125136
NM_000277.3(PAH):c.442-4C>T
NM_000277.3(PAH):c.442-7C>A
NM_000277.3(PAH):c.442-7C>T
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.44T>A (p.Leu15His) rs1319374413
NM_000277.3(PAH):c.44T>G (p.Leu15Arg)
NM_000277.3(PAH):c.450dup (p.Asp151fs)
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)
NM_000277.3(PAH):c.45C>G (p.Leu15=)
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.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.465T>C (p.Arg155=)
NM_000277.3(PAH):c.466G>C (p.Ala156Pro) rs199475686
NM_000277.3(PAH):c.467C>G (p.Ala156Gly) rs570748767
NM_000277.3(PAH):c.467C>T (p.Ala156Val) rs570748767
NM_000277.3(PAH):c.467del (p.Ala156fs)
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) rs62642946
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>G (p.Arg157=)
NM_000277.3(PAH):c.472C>G (p.Arg158Gly)
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=)
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
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.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)
NM_000277.3(PAH):c.494C>A (p.Ala165Asp) rs1592961381
NM_000277.3(PAH):c.495C>T (p.Ala165=) rs1875979842
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.504C>T (p.Tyr168=)
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)
NM_000277.3(PAH):c.509+15C>T
NM_000277.3(PAH):c.509+17T>C
NM_000277.3(PAH):c.509+19T>C
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.509+9del
NM_000277.3(PAH):c.509A>C (p.His170Pro) rs199475573
NM_000277.3(PAH):c.510-10T>C rs1256834291
NM_000277.3(PAH):c.510-14T>C
NM_000277.3(PAH):c.510-16T>G rs2136649964
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.510-20A>G
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>G rs62507281
NM_000277.3(PAH):c.510-735_912+434del
NM_000277.3(PAH):c.510-7A>G
NM_000277.3(PAH):c.510-8T>C
NM_000277.3(PAH):c.510-9G>A
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.512G>C (p.Gly171Ala) rs199475596
NM_000277.3(PAH):c.514C>T (p.Gln172Ter) rs199475588
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
NM_000277.3(PAH):c.516G>C (p.Gln172His) rs192592111
NM_000277.3(PAH):c.521T>A (p.Ile174Asn)
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=)
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.535T>C (p.Tyr179His) rs199475671
NM_000277.3(PAH):c.535_536del (p.Tyr179fs)
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=)
NM_000277.3(PAH):c.544G>A (p.Glu182Lys) rs2136649777
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.54T>C (p.Phe18=) rs1878411076
NM_000277.3(PAH):c.551del (p.Lys184fs) rs1875371722
NM_000277.3(PAH):c.552_554del (p.Lys185del)
NM_000277.3(PAH):c.553A>G (p.Lys185Glu)
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)
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.557C>T (p.Thr186Ile) rs1875371404
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.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)
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer) rs2136649605
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
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+10G>A rs1878409841
NM_000277.3(PAH):c.60+12C>T
NM_000277.3(PAH):c.60+17T>A
NM_000277.3(PAH):c.60+19A>G
NM_000277.3(PAH):c.60+1G>C rs1555209932
NM_000277.3(PAH):c.60+2del
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+7_60+12del
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.603T>G (p.His201Gln) rs751977644
NM_000277.3(PAH):c.604G>A (p.Ala202Thr)
NM_000277.3(PAH):c.605C>T (p.Ala202Val) rs2136649533
NM_000277.3(PAH):c.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
NM_000277.3(PAH):c.61-13T>C
NM_000277.3(PAH):c.61-15C>A
NM_000277.3(PAH):c.61-15C>T
NM_000277.3(PAH):c.61-17T>C
NM_000277.3(PAH):c.61-19A>G
NM_000277.3(PAH):c.61-3T>C rs1878260066
NM_000277.3(PAH):c.61-4G>A
NM_000277.3(PAH):c.61-4del
NM_000277.3(PAH):c.61-6C>T rs2136728439
NM_000277.3(PAH):c.61-9A>C
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>G (p.Glu205Gly) rs62508593
NM_000277.3(PAH):c.615G>A (p.Glu205=)
NM_000277.3(PAH):c.615G>C (p.Glu205Asp) rs765552494
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)
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.626T>C (p.Ile209Thr)
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)
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.640G>T (p.Glu214Ter)
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
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)
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)
NM_000277.3(PAH):c.656T>C (p.Phe219Ser) rs1164279708
NM_000277.3(PAH):c.657C>T (p.Phe219=)
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>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.669C>T (p.Asn223=) rs1875356807
NM_000277.3(PAH):c.669del (p.Asn223fs)
NM_000277.3(PAH):c.66A>C (p.Thr22=) rs2136728416
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.673C>G (p.Pro225Ala) rs199475589
NM_000277.3(PAH):c.674C>T (p.Pro225Leu) rs62517204
NM_000277.3(PAH):c.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)
NM_000277.3(PAH):c.678G>C (p.Gln226His) rs62508615
NM_000277.3(PAH):c.679C>G (p.Leu227Val) rs2136649242
NM_000277.3(PAH):c.679C>T (p.Leu227=)
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.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)
NM_000277.3(PAH):c.693del (p.Gln232fs)
NM_000277.3(PAH):c.694C>G (p.Gln232Glu) rs62507348
NM_000277.3(PAH):c.694_696delinsTAA (p.Gln232Ter)
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
NM_000277.3(PAH):c.706+11A>T
NM_000277.3(PAH):c.706+12T>G
NM_000277.3(PAH):c.706+19C>A
NM_000277.3(PAH):c.706+368T>C rs2136648640
NM_000277.3(PAH):c.706+531T>C
NM_000277.3(PAH):c.706+5G>A rs1331362460
NM_000277.3(PAH):c.706+608A>C
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
NM_000277.3(PAH):c.707-12T>C
NM_000277.3(PAH):c.707-12_711del rs1555204492
NM_000277.3(PAH):c.707-17_707-14del
NM_000277.3(PAH):c.707-18T>C rs779692890
NM_000277.3(PAH):c.707-18T>G
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
NM_000277.3(PAH):c.707-2del rs1592953143
NM_000277.3(PAH):c.707-4C>A
NM_000277.3(PAH):c.707-59C>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)
NM_000277.3(PAH):c.714T>A (p.Thr238=) rs2136646476
NM_000277.3(PAH):c.714T>C (p.Thr238=)
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.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.719T>C (p.Phe240Ser) rs62508594
NM_000277.3(PAH):c.720C>T (p.Phe240=)
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)
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=)
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)
NM_000277.3(PAH):c.734T>A (p.Val245Glu) rs76212747
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.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.740del (p.Gly247fs) rs2136646337
NM_000277.3(PAH):c.742C>T (p.Leu248=)
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)
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.752C>T (p.Ser251Phe)
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=)
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.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.75T>C (p.Ile25=) rs1592988950
NM_000277.3(PAH):c.75del (p.Ile25fs)
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.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.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.776C>G (p.Ala259Gly)
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.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.789C>T (p.Phe263=)
NM_000277.3(PAH):c.78del (p.Asp27fs)
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)
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>T (p.Thr266Ile)
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>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=)
NM_000277.3(PAH):c.808A>G (p.Arg270Gly) rs199475690
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del)
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)
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=)
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.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>C (p.Met276Thr)
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.835C>A (p.Pro279Thr)
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)
NM_000277.3(PAH):c.838G>C (p.Glu280Gln) rs62508698
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
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
NM_000277.3(PAH):c.842+1G>T rs5030852
NM_000277.3(PAH):c.842+20T>C
NM_000277.3(PAH):c.842+20T>G
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.843-11C>G
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.843-8T>C rs2136645006
NM_000277.3(PAH):c.843-9G>C rs2136645008
NM_000277.3(PAH):c.843T>A (p.Pro281=)
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.845A>G (p.Asp282Gly) rs199475660
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.858G>A (p.Glu286=) rs556021587
NM_000277.3(PAH):c.861G>T (p.Leu287=) rs754686336
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.867A>T (p.Gly289=)
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>A (p.His290Gln)
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.873_880del (p.Pro292fs)
NM_000277.3(PAH):c.876C>A (p.Pro292=)
NM_000277.3(PAH):c.878del (p.Leu293fs)
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
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.888T>C (p.Asp296=)
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.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
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.901del (p.Gln301fs)
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+15T>G
NM_000277.3(PAH):c.912+16T>A rs1875152576
NM_000277.3(PAH):c.912+18dup
NM_000277.3(PAH):c.912+1G>C rs62514956
NM_000277.3(PAH):c.912+1G>T rs62514956
NM_000277.3(PAH):c.912+20G>T
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912+9T>C
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-18A>G
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>C
NM_000277.3(PAH):c.913-8A>C
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)
NM_000277.3(PAH):c.920del (p.Gly307fs) rs2136639687
NM_000277.3(PAH):c.921C>T (p.Gly307=) rs920882128
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>G (p.Ser310Cys)
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.930T>C (p.Ser310=)
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>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.938C>A (p.Ala313Glu) rs62642914
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.945T>A (p.Asp315Glu) rs1180470263
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)
NM_000277.3(PAH):c.947A>T (p.Glu316Val) rs1874873096
NM_000277.3(PAH):c.949T>C (p.Tyr317His) rs1874872863
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)
NM_000277.3(PAH):c.954T>C (p.Ile318=) rs2136639524
NM_000277.3(PAH):c.957_958insTT (p.Lys320fs)
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.968C>T (p.Thr323Ile) rs1874870478
NM_000277.3(PAH):c.969+14C>G
NM_000277.3(PAH):c.969+14C>T
NM_000277.3(PAH):c.969+16C>T
NM_000277.3(PAH):c.969+18C>T
NM_000277.3(PAH):c.969+19T>C
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.970-1G>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.970-7A>T rs745670264
NM_000277.3(PAH):c.971T>A (p.Ile324Asn)
NM_000277.3(PAH):c.973_976del (p.Tyr325fs)
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.98G>T (p.Gly33Val)
NM_000277.3(PAH):c.990G>A (p.Glu330=)
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) rs199475614
NM_000277.3(PAH):c.993T>C (p.Phe331=)
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
NM_000277.3(PAH):c.999C>G (p.Leu333=) rs777221457
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
NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del) rs3832799
NM_017739.4(POMGNT1):c.1838G>A (p.Arg613Lys)
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) rs201395198
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)

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