NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
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.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)
|
rs62507348
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)
|
rs62508693
|
0.00001
|
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)
|
rs199475693
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)
|
rs62642095
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.997C>T (p.Leu333Phe)
|
rs62516060
|
0.00001
|
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
|
|
|
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
|
|
|
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)
|
rs62516061
|
|
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)
|
rs62517200
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter)
|
rs1874735553
|
|
NM_000277.3(PAH):c.1038del (p.Leu347fs)
|
rs62516063
|
|
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs)
|
rs199475600
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1056del (p.Glu353fs)
|
rs62507350
|
|
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)
|
rs199475633
|
|
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.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1071C>A (p.Cys357Ter)
|
rs766107583
|
|
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)
|
rs5030854
|
|
NM_000277.3(PAH):c.1078G>T (p.Glu360Ter)
|
rs2136635903
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1099dup (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)
|
rs62516099
|
|
NM_000277.3(PAH):c.111dup (p.Ile38fs)
|
rs199475674
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.1129del (p.Tyr377fs)
|
rs62642941
|
|
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.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter)
|
rs149595475
|
|
NM_000277.3(PAH):c.1162G>C (p.Val388Leu)
|
rs62516101
|
|
NM_000277.3(PAH):c.1163_1164del (p.Val388fs)
|
rs199475629
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)
|
rs1429055740
|
|
NM_000277.3(PAH):c.1176dup (p.Asn393Ter)
|
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>T
|
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
NM_000277.3(PAH):c.1200-1G>C
|
rs62507322
|
|
NM_000277.3(PAH):c.1200-2A>C
|
rs1592945607
|
|
NM_000277.3(PAH):c.1200-2A>G
|
rs1592945607
|
|
NM_000277.3(PAH):c.1215_1219del (p.Ile406fs)
|
rs1874547168
|
|
NM_000277.3(PAH):c.121C>T (p.Leu41Phe)
|
rs62642928
|
|
NM_000277.3(PAH):c.1232C>G (p.Ser411Ter)
|
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
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.1252A>C (p.Thr418Pro)
|
rs62644501
|
|
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter)
|
rs199475670
|
|
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)
|
rs1555209575
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1314_1315+4del
|
rs1334974448
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.1316-1G>A
|
rs1592944816
|
|
NM_000277.3(PAH):c.1316-2A>C
|
rs760830761
|
|
NM_000277.3(PAH):c.137del (p.Gly46fs)
|
rs199475591
|
|
NM_000277.3(PAH):c.13del (p.Val5fs)
|
rs1592991243
|
|
NM_000277.3(PAH):c.155del (p.Leu52fs)
|
rs281865165
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+2T>C
|
rs1025860114
|
|
NM_000277.3(PAH):c.168G>T (p.Glu56Asp)
|
rs199475567
|
|
NM_000277.3(PAH):c.169-1G>A
|
rs1877439517
|
|
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)
|
rs140945592
|
|
NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer)
|
rs1592979013
|
|
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.189_190dup (p.His64fs)
|
rs672601294
|
|
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.196G>T (p.Glu66Ter)
|
rs281865454
|
|
NM_000277.3(PAH):c.197_204del (p.Glu66fs)
|
rs2136702049
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.1A>T (p.Met1Leu)
|
rs62514891
|
|
NM_000277.3(PAH):c.202A>G (p.Arg68Gly)
|
rs199475639
|
|
NM_000277.3(PAH):c.206dup (p.Ser70fs)
|
rs1592978901
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter)
|
rs62507332
|
|
NM_000277.3(PAH):c.241_256del (p.Thr81fs)
|
rs63749677
|
|
NM_000277.3(PAH):c.253A>T (p.Lys85Ter)
|
rs1877430029
|
|
NM_000277.3(PAH):c.266_267insG (p.Ala90fs)
|
rs1592978760
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.277_280del (p.Asn93fs)
|
|
|
NM_000277.3(PAH):c.280_283del (p.Ile94fs)
|
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.2T>G (p.Met1Arg)
|
rs62508575
|
|
NM_000277.3(PAH):c.30dup (p.Arg13fs)
|
rs1592991220
|
|
NM_000277.3(PAH):c.324_328del (p.Glu108fs)
|
rs1877424058
|
|
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)
|
rs1346707834
|
|
NM_000277.3(PAH):c.338_341del (p.Lys113fs)
|
|
|
NM_000277.3(PAH):c.344_347del (p.Lys115fs)
|
rs199475648
|
|
NM_000277.3(PAH):c.346_347del (p.Asp116fs)
|
rs1592978629
|
|
NM_000277.3(PAH):c.350del (p.Thr117fs)
|
rs281865428
|
|
NM_000277.3(PAH):c.353-2A>G
|
rs1876628624
|
|
NM_000277.3(PAH):c.353-2A>T
|
|
|
NM_000277.3(PAH):c.353-6T>A
|
rs62517195
|
|
NM_000277.3(PAH):c.359G>A (p.Trp120Ter)
|
rs199475586
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.3G>A (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.43_44insAG (p.Leu15fs)
|
rs1592991196
|
|
NM_000277.3(PAH):c.441+1G>C
|
rs62517166
|
|
NM_000277.3(PAH):c.441+2T>A
|
rs1876618843
|
|
NM_000277.3(PAH):c.441+2T>G
|
rs1876618843
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.442-1377_509+226del
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.442-1G>C
|
rs62514907
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.442-2A>G
|
|
|
NM_000277.3(PAH):c.442-4403_509+883del
|
|
|
NM_000277.3(PAH):c.443_509+1del
|
rs199475649
|
|
NM_000277.3(PAH):c.456_463dup (p.Arg155fs)
|
rs2136663420
|
|
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)
|
rs1191473722
|
|
NM_000277.3(PAH):c.463del (p.Arg155fs)
|
rs1875984331
|
|
NM_000277.3(PAH):c.466G>C (p.Ala156Pro)
|
rs199475686
|
|
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.47_48dup (p.Asp17fs)
|
|
|
NM_000277.3(PAH):c.47_48insCT (p.Asp17fs)
|
rs1592991184
|
|
NM_000277.3(PAH):c.48dup (p.Asp17Ter)
|
rs1592991176
|
|
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
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.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.510-19_667del
|
|
|
NM_000277.3(PAH):c.510-1G>A
|
rs1875377960
|
|
NM_000277.3(PAH):c.510-1G>C
|
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510-735_912+434del
|
|
|
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)
|
rs199475588
|
|
NM_000277.3(PAH):c.521T>C (p.Ile174Thr)
|
rs138809906
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.551del (p.Lys184fs)
|
rs1875371722
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.584dup (p.Ser196fs)
|
rs1875368328
|
|
NM_000277.3(PAH):c.586_608del (p.Ser196fs)
|
rs62895363
|
|
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.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.60+5G>C
|
rs62514895
|
|
NM_000277.3(PAH):c.607dup (p.Cys203fs)
|
rs1875366372
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.667_674dup (p.Gln226fs)
|
rs2136649263
|
|
NM_000277.3(PAH):c.669del (p.Asn223fs)
|
|
|
NM_000277.3(PAH):c.682G>T (p.Glu228Ter)
|
rs281865444
|
|
NM_000277.3(PAH):c.686dup (p.Asp229fs)
|
rs1565848110
|
|
NM_000277.3(PAH):c.690_691insG (p.Ser231fs)
|
rs1875354018
|
|
NM_000277.3(PAH):c.697T>A (p.Phe233Ile)
|
rs1565848061
|
|
NM_000277.3(PAH):c.699C>A (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.699C>G (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.703C>T (p.Gln235Ter)
|
rs1237792711
|
|
NM_000277.3(PAH):c.707-1G>A
|
rs62507269
|
|
NM_000277.3(PAH):c.707-1G>C
|
rs62507269
|
|
NM_000277.3(PAH):c.707-2A>G
|
rs62514938
|
|
NM_000277.3(PAH):c.707-2del
|
rs1592953143
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.733G>A (p.Val245Met)
|
rs62508694
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.740del (p.Gly247fs)
|
rs2136646337
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.753_754del (p.Arg252fs)
|
rs2136646297
|
|
NM_000277.3(PAH):c.753del (p.Arg252fs)
|
rs2136646301
|
|
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)
|
rs5030847
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.75del (p.Ile25fs)
|
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.788T>C (p.Phe263Ser)
|
rs1565846863
|
|
NM_000277.3(PAH):c.795C>A (p.Cys265Ter)
|
rs1231529155
|
|
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.804C>A (p.Tyr268Ter)
|
rs748337823
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.810_814del (p.His271fs)
|
rs62507286
|
|
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
|
rs199475581
|
|
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)
|
rs62508691
|
|
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)
|
rs62508715
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
NM_000277.3(PAH):c.837del (p.Glu280fs)
|
rs281865429
|
|
NM_000277.3(PAH):c.839_840insT (p.Glu280fs)
|
rs199475653
|
|
NM_000277.3(PAH):c.842+1G>T
|
rs5030852
|
|
NM_000277.3(PAH):c.842+2T>A
|
rs62514955
|
|
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.856G>A (p.Glu286Lys)
|
rs62508739
|
|
NM_000277.3(PAH):c.865G>C (p.Gly289Arg)
|
rs199475693
|
|
NM_000277.3(PAH):c.884C>G (p.Ser295Ter)
|
rs62642910
|
|
NM_000277.3(PAH):c.901C>T (p.Gln301Ter)
|
rs1057520732
|
|
NM_000277.3(PAH):c.902A>C (p.Gln301Pro)
|
rs1592952183
|
|
NM_000277.3(PAH):c.907del (p.Ser303fs)
|
rs62642920
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000277.3(PAH):c.912+1G>C
|
rs62514956
|
|
NM_000277.3(PAH):c.912+1G>T
|
rs62514956
|
|
NM_000277.3(PAH):c.912+2T>C
|
rs281865449
|
|
NM_000277.3(PAH):c.913-2A>G
|
rs1555203951
|
|
NM_000277.3(PAH):c.916del (p.Ile306fs)
|
rs281865456
|
|
NM_000277.3(PAH):c.920del (p.Gly307fs)
|
rs2136639687
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000277.3(PAH):c.935G>T (p.Gly312Val)
|
rs62642915
|
|
NM_000277.3(PAH):c.935del (p.Gly312fs)
|
rs2136639639
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
|
NM_000277.3(PAH):c.940C>T (p.Pro314Ser)
|
rs199475650
|
|
NM_000277.3(PAH):c.941del (p.Pro314fs)
|
rs62642907
|
|
NM_000277.3(PAH):c.969+5G>A
|
rs62508637
|
|
NM_000277.3(PAH):c.971T>A (p.Ile324Asn)
|
|
|
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
|
|