NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
NM_000143.4(FH):c.1237-7C>T
|
rs376260223
|
0.00022
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
NM_000143.4(FH):c.883G>A (p.Ala295Thr)
|
rs145843819
|
0.00018
|
NM_000143.4(FH):c.217G>A (p.Val73Met)
|
rs201878591
|
0.00010
|
NM_000143.4(FH):c.259C>T (p.Arg87Cys)
|
rs139642944
|
0.00006
|
NM_000143.4(FH):c.35G>T (p.Arg12Leu)
|
rs367826177
|
0.00006
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000143.4(FH):c.809A>G (p.Tyr270Cys)
|
rs202060616
|
0.00005
|
NM_000143.4(FH):c.994G>A (p.Ala332Thr)
|
rs1157768121
|
0.00005
|
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)
|
rs369802820
|
0.00004
|
NM_000143.4(FH):c.302G>A (p.Arg101Gln)
|
rs75086406
|
0.00004
|
NM_000143.4(FH):c.346A>T (p.Ile116Phe)
|
rs201532589
|
0.00004
|
NM_000143.4(FH):c.556-4A>G
|
rs370229813
|
0.00004
|
NM_000143.4(FH):c.580G>A (p.Ala194Thr)
|
rs587782215
|
0.00004
|
NM_000143.4(FH):c.917T>C (p.Val306Ala)
|
rs147991516
|
0.00004
|
NM_000143.4(FH):c.1462G>A (p.Glu488Lys)
|
rs201115573
|
0.00003
|
NM_000143.4(FH):c.305C>T (p.Ala102Val)
|
rs61753295
|
0.00003
|
NM_000143.4(FH):c.37C>A (p.Pro13Thr)
|
rs587778360
|
0.00003
|
NM_000143.4(FH):c.40C>T (p.Leu14Phe)
|
rs981562354
|
0.00003
|
NM_000143.4(FH):c.616G>A (p.Val206Ile)
|
rs763183520
|
0.00003
|
NM_000143.4(FH):c.685A>G (p.Ile229Val)
|
rs764065194
|
0.00003
|
NM_000143.4(FH):c.1049G>A (p.Arg350Gln)
|
rs749316923
|
0.00002
|
NM_000143.4(FH):c.1138A>G (p.Met380Val)
|
rs587778362
|
0.00002
|
NM_000143.4(FH):c.116C>T (p.Pro39Leu)
|
rs1415259326
|
0.00002
|
NM_000143.4(FH):c.260G>A (p.Arg87His)
|
rs200007371
|
0.00002
|
NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000143.4(FH):c.340C>A (p.Pro114Thr)
|
rs199539887
|
0.00002
|
NM_000143.4(FH):c.352A>G (p.Asn118Asp)
|
rs200738857
|
0.00002
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
0.00002
|
NM_000143.4(FH):c.451A>T (p.Met151Leu)
|
rs749752047
|
0.00002
|
NM_000143.4(FH):c.65T>G (p.Leu22Ter)
|
rs1031919395
|
0.00002
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
NM_000143.4(FH):c.772G>A (p.Ala258Thr)
|
rs751210164
|
0.00002
|
NM_000143.4(FH):c.797T>C (p.Met266Thr)
|
rs764648497
|
0.00002
|
NM_000143.4(FH):c.925C>T (p.Pro309Ser)
|
rs368849989
|
0.00002
|
NM_000143.4(FH):c.926C>T (p.Pro309Leu)
|
rs756528378
|
0.00002
|
NM_000143.4(FH):c.101C>T (p.Pro34Leu)
|
rs1398860901
|
0.00001
|
NM_000143.4(FH):c.1028G>A (p.Arg343Gln)
|
rs756990249
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000143.4(FH):c.104C>G (p.Ser35Trp)
|
rs942065027
|
0.00001
|
NM_000143.4(FH):c.104C>T (p.Ser35Leu)
|
rs942065027
|
0.00001
|
NM_000143.4(FH):c.1088C>G (p.Pro363Arg)
|
rs1483975363
|
0.00001
|
NM_000143.4(FH):c.1128G>T (p.Gln376His)
|
rs1467002768
|
0.00001
|
NM_000143.4(FH):c.1184C>T (p.Thr395Ile)
|
rs878853690
|
0.00001
|
NM_000143.4(FH):c.1195A>G (p.Ser399Gly)
|
rs1372936109
|
0.00001
|
NM_000143.4(FH):c.1199A>G (p.Asn400Ser)
|
rs764430466
|
0.00001
|
NM_000143.4(FH):c.1204C>T (p.His402Tyr)
|
rs760360724
|
0.00001
|
NM_000143.4(FH):c.1231A>G (p.Met411Val)
|
rs201381362
|
0.00001
|
NM_000143.4(FH):c.1236+5G>A
|
rs374494513
|
0.00001
|
NM_000143.4(FH):c.1259C>T (p.Ala420Val)
|
rs766377516
|
0.00001
|
NM_000143.4(FH):c.127C>G (p.Arg43Gly)
|
rs200496951
|
0.00001
|
NM_000143.4(FH):c.1291A>G (p.Thr431Ala)
|
rs1315943292
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.133-3T>C
|
rs1553341989
|
0.00001
|
NM_000143.4(FH):c.1347G>C (p.Met449Ile)
|
rs376502356
|
0.00001
|
NM_000143.4(FH):c.1348A>C (p.Asn450His)
|
rs1659742832
|
0.00001
|
NM_000143.4(FH):c.1390+6T>A
|
rs1338650106
|
0.00001
|
NM_000143.4(FH):c.1405G>A (p.Ala469Thr)
|
rs1060500906
|
0.00001
|
NM_000143.4(FH):c.1408A>G (p.Lys470Glu)
|
rs922905323
|
0.00001
|
NM_000143.4(FH):c.1426C>T (p.His476Tyr)
|
rs1484545927
|
0.00001
|
NM_000143.4(FH):c.1433A>G (p.Asn478Ser)
|
rs201886827
|
0.00001
|
NM_000143.4(FH):c.1441A>G (p.Thr481Ala)
|
rs1261707355
|
0.00001
|
NM_000143.4(FH):c.1447A>C (p.Lys483Gln)
|
rs1017406473
|
0.00001
|
NM_000143.4(FH):c.1471T>C (p.Tyr491His)
|
rs749713004
|
0.00001
|
NM_000143.4(FH):c.1472A>G (p.Tyr491Cys)
|
rs773801940
|
0.00001
|
NM_000143.4(FH):c.1477A>G (p.Thr493Ala)
|
rs777256203
|
0.00001
|
NM_000143.4(FH):c.1501G>A (p.Val501Ile)
|
rs201893992
|
0.00001
|
NM_000143.4(FH):c.154A>T (p.Ile52Leu)
|
rs543844061
|
0.00001
|
NM_000143.4(FH):c.167C>G (p.Thr56Ser)
|
rs1433872618
|
0.00001
|
NM_000143.4(FH):c.184G>A (p.Val62Met)
|
rs199894369
|
0.00001
|
NM_000143.4(FH):c.190A>G (p.Asn64Asp)
|
rs886046319
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.203A>G (p.Tyr68Cys)
|
rs1472397242
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000143.4(FH):c.219G>A (p.Val73=)
|
rs1213056420
|
0.00001
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.227C>T (p.Thr76Met)
|
rs778578307
|
0.00001
|
NM_000143.4(FH):c.230T>C (p.Met77Thr)
|
rs1250096728
|
0.00001
|
NM_000143.4(FH):c.267A>G (p.Pro89=)
|
rs1060500897
|
0.00001
|
NM_000143.4(FH):c.26C>G (p.Ala9Gly)
|
rs766915154
|
0.00001
|
NM_000143.4(FH):c.271C>G (p.Pro91Ala)
|
rs1171873052
|
0.00001
|
NM_000143.4(FH):c.28C>T (p.Arg10Cys)
|
rs201507555
|
0.00001
|
NM_000143.4(FH):c.292A>G (p.Ile98Val)
|
rs1660147766
|
0.00001
|
NM_000143.4(FH):c.294C>G (p.Ile98Met)
|
rs1573886484
|
0.00001
|
NM_000143.4(FH):c.317T>C (p.Val106Ala)
|
rs1382226356
|
0.00001
|
NM_000143.4(FH):c.31T>C (p.Ser11Pro)
|
rs1660323255
|
0.00001
|
NM_000143.4(FH):c.327T>G (p.Asp109Glu)
|
rs757312078
|
0.00001
|
NM_000143.4(FH):c.332G>A (p.Gly111Asp)
|
rs764340490
|
0.00001
|
NM_000143.4(FH):c.34C>T (p.Arg12Cys)
|
rs199912971
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.412C>G (p.Leu138Val)
|
rs1466082062
|
0.00001
|
NM_000143.4(FH):c.414C>T (p.Leu138=)
|
rs540968725
|
0.00001
|
NM_000143.4(FH):c.415G>A (p.Val139Met)
|
rs200343823
|
0.00001
|
NM_000143.4(FH):c.417G>A (p.Val139=)
|
rs768341401
|
0.00001
|
NM_000143.4(FH):c.41T>C (p.Leu14Pro)
|
rs1553342163
|
0.00001
|
NM_000143.4(FH):c.424C>G (p.Gln142Glu)
|
rs1355199594
|
0.00001
|
NM_000143.4(FH):c.43G>T (p.Val15Leu)
|
rs1463008959
|
0.00001
|
NM_000143.4(FH):c.460A>C (p.Asn154His)
|
rs1660099016
|
0.00001
|
NM_000143.4(FH):c.46C>T (p.Arg16Trp)
|
rs1324875131
|
0.00001
|
NM_000143.4(FH):c.492G>C (p.Met164Ile)
|
rs1370195868
|
0.00001
|
NM_000143.4(FH):c.49G>C (p.Ala17Pro)
|
rs755886213
|
0.00001
|
NM_000143.4(FH):c.589A>G (p.Ile197Val)
|
rs201764931
|
0.00001
|
NM_000143.4(FH):c.58G>A (p.Ala20Thr)
|
rs572324497
|
0.00001
|
NM_000143.4(FH):c.5A>G (p.Tyr2Cys)
|
rs1553342167
|
0.00001
|
NM_000143.4(FH):c.611A>T (p.His204Leu)
|
rs1060500898
|
0.00001
|
NM_000143.4(FH):c.628G>A (p.Gly210Arg)
|
rs949267641
|
0.00001
|
NM_000143.4(FH):c.62C>G (p.Ala21Gly)
|
rs1131691251
|
0.00001
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
NM_000143.4(FH):c.658G>A (p.Ala220Thr)
|
rs747135440
|
0.00001
|
NM_000143.4(FH):c.73G>A (p.Ala25Thr)
|
rs999146815
|
0.00001
|
NM_000143.4(FH):c.763G>A (p.Val255Ile)
|
rs752144845
|
0.00001
|
NM_000143.4(FH):c.775A>G (p.Met259Val)
|
rs1343775223
|
0.00001
|
NM_000143.4(FH):c.776T>C (p.Met259Thr)
|
rs1407485828
|
0.00001
|
NM_000143.4(FH):c.784A>G (p.Ile262Val)
|
rs199829765
|
0.00001
|
NM_000143.4(FH):c.788A>C (p.Lys263Thr)
|
rs765997824
|
0.00001
|
NM_000143.4(FH):c.800C>T (p.Pro267Leu)
|
rs1415140301
|
0.00001
|
NM_000143.4(FH):c.805A>G (p.Ile269Val)
|
rs377015873
|
0.00001
|
NM_000143.4(FH):c.80G>C (p.Gly27Ala)
|
rs1339215584
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000143.4(FH):c.830C>G (p.Thr277Ser)
|
rs1553341160
|
0.00001
|
NM_000143.4(FH):c.853A>G (p.Thr285Ala)
|
rs200791185
|
0.00001
|
NM_000143.4(FH):c.889G>A (p.Val297Met)
|
rs1245254230
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000143.4(FH):c.909G>C (p.Leu303Phe)
|
rs1659857850
|
0.00001
|
NM_000143.4(FH):c.961C>G (p.Leu321Val)
|
rs763077972
|
0.00001
|
NM_000143.4(FH):c.974G>C (p.Ser325Thr)
|
rs1423324601
|
0.00001
|
NM_000143.4(FH):c.986A>G (p.Asn329Ser)
|
rs768483509
|
0.00001
|
NM_000143.4(FH):c.98T>G (p.Val33Gly)
|
rs1319755767
|
0.00001
|
NC_000001.10:g.(?_241661128)_(241667555_?)dup
|
|
|
NC_000001.10:g.(?_241661128)_(241677023_?)dup
|
|
|
NC_000001.10:g.(?_241669293)_(241683022_?)dup
|
|
|
NC_000001.10:g.(?_241677041)_(241680477_?)del
|
|
|
NC_000001.11:g.(?_241517172)_(241519722_?)dup
|
|
|
NM_000143.3(FH):c.695G>A (p.Gly232Glu)
|
rs727503929
|
|
NM_000143.4(FH):c.1000A>G (p.Ser334Gly)
|
rs587782216
|
|
NM_000143.4(FH):c.1003C>G (p.Leu335Val)
|
rs1203364199
|
|
NM_000143.4(FH):c.100C>T (p.Pro34Ser)
|
rs1191023697
|
|
NM_000143.4(FH):c.1012A>C (p.Ile338Leu)
|
|
|
NM_000143.4(FH):c.1013T>C (p.Ile338Thr)
|
rs201975537
|
|
NM_000143.4(FH):c.1014A>G (p.Ile338Met)
|
|
|
NM_000143.4(FH):c.1015_1024delinsT (p.Ala339_Ile342delinsPhe)
|
|
|
NM_000143.4(FH):c.1016C>A (p.Ala339Glu)
|
rs1659852423
|
|
NM_000143.4(FH):c.1016C>T (p.Ala339Val)
|
rs1659852423
|
|
NM_000143.4(FH):c.1025T>C (p.Ile342Thr)
|
rs201383596
|
|
NM_000143.4(FH):c.1028G>C (p.Arg343Pro)
|
rs756990249
|
|
NM_000143.4(FH):c.1030T>G (p.Phe344Val)
|
rs2147916143
|
|
NM_000143.4(FH):c.1035G>A (p.Leu345=)
|
rs1558397757
|
|
NM_000143.4(FH):c.1036G>A (p.Gly346Ser)
|
rs1553341024
|
|
NM_000143.4(FH):c.103T>C (p.Ser35Pro)
|
rs1573889890
|
|
NM_000143.4(FH):c.1040C>T (p.Ser347Phe)
|
rs1573880377
|
|
NM_000143.4(FH):c.1046C>G (p.Pro349Arg)
|
rs1553341017
|
|
NM_000143.4(FH):c.1051T>A (p.Ser351Thr)
|
rs766918221
|
|
NM_000143.4(FH):c.1051T>G (p.Ser351Ala)
|
rs766918221
|
|
NM_000143.4(FH):c.1055G>A (p.Gly352Asp)
|
rs1659850534
|
|
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
|
|
|
NM_000143.4(FH):c.1061G>A (p.Gly354Glu)
|
rs1057523184
|
|
NM_000143.4(FH):c.1061G>C (p.Gly354Ala)
|
rs1057523184
|
|
NM_000143.4(FH):c.1063G>A (p.Glu355Lys)
|
|
|
NM_000143.4(FH):c.1067T>C (p.Leu356Ser)
|
|
|
NM_000143.4(FH):c.1068_1069delinsAC (p.Ile357Leu)
|
rs2147916070
|
|
NM_000143.4(FH):c.1069A>G (p.Ile357Val)
|
rs1027877625
|
|
NM_000143.4(FH):c.1070T>C (p.Ile357Thr)
|
rs1388251431
|
|
NM_000143.4(FH):c.1071C>G (p.Ile357Met)
|
rs1391140770
|
|
NM_000143.4(FH):c.1083T>G (p.Asn361Lys)
|
rs1659849280
|
|
NM_000143.4(FH):c.1108+3A>G
|
rs200118475
|
|
NM_000143.4(FH):c.1108G>C (p.Gly370Arg)
|
rs1659848371
|
|
NM_000143.4(FH):c.1109-3A>G
|
rs1659810726
|
|
NM_000143.4(FH):c.1109-3A>T
|
|
|
NM_000143.4(FH):c.1109G>A (p.Gly370Asp)
|
rs1553340894
|
|
NM_000143.4(FH):c.110G>C (p.Trp37Ser)
|
rs1660318244
|
|
NM_000143.4(FH):c.1117_1119del (p.Asn373del)
|
rs1553340884
|
|
NM_000143.4(FH):c.1118A>G (p.Asn373Ser)
|
rs1060499643
|
|
NM_000143.4(FH):c.1119C>A (p.Asn373Lys)
|
rs542014575
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
NM_000143.4(FH):c.1123A>G (p.Thr375Ala)
|
rs1573879366
|
|
NM_000143.4(FH):c.1124C>T (p.Thr375Ile)
|
rs1659809804
|
|
NM_000143.4(FH):c.1129T>C (p.Cys377Arg)
|
rs398123161
|
|
NM_000143.4(FH):c.112C>T (p.Pro38Ser)
|
|
|
NM_000143.4(FH):c.1136C>A (p.Ala379Glu)
|
rs2147914999
|
|
NM_000143.4(FH):c.113C>T (p.Pro38Leu)
|
rs2147926864
|
|
NM_000143.4(FH):c.1147G>C (p.Val383Leu)
|
rs2147914983
|
|
NM_000143.4(FH):c.1148T>C (p.Val383Ala)
|
|
|
NM_000143.4(FH):c.1151C>T (p.Ala384Val)
|
rs904463039
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1156C>A (p.Gln386Lys)
|
|
|
NM_000143.4(FH):c.1156C>G (p.Gln386Glu)
|
rs2147914963
|
|
NM_000143.4(FH):c.115C>T (p.Pro39Ser)
|
rs2147926857
|
|
NM_000143.4(FH):c.1162A>G (p.Met388Val)
|
rs1573879331
|
|
NM_000143.4(FH):c.1162A>T (p.Met388Leu)
|
|
|
NM_000143.4(FH):c.1163T>C (p.Met388Thr)
|
rs876660830
|
|
NM_000143.4(FH):c.1163T>G (p.Met388Arg)
|
rs876660830
|
|
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)
|
rs1178007598
|
|
NM_000143.4(FH):c.1170C>A (p.Asn390Lys)
|
rs1659806898
|
|
NM_000143.4(FH):c.1170C>G (p.Asn390Lys)
|
rs1659806898
|
|
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
|
|
|
NM_000143.4(FH):c.1172A>C (p.His391Pro)
|
rs1659806824
|
|
NM_000143.4(FH):c.1172A>G (p.His391Arg)
|
rs1659806824
|
|
NM_000143.4(FH):c.1186G>C (p.Val396Leu)
|
rs753996659
|
|
NM_000143.4(FH):c.1187T>G (p.Val396Gly)
|
rs1659806206
|
|
NM_000143.4(FH):c.11C>A (p.Ala4Glu)
|
rs1252151546
|
|
NM_000143.4(FH):c.11C>G (p.Ala4Gly)
|
|
|
NM_000143.4(FH):c.1200T>G (p.Asn400Lys)
|
rs1659805291
|
|
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)
|
rs1573879289
|
|
NM_000143.4(FH):c.1204C>A (p.His402Asn)
|
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1207T>C (p.Phe403Leu)
|
|
|
NM_000143.4(FH):c.1212G>T (p.Glu404Asp)
|
|
|
NM_000143.4(FH):c.1216A>G (p.Asn406Asp)
|
rs876659362
|
|
NM_000143.4(FH):c.1217A>G (p.Asn406Ser)
|
|
|
NM_000143.4(FH):c.1218T>A (p.Asn406Lys)
|
|
|
NM_000143.4(FH):c.1224C>G (p.Phe408Leu)
|
rs759548413
|
|
NM_000143.4(FH):c.1227G>C (p.Lys409Asn)
|
rs774493741
|
|
NM_000143.4(FH):c.1228C>T (p.Pro410Ser)
|
rs2147914837
|
|
NM_000143.4(FH):c.1229C>G (p.Pro410Arg)
|
rs1057517735
|
|
NM_000143.4(FH):c.1229C>T (p.Pro410Leu)
|
rs1057517735
|
|
NM_000143.4(FH):c.122_123del (p.Ala41fs)
|
|
|
NM_000143.4(FH):c.1234A>T (p.Met412Leu)
|
|
|
NM_000143.4(FH):c.1236+4dup
|
|
|
NM_000143.4(FH):c.1236+6C>A
|
|
|
NM_000143.4(FH):c.1236+6C>T
|
|
|
NM_000143.4(FH):c.1236G>A (p.Met412Ile)
|
rs1573879248
|
|
NM_000143.4(FH):c.1237-3A>G
|
rs2147913409
|
|
NM_000143.4(FH):c.1237-3A>T
|
rs2147913409
|
|
NM_000143.4(FH):c.1237-8A>T
|
|
|
NM_000143.4(FH):c.1237A>G (p.Ile413Val)
|
|
|
NM_000143.4(FH):c.1238T>C (p.Ile413Thr)
|
|
|
NM_000143.4(FH):c.1239T>G (p.Ile413Met)
|
|
|
NM_000143.4(FH):c.1240A>G (p.Lys414Glu)
|
rs1573878145
|
|
NM_000143.4(FH):c.1241A>G (p.Lys414Arg)
|
rs2147913385
|
|
NM_000143.4(FH):c.1243A>C (p.Asn415His)
|
rs1659748903
|
|
NM_000143.4(FH):c.1245T>C (p.Asn415=)
|
|
|
NM_000143.4(FH):c.1246G>A (p.Val416Met)
|
|
|
NM_000143.4(FH):c.124G>A (p.Ala42Thr)
|
|
|
NM_000143.4(FH):c.124G>T (p.Ala42Ser)
|
rs2147926832
|
|
NM_000143.4(FH):c.1252C>G (p.His418Asp)
|
|
|
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
|
|
|
NM_000143.4(FH):c.1253A>T (p.His418Leu)
|
|
|
NM_000143.4(FH):c.1259C>A (p.Ala420Asp)
|
rs766377516
|
|
NM_000143.4(FH):c.125C>T (p.Ala42Val)
|
rs1194980336
|
|
NM_000143.4(FH):c.1261A>G (p.Arg421Gly)
|
rs1659748055
|
|
NM_000143.4(FH):c.1262G>C (p.Arg421Thr)
|
rs1659747962
|
|
NM_000143.4(FH):c.1262G>T (p.Arg421Met)
|
rs1659747962
|
|
NM_000143.4(FH):c.1263G>C (p.Arg421Ser)
|
rs777409218
|
|
NM_000143.4(FH):c.1263G>T (p.Arg421Ser)
|
rs777409218
|
|
NM_000143.4(FH):c.1270G>A (p.Gly424Arg)
|
rs1553340705
|
|
NM_000143.4(FH):c.1277C>A (p.Ala426Asp)
|
rs1553340703
|
|
NM_000143.4(FH):c.1280C>T (p.Ser427Leu)
|
rs1573878095
|
|
NM_000143.4(FH):c.1282G>C (p.Val428Leu)
|
rs1558396381
|
|
NM_000143.4(FH):c.1285T>C (p.Ser429Pro)
|
|
|
NM_000143.4(FH):c.1286C>G (p.Ser429Cys)
|
rs1558396375
|
|
NM_000143.4(FH):c.1289T>A (p.Phe430Tyr)
|
|
|
NM_000143.4(FH):c.128G>T (p.Arg43Leu)
|
rs2147926825
|
|
NM_000143.4(FH):c.1292C>T (p.Thr431Ile)
|
rs201005880
|
|
NM_000143.4(FH):c.1297A>T (p.Asn433Tyr)
|
rs200121326
|
|
NM_000143.4(FH):c.1303G>C (p.Val435Leu)
|
|
|
NM_000143.4(FH):c.1304T>C (p.Val435Ala)
|
rs982483795
|
|
NM_000143.4(FH):c.1306G>A (p.Val436Met)
|
rs1324526971
|
|
NM_000143.4(FH):c.1306G>T (p.Val436Leu)
|
rs1324526971
|
|
NM_000143.4(FH):c.1309G>C (p.Gly437Arg)
|
|
|
NM_000143.4(FH):c.1318G>A (p.Ala440Thr)
|
|
|
NM_000143.4(FH):c.132+5G>A
|
rs1060499627
|
|
NM_000143.4(FH):c.1322A>G (p.Asn441Ser)
|
rs1357584529
|
|
NM_000143.4(FH):c.1323T>A (p.Asn441Lys)
|
rs945101483
|
|
NM_000143.4(FH):c.1324A>G (p.Thr442Ala)
|
rs771503401
|
|
NM_000143.4(FH):c.1325C>G (p.Thr442Arg)
|
rs1060500899
|
|
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
|
|
|
NM_000143.4(FH):c.133-3T>G
|
|
|
NM_000143.4(FH):c.1337A>G (p.Asn446Ser)
|
rs2147913108
|
|
NM_000143.4(FH):c.1338C>G (p.Asn446Lys)
|
rs113572177
|
|
NM_000143.4(FH):c.1339A>C (p.Lys447Gln)
|
|
|
NM_000143.4(FH):c.133G>T (p.Ala45Ser)
|
rs1260007300
|
|
NM_000143.4(FH):c.1340A>G (p.Lys447Arg)
|
rs756326120
|
|
NM_000143.4(FH):c.1347G>A (p.Met449Ile)
|
rs376502356
|
|
NM_000143.4(FH):c.1348A>G (p.Asn450Asp)
|
rs1659742832
|
|
NM_000143.4(FH):c.1352A>G (p.Glu451Gly)
|
|
|
NM_000143.4(FH):c.1354T>A (p.Ser452Thr)
|
rs201388169
|
|
NM_000143.4(FH):c.1357C>G (p.Leu453Val)
|
rs1218102979
|
|
NM_000143.4(FH):c.1361T>C (p.Met454Thr)
|
rs1353763695
|
|
NM_000143.4(FH):c.1362G>A (p.Met454Ile)
|
rs766177929
|
|
NM_000143.4(FH):c.1366G>C (p.Val456Leu)
|
rs200244096
|
|
NM_000143.4(FH):c.1378A>G (p.Asn460Asp)
|
|
|
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)
|
rs767253363
|
|
NM_000143.4(FH):c.1382C>T (p.Pro461Leu)
|
|
|
NM_000143.4(FH):c.1384C>T (p.His462Tyr)
|
rs201625211
|
|
NM_000143.4(FH):c.1385A>G (p.His462Arg)
|
rs1466657268
|
|
NM_000143.4(FH):c.1389A>G (p.Ile463Met)
|
rs876659472
|
|
NM_000143.4(FH):c.1390+2T>C
|
rs1558396285
|
|
NM_000143.4(FH):c.1390+3A>G
|
|
|
NM_000143.4(FH):c.1390+3_1390+6del
|
|
|
NM_000143.4(FH):c.1390+4A>T
|
rs2147913003
|
|
NM_000143.4(FH):c.1390+4dup
|
|
|
NM_000143.4(FH):c.1390+5G>A
|
rs1352808353
|
|
NM_000143.4(FH):c.1390+6T>C
|
rs1338650106
|
|
NM_000143.4(FH):c.1391-12T>G
|
|
|
NM_000143.4(FH):c.1391-3C>T
|
|
|
NM_000143.4(FH):c.1391G>T (p.Gly464Val)
|
rs1131691250
|
|
NM_000143.4(FH):c.1392G>T (p.Gly464=)
|
|
|
NM_000143.4(FH):c.1398C>G (p.Asp466Glu)
|
rs1558395525
|
|
NM_000143.4(FH):c.1399A>G (p.Lys467Glu)
|
rs2147911350
|
|
NM_000143.4(FH):c.13C>G (p.Leu5Val)
|
rs1553342165
|
|
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
|
|
|
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
|
|
|
NM_000143.4(FH):c.1411A>T (p.Ile471Phe)
|
rs1659667519
|
|
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
|
|
|
NM_000143.4(FH):c.1415C>A (p.Ala472Asp)
|
rs765643179
|
|
NM_000143.4(FH):c.1415C>T (p.Ala472Val)
|
rs765643179
|
|
NM_000143.4(FH):c.1421C>T (p.Thr474Ile)
|
rs369802820
|
|
NM_000143.4(FH):c.1427A>G (p.His476Arg)
|
rs1202960869
|
|
NM_000143.4(FH):c.1429A>G (p.Lys477Glu)
|
rs547519260
|
|
NM_000143.4(FH):c.1430A>C (p.Lys477Thr)
|
rs761934894
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1434T>A (p.Asn478Lys)
|
rs786202199
|
|
NM_000143.4(FH):c.1439C>T (p.Ser480Leu)
|
rs1131691245
|
|
NM_000143.4(FH):c.143A>T (p.Asn48Ile)
|
rs1660246440
|
|
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
|
|
|
NM_000143.4(FH):c.1456_1458del (p.Ala486del)
|
rs2147911262
|
|
NM_000143.4(FH):c.1459A>G (p.Ile487Val)
|
rs1391195810
|
|
NM_000143.4(FH):c.1460T>G (p.Ile487Ser)
|
|
|
NM_000143.4(FH):c.1463A>T (p.Glu488Val)
|
|
|
NM_000143.4(FH):c.1468G>C (p.Gly490Arg)
|
rs1553340515
|
|
NM_000143.4(FH):c.1474C>G (p.Leu492Val)
|
rs1659663430
|
|
NM_000143.4(FH):c.1478C>A (p.Thr493Lys)
|
rs1558395446
|
|
NM_000143.4(FH):c.1480G>C (p.Ala494Pro)
|
rs1553340508
|
|
NM_000143.4(FH):c.1481C>A (p.Ala494Glu)
|
|
|
NM_000143.4(FH):c.1481C>G (p.Ala494Gly)
|
rs752369363
|
|
NM_000143.4(FH):c.1481C>T (p.Ala494Val)
|
rs752369363
|
|
NM_000143.4(FH):c.1484A>G (p.Glu495Gly)
|
rs2147911220
|
|
NM_000143.4(FH):c.1489T>C (p.Phe497Leu)
|
rs2147911216
|
|
NM_000143.4(FH):c.148T>C (p.Phe50Leu)
|
rs1558402284
|
|
NM_000143.4(FH):c.1493A>G (p.Asp498Gly)
|
|
|
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)
|
rs750838853
|
|
NM_000143.4(FH):c.1498T>C (p.Trp500Arg)
|
|
|
NM_000143.4(FH):c.14T>C (p.Leu5Pro)
|
rs200099371
|
|
NM_000143.4(FH):c.14T>G (p.Leu5Arg)
|
|
|
NM_000143.4(FH):c.1504A>G (p.Lys502Glu)
|
|
|
NM_000143.4(FH):c.1506dup (p.Pro503fs)
|
rs886041202
|
|
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)
|
rs1659661748
|
|
NM_000143.4(FH):c.1508_1509insCAAACC (p.Pro503_Lys504dup)
|
rs1060500895
|
|
NM_000143.4(FH):c.1516A>G (p.Met506Val)
|
rs762413315
|
|
NM_000143.4(FH):c.1518G>A (p.Met506Ile)
|
rs2147911190
|
|
NM_000143.4(FH):c.1518G>T (p.Met506Ile)
|
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.1522G>C (p.Gly508Arg)
|
rs1659661545
|
|
NM_000143.4(FH):c.1522G>T (p.Gly508Cys)
|
rs1659661545
|
|
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
|
|
|
NM_000143.4(FH):c.1528A>C (p.Lys510Gln)
|
rs2147911176
|
|
NM_000143.4(FH):c.1528A>G (p.Lys510Glu)
|
|
|
NM_000143.4(FH):c.1529A>G (p.Lys510Arg)
|
rs2147911174
|
|
NM_000143.4(FH):c.1532G>C (p.Ter511Ser)
|
rs2147911168
|
|
NM_000143.4(FH):c.154A>G (p.Ile52Val)
|
rs543844061
|
|
NM_000143.4(FH):c.157G>A (p.Glu53Lys)
|
rs863224013
|
|
NM_000143.4(FH):c.163G>T (p.Asp55Tyr)
|
|
|
NM_000143.4(FH):c.164A>G (p.Asp55Gly)
|
rs1660245400
|
|
NM_000143.4(FH):c.166A>G (p.Thr56Ala)
|
rs1232573732
|
|
NM_000143.4(FH):c.167C>A (p.Thr56Asn)
|
rs1433872618
|
|
NM_000143.4(FH):c.167C>T (p.Thr56Ile)
|
rs1433872618
|
|
NM_000143.4(FH):c.16C>T (p.Arg6Trp)
|
rs1660324018
|
|
NM_000143.4(FH):c.170T>C (p.Phe57Ser)
|
rs759884607
|
|
NM_000143.4(FH):c.172G>A (p.Gly58Ser)
|
rs11545659
|
|
NM_000143.4(FH):c.17G>A (p.Arg6Gln)
|
|
|
NM_000143.4(FH):c.17G>C (p.Arg6Pro)
|
|
|
NM_000143.4(FH):c.183G>C (p.Lys61Asn)
|
rs766840026
|
|
NM_000143.4(FH):c.187C>A (p.Pro63Thr)
|
rs1573888488
|
|
NM_000143.4(FH):c.187C>T (p.Pro63Ser)
|
rs1573888488
|
|
NM_000143.4(FH):c.193G>T (p.Asp65Tyr)
|
rs769956664
|
|
NM_000143.4(FH):c.194A>T (p.Asp65Val)
|
rs145116688
|
|
NM_000143.4(FH):c.206G>A (p.Gly69Asp)
|
rs1660243078
|
|
NM_000143.4(FH):c.209C>T (p.Ala70Val)
|
rs1573888433
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.215C>A (p.Thr72Asn)
|
rs2147925174
|
|
NM_000143.4(FH):c.221G>C (p.Arg74Thr)
|
|
|
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
|
|
|
NM_000143.4(FH):c.229A>G (p.Met77Val)
|
|
|
NM_000143.4(FH):c.22C>G (p.Leu8Val)
|
rs1660323820
|
|
NM_000143.4(FH):c.22C>T (p.Leu8Phe)
|
|
|
NM_000143.4(FH):c.232A>C (p.Asn78His)
|
rs1558402209
|
|
NM_000143.4(FH):c.233A>G (p.Asn78Ser)
|
|
|
NM_000143.4(FH):c.234C>A (p.Asn78Lys)
|
rs993218685
|
|
NM_000143.4(FH):c.239A>C (p.Lys80Thr)
|
rs1660241142
|
|
NM_000143.4(FH):c.240G>C (p.Lys80Asn)
|
rs1573888362
|
|
NM_000143.4(FH):c.243T>G (p.Ile81Met)
|
|
|
NM_000143.4(FH):c.245G>A (p.Gly82Glu)
|
rs1558402197
|
|
NM_000143.4(FH):c.248G>A (p.Gly83Asp)
|
|
|
NM_000143.4(FH):c.251T>C (p.Val84Ala)
|
rs878853692
|
|
NM_000143.4(FH):c.254C>A (p.Thr85Lys)
|
|
|
NM_000143.4(FH):c.254C>G (p.Thr85Arg)
|
rs1324632356
|
|
NM_000143.4(FH):c.260G>T (p.Arg87Leu)
|
rs200007371
|
|
NM_000143.4(FH):c.262A>C (p.Met88Leu)
|
rs1660240175
|
|
NM_000143.4(FH):c.264G>C (p.Met88Ile)
|
rs2147925082
|
|
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
|
|
|
NM_000143.4(FH):c.267+3_267+4del
|
|
|
NM_000143.4(FH):c.267+4A>C
|
|
|
NM_000143.4(FH):c.267A>C (p.Pro89=)
|
rs1060500897
|
|
NM_000143.4(FH):c.268-21_268-8del
|
rs2147923124
|
|
NM_000143.4(FH):c.269C>T (p.Thr90Ile)
|
rs1401508226
|
|
NM_000143.4(FH):c.26_43dup (p.Ala9_Leu14dup)
|
rs1395036789
|
|
NM_000143.4(FH):c.272C>T (p.Pro91Leu)
|
rs1455612736
|
|
NM_000143.4(FH):c.274G>T (p.Val92Phe)
|
|
|
NM_000143.4(FH):c.278T>C (p.Ile93Thr)
|
rs1660148233
|
|
NM_000143.4(FH):c.284C>T (p.Ala95Val)
|
rs1660148115
|
|
NM_000143.4(FH):c.289G>A (p.Gly97Ser)
|
|
|
NM_000143.4(FH):c.289G>C (p.Gly97Arg)
|
rs1660147877
|
|
NM_000143.4(FH):c.299A>T (p.Lys100Met)
|
|
|
NM_000143.4(FH):c.307G>A (p.Ala103Thr)
|
|
|
NM_000143.4(FH):c.308C>T (p.Ala103Val)
|
rs1256116208
|
|
NM_000143.4(FH):c.310G>A (p.Ala104Thr)
|
rs1303488878
|
|
NM_000143.4(FH):c.326A>T (p.Asp109Val)
|
rs1573886432
|
|
NM_000143.4(FH):c.32C>G (p.Ser11Trp)
|
|
|
NM_000143.4(FH):c.32C>T (p.Ser11Leu)
|
rs1226883651
|
|
NM_000143.4(FH):c.335T>C (p.Leu112Pro)
|
|
|
NM_000143.4(FH):c.338A>G (p.Asp113Gly)
|
|
|
NM_000143.4(FH):c.339T>A (p.Asp113Glu)
|
rs1029743950
|
|
NM_000143.4(FH):c.34C>A (p.Arg12Ser)
|
rs199912971
|
|
NM_000143.4(FH):c.34C>G (p.Arg12Gly)
|
rs199912971
|
|
NM_000143.4(FH):c.354T>G (p.Asn118Lys)
|
rs1465574376
|
|
NM_000143.4(FH):c.355G>A (p.Ala119Thr)
|
|
|
NM_000143.4(FH):c.355_356delinsTT (p.Ala119Leu)
|
|
|
NM_000143.4(FH):c.356C>A (p.Ala119Glu)
|
|
|
NM_000143.4(FH):c.356C>T (p.Ala119Val)
|
rs1395827785
|
|
NM_000143.4(FH):c.358A>C (p.Ile120Leu)
|
rs199641124
|
|
NM_000143.4(FH):c.35G>A (p.Arg12His)
|
rs367826177
|
|
NM_000143.4(FH):c.361A>G (p.Met121Val)
|
|
|
NM_000143.4(FH):c.363G>C (p.Met121Ile)
|
|
|
NM_000143.4(FH):c.370G>A (p.Ala124Thr)
|
rs1660143983
|
|
NM_000143.4(FH):c.370G>C (p.Ala124Pro)
|
rs1660143983
|
|
NM_000143.4(FH):c.373G>C (p.Asp125His)
|
rs2147922936
|
|
NM_000143.4(FH):c.378+4G>A
|
rs2147922924
|
|
NM_000143.4(FH):c.378+5G>A
|
rs1660143514
|
|
NM_000143.4(FH):c.379G>A (p.Val127Ile)
|
|
|
NM_000143.4(FH):c.379G>T (p.Val127Leu)
|
rs878853693
|
|
NM_000143.4(FH):c.37C>G (p.Pro13Ala)
|
rs587778360
|
|
NM_000143.4(FH):c.37C>T (p.Pro13Ser)
|
rs587778360
|
|
NM_000143.4(FH):c.382G>A (p.Ala128Thr)
|
rs1553341620
|
|
NM_000143.4(FH):c.383C>T (p.Ala128Val)
|
|
|
NM_000143.4(FH):c.389G>A (p.Gly130Asp)
|
|
|
NM_000143.4(FH):c.393A>T (p.Lys131Asn)
|
rs2147922022
|
|
NM_000143.4(FH):c.403C>T (p.His135Tyr)
|
rs1553341617
|
|
NM_000143.4(FH):c.404A>C (p.His135Pro)
|
rs786202833
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.409C>T (p.Pro137Ser)
|
|
|
NM_000143.4(FH):c.40C>G (p.Leu14Val)
|
|
|
NM_000143.4(FH):c.40dup (p.Leu14fs)
|
rs1060500900
|
|
NM_000143.4(FH):c.410C>G (p.Pro137Arg)
|
rs1660101853
|
|
NM_000143.4(FH):c.410C>T (p.Pro137Leu)
|
rs1660101853
|
|
NM_000143.4(FH):c.411T>A (p.Pro137=)
|
|
|
NM_000143.4(FH):c.415G>C (p.Val139Leu)
|
rs200343823
|
|
NM_000143.4(FH):c.416T>G (p.Val139Gly)
|
rs1573885528
|
|
NM_000143.4(FH):c.418G>C (p.Val140Leu)
|
rs746195750
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.434C>T (p.Ser145Leu)
|
rs1573885482
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.438A>T (p.Gly146=)
|
rs2147921924
|
|
NM_000143.4(FH):c.43G>A (p.Val15Met)
|
|
|
NM_000143.4(FH):c.43G>C (p.Val15Leu)
|
|
|
NM_000143.4(FH):c.446C>A (p.Thr149Lys)
|
|
|
NM_000143.4(FH):c.448A>C (p.Asn150His)
|
rs1660099527
|
|
NM_000143.4(FH):c.44T>C (p.Val15Ala)
|
rs1660322018
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.463G>A (p.Glu155Lys)
|
|
|
NM_000143.4(FH):c.464A>T (p.Glu155Val)
|
rs863224014
|
|
NM_000143.4(FH):c.469A>G (p.Ile157Val)
|
rs778399986
|
|
NM_000143.4(FH):c.470T>C (p.Ile157Thr)
|
rs2147921876
|
|
NM_000143.4(FH):c.473G>A (p.Ser158Asn)
|
rs1060500902
|
|
NM_000143.4(FH):c.473_474delinsAA (p.Ser158Lys)
|
|
|
NM_000143.4(FH):c.47G>A (p.Arg16Gln)
|
|
|
NM_000143.4(FH):c.481G>A (p.Ala161Thr)
|
rs1573885421
|
|
NM_000143.4(FH):c.481G>C (p.Ala161Pro)
|
|
|
NM_000143.4(FH):c.482C>T (p.Ala161Val)
|
rs1307815197
|
|
NM_000143.4(FH):c.484A>G (p.Ile162Val)
|
rs2147921864
|
|
NM_000143.4(FH):c.488A>G (p.Glu163Gly)
|
|
|
NM_000143.4(FH):c.48G>A (p.Arg16=)
|
rs1468361143
|
|
NM_000143.4(FH):c.490A>G (p.Met164Val)
|
rs1660097952
|
|
NM_000143.4(FH):c.491T>G (p.Met164Arg)
|
|
|
NM_000143.4(FH):c.495AGG[1] (p.Gly167del)
|
rs1660097679
|
|
NM_000143.4(FH):c.496G>A (p.Gly166Arg)
|
rs1660097824
|
|
NM_000143.4(FH):c.497G>A (p.Gly166Glu)
|
rs746612719
|
|
NM_000143.4(FH):c.499G>T (p.Gly167Cys)
|
|
|
NM_000143.4(FH):c.4T>A (p.Tyr2Asn)
|
rs112335468
|
|
NM_000143.4(FH):c.500G>T (p.Gly167Val)
|
rs1558400520
|
|
NM_000143.4(FH):c.502G>C (p.Glu168Gln)
|
rs1573885382
|
|
NM_000143.4(FH):c.503A>T (p.Glu168Val)
|
|
|
NM_000143.4(FH):c.509G>A (p.Gly170Asp)
|
rs1573885360
|
|
NM_000143.4(FH):c.512G>A (p.Ser171Asn)
|
rs1157774951
|
|
NM_000143.4(FH):c.513C>G (p.Ser171Arg)
|
rs1660097007
|
|
NM_000143.4(FH):c.515A>G (p.Lys172Arg)
|
rs2147921824
|
|
NM_000143.4(FH):c.517A>T (p.Ile173Leu)
|
rs1558400504
|
|
NM_000143.4(FH):c.526C>G (p.His176Asp)
|
|
|
NM_000143.4(FH):c.526C>T (p.His176Tyr)
|
|
|
NM_000143.4(FH):c.527A>T (p.His176Leu)
|
rs1158759883
|
|
NM_000143.4(FH):c.52C>G (p.Pro18Ala)
|
rs1660321288
|
|
NM_000143.4(FH):c.533A>G (p.Asn178Ser)
|
rs2147921789
|
|
NM_000143.4(FH):c.534C>A (p.Asn178Lys)
|
rs375878939
|
|
NM_000143.4(FH):c.535G>A (p.Asp179Asn)
|
rs1553341588
|
|
NM_000143.4(FH):c.535G>T (p.Asp179Tyr)
|
rs1553341588
|
|
NM_000143.4(FH):c.536A>G (p.Asp179Gly)
|
rs2147921775
|
|
NM_000143.4(FH):c.538C>T (p.His180Tyr)
|
|
|
NM_000143.4(FH):c.541G>A (p.Val181Ile)
|
|
|
NM_000143.4(FH):c.545A>G (p.Asn182Ser)
|
rs1558400468
|
|
NM_000143.4(FH):c.547A>G (p.Lys183Glu)
|
rs2147921763
|
|
NM_000143.4(FH):c.551G>C (p.Ser184Thr)
|
rs750316531
|
|
NM_000143.4(FH):c.552C>G (p.Ser184Arg)
|
rs377660762
|
|
NM_000143.4(FH):c.555+3C>A
|
rs1660094654
|
|
NM_000143.4(FH):c.555+3del
|
rs1553341583
|
|
NM_000143.4(FH):c.555+4A>G
|
rs776240700
|
|
NM_000143.4(FH):c.555+5G>T
|
|
|
NM_000143.4(FH):c.555+7_555+8delinsTA
|
|
|
NM_000143.4(FH):c.555G>T (p.Gln185His)
|
rs1660094798
|
|
NM_000143.4(FH):c.55G>A (p.Ala19Thr)
|
|
|
NM_000143.4(FH):c.568A>G (p.Thr190Ala)
|
|
|
NM_000143.4(FH):c.569C>T (p.Thr190Ile)
|
rs2147919703
|
|
NM_000143.4(FH):c.570T>A (p.Thr190=)
|
|
|
NM_000143.4(FH):c.576C>G (p.Pro192=)
|
rs1413797947
|
|
NM_000143.4(FH):c.577A>G (p.Thr193Ala)
|
rs2147919685
|
|
NM_000143.4(FH):c.57C>A (p.Ala19=)
|
rs1469317078
|
|
NM_000143.4(FH):c.580G>T (p.Ala194Ser)
|
rs587782215
|
|
NM_000143.4(FH):c.581C>A (p.Ala194Glu)
|
rs1558399442
|
|
NM_000143.4(FH):c.586C>T (p.His196Tyr)
|
rs1553341363
|
|
NM_000143.4(FH):c.589A>C (p.Ile197Leu)
|
rs201764931
|
|
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
|
|
|
NM_000143.4(FH):c.58G>T (p.Ala20Ser)
|
|
|
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)
|
rs786202907
|
|
NM_000143.4(FH):c.593C>G (p.Ala198Gly)
|
rs1414507017
|
|
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
|
|
|
NM_000143.4(FH):c.599C>T (p.Ala200Val)
|
rs1659997677
|
|
NM_000143.4(FH):c.59C>G (p.Ala20Gly)
|
|
|
NM_000143.4(FH):c.59C>T (p.Ala20Val)
|
rs1573889953
|
|
NM_000143.4(FH):c.601A>G (p.Ile201Val)
|
rs1659997422
|
|
NM_000143.4(FH):c.602T>C (p.Ile201Thr)
|
rs1476664795
|
|
NM_000143.4(FH):c.603A>G (p.Ile201Met)
|
rs2147919643
|
|
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
|
|
|
NM_000143.4(FH):c.607G>A (p.Val203Ile)
|
|
|
NM_000143.4(FH):c.607G>T (p.Val203Phe)
|
|
|
NM_000143.4(FH):c.608T>G (p.Val203Gly)
|
rs200796921
|
|
NM_000143.4(FH):c.610C>A (p.His204Asn)
|
rs863223996
|
|
NM_000143.4(FH):c.611A>G (p.His204Arg)
|
rs1060500898
|
|
NM_000143.4(FH):c.612T>A (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.612T>G (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.616G>T (p.Val206Leu)
|
rs763183520
|
|
NM_000143.4(FH):c.61G>C (p.Ala21Pro)
|
|
|
NM_000143.4(FH):c.620T>C (p.Leu207Pro)
|
rs1060500894
|
|
NM_000143.4(FH):c.622T>G (p.Leu208Val)
|
|
|
NM_000143.4(FH):c.623T>C (p.Leu208Ser)
|
|
|
NM_000143.4(FH):c.62C>A (p.Ala21Asp)
|
|
|
NM_000143.4(FH):c.62C>T (p.Ala21Val)
|
rs1131691251
|
|
NM_000143.4(FH):c.634C>G (p.Gln212Glu)
|
rs1553341353
|
|
NM_000143.4(FH):c.636G>C (p.Gln212His)
|
rs1270956851
|
|
NM_000143.4(FH):c.637A>G (p.Lys213Glu)
|
|
|
NM_000143.4(FH):c.638A>G (p.Lys213Arg)
|
rs1659995341
|
|
NM_000143.4(FH):c.644A>G (p.His215Arg)
|
|
|
NM_000143.4(FH):c.644A>T (p.His215Leu)
|
rs770141324
|
|
NM_000143.4(FH):c.647A>C (p.Asp216Ala)
|
|
|
NM_000143.4(FH):c.647A>T (p.Asp216Val)
|
rs1553341348
|
|
NM_000143.4(FH):c.648T>G (p.Asp216Glu)
|
rs199536615
|
|
NM_000143.4(FH):c.649G>T (p.Ala217Ser)
|
|
|
NM_000143.4(FH):c.650C>T (p.Ala217Val)
|
|
|
NM_000143.4(FH):c.657T>G (p.Asp219Glu)
|
rs995196012
|
|
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu)
|
rs1060500893
|
|
NM_000143.4(FH):c.659C>G (p.Ala220Gly)
|
rs758678272
|
|
NM_000143.4(FH):c.65T>A (p.Leu22Ter)
|
rs1031919395
|
|
NM_000143.4(FH):c.65T>C (p.Leu22Ser)
|
rs1031919395
|
|
NM_000143.4(FH):c.661A>G (p.Lys221Glu)
|
|
|
NM_000143.4(FH):c.662A>T (p.Lys221Ile)
|
rs2147919540
|
|
NM_000143.4(FH):c.667A>G (p.Lys223Glu)
|
|
|
NM_000143.4(FH):c.668A>C (p.Lys223Thr)
|
rs1064795294
|
|
NM_000143.4(FH):c.668A>G (p.Lys223Arg)
|
rs1064795294
|
|
NM_000143.4(FH):c.668A>T (p.Lys223Ile)
|
rs1064795294
|
|
NM_000143.4(FH):c.66A>C (p.Leu22Phe)
|
|
|
NM_000143.4(FH):c.672G>C (p.Glu224Asp)
|
|
|
NM_000143.4(FH):c.674T>C (p.Phe225Ser)
|
rs149651434
|
|
NM_000143.4(FH):c.675T>A (p.Phe225Leu)
|
rs1270246282
|
|
NM_000143.4(FH):c.677C>A (p.Ala226Glu)
|
rs778786425
|
|
NM_000143.4(FH):c.677C>T (p.Ala226Val)
|
|
|
NM_000143.4(FH):c.67G>A (p.Ala23Thr)
|
rs1573889943
|
|
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
|
|
|
NM_000143.4(FH):c.683T>C (p.Ile228Thr)
|
rs753773918
|
|
NM_000143.4(FH):c.687C>G (p.Ile229Met)
|
rs755587163
|
|
NM_000143.4(FH):c.68C>T (p.Ala23Val)
|
rs2147926968
|
|
NM_000143.4(FH):c.691A>C (p.Ile231Leu)
|
rs1659991322
|
|
NM_000143.4(FH):c.691A>G (p.Ile231Val)
|
rs1659991322
|
|
NM_000143.4(FH):c.692T>C (p.Ile231Thr)
|
rs1335587342
|
|
NM_000143.4(FH):c.706A>G (p.Thr236Ala)
|
rs1064793126
|
|
NM_000143.4(FH):c.707C>T (p.Thr236Ile)
|
rs773382103
|
|
NM_000143.4(FH):c.70T>A (p.Ser24Thr)
|
|
|
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
|
|
|
NM_000143.4(FH):c.718G>C (p.Val240Leu)
|
rs1291740270
|
|
NM_000143.4(FH):c.718G>T (p.Val240Phe)
|
|
|
NM_000143.4(FH):c.721C>G (p.Pro241Ala)
|
rs1349419396
|
|
NM_000143.4(FH):c.722C>T (p.Pro241Leu)
|
rs1553341319
|
|
NM_000143.4(FH):c.730C>T (p.Leu244Phe)
|
|
|
NM_000143.4(FH):c.731T>C (p.Leu244Pro)
|
rs1060499636
|
|
NM_000143.4(FH):c.733G>A (p.Gly245Arg)
|
rs1287444534
|
|
NM_000143.4(FH):c.738+5A>G
|
rs1258289679
|
|
NM_000143.4(FH):c.738G>A (p.Gln246=)
|
|
|
NM_000143.4(FH):c.738G>C (p.Gln246His)
|
rs2147919372
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
NM_000143.4(FH):c.73G>C (p.Ala25Pro)
|
|
|
NM_000143.4(FH):c.747T>A (p.Ser249Arg)
|
|
|
NM_000143.4(FH):c.748G>C (p.Gly250Arg)
|
rs2147917765
|
|
NM_000143.4(FH):c.749G>C (p.Gly250Ala)
|
|
|
NM_000143.4(FH):c.749G>T (p.Gly250Val)
|
rs951611697
|
|
NM_000143.4(FH):c.74C>T (p.Ala25Val)
|
rs1573889933
|
|
NM_000143.4(FH):c.754G>A (p.Val252Ile)
|
rs1353871297
|
|
NM_000143.4(FH):c.763G>T (p.Val255Leu)
|
|
|
NM_000143.4(FH):c.767A>C (p.Lys256Thr)
|
rs978988174
|
|
NM_000143.4(FH):c.767A>G (p.Lys256Arg)
|
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.775A>C (p.Met259Leu)
|
rs1343775223
|
|
NM_000143.4(FH):c.777G>A (p.Met259Ile)
|
rs1044975651
|
|
NM_000143.4(FH):c.777_779del (p.Met259_Thr260delinsIle)
|
|
|
NM_000143.4(FH):c.779C>G (p.Thr260Arg)
|
rs1659924700
|
|
NM_000143.4(FH):c.784A>C (p.Ile262Leu)
|
rs199829765
|
|
NM_000143.4(FH):c.785T>G (p.Ile262Arg)
|
rs786203177
|
|
NM_000143.4(FH):c.790G>C (p.Ala264Pro)
|
|
|
NM_000143.4(FH):c.791C>G (p.Ala264Gly)
|
|
|
NM_000143.4(FH):c.791C>T (p.Ala264Val)
|
|
|
NM_000143.4(FH):c.793G>C (p.Ala265Pro)
|
|
|
NM_000143.4(FH):c.793G>T (p.Ala265Ser)
|
|
|
NM_000143.4(FH):c.796A>G (p.Met266Val)
|
|
|
NM_000143.4(FH):c.796A>T (p.Met266Leu)
|
|
|
NM_000143.4(FH):c.802A>G (p.Arg268Gly)
|
rs2147917678
|
|
NM_000143.4(FH):c.803G>T (p.Arg268Ile)
|
rs1659923371
|
|
NM_000143.4(FH):c.807C>G (p.Ile269Met)
|
|
|
NM_000143.4(FH):c.808T>C (p.Tyr270His)
|
|
|
NM_000143.4(FH):c.814C>A (p.Leu272Ile)
|
rs779019570
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.838G>A (p.Gly280Ser)
|
rs1659921742
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.83T>G (p.Leu28Trp)
|
|
|
NM_000143.4(FH):c.842C>T (p.Thr281Ile)
|
rs1573881633
|
|
NM_000143.4(FH):c.848T>C (p.Leu283Ser)
|
rs1659921346
|
|
NM_000143.4(FH):c.84_85delinsTT (p.Leu28_Gly29delinsPheCys)
|
|
|
NM_000143.4(FH):c.850A>G (p.Asn284Asp)
|
|
|
NM_000143.4(FH):c.853A>T (p.Thr285Ser)
|
rs200791185
|
|
NM_000143.4(FH):c.856A>G (p.Arg286Gly)
|
|
|
NM_000143.4(FH):c.860T>C (p.Ile287Thr)
|
|
|
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
|
|
|
NM_000143.4(FH):c.872A>G (p.Glu291Gly)
|
rs2147917541
|
|
NM_000143.4(FH):c.874A>C (p.Lys292Gln)
|
rs771087739
|
|
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
|
|
|
NM_000143.4(FH):c.876G>T (p.Lys292Asn)
|
rs2147917537
|
|
NM_000143.4(FH):c.877G>A (p.Val293Ile)
|
rs749029092
|
|
NM_000143.4(FH):c.87_89del (p.Gly30del)
|
rs752879506
|
|
NM_000143.4(FH):c.880G>A (p.Ala294Thr)
|
rs1659920259
|
|
NM_000143.4(FH):c.886A>G (p.Lys296Glu)
|
|
|
NM_000143.4(FH):c.887A>G (p.Lys296Arg)
|
rs933479705
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.893C>G (p.Ala298Gly)
|
rs1573881563
|
|
NM_000143.4(FH):c.896C>T (p.Ala299Val)
|
rs2147917505
|
|
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
|
|
|
NM_000143.4(FH):c.8G>A (p.Arg3Gln)
|
|
|
NM_000143.4(FH):c.8G>C (p.Arg3Pro)
|
rs1573890051
|
|
NM_000143.4(FH):c.901A>G (p.Thr301Ala)
|
rs1659918863
|
|
NM_000143.4(FH):c.901A>T (p.Thr301Ser)
|
|
|
NM_000143.4(FH):c.904+2dup
|
rs1573881536
|
|
NM_000143.4(FH):c.904+5G>A
|
|
|
NM_000143.4(FH):c.904G>A (p.Gly302Ser)
|
rs200412958
|
|
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
|
|
|
NM_000143.4(FH):c.905-14_905-12del
|
|
|
NM_000143.4(FH):c.905-3_905-2insATTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_000143.4(FH):c.905G>A (p.Gly302Asp)
|
rs1162334354
|
|
NM_000143.4(FH):c.905G>C (p.Gly302Ala)
|
|
|
NM_000143.4(FH):c.907T>G (p.Leu303Val)
|
rs1057523697
|
|
NM_000143.4(FH):c.910C>G (p.Pro304Ala)
|
|
|
NM_000143.4(FH):c.910C>T (p.Pro304Ser)
|
rs1659857790
|
|
NM_000143.4(FH):c.911C>G (p.Pro304Arg)
|
rs200491078
|
|
NM_000143.4(FH):c.916G>A (p.Val306Ile)
|
rs1659857390
|
|
NM_000143.4(FH):c.92C>A (p.Ala31Glu)
|
rs876659347
|
|
NM_000143.4(FH):c.92C>T (p.Ala31Val)
|
rs876659347
|
|
NM_000143.4(FH):c.937G>A (p.Glu313Lys)
|
rs863224001
|
|
NM_000143.4(FH):c.940G>A (p.Ala314Thr)
|
|
|
NM_000143.4(FH):c.941C>G (p.Ala314Gly)
|
rs1659856002
|
|
NM_000143.4(FH):c.943C>G (p.Leu315Val)
|
rs1573880536
|
|
NM_000143.4(FH):c.94G>A (p.Ala32Thr)
|
rs1371664717
|
|
NM_000143.4(FH):c.94G>C (p.Ala32Pro)
|
|
|
NM_000143.4(FH):c.94G>T (p.Ala32Ser)
|
rs1371664717
|
|
NM_000143.4(FH):c.955G>A (p.Asp319Asn)
|
|
|
NM_000143.4(FH):c.956A>G (p.Asp319Gly)
|
rs1659855240
|
|
NM_000143.4(FH):c.956A>T (p.Asp319Val)
|
|
|
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
|
|
|
NM_000143.4(FH):c.958G>C (p.Ala320Pro)
|
|
|
NM_000143.4(FH):c.958G>T (p.Ala320Ser)
|
rs766441385
|
|
NM_000143.4(FH):c.95C>G (p.Ala32Gly)
|
rs2147926910
|
|
NM_000143.4(FH):c.95C>T (p.Ala32Val)
|
rs2147926910
|
|
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
|
|
|
NM_000143.4(FH):c.973A>T (p.Ser325Cys)
|
rs201124581
|
|
NM_000143.4(FH):c.974G>A (p.Ser325Asn)
|
rs1423324601
|
|
NM_000143.4(FH):c.976G>A (p.Gly326Arg)
|
rs1553341038
|
|
NM_000143.4(FH):c.979G>A (p.Ala327Thr)
|
rs1333344957
|
|
NM_000143.4(FH):c.980C>T (p.Ala327Val)
|
rs1659854224
|
|
NM_000143.4(FH):c.982A>C (p.Met328Leu)
|
|
|
NM_000143.4(FH):c.982A>G (p.Met328Val)
|
rs146816517
|
|
NM_000143.4(FH):c.983T>C (p.Met328Thr)
|
|
|
NM_000143.4(FH):c.983T>G (p.Met328Arg)
|
rs2147916225
|
|
NM_000143.4(FH):c.985A>C (p.Asn329His)
|
|
|
NM_000143.4(FH):c.988A>G (p.Thr330Ala)
|
rs776313200
|
|
NM_000143.4(FH):c.989C>G (p.Thr330Ser)
|
rs200028270
|
|
NM_000143.4(FH):c.989C>T (p.Thr330Ile)
|
rs200028270
|
|
NM_000143.4(FH):c.991A>G (p.Thr331Ala)
|
rs1459131048
|
|
NM_000143.4(FH):c.995C>T (p.Ala332Val)
|
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|