NM_000143.4(FH):c.120C>G (p.Asn40Lys)
|
rs876658186
|
0.00006
|
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.994G>A (p.Ala332Thr)
|
rs1157768121
|
0.00005
|
NM_000143.4(FH):c.-3A>G
|
rs202145941
|
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.305C>T (p.Ala102Val)
|
rs61753295
|
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.1049G>A (p.Arg350Gln)
|
rs749316923
|
0.00002
|
NM_000143.4(FH):c.116C>T (p.Pro39Leu)
|
rs1415259326
|
0.00002
|
NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000143.4(FH):c.352A>G (p.Asn118Asp)
|
rs200738857
|
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.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.1128G>T (p.Gln376His)
|
rs1467002768
|
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.1231A>G (p.Met411Val)
|
rs201381362
|
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.133-3T>C
|
rs1553341989
|
0.00001
|
NM_000143.4(FH):c.1347G>C (p.Met449Ile)
|
rs376502356
|
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.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.227C>T (p.Thr76Met)
|
rs778578307
|
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.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.378+3A>C
|
rs774403932
|
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.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.46C>T (p.Arg16Trp)
|
rs1324875131
|
0.00001
|
NM_000143.4(FH):c.492G>C (p.Met164Ile)
|
rs1370195868
|
0.00001
|
NM_000143.4(FH):c.514A>G (p.Lys172Glu)
|
rs201154463
|
0.00001
|
NM_000143.4(FH):c.556-5A>G
|
rs1060500892
|
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.611A>T (p.His204Leu)
|
rs1060500898
|
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.784A>G (p.Ile262Val)
|
rs199829765
|
0.00001
|
NM_000143.4(FH):c.788A>C (p.Lys263Thr)
|
rs765997824
|
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.889G>A (p.Val297Met)
|
rs1245254230
|
0.00001
|
NM_000143.4(FH):c.909G>C (p.Leu303Phe)
|
rs1659857850
|
0.00001
|
NM_000143.4(FH):c.959C>T (p.Ala320Val)
|
rs202147731
|
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.-1C>A
|
|
|
NM_000143.4(FH):c.-1C>G
|
|
|
NM_000143.4(FH):c.-1C>T
|
|
|
NM_000143.4(FH):c.-2C>A
|
|
|
NM_000143.4(FH):c.-3A>C
|
|
|
NM_000143.4(FH):c.-3A>T
|
|
|
NM_000143.4(FH):c.-5G>A
|
|
|
NM_000143.4(FH):c.-5del
|
|
|
NM_000143.4(FH):c.-6_-5delinsCA
|
|
|
NM_000143.4(FH):c.1000A>G (p.Ser334Gly)
|
rs587782216
|
|
NM_000143.4(FH):c.100C>T (p.Pro34Ser)
|
rs1191023697
|
|
NM_000143.4(FH):c.1012A>T (p.Ile338Leu)
|
|
|
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.1030T>C (p.Phe344Leu)
|
|
|
NM_000143.4(FH):c.1045C>G (p.Pro349Ala)
|
rs1254962869
|
|
NM_000143.4(FH):c.1046C>G (p.Pro349Arg)
|
rs1553341017
|
|
NM_000143.4(FH):c.1051T>G (p.Ser351Ala)
|
rs766918221
|
|
NM_000143.4(FH):c.1058T>C (p.Leu353Pro)
|
|
|
NM_000143.4(FH):c.1061G>A (p.Gly354Glu)
|
rs1057523184
|
|
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.1085A>G (p.Glu362Gly)
|
|
|
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
|
|
|
NM_000143.4(FH):c.1109-4G>C
|
|
|
NM_000143.4(FH):c.110G>C (p.Trp37Ser)
|
rs1660318244
|
|
NM_000143.4(FH):c.111G>T (p.Trp37Cys)
|
rs1573889881
|
|
NM_000143.4(FH):c.1123A>C (p.Thr375Pro)
|
|
|
NM_000143.4(FH):c.1136C>A (p.Ala379Glu)
|
rs2147914999
|
|
NM_000143.4(FH):c.1151C>T (p.Ala384Val)
|
rs904463039
|
|
NM_000143.4(FH):c.1162A>G (p.Met388Val)
|
rs1573879331
|
|
NM_000143.4(FH):c.1163T>C (p.Met388Thr)
|
rs876660830
|
|
NM_000143.4(FH):c.1171C>T (p.His391Tyr)
|
|
|
NM_000143.4(FH):c.1187_1188delinsCT (p.Val396Ala)
|
|
|
NM_000143.4(FH):c.1198A>G (p.Asn400Asp)
|
rs1131691247
|
|
NM_000143.4(FH):c.11C>A (p.Ala4Glu)
|
rs1252151546
|
|
NM_000143.4(FH):c.1200T>G (p.Asn400Lys)
|
rs1659805291
|
|
NM_000143.4(FH):c.1216A>G (p.Asn406Asp)
|
rs876659362
|
|
NM_000143.4(FH):c.1219G>A (p.Val407Ile)
|
|
|
NM_000143.4(FH):c.121G>A (p.Ala41Thr)
|
|
|
NM_000143.4(FH):c.1228C>T (p.Pro410Ser)
|
rs2147914837
|
|
NM_000143.4(FH):c.1237-3A>G
|
rs2147913409
|
|
NM_000143.4(FH):c.1237-5C>G
|
rs200926050
|
|
NM_000143.4(FH):c.1251A>C (p.Leu417Phe)
|
rs1573878136
|
|
NM_000143.4(FH):c.1252C>A (p.His418Asn)
|
|
|
NM_000143.4(FH):c.1252C>T (p.His418Tyr)
|
|
|
NM_000143.4(FH):c.1262G>T (p.Arg421Met)
|
rs1659747962
|
|
NM_000143.4(FH):c.1267C>G (p.Leu423Val)
|
|
|
NM_000143.4(FH):c.1280C>T (p.Ser427Leu)
|
rs1573878095
|
|
NM_000143.4(FH):c.128G>C (p.Arg43Pro)
|
|
|
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.1306G>A (p.Val436Met)
|
rs1324526971
|
|
NM_000143.4(FH):c.1306G>C (p.Val436Leu)
|
|
|
NM_000143.4(FH):c.1306G>T (p.Val436Leu)
|
rs1324526971
|
|
NM_000143.4(FH):c.1307T>C (p.Val436Ala)
|
|
|
NM_000143.4(FH):c.1319C>G (p.Ala440Gly)
|
|
|
NM_000143.4(FH):c.132+4A>G
|
|
|
NM_000143.4(FH):c.1325C>G (p.Thr442Arg)
|
rs1060500899
|
|
NM_000143.4(FH):c.1325C>T (p.Thr442Ile)
|
|
|
NM_000143.4(FH):c.1338C>G (p.Asn446Lys)
|
rs113572177
|
|
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.1345A>T (p.Met449Leu)
|
|
|
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.1360A>G (p.Met454Val)
|
|
|
NM_000143.4(FH):c.1366G>C (p.Val456Leu)
|
rs200244096
|
|
NM_000143.4(FH):c.1379A>G (p.Asn460Ser)
|
rs767253363
|
|
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+3A>G
|
|
|
NM_000143.4(FH):c.1390G>A (p.Gly464Arg)
|
rs1573877922
|
|
NM_000143.4(FH):c.1391-6C>G
|
|
|
NM_000143.4(FH):c.1391G>A (p.Gly464Glu)
|
rs1131691250
|
|
NM_000143.4(FH):c.13C>T (p.Leu5Phe)
|
rs1553342165
|
|
NM_000143.4(FH):c.1403C>T (p.Ala468Val)
|
|
|
NM_000143.4(FH):c.1411A>G (p.Ile471Val)
|
|
|
NM_000143.4(FH):c.1414G>A (p.Ala472Thr)
|
|
|
NM_000143.4(FH):c.1420A>G (p.Thr474Ala)
|
|
|
NM_000143.4(FH):c.1421C>T (p.Thr474Ile)
|
rs369802820
|
|
NM_000143.4(FH):c.1435G>A (p.Gly479Arg)
|
|
|
NM_000143.4(FH):c.143A>G (p.Asn48Ser)
|
|
|
NM_000143.4(FH):c.1446A>C (p.Leu482Phe)
|
rs863223979
|
|
NM_000143.4(FH):c.1450G>A (p.Glu484Lys)
|
|
|
NM_000143.4(FH):c.1459A>G (p.Ile487Val)
|
rs1391195810
|
|
NM_000143.4(FH):c.1459A>T (p.Ile487Phe)
|
|
|
NM_000143.4(FH):c.1474C>G (p.Leu492Val)
|
rs1659663430
|
|
NM_000143.4(FH):c.1480G>A (p.Ala494Thr)
|
|
|
NM_000143.4(FH):c.1480G>C (p.Ala494Pro)
|
rs1553340508
|
|
NM_000143.4(FH):c.1481C>T (p.Ala494Val)
|
rs752369363
|
|
NM_000143.4(FH):c.1489T>C (p.Phe497Leu)
|
rs2147911216
|
|
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.1500G>C (p.Trp500Cys)
|
|
|
NM_000143.4(FH):c.1508C>G (p.Pro503Arg)
|
rs1659661748
|
|
NM_000143.4(FH):c.1522G>A (p.Gly508Ser)
|
|
|
NM_000143.4(FH):c.1523G>A (p.Gly508Asp)
|
|
|
NM_000143.4(FH):c.1526C>T (p.Pro509Leu)
|
rs1553340499
|
|
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.163_165del (p.Asp55del)
|
|
|
NM_000143.4(FH):c.166A>G (p.Thr56Ala)
|
rs1232573732
|
|
NM_000143.4(FH):c.167C>T (p.Thr56Ile)
|
rs1433872618
|
|
NM_000143.4(FH):c.16C>G (p.Arg6Gly)
|
|
|
NM_000143.4(FH):c.172G>A (p.Gly58Ser)
|
rs11545659
|
|
NM_000143.4(FH):c.173G>A (p.Gly58Asp)
|
|
|
NM_000143.4(FH):c.177A>C (p.Glu59Asp)
|
|
|
NM_000143.4(FH):c.188C>T (p.Pro63Leu)
|
|
|
NM_000143.4(FH):c.194A>T (p.Asp65Val)
|
rs145116688
|
|
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
|
rs1660243497
|
|
NM_000143.4(FH):c.199TAT[1] (p.Tyr68del)
|
rs1573888450
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.1A>T (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.200A>G (p.Tyr67Cys)
|
|
|
NM_000143.4(FH):c.202T>C (p.Tyr68His)
|
rs1189016440
|
|
NM_000143.4(FH):c.205G>A (p.Gly69Ser)
|
|
|
NM_000143.4(FH):c.209C>T (p.Ala70Val)
|
rs1573888433
|
|
NM_000143.4(FH):c.217G>C (p.Val73Leu)
|
|
|
NM_000143.4(FH):c.226A>G (p.Thr76Ala)
|
|
|
NM_000143.4(FH):c.229A>G (p.Met77Val)
|
|
|
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.23T>G (p.Leu8Arg)
|
|
|
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.265C>T (p.Pro89Ser)
|
|
|
NM_000143.4(FH):c.268-2A>G
|
rs1064793741
|
|
NM_000143.4(FH):c.268A>G (p.Thr90Ala)
|
|
|
NM_000143.4(FH):c.272C>T (p.Pro91Leu)
|
rs1455612736
|
|
NM_000143.4(FH):c.299A>G (p.Lys100Arg)
|
|
|
NM_000143.4(FH):c.29G>T (p.Arg10Leu)
|
|
|
NM_000143.4(FH):c.2T>A (p.Met1Lys)
|
rs201261794
|
|
NM_000143.4(FH):c.2T>C (p.Met1Thr)
|
rs201261794
|
|
NM_000143.4(FH):c.307G>T (p.Ala103Ser)
|
|
|
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.337G>T (p.Asp113Tyr)
|
|
|
NM_000143.4(FH):c.339T>A (p.Asp113Glu)
|
rs1029743950
|
|
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.356C>T (p.Ala119Val)
|
rs1395827785
|
|
NM_000143.4(FH):c.359T>C (p.Ile120Thr)
|
|
|
NM_000143.4(FH):c.367G>A (p.Ala123Thr)
|
|
|
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.38C>T (p.Pro13Leu)
|
rs1190505598
|
|
NM_000143.4(FH):c.393A>G (p.Lys131=)
|
|
|
NM_000143.4(FH):c.393A>T (p.Lys131Asn)
|
rs2147922022
|
|
NM_000143.4(FH):c.402T>G (p.Asp134Glu)
|
|
|
NM_000143.4(FH):c.409C>G (p.Pro137Ala)
|
|
|
NM_000143.4(FH):c.40dup (p.Leu14fs)
|
rs1060500900
|
|
NM_000143.4(FH):c.410C>G (p.Pro137Arg)
|
rs1660101853
|
|
NM_000143.4(FH):c.415G>T (p.Val139Leu)
|
|
|
NM_000143.4(FH):c.416T>G (p.Val139Gly)
|
rs1573885528
|
|
NM_000143.4(FH):c.418G>A (p.Val140Ile)
|
|
|
NM_000143.4(FH):c.418G>C (p.Val140Leu)
|
rs746195750
|
|
NM_000143.4(FH):c.43G>C (p.Val15Leu)
|
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.452T>C (p.Met151Thr)
|
rs1660099266
|
|
NM_000143.4(FH):c.458T>C (p.Val153Ala)
|
|
|
NM_000143.4(FH):c.47G>C (p.Arg16Pro)
|
rs762310232
|
|
NM_000143.4(FH):c.481G>A (p.Ala161Thr)
|
rs1573885421
|
|
NM_000143.4(FH):c.482C>T (p.Ala161Val)
|
rs1307815197
|
|
NM_000143.4(FH):c.485T>C (p.Ile162Thr)
|
|
|
NM_000143.4(FH):c.486T>G (p.Ile162Met)
|
|
|
NM_000143.4(FH):c.496G>A (p.Gly166Arg)
|
rs1660097824
|
|
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.508G>T (p.Gly170Cys)
|
rs1573885366
|
|
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.520C>A (p.Pro174Thr)
|
rs1553341598
|
|
NM_000143.4(FH):c.52C>G (p.Pro18Ala)
|
rs1660321288
|
|
NM_000143.4(FH):c.535G>A (p.Asp179Asn)
|
rs1553341588
|
|
NM_000143.4(FH):c.536A>G (p.Asp179Gly)
|
rs2147921775
|
|
NM_000143.4(FH):c.547A>G (p.Lys183Glu)
|
rs2147921763
|
|
NM_000143.4(FH):c.555+3C>T
|
|
|
NM_000143.4(FH):c.555+4A>C
|
|
|
NM_000143.4(FH):c.556-11A>G
|
|
|
NM_000143.4(FH):c.556-3C>T
|
|
|
NM_000143.4(FH):c.556A>T (p.Ser186Cys)
|
rs1131691233
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.586C>T (p.His196Tyr)
|
rs1553341363
|
|
NM_000143.4(FH):c.587A>G (p.His196Arg)
|
rs763601207
|
|
NM_000143.4(FH):c.58G>C (p.Ala20Pro)
|
|
|
NM_000143.4(FH):c.593C>G (p.Ala198Gly)
|
rs1414507017
|
|
NM_000143.4(FH):c.596C>A (p.Ala199Asp)
|
|
|
NM_000143.4(FH):c.598G>A (p.Ala200Thr)
|
|
|
NM_000143.4(FH):c.59C>T (p.Ala20Val)
|
rs1573889953
|
|
NM_000143.4(FH):c.602T>C (p.Ile201Thr)
|
rs1476664795
|
|
NM_000143.4(FH):c.604G>A (p.Glu202Lys)
|
|
|
NM_000143.4(FH):c.610C>A (p.His204Asn)
|
rs863223996
|
|
NM_000143.4(FH):c.612T>G (p.His204Gln)
|
rs1424868653
|
|
NM_000143.4(FH):c.62C>T (p.Ala21Val)
|
rs1131691251
|
|
NM_000143.4(FH):c.644A>G (p.His215Arg)
|
|
|
NM_000143.4(FH):c.644A>T (p.His215Leu)
|
rs770141324
|
|
NM_000143.4(FH):c.646G>T (p.Asp216Tyr)
|
|
|
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.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.667A>G (p.Lys223Glu)
|
|
|
NM_000143.4(FH):c.668A>C (p.Lys223Thr)
|
rs1064795294
|
|
NM_000143.4(FH):c.671A>T (p.Glu224Val)
|
|
|
NM_000143.4(FH):c.674T>C (p.Phe225Ser)
|
rs149651434
|
|
NM_000143.4(FH):c.677C>A (p.Ala226Glu)
|
rs778786425
|
|
NM_000143.4(FH):c.679C>G (p.Gln227Glu)
|
|
|
NM_000143.4(FH):c.67G>A (p.Ala23Thr)
|
rs1573889943
|
|
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
|
|
|
NM_000143.4(FH):c.681G>T (p.Gln227His)
|
|
|
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.692T>C (p.Ile231Thr)
|
rs1335587342
|
|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
|
rs199971078
|
|
NM_000143.4(FH):c.707C>T (p.Thr236Ile)
|
rs773382103
|
|
NM_000143.4(FH):c.710A>G (p.Gln237Arg)
|
|
|
NM_000143.4(FH):c.712G>C (p.Asp238His)
|
|
|
NM_000143.4(FH):c.718G>T (p.Val240Phe)
|
|
|
NM_000143.4(FH):c.71C>T (p.Ser24Leu)
|
|
|
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.731T>G (p.Leu244Arg)
|
rs1060499636
|
|
NM_000143.4(FH):c.733G>A (p.Gly245Arg)
|
rs1287444534
|
|
NM_000143.4(FH):c.734G>A (p.Gly245Glu)
|
|
|
NM_000143.4(FH):c.738+4T>G
|
rs1203519378
|
|
NM_000143.4(FH):c.740A>G (p.Glu247Gly)
|
|
|
NM_000143.4(FH):c.749G>A (p.Gly250Asp)
|
|
|
NM_000143.4(FH):c.749G>T (p.Gly250Val)
|
rs951611697
|
|
NM_000143.4(FH):c.74C>A (p.Ala25Asp)
|
|
|
NM_000143.4(FH):c.764T>G (p.Val255Gly)
|
|
|
NM_000143.4(FH):c.770A>G (p.Tyr257Cys)
|
|
|
NM_000143.4(FH):c.773C>T (p.Ala258Val)
|
rs1553341166
|
|
NM_000143.4(FH):c.777G>A (p.Met259Ile)
|
rs1044975651
|
|
NM_000143.4(FH):c.782G>T (p.Arg261Ile)
|
rs61736558
|
|
NM_000143.4(FH):c.782_784del (p.Arg261del)
|
|
|
NM_000143.4(FH):c.785T>G (p.Ile262Arg)
|
rs786203177
|
|
NM_000143.4(FH):c.796A>T (p.Met266Leu)
|
|
|
NM_000143.4(FH):c.7C>T (p.Arg3Ter)
|
rs202166344
|
|
NM_000143.4(FH):c.812A>G (p.Glu271Gly)
|
|
|
NM_000143.4(FH):c.814C>A (p.Leu272Ile)
|
rs779019570
|
|
NM_000143.4(FH):c.818C>T (p.Ala273Val)
|
rs1573881663
|
|
NM_000143.4(FH):c.820G>T (p.Ala274Ser)
|
|
|
NM_000143.4(FH):c.835G>A (p.Val279Ile)
|
|
|
NM_000143.4(FH):c.857G>A (p.Arg286Lys)
|
|
|
NM_000143.4(FH):c.866T>C (p.Phe289Ser)
|
|
|
NM_000143.4(FH):c.86G>T (p.Gly29Val)
|
|
|
NM_000143.4(FH):c.871G>A (p.Glu291Lys)
|
|
|
NM_000143.4(FH):c.872A>C (p.Glu291Ala)
|
|
|
NM_000143.4(FH):c.874A>C (p.Lys292Gln)
|
rs771087739
|
|
NM_000143.4(FH):c.874A>G (p.Lys292Glu)
|
|
|
NM_000143.4(FH):c.880G>A (p.Ala294Thr)
|
rs1659920259
|
|
NM_000143.4(FH):c.892G>T (p.Ala298Ser)
|
|
|
NM_000143.4(FH):c.893C>G (p.Ala298Gly)
|
rs1573881563
|
|
NM_000143.4(FH):c.898C>G (p.Leu300Val)
|
|
|
NM_000143.4(FH):c.89G>A (p.Gly30Asp)
|
|
|
NM_000143.4(FH):c.8G>C (p.Arg3Pro)
|
rs1573890051
|
|
NM_000143.4(FH):c.902C>G (p.Thr301Arg)
|
|
|
NM_000143.4(FH):c.904+2dup
|
rs1573881536
|
|
NM_000143.4(FH):c.904+4A>C
|
rs1573881535
|
|
NM_000143.4(FH):c.904G>A (p.Gly302Ser)
|
rs200412958
|
|
NM_000143.4(FH):c.904G>C (p.Gly302Arg)
|
|
|
NM_000143.4(FH):c.905-5T>G
|
rs886046318
|
|
NM_000143.4(FH):c.907T>A (p.Leu303Met)
|
|
|
NM_000143.4(FH):c.911C>G (p.Pro304Arg)
|
rs200491078
|
|
NM_000143.4(FH):c.91G>A (p.Ala31Thr)
|
|
|
NM_000143.4(FH):c.92C>T (p.Ala31Val)
|
rs876659347
|
|
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>T (p.Ala32Ser)
|
rs1371664717
|
|
NM_000143.4(FH):c.953A>G (p.His318Arg)
|
|
|
NM_000143.4(FH):c.958G>A (p.Ala320Thr)
|
|
|
NM_000143.4(FH):c.958G>T (p.Ala320Ser)
|
rs766441385
|
|
NM_000143.4(FH):c.973A>G (p.Ser325Gly)
|
|
|
NM_000143.4(FH):c.973A>T (p.Ser325Cys)
|
rs201124581
|
|
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.984G>A (p.Met328Ile)
|
|
|
NM_000143.4(FH):c.988A>G (p.Thr330Ala)
|
rs776313200
|
|
NM_000143.4(FH):c.991A>G (p.Thr331Ala)
|
rs1459131048
|
|