NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
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.797T>C (p.Met266Thr)
|
rs764648497
|
0.00002
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.1204C>T (p.His402Tyr)
|
rs760360724
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.415G>A (p.Val139Met)
|
rs200343823
|
0.00001
|
NM_000143.4(FH):c.431G>A (p.Gly144Glu)
|
rs1057521425
|
0.00001
|
NM_000143.4(FH):c.514A>G (p.Lys172Glu)
|
rs201154463
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NC_000001.11:g.(?_241508593)_(241513723_?)del
|
|
|
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)
|
rs587782216
|
|
NM_000143.4(FH):c.1002T>G (p.Ser334Arg)
|
rs2147916185
|
|
NM_000143.4(FH):c.1007T>G (p.Met336Arg)
|
rs863223972
|
|
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.1021G>A (p.Asp341Asn)
|
rs11545655
|
|
NM_000143.4(FH):c.1064A>T (p.Glu355Val)
|
|
|
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)
|
rs727503927
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1084G>C (p.Glu362Gln)
|
rs121913119
|
|
NM_000143.4(FH):c.1094G>A (p.Ser365Asn)
|
rs1131691238
|
|
NM_000143.4(FH):c.1097G>A (p.Ser366Asn)
|
rs863224004
|
|
NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu)
|
rs863223987
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1108+2T>A
|
|
|
NM_000143.4(FH):c.1109-1G>C
|
rs1298313966
|
|
NM_000143.4(FH):c.1112A>G (p.Lys371Arg)
|
rs863224005
|
|
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
|
|
|
NM_000143.4(FH):c.1120C>A (p.Pro374Thr)
|
rs876660446
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1129T>C (p.Cys377Arg)
|
rs398123161
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1145T>C (p.Met382Thr)
|
rs2147914987
|
|
NM_000143.4(FH):c.1146G>A (p.Met382Ile)
|
rs863224006
|
|
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
|
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1158A>C (p.Gln386His)
|
rs2147914951
|
|
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)
|
rs1659807516
|
|
NM_000143.4(FH):c.1165G>A (p.Gly389Arg)
|
|
|
NM_000143.4(FH):c.1169A>G (p.Asn390Ser)
|
rs1178007598
|
|
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
|
|
|
NM_000143.4(FH):c.1192G>A (p.Gly398Ser)
|
|
|
NM_000143.4(FH):c.1202G>A (p.Gly401Glu)
|
rs1573879289
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1205A>T (p.His402Leu)
|
rs886039366
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.1236+2T>A
|
|
|
NM_000143.4(FH):c.1236+2T>C
|
|
|
NM_000143.4(FH):c.1237-11C>G
|
rs2147913449
|
|
NM_000143.4(FH):c.1237-1G>C
|
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1250T>G (p.Leu417Ter)
|
rs1553340709
|
|
NM_000143.4(FH):c.1250_1251insTAATGTGT (p.Leu417fs)
|
|
|
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
|
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
|
|
|
NM_000143.4(FH):c.1274A>T (p.Asp425Val)
|
rs1038324354
|
|
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
|
|
|
NM_000143.4(FH):c.127C>T (p.Arg43Ter)
|
rs200496951
|
|
NM_000143.4(FH):c.1283_1294del (p.Val428_Thr431del)
|
|
|
NM_000143.4(FH):c.1302C>A (p.Cys434Ter)
|
rs2070080
|
|
NM_000143.4(FH):c.132+5G>A
|
rs1060499627
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1390+2T>C
|
rs1558396285
|
|
NM_000143.4(FH):c.1391-1G>T
|
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1391-2del
|
rs1064795320
|
|
NM_000143.4(FH):c.1391G>T (p.Gly464Val)
|
rs1131691250
|
|
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)
|
rs863224012
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.1446A>C (p.Leu482Phe)
|
rs863223979
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
NM_000143.4(FH):c.1478del (p.Thr493fs)
|
rs2147911225
|
|
NM_000143.4(FH):c.1483G>T (p.Glu495Ter)
|
|
|
NM_000143.4(FH):c.1486C>T (p.Gln496Ter)
|
rs1553340506
|
|
NM_000143.4(FH):c.1519_1521del (p.Leu507del)
|
|
|
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
|
|
|
NM_000143.4(FH):c.1520T>C (p.Leu507Pro)
|
rs1425094515
|
|
NM_000143.4(FH):c.152G>A (p.Arg51Gln)
|
rs976734433
|
|
NM_000143.4(FH):c.152G>C (p.Arg51Pro)
|
rs976734433
|
|
NM_000143.4(FH):c.157G>A (p.Glu53Lys)
|
rs863224013
|
|
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
|
rs1660243497
|
|
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.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.224del (p.Ser75fs)
|
rs1660242061
|
|
NM_000143.4(FH):c.263T>A (p.Met88Lys)
|
rs763390436
|
|
NM_000143.4(FH):c.266_267+1delinsATT
|
|
|
NM_000143.4(FH):c.268-2A>G
|
rs1064793741
|
|
NM_000143.4(FH):c.268-3_268-2del
|
rs2147923117
|
|
NM_000143.4(FH):c.275TTA[1] (p.Ile93del)
|
rs1573886490
|
|
NM_000143.4(FH):c.284C>A (p.Ala95Asp)
|
|
|
NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs)
|
|
|
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.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000143.4(FH):c.32C>A (p.Ser11Ter)
|
|
|
NM_000143.4(FH):c.337del (p.Asp113fs)
|
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.378+2T>C
|
rs1131691241
|
|
NM_000143.4(FH):c.378G>C (p.Glu126Asp)
|
rs1573886367
|
|
NM_000143.4(FH):c.379-1G>C
|
rs1553341623
|
|
NM_000143.4(FH):c.3G>A (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.3G>C (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.40_41insG (p.Leu14fs)
|
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.437G>A (p.Gly146Glu)
|
rs11545654
|
|
NM_000143.4(FH):c.439A>G (p.Thr147Ala)
|
rs863223983
|
|
NM_000143.4(FH):c.448A>G (p.Asn150Asp)
|
rs1660099527
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.462T>G (p.Asn154Lys)
|
rs2147921891
|
|
NM_000143.4(FH):c.470T>G (p.Ile157Ser)
|
rs2147921876
|
|
NM_000143.4(FH):c.478A>G (p.Arg160Gly)
|
rs878853694
|
|
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
|
|
|
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
|
|
|
NM_000143.4(FH):c.482C>A (p.Ala161Glu)
|
|
|
NM_000143.4(FH):c.490del (p.Met164fs)
|
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.521C>A (p.Pro174His)
|
rs199822819
|
|
NM_000143.4(FH):c.524T>G (p.Val175Gly)
|
|
|
NM_000143.4(FH):c.527A>G (p.His176Arg)
|
rs1158759883
|
|
NM_000143.4(FH):c.530C>G (p.Pro177Arg)
|
rs2147921795
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.539A>T (p.His180Leu)
|
rs863224015
|
|
NM_000143.4(FH):c.554A>C (p.Gln185Pro)
|
rs779707997
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.555+1G>A
|
rs1375252870
|
|
NM_000143.4(FH):c.555+5G>A
|
|
|
NM_000143.4(FH):c.555+5G>C
|
rs1553341582
|
|
NM_000143.4(FH):c.556-2A>C
|
|
|
NM_000143.4(FH):c.556-2A>G
|
rs750273092
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.556-9_556-2del
|
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.562A>G (p.Asn188Asp)
|
|
|
NM_000143.4(FH):c.563A>T (p.Asn188Ile)
|
rs2147919711
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.574C>G (p.Pro192Ala)
|
rs1573883345
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.575C>T (p.Pro192Leu)
|
rs1573883342
|
|
NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)
|
rs1060499635
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.589A>T (p.Ile197Phe)
|
rs201764931
|
|
NM_000143.4(FH):c.591TGC[2] (p.Ala200del)
|
rs786202907
|
|
NM_000143.4(FH):c.653T>G (p.Leu218Arg)
|
rs1553341345
|
|
NM_000143.4(FH):c.65T>A (p.Leu22Ter)
|
rs1031919395
|
|
NM_000143.4(FH):c.664T>C (p.Ser222Pro)
|
rs1448268784
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.690G>C (p.Lys230Asn)
|
rs2147919465
|
|
NM_000143.4(FH):c.697C>G (p.Arg233Gly)
|
rs587781682
|
|
NM_000143.4(FH):c.698G>C (p.Arg233Pro)
|
rs121913123
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
|
rs199971078
|
|
NM_000143.4(FH):c.700A>C (p.Thr234Pro)
|
rs372505976
|
|
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
|
|
|
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
|
|
|
NM_000143.4(FH):c.703C>A (p.His235Asn)
|
|
|
NM_000143.4(FH):c.703C>G (p.His235Asp)
|
rs863223968
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.705T>G (p.His235Gln)
|
rs919993170
|
|
NM_000143.4(FH):c.706A>G (p.Thr236Ala)
|
rs1064793126
|
|
NM_000143.4(FH):c.712G>C (p.Asp238His)
|
|
|
NM_000143.4(FH):c.731T>G (p.Leu244Arg)
|
rs1060499636
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
NM_000143.4(FH):c.738G>C (p.Gln246His)
|
rs2147919372
|
|
NM_000143.4(FH):c.739-2A>G
|
rs1553341174
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.7C>T (p.Arg3Ter)
|
rs202166344
|
|
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)
|
rs1553341163
|
|
NM_000143.4(FH):c.816_836del (p.Ala273_Val279del)
|
rs863223985
|
|
NM_000143.4(FH):c.81delinsAT (p.Leu28fs)
|
rs1553342155
|
|
NM_000143.4(FH):c.820G>C (p.Ala274Pro)
|
rs1060499638
|
|
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
|
rs2147917609
|
|
NM_000143.4(FH):c.827G>T (p.Gly276Val)
|
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
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NM_000143.4(FH):c.839del (p.Gly280fs)
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NM_000143.4(FH):c.842C>G (p.Thr281Arg)
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NM_000143.4(FH):c.844G>C (p.Gly282Arg)
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rs1573881629
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NM_000143.4(FH):c.845G>T (p.Gly282Val)
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rs935002190
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NM_000143.4(FH):c.892G>C (p.Ala298Pro)
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rs201395553
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NM_000143.4(FH):c.893C>T (p.Ala298Val)
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NM_000143.4(FH):c.893_904+7del
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rs1573881533
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NM_000143.4(FH):c.904+1G>A
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rs1553341148
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NM_000143.4(FH):c.904+1G>T
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rs1553341148
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NM_000143.4(FH):c.905-1G>A
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rs797044973
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NM_000143.4(FH):c.905-1G>C
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rs797044973
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NM_000143.4(FH):c.915T>G (p.Phe305Leu)
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rs2147916371
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NM_000143.4(FH):c.923C>T (p.Ala308Val)
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NM_000143.4(FH):c.934T>C (p.Phe312Leu)
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rs863224000
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NM_000143.4(FH):c.934T>G (p.Phe312Val)
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rs863224000
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NM_000143.4(FH):c.935T>C (p.Phe312Ser)
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rs1553341046
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NM_000143.4(FH):c.935T>G (p.Phe312Cys)
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rs1553341046
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NM_000143.4(FH):c.936T>G (p.Phe312Leu)
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rs2147916319
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NM_000143.4(FH):c.937G>A (p.Glu313Lys)
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rs863224001
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NM_000143.4(FH):c.944T>C (p.Leu315Pro)
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rs1573880531
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NM_000143.4(FH):c.947C>A (p.Ala316Asp)
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rs863224002
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NM_000143.4(FH):c.947C>T (p.Ala316Val)
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NM_000143.4(FH):c.950C>T (p.Ala317Val)
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rs2147916281
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NM_000143.4(FH):c.952C>T (p.His318Tyr)
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rs398123168
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NM_000143.4(FH):c.954_956dup (p.Asp319_Ala320insAsp)
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NM_000143.4(FH):c.955G>T (p.Asp319Tyr)
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NM_000143.4(FH):c.956A>T (p.Asp319Val)
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NM_000143.4(FH):c.965T>A (p.Val322Asp)
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NM_000143.4(FH):c.965T>G (p.Val322Gly)
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rs863224003
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NM_000143.4(FH):c.967G>A (p.Glu323Lys)
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rs2147916256
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NM_000143.4(FH):c.977G>A (p.Gly326Glu)
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rs1553341037
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NM_000143.4(FH):c.988A>C (p.Thr330Pro)
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rs776313200
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NM_000143.4(FH):c.994G>C (p.Ala332Pro)
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NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
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rs1553341032
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