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.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000143.4(FH):c.65T>G (p.Leu22Ter)
|
rs1031919395
|
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.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.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.431G>A (p.Gly144Glu)
|
rs1057521425
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.697C>T (p.Arg233Cys)
|
rs587781682
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
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_000001.10:g.(?_241661128)_(241661280_?)del
|
|
|
NC_000001.10:g.(?_241661128)_(241667555_?)del
|
|
|
NC_000001.10:g.(?_241663727)_(241663900_?)del
|
|
|
NC_000001.10:g.(?_241665733)_(241667555_?)del
|
|
|
NC_000001.10:g.(?_241680472)_(241683022_?)del
|
|
|
NC_000001.10:g.(?_241682881)_(241683022_?)del
|
|
|
NC_000001.11:g.(?_241497557)_(241504245_?)del
|
|
|
NC_000001.11:g.(?_241497818)_(241502580_?)del
|
|
|
NC_000001.11:g.(?_241497818)_(241504255_?)del
|
|
|
NC_000001.11:g.(?_241497818)_(241508795_?)del
|
|
|
NC_000001.11:g.(?_241497818)_(241512153_?)del
|
|
|
NC_000001.11:g.(?_241505993)_(241506178_?)del
|
|
|
NC_000001.11:g.(?_241505993)_(241506183_?)del
|
|
|
NC_000001.11:g.(?_241505997)_(241506174_?)del
|
|
|
NC_000001.11:g.(?_241519581)_(241519732_?)del
|
|
|
NC_000001.11:g.(?_241519585)_(241519728_?)del
|
|
|
NC_000001.11:g.241497971del
|
rs2147911365
|
|
NM_000143.4(FH):c.1000dup (p.Ser334fs)
|
rs1659853029
|
|
NM_000143.4(FH):c.1015del (p.Ala339fs)
|
|
|
NM_000143.4(FH):c.1019del (p.Asn340fs)
|
|
|
NM_000143.4(FH):c.1021G>A (p.Asp341Asn)
|
rs11545655
|
|
NM_000143.4(FH):c.1022A>G (p.Asp341Gly)
|
rs1060499640
|
|
NM_000143.4(FH):c.1023T>G (p.Asp341Glu)
|
rs863223973
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1028del (p.Arg343fs)
|
rs1553341026
|
|
NM_000143.4(FH):c.102_120del (p.Ser35fs)
|
rs2147926843
|
|
NM_000143.4(FH):c.102del (p.Ser35fs)
|
rs2147926893
|
|
NM_000143.4(FH):c.102dup (p.Ser35fs)
|
|
|
NM_000143.4(FH):c.1037G>A (p.Gly346Asp)
|
rs2147916135
|
|
NM_000143.4(FH):c.1039T>C (p.Ser347Pro)
|
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1052C>A (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1052C>G (p.Ser351Ter)
|
rs1060500896
|
|
NM_000143.4(FH):c.1058_1108+19del
|
|
|
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)
|
rs1060499642
|
|
NM_000143.4(FH):c.1082del (p.Asn361fs)
|
rs1553341012
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
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.109del (p.Trp37fs)
|
rs2147926875
|
|
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
|
|
|
NM_000143.4(FH):c.1108+1G>A
|
rs1057517734
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1112del (p.Lys371fs)
|
rs1060500904
|
|
NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer)
|
rs781466938
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1156C>T (p.Gln386Ter)
|
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1165_1174del (p.Gly389fs)
|
rs1573879313
|
|
NM_000143.4(FH):c.1167del (p.Asn390fs)
|
|
|
NM_000143.4(FH):c.1176_1181del (p.Ala393_Val394del)
|
rs1659806431
|
|
NM_000143.4(FH):c.1177G>C (p.Ala393Pro)
|
rs2147914910
|
|
NM_000143.4(FH):c.1196G>A (p.Ser399Asn)
|
rs1659805662
|
|
NM_000143.4(FH):c.1205A>G (p.His402Arg)
|
rs886039366
|
|
NM_000143.4(FH):c.1205del (p.His402fs)
|
rs1558397011
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.120_130del (p.Ala41fs)
|
rs1573889860
|
|
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)
|
rs797044974
|
|
NM_000143.4(FH):c.1236+1G>A
|
rs1131691249
|
|
NM_000143.4(FH):c.1236+1G>C
|
rs1131691249
|
|
NM_000143.4(FH):c.1238_1239dup (p.Lys414fs)
|
|
|
NM_000143.4(FH):c.1240A>T (p.Lys414Ter)
|
rs1573878145
|
|
NM_000143.4(FH):c.1247del (p.Val416fs)
|
rs2147913368
|
|
NM_000143.4(FH):c.1251dup (p.His418fs)
|
rs1553340708
|
|
NM_000143.4(FH):c.1259_1262dup (p.Arg421fs)
|
rs2147913317
|
|
NM_000143.4(FH):c.1267_1268delinsG (p.Leu423fs)
|
|
|
NM_000143.4(FH):c.1269_1278del (p.Gly424fs)
|
|
|
NM_000143.4(FH):c.127C>T (p.Arg43Ter)
|
rs200496951
|
|
NM_000143.4(FH):c.1280del (p.Ala426_Ser427insTer)
|
rs2147913263
|
|
NM_000143.4(FH):c.1287del (p.Phe430fs)
|
rs1659746788
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)
|
rs1553340686
|
|
NM_000143.4(FH):c.1298del (p.Asn433fs)
|
|
|
NM_000143.4(FH):c.1300T>C (p.Cys434Arg)
|
rs1659745968
|
|
NM_000143.4(FH):c.1302_1303del (p.Val435fs)
|
|
|
NM_000143.4(FH):c.1310del (p.Gly437fs)
|
rs2147913184
|
|
NM_000143.4(FH):c.1327G>T (p.Glu443Ter)
|
rs1553340687
|
|
NM_000143.4(FH):c.1328_1331dup (p.Ile445fs)
|
rs1573878004
|
|
NM_000143.4(FH):c.132G>A (p.Met44Ile)
|
rs863223982
|
|
NM_000143.4(FH):c.1330A>G (p.Arg444Gly)
|
rs749266351
|
|
NM_000143.4(FH):c.1339A>T (p.Lys447Ter)
|
rs863223977
|
|
NM_000143.4(FH):c.1346del (p.Met449fs)
|
|
|
NM_000143.4(FH):c.1347del (p.Met449fs)
|
rs1060500903
|
|
NM_000143.4(FH):c.1351G>T (p.Glu451Ter)
|
rs1558396320
|
|
NM_000143.4(FH):c.1358T>C (p.Leu453Pro)
|
rs2147913041
|
|
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)
|
rs863223992
|
|
NM_000143.4(FH):c.1391-1G>A
|
rs863223978
|
|
NM_000143.4(FH):c.1391-1G>C
|
rs863223978
|
|
NM_000143.4(FH):c.1391-1_1391delinsTT
|
rs2147911367
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1391-2A>G
|
rs863224008
|
|
NM_000143.4(FH):c.1391-2A>T
|
rs863224008
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.1400dup (p.Ala468fs)
|
rs863223993
|
|
NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)
|
rs863223994
|
|
NM_000143.4(FH):c.1435G>T (p.Gly479Ter)
|
rs1573876584
|
|
NM_000143.4(FH):c.1437_1443del (p.Gly479_Ser480insTer)
|
|
|
NM_000143.4(FH):c.1439C>G (p.Ser480Ter)
|
rs1131691245
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.1450G>T (p.Glu484Ter)
|
|
|
NM_000143.4(FH):c.1456_1458del (p.Ala486del)
|
rs2147911262
|
|
NM_000143.4(FH):c.1457C>A (p.Ala486Asp)
|
rs2147911265
|
|
NM_000143.4(FH):c.1457del (p.Ala486fs)
|
rs2147911268
|
|
NM_000143.4(FH):c.1462del (p.Glu488fs)
|
|
|
NM_000143.4(FH):c.1469del (p.Gly490fs)
|
rs1060499645
|
|
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)
|
rs886041201
|
|
NM_000143.4(FH):c.1478del (p.Thr493fs)
|
rs2147911225
|
|
NM_000143.4(FH):c.1484_1488del (p.Glu495fs)
|
rs1060500907
|
|
NM_000143.4(FH):c.1495G>T (p.Glu499Ter)
|
|
|
NM_000143.4(FH):c.1497del (p.Glu499fs)
|
rs1659662318
|
|
NM_000143.4(FH):c.1499G>A (p.Trp500Ter)
|
rs2147911203
|
|
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.174_177dup (p.Leu60Ter)
|
rs1131691246
|
|
NM_000143.4(FH):c.175G>T (p.Glu59Ter)
|
rs1573888513
|
|
NM_000143.4(FH):c.185_188dup (p.Asn64fs)
|
rs1558402255
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)
|
rs1060500883
|
|
NM_000143.4(FH):c.221G>A (p.Arg74Lys)
|
rs200922399
|
|
NM_000143.4(FH):c.237dup (p.Lys80Ter)
|
rs1553341945
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.244_245dup (p.Gly83fs)
|
|
|
NM_000143.4(FH):c.267+1G>A
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.267+1G>T
|
rs878853691
|
|
NM_000143.4(FH):c.267+1_267+10del
|
rs1060499629
|
|
NM_000143.4(FH):c.268-2A>G
|
rs1064793741
|
|
NM_000143.4(FH):c.288del (p.Phe96fs)
|
rs2147923081
|
|
NM_000143.4(FH):c.29_30del (p.Arg10fs)
|
rs2147927054
|
|
NM_000143.4(FH):c.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)
|
rs876658569
|
|
NM_000143.4(FH):c.317_318dup (p.Asn107Ter)
|
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.321C>G (p.Asn107Lys)
|
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000143.4(FH):c.32_69del (p.Ser11fs)
|
rs2147926966
|
|
NM_000143.4(FH):c.344del (p.Lys115fs)
|
rs1573886415
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
NM_000143.4(FH):c.353del (p.Asn118fs)
|
rs1558401064
|
|
NM_000143.4(FH):c.376G>T (p.Glu126Ter)
|
rs1660143834
|
|
NM_000143.4(FH):c.379-1G>A
|
rs1553341623
|
|
NM_000143.4(FH):c.379-1G>C
|
rs1553341623
|
|
NM_000143.4(FH):c.37_92del (p.Pro13fs)
|
rs2147926916
|
|
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)
|
rs863223995
|
|
NM_000143.4(FH):c.404A>G (p.His135Arg)
|
rs786202833
|
|
NM_000143.4(FH):c.40del (p.Leu14fs)
|
|
|
NM_000143.4(FH):c.40dup (p.Leu14fs)
|
rs1060500900
|
|
NM_000143.4(FH):c.418del (p.Val140fs)
|
rs1573885519
|
|
NM_000143.4(FH):c.421del (p.Trp141fs)
|
|
|
NM_000143.4(FH):c.424C>T (p.Gln142Ter)
|
rs1355199594
|
|
NM_000143.4(FH):c.431G>T (p.Gly144Val)
|
rs1057521425
|
|
NM_000143.4(FH):c.431del (p.Gly144fs)
|
rs1660100641
|
|
NM_000143.4(FH):c.434C>G (p.Ser145Ter)
|
rs1573885482
|
|
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.442C>T (p.Gln148Ter)
|
rs1558400571
|
|
NM_000143.4(FH):c.473G>T (p.Ser158Ile)
|
rs1060500902
|
|
NM_000143.4(FH):c.478A>G (p.Arg160Gly)
|
rs878853694
|
|
NM_000143.4(FH):c.484del (p.Ile162fs)
|
rs1660098180
|
|
NM_000143.4(FH):c.490del (p.Met164fs)
|
|
|
NM_000143.4(FH):c.494T>G (p.Leu165Ter)
|
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.532_555+7del
|
rs2147921728
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.556-3_562del
|
rs1659999374
|
|
NM_000143.4(FH):c.557G>A (p.Ser186Asn)
|
rs587782618
|
|
NM_000143.4(FH):c.557del (p.Ser186fs)
|
rs1659999781
|
|
NM_000143.4(FH):c.560C>A (p.Ser187Ter)
|
rs398123166
|
|
NM_000143.4(FH):c.560C>T (p.Ser187Leu)
|
rs398123166
|
|
NM_000143.4(FH):c.564_587delinsG (p.Asn188fs)
|
rs1573883310
|
|
NM_000143.4(FH):c.568_569del (p.Thr190fs)
|
rs1553341367
|
|
NM_000143.4(FH):c.575C>T (p.Pro192Leu)
|
rs1573883342
|
|
NM_000143.4(FH):c.578C>T (p.Thr193Ile)
|
rs1573883332
|
|
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.597del (p.Ala200fs)
|
|
|
NM_000143.4(FH):c.5dup (p.Tyr2Ter)
|
rs1573890070
|
|
NM_000143.4(FH):c.634C>T (p.Gln212Ter)
|
rs1553341353
|
|
NM_000143.4(FH):c.640_641insACAGAAG (p.Leu214fs)
|
|
|
NM_000143.4(FH):c.653T>C (p.Leu218Pro)
|
rs1553341345
|
|
NM_000143.4(FH):c.65T>A (p.Leu22Ter)
|
rs1031919395
|
|
NM_000143.4(FH):c.667A>T (p.Lys223Ter)
|
rs2147919525
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.671_672del (p.Glu224fs)
|
rs780001199
|
|
NM_000143.4(FH):c.674_675del (p.Phe225fs)
|
rs1553341337
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NM_000143.4(FH):c.679C>T (p.Gln227Ter)
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rs11545658
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NM_000143.4(FH):c.688A>C (p.Lys230Gln)
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rs863223967
|
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NM_000143.4(FH):c.688A>G (p.Lys230Glu)
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rs863223967
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NM_000143.4(FH):c.689A>G (p.Lys230Arg)
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rs752232718
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NM_000143.4(FH):c.698G>T (p.Arg233Leu)
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rs121913123
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|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
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rs199971078
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NM_000143.4(FH):c.701C>T (p.Thr234Ile)
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rs878853695
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NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.704A>G (p.His235Arg)
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rs1659990191
|
|
NM_000143.4(FH):c.712G>A (p.Asp238Asn)
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rs1659989676
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|
NM_000143.4(FH):c.722_738+3del
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rs1064792900
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|
NM_000143.4(FH):c.723_724del (p.Leu242fs)
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rs2147919403
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|
NM_000143.4(FH):c.727dup (p.Thr243fs)
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|
|
NM_000143.4(FH):c.734_735del (p.Gly245fs)
|
rs2147919385
|
|
NM_000143.4(FH):c.735_736delinsTT (p.Gln246Ter)
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rs2147919380
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|
NM_000143.4(FH):c.737del (p.Gln246fs)
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rs727503928
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.738+1G>C
|
|
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NM_000143.4(FH):c.738+1G>T
|
|
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NM_000143.4(FH):c.738+2T>C
|
rs1060500901
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|
NM_000143.4(FH):c.738+3A>G
|
rs1659988181
|
|
NM_000143.4(FH):c.739-1G>A
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|
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NM_000143.4(FH):c.739-2A>C
|
rs1553341174
|
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NM_000143.4(FH):c.739-2A>G
|
rs1553341174
|
|
NM_000143.4(FH):c.739G>T (p.Glu247Ter)
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rs1131691243
|
|
NM_000143.4(FH):c.760C>T (p.Gln254Ter)
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rs398123167
|
|
NM_000143.4(FH):c.771T>G (p.Tyr257Ter)
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|
|
NM_000143.4(FH):c.780_781del (p.Arg261fs)
|
rs1659924638
|
|
NM_000143.4(FH):c.782G>T (p.Arg261Ile)
|
rs61736558
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.797dup (p.Met266fs)
|
rs863223981
|
|
NM_000143.4(FH):c.7C>T (p.Arg3Ter)
|
rs202166344
|
|
NM_000143.4(FH):c.805del (p.Ile269fs)
|
rs1131691234
|
|
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.822dup (p.Gly275fs)
|
rs2147917619
|
|
NM_000143.4(FH):c.823G>A (p.Gly275Arg)
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rs1060499639
|
|
NM_000143.4(FH):c.823G>C (p.Gly275Arg)
|
rs1060499639
|
|
NM_000143.4(FH):c.823G>T (p.Gly275Ter)
|
rs1060499639
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.827G>A (p.Gly276Asp)
|
rs2147917609
|
|
NM_000143.4(FH):c.879del (p.Ala294fs)
|
rs1131691622
|
|
NM_000143.4(FH):c.887_888del (p.Lys296fs)
|
rs2147917520
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.905-2A>C
|
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.909_910del (p.Leu303fs)
|
rs2147916393
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.919del (p.Thr307fs)
|
rs1553341049
|
|
NM_000143.4(FH):c.922G>A (p.Ala308Thr)
|
rs121913118
|
|
NM_000143.4(FH):c.933del (p.Lys311fs)
|
rs2147916327
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.936T>G (p.Phe312Leu)
|
rs2147916319
|
|
NM_000143.4(FH):c.936del (p.Phe312fs)
|
rs2147916324
|
|
NM_000143.4(FH):c.937G>T (p.Glu313Ter)
|
rs863224001
|
|
NM_000143.4(FH):c.939del (p.Ala314fs)
|
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000143.4(FH):c.950C>T (p.Ala317Val)
|
rs2147916281
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000143.4(FH):c.953A>T (p.His318Leu)
|
rs755449276
|
|
NM_000143.4(FH):c.991dup (p.Thr331fs)
|
rs1553341034
|
|
NM_000143.4(FH):c.999C>A (p.Cys333Ter)
|
rs1553341031
|
|