NM_000132.4(F8):c.5998+91T>A
|
rs4898352
|
0.43854
|
NM_000132.4(F8):c.6115+103T>C
|
rs4074307
|
0.43589
|
NM_000132.4(F8):c.788-343C>G
|
rs1936645
|
0.41321
|
NM_000132.4(F8):c.601+1893T>C
|
rs5945269
|
0.18744
|
NM_000132.4(F8):c.1010-27G>A
|
rs7058826
|
0.13707
|
NM_000132.4(F8):c.3864A>C (p.Ser1288=)
|
rs1800292
|
0.09246
|
NM_000132.4(F8):c.6769A>G (p.Met2257Val)
|
rs1800297
|
0.07378
|
NM_000132.4(F8):c.4500G>A (p.Pro1500=)
|
rs33921347
|
0.01389
|
NM_000132.4(F8):c.1086G>A (p.Ala362=)
|
rs1800289
|
0.01123
|
NM_000132.4(F8):c.266-19G>A
|
rs28370201
|
0.00623
|
NM_000132.4(F8):c.1508G>A (p.Arg503His)
|
rs35383156
|
0.00563
|
NM_000132.4(F8):c.2994T>G (p.His998Gln)
|
rs149853218
|
0.00419
|
NM_000132.4(F8):c.3621C>T (p.His1207=)
|
rs28370212
|
0.00371
|
NM_000132.4(F8):c.389-9C>T
|
rs35621875
|
0.00356
|
NM_000132.4(F8):c.2947G>A (p.Val983Ile)
|
rs35295375
|
0.00205
|
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys)
|
rs143174629
|
0.00136
|
NM_000132.4(F8):c.2453C>T (p.Thr818Ile)
|
rs142274278
|
0.00080
|
NM_000132.4(F8):c.102C>T (p.Asp34=)
|
rs1800283
|
0.00070
|
NM_000132.4(F8):c.5430T>G (p.Ser1810=)
|
rs142177821
|
0.00050
|
NM_000132.4(F8):c.4759G>A (p.Asp1587Asn)
|
rs142347597
|
0.00029
|
NM_000132.4(F8):c.1866T>C (p.Leu622=)
|
rs1800290
|
0.00021
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00019
|
NM_000132.4(F8):c.1064G>A (p.Arg355Gln)
|
rs146581224
|
0.00019
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
|
rs199660138
|
0.00017
|
NM_000132.4(F8):c.1272-5T>C
|
rs377416503
|
0.00016
|
NM_000132.4(F8):c.1501G>A (p.Asp501Asn)
|
rs147200025
|
0.00013
|
NM_000132.4(F8):c.222G>A (p.Thr74=)
|
rs1232517683
|
0.00012
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000132.4(F8):c.1387C>T (p.His463Tyr)
|
rs193028861
|
0.00008
|
NM_000132.4(F8):c.2696G>A (p.Ser899Asn)
|
rs145089334
|
0.00008
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000132.4(F8):c.3996A>G (p.Arg1332=)
|
rs782379086
|
0.00007
|
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)
|
rs1800294
|
0.00007
|
NM_000132.4(F8):c.3701A>T (p.His1234Leu)
|
rs145507297
|
0.00006
|
NM_000132.4(F8):c.5200C>T (p.Pro1734Ser)
|
rs782324012
|
0.00006
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000132.4(F8):c.4182G>A (p.Thr1394=)
|
rs782797370
|
0.00005
|
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)
|
rs782363141
|
0.00005
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000132.4(F8):c.1030A>C (p.Lys344Gln)
|
rs782395704
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.2550G>T (p.Leu850=)
|
rs782777398
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000132.4(F8):c.5999-11G>A
|
rs782132907
|
0.00002
|
NM_000132.4(F8):c.1316G>T (p.Gly439Val)
|
rs1362305882
|
0.00001
|
NM_000132.4(F8):c.1569G>T (p.Leu523=)
|
rs782733685
|
0.00001
|
NM_000132.4(F8):c.1649G>A (p.Arg550His)
|
rs137852418
|
0.00001
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000132.4(F8):c.1835G>A (p.Arg612His)
|
rs782473762
|
0.00001
|
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
NM_000132.4(F8):c.2732A>G (p.Asp911Gly)
|
rs782671808
|
0.00001
|
NM_000132.4(F8):c.3163G>A (p.Asp1055Asn)
|
rs140027831
|
0.00001
|
NM_000132.4(F8):c.3603A>T (p.Leu1201Phe)
|
rs782048928
|
0.00001
|
NM_000132.4(F8):c.456C>G (p.Ser152Arg)
|
rs781912033
|
0.00001
|
NM_000132.4(F8):c.493C>T (p.Pro165Ser)
|
rs137852393
|
0.00001
|
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)
|
rs782235155
|
0.00001
|
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)
|
rs28935203
|
0.00001
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000132.4(F8):c.599A>G (p.Glu200Gly)
|
rs782158761
|
0.00001
|
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)
|
rs137852459
|
0.00001
|
NM_000132.4(F8):c.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)
|
rs1472169963
|
0.00001
|
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)
|
rs782548763
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000132.4(F8):c.6991A>T (p.Ser2331Cys)
|
rs1557271047
|
0.00001
|
NC_000023.11:g.154901441CT[1]
|
|
|
NM_000132.4(F8):c.*56G>T
|
rs2072483147
|
|
NM_000132.4(F8):c.101A>T (p.Asp34Val)
|
|
|
NM_000132.4(F8):c.1175C>T (p.Ser392Leu)
|
rs28933668
|
|
NM_000132.4(F8):c.1181C>A (p.Ala394Asp)
|
|
|
NM_000132.4(F8):c.1247C>T (p.Pro416Leu)
|
|
|
NM_000132.4(F8):c.1264G>C (p.Asp422His)
|
rs370737113
|
|
NM_000132.4(F8):c.1284_1285delinsGT (p.Ser428_Gln429delinsArgTer)
|
rs2124105418
|
|
NM_000132.4(F8):c.1301G>T (p.Gly434Val)
|
rs1569559866
|
|
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
|
|
|
NM_000132.4(F8):c.1316G>A (p.Gly439Asp)
|
|
|
NM_000132.4(F8):c.1327_1339del (p.Lys443fs)
|
|
|
NM_000132.4(F8):c.1331A>C (p.Lys444Thr)
|
|
|
NM_000132.4(F8):c.1352_1353del (p.Thr451fs)
|
rs1603435220
|
|
NM_000132.4(F8):c.1373G>A (p.Arg458His)
|
|
|
NM_000132.4(F8):c.1457A>T (p.Asn486Ile)
|
|
|
NM_000132.4(F8):c.1462G>C (p.Ala488Pro)
|
|
|
NM_000132.4(F8):c.1475A>G (p.Tyr492Cys)
|
|
|
NM_000132.4(F8):c.1520C>G (p.Ser507Ter)
|
|
|
NM_000132.4(F8):c.1551G>A (p.Leu517=)
|
rs2073369309
|
|
NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)
|
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000132.4(F8):c.1639T>C (p.Cys547Arg)
|
|
|
NM_000132.4(F8):c.1648C>G (p.Arg550Gly)
|
rs137852417
|
|
NM_000132.4(F8):c.1781T>C (p.Leu594Pro)
|
|
|
NM_000132.4(F8):c.1808G>A (p.Ser603Asn)
|
|
|
NM_000132.4(F8):c.1835G>T (p.Arg612Leu)
|
rs782473762
|
|
NM_000132.4(F8):c.1848T>C (p.Asn616=)
|
rs1603434700
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.1952A>C (p.His651Pro)
|
rs1569559758
|
|
NM_000132.4(F8):c.2006C>T (p.Ser669Phe)
|
|
|
NM_000132.4(F8):c.2092T>G (p.Phe698Val)
|
|
|
NM_000132.4(F8):c.2098T>C (p.Ser700Pro)
|
|
|
NM_000132.4(F8):c.2113+471_2113+473dup
|
|
|
NM_000132.4(F8):c.2138A>T (p.Asn713Ile)
|
|
|
NM_000132.4(F8):c.2161A>C (p.Met721Leu)
|
rs1305924233
|
|
NM_000132.4(F8):c.219C>G (p.Phe73Leu)
|
rs1603436770
|
|
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)
|
rs137852437
|
|
NM_000132.4(F8):c.244A>G (p.Lys82Glu)
|
rs1283070296
|
|
NM_000132.4(F8):c.262A>G (p.Met88Val)
|
rs782731044
|
|
NM_000132.4(F8):c.2727A>G (p.Pro909=)
|
|
|
NM_000132.4(F8):c.274G>A (p.Gly92Ser)
|
|
|
NM_000132.4(F8):c.2803C>T (p.Gln935Ter)
|
rs372337556
|
|
NM_000132.4(F8):c.2945del (p.Asn982fs)
|
rs387906447
|
|
NM_000132.4(F8):c.2954C>T (p.Ser985Leu)
|
|
|
NM_000132.4(F8):c.2961G>C (p.Glu987Asp)
|
|
|
NM_000132.4(F8):c.3106G>C (p.Gly1036Arg)
|
|
|
NM_000132.4(F8):c.312C>A (p.Val104=)
|
|
|
NM_000132.4(F8):c.3263C>T (p.Thr1088Ile)
|
|
|
NM_000132.4(F8):c.3280G>A (p.Glu1094Lys)
|
rs377119670
|
|
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
|
|
|
NM_000132.4(F8):c.3361T>G (p.Leu1121Val)
|
|
|
NM_000132.4(F8):c.3409C>A (p.Leu1137Met)
|
|
|
NM_000132.4(F8):c.359T>C (p.Val120Ala)
|
rs1569560006
|
|
NM_000132.4(F8):c.3637dup (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu)
|
rs1800291
|
|
NM_000132.4(F8):c.379del (p.Ala127fs)
|
rs1454692506
|
|
NM_000132.4(F8):c.37C>T (p.Leu13Phe)
|
|
|
NM_000132.4(F8):c.3870dup (p.Gly1291fs)
|
|
|
NM_000132.4(F8):c.4042A>T (p.Lys1348Ter)
|
rs1297584118
|
|
NM_000132.4(F8):c.4163C>T (p.Pro1388Leu)
|
|
|
NM_000132.4(F8):c.4254T>A (p.Ile1418=)
|
|
|
NM_000132.4(F8):c.4367G>A (p.Gly1456Glu)
|
|
|
NM_000132.4(F8):c.4379dup (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.43C>T (p.Arg15Ter)
|
rs387906432
|
|
NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter)
|
rs1557278411
|
|
NM_000132.4(F8):c.4473C>G (p.Tyr1491Ter)
|
|
|
NM_000132.4(F8):c.4757G>A (p.Trp1586Ter)
|
|
|
NM_000132.4(F8):c.476T>C (p.Val159Ala)
|
rs2124141036
|
|
NM_000132.4(F8):c.4825dup (p.Thr1609fs)
|
rs397514036
|
|
NM_000132.4(F8):c.4841del (p.Lys1614fs)
|
|
|
NM_000132.4(F8):c.5042T>C (p.Ile1681Thr)
|
|
|
NM_000132.4(F8):c.508C>T (p.Pro170Ser)
|
|
|
NM_000132.4(F8):c.5096A>C (p.Tyr1699Ser)
|
|
|
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_000132.4(F8):c.5120C>T (p.Pro1707Leu)
|
|
|
NM_000132.4(F8):c.5143C>A (p.Arg1715=)
|
rs137852439
|
|
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)
|
rs137852439
|
|
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu)
|
rs1557278259
|
|
NM_000132.4(F8):c.521C>T (p.Thr174Ile)
|
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys)
|
|
|
NM_000132.4(F8):c.5417C>T (p.Ser1806Phe)
|
rs1569559523
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.5562G>T (p.Trp1854Cys)
|
|
|
NM_000132.4(F8):c.5579T>C (p.Val1860Ala)
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.5600A>G (p.His1867Arg)
|
rs28933679
|
|
NM_000132.4(F8):c.5605G>A (p.Gly1869Ser)
|
rs1417520379
|
|
NM_000132.4(F8):c.566C>T (p.Ser189Leu)
|
rs137852367
|
|
NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)
|
|
|
NM_000132.4(F8):c.5696T>C (p.Phe1899Ser)
|
rs1486435006
|
|
NM_000132.4(F8):c.5703C>A (p.Ile1901=)
|
rs782721473
|
|
NM_000132.4(F8):c.575T>C (p.Ile192Thr)
|
rs1448187077
|
|
NM_000132.4(F8):c.580G>C (p.Ala194Pro)
|
|
|
NM_000132.4(F8):c.5813A>G (p.His1938Arg)
|
rs1603432981
|
|
NM_000132.4(F8):c.5816C>A (p.Ala1939Glu)
|
|
|
NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)
|
|
|
NM_000132.4(F8):c.5851T>C (p.Leu1951=)
|
|
|
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)
|
rs28937294
|
|
NM_000132.4(F8):c.5939A>G (p.His1980Arg)
|
rs1569559516
|
|
NM_000132.4(F8):c.5941G>A (p.Val1981Met)
|
|
|
NM_000132.4(F8):c.5954del (p.Arg1985fs)
|
rs1215569190
|
|
NM_000132.4(F8):c.5960_5964del (p.Lys1987fs)
|
rs1569559514
|
|
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
|
|
|
NM_000132.4(F8):c.5999-270C>G
|
|
|
NM_000132.4(F8):c.602-11T>C
|
|
|
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln)
|
rs1444225681
|
|
NM_000132.4(F8):c.6066C>T (p.Gly2022=)
|
|
|
NM_000132.4(F8):c.6103G>A (p.Val2035Met)
|
rs1057521074
|
|
NM_000132.4(F8):c.6164A>C (p.Gln2055Pro)
|
|
|
NM_000132.4(F8):c.6245G>A (p.Ser2082Asn)
|
rs1569559494
|
|
NM_000132.4(F8):c.6274-304GT[13]
|
rs57253105
|
|
NM_000132.4(F8):c.6274-304GT[14]
|
rs57253105
|
|
NM_000132.4(F8):c.6278A>T (p.Asp2093Val)
|
rs137852457
|
|
NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)
|
|
|
NM_000132.4(F8):c.6305G>A (p.Gly2102Asp)
|
rs2148583736
|
|
NM_000132.4(F8):c.6320G>A (p.Gly2107Asp)
|
rs1190705187
|
|
NM_000132.4(F8):c.6326G>C (p.Arg2109Pro)
|
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)
|
rs137852356
|
|
NM_000132.4(F8):c.641T>A (p.Phe214Tyr)
|
rs2073563946
|
|
NM_000132.4(F8):c.6429+5G>A
|
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
NM_000132.4(F8):c.6483T>A (p.Pro2161=)
|
|
|
NM_000132.4(F8):c.6485C>T (p.Pro2162Leu)
|
|
|
NM_000132.4(F8):c.6506G>A (p.Arg2169His)
|
rs137852461
|
|
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)
|
rs137852464
|
|
NM_000132.4(F8):c.6547A>G (p.Met2183Val)
|
rs781797728
|
|
NM_000132.4(F8):c.6653T>A (p.Met2218Lys)
|
|
|
NM_000132.4(F8):c.6663C>A (p.Thr2221=)
|
|
|
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)
|
rs1342196860
|
|
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)
|
rs137852355
|
|
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)
|
rs1603431508
|
|
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)
|
rs1603431506
|
|
NM_000132.4(F8):c.6720T>G (p.Pro2240=)
|
|
|
NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)
|
|
|
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)
|
rs137852469
|
|
NM_000132.4(F8):c.6754G>C (p.Asp2252His)
|
rs2072683196
|
|
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)
|
rs137852470
|
|
NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)
|
|
|
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)
|
rs137852472
|
|
NM_000132.4(F8):c.6967C>G (p.Arg2323Gly)
|
rs137852473
|
|
NM_000132.4(F8):c.728C>G (p.Ser243Cys)
|
|
|
NM_000132.4(F8):c.766T>A (p.Tyr256Asn)
|
rs1569559955
|
|
NM_000132.4(F8):c.842C>T (p.Thr281Ile)
|
|
|
NM_000132.4(F8):c.871G>A (p.Glu291Lys)
|
|
|
NM_000132.4(F8):c.877C>G (p.His293Asp)
|
rs1569559881
|
|
NM_000132.4(F8):c.881C>G (p.Thr294Arg)
|
|
|
NM_000132.4(F8):c.902G>A (p.Arg301His)
|
rs137852403
|
|
NM_000132.4(F8):c.926C>T (p.Pro309Leu)
|
rs1603435401
|
|
NM_000132.4(F8):c.935T>C (p.Phe312Ser)
|
rs137852405
|
|