NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)
|
rs61750595
|
0.00006
|
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter)
|
rs62643640
|
0.00006
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
NM_000552.5(VWF):c.3379+1G>A
|
rs2363337
|
0.00002
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
NM_000552.5(VWF):c.1239dup (p.Leu414fs)
|
rs770203987
|
0.00001
|
NM_000552.5(VWF):c.311_312del (p.Gln104fs)
|
rs1481396407
|
0.00001
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln)
|
rs61749385
|
0.00001
|
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
|
rs61750074
|
0.00001
|
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)
|
rs61750606
|
0.00001
|
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)
|
rs61750612
|
0.00001
|
NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter)
|
rs1359172781
|
0.00001
|
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)
|
rs61751296
|
0.00001
|
NM_000552.5(VWF):c.970C>T (p.Arg324Ter)
|
rs61754000
|
0.00001
|
GRCh37/hg19 12p13.31(chr12:6127530-6233842)
|
|
|
NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del
|
|
|
NC_000012.11:g.(6153618_6155888)_(6155984_6161708)del
|
|
|
NC_000012.11:g.(6161950_6166021)_(6167211_6172119)del
|
|
|
NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del
|
|
|
NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del
|
|
|
NC_000012.11:g.(6204751_6219539)_(6233842_?)del
|
|
|
NC_000012.11:g.(6220135_6230339)_(6233842_?)del
|
|
|
NC_000012.11:g.(?_6058180)_(6105389_6120781)del
|
|
|
NC_000012.11:g.(?_6058180)_(6233842_?)del
|
|
|
NC_000012.11:g.6128479_6128749delins[NC_000022.10:g.17178616_17178886]
|
|
|
NC_000012.11:g.6128633_6128795delins[NC_000022.10:g.17178770_17178932]
|
|
|
NG_011403.1:g.2114_5221del
|
|
|
NM_000132.4(F8):c.143+1116_143+1742del
|
rs2073755958
|
|
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup)
|
rs2073393487
|
|
NM_000132.4(F8):c.1784T>C (p.Phe595Ser)
|
rs2073351165
|
|
NM_000132.4(F8):c.1812G>A (p.Trp604Ter)
|
rs137852426
|
|
NM_000132.4(F8):c.205_206del (p.Leu69fs)
|
rs1317834655
|
|
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs)
|
rs1375894900
|
|
NM_000132.4(F8):c.3637del (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)
|
rs387906452
|
|
NM_000132.4(F8):c.5587-2A>G
|
rs2073027912
|
|
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)
|
rs137852363
|
|
NM_000132.4(F8):c.5961del (p.Glu1988fs)
|
rs387906460
|
|
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)
|
rs137852453
|
|
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser)
|
rs1267586059
|
|
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter)
|
rs2072977865
|
|
NM_000132.4(F8):c.6429+16424_6430-16424inv
|
|
|
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.6545G>A (p.Arg2182His)
|
rs137852466
|
|
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)
|
rs1342196860
|
|
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter)
|
rs1377166595
|
|
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)
|
rs2072681848
|
|
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs)
|
rs1356674990
|
|
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu)
|
rs137852360
|
|
NM_000132.4(F8):c.788-1G>C
|
rs2073445259
|
|
NM_000133.4(F9):c.1135C>T (p.Arg379Ter)
|
rs137852258
|
|
NM_000133.4(F9):c.142A>T (p.Asn48Tyr)
|
rs1927493197
|
|
NM_000133.4(F9):c.214G>T (p.Glu72Ter)
|
rs1927498635
|
|
NM_000133.4(F9):c.252+5G>A
|
rs1266788575
|
|
NM_000133.4(F9):c.277+1G>A
|
rs1224128266
|
|
NM_000133.4(F9):c.401G>C (p.Cys134Ser)
|
rs1927764839
|
|
NM_000133.4(F9):c.484C>T (p.Arg162Ter)
|
rs137852272
|
|
NM_000133.4(F9):c.88+5_88+8del
|
rs1603263399
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
NM_000133.4(F9):c.887T>A (p.Val296Glu)
|
rs1371397743
|
|
NM_000552.5(VWF):c.1092_1093del (p.Asp366fs)
|
rs2136470486
|
|
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter)
|
rs61754003
|
|
NM_000552.5(VWF):c.1116C>A (p.Cys372Ter)
|
rs1250492485
|
|
NM_000552.5(VWF):c.1130G>A (p.Trp377Ter)
|
rs1321160729
|
|
NM_000552.5(VWF):c.1320C>A (p.Cys440Ter)
|
rs1381910966
|
|
NM_000552.5(VWF):c.1581del (p.Asn526_Tyr527insTer)
|
rs2136455960
|
|
NM_000552.5(VWF):c.1659G>A (p.Trp553Ter)
|
rs2136455808
|
|
NM_000552.5(VWF):c.1693C>T (p.Gln565Ter)
|
rs750364485
|
|
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter)
|
rs61748460
|
|
NM_000552.5(VWF):c.2018_2019del (p.Ser673fs)
|
rs61748462
|
|
NM_000552.5(VWF):c.2071_2072delinsG (p.Pro691fs)
|
rs2136449605
|
|
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter)
|
rs61748463
|
|
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs)
|
rs61748464
|
|
NM_000552.5(VWF):c.229C>T (p.Gln77Ter)
|
rs2136522827
|
|
NM_000552.5(VWF):c.2310del (p.Met771fs)
|
rs776747320
|
|
NM_000552.5(VWF):c.2310dup (p.Met771fs)
|
rs776747320
|
|
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter)
|
rs2136440316
|
|
NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter)
|
rs2136440291
|
|
NM_000552.5(VWF):c.2397_2400dup (p.Ser801fs)
|
rs2136440279
|
|
NM_000552.5(VWF):c.2430C>A (p.Cys810Ter)
|
rs746648486
|
|
NM_000552.5(VWF):c.2430_2431delinsA (p.Cys810_Pro811delinsTer)
|
rs2136440246
|
|
NM_000552.5(VWF):c.2435del (p.Pro812fs)
|
rs62643632
|
|
NM_000552.5(VWF):c.2516del (p.Gly839fs)
|
rs61748481
|
|
NM_000552.5(VWF):c.2753C>G (p.Ser918Ter)
|
rs2136426808
|
|
NM_000552.5(VWF):c.276del (p.Phe92fs)
|
rs61753988
|
|
NM_000552.5(VWF):c.2902A>T (p.Lys968Ter)
|
rs1944232310
|
|
NM_000552.5(VWF):c.2965dup (p.Gln989fs)
|
rs2136424529
|
|
NM_000552.5(VWF):c.310C>T (p.Gln104Ter)
|
rs2136522699
|
|
NM_000552.5(VWF):c.3285_3307delinsTCC (p.Asp1096fs)
|
rs2136418437
|
|
NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter)
|
rs2136418333
|
|
NM_000552.5(VWF):c.3380-2A>G
|
rs2136417619
|
|
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)
|
rs267607326
|
|
NM_000552.5(VWF):c.3771_3772del (p.Tyr1258fs)
|
rs2136413869
|
|
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)
|
rs61749372
|
|
NM_000552.5(VWF):c.3839_3849del (p.Phe1280fs)
|
rs2136413727
|
|
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)
|
rs61749384
|
|
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu)
|
rs61749385
|
|
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)
|
rs61749387
|
|
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)
|
rs267607337
|
|
NM_000552.5(VWF):c.3940del (p.Val1314fs)
|
rs2136413513
|
|
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)
|
rs61749395
|
|
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu)
|
rs61749396
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter)
|
rs61749405
|
|
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)
|
rs61750071
|
|
NM_000552.5(VWF):c.4121G>A (p.Arg1374His)
|
rs61750072
|
|
NM_000552.5(VWF):c.414_426del (p.Arg139fs)
|
rs1312486904
|
|
NM_000552.5(VWF):c.4309del (p.Ala1437fs)
|
rs2136412749
|
|
NM_000552.5(VWF):c.4570del (p.Glu1523_Val1524insTer)
|
rs61750103
|
|
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del)
|
rs2136412203
|
|
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter)
|
rs267607343
|
|
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn)
|
rs2136411988
|
|
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)
|
rs61750117
|
|
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln)
|
rs61750577
|
|
NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter)
|
rs753701755
|
|
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp)
|
rs61750579
|
|
NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn)
|
rs61750584
|
|
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)
|
rs61750584
|
|
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter)
|
rs2136411489
|
|
NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs)
|
rs2136387598
|
|
NM_000552.5(VWF):c.6182del (p.Phe2061fs)
|
rs61750614
|
|
NM_000552.5(VWF):c.6188del (p.Pro2063fs)
|
rs774210583
|
|
NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter)
|
rs2136385927
|
|
NM_000552.5(VWF):c.646G>T (p.Glu216Ter)
|
rs767837153
|
|
NM_000552.5(VWF):c.652C>T (p.Gln218Ter)
|
rs62643623
|
|
NM_000552.5(VWF):c.666G>A (p.Trp222Ter)
|
rs62643624
|
|
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe)
|
rs61750630
|
|
NM_000552.5(VWF):c.7130dup (p.His2378fs)
|
rs267607359
|
|
NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs)
|
rs1591838814
|
|
NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter)
|
rs2136358550
|
|
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs)
|
rs1591836930
|
|
NM_000552.5(VWF):c.7618del (p.Val2540fs)
|
rs2136356178
|
|
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter)
|
rs61751297
|
|
NM_000552.5(VWF):c.763_766del (p.Cys255fs)
|
rs2136474390
|
|
NM_000552.5(VWF):c.7674dup (p.Ser2559fs)
|
rs267607365
|
|
NM_000552.5(VWF):c.7729+7C>T
|
rs61751301
|
|
NM_023934.4(FUNDC2):c.-2_133+51del
|
rs2073793798
|
|