NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00019
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)
|
rs137852467
|
0.00002
|
NM_000132.4(F8):c.1063C>T (p.Arg355Ter)
|
rs137852368
|
0.00001
|
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.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
NM_000132.4(F8):c.493C>T (p.Pro165Ser)
|
rs137852393
|
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.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.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NC_000023.11:g.154901441CT[1]
|
|
|
NM_000132.4(F8):c.1171C>T (p.Arg391Cys)
|
rs137852364
|
|
NM_000132.4(F8):c.1172G>A (p.Arg391His)
|
rs28935499
|
|
NM_000132.4(F8):c.1202G>A (p.Trp401Ter)
|
rs2073424782
|
|
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs)
|
rs2124105898
|
|
NM_000132.4(F8):c.1271+1G>A
|
rs1603435260
|
|
NM_000132.4(F8):c.1332del (p.Val445fs)
|
rs1375296497
|
|
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter)
|
rs1557281954
|
|
NM_000132.4(F8):c.1352_1353del (p.Thr451fs)
|
rs1603435220
|
|
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter)
|
rs2124099224
|
|
NM_000132.4(F8):c.1492G>A (p.Gly498Arg)
|
rs137852414
|
|
NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)
|
|
|
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys)
|
rs1557281265
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000132.4(F8):c.1696C>T (p.Leu566Phe)
|
rs2124094420
|
|
NM_000132.4(F8):c.1804C>T (p.Arg602Ter)
|
rs137852424
|
|
NM_000132.4(F8):c.1941_1944del (p.Leu650fs)
|
rs2124082382
|
|
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys)
|
rs1384374956
|
|
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)
|
rs387906434
|
|
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs)
|
rs2124054281
|
|
NM_000132.4(F8):c.2162T>C (p.Met721Thr)
|
rs1314906579
|
|
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)
|
rs137852437
|
|
NM_000132.4(F8):c.2506dup (p.Ser836fs)
|
rs2124053251
|
|
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer)
|
rs1557285171
|
|
NM_000132.4(F8):c.286C>T (p.Gln96Ter)
|
rs2124146053
|
|
NM_000132.4(F8):c.2902G>T (p.Glu968Ter)
|
rs782176982
|
|
NM_000132.4(F8):c.2945del (p.Asn982fs)
|
rs387906447
|
|
NM_000132.4(F8):c.2945dup (p.Asn982fs)
|
rs387906447
|
|
NM_000132.4(F8):c.296T>C (p.Val99Ala)
|
rs137852382
|
|
NM_000132.4(F8):c.302A>G (p.Asp101Gly)
|
rs1312347909
|
|
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs)
|
rs1375894900
|
|
NM_000132.4(F8):c.323A>C (p.Lys108Thr)
|
rs137852384
|
|
NM_000132.4(F8):c.3637del (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.3637dup (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.3746del (p.Leu1249fs)
|
rs2124050272
|
|
NM_000132.4(F8):c.379del (p.Ala127fs)
|
rs1454692506
|
|
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs)
|
rs1603433779
|
|
NM_000132.4(F8):c.388+1G>A
|
rs1377354928
|
|
NM_000132.4(F8):c.3964del (p.Gln1322fs)
|
rs2073183197
|
|
NM_000132.4(F8):c.4042A>T (p.Lys1348Ter)
|
rs1297584118
|
|
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs)
|
rs387906454
|
|
NM_000132.4(F8):c.4379del (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.4379dup (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.437_438del (p.Lys146fs)
|
rs2124141140
|
|
NM_000132.4(F8):c.43C>T (p.Arg15Ter)
|
rs387906432
|
|
NM_000132.4(F8):c.4473C>G (p.Tyr1491Ter)
|
|
|
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter)
|
rs2073177296
|
|
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)
|
rs2124048012
|
|
NM_000132.4(F8):c.4825dup (p.Thr1609fs)
|
rs397514036
|
|
NM_000132.4(F8):c.4841del (p.Lys1614fs)
|
|
|
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter)
|
rs1603433733
|
|
NM_000132.4(F8):c.4936del (p.Ala1646fs)
|
rs1603433729
|
|
NM_000132.4(F8):c.508C>T (p.Pro170Ser)
|
|
|
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)
|
rs137852439
|
|
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu)
|
rs1557278259
|
|
NM_000132.4(F8):c.5219+1G>A
|
rs1280131174
|
|
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter)
|
rs782763245
|
|
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg)
|
rs1168919288
|
|
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs)
|
rs1342455699
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)
|
rs2123997982
|
|
NM_000132.4(F8):c.5483del (p.Pro1828fs)
|
rs2073030045
|
|
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter)
|
rs2123997870
|
|
NM_000132.4(F8):c.5605G>A (p.Gly1869Ser)
|
rs1417520379
|
|
NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)
|
|
|
NM_000132.4(F8):c.575T>C (p.Ile192Thr)
|
rs1448187077
|
|
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)
|
rs28933682
|
|
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)
|
rs28937294
|
|
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs)
|
rs1216878586
|
|
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)
|
rs137852452
|
|
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.5999-2A>C
|
rs2123994187
|
|
NM_000132.4(F8):c.5999G>T (p.Gly2000Val)
|
rs1603432913
|
|
NM_000132.4(F8):c.6020del (p.Met2007fs)
|
rs2123994155
|
|
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)
|
rs137852453
|
|
NM_000132.4(F8):c.6104T>C (p.Val2035Ala)
|
rs1603432906
|
|
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)
|
rs137852356
|
|
NM_000132.4(F8):c.6429+5G>A
|
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)
|
rs137852357
|
|
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.6547A>G (p.Met2183Val)
|
rs781797728
|
|
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe)
|
rs1603431511
|
|
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.6683G>A (p.Arg2228Gln)
|
rs137852358
|
|
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)
|
rs1603431506
|
|
NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)
|
|
|
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)
|
rs137852469
|
|
NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)
|
|
|
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)
|
rs137852472
|
|
NM_000132.4(F8):c.6956dup (p.Leu2320fs)
|
rs1475873048
|
|
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)
|
rs137852354
|
|
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter)
|
rs2072484506
|
|
NM_000132.4(F8):c.760A>G (p.Asn254Asp)
|
rs2124131338
|
|
NM_000132.4(F8):c.766T>A (p.Tyr256Asn)
|
rs1569559955
|
|
NM_000132.4(F8):c.871G>A (p.Glu291Lys)
|
|
|
NM_000132.4(F8):c.902G>A (p.Arg301His)
|
rs137852403
|
|
NM_000132.4(F8):c.935T>C (p.Phe312Ser)
|
rs137852405
|
|