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.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.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
NC_000023.11:g.154901441CT[1]
|
|
|
NM_000132.4(F8):c.1284_1285delinsGT (p.Ser428_Gln429delinsArgTer)
|
rs2124105418
|
|
NM_000132.4(F8):c.1352_1353del (p.Thr451fs)
|
rs1603435220
|
|
NM_000132.4(F8):c.1520C>G (p.Ser507Ter)
|
|
|
NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)
|
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.2006C>T (p.Ser669Phe)
|
|
|
NM_000132.4(F8):c.2138A>T (p.Asn713Ile)
|
|
|
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)
|
rs137852437
|
|
NM_000132.4(F8):c.2803C>T (p.Gln935Ter)
|
rs372337556
|
|
NM_000132.4(F8):c.2945del (p.Asn982fs)
|
rs387906447
|
|
NM_000132.4(F8):c.3637dup (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.379del (p.Ala127fs)
|
rs1454692506
|
|
NM_000132.4(F8):c.3870dup (p.Gly1291fs)
|
|
|
NM_000132.4(F8):c.4042A>T (p.Lys1348Ter)
|
rs1297584118
|
|
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.4825dup (p.Thr1609fs)
|
rs397514036
|
|
NM_000132.4(F8):c.4841del (p.Lys1614fs)
|
|
|
NM_000132.4(F8):c.508C>T (p.Pro170Ser)
|
|
|
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu)
|
rs1557278259
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
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.5879G>A (p.Arg1960Gln)
|
rs28937294
|
|
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.6103G>A (p.Val2035Met)
|
rs1057521074
|
|
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.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.6679G>A (p.Ala2227Thr)
|
rs1342196860
|
|
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)
|
rs137852355
|
|
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.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.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
|
|