NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_019616.4(F7):c.-30A>C
|
rs539578931
|
0.00048
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000504.4(F10):c.1351A>C (p.Ile451Leu)
|
rs369872236
|
0.00011
|
NM_019616.4(F7):c.854G>A (p.Arg285His)
|
rs121964929
|
0.00009
|
NM_019616.4(F7):c.1085C>T (p.Thr362Met)
|
rs531225271
|
0.00008
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00006
|
NM_019616.4(F7):c.845C>T (p.Ala282Val)
|
rs121964931
|
0.00006
|
NM_000504.4(F10):c.1097G>A (p.Arg366His)
|
rs143715673
|
0.00005
|
NM_019616.4(F7):c.868G>A (p.Val290Met)
|
rs201991361
|
0.00005
|
NM_019616.4(F7):c.403G>A (p.Gly135Ser)
|
rs763458490
|
0.00004
|
NM_019616.4(F7):c.656C>A (p.Thr219Asn)
|
rs1160146175
|
0.00003
|
NM_019616.4(F7):c.961G>A (p.Gly321Ser)
|
rs1250853566
|
0.00003
|
NM_019616.4(F7):c.1158T>G (p.His386Gln)
|
rs121964936
|
0.00002
|
NM_019616.4(F7):c.400G>A (p.Gly134Ser)
|
rs563972504
|
0.00002
|
NM_000131.4(F7):c.-61T>G
|
rs1367115848
|
0.00001
|
NM_000504.4(F10):c.1073C>T (p.Thr358Met)
|
rs768222784
|
0.00001
|
NM_000504.4(F10):c.161A>G (p.Glu54Gly)
|
rs121964944
|
0.00001
|
NM_000504.4(F10):c.400G>A (p.Gly134Arg)
|
rs368225671
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_019616.4(F7):c.1105G>A (p.Gly369Ser)
|
rs190485816
|
0.00001
|
NM_019616.4(F7):c.1219G>A (p.Ala407Thr)
|
rs755377592
|
0.00001
|
NM_019616.4(F7):c.152T>A (p.Leu51Gln)
|
rs45572939
|
0.00001
|
NM_019616.4(F7):c.443G>A (p.Arg148His)
|
rs375134790
|
0.00001
|
NM_019616.4(F7):c.505+78G>A
|
rs764741909
|
0.00001
|
NM_019616.4(F7):c.615+1G>T
|
rs769452933
|
0.00001
|
NM_019616.4(F7):c.739+5G>A
|
rs746625213
|
0.00001
|
NM_000131.4(F7):c.-55C>T
|
rs1418012389
|
|
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
|
|
|
NM_000504.4(F10):c.1087G>A (p.Gly363Ser)
|
rs1595099527
|
|
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
|
|
|
NM_000504.4(F10):c.1210T>C (p.Cys404Arg)
|
rs1595099645
|
|
NM_000504.4(F10):c.1252G>C (p.Asp418His)
|
rs2138557799
|
|
NM_000504.4(F10):c.1348G>A (p.Gly450Arg)
|
rs1595099844
|
|
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
|
rs121964939
|
|
NM_000504.4(F10):c.167A>G (p.Glu56Gly)
|
|
|
NM_000504.4(F10):c.205G>A (p.Glu69Lys)
|
rs1325135019
|
|
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
|
|
|
NM_000504.4(F10):c.232-2563_503-451del
|
|
|
NM_000504.4(F10):c.248_251del (p.Lys83fs)
|
|
|
NM_000504.4(F10):c.256G>A (p.Asp86Asn)
|
|
|
NM_000504.4(F10):c.270T>A (p.Cys90Ter)
|
|
|
NM_000504.4(F10):c.299_300del (p.Lys100fs)
|
|
|
NM_000504.4(F10):c.305_306del (p.Lys102fs)
|
|
|
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)
|
rs2134533215
|
|
NM_000506.5(F2):c.1094T>A (p.Val365Glu)
|
rs747234596
|
|
NM_000506.5(F2):c.1270G>A (p.Val424Met)
|
rs1310397756
|
|
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)
|
rs2134537035
|
|
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
|
|
|
NM_000506.5(F2):c.422+1G>A
|
|
|
NM_000506.5(F2):c.995G>C (p.Gly332Ala)
|
rs2134532862
|
|
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter)
|
rs1691898752
|
|
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp)
|
rs1692107154
|
|
NM_000821.7(GGCX):c.973dup (p.Arg325fs)
|
rs768019203
|
|
NM_019616.4(F7):c.1048C>T (p.Gln350Ter)
|
rs1595080617
|
|
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
|
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019616.4(F7):c.145G>C (p.Gly49Arg)
|
rs376384665
|
|
NM_019616.4(F7):c.149C>G (p.Ser50Cys)
|
rs546856641
|
|
NM_019616.4(F7):c.154dup (p.Glu52fs)
|
|
|
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
|
|
|
NM_019616.4(F7):c.220A>G (p.Arg74Gly)
|
rs2142212748
|
|
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
|
|
|
NM_019616.4(F7):c.64+1005G>A
|
|
|
NM_019616.4(F7):c.649G>C (p.Gly217Arg)
|
rs2142229154
|
|
NM_019616.4(F7):c.737T>C (p.Leu246Pro)
|
rs2142229513
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
|
|
|
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)
|
rs757743255
|
|
NM_019616.4(F7):c.857T>C (p.Leu286Pro)
|
rs2142232799
|
|
NM_019616.4(F7):c.86C>A (p.Ala29Asp)
|
rs2036074360
|
|
NM_019616.4(F7):c.871del (p.Val291fs)
|
rs2142232898
|
|
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
|
|
|
Single allele
|
|
|