NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
NM_054012.4(ASS1):c.19G>A (p.Val7Met)
|
rs149938546
|
0.00009
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)
|
rs559043503
|
0.00008
|
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)
|
rs753078725
|
0.00008
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)
|
rs555388438
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)
|
rs771640767
|
0.00005
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_054012.4(ASS1):c.920G>A (p.Arg307His)
|
rs571576756
|
0.00002
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
NM_054012.4(ASS1):c.1075T>C (p.Tyr359His)
|
rs1262020902
|
0.00001
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_054012.4(ASS1):c.174+1G>T
|
rs748264993
|
0.00001
|
NM_054012.4(ASS1):c.175-1119G>A
|
rs1488840592
|
0.00001
|
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)
|
rs771594651
|
0.00001
|
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)
|
rs121908644
|
0.00001
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00001
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)
|
rs1311437424
|
0.00001
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
NM_054012.4(ASS1):c.773+49C>T
|
rs763389916
|
0.00001
|
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)
|
rs148918985
|
0.00001
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
NM_054012.4(ASS1):c.838+1G>T
|
rs750214431
|
0.00001
|
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)
|
rs886039853
|
0.00001
|
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)
|
rs1372482894
|
0.00001
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NC_000009.11:g.(?_133340833)_(133342151_?)del
|
|
|
NC_000009.11:g.(?_133346211)_(133346912_?)del
|
|
|
NC_000009.11:g.(?_133346862)_(133346912_?)dup
|
|
|
NC_000009.12:g.(?_130479706)_(130480459_?)del
|
|
|
NC_000009.12:g.(?_130489323)_(130489474_?)del
|
|
|
NM_000050.4(ASS1):c.366delG
|
rs1057516544
|
|
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter)
|
rs2118880170
|
|
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)
|
|
|
NM_054012.4(ASS1):c.1047del (p.Gln350fs)
|
|
|
NM_054012.4(ASS1):c.1075del (p.Tyr359fs)
|
rs1588508532
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.1096_1099dup (p.Leu367fs)
|
|
|
NM_054012.4(ASS1):c.1127+1G>A
|
rs1057517402
|
|
NM_054012.4(ASS1):c.1128-1del
|
|
|
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
|
|
|
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)
|
rs786204460
|
|
NM_054012.4(ASS1):c.1139del (p.Gln380fs)
|
rs1213378896
|
|
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs)
|
rs1846687897
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
NM_054012.4(ASS1):c.1186T>A (p.Ser396Thr)
|
|
|
NM_054012.4(ASS1):c.1193+1G>T
|
|
|
NM_054012.4(ASS1):c.1194-19_1197dup
|
|
|
NM_054012.4(ASS1):c.1194-1G>A
|
|
|
NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)
|
|
|
NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)
|
|
|
NM_054012.4(ASS1):c.173dup (p.Val59fs)
|
rs1554982243
|
|
NM_054012.4(ASS1):c.174+1G>C
|
|
|
NM_054012.4(ASS1):c.174+2T>C
|
|
|
NM_054012.4(ASS1):c.175-1G>A
|
rs1554982809
|
|
NM_054012.4(ASS1):c.175-2A>G
|
|
|
NM_054012.4(ASS1):c.1A>G (p.Met1Val)
|
rs750780742
|
|
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
|
|
|
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)
|
rs1554982824
|
|
NM_054012.4(ASS1):c.226del (p.Ala76fs)
|
rs1057516648
|
|
NM_054012.4(ASS1):c.246del (p.Tyr83fs)
|
|
|
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)
|
rs895822620
|
|
NM_054012.4(ASS1):c.262del (p.Leu88fs)
|
rs1588475891
|
|
NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)
|
|
|
NM_054012.4(ASS1):c.285del (p.Arg95fs)
|
|
|
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)
|
rs2131874080
|
|
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)
|
rs1554982847
|
|
NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)
|
rs745404241
|
|
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)
|
rs1845507027
|
|
NM_054012.4(ASS1):c.363+1G>A
|
|
|
NM_054012.4(ASS1):c.364-2A>T
|
rs774231051
|
|
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly)
|
rs771794639
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_054012.4(ASS1):c.381del (p.Phe128fs)
|
|
|
NM_054012.4(ASS1):c.391_398del (p.Ser131fs)
|
|
|
NM_054012.4(ASS1):c.3G>A (p.Met1Ile)
|
rs1057516960
|
|
NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)
|
|
|
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)
|
rs1057516339
|
|
NM_054012.4(ASS1):c.412del (p.Gln138fs)
|
|
|
NM_054012.4(ASS1):c.412dup (p.Gln138fs)
|
rs1554983717
|
|
NM_054012.4(ASS1):c.413del (p.Gln138fs)
|
|
|
NM_054012.4(ASS1):c.420+1G>A
|
rs1554983719
|
|
NM_054012.4(ASS1):c.420+1G>T
|
rs1554983719
|
|
NM_054012.4(ASS1):c.421-2A>C
|
rs751930594
|
|
NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)
|
|
|
NM_054012.4(ASS1):c.432_433del (p.Trp145fs)
|
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)
|
|
|
NM_054012.4(ASS1):c.495+1G>C
|
rs1845754405
|
|
NM_054012.4(ASS1):c.495+1G>T
|
rs1845754405
|
|
NM_054012.4(ASS1):c.495+2T>C
|
rs2131882609
|
|
NM_054012.4(ASS1):c.496-2A>G
|
rs398123130
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)
|
rs121908638
|
|
NM_054012.4(ASS1):c.552C>A (p.Asn184Lys)
|
|
|
NM_054012.4(ASS1):c.553C>T (p.Leu185Phe)
|
|
|
NM_054012.4(ASS1):c.559_566+13del
|
rs1554722453
|
|
NM_054012.4(ASS1):c.566+1G>T
|
rs1057520659
|
|
NM_054012.4(ASS1):c.567-1G>T
|
rs1057517259
|
|
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
|
|
|
NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)
|
rs777828000
|
|
NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)
|
|
|
NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)
|
|
|
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)
|
|
|
NM_054012.4(ASS1):c.66del (p.Trp23fs)
|
|
|
NM_054012.4(ASS1):c.688+1G>C
|
|
|
NM_054012.4(ASS1):c.688+1_688+5del
|
rs1554723160
|
|
NM_054012.4(ASS1):c.688+2T>C
|
rs2118832404
|
|
NM_054012.4(ASS1):c.688+2del
|
rs2118832409
|
|
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala)
|
rs1085307056
|
|
NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)
|
|
|
NM_054012.4(ASS1):c.726del (p.Thr243fs)
|
|
|
NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter)
|
rs1588495489
|
|
NM_054012.4(ASS1):c.773+1G>A
|
rs982830431
|
|
NM_054012.4(ASS1):c.773+4A>C
|
|
|
NM_054012.4(ASS1):c.773+4A>G
|
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_054012.4(ASS1):c.774-2del
|
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
NM_054012.4(ASS1):c.794G>T (p.Arg265Leu)
|
rs398123131
|
|
NM_054012.4(ASS1):c.812dup (p.Asn271fs)
|
rs759483921
|
|
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)
|
rs762387914
|
|
NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)
|
|
|
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)
|
rs1554723625
|
|
NM_054012.4(ASS1):c.830_831del (p.Lys277fs)
|
rs2118841816
|
|
NM_054012.4(ASS1):c.839-1G>A
|
|
|
NM_054012.4(ASS1):c.839-2A>T
|
rs2118864015
|
|
NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)
|
|
|
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)
|
rs549085827
|
|
NM_054012.4(ASS1):c.854C>A (p.Pro285Gln)
|
|
|
NM_054012.4(ASS1):c.880C>T (p.His294Tyr)
|
|
|
NM_054012.4(ASS1):c.904A>G (p.Met302Val)
|
rs1846391609
|
|
NM_054012.4(ASS1):c.907del (p.Asp303fs)
|
|
|
NM_054012.4(ASS1):c.917T>G (p.Val306Gly)
|
|
|
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)
|
rs1301613270
|
|
NM_054012.4(ASS1):c.951del (p.Phe317fs)
|
rs775791516
|
|
NM_054012.4(ASS1):c.95_105+4del
|
|
|
NM_054012.4(ASS1):c.970+1G>A
|
rs1396766124
|
|
NM_054012.4(ASS1):c.971-1G>A
|
rs1554725033
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_054012.4(ASS1):c.974dup (p.Trp326fs)
|
|
|
NM_054012.4(ASS1):c.978del (p.Trp326fs)
|
rs1057516338
|
|
NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)
|
|
|