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.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)
|
rs559043503
|
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.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)
|
rs775305020
|
0.00004
|
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)
|
rs770585183
|
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.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_054012.4(ASS1):c.1117G>T (p.Glu373Ter)
|
rs1453708640
|
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.256C>T (p.Arg86Cys)
|
rs121908644
|
0.00001
|
NM_054012.4(ASS1):c.257G>A (p.Arg86His)
|
rs575001023
|
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.380G>A (p.Arg127Gln)
|
rs201623252
|
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.773+49C>T
|
rs763389916
|
0.00001
|
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)
|
rs148918985
|
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.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NC_000009.11:g.(?_133319094)_(133377661_?)del
|
|
|
NC_000009.11:g.(?_133333768)_(133333996_?)del
|
|
|
NC_000009.11:g.(?_133339488)_(133339564_?)del
|
|
|
NC_000009.11:g.(?_133352248)_(133352358_?)del
|
|
|
NC_000009.11:g.(?_133352248)_(133355846_?)del
|
|
|
NC_000009.11:g.(?_133355093)_(133355236_?)del
|
|
|
NC_000009.12:g.(?_130464091)_(130464187_?)del
|
|
|
NC_000009.12:g.130479718dup
|
rs2118839419
|
|
NM_000050.4(ASS1):c.366delG
|
rs1057516544
|
|
NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter)
|
rs2118880115
|
|
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)
|
rs2118880266
|
|
NM_054012.4(ASS1):c.1060del (p.Leu354fs)
|
|
|
NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp)
|
rs1262020902
|
|
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)
|
rs121908647
|
|
NM_054012.4(ASS1):c.1090del (p.Glu364fs)
|
|
|
NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs)
|
rs2118880626
|
|
NM_054012.4(ASS1):c.1128-6_1188dup
|
rs1554725677
|
|
NM_054012.4(ASS1):c.1128_1134delinsG (p.Ser376_Asn378delinsArg)
|
rs1439911743
|
|
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)
|
rs786204460
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
NM_054012.4(ASS1):c.120del (p.Lys41fs)
|
rs1554982237
|
|
NM_054012.4(ASS1):c.138_139del (p.Glu46fs)
|
|
|
NM_054012.4(ASS1):c.174+1G>A
|
rs748264993
|
|
NM_054012.4(ASS1):c.188_189del (p.Asp63fs)
|
|
|
NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)
|
|
|
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)
|
rs1554982824
|
|
NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)
|
|
|
NM_054012.4(ASS1):c.241_242del (p.Ala81fs)
|
|
|
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)
|
rs895822620
|
|
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
|
|
|
NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
NM_054012.4(ASS1):c.339T>G (p.Tyr113Ter)
|
rs1845506282
|
|
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.373C>T (p.Gln125Ter)
|
rs2131879687
|
|
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)
|
rs1057516339
|
|
NM_054012.4(ASS1):c.412dup (p.Gln138fs)
|
rs1554983717
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
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.463A>T (p.Lys155Ter)
|
|
|
NM_054012.4(ASS1):c.484dup (p.Glu162fs)
|
rs1313340299
|
|
NM_054012.4(ASS1):c.489C>A (p.Tyr163Ter)
|
rs377319610
|
|
NM_054012.4(ASS1):c.489C>G (p.Tyr163Ter)
|
rs377319610
|
|
NM_054012.4(ASS1):c.490G>C (p.Ala164Pro)
|
rs201445618
|
|
NM_054012.4(ASS1):c.536G>A (p.Trp179Ter)
|
rs2131886482
|
|
NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)
|
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
|
|
|
NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)
|
|
|
NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)
|
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
NM_054012.4(ASS1):c.611del (p.Pro204fs)
|
rs2118832071
|
|
NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter)
|
rs2118832096
|
|
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)
|
|
|
NM_054012.4(ASS1):c.687dup (p.Gly230fs)
|
|
|
NM_054012.4(ASS1):c.773+1G>A
|
rs982830431
|
|
NM_054012.4(ASS1):c.773+1G>T
|
|
|
NM_054012.4(ASS1):c.773+4A>C
|
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
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>A (p.Arg272His)
|
rs768215008
|
|
NM_054012.4(ASS1):c.827_838+25del
|
|
|
NM_054012.4(ASS1):c.832del (p.Ser278fs)
|
rs1846142146
|
|
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)
|
rs549085827
|
|
NM_054012.4(ASS1):c.919C>A (p.Arg307Ser)
|
rs183276875
|
|
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)
|
rs1301613270
|
|
NM_054012.4(ASS1):c.944T>A (p.Leu315Ter)
|
rs2118864334
|
|
NM_054012.4(ASS1):c.951del (p.Phe317fs)
|
rs775791516
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_054012.4(ASS1):c.978del (p.Trp326fs)
|
rs1057516338
|
|
NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)
|
|
|