|
NM_054012.4(ASS1):c.597+81A>G
|
rs641510
|
0.91777
|
|
NM_054012.4(ASS1):c.838+38A>G
|
rs1215940
|
0.89625
|
|
NM_054012.4(ASS1):c.597+18A>G
|
rs652313
|
0.77461
|
|
NM_054012.4(ASS1):c.566+88C>T
|
rs493389
|
0.59097
|
|
NM_054012.4(ASS1):c.597+178G>A
|
rs486889
|
0.57370
|
|
NM_054012.4(ASS1):c.105+115G>A
|
rs1615006
|
0.56622
|
|
NM_054012.4(ASS1):c.175-1233G>A
|
rs1215988
|
0.32238
|
|
NM_000050.4(ASS1):c.-323G>T
|
rs2071367
|
0.18565
|
|
NM_054012.4(ASS1):c.501C>T (p.His167=)
|
rs10901072
|
0.12154
|
|
NM_054012.4(ASS1):c.876T>C (p.His292=)
|
rs1057484
|
0.10667
|
|
NM_054012.4(ASS1):c.174+21A>G
|
rs73541961
|
0.05590
|
|
NM_054012.4(ASS1):c.597+8C>T
|
rs77343702
|
0.04911
|
|
NM_054012.4(ASS1):c.496-36C>T
|
rs12343715
|
0.04390
|
|
NM_054012.4(ASS1):c.175-1129A>G
|
rs59227343
|
0.02410
|
|
NM_054012.4(ASS1):c.688+4T>C
|
rs78432485
|
0.02036
|
|
NM_054012.4(ASS1):c.-5-1883C>T
|
rs12004384
|
0.01076
|
|
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys)
|
rs74923032
|
0.00937
|
|
NM_054012.4(ASS1):c.364-6T>C
|
rs116103138
|
0.00881
|
|
NM_054012.4(ASS1):c.421-19C>T
|
rs138744326
|
0.00736
|
|
NM_054012.4(ASS1):c.675C>T (p.Ile225=)
|
rs58233547
|
0.00735
|
|
NM_054012.4(ASS1):c.106-10T>G
|
rs73541957
|
0.00593
|
|
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala)
|
rs62637575
|
0.00277
|
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
|
NM_054012.4(ASS1):c.363+16A>G
|
rs191432165
|
0.00099
|
|
NM_054012.4(ASS1):c.420+13T>G
|
rs201883474
|
0.00099
|
|
NM_054012.4(ASS1):c.106-16C>T
|
rs200396223
|
0.00096
|
|
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)
|
rs140715869
|
0.00094
|
|
NM_054012.4(ASS1):c.99C>T (p.Ala33=)
|
rs147842617
|
0.00081
|
|
NM_054012.4(ASS1):c.*223A>T
|
rs187259733
|
0.00080
|
|
NM_054012.4(ASS1):c.*55A>C
|
rs191668957
|
0.00051
|
|
NM_054012.4(ASS1):c.175-16G>T
|
rs373936572
|
0.00045
|
|
NM_054012.3(ASS1):c.-286_-285insT
|
rs886063525
|
0.00044
|
|
NM_054012.4(ASS1):c.322C>T (p.Arg108Trp)
|
rs143405567
|
0.00035
|
|
NM_054012.4(ASS1):c.411C>T (p.Pro137=)
|
rs139250536
|
0.00034
|
|
NM_054012.4(ASS1):c.333C>T (p.Ala111=)
|
rs141568959
|
0.00031
|
|
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr)
|
rs145100866
|
0.00028
|
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
|
NM_054012.4(ASS1):c.165G>A (p.Gly55=)
|
rs146333243
|
0.00024
|
|
NM_054012.4(ASS1):c.240C>T (p.Ser80=)
|
rs147910468
|
0.00023
|
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
|
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser)
|
rs565520844
|
0.00021
|
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
|
NM_054012.4(ASS1):c.330G>A (p.Gly110=)
|
rs780445340
|
0.00015
|
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
|
NM_054012.4(ASS1):c.351C>T (p.Gly117=)
|
rs2228429
|
0.00014
|
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
|
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr)
|
rs141640176
|
0.00013
|
|
NM_054012.4(ASS1):c.549G>A (p.Glu183=)
|
rs747401210
|
0.00013
|
|
NM_054012.4(ASS1):c.489C>T (p.Tyr163=)
|
rs377319610
|
0.00012
|
|
NM_054012.4(ASS1):c.18C>T (p.Ser6=)
|
rs555717331
|
0.00011
|
|
NM_054012.4(ASS1):c.963G>A (p.Val321=)
|
rs141053589
|
0.00011
|
|
NM_054012.4(ASS1):c.774-17A>G
|
rs372931120
|
0.00010
|
|
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.1056C>T (p.Ser352=)
|
rs766889925
|
0.00008
|
|
NM_054012.4(ASS1):c.175-5C>T
|
rs747058030
|
0.00008
|
|
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.174+10G>A
|
rs371597908
|
0.00007
|
|
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_054012.3(ASS1):c.-242G>C
|
rs567339064
|
0.00006
|
|
NM_054012.4(ASS1):c.*58C>T
|
rs183494785
|
0.00006
|
|
NM_054012.4(ASS1):c.1047G>T (p.Val349=)
|
rs376502913
|
0.00006
|
|
NM_054012.4(ASS1):c.1211G>A (p.Arg404His)
|
rs752612525
|
0.00006
|
|
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr)
|
rs150466363
|
0.00006
|
|
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln)
|
rs373239430
|
0.00006
|
|
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
|
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)
|
rs555388438
|
0.00005
|
|
NM_054012.4(ASS1):c.552C>T (p.Asn184=)
|
rs368192467
|
0.00005
|
|
NM_054012.4(ASS1):c.624G>A (p.Thr208=)
|
rs759518085
|
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.105+10C>T
|
rs1010509460
|
0.00004
|
|
NM_054012.4(ASS1):c.1059C>T (p.Val353=)
|
rs759769412
|
0.00004
|
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
|
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly)
|
rs374695792
|
0.00004
|
|
NM_054012.4(ASS1):c.348C>T (p.His116=)
|
rs770688393
|
0.00004
|
|
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)
|
rs775305020
|
0.00004
|
|
NM_054012.4(ASS1):c.421-8A>C
|
rs764424984
|
0.00004
|
|
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)
|
rs770585183
|
0.00004
|
|
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu)
|
rs768846877
|
0.00004
|
|
NM_054012.4(ASS1):c.564C>T (p.Ile188=)
|
rs2297599
|
0.00004
|
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
|
NM_054012.4(ASS1):c.796A>G (p.Ile266Val)
|
rs377221825
|
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.90C>T (p.Asp30=)
|
rs371519061
|
0.00004
|
|
NM_054012.3(ASS1):c.-101C>G
|
rs886063531
|
0.00003
|
|
NM_054012.3(ASS1):c.-278G>T
|
rs563156422
|
0.00003
|
|
NM_054012.4(ASS1):c.*110C>T
|
rs893210689
|
0.00003
|
|
NM_054012.4(ASS1):c.1057G>A (p.Val353Ile)
|
rs754285392
|
0.00003
|
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
|
NM_054012.4(ASS1):c.132C>T (p.Phe44=)
|
rs761408245
|
0.00003
|
|
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr)
|
rs142350255
|
0.00003
|
|
NM_054012.4(ASS1):c.175-4G>A
|
rs370817871
|
0.00003
|
|
NM_054012.4(ASS1):c.190G>A (p.Val64Ile)
|
rs556297791
|
0.00003
|
|
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)
|
rs370695114
|
0.00003
|
|
NM_054012.4(ASS1):c.33C>T (p.Tyr11=)
|
rs574820010
|
0.00003
|
|
NM_054012.4(ASS1):c.495+8C>T
|
rs762250168
|
0.00003
|
|
NM_054012.4(ASS1):c.570C>T (p.Tyr190=)
|
rs758481857
|
0.00003
|
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
|
NM_054012.4(ASS1):c.607C>A (p.Pro203Thr)
|
rs147858743
|
0.00003
|
|
NM_054012.4(ASS1):c.688+10C>T
|
rs890497211
|
0.00003
|
|
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr)
|
rs765748014
|
0.00003
|
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
|
NM_054012.4(ASS1):c.849G>A (p.Glu283=)
|
rs569267797
|
0.00003
|
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
|
NM_054012.4(ASS1):c.*129C>T
|
rs886063533
|
0.00002
|
|
NM_054012.4(ASS1):c.1127+15C>T
|
rs1057523862
|
0.00002
|
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
|
NM_054012.4(ASS1):c.144G>A (p.Arg48=)
|
rs756107583
|
0.00002
|
|
NM_054012.4(ASS1):c.294C>T (p.Ile98=)
|
rs183370361
|
0.00002
|
|
NM_054012.4(ASS1):c.336G>A (p.Lys112=)
|
rs374535616
|
0.00002
|
|
NM_054012.4(ASS1):c.381G>A (p.Arg127=)
|
rs1338613142
|
0.00002
|
|
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr)
|
rs201445618
|
0.00002
|
|
NM_054012.4(ASS1):c.495+9G>A
|
rs767706288
|
0.00002
|
|
NM_054012.4(ASS1):c.534G>A (p.Pro178=)
|
rs113818350
|
0.00002
|
|
NM_054012.4(ASS1):c.567-4G>A
|
rs754758285
|
0.00002
|
|
NM_054012.4(ASS1):c.567-5C>T
|
rs753543907
|
0.00002
|
|
NM_054012.4(ASS1):c.726C>T (p.Thr242=)
|
rs768496429
|
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.930A>G (p.Lys310=)
|
rs200219927
|
0.00002
|
|
NM_054012.4(ASS1):c.94A>G (p.Ile32Val)
|
rs142221856
|
0.00002
|
|
NM_054012.4(ASS1):c.966T>C (p.Tyr322=)
|
rs750851227
|
0.00002
|
|
NM_054012.4(ASS1):c.-5-10C>G
|
rs375136377
|
0.00001
|
|
NM_054012.4(ASS1):c.-5-12G>A
|
rs770116104
|
0.00001
|
|
NM_054012.4(ASS1):c.1014C>T (p.Ile338=)
|
rs749554993
|
0.00001
|
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
|
NM_054012.4(ASS1):c.105+14C>T
|
rs750278093
|
0.00001
|
|
NM_054012.4(ASS1):c.1051G>A (p.Val351Met)
|
rs773909247
|
0.00001
|
|
NM_054012.4(ASS1):c.1053G>A (p.Val351=)
|
rs761241799
|
0.00001
|
|
NM_054012.4(ASS1):c.1074G>A (p.Val358=)
|
rs1256882753
|
0.00001
|
|
NM_054012.4(ASS1):c.1075T>C (p.Tyr359His)
|
rs1262020902
|
0.00001
|
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
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.1127+8C>T
|
rs1231262490
|
0.00001
|
|
NM_054012.4(ASS1):c.1167C>T (p.Thr389=)
|
rs772796860
|
0.00001
|
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
|
NM_054012.4(ASS1):c.1194-10del
|
rs778919653
|
0.00001
|
|
NM_054012.4(ASS1):c.1197G>A (p.Leu399=)
|
rs1342431625
|
0.00001
|
|
NM_054012.4(ASS1):c.174+11G>A
|
rs771403927
|
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.183T>C (p.Ile61=)
|
rs1036284939
|
0.00001
|
|
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)
|
rs771594651
|
0.00001
|
|
NM_054012.4(ASS1):c.210G>A (p.Glu70=)
|
rs1465915503
|
0.00001
|
|
NM_054012.4(ASS1):c.225G>A (p.Pro75=)
|
rs765933359
|
0.00001
|
|
NM_054012.4(ASS1):c.246G>A (p.Leu82=)
|
rs757342268
|
0.00001
|
|
NM_054012.4(ASS1):c.247T>C (p.Tyr83His)
|
rs753659761
|
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.261C>T (p.Tyr87=)
|
rs749648285
|
0.00001
|
|
NM_054012.4(ASS1):c.315C>T (p.Ile105=)
|
rs953220613
|
0.00001
|
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
|
NM_054012.4(ASS1):c.369C>T (p.Asn123=)
|
rs761616623
|
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.390C>G (p.Leu130=)
|
rs760943587
|
0.00001
|
|
NM_054012.4(ASS1):c.39C>T (p.Gly13=)
|
rs769672308
|
0.00001
|
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
|
NM_054012.4(ASS1):c.423C>G (p.Val141=)
|
rs887468647
|
0.00001
|
|
NM_054012.4(ASS1):c.430C>T (p.Pro144Ser)
|
rs769831651
|
0.00001
|
|
NM_054012.4(ASS1):c.438G>A (p.Arg146=)
|
rs1180017518
|
0.00001
|
|
NM_054012.4(ASS1):c.513C>T (p.Ile171=)
|
rs1322818918
|
0.00001
|
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
|
NM_054012.4(ASS1):c.54G>A (p.Ser18=)
|
rs768923973
|
0.00001
|
|
NM_054012.4(ASS1):c.556A>G (p.Met186Val)
|
rs1845851030
|
0.00001
|
|
NM_054012.4(ASS1):c.561C>T (p.His187=)
|
rs1403877099
|
0.00001
|
|
NM_054012.4(ASS1):c.566+20C>T
|
rs572425289
|
0.00001
|
|
NM_054012.4(ASS1):c.566+9C>A
|
rs1445034997
|
0.00001
|
|
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)
|
rs1311437424
|
0.00001
|
|
NM_054012.4(ASS1):c.606G>A (p.Ala202=)
|
rs747850211
|
0.00001
|
|
NM_054012.4(ASS1):c.63C>T (p.Leu21=)
|
rs774476997
|
0.00001
|
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
|
NM_054012.4(ASS1):c.656C>A (p.Thr219Asn)
|
rs769538241
|
0.00001
|
|
NM_054012.4(ASS1):c.669C>T (p.Leu223=)
|
rs763203138
|
0.00001
|
|
NM_054012.4(ASS1):c.688+13C>T
|
rs1179330591
|
0.00001
|
|
NM_054012.4(ASS1):c.688+7G>T
|
rs1846038006
|
0.00001
|
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
|
NM_054012.4(ASS1):c.711C>T (p.Asn237=)
|
rs779981831
|
0.00001
|
|
NM_054012.4(ASS1):c.712G>A (p.Val238Ile)
|
rs368414392
|
0.00001
|
|
NM_054012.4(ASS1):c.771C>T (p.Val257=)
|
rs547904731
|
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.838+9G>A
|
rs760468184
|
0.00001
|
|
NM_054012.4(ASS1):c.839-6G>C
|
rs766187530
|
0.00001
|
|
NM_054012.4(ASS1):c.84C>A (p.Gly28=)
|
rs1386337873
|
0.00001
|
|
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)
|
rs886039853
|
0.00001
|
|
NM_054012.4(ASS1):c.889A>G (p.Ile297Val)
|
rs757629975
|
0.00001
|
|
NM_054012.4(ASS1):c.891C>T (p.Ile297=)
|
rs200900381
|
0.00001
|
|
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)
|
rs1372482894
|
0.00001
|
|
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly)
|
rs372061654
|
0.00001
|
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
|
NM_054012.4(ASS1):c.960G>A (p.Leu320=)
|
rs752064358
|
0.00001
|
|
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys)
|
rs373473841
|
0.00001
|
|
NM_054012.4(ASS1):c.969C>T (p.Thr323=)
|
rs756487535
|
0.00001
|
|
NM_054012.4(ASS1):c.970+4C>T
|
rs1460424492
|
0.00001
|
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
|
NM_054012.4(ASS1):c.990G>A (p.Glu330=)
|
rs746549187
|
0.00001
|
|
NC_000009.11:g.(?_133319094)_(133377661_?)del
|
|
|
|
NC_000009.11:g.(?_133327616)_(133352368_?)dup
|
|
|
|
NC_000009.11:g.(?_133333768)_(133333996_?)del
|
|
|
|
NC_000009.11:g.(?_133339488)_(133339564_?)del
|
|
|
|
NC_000009.11:g.(?_133340833)_(133342151_?)del
|
|
|
|
NC_000009.11:g.(?_133346211)_(133346912_?)del
|
|
|
|
NC_000009.11:g.(?_133346862)_(133346912_?)dup
|
|
|
|
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.(?_130452214)_(130454383_?)del
|
|
|
|
NC_000009.12:g.(?_130458401)_(130458589_?)del
|
|
|
|
NC_000009.12:g.(?_130464091)_(130464187_?)del
|
|
|
|
NC_000009.12:g.(?_130479706)_(130480459_?)del
|
|
|
|
NC_000009.12:g.(?_130489323)_(130489474_?)del
|
|
|
|
NC_000009.12:g.130479718dup
|
rs2118839419
|
|
|
NG_011542.1:g.(18884_24404)_(24462_27018)del
|
|
|
|
NM_000050.4(ASS1):c.366delG
|
rs1057516544
|
|
|
NM_000050.4(ASS1):c.[323G>T];[970+5G>A]
|
|
|
|
NM_000050.4:c.(174+1_175-1)_(363+1_364-1)del
|
|
|
|
NM_054012.3(ASS1):c.-300G>C
|
rs928360571
|
|
|
NM_054012.4(ASS1):c.*225_*228del
|
rs886063534
|
|
|
NM_054012.4(ASS1):c.*244T>C
|
rs1846749628
|
|
|
NM_054012.4(ASS1):c.-5-172T>C
|
rs1760275
|
|
|
NM_054012.4(ASS1):c.1009T>G (p.Cys337Gly)
|
rs1554725043
|
|
|
NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter)
|
rs2118880115
|
|
|
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter)
|
rs2118880170
|
|
|
NM_054012.4(ASS1):c.1020G>A (p.Lys340=)
|
|
|
|
NM_054012.4(ASS1):c.1025A>C (p.Gln342Pro)
|
|
|
|
NM_054012.4(ASS1):c.1025A>G (p.Gln342Arg)
|
rs1554725061
|
|
|
NM_054012.4(ASS1):c.102T>C (p.Tyr34=)
|
rs1236633346
|
|
|
NM_054012.4(ASS1):c.1035G>A (p.Val345=)
|
rs2118880192
|
|
|
NM_054012.4(ASS1):c.1041G>A (p.Gly347=)
|
|
|
|
NM_054012.4(ASS1):c.1041G>T (p.Gly347=)
|
|
|
|
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)
|
|
|
|
NM_054012.4(ASS1):c.1047del (p.Gln350fs)
|
|
|
|
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)
|
rs2118880266
|
|
|
NM_054012.4(ASS1):c.105+10C>A
|
rs1010509460
|
|
|
NM_054012.4(ASS1):c.105+11G>A
|
|
|
|
NM_054012.4(ASS1):c.105+14C>G
|
|
|
|
NM_054012.4(ASS1):c.105+17G>C
|
|
|
|
NM_054012.4(ASS1):c.105+5G>A
|
rs1329809424
|
|
|
NM_054012.4(ASS1):c.105+7G>A
|
|
|
|
NM_054012.4(ASS1):c.106-14C>T
|
|
|
|
NM_054012.4(ASS1):c.106-15G>A
|
rs77534228
|
|
|
NM_054012.4(ASS1):c.106-15G>C
|
|
|
|
NM_054012.4(ASS1):c.106-15G>T
|
|
|
|
NM_054012.4(ASS1):c.106-19C>G
|
|
|
|
NM_054012.4(ASS1):c.106-5C>T
|
|
|
|
NM_054012.4(ASS1):c.1060del (p.Leu354fs)
|
|
|
|
NM_054012.4(ASS1):c.1062C>G (p.Leu354=)
|
rs763822587
|
|
|
NM_054012.4(ASS1):c.1062C>T (p.Leu354=)
|
rs763822587
|
|
|
NM_054012.4(ASS1):c.1067G>T (p.Gly356Val)
|
rs1261110148
|
|
|
NM_054012.4(ASS1):c.1070A>G (p.Gln357Arg)
|
rs1846543789
|
|
|
NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp)
|
rs1262020902
|
|
|
NM_054012.4(ASS1):c.1075del (p.Tyr359fs)
|
rs1588508532
|
|
|
NM_054012.4(ASS1):c.1077C>T (p.Tyr359=)
|
|
|
|
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)
|
rs121908647
|
|
|
NM_054012.4(ASS1):c.1086C>T (p.Gly362=)
|
|
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
|
NM_054012.4(ASS1):c.1090del (p.Glu364fs)
|
|
|
|
NM_054012.4(ASS1):c.1104T>C (p.Ser368=)
|
|
|
|
NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs)
|
rs2118880626
|
|
|
NM_054012.4(ASS1):c.1110C>T (p.Tyr370=)
|
rs1588508629
|
|
|
NM_054012.4(ASS1):c.1118_1123del (p.Glu373_Leu374del)
|
rs2118880656
|
|
|
NM_054012.4(ASS1):c.111C>T (p.Asn37=)
|
|
|
|
NM_054012.4(ASS1):c.1125G>A (p.Val375=)
|
|
|
|
NM_054012.4(ASS1):c.1127+10C>T
|
|
|
|
NM_054012.4(ASS1):c.1127+17_1127+27del
|
|
|
|
NM_054012.4(ASS1):c.1127+18C>T
|
|
|
|
NM_054012.4(ASS1):c.1127+1G>A
|
rs1057517402
|
|
|
NM_054012.4(ASS1):c.1128-12C>T
|
|
|
|
NM_054012.4(ASS1):c.1128-16T>C
|
|
|
|
NM_054012.4(ASS1):c.1128-20A>G
|
|
|
|
NM_054012.4(ASS1):c.1128-4G>A
|
|
|
|
NM_054012.4(ASS1):c.1128-6_1188dup
|
rs1554725677
|
|
|
NM_054012.4(ASS1):c.1128-7C>T
|
rs1846686034
|
|
|
NM_054012.4(ASS1):c.1128_1134delinsG (p.Ser376_Asn378delinsArg)
|
rs1439911743
|
|
|
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
|
|
|
|
NM_054012.4(ASS1):c.1135G>A (p.Val379Met)
|
|
|
|
NM_054012.4(ASS1):c.1137G>A (p.Val379=)
|
|
|
|
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)
|
rs786204460
|
|
|
NM_054012.4(ASS1):c.1139del (p.Gln380fs)
|
rs1213378896
|
|
|
NM_054012.4(ASS1):c.1149T>C (p.Tyr383=)
|
|
|
|
NM_054012.4(ASS1):c.1152G>A (p.Glu384=)
|
rs2118893688
|
|
|
NM_054012.4(ASS1):c.1153C>G (p.Pro385Ala)
|
|
|
|
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs)
|
rs1846687897
|
|
|
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg)
|
rs2131869276
|
|
|
NM_054012.4(ASS1):c.1161T>C (p.Asp387=)
|
rs1193686175
|
|
|
NM_054012.4(ASS1):c.1162G>T (p.Ala388Ser)
|
|
|
|
NM_054012.4(ASS1):c.1164C>T (p.Ala388=)
|
|
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
|
NM_054012.4(ASS1):c.1167C>G (p.Thr389=)
|
rs772796860
|
|
|
NM_054012.4(ASS1):c.1170G>A (p.Gly390=)
|
rs1332789289
|
|
|
NM_054012.4(ASS1):c.1170G>C (p.Gly390=)
|
rs1332789289
|
|
|
NM_054012.4(ASS1):c.1170G>T (p.Gly390=)
|
rs1332789289
|
|
|
NM_054012.4(ASS1):c.1176C>G (p.Ile392Met)
|
|
|
|
NM_054012.4(ASS1):c.1176C>T (p.Ile392=)
|
|
|
|
NM_054012.4(ASS1):c.1179C>T (p.Asn393=)
|
rs754836732
|
|
|
NM_054012.4(ASS1):c.117C>G (p.Gly39=)
|
rs1378899995
|
|
|
NM_054012.4(ASS1):c.117C>T (p.Gly39=)
|
|
|
|
NM_054012.4(ASS1):c.1188C>A (p.Ser396=)
|
|
|
|
NM_054012.4(ASS1):c.1191C>G (p.Leu397=)
|
|
|
|
NM_054012.4(ASS1):c.1191C>T (p.Leu397=)
|
rs2118893885
|
|
|
NM_054012.4(ASS1):c.1193+14G>C
|
|
|
|
NM_054012.4(ASS1):c.1193+18C>G
|
|
|
|
NM_054012.4(ASS1):c.1193+1G>T
|
|
|
|
NM_054012.4(ASS1):c.1193+7A>G
|
|
|
|
NM_054012.4(ASS1):c.1193+8G>A
|
|
|
|
NM_054012.4(ASS1):c.1194-19_1197dup
|
|
|
|
NM_054012.4(ASS1):c.1194-8G>A
|
rs2118897971
|
|
|
NM_054012.4(ASS1):c.1194-9G>T
|
|
|
|
NM_054012.4(ASS1):c.1194G>C (p.Arg398Ser)
|
|
|
|
NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)
|
|
|
|
NM_054012.4(ASS1):c.1200G>A (p.Lys400=)
|
|
|
|
NM_054012.4(ASS1):c.1201G>A (p.Glu401Lys)
|
rs990803455
|
|
|
NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del)
|
rs1554725909
|
|
|
NM_054012.4(ASS1):c.120del (p.Lys41fs)
|
rs1554982237
|
|
|
NM_054012.4(ASS1):c.1215C>G (p.Leu405=)
|
rs1278858341
|
|
|
NM_054012.4(ASS1):c.1233C>T (p.Ala411=)
|
rs2118898134
|
|
|
NM_054012.4(ASS1):c.123G>A (p.Lys41=)
|
|
|
|
NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)
|
|
|
|
NM_054012.4(ASS1):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_054012.4(ASS1):c.138_139del (p.Glu46fs)
|
|
|
|
NM_054012.4(ASS1):c.140C>T (p.Ala47Val)
|
rs1301161301
|
|
|
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala)
|
rs201700775
|
|
|
NM_054012.4(ASS1):c.153A>G (p.Ala51=)
|
|
|
|
NM_054012.4(ASS1):c.159G>A (p.Lys53=)
|
rs2131869324
|
|
|
NM_054012.4(ASS1):c.160C>G (p.Leu54Val)
|
rs1564902078
|
|
|
NM_054012.4(ASS1):c.165G>T (p.Gly55=)
|
rs146333243
|
|
|
NM_054012.4(ASS1):c.167C>A (p.Ala56Asp)
|
rs2131869336
|
|
|
NM_054012.4(ASS1):c.16T>G (p.Ser6Ala)
|
|
|
|
NM_054012.4(ASS1):c.173dup (p.Val59fs)
|
rs1554982243
|
|
|
NM_054012.4(ASS1):c.174+14G>A
|
rs1554982247
|
|
|
NM_054012.4(ASS1):c.174+16C>G
|
|
|
|
NM_054012.4(ASS1):c.174+18G>A
|
|
|
|
NM_054012.4(ASS1):c.174+1G>A
|
rs748264993
|
|
|
NM_054012.4(ASS1):c.174+1G>C
|
|
|
|
NM_054012.4(ASS1):c.174+7G>A
|
|
|
|
NM_054012.4(ASS1):c.174+8G>T
|
|
|
|
NM_054012.4(ASS1):c.175-10C>T
|
rs1412793547
|
|
|
NM_054012.4(ASS1):c.175-12C>T
|
|
|
|
NM_054012.4(ASS1):c.175-13C>T
|
|
|
|
NM_054012.4(ASS1):c.175-15CTC[3]
|
|
|
|
NM_054012.4(ASS1):c.175-19T>C
|
|
|
|
NM_054012.4(ASS1):c.175-1G>A
|
rs1554982809
|
|
|
NM_054012.4(ASS1):c.175-20C>T
|
|
|
|
NM_054012.4(ASS1):c.175-2A>G
|
|
|
|
NM_054012.4(ASS1):c.175-4G>C
|
rs370817871
|
|
|
NM_054012.4(ASS1):c.175-6C>G
|
|
|
|
NM_054012.4(ASS1):c.175-7C>A
|
|
|
|
NM_054012.4(ASS1):c.175-7C>G
|
rs567594559
|
|
|
NM_054012.4(ASS1):c.177G>A (p.Val59=)
|
|
|
|
NM_054012.4(ASS1):c.180C>T (p.Phe60=)
|
|
|
|
NM_054012.4(ASS1):c.182T>C (p.Ile61Thr)
|
|
|
|
NM_054012.4(ASS1):c.186G>A (p.Glu62=)
|
|
|
|
NM_054012.4(ASS1):c.188_189del (p.Asp63fs)
|
|
|
|
NM_054012.4(ASS1):c.189T>C (p.Asp63=)
|
|
|
|
NM_054012.4(ASS1):c.18C>G (p.Ser6=)
|
rs555717331
|
|
|
NM_054012.4(ASS1):c.198G>A (p.Arg66=)
|
|
|
|
NM_054012.4(ASS1):c.199G>A (p.Glu67Lys)
|
|
|
|
NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)
|
|
|
|
NM_054012.4(ASS1):c.1A>G (p.Met1Val)
|
rs750780742
|
|
|
NM_054012.4(ASS1):c.207G>A (p.Val69=)
|
rs2131873972
|
|
|
NM_054012.4(ASS1):c.213G>A (p.Glu71=)
|
rs373501531
|
|
|
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
|
|
|
|
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)
|
rs1554982824
|
|
|
NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)
|
|
|
|
NM_054012.4(ASS1):c.226del (p.Ala76fs)
|
rs1057516648
|
|
|
NM_054012.4(ASS1):c.231C>G (p.Ile77Met)
|
|
|
|
NM_054012.4(ASS1):c.234G>A (p.Gln78=)
|
|
|
|
NM_054012.4(ASS1):c.241_242del (p.Ala81fs)
|
|
|
|
NM_054012.4(ASS1):c.246del (p.Tyr83fs)
|
|
|
|
NM_054012.4(ASS1):c.250G>A (p.Glu84Lys)
|
rs1554982834
|
|
|
NM_054012.4(ASS1):c.258C>T (p.Arg86=)
|
|
|
|
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)
|
rs895822620
|
|
|
NM_054012.4(ASS1):c.262del (p.Leu88fs)
|
rs1588475891
|
|
|
NM_054012.4(ASS1):c.264C>T (p.Leu88=)
|
|
|
|
NM_054012.4(ASS1):c.267G>C (p.Leu89=)
|
|
|
|
NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)
|
|
|
|
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
|
|
|
|
NM_054012.4(ASS1):c.273C>G (p.Thr91=)
|
|
|
|
NM_054012.4(ASS1):c.285_286delinsTT (p.Arg95_Pro96delinsSerSer)
|
|
|
|
NM_054012.4(ASS1):c.285del (p.Arg95fs)
|
|
|
|
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)
|
rs2131874080
|
|
|
NM_054012.4(ASS1):c.28G>C (p.Ala10Pro)
|
rs1845345016
|
|
|
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)
|
rs1554982847
|
|
|
NM_054012.4(ASS1):c.294C>A (p.Ile98=)
|
rs183370361
|
|
|
NM_054012.4(ASS1):c.299del (p.Arg100fs)
|
|
|
|
NM_054012.4(ASS1):c.300C>T (p.Arg100=)
|
|
|
|
NM_054012.4(ASS1):c.309G>A (p.Val103=)
|
rs1845505058
|
|
|
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser)
|
rs1845505181
|
|
|
NM_054012.4(ASS1):c.317C>G (p.Ala106Gly)
|
|
|
|
NM_054012.4(ASS1):c.318C>T (p.Ala106=)
|
|
|
|
NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
|
NM_054012.4(ASS1):c.322C>A (p.Arg108=)
|
rs143405567
|
|
|
NM_054012.4(ASS1):c.323G>A (p.Arg108Gln)
|
|
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
|
NM_054012.4(ASS1):c.324G>A (p.Arg108=)
|
|
|
|
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.360A>G (p.Gly120=)
|
|
|
|
NM_054012.4(ASS1):c.363+17G>T
|
|
|
|
NM_054012.4(ASS1):c.363+19G>T
|
|
|
|
NM_054012.4(ASS1):c.363+1G>A
|
|
|
|
NM_054012.4(ASS1):c.363+20C>G
|
|
|
|
NM_054012.4(ASS1):c.363+7C>T
|
|
|
|
NM_054012.4(ASS1):c.363+8A>C
|
|
|
|
NM_054012.4(ASS1):c.363+9C>T
|
rs2131874222
|
|
|
NM_054012.4(ASS1):c.363G>A (p.Lys121=)
|
rs2131874200
|
|
|
NM_054012.4(ASS1):c.364-2A>C
|
|
|
|
NM_054012.4(ASS1):c.364-2A>G
|
rs774231051
|
|
|
NM_054012.4(ASS1):c.364-2A>T
|
rs774231051
|
|
|
NM_054012.4(ASS1):c.364-7A>C
|
|
|
|
NM_054012.4(ASS1):c.366G>T (p.Gly122=)
|
|
|
|
NM_054012.4(ASS1):c.370G>T (p.Asp124Tyr)
|
|
|
|
NM_054012.4(ASS1):c.373C>T (p.Gln125Ter)
|
rs2131879687
|
|
|
NM_054012.4(ASS1):c.378C>G (p.Val126=)
|
|
|
|
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.391_398del (p.Ser131fs)
|
|
|
|
NM_054012.4(ASS1):c.399C>T (p.Tyr133=)
|
rs766423479
|
|
|
NM_054012.4(ASS1):c.3G>A (p.Met1Ile)
|
rs1057516960
|
|
|
NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)
|
|
|
|
NM_054012.4(ASS1):c.403C>T (p.Leu135=)
|
|
|
|
NM_054012.4(ASS1):c.404T>C (p.Leu135Pro)
|
|
|
|
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del)
|
rs1554983716
|
|
|
NM_054012.4(ASS1):c.408C>A (p.Ala136=)
|
|
|
|
NM_054012.4(ASS1):c.408C>T (p.Ala136=)
|
rs765880041
|
|
|
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.420+10G>T
|
|
|
|
NM_054012.4(ASS1):c.420+12C>T
|
|
|
|
NM_054012.4(ASS1):c.420+13T>A
|
|
|
|
NM_054012.4(ASS1):c.420+18C>G
|
|
|
|
NM_054012.4(ASS1):c.420+19C>A
|
rs2131879768
|
|
|
NM_054012.4(ASS1):c.420+1G>A
|
rs1554983719
|
|
|
NM_054012.4(ASS1):c.420+1G>T
|
rs1554983719
|
|
|
NM_054012.4(ASS1):c.420+3A>G
|
|
|
|
NM_054012.4(ASS1):c.420+8G>A
|
|
|
|
NM_054012.4(ASS1):c.421-11C>G
|
|
|
|
NM_054012.4(ASS1):c.421-14T>C
|
|
|
|
NM_054012.4(ASS1):c.421-16C>T
|
|
|
|
NM_054012.4(ASS1):c.421-17C>G
|
|
|
|
NM_054012.4(ASS1):c.421-18C>A
|
|
|
|
NM_054012.4(ASS1):c.421-2A>C
|
rs751930594
|
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
|
NM_054012.4(ASS1):c.421-7T>C
|
rs1588483261
|
|
|
NM_054012.4(ASS1):c.421-8A>G
|
rs764424984
|
|
|
NM_054012.4(ASS1):c.421-8A>T
|
rs764424984
|
|
|
NM_054012.4(ASS1):c.426T>A (p.Ile142=)
|
rs2131882512
|
|
|
NM_054012.4(ASS1):c.429T>C (p.Ala143=)
|
|
|
|
NM_054012.4(ASS1):c.42C>G (p.Gly14=)
|
|
|
|
NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)
|
|
|
|
NM_054012.4(ASS1):c.432_433del (p.Trp145fs)
|
|
|
|
NM_054012.4(ASS1):c.439A>C (p.Met147Leu)
|
rs2131882521
|
|
|
NM_054012.4(ASS1):c.444T>C (p.Pro148=)
|
rs1564907641
|
|
|
NM_054012.4(ASS1):c.447A>G (p.Glu149=)
|
|
|
|
NM_054012.4(ASS1):c.450C>T (p.Phe150=)
|
rs2131882534
|
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
|
NM_054012.4(ASS1):c.456C>T (p.Asn152=)
|
|
|
|
NM_054012.4(ASS1):c.457C>A (p.Arg153=)
|
rs576636333
|
|
|
NM_054012.4(ASS1):c.459G>T (p.Arg153=)
|
|
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
|
NM_054012.4(ASS1):c.462C>T (p.Phe154=)
|
|
|
|
NM_054012.4(ASS1):c.463A>T (p.Lys155Ter)
|
|
|
|
NM_054012.4(ASS1):c.471C>T (p.Arg157=)
|
|
|
|
NM_054012.4(ASS1):c.472A>G (p.Asn158Asp)
|
rs1199062770
|
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
|
NM_054012.4(ASS1):c.481A>T (p.Met161Leu)
|
|
|
|
NM_054012.4(ASS1):c.484dup (p.Glu162fs)
|
rs1313340299
|
|
|
NM_054012.4(ASS1):c.486G>A (p.Glu162=)
|
|
|
|
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.493A>T (p.Lys165Ter)
|
|
|
|
NM_054012.4(ASS1):c.495+11G>C
|
|
|
|
NM_054012.4(ASS1):c.495+15C>A
|
|
|
|
NM_054012.4(ASS1):c.495+16C>T
|
|
|
|
NM_054012.4(ASS1):c.495+1G>C
|
rs1845754405
|
|
|
NM_054012.4(ASS1):c.495+1G>T
|
rs1845754405
|
|
|
NM_054012.4(ASS1):c.495+20C>G
|
|
|
|
NM_054012.4(ASS1):c.495+20C>T
|
|
|
|
NM_054012.4(ASS1):c.495+2T>C
|
rs2131882609
|
|
|
NM_054012.4(ASS1):c.495+7C>T
|
|
|
|
NM_054012.4(ASS1):c.495+84A>C
|
rs11243414
|
|
|
NM_054012.4(ASS1):c.496-15_496-14del
|
|
|
|
NM_054012.4(ASS1):c.496-16T>C
|
|
|
|
NM_054012.4(ASS1):c.496-18G>T
|
|
|
|
NM_054012.4(ASS1):c.496-20G>A
|
|
|
|
NM_054012.4(ASS1):c.496-2A>G
|
rs398123130
|
|
|
NM_054012.4(ASS1):c.496-5T>C
|
|
|
|
NM_054012.4(ASS1):c.496-7C>G
|
|
|
|
NM_054012.4(ASS1):c.500A>G (p.His167Arg)
|
|
|
|
NM_054012.4(ASS1):c.502G>A (p.Gly168Arg)
|
|
|
|
NM_054012.4(ASS1):c.515C>G (p.Pro172Arg)
|
rs372078387
|
|
|
NM_054012.4(ASS1):c.515C>T (p.Pro172Leu)
|
rs372078387
|
|
|
NM_054012.4(ASS1):c.516G>C (p.Pro172=)
|
|
|
|
NM_054012.4(ASS1):c.518T>A (p.Val173Asp)
|
rs1588486990
|
|
|
NM_054012.4(ASS1):c.51C>T (p.Thr17=)
|
rs1045437120
|
|
|
NM_054012.4(ASS1):c.536G>A (p.Trp179Ter)
|
rs2131886482
|
|
|
NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)
|
|
|
|
NM_054012.4(ASS1):c.537G>C (p.Trp179Cys)
|
rs1409764603
|
|
|
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.544G>A (p.Asp182Asn)
|
|
|
|
NM_054012.4(ASS1):c.557T>G (p.Met186Arg)
|
rs1564151430
|
|
|
NM_054012.4(ASS1):c.559_566+13del
|
rs1554722453
|
|
|
NM_054012.4(ASS1):c.566+12C>T
|
|
|
|
NM_054012.4(ASS1):c.566+14T>G
|
|
|
|
NM_054012.4(ASS1):c.566+18C>G
|
rs200036163
|
|
|
NM_054012.4(ASS1):c.566+18C>T
|
rs200036163
|
|
|
NM_054012.4(ASS1):c.566+1G>T
|
rs1057520659
|
|
|
NM_054012.4(ASS1):c.566+7C>T
|
|
|
|
NM_054012.4(ASS1):c.566+8C>T
|
rs773713440
|
|
|
NM_054012.4(ASS1):c.566+9C>T
|
rs1445034997
|
|
|
NM_054012.4(ASS1):c.567-14T>C
|
|
|
|
NM_054012.4(ASS1):c.567-1G>T
|
rs1057517259
|
|
|
NM_054012.4(ASS1):c.567-20C>T
|
|
|
|
NM_054012.4(ASS1):c.567-5C>G
|
|
|
|
NM_054012.4(ASS1):c.567-6C>A
|
|
|
|
NM_054012.4(ASS1):c.567-6C>G
|
|
|
|
NM_054012.4(ASS1):c.567-6C>T
|
rs1554722504
|
|
|
NM_054012.4(ASS1):c.567-9C>A
|
|
|
|
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
|
|
|
|
NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)
|
rs777828000
|
|
|
NM_054012.4(ASS1):c.572A>C (p.Glu191Ala)
|
rs2131887113
|
|
|
NM_054012.4(ASS1):c.574G>A (p.Ala192Thr)
|
rs568893606
|
|
|
NM_054012.4(ASS1):c.576T>G (p.Ala192=)
|
|
|
|
NM_054012.4(ASS1):c.578G>C (p.Gly193Ala)
|
rs2131887129
|
|
|
NM_054012.4(ASS1):c.579A>G (p.Gly193=)
|
|
|
|
NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)
|
|
|
|
NM_054012.4(ASS1):c.582C>T (p.Ile194=)
|
rs2131887137
|
|
|
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro)
|
rs796051936
|
|
|
NM_054012.4(ASS1):c.585G>A (p.Leu195=)
|
rs2131887144
|
|
|
NM_054012.4(ASS1):c.586G>A (p.Glu196Lys)
|
rs1845865147
|
|
|
NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)
|
|
|
|
NM_054012.4(ASS1):c.591C>T (p.Asn197=)
|
rs1355715277
|
|
|
NM_054012.4(ASS1):c.594C>T (p.Pro198=)
|
rs1588487651
|
|
|
NM_054012.4(ASS1):c.597+10del
|
|
|
|
NM_054012.4(ASS1):c.597+14C>A
|
|
|
|
NM_054012.4(ASS1):c.597+18=
|
|
|
|
NM_054012.4(ASS1):c.597+19T>A
|
|
|
|
NM_054012.4(ASS1):c.597+7C>A
|
|
|
|
NM_054012.4(ASS1):c.598-12G>A
|
|
|
|
NM_054012.4(ASS1):c.598-12_598-9del
|
|
|
|
NM_054012.4(ASS1):c.598-14_598-13del
|
|
|
|
NM_054012.4(ASS1):c.598-20C>G
|
|
|
|
NM_054012.4(ASS1):c.598-20C>T
|
|
|
|
NM_054012.4(ASS1):c.598-2_599dup
|
rs1554723138
|
|
|
NM_054012.4(ASS1):c.598-5T>C
|
rs2118831930
|
|
|
NM_054012.4(ASS1):c.598-5_598-4del
|
rs749907969
|
|
|
NM_054012.4(ASS1):c.598-7T>C
|
|
|
|
NM_054012.4(ASS1):c.598-9T>G
|
|
|
|
NM_054012.4(ASS1):c.601C>G (p.Gln201Glu)
|
|
|
|
NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)
|
|
|
|
NM_054012.4(ASS1):c.603A>G (p.Gln201=)
|
|
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
|
NM_054012.4(ASS1):c.60C>T (p.Ile20=)
|
|
|
|
NM_054012.4(ASS1):c.611del (p.Pro204fs)
|
rs2118832071
|
|
|
NM_054012.4(ASS1):c.617T>A (p.Leu206His)
|
|
|
|
NM_054012.4(ASS1):c.618C>T (p.Leu206=)
|
rs2118832086
|
|
|
NM_054012.4(ASS1):c.619T>C (p.Tyr207His)
|
|
|
|
NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)
|
|
|
|
NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)
|
|
|
|
NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter)
|
rs2118832096
|
|
|
NM_054012.4(ASS1):c.621C>T (p.Tyr207=)
|
rs2118832096
|
|
|
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg)
|
rs776441071
|
|
|
NM_054012.4(ASS1):c.625A>G (p.Lys209Glu)
|
|
|
|
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)
|
|
|
|
NM_054012.4(ASS1):c.638C>T (p.Pro213Leu)
|
rs1486449199
|
|
|
NM_054012.4(ASS1):c.639A>G (p.Pro213=)
|
|
|
|
NM_054012.4(ASS1):c.63C>A (p.Leu21=)
|
rs774476997
|
|
|
NM_054012.4(ASS1):c.645A>G (p.Lys215=)
|
rs2118832166
|
|
|
NM_054012.4(ASS1):c.646G>A (p.Ala216Thr)
|
|
|
|
NM_054012.4(ASS1):c.648C>T (p.Ala216=)
|
|
|
|
NM_054012.4(ASS1):c.651C>A (p.Pro217=)
|
|
|
|
NM_054012.4(ASS1):c.653A>G (p.Asn218Ser)
|
|
|
|
NM_054012.4(ASS1):c.654C>T (p.Asn218=)
|
rs1846035986
|
|
|
NM_054012.4(ASS1):c.65T>G (p.Val22Gly)
|
|
|
|
NM_054012.4(ASS1):c.663C>T (p.Asp221=)
|
|
|
|
NM_054012.4(ASS1):c.669C>G (p.Leu223=)
|
|
|
|
NM_054012.4(ASS1):c.66del (p.Trp23fs)
|
|
|
|
NM_054012.4(ASS1):c.676G>A (p.Glu226Lys)
|
|
|
|
NM_054012.4(ASS1):c.687dup (p.Gly230fs)
|
|
|
|
NM_054012.4(ASS1):c.688+10_688+13dup
|
|
|
|
NM_054012.4(ASS1):c.688+12C>A
|
|
|
|
NM_054012.4(ASS1):c.688+16T>C
|
|
|
|
NM_054012.4(ASS1):c.688+19G>A
|
|
|
|
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.689-4C>T
|
rs756916286
|
|
|
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala)
|
rs1085307056
|
|
|
NM_054012.4(ASS1):c.693C>T (p.Val231=)
|
|
|
|
NM_054012.4(ASS1):c.696T>C (p.Pro232=)
|
|
|
|
NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)
|
|
|
|
NM_054012.4(ASS1):c.710A>T (p.Asn237Ile)
|
|
|
|
NM_054012.4(ASS1):c.714C>G (p.Val238=)
|
rs1252459333
|
|
|
NM_054012.4(ASS1):c.714C>T (p.Val238=)
|
rs1252459333
|
|
|
NM_054012.4(ASS1):c.720T>C (p.Asp240=)
|
rs2118839526
|
|
|
NM_054012.4(ASS1):c.723C>G (p.Gly241=)
|
|
|
|
NM_054012.4(ASS1):c.729C>A (p.Thr243=)
|
rs370892743
|
|
|
NM_054012.4(ASS1):c.729C>G (p.Thr243=)
|
rs370892743
|
|
|
NM_054012.4(ASS1):c.729C>T (p.Thr243=)
|
rs370892743
|
|
|
NM_054012.4(ASS1):c.738C>T (p.Thr246=)
|
rs2118839595
|
|
|
NM_054012.4(ASS1):c.742T>C (p.Leu248=)
|
|
|
|
NM_054012.4(ASS1):c.748C>T (p.Leu250Phe)
|
rs772369785
|
|
|
NM_054012.4(ASS1):c.753C>T (p.Phe251=)
|
rs2118839625
|
|
|
NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter)
|
rs1588495489
|
|
|
NM_054012.4(ASS1):c.759C>T (p.Tyr253=)
|
rs1588495489
|
|
|
NM_054012.4(ASS1):c.760C>T (p.Leu254=)
|
|
|
|
NM_054012.4(ASS1):c.773+12C>T
|
|
|
|
NM_054012.4(ASS1):c.773+18T>C
|
|
|
|
NM_054012.4(ASS1):c.773+1G>A
|
rs982830431
|
|
|
NM_054012.4(ASS1):c.773+1G>T
|
|
|
|
NM_054012.4(ASS1):c.773+20T>C
|
|
|
|
NM_054012.4(ASS1):c.773+23G>T
|
rs146390729
|
|
|
NM_054012.4(ASS1):c.773+2dup
|
|
|
|
NM_054012.4(ASS1):c.773+4A>C
|
|
|
|
NM_054012.4(ASS1):c.773+4_773+31dup
|
rs768271017
|
|
|
NM_054012.4(ASS1):c.773+8T>C
|
rs1588495530
|
|
|
NM_054012.4(ASS1):c.774-10C>T
|
rs2118841498
|
|
|
NM_054012.4(ASS1):c.774-15C>T
|
|
|
|
NM_054012.4(ASS1):c.774-20T>C
|
|
|
|
NM_054012.4(ASS1):c.774-28G>T
|
rs151042066
|
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
|
NM_054012.4(ASS1):c.774-2del
|
|
|
|
NM_054012.4(ASS1):c.774-4A>G
|
|
|
|
NM_054012.4(ASS1):c.774-5C>G
|
|
|
|
NM_054012.4(ASS1):c.774-5C>T
|
rs767417181
|
|
|
NM_054012.4(ASS1):c.774-7C>T
|
|
|
|
NM_054012.4(ASS1):c.789G>A (p.Val263=)
|
rs1419381608
|
|
|
NM_054012.4(ASS1):c.790G>A (p.Gly264Ser)
|
|
|
|
NM_054012.4(ASS1):c.791G>T (p.Gly264Val)
|
rs1846139972
|
|
|
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.801C>T (p.Asp267=)
|
|
|
|
NM_054012.4(ASS1):c.804C>T (p.Ile268=)
|
rs773540764
|
|
|
NM_054012.4(ASS1):c.807G>T (p.Val269=)
|
rs1371433843
|
|
|
NM_054012.4(ASS1):c.812dup (p.Asn271fs)
|
rs759483921
|
|
|
NM_054012.4(ASS1):c.813C>T (p.Asn271=)
|
rs1361123853
|
|
|
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.815G>T (p.Arg272Leu)
|
|
|
|
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)
|
rs1554723625
|
|
|
NM_054012.4(ASS1):c.827T>C (p.Met276Thr)
|
rs1365759588
|
|
|
NM_054012.4(ASS1):c.827_838+25del
|
|
|
|
NM_054012.4(ASS1):c.830A>G (p.Lys277Arg)
|
rs1846142065
|
|
|
NM_054012.4(ASS1):c.830_831del (p.Lys277fs)
|
rs2118841816
|
|
|
NM_054012.4(ASS1):c.831G>C (p.Lys277Asn)
|
rs2118841820
|
|
|
NM_054012.4(ASS1):c.832del (p.Ser278fs)
|
rs1846142146
|
|
|
NM_054012.4(ASS1):c.838+12C>A
|
|
|
|
NM_054012.4(ASS1):c.838+12C>T
|
|
|
|
NM_054012.4(ASS1):c.838+14G>A
|
|
|
|
NM_054012.4(ASS1):c.838+15C>A
|
|
|
|
NM_054012.4(ASS1):c.838+16C>T
|
|
|
|
NM_054012.4(ASS1):c.838+19C>T
|
|
|
|
NM_054012.4(ASS1):c.838+23_838+34del
|
|
|
|
NM_054012.4(ASS1):c.838+38=
|
|
|
|
NM_054012.4(ASS1):c.839-19T>C
|
|
|
|
NM_054012.4(ASS1):c.839-1G>A
|
|
|
|
NM_054012.4(ASS1):c.839-2A>T
|
rs2118864015
|
|
|
NM_054012.4(ASS1):c.839-6G>A
|
rs766187530
|
|
|
NM_054012.4(ASS1):c.839-7T>C
|
|
|
|
NM_054012.4(ASS1):c.839G>T (p.Gly280Val)
|
rs754062242
|
|
|
NM_054012.4(ASS1):c.840T>C (p.Gly280=)
|
rs1588503529
|
|
|
NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)
|
|
|
|
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)
|
rs549085827
|
|
|
NM_054012.4(ASS1):c.846C>T (p.Tyr282=)
|
rs549085827
|
|
|
NM_054012.4(ASS1):c.848del (p.Glu283fs)
|
|
|
|
NM_054012.4(ASS1):c.853C>T (p.Pro285Ser)
|
|
|
|
NM_054012.4(ASS1):c.867C>T (p.Ile289=)
|
rs2118864084
|
|
|
NM_054012.4(ASS1):c.86A>G (p.Tyr29Cys)
|
rs1457270102
|
|
|
NM_054012.4(ASS1):c.871T>C (p.Tyr291His)
|
|
|
|
NM_054012.4(ASS1):c.882T>C (p.His294=)
|
|
|
|
NM_054012.4(ASS1):c.891C>A (p.Ile297=)
|
|
|
|
NM_054012.4(ASS1):c.894G>A (p.Glu298=)
|
|
|
|
NM_054012.4(ASS1):c.895_896delinsTT (p.Ala299Phe)
|
|
|
|
NM_054012.4(ASS1):c.896C>A (p.Ala299Asp)
|
|
|
|
NM_054012.4(ASS1):c.897C>T (p.Ala299=)
|
|
|
|
NM_054012.4(ASS1):c.8G>A (p.Ser3Asn)
|
rs1845344324
|
|
|
NM_054012.4(ASS1):c.904A>G (p.Met302Val)
|
rs1846391609
|
|
|
NM_054012.4(ASS1):c.907del (p.Asp303fs)
|
|
|
|
NM_054012.4(ASS1):c.914A>T (p.Glu305Val)
|
rs398123132
|
|
|
NM_054012.4(ASS1):c.918G>A (p.Val306=)
|
rs773089581
|
|
|
NM_054012.4(ASS1):c.919C>A (p.Arg307Ser)
|
rs183276875
|
|
|
NM_054012.4(ASS1):c.931C>G (p.Gln311Glu)
|
|
|
|
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)
|
rs1301613270
|
|
|
NM_054012.4(ASS1):c.939G>C (p.Leu313=)
|
rs2118864322
|
|
|
NM_054012.4(ASS1):c.942C>G (p.Gly314=)
|
|
|
|
NM_054012.4(ASS1):c.944T>A (p.Leu315Ter)
|
rs2118864334
|
|
|
NM_054012.4(ASS1):c.951del (p.Phe317fs)
|
rs775791516
|
|
|
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys)
|
rs1588503732
|
|
|
NM_054012.4(ASS1):c.958C>T (p.Leu320=)
|
rs2118864362
|
|
|
NM_054012.4(ASS1):c.95_105+4del
|
|
|
|
NM_054012.4(ASS1):c.961G>A (p.Val321Met)
|
rs727503813
|
|
|
NM_054012.4(ASS1):c.970+11C>T
|
|
|
|
NM_054012.4(ASS1):c.970+12T>A
|
rs886063532
|
|
|
NM_054012.4(ASS1):c.970+16T>C
|
|
|
|
NM_054012.4(ASS1):c.970+1G>A
|
rs1396766124
|
|
|
NM_054012.4(ASS1):c.971-11C>T
|
|
|
|
NM_054012.4(ASS1):c.971-1G>A
|
rs1554725033
|
|
|
NM_054012.4(ASS1):c.971-6C>A
|
rs1238011342
|
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
|
NM_054012.4(ASS1):c.978del (p.Trp326fs)
|
rs1057516338
|
|
|
NM_054012.4(ASS1):c.981C>T (p.His327=)
|
|
|
|
NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)
|
|
|
|
NM_054012.4(ASS1):c.984C>T (p.Ser328=)
|
rs1213934431
|
|
|
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg)
|
rs1055308437
|
|
|
NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)
|
|
|