ClinVar Miner

List of variants in gene SETBP1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1527
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_015559.3(SETBP1):c.487-49605A>G rs6507583 0.15284
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_015559.3(SETBP1):c.540+57G>A rs647155 0.03982
NM_015559.3(SETBP1):c.4171+113C>T rs79988264 0.02173
NM_015559.3(SETBP1):c.-172-195G>A rs73952917 0.01830
NM_015559.3(SETBP1):c.-172-130del rs200931857 0.01363
NM_015559.3(SETBP1):c.4001-278G>A rs112595207 0.01226
NM_015559.3(SETBP1):c.540+7656G>A rs76154044 0.00954
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_015559.3(SETBP1):c.4131G>A (p.Val1377=) rs35460875 0.00887
NM_015559.3(SETBP1):c.4171+136G>A rs79305193 0.00725
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_015559.3(SETBP1):c.-248G>T rs563748893 0.00683
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261 0.00602
NM_015559.3(SETBP1):c.4001-241C>T rs139599860 0.00599
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_015559.3(SETBP1):c.540+25A>C rs58524154 0.00321
NM_015559.3(SETBP1):c.486+330A>G rs192917914 0.00274
NM_015559.3(SETBP1):c.1248T>C (p.His416=) rs144249054 0.00254
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918 0.00192
NM_015559.3(SETBP1):c.4368T>C (p.Arg1456=) rs149745878 0.00185
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_015559.3(SETBP1):c.4172-131C>T rs192917546 0.00153
NM_015559.3(SETBP1):c.1880G>A (p.Arg627His) rs138819848 0.00135
NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=) rs150875847 0.00122
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00107
NM_015559.3(SETBP1):c.4290G>A (p.Val1430=) rs139896661 0.00092
NM_015559.3(SETBP1):c.-164C>G rs145284354 0.00083
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=) rs145996171 0.00073
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824 0.00067
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala) rs141108624 0.00055
NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser) rs142834327 0.00055
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 0.00045
NM_015559.3(SETBP1):c.4728A>G (p.Glu1576=) rs372933465 0.00044
NM_015559.3(SETBP1):c.1581T>G (p.Ala527=) rs150136756 0.00036
NM_015559.3(SETBP1):c.2934C>T (p.His978=) rs145566816 0.00029
NM_015559.3(SETBP1):c.141G>A (p.Gly47=) rs146868426 0.00025
NM_015559.3(SETBP1):c.2592G>A (p.Thr864=) rs372383442 0.00025
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395 0.00023
NM_015559.3(SETBP1):c.4156G>A (p.Ala1386Thr) rs200286369 0.00023
NM_015559.3(SETBP1):c.540+7239T>G rs543866293 0.00023
NM_015559.3(SETBP1):c.575A>G (p.His192Arg) rs569466922 0.00023
NM_015559.3(SETBP1):c.1150A>G (p.Arg384Gly) rs569547381 0.00020
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_015559.3(SETBP1):c.969G>A (p.Lys323=) rs138913968 0.00020
NM_015559.3(SETBP1):c.1204A>G (p.Ile402Val) rs775695755 0.00019
NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile) rs370618204 0.00019
NM_015559.3(SETBP1):c.2310G>A (p.Ala770=) rs373845529 0.00019
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val) rs373986368 0.00019
NM_015559.3(SETBP1):c.85G>A (p.Ala29Thr) rs772172102 0.00019
NM_015559.3(SETBP1):c.45C>T (p.Gly15=) rs764935706 0.00018
NM_015559.3(SETBP1):c.4305G>A (p.Lys1435=) rs368871445 0.00017
NM_015559.3(SETBP1):c.684C>T (p.Ser228=) rs149073567 0.00017
NM_015559.3(SETBP1):c.2721C>T (p.Ser907=) rs148632511 0.00016
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381 0.00016
NM_015559.3(SETBP1):c.768C>T (p.Pro256=) rs141858699 0.00016
NM_015559.3(SETBP1):c.2706G>A (p.Pro902=) rs113916801 0.00015
NM_015559.3(SETBP1):c.3234G>A (p.Thr1078=) rs150396512 0.00015
NM_015559.3(SETBP1):c.412G>T (p.Asp138Tyr) rs144184206 0.00014
NM_015559.3(SETBP1):c.607G>A (p.Gly203Ser) rs771044406 0.00014
NM_015559.3(SETBP1):c.927C>T (p.Asn309=) rs199603131 0.00013
NM_015559.3(SETBP1):c.1159G>A (p.Val387Met) rs368829088 0.00012
NM_015559.3(SETBP1):c.3009G>A (p.Pro1003=) rs142295785 0.00012
NM_015559.3(SETBP1):c.3891G>A (p.Gly1297=) rs141788618 0.00012
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_015559.3(SETBP1):c.769G>A (p.Val257Met) rs144967125 0.00012
NM_015559.3(SETBP1):c.153C>T (p.Gly51=) rs372870881 0.00011
NM_015559.3(SETBP1):c.2607C>T (p.Ser869=) rs74499808 0.00011
NM_015559.3(SETBP1):c.3956T>C (p.Met1319Thr) rs372615623 0.00011
NM_015559.3(SETBP1):c.541-10C>T rs199948979 0.00011
NM_015559.3(SETBP1):c.2346G>T (p.Gln782His) rs752914327 0.00010
NM_015559.3(SETBP1):c.2717C>T (p.Pro906Leu) rs144966931 0.00010
NM_015559.3(SETBP1):c.987T>C (p.Pro329=) rs371212525 0.00010
NM_015559.3(SETBP1):c.2267C>T (p.Pro756Leu) rs200368452 0.00009
NM_015559.3(SETBP1):c.2500C>T (p.Leu834=) rs368785192 0.00009
NM_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu) rs200960707 0.00009
NM_015559.3(SETBP1):c.3779C>T (p.Thr1260Met) rs146524875 0.00009
NM_015559.3(SETBP1):c.4599G>A (p.Pro1533=) rs1307968951 0.00009
NM_015559.3(SETBP1):c.1200C>G (p.Val400=) rs372407089 0.00008
NM_015559.3(SETBP1):c.1493G>A (p.Arg498Gln) rs563237293 0.00008
NM_015559.3(SETBP1):c.1506G>T (p.Met502Ile) rs140838391 0.00008
NM_015559.3(SETBP1):c.3233C>T (p.Thr1078Met) rs375939479 0.00008
NM_015559.3(SETBP1):c.3481G>C (p.Asp1161His) rs199578000 0.00008
NM_015559.3(SETBP1):c.3603T>C (p.Ser1201=) rs776842293 0.00008
NM_015559.3(SETBP1):c.3876C>G (p.Asp1292Glu) rs139106261 0.00008
NM_015559.3(SETBP1):c.4161G>A (p.Thr1387=) rs767680563 0.00008
NM_015559.3(SETBP1):c.4628C>G (p.Pro1543Arg) rs765816380 0.00008
NM_015559.3(SETBP1):c.1656T>C (p.Asp552=) rs145656108 0.00007
NM_015559.3(SETBP1):c.1877G>A (p.Arg626Gln) rs369475378 0.00007
NM_015559.3(SETBP1):c.2384C>G (p.Thr795Ser) rs148108984 0.00007
NM_015559.3(SETBP1):c.3562G>A (p.Glu1188Lys) rs763274923 0.00007
NM_015559.3(SETBP1):c.4083G>A (p.Arg1361=) rs201600296 0.00007
NM_015559.3(SETBP1):c.433G>A (p.Gly145Arg) rs761413772 0.00007
NM_015559.3(SETBP1):c.487-1G>A rs147805077 0.00007
NM_015559.3(SETBP1):c.1119C>T (p.Ser373=) rs773249152 0.00006
NM_015559.3(SETBP1):c.1387C>T (p.Arg463Cys) rs201930325 0.00006
NM_015559.3(SETBP1):c.1631G>A (p.Arg544Gln) rs201672132 0.00006
NM_015559.3(SETBP1):c.1828G>A (p.Val610Ile) rs200927313 0.00006
NM_015559.3(SETBP1):c.1890G>A (p.Ala630=) rs756278146 0.00006
NM_015559.3(SETBP1):c.1969G>A (p.Val657Met) rs554003194 0.00006
NM_015559.3(SETBP1):c.2646G>A (p.Ala882=) rs779476443 0.00006
NM_015559.3(SETBP1):c.3598G>C (p.Val1200Leu) rs143448706 0.00006
NM_015559.3(SETBP1):c.3615G>A (p.Lys1205=) rs150509004 0.00006
NM_015559.3(SETBP1):c.3711C>T (p.Ser1237=) rs139317870 0.00006
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg) rs201474295 0.00006
NM_015559.3(SETBP1):c.3819G>A (p.Thr1273=) rs764859310 0.00006
NM_015559.3(SETBP1):c.3834G>C (p.Leu1278=) rs560028623 0.00006
NM_015559.3(SETBP1):c.4073T>C (p.Met1358Thr) rs569465675 0.00006
NM_015559.3(SETBP1):c.4096G>A (p.Ala1366Thr) rs145549368 0.00006
NM_015559.3(SETBP1):c.4171+11T>G rs777046876 0.00006
NM_015559.3(SETBP1):c.4204C>T (p.Arg1402Trp) rs761262114 0.00006
NM_015559.3(SETBP1):c.4680C>T (p.Pro1560=) rs201428338 0.00006
NM_015559.3(SETBP1):c.541-8A>G rs748086291 0.00006
NM_015559.3(SETBP1):c.615C>A (p.Thr205=) rs138039719 0.00006
NM_015559.3(SETBP1):c.1059T>C (p.Asp353=) rs529964853 0.00005
NM_015559.3(SETBP1):c.1202G>A (p.Arg401Gln) rs144407969 0.00005
NM_015559.3(SETBP1):c.2824C>T (p.Arg942Trp) rs752264940 0.00005
NM_015559.3(SETBP1):c.3023G>A (p.Arg1008His) rs760902522 0.00005
NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=) rs377760121 0.00005
NM_015559.3(SETBP1):c.3780G>A (p.Thr1260=) rs573095863 0.00005
NM_015559.3(SETBP1):c.4171+14A>G rs376939846 0.00005
NM_015559.3(SETBP1):c.4581G>A (p.Pro1527=) rs1291234052 0.00005
NM_015559.3(SETBP1):c.1125T>C (p.Asp375=) rs1308385846 0.00004
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380 0.00004
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895 0.00004
NM_015559.3(SETBP1):c.171A>G (p.Pro57=) rs148596984 0.00004
NM_015559.3(SETBP1):c.222C>T (p.Asn74=) rs151108179 0.00004
NM_015559.3(SETBP1):c.243G>A (p.Val81=) rs762540508 0.00004
NM_015559.3(SETBP1):c.2571C>T (p.Ser857=) rs763175959 0.00004
NM_015559.3(SETBP1):c.2703C>T (p.Asn901=) rs147524056 0.00004
NM_015559.3(SETBP1):c.2753G>A (p.Arg918Gln) rs781033681 0.00004
NM_015559.3(SETBP1):c.2873A>G (p.Glu958Gly) rs748289164 0.00004
NM_015559.3(SETBP1):c.2985G>A (p.Pro995=) rs369597949 0.00004
NM_015559.3(SETBP1):c.3645C>T (p.Ser1215=) rs200219791 0.00004
NM_015559.3(SETBP1):c.3652G>A (p.Gly1218Ser) rs1193855934 0.00004
NM_015559.3(SETBP1):c.3714C>T (p.Asp1238=) rs762207505 0.00004
NM_015559.3(SETBP1):c.3801C>T (p.Gly1267=) rs779157777 0.00004
NM_015559.3(SETBP1):c.3948C>T (p.Ala1316=) rs775108970 0.00004
NM_015559.3(SETBP1):c.4046G>C (p.Ser1349Thr) rs1178340807 0.00004
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met) rs200881888 0.00004
NM_015559.3(SETBP1):c.4588C>T (p.Leu1530=) rs1277740516 0.00004
NM_015559.3(SETBP1):c.507T>C (p.Leu169=) rs201939233 0.00004
NM_015559.3(SETBP1):c.571C>T (p.Leu191Phe) rs146994409 0.00004
NM_015559.3(SETBP1):c.839A>G (p.Asn280Ser) rs760239764 0.00004
NM_015559.3(SETBP1):c.991G>T (p.Val331Leu) rs762630306 0.00004
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_015559.3(SETBP1):c.1087G>T (p.Asp363Tyr) rs201685079 0.00003
NM_015559.3(SETBP1):c.1120G>A (p.Ala374Thr) rs372096992 0.00003
NM_015559.3(SETBP1):c.1133A>G (p.Gln378Arg) rs765366351 0.00003
NM_015559.3(SETBP1):c.1228T>C (p.Ser410Pro) rs750762528 0.00003
NM_015559.3(SETBP1):c.1354C>T (p.Leu452Phe) rs576758055 0.00003
NM_015559.3(SETBP1):c.1388G>A (p.Arg463His) rs781159539 0.00003
NM_015559.3(SETBP1):c.148G>A (p.Val50Met) rs368634398 0.00003
NM_015559.3(SETBP1):c.200G>A (p.Arg67Gln) rs778196366 0.00003
NM_015559.3(SETBP1):c.2217C>T (p.Ser739=) rs755235074 0.00003
NM_015559.3(SETBP1):c.2523C>T (p.His841=) rs778715014 0.00003
NM_015559.3(SETBP1):c.3400C>A (p.Pro1134Thr) rs780869551 0.00003
NM_015559.3(SETBP1):c.3577G>A (p.Ala1193Thr) rs534963356 0.00003
NM_015559.3(SETBP1):c.3588G>A (p.Glu1196=) rs779614926 0.00003
NM_015559.3(SETBP1):c.3594G>A (p.Pro1198=) rs200032059 0.00003
NM_015559.3(SETBP1):c.3882C>T (p.Asp1294=) rs762673953 0.00003
NM_015559.3(SETBP1):c.3984C>T (p.Asp1328=) rs199931480 0.00003
NM_015559.3(SETBP1):c.4010G>C (p.Ser1337Thr) rs529611461 0.00003
NM_015559.3(SETBP1):c.4031A>G (p.Gln1344Arg) rs747647882 0.00003
NM_015559.3(SETBP1):c.583A>C (p.Thr195Pro) rs750150119 0.00003
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met) rs755852977 0.00003
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu) rs758194735 0.00003
NM_015559.3(SETBP1):c.989C>T (p.Thr330Met) rs772612180 0.00003
NM_015559.3(SETBP1):c.1038C>T (p.Thr346=) rs367985500 0.00002
NM_015559.3(SETBP1):c.1137G>A (p.Glu379=) rs752828285 0.00002
NM_015559.3(SETBP1):c.1141T>G (p.Ser381Ala) rs1273193718 0.00002
NM_015559.3(SETBP1):c.1201C>T (p.Arg401Trp) rs200966921 0.00002
NM_015559.3(SETBP1):c.1247A>G (p.His416Arg) rs1374708499 0.00002
NM_015559.3(SETBP1):c.1552C>T (p.Leu518=) rs756912768 0.00002
NM_015559.3(SETBP1):c.1666C>G (p.Leu556Val) rs773986475 0.00002
NM_015559.3(SETBP1):c.1747G>A (p.Val583Ile) rs1000055196 0.00002
NM_015559.3(SETBP1):c.1874G>A (p.Arg625Gln) rs537693683 0.00002
NM_015559.3(SETBP1):c.1911G>A (p.Pro637=) rs748627545 0.00002
NM_015559.3(SETBP1):c.1916A>G (p.Glu639Gly) rs187990800 0.00002
NM_015559.3(SETBP1):c.1933G>A (p.Glu645Lys) rs770454352 0.00002
NM_015559.3(SETBP1):c.1965C>T (p.Leu655=) rs372765743 0.00002
NM_015559.3(SETBP1):c.2117A>G (p.Glu706Gly) rs530739140 0.00002
NM_015559.3(SETBP1):c.2601C>T (p.Ser867=) rs376371660 0.00002
NM_015559.3(SETBP1):c.2616G>C (p.Gly872=) rs951628590 0.00002
NM_015559.3(SETBP1):c.2709G>A (p.Glu903=) rs767829324 0.00002
NM_015559.3(SETBP1):c.2782C>A (p.Leu928Met) rs773555071 0.00002
NM_015559.3(SETBP1):c.2790C>T (p.His930=) rs761097402 0.00002
NM_015559.3(SETBP1):c.2843G>A (p.Arg948His) rs757169484 0.00002
NM_015559.3(SETBP1):c.2953A>G (p.Ile985Val) rs377267329 0.00002
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys) rs767260608 0.00002
NM_015559.3(SETBP1):c.3228G>A (p.Ser1076=) rs539686339 0.00002
NM_015559.3(SETBP1):c.3860C>T (p.Ser1287Leu) rs771332971 0.00002
NM_015559.3(SETBP1):c.3861G>A (p.Ser1287=) rs749024227 0.00002
NM_015559.3(SETBP1):c.4049A>C (p.Lys1350Thr) rs776436196 0.00002
NM_015559.3(SETBP1):c.4095C>T (p.Ala1365=) rs750605713 0.00002
NM_015559.3(SETBP1):c.4187A>T (p.Lys1396Met) rs771262356 0.00002
NM_015559.3(SETBP1):c.4194G>A (p.Arg1398=) rs765472462 0.00002
NM_015559.3(SETBP1):c.4619C>T (p.Pro1540Leu) rs1037280105 0.00002
NM_015559.3(SETBP1):c.4632A>G (p.Leu1544=) rs1398639012 0.00002
NM_015559.3(SETBP1):c.486+20G>T rs755503153 0.00002
NM_015559.3(SETBP1):c.535C>T (p.Pro179Ser) rs750699121 0.00002
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) rs761385178 0.00002
NM_015559.3(SETBP1):c.757G>A (p.Ala253Thr) rs149472556 0.00002
NM_015559.3(SETBP1):c.794G>A (p.Gly265Asp) rs777748383 0.00002
NM_015559.3(SETBP1):c.*2G>A rs550183743 0.00001
NM_015559.3(SETBP1):c.102A>C (p.Ala34=) rs572249525 0.00001
NM_015559.3(SETBP1):c.1048C>T (p.Pro350Ser) rs142034944 0.00001
NM_015559.3(SETBP1):c.1051G>T (p.Asp351Tyr) rs370610721 0.00001
NM_015559.3(SETBP1):c.1083A>G (p.Ala361=) rs373675944 0.00001
NM_015559.3(SETBP1):c.110C>T (p.Pro37Leu) rs747388683 0.00001
NM_015559.3(SETBP1):c.1196A>G (p.His399Arg) rs774121711 0.00001
NM_015559.3(SETBP1):c.1222G>T (p.Ala408Ser) rs1468549146 0.00001
NM_015559.3(SETBP1):c.1263A>G (p.Arg421=) rs886053792 0.00001
NM_015559.3(SETBP1):c.1360A>G (p.Asn454Asp) rs754292247 0.00001
NM_015559.3(SETBP1):c.1382A>G (p.Asp461Gly) rs777352992 0.00001
NM_015559.3(SETBP1):c.144C>G (p.Ile48Met) rs371516078 0.00001
NM_015559.3(SETBP1):c.1458T>C (p.Ala486=) rs759977316 0.00001
NM_015559.3(SETBP1):c.146C>T (p.Pro49Leu) rs764706604 0.00001
NM_015559.3(SETBP1):c.1480G>C (p.Val494Leu) rs756327147 0.00001
NM_015559.3(SETBP1):c.1512G>T (p.Met504Ile) rs1387689736 0.00001
NM_015559.3(SETBP1):c.1569T>C (p.His523=) rs750243876 0.00001
NM_015559.3(SETBP1):c.1641T>C (p.Val547=) rs538774500 0.00001
NM_015559.3(SETBP1):c.1645G>A (p.Ala549Thr) rs746220134 0.00001
NM_015559.3(SETBP1):c.165G>A (p.Met55Ile) rs778818507 0.00001
NM_015559.3(SETBP1):c.1700C>T (p.Ser567Phe) rs966735327 0.00001
NM_015559.3(SETBP1):c.1734T>C (p.Thr578=) rs751607124 0.00001
NM_015559.3(SETBP1):c.1812A>T (p.Gly604=) rs1407155473 0.00001
NM_015559.3(SETBP1):c.1901A>G (p.Gln634Arg) rs779446118 0.00001
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu) rs1011541536 0.00001
NM_015559.3(SETBP1):c.1942T>C (p.Phe648Leu) rs1644949519 0.00001
NM_015559.3(SETBP1):c.1963C>T (p.Leu655Phe) rs764969329 0.00001
NM_015559.3(SETBP1):c.204T>C (p.Asp68=) rs747370385 0.00001
NM_015559.3(SETBP1):c.2061C>T (p.Ser687=) rs770426100 0.00001
NM_015559.3(SETBP1):c.2148C>T (p.Ser716=) rs762804357 0.00001
NM_015559.3(SETBP1):c.2210C>T (p.Pro737Leu) rs753974276 0.00001
NM_015559.3(SETBP1):c.2212C>T (p.Pro738Ser) rs1160869968 0.00001
NM_015559.3(SETBP1):c.2237T>C (p.Ile746Thr) rs1408233128 0.00001
NM_015559.3(SETBP1):c.225G>A (p.Ala75=) rs111324550 0.00001
NM_015559.3(SETBP1):c.2268G>A (p.Pro756=) rs745442615 0.00001
NM_015559.3(SETBP1):c.2281G>A (p.Val761Met) rs745506540 0.00001
NM_015559.3(SETBP1):c.2315C>T (p.Ser772Leu) rs775018095 0.00001
NM_015559.3(SETBP1):c.2341A>G (p.Thr781Ala) rs1382075763 0.00001
NM_015559.3(SETBP1):c.2529C>T (p.Cys843=) rs199582335 0.00001
NM_015559.3(SETBP1):c.2586G>A (p.Glu862=) rs764279797 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015559.3(SETBP1):c.2645C>T (p.Ala882Val) rs756648583 0.00001
NM_015559.3(SETBP1):c.2666G>A (p.Arg889Gln) rs778467154 0.00001
NM_015559.3(SETBP1):c.2673G>A (p.Arg891=) rs777737690 0.00001
NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln) rs777653524 0.00001
NM_015559.3(SETBP1):c.2791G>A (p.Glu931Lys) rs369406638 0.00001
NM_015559.3(SETBP1):c.2799C>A (p.Leu933=) rs942684274 0.00001
NM_015559.3(SETBP1):c.2814C>T (p.His938=) rs764582025 0.00001
NM_015559.3(SETBP1):c.2842C>T (p.Arg948Cys) rs751366974 0.00001
NM_015559.3(SETBP1):c.2845G>A (p.Asp949Asn) rs781065090 0.00001
NM_015559.3(SETBP1):c.2864C>A (p.Ala955Glu) rs570984485 0.00001
NM_015559.3(SETBP1):c.2874G>A (p.Glu958=) rs373201270 0.00001
NM_015559.3(SETBP1):c.288A>G (p.Ala96=) rs368521359 0.00001
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln) rs759901142 0.00001
NM_015559.3(SETBP1):c.2918G>C (p.Ser973Thr) rs140321570 0.00001
NM_015559.3(SETBP1):c.2948C>G (p.Pro983Arg) rs886053794 0.00001
NM_015559.3(SETBP1):c.2961G>T (p.Arg987=) rs755995236 0.00001
NM_015559.3(SETBP1):c.3029C>T (p.Thr1010Ile) rs1243260083 0.00001
NM_015559.3(SETBP1):c.3110G>C (p.Gly1037Ala) rs1230642190 0.00001
NM_015559.3(SETBP1):c.3143A>G (p.Tyr1048Cys) rs977570538 0.00001
NM_015559.3(SETBP1):c.3158T>A (p.Met1053Lys) rs1323234373 0.00001
NM_015559.3(SETBP1):c.3175C>T (p.Pro1059Ser) rs1224731205 0.00001
NM_015559.3(SETBP1):c.31C>T (p.Arg11Trp) rs776221622 0.00001
NM_015559.3(SETBP1):c.3212C>T (p.Ala1071Val) rs1193534370 0.00001
NM_015559.3(SETBP1):c.3219G>T (p.Leu1073Phe) rs766091331 0.00001
NM_015559.3(SETBP1):c.3227C>T (p.Ser1076Leu) rs1449085454 0.00001
NM_015559.3(SETBP1):c.3312C>T (p.Ser1104=) rs746612379 0.00001
NM_015559.3(SETBP1):c.3313G>A (p.Gly1105Ser) rs545808906 0.00001
NM_015559.3(SETBP1):c.3347A>G (p.His1116Arg) rs765137543 0.00001
NM_015559.3(SETBP1):c.3364A>T (p.Ser1122Cys) rs756393375 0.00001
NM_015559.3(SETBP1):c.3367A>C (p.Met1123Leu) rs766776747 0.00001
NM_015559.3(SETBP1):c.3399C>T (p.Asn1133=) rs770539342 0.00001
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro) rs762890510 0.00001
NM_015559.3(SETBP1):c.3442C>T (p.His1148Tyr) rs754068953 0.00001
NM_015559.3(SETBP1):c.3446A>G (p.Lys1149Arg) rs561819039 0.00001
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln) rs751046263 0.00001
NM_015559.3(SETBP1):c.3511A>C (p.Ser1171Arg) rs147540466 0.00001
NM_015559.3(SETBP1):c.3539G>C (p.Gly1180Ala) rs768609937 0.00001
NM_015559.3(SETBP1):c.3632A>G (p.Lys1211Arg) rs144471715 0.00001
NM_015559.3(SETBP1):c.3744A>G (p.Lys1248=) rs759101527 0.00001
NM_015559.3(SETBP1):c.3818C>T (p.Thr1273Met) rs958733748 0.00001
NM_015559.3(SETBP1):c.3822A>T (p.Arg1274Ser) rs1222404358 0.00001
NM_015559.3(SETBP1):c.3838G>A (p.Val1280Met) rs755003311 0.00001
NM_015559.3(SETBP1):c.3867C>T (p.Asp1289=) rs746384838 0.00001
NM_015559.3(SETBP1):c.3923C>T (p.Thr1308Met) rs1006561792 0.00001
NM_015559.3(SETBP1):c.3924G>A (p.Thr1308=) rs138595519 0.00001
NM_015559.3(SETBP1):c.3969G>A (p.Glu1323=) rs766339248 0.00001
NM_015559.3(SETBP1):c.3975T>A (p.Ser1325Arg) rs192800556 0.00001
NM_015559.3(SETBP1):c.4000+6G>A rs982808901 0.00001
NM_015559.3(SETBP1):c.4000+9G>A rs373079858 0.00001
NM_015559.3(SETBP1):c.4001-7T>A rs767918557 0.00001
NM_015559.3(SETBP1):c.4034C>G (p.Thr1345Arg) rs148195272 0.00001
NM_015559.3(SETBP1):c.4054G>A (p.Glu1352Lys) rs146222882 0.00001
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val) rs1486460574 0.00001
NM_015559.3(SETBP1):c.4102G>A (p.Asp1368Asn) rs370218399 0.00001
NM_015559.3(SETBP1):c.4104C>G (p.Asp1368Glu) rs566235193 0.00001
NM_015559.3(SETBP1):c.4155A>C (p.Ala1385=) rs745718445 0.00001
NM_015559.3(SETBP1):c.4163C>T (p.Ser1388Leu) rs1217362969 0.00001
NM_015559.3(SETBP1):c.4164G>A (p.Ser1388=) rs773446890 0.00001
NM_015559.3(SETBP1):c.4171+19C>A rs753108749 0.00001
NM_015559.3(SETBP1):c.4175G>C (p.Gly1392Ala) rs773392085 0.00001
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) rs775975116 0.00001
NM_015559.3(SETBP1):c.4205G>A (p.Arg1402Gln) rs371946489 0.00001
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588 0.00001
NM_015559.3(SETBP1):c.4224G>C (p.Gln1408His) rs1193158632 0.00001
NM_015559.3(SETBP1):c.4227C>T (p.Cys1409=) rs200760583 0.00001
NM_015559.3(SETBP1):c.4247A>G (p.Asn1416Ser) rs1268331067 0.00001
NM_015559.3(SETBP1):c.427C>T (p.Arg143Cys) rs768195901 0.00001
NM_015559.3(SETBP1):c.4344C>T (p.Asn1448=) rs766886842 0.00001
NM_015559.3(SETBP1):c.4357A>G (p.Arg1453Gly) rs1197935007 0.00001
NM_015559.3(SETBP1):c.4464G>A (p.Lys1488=) rs752637901 0.00001
NM_015559.3(SETBP1):c.4465C>T (p.Pro1489Ser) rs528411087 0.00001
NM_015559.3(SETBP1):c.4469G>C (p.Ser1490Thr) rs1193044740 0.00001
NM_015559.3(SETBP1):c.4497C>T (p.Ala1499=) rs769896964 0.00001
NM_015559.3(SETBP1):c.44G>A (p.Gly15Asp) rs551453904 0.00001
NM_015559.3(SETBP1):c.4516A>G (p.Met1506Val) rs1297071856 0.00001
NM_015559.3(SETBP1):c.4527C>T (p.Ile1509=) rs558981385 0.00001
NM_015559.3(SETBP1):c.452C>T (p.Thr151Met) rs548056897 0.00001
NM_015559.3(SETBP1):c.4543A>G (p.Met1515Val) rs1162276367 0.00001
NM_015559.3(SETBP1):c.4642C>G (p.Pro1548Ala) rs1274960889 0.00001
NM_015559.3(SETBP1):c.4673A>T (p.Gln1558Leu) rs764152367 0.00001
NM_015559.3(SETBP1):c.4704C>T (p.Pro1568=) rs1044426142 0.00001
NM_015559.3(SETBP1):c.4724del (p.Gln1575fs) rs746925505 0.00001
NM_015559.3(SETBP1):c.4768A>G (p.Ser1590Gly) rs776334194 0.00001
NM_015559.3(SETBP1):c.482A>G (p.Lys161Arg) rs749843899 0.00001
NM_015559.3(SETBP1):c.487-16C>A rs932082511 0.00001
NM_015559.3(SETBP1):c.493A>G (p.Thr165Ala) rs770804298 0.00001
NM_015559.3(SETBP1):c.540+17C>T rs754206176 0.00001
NM_015559.3(SETBP1):c.546C>T (p.Tyr182=) rs759868813 0.00001
NM_015559.3(SETBP1):c.606C>T (p.Thr202=) rs371436709 0.00001
NM_015559.3(SETBP1):c.636A>G (p.Gln212=) rs1009862226 0.00001
NM_015559.3(SETBP1):c.667T>C (p.Ser223Pro) rs2071299377 0.00001
NM_015559.3(SETBP1):c.673A>G (p.Asn225Asp) rs1189388274 0.00001
NM_015559.3(SETBP1):c.675C>T (p.Asn225=) rs766190985 0.00001
NM_015559.3(SETBP1):c.690C>T (p.Pro230=) rs377615601 0.00001
NM_015559.3(SETBP1):c.698A>G (p.Gln233Arg) rs776263750 0.00001
NM_015559.3(SETBP1):c.756C>T (p.Pro252=) rs762370146 0.00001
NM_015559.3(SETBP1):c.765G>A (p.Glu255=) rs766021423 0.00001
NM_015559.3(SETBP1):c.812G>C (p.Gly271Ala) rs749422908 0.00001
NM_015559.3(SETBP1):c.819G>A (p.Thr273=) rs772700161 0.00001
NM_015559.3(SETBP1):c.858G>A (p.Leu286=) rs1053870553 0.00001
NM_015559.3(SETBP1):c.868G>T (p.Ala290Ser) rs764954143 0.00001
NM_015559.3(SETBP1):c.911G>A (p.Ser304Asn) rs200286635 0.00001
NM_015559.3(SETBP1):c.928G>A (p.Gly310Arg) rs1425063196 0.00001
NM_015559.3(SETBP1):c.946G>A (p.Asp316Asn) rs1321414005 0.00001
NM_015559.3(SETBP1):c.990G>A (p.Thr330=) rs979688368 0.00001
GRCh37/hg19 18q12.3(chr18:42225174-42304325)x1
NC_000018.9:g.(?_42281312)_(42281817_?)dup
NC_000018.9:g.(?_42281312)_(42533325_?)dup
NC_000018.9:g.(?_42281312)_(42643663_?)dup
NC_000018.9:g.(?_42529826)_(42533325_?)del
NC_000018.9:g.(?_42529826)_(42643663_?)dup
NC_000018.9:g.(?_42643024)_(42643663_?)dup
NM_015559.3(SETBP1):c.*2987dup rs34125334
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.100G>T (p.Ala34Ser)
NM_015559.3(SETBP1):c.101C>T (p.Ala34Val)
NM_015559.3(SETBP1):c.1021G>T (p.Asp341Tyr) rs2071312042
NM_015559.3(SETBP1):c.1022A>G (p.Asp341Gly)
NM_015559.3(SETBP1):c.1027A>G (p.Ile343Val)
NM_015559.3(SETBP1):c.1030_1034del (p.Ser344fs)
NM_015559.3(SETBP1):c.1031G>A (p.Ser344Asn)
NM_015559.3(SETBP1):c.1033C>A (p.Gln345Lys)
NM_015559.3(SETBP1):c.1039A>G (p.Ile347Val)
NM_015559.3(SETBP1):c.1047C>T (p.Asn349=) rs2145095285
NM_015559.3(SETBP1):c.1048C>G (p.Pro350Ala) rs142034944
NM_015559.3(SETBP1):c.1057G>C (p.Asp353His)
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val) rs2145095402
NM_015559.3(SETBP1):c.1061G>C (p.Trp354Ser)
NM_015559.3(SETBP1):c.1064T>A (p.Val355Asp)
NM_015559.3(SETBP1):c.1065C>A (p.Val355=)
NM_015559.3(SETBP1):c.1066A>C (p.Lys356Gln)
NM_015559.3(SETBP1):c.1073C>G (p.Ala358Gly)
NM_015559.3(SETBP1):c.1074C>A (p.Ala358=)
NM_015559.3(SETBP1):c.1077G>C (p.Gln359His)
NM_015559.3(SETBP1):c.1081G>T (p.Ala361Ser)
NM_015559.3(SETBP1):c.1093A>G (p.Thr365Ala)
NM_015559.3(SETBP1):c.1099G>A (p.Gly367Arg)
NM_015559.3(SETBP1):c.109C>T (p.Pro37Ser) rs985954731
NM_015559.3(SETBP1):c.10A>G (p.Arg4Gly)
NM_015559.3(SETBP1):c.1102A>G (p.Lys368Glu)
NM_015559.3(SETBP1):c.1106G>A (p.Arg369Lys)
NM_015559.3(SETBP1):c.110C>A (p.Pro37His) rs747388683
NM_015559.3(SETBP1):c.1111G>A (p.Gly371Ser)
NM_015559.3(SETBP1):c.1112G>T (p.Gly371Val) rs774075566
NM_015559.3(SETBP1):c.111T>G (p.Pro37=)
NM_015559.3(SETBP1):c.1128T>C (p.Ser376=)
NM_015559.3(SETBP1):c.1138G>A (p.Ala380Thr) rs751918559
NM_015559.3(SETBP1):c.1139C>T (p.Ala380Val) rs2145095927
NM_015559.3(SETBP1):c.113T>C (p.Leu38Ser)
NM_015559.3(SETBP1):c.1140A>T (p.Ala380=) rs915310727
NM_015559.3(SETBP1):c.1152G>A (p.Arg384=)
NM_015559.3(SETBP1):c.1153C>G (p.Gln385Glu)
NM_015559.3(SETBP1):c.1155G>C (p.Gln385His) rs2145096124
NM_015559.3(SETBP1):c.1158C>G (p.Asn386Lys)
NM_015559.3(SETBP1):c.1159G>C (p.Val387Leu)
NM_015559.3(SETBP1):c.1160_1161insTT (p.Val387_Ser388insTer)
NM_015559.3(SETBP1):c.1168G>T (p.Ala390Ser) rs1388299767
NM_015559.3(SETBP1):c.1172G>A (p.Ser391Asn)
NM_015559.3(SETBP1):c.1173T>C (p.Ser391=)
NM_015559.3(SETBP1):c.117C>T (p.Leu39=) rs2144196326
NM_015559.3(SETBP1):c.1183A>C (p.Asn395His) rs2071318761
NM_015559.3(SETBP1):c.1188C>T (p.Asp396=)
NM_015559.3(SETBP1):c.1192A>G (p.Ser398Gly)
NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile)
NM_015559.3(SETBP1):c.1207A>T (p.Thr403Ser) rs889486174
NM_015559.3(SETBP1):c.1210A>G (p.Ile404Val)
NM_015559.3(SETBP1):c.1215C>T (p.Pro405=)
NM_015559.3(SETBP1):c.1222G>A (p.Ala408Thr)
NM_015559.3(SETBP1):c.1236T>G (p.Asp412Glu)
NM_015559.3(SETBP1):c.1241C>T (p.Thr414Ile) rs2145096578
NM_015559.3(SETBP1):c.1242C>T (p.Thr414=) rs1450088213
NM_015559.3(SETBP1):c.1243A>T (p.Asn415Tyr) rs780597341
NM_015559.3(SETBP1):c.1245C>G (p.Asn415Lys) rs2145096617
NM_015559.3(SETBP1):c.1245C>T (p.Asn415=) rs2145096617
NM_015559.3(SETBP1):c.1251G>C (p.Lys417Asn)
NM_015559.3(SETBP1):c.1252A>G (p.Arg418Gly)
NM_015559.3(SETBP1):c.1256A>G (p.Lys419Arg)
NM_015559.3(SETBP1):c.1264C>T (p.Gln422Ter) rs1555706333
NM_015559.3(SETBP1):c.1266G>A (p.Gln422=)
NM_015559.3(SETBP1):c.1268C>T (p.Ser423Phe)
NM_015559.3(SETBP1):c.1276G>T (p.Ala426Ser)
NM_015559.3(SETBP1):c.1277C>A (p.Ala426Glu) rs187433533
NM_015559.3(SETBP1):c.1277C>T (p.Ala426Val) rs187433533
NM_015559.3(SETBP1):c.1278G>A (p.Ala426=)
NM_015559.3(SETBP1):c.1278G>C (p.Ala426=)
NM_015559.3(SETBP1):c.1280T>C (p.Val427Ala)
NM_015559.3(SETBP1):c.1282G>C (p.Val428Leu)
NM_015559.3(SETBP1):c.1283T>C (p.Val428Ala)
NM_015559.3(SETBP1):c.1286A>G (p.Glu429Gly)
NM_015559.3(SETBP1):c.1295T>C (p.Met432Thr)
NM_015559.3(SETBP1):c.1300G>C (p.Glu434Gln) rs2071322955
NM_015559.3(SETBP1):c.1303A>G (p.Lys435Glu) rs2145097025
NM_015559.3(SETBP1):c.1307C>T (p.Ala436Val)
NM_015559.3(SETBP1):c.1312G>C (p.Ala438Pro)
NM_015559.3(SETBP1):c.1317T>C (p.Ser439=)
NM_015559.3(SETBP1):c.131C>G (p.Pro44Arg) rs2144196383
NM_015559.3(SETBP1):c.1327A>G (p.Met443Val)
NM_015559.3(SETBP1):c.1328T>G (p.Met443Arg)
NM_015559.3(SETBP1):c.1329del (p.Met443fs) rs2145097123
NM_015559.3(SETBP1):c.1331G>A (p.Ser444Asn)
NM_015559.3(SETBP1):c.1331G>C (p.Ser444Thr)
NM_015559.3(SETBP1):c.1341A>G (p.Val447=)
NM_015559.3(SETBP1):c.1348_1362del (p.Arg450_Asn454del)
NM_015559.3(SETBP1):c.134G>C (p.Gly45Ala)
NM_015559.3(SETBP1):c.1350G>T (p.Arg450Ser)
NM_015559.3(SETBP1):c.135G>A (p.Gly45=)
NM_015559.3(SETBP1):c.1361A>G (p.Asn454Ser)
NM_015559.3(SETBP1):c.1366G>A (p.Glu456Lys) rs2145097367
NM_015559.3(SETBP1):c.1367A>C (p.Glu456Ala)
NM_015559.3(SETBP1):c.1369G>A (p.Gly457Arg)
NM_015559.3(SETBP1):c.1379A>G (p.Lys460Arg)
NM_015559.3(SETBP1):c.1385C>T (p.Pro462Leu)
NM_015559.3(SETBP1):c.1399T>A (p.Leu467Met)
NM_015559.3(SETBP1):c.1401G>A (p.Leu467=)
NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer) rs1555706391
NM_015559.3(SETBP1):c.1409T>C (p.Met470Thr)
NM_015559.3(SETBP1):c.1410G>A (p.Met470Ile)
NM_015559.3(SETBP1):c.1416G>A (p.Glu472=)
NM_015559.3(SETBP1):c.141G>T (p.Gly47=) rs146868426
NM_015559.3(SETBP1):c.1424C>A (p.Ser475Tyr) rs1490796232
NM_015559.3(SETBP1):c.1426C>A (p.Pro476Thr)
NM_015559.3(SETBP1):c.1427C>T (p.Pro476Leu)
NM_015559.3(SETBP1):c.1428C>G (p.Pro476=) rs761007347
NM_015559.3(SETBP1):c.1432G>A (p.Val478Ile)
NM_015559.3(SETBP1):c.1447G>T (p.Gly483Cys)
NM_015559.3(SETBP1):c.144C>T (p.Ile48=)
NM_015559.3(SETBP1):c.1456G>A (p.Ala486Thr) rs1762640368
NM_015559.3(SETBP1):c.1459del (p.Glu487fs)
NM_015559.3(SETBP1):c.145C>T (p.Pro49Ser)
NM_015559.3(SETBP1):c.1461G>A (p.Glu487=)
NM_015559.3(SETBP1):c.1464A>C (p.Lys488Asn) rs1484457595
NM_015559.3(SETBP1):c.1471C>T (p.Pro491Ser)
NM_015559.3(SETBP1):c.1478G>T (p.Gly493Val)
NM_015559.3(SETBP1):c.147G>A (p.Pro49=)
NM_015559.3(SETBP1):c.1480G>A (p.Val494Met)
NM_015559.3(SETBP1):c.1481T>C (p.Val494Ala)
NM_015559.3(SETBP1):c.1492C>G (p.Arg498Gly) rs548105094
NM_015559.3(SETBP1):c.1492C>T (p.Arg498Trp) rs548105094
NM_015559.3(SETBP1):c.1493G>T (p.Arg498Leu)
NM_015559.3(SETBP1):c.1498C>T (p.Pro500Ser)
NM_015559.3(SETBP1):c.1499C>T (p.Pro500Leu)
NM_015559.3(SETBP1):c.1503C>A (p.Pro501=)
NM_015559.3(SETBP1):c.1504A>G (p.Met502Val)
NM_015559.3(SETBP1):c.1506G>C (p.Met502Ile)
NM_015559.3(SETBP1):c.1514C>G (p.Thr505Arg)
NM_015559.3(SETBP1):c.1516C>A (p.Pro506Thr)
NM_015559.3(SETBP1):c.1516C>G (p.Pro506Ala)
NM_015559.3(SETBP1):c.1523C>T (p.Thr508Met) rs776966017
NM_015559.3(SETBP1):c.1524G>A (p.Thr508=)
NM_015559.3(SETBP1):c.1524G>C (p.Thr508=) rs929753972
NM_015559.3(SETBP1):c.1526G>A (p.Cys509Tyr)
NM_015559.3(SETBP1):c.1532A>G (p.Asp511Gly)
NM_015559.3(SETBP1):c.1532A>T (p.Asp511Val)
NM_015559.3(SETBP1):c.1535A>G (p.His512Arg)
NM_015559.3(SETBP1):c.1536C>T (p.His512=)
NM_015559.3(SETBP1):c.1537T>C (p.Ser513Pro)
NM_015559.3(SETBP1):c.1543T>C (p.Ser515Pro)
NM_015559.3(SETBP1):c.1546A>G (p.Arg516Gly)
NM_015559.3(SETBP1):c.154G>A (p.Gly52Arg)
NM_015559.3(SETBP1):c.1553T>C (p.Leu518Pro)
NM_015559.3(SETBP1):c.1554G>T (p.Leu518=)
NM_015559.3(SETBP1):c.1556C>T (p.Pro519Leu)
NM_015559.3(SETBP1):c.155G>A (p.Gly52Glu)
NM_015559.3(SETBP1):c.1565A>G (p.Gln522Arg)
NM_015559.3(SETBP1):c.1568A>C (p.His523Pro)
NM_015559.3(SETBP1):c.1568del (p.His523fs) rs886041469
NM_015559.3(SETBP1):c.1575A>C (p.Lys525Asn) rs2145099052
NM_015559.3(SETBP1):c.1578T>A (p.Phe526Leu)
NM_015559.3(SETBP1):c.1582G>A (p.Ala528Thr)
NM_015559.3(SETBP1):c.1588C>G (p.Arg530Gly)
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)
NM_015559.3(SETBP1):c.1589G>A (p.Arg530Gln)
NM_015559.3(SETBP1):c.1598C>T (p.Thr533Ile) rs2145099229
NM_015559.3(SETBP1):c.159_160delinsTT (p.Glu53_Arg54delinsAspCys)
NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys) rs1325528399
NM_015559.3(SETBP1):c.1610C>A (p.Pro537Gln) rs893030950
NM_015559.3(SETBP1):c.1616C>T (p.Pro539Leu)
NM_015559.3(SETBP1):c.1617T>A (p.Pro539=) rs1599366796
NM_015559.3(SETBP1):c.161G>A (p.Arg54His) rs140717709
NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu) rs140717709
NM_015559.3(SETBP1):c.1624A>C (p.Met542Leu)
NM_015559.3(SETBP1):c.1625T>C (p.Met542Thr)
NM_015559.3(SETBP1):c.1626G>A (p.Met542Ile) rs971847805
NM_015559.3(SETBP1):c.1626G>T (p.Met542Ile) rs971847805
NM_015559.3(SETBP1):c.1630C>T (p.Arg544Ter) rs1568234874
NM_015559.3(SETBP1):c.1631G>C (p.Arg544Pro) rs201672132
NM_015559.3(SETBP1):c.1632A>T (p.Arg544=)
NM_015559.3(SETBP1):c.1633G>T (p.Glu545Ter) rs1555706476
NM_015559.3(SETBP1):c.1634A>T (p.Glu545Val)
NM_015559.3(SETBP1):c.1637C>A (p.Ala546Glu)
NM_015559.3(SETBP1):c.163A>G (p.Met55Val)
NM_015559.3(SETBP1):c.1649C>T (p.Thr550Ile)
NM_015559.3(SETBP1):c.1652C>T (p.Ser551Phe)
NM_015559.3(SETBP1):c.1654G>A (p.Asp552Asn)
NM_015559.3(SETBP1):c.1661del (p.Leu554fs) rs1555706499
NM_015559.3(SETBP1):c.1667T>C (p.Leu556Pro)
NM_015559.3(SETBP1):c.1671G>A (p.Glu557=)
NM_015559.3(SETBP1):c.1671G>C (p.Glu557Asp)
NM_015559.3(SETBP1):c.1671G>T (p.Glu557Asp)
NM_015559.3(SETBP1):c.1674C>T (p.Pro558=)
NM_015559.3(SETBP1):c.1676C>G (p.Pro559Arg)
NM_015559.3(SETBP1):c.1676C>T (p.Pro559Leu)
NM_015559.3(SETBP1):c.1676del (p.Pro559fs) rs1064796181
NM_015559.3(SETBP1):c.1677G>A (p.Pro559=) rs201699775
NM_015559.3(SETBP1):c.1684del (p.Tyr562fs)
NM_015559.3(SETBP1):c.1688C>G (p.Pro563Arg)
NM_015559.3(SETBP1):c.1690A>G (p.Ile564Val)
NM_015559.3(SETBP1):c.170C>T (p.Pro57Leu)
NM_015559.3(SETBP1):c.1727G>A (p.Ser576Asn) rs2145100286
NM_015559.3(SETBP1):c.1729C>A (p.Leu577Ile) rs2145100304
NM_015559.3(SETBP1):c.1746A>G (p.Pro582=)
NM_015559.3(SETBP1):c.175G>A (p.Glu59Lys)
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.176_191dup (p.Gly64_Ser65insGlyGlyTer)
NM_015559.3(SETBP1):c.1776G>A (p.Lys592=)
NM_015559.3(SETBP1):c.1776G>T (p.Lys592Asn)
NM_015559.3(SETBP1):c.177G>A (p.Glu59=)
NM_015559.3(SETBP1):c.1788C>T (p.Leu596=)
NM_015559.3(SETBP1):c.178G>A (p.Glu60Lys)
NM_015559.3(SETBP1):c.1791A>C (p.Thr597=)
NM_015559.3(SETBP1):c.1794C>T (p.Val598=)
NM_015559.3(SETBP1):c.1795G>A (p.Glu599Lys)
NM_015559.3(SETBP1):c.1799C>T (p.Thr600Met)
NM_015559.3(SETBP1):c.1800G>A (p.Thr600=)
NM_015559.3(SETBP1):c.1805A>G (p.His602Arg) rs2145100692
NM_015559.3(SETBP1):c.1809G>A (p.Glu603=)
NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn)
NM_015559.3(SETBP1):c.1820C>T (p.Thr607Ile)
NM_015559.3(SETBP1):c.1821C>G (p.Thr607=)
NM_015559.3(SETBP1):c.1827C>T (p.Pro609=)
NM_015559.3(SETBP1):c.1827dup (p.Val610fs) rs1599367236
NM_015559.3(SETBP1):c.1844G>A (p.Arg615Gln)
NM_015559.3(SETBP1):c.1848G>A (p.Glu616=)
NM_015559.3(SETBP1):c.1849T>A (p.Phe617Ile)
NM_015559.3(SETBP1):c.184G>A (p.Glu62Lys)
NM_015559.3(SETBP1):c.1852C>G (p.Pro618Ala) rs1374955137
NM_015559.3(SETBP1):c.1854T>A (p.Pro618=)
NM_015559.3(SETBP1):c.185A>T (p.Glu62Val)
NM_015559.3(SETBP1):c.1863G>A (p.Lys621=)
NM_015559.3(SETBP1):c.1865_1873dup (p.Lys624_Arg625insGlnArgLys)
NM_015559.3(SETBP1):c.1869A>T (p.Arg623Ser)
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015559.3(SETBP1):c.1878A>G (p.Arg626=)
NM_015559.3(SETBP1):c.1880G>T (p.Arg627Leu)
NM_015559.3(SETBP1):c.1889C>T (p.Ala630Val) rs540801169
NM_015559.3(SETBP1):c.1891A>G (p.Lys631Glu)
NM_015559.3(SETBP1):c.1893G>A (p.Lys631=)
NM_015559.3(SETBP1):c.1897G>T (p.Ala633Ser)
NM_015559.3(SETBP1):c.1903C>A (p.Leu635Ile)
NM_015559.3(SETBP1):c.1905A>G (p.Leu635=) rs2071342550
NM_015559.3(SETBP1):c.1907T>A (p.Val636Glu)
NM_015559.3(SETBP1):c.1909C>G (p.Pro637Ala)
NM_015559.3(SETBP1):c.1909C>T (p.Pro637Ser)
NM_015559.3(SETBP1):c.1910C>A (p.Pro637Gln) rs1011541536
NM_015559.3(SETBP1):c.1911G>T (p.Pro637=)
NM_015559.3(SETBP1):c.1912G>A (p.Gly638Arg) rs2145101623
NM_015559.3(SETBP1):c.1915G>A (p.Glu639Lys)
NM_015559.3(SETBP1):c.1929G>A (p.Met643Ile)
NM_015559.3(SETBP1):c.1936A>G (p.Met646Val)
NM_015559.3(SETBP1):c.1937T>A (p.Met646Lys) rs1185403336
NM_015559.3(SETBP1):c.1943T>G (p.Phe648Cys)
NM_015559.3(SETBP1):c.1945C>T (p.His649Tyr)
NM_015559.3(SETBP1):c.1947C>T (p.His649=)
NM_015559.3(SETBP1):c.194C>T (p.Ser65Leu)
NM_015559.3(SETBP1):c.1950G>T (p.Lys650Asn) rs2145101918
NM_015559.3(SETBP1):c.1953A>G (p.Lys651=)
NM_015559.3(SETBP1):c.1955T>C (p.Val652Ala)
NM_015559.3(SETBP1):c.1966G>A (p.Gly656Ser)
NM_015559.3(SETBP1):c.1968C>T (p.Gly656=)
NM_015559.3(SETBP1):c.1970T>C (p.Val657Ala) rs2145102057
NM_015559.3(SETBP1):c.1972T>C (p.Leu658=) rs1343265886
NM_015559.3(SETBP1):c.1982A>C (p.Lys661Thr)
NM_015559.3(SETBP1):c.1987A>G (p.Ile663Val)
NM_015559.3(SETBP1):c.1995T>G (p.Thr665=)
NM_015559.3(SETBP1):c.199C>A (p.Arg67=) rs955034546
NM_015559.3(SETBP1):c.2009A>G (p.Lys670Arg)
NM_015559.3(SETBP1):c.2013A>G (p.Thr671=) rs1476886999
NM_015559.3(SETBP1):c.2013A>T (p.Thr671=)
NM_015559.3(SETBP1):c.2017_2018del (p.Lys673fs) rs1599367726
NM_015559.3(SETBP1):c.2024A>G (p.Lys675Arg)
NM_015559.3(SETBP1):c.2043C>T (p.Ile681=)
NM_015559.3(SETBP1):c.2046G>A (p.Leu682=)
NM_015559.3(SETBP1):c.2055C>T (p.Ser685=)
NM_015559.3(SETBP1):c.2056A>C (p.Ser686Arg)
NM_015559.3(SETBP1):c.2056A>T (p.Ser686Cys)
NM_015559.3(SETBP1):c.205G>T (p.Val69Leu)
NM_015559.3(SETBP1):c.2060G>A (p.Ser687Asn) rs2145102547
NM_015559.3(SETBP1):c.2061C>A (p.Ser687Arg)
NM_015559.3(SETBP1):c.2064T>A (p.Val688=) rs2145102596
NM_015559.3(SETBP1):c.2066C>A (p.Ala689Asp)
NM_015559.3(SETBP1):c.2066C>T (p.Ala689Val)
NM_015559.3(SETBP1):c.2068C>T (p.Leu690=)
NM_015559.3(SETBP1):c.2070G>A (p.Leu690=)
NM_015559.3(SETBP1):c.2073G>A (p.Lys691=) rs2071347277
NM_015559.3(SETBP1):c.2080G>T (p.Ala694Ser) rs2145102683
NM_015559.3(SETBP1):c.2087C>A (p.Pro696Gln) rs1375574027
NM_015559.3(SETBP1):c.208G>T (p.Asp70Tyr) rs2069116787
NM_015559.3(SETBP1):c.2106A>C (p.Ala702=)
NM_015559.3(SETBP1):c.210T>G (p.Asp70Glu)
NM_015559.3(SETBP1):c.2110G>A (p.Ala704Thr) rs2145102904
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val) rs1599367870
NM_015559.3(SETBP1):c.2112C>T (p.Ala704=) rs2145102948
NM_015559.3(SETBP1):c.2114T>C (p.Ile705Thr)
NM_015559.3(SETBP1):c.2127G>A (p.Leu709=)
NM_015559.3(SETBP1):c.2129G>T (p.Gly710Val) rs2145103022
NM_015559.3(SETBP1):c.2132A>G (p.Lys711Arg) rs2145103042
NM_015559.3(SETBP1):c.2139T>C (p.Ile713=)
NM_015559.3(SETBP1):c.2142T>C (p.Asn714=)
NM_015559.3(SETBP1):c.2156G>A (p.Gly719Glu) rs2145103146
NM_015559.3(SETBP1):c.2168T>G (p.Ile723Ser)
NM_015559.3(SETBP1):c.2169T>C (p.Ile723=)
NM_015559.3(SETBP1):c.2179C>T (p.Arg727Trp)
NM_015559.3(SETBP1):c.2195G>A (p.Arg732Lys)
NM_015559.3(SETBP1):c.2197G>A (p.Ala733Thr)
NM_015559.3(SETBP1):c.2198C>T (p.Ala733Val)
NM_015559.3(SETBP1):c.2202G>A (p.Glu734=)
NM_015559.3(SETBP1):c.2207C>T (p.Pro736Leu)
NM_015559.3(SETBP1):c.2209C>A (p.Pro737Thr) rs1470620191
NM_015559.3(SETBP1):c.2218G>A (p.Glu740Lys)
NM_015559.3(SETBP1):c.2223A>T (p.Glu741Asp)
NM_015559.3(SETBP1):c.2225C>T (p.Pro742Leu)
NM_015559.3(SETBP1):c.222C>A (p.Asn74Lys) rs151108179
NM_015559.3(SETBP1):c.2234C>A (p.Ala745Asp)
NM_015559.3(SETBP1):c.2236A>G (p.Ile746Val)
NM_015559.3(SETBP1):c.2246C>A (p.Pro749His)
NM_015559.3(SETBP1):c.2248A>T (p.Arg750Trp)
NM_015559.3(SETBP1):c.224C>T (p.Ala75Val)
NM_015559.3(SETBP1):c.2254G>A (p.Val752Ile) rs2145103641
NM_015559.3(SETBP1):c.2255T>C (p.Val752Ala)
NM_015559.3(SETBP1):c.2257T>C (p.Ser753Pro)
NM_015559.3(SETBP1):c.2258C>G (p.Ser753Cys)
NM_015559.3(SETBP1):c.2264A>T (p.Gln755Leu)
NM_015559.3(SETBP1):c.2266C>T (p.Pro756Ser) rs2145103751
NM_015559.3(SETBP1):c.2269G>C (p.Asp757His)
NM_015559.3(SETBP1):c.2269_2281del (p.Asp757fs) rs1599368029
NM_015559.3(SETBP1):c.2276C>T (p.Pro759Leu)
NM_015559.3(SETBP1):c.2285C>T (p.Pro762Leu) rs2145103965
NM_015559.3(SETBP1):c.2290A>G (p.Asn764Asp) rs2071353992
NM_015559.3(SETBP1):c.2292C>T (p.Asn764=) rs2145103998
NM_015559.3(SETBP1):c.2297A>G (p.Gln766Arg)
NM_015559.3(SETBP1):c.2298G>A (p.Gln766=)
NM_015559.3(SETBP1):c.2303T>C (p.Leu768Pro)
NM_015559.3(SETBP1):c.2308G>A (p.Ala770Thr) rs199810775
NM_015559.3(SETBP1):c.2309C>G (p.Ala770Gly) rs2071354469
NM_015559.3(SETBP1):c.2309C>T (p.Ala770Val)
NM_015559.3(SETBP1):c.230G>A (p.Ser77Asn)
NM_015559.3(SETBP1):c.2310G>T (p.Ala770=)
NM_015559.3(SETBP1):c.2321C>A (p.Ala774Glu)
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=) rs2145104146
NM_015559.3(SETBP1):c.2323G>A (p.Ala775Thr)
NM_015559.3(SETBP1):c.2323G>C (p.Ala775Pro)
NM_015559.3(SETBP1):c.2334_2515del (p.Leu779fs)
NM_015559.3(SETBP1):c.2342C>T (p.Thr781Ile)
NM_015559.3(SETBP1):c.2344C>T (p.Gln782Ter)
NM_015559.3(SETBP1):c.2351G>T (p.Gly784Val)
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793
NM_015559.3(SETBP1):c.2360A>G (p.Asn787Ser)
NM_015559.3(SETBP1):c.2361T>C (p.Asn787=)
NM_015559.3(SETBP1):c.2364C>T (p.Gly788=)
NM_015559.3(SETBP1):c.2367C>T (p.Asn789=)
NM_015559.3(SETBP1):c.2372_2387del (p.Ser791fs) rs2145104445
NM_015559.3(SETBP1):c.2373C>T (p.Ser791=)
NM_015559.3(SETBP1):c.2377G>T (p.Ala793Ser)
NM_015559.3(SETBP1):c.2388A>G (p.Glu796=)
NM_015559.3(SETBP1):c.2389A>G (p.Thr797Ala)
NM_015559.3(SETBP1):c.240G>A (p.Trp80Ter)
NM_015559.3(SETBP1):c.240G>T (p.Trp80Cys)
NM_015559.3(SETBP1):c.2416C>T (p.Pro806Ser)
NM_015559.3(SETBP1):c.242_243del (p.Val81fs)
NM_015559.3(SETBP1):c.2433C>T (p.Ile811=)
NM_015559.3(SETBP1):c.2446A>G (p.Thr816Ala)
NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn) rs779562371
NM_015559.3(SETBP1):c.244G>T (p.Ala82Ser)
NM_015559.3(SETBP1):c.2469C>G (p.His823Gln)
NM_015559.3(SETBP1):c.2470A>G (p.Ser824Gly)
NM_015559.3(SETBP1):c.2479T>C (p.Trp827Arg)
NM_015559.3(SETBP1):c.2480G>A (p.Trp827Ter) rs2145105037
NM_015559.3(SETBP1):c.2504T>A (p.Met835Lys)
NM_015559.3(SETBP1):c.2506G>A (p.Ala836Thr)
NM_015559.3(SETBP1):c.2518T>C (p.Ser840Pro)
NM_015559.3(SETBP1):c.2522A>G (p.His841Arg) rs1229171334
NM_015559.3(SETBP1):c.2527T>G (p.Cys843Gly)
NM_015559.3(SETBP1):c.2530G>A (p.Glu844Lys)
NM_015559.3(SETBP1):c.2540C>G (p.Ser847Cys) rs1485191703
NM_015559.3(SETBP1):c.2542C>T (p.Leu848=)
NM_015559.3(SETBP1):c.2556G>A (p.Thr852=)
NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe) rs2071362354
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2564C>A (p.Pro855His) rs2145105600
NM_015559.3(SETBP1):c.2566G>T (p.Val856Leu) rs140028039
NM_015559.3(SETBP1):c.2570G>A (p.Ser857Asn) rs2145105638
NM_015559.3(SETBP1):c.2571C>A (p.Ser857Arg)
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.2583T>C (p.Ser861=)
NM_015559.3(SETBP1):c.2589G>C (p.Glu863Asp)
NM_015559.3(SETBP1):c.2591C>T (p.Thr864Met)
NM_015559.3(SETBP1):c.2595C>A (p.Ile865=) rs2071363353
NM_015559.3(SETBP1):c.25A>G (p.Ser9Gly)
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015559.3(SETBP1):c.2616G>A (p.Gly872=)
NM_015559.3(SETBP1):c.2621ACA[2] (p.Asn876del)
NM_015559.3(SETBP1):c.2622C>T (p.Asp874=) rs2145106023
NM_015559.3(SETBP1):c.2631C>A (p.Ser877Arg)
NM_015559.3(SETBP1):c.2640C>T (p.Asp880=) rs1168040934
NM_015559.3(SETBP1):c.2643A>T (p.Gln881His)
NM_015559.3(SETBP1):c.2649G>A (p.Glu883=)
NM_015559.3(SETBP1):c.2649G>T (p.Glu883Asp)
NM_015559.3(SETBP1):c.264G>A (p.Glu88=)
NM_015559.3(SETBP1):c.2654G>T (p.Ser885Ile)
NM_015559.3(SETBP1):c.2655C>G (p.Ser885Arg)
NM_015559.3(SETBP1):c.265C>A (p.Gln89Lys)
NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter) rs1568097623
NM_015559.3(SETBP1):c.2660A>C (p.Glu887Ala)
NM_015559.3(SETBP1):c.2663C>T (p.Ser888Phe)
NM_015559.3(SETBP1):c.2664C>T (p.Ser888=)
NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter) rs1599368734
NM_015559.3(SETBP1):c.2668A>G (p.Arg890Gly)
NM_015559.3(SETBP1):c.2671del (p.Arg891fs) rs2071365945
NM_015559.3(SETBP1):c.2676C>T (p.Tyr892=)
NM_015559.3(SETBP1):c.2681_2682del (p.Ser893_Phe894insTer) rs2145106470
NM_015559.3(SETBP1):c.2685T>A (p.Asp895Glu)
NM_015559.3(SETBP1):c.2694C>A (p.Ser898=)
NM_015559.3(SETBP1):c.2694C>T (p.Ser898=)
NM_015559.3(SETBP1):c.2699A>G (p.Asp900Gly) rs2071366432
NM_015559.3(SETBP1):c.26G>C (p.Ser9Thr) rs1343658768
NM_015559.3(SETBP1):c.2700C>A (p.Asp900Glu)
NM_015559.3(SETBP1):c.2700C>T (p.Asp900=)
NM_015559.3(SETBP1):c.2701A>G (p.Asn901Asp)
NM_015559.3(SETBP1):c.2704C>T (p.Pro902Ser)
NM_015559.3(SETBP1):c.2705C>G (p.Pro902Arg)
NM_015559.3(SETBP1):c.2705C>T (p.Pro902Leu) rs139479590
NM_015559.3(SETBP1):c.2714T>C (p.Ile905Thr)
NM_015559.3(SETBP1):c.2718G>T (p.Pro906=) rs766932372
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn)
NM_015559.3(SETBP1):c.2722G>T (p.Asp908Tyr)
NM_015559.3(SETBP1):c.2725A>G (p.Thr909Ala)
NM_015559.3(SETBP1):c.2726C>T (p.Thr909Ile) rs2145106868
NM_015559.3(SETBP1):c.2727C>G (p.Thr909=)
NM_015559.3(SETBP1):c.2730C>T (p.Ser910=)
NM_015559.3(SETBP1):c.2731A>C (p.Thr911Pro)
NM_015559.3(SETBP1):c.2732C>A (p.Thr911Lys) rs2145106916
NM_015559.3(SETBP1):c.2738dup (p.Asn913fs)
NM_015559.3(SETBP1):c.2740C>A (p.Arg914=) rs758128091
NM_015559.3(SETBP1):c.2740C>T (p.Arg914Trp)
NM_015559.3(SETBP1):c.274T>A (p.Ser92Thr)
NM_015559.3(SETBP1):c.2752C>G (p.Arg918Gly)
NM_015559.3(SETBP1):c.2762A>C (p.His921Pro)
NM_015559.3(SETBP1):c.2762A>G (p.His921Arg)
NM_015559.3(SETBP1):c.2764C>T (p.Leu922Phe)
NM_015559.3(SETBP1):c.2765T>A (p.Leu922His)
NM_015559.3(SETBP1):c.2770G>A (p.Val924Met) rs1360698875
NM_015559.3(SETBP1):c.2770G>T (p.Val924Leu)
NM_015559.3(SETBP1):c.2772G>A (p.Val924=) rs748307185
NM_015559.3(SETBP1):c.2773G>A (p.Asp925Asn)
NM_015559.3(SETBP1):c.277A>G (p.Ile93Val) rs2144197963
NM_015559.3(SETBP1):c.2782C>G (p.Leu928Val)
NM_015559.3(SETBP1):c.2786C>G (p.Ala929Gly) rs2145107427
NM_015559.3(SETBP1):c.2788C>T (p.His930Tyr)
NM_015559.3(SETBP1):c.2793A>G (p.Glu931=)
NM_015559.3(SETBP1):c.2800A>C (p.Lys934Gln)
NM_015559.3(SETBP1):c.2821A>C (p.Lys941Gln) rs2145107824
NM_015559.3(SETBP1):c.2825G>A (p.Arg942Gln)
NM_015559.3(SETBP1):c.2826G>A (p.Arg942=)
NM_015559.3(SETBP1):c.2831G>A (p.Ser944Asn) rs1217108018
NM_015559.3(SETBP1):c.2832C>A (p.Ser944Arg)
NM_015559.3(SETBP1):c.2842C>G (p.Arg948Gly)
NM_015559.3(SETBP1):c.2844C>T (p.Arg948=) rs1568236664
NM_015559.3(SETBP1):c.2852T>G (p.Leu951Arg)
NM_015559.3(SETBP1):c.286G>A (p.Ala96Thr)
NM_015559.3(SETBP1):c.2874G>C (p.Glu958Asp)
NM_015559.3(SETBP1):c.2875G>A (p.Glu959Lys)
NM_015559.3(SETBP1):c.2878C>G (p.Leu960Val)
NM_015559.3(SETBP1):c.2878_2879delinsG (p.Leu960fs) rs2145108345
NM_015559.3(SETBP1):c.2885C>T (p.Thr962Ile)
NM_015559.3(SETBP1):c.2887A>G (p.Lys963Glu)
NM_015559.3(SETBP1):c.2893C>A (p.Gln965Lys)
NM_015559.3(SETBP1):c.289A>G (p.Asn97Asp)
NM_015559.3(SETBP1):c.2903G>T (p.Arg968Ile)
NM_015559.3(SETBP1):c.290A>T (p.Asn97Ile)
NM_015559.3(SETBP1):c.2913C>T (p.His971=)
NM_015559.3(SETBP1):c.2914C>T (p.Arg972Trp) rs777055072
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) rs2071375286
NM_015559.3(SETBP1):c.2923A>G (p.Thr975Ala)
NM_015559.3(SETBP1):c.2930A>G (p.Tyr977Cys)
NM_015559.3(SETBP1):c.2935G>A (p.Glu979Lys)
NM_015559.3(SETBP1):c.2935G>C (p.Glu979Gln) rs373493544
NM_015559.3(SETBP1):c.2959C>A (p.Arg987=) rs767152507
NM_015559.3(SETBP1):c.2959C>T (p.Arg987Trp)
NM_015559.3(SETBP1):c.2960G>A (p.Arg987Gln)
NM_015559.3(SETBP1):c.2961G>A (p.Arg987=)
NM_015559.3(SETBP1):c.2962A>G (p.Ile988Val) rs2145109066
NM_015559.3(SETBP1):c.296C>G (p.Thr99Arg)
NM_015559.3(SETBP1):c.2976C>T (p.His992=)
NM_015559.3(SETBP1):c.2983C>G (p.Pro995Ala)
NM_015559.3(SETBP1):c.2985G>T (p.Pro995=)
NM_015559.3(SETBP1):c.2988G>A (p.Val996=)
NM_015559.3(SETBP1):c.2989C>T (p.Pro997Ser)
NM_015559.3(SETBP1):c.3002A>G (p.Tyr1001Cys)
NM_015559.3(SETBP1):c.3006C>T (p.Asp1002=)
NM_015559.3(SETBP1):c.3010T>C (p.Leu1004=)
NM_015559.3(SETBP1):c.3015C>T (p.Leu1005=)
NM_015559.3(SETBP1):c.3017A>G (p.Tyr1006Cys) rs1364026887
NM_015559.3(SETBP1):c.3019C>A (p.Leu1007Ile)
NM_015559.3(SETBP1):c.3021T>C (p.Leu1007=)
NM_015559.3(SETBP1):c.3022C>T (p.Arg1008Cys)
NM_015559.3(SETBP1):c.3023G>T (p.Arg1008Leu)
NM_015559.3(SETBP1):c.3026G>A (p.Arg1009Lys)
NM_015559.3(SETBP1):c.3027G>T (p.Arg1009Ser) rs2145109633
NM_015559.3(SETBP1):c.3030T>A (p.Thr1010=)
NM_015559.3(SETBP1):c.3034G>C (p.Asp1012His)
NM_015559.3(SETBP1):c.3037T>C (p.Leu1013=)
NM_015559.3(SETBP1):c.3038T>G (p.Leu1013Trp)
NM_015559.3(SETBP1):c.3042G>A (p.Lys1014=)
NM_015559.3(SETBP1):c.3046AAG[2] (p.Lys1018del)
NM_015559.3(SETBP1):c.3056G>A (p.Arg1019His)
NM_015559.3(SETBP1):c.3059G>T (p.Gly1020Val)
NM_015559.3(SETBP1):c.3065C>T (p.Pro1022Leu) rs1362664483
NM_015559.3(SETBP1):c.3078T>C (p.Asn1026=)
NM_015559.3(SETBP1):c.3083C>G (p.Thr1028Ser)
NM_015559.3(SETBP1):c.3085A>G (p.Met1029Val)
NM_015559.3(SETBP1):c.3087G>A (p.Met1029Ile)
NM_015559.3(SETBP1):c.3091A>G (p.Lys1031Glu)
NM_015559.3(SETBP1):c.3096G>C (p.Val1032=)
NM_015559.3(SETBP1):c.3096G>T (p.Val1032=) rs751694843
NM_015559.3(SETBP1):c.309G>A (p.Leu103=)
NM_015559.3(SETBP1):c.3111G>T (p.Gly1037=) rs2145110256
NM_015559.3(SETBP1):c.3115A>T (p.Ser1039Cys)
NM_015559.3(SETBP1):c.3118T>C (p.Tyr1040His)
NM_015559.3(SETBP1):c.311A>G (p.Lys104Arg)
NM_015559.3(SETBP1):c.3134G>A (p.Gly1045Glu)
NM_015559.3(SETBP1):c.3137G>A (p.Ser1046Asn)
NM_015559.3(SETBP1):c.3139T>G (p.Tyr1047Asp)
NM_015559.3(SETBP1):c.3140A>C (p.Tyr1047Ser)
NM_015559.3(SETBP1):c.314_315dup (p.Lys106Ter)
NM_015559.3(SETBP1):c.3150C>T (p.Pro1050=)
NM_015559.3(SETBP1):c.3151dup (p.Tyr1051fs) rs2071382679
NM_015559.3(SETBP1):c.3157A>T (p.Met1053Leu)
NM_015559.3(SETBP1):c.3178A>G (p.Met1060Val)
NM_015559.3(SETBP1):c.3181A>T (p.Met1061Leu)
NM_015559.3(SETBP1):c.3183G>A (p.Met1061Ile)
NM_015559.3(SETBP1):c.3186C>T (p.Asn1062=) rs1241799844
NM_015559.3(SETBP1):c.3190G>C (p.Gly1064Arg)
NM_015559.3(SETBP1):c.3198C>T (p.Tyr1066=)
NM_015559.3(SETBP1):c.3199G>A (p.Gly1067Ser)
NM_015559.3(SETBP1):c.31C>G (p.Arg11Gly)
NM_015559.3(SETBP1):c.3200G>A (p.Gly1067Asp)
NM_015559.3(SETBP1):c.3204G>T (p.Gln1068His)
NM_015559.3(SETBP1):c.3208C>G (p.Pro1070Ala)
NM_015559.3(SETBP1):c.3211G>A (p.Ala1071Thr)
NM_015559.3(SETBP1):c.3214C>T (p.Pro1072Ser)
NM_015559.3(SETBP1):c.3220T>C (p.Tyr1074His)
NM_015559.3(SETBP1):c.3223C>A (p.Leu1075Ile)
NM_015559.3(SETBP1):c.3225A>G (p.Leu1075=)
NM_015559.3(SETBP1):c.3229C>T (p.His1077Tyr) rs2145110964
NM_015559.3(SETBP1):c.3234G>T (p.Thr1078=)
NM_015559.3(SETBP1):c.3239G>A (p.Gly1080Glu) rs2071385311
NM_015559.3(SETBP1):c.3239G>C (p.Gly1080Ala)
NM_015559.3(SETBP1):c.3242C>A (p.Ala1081Glu)
NM_015559.3(SETBP1):c.3243A>G (p.Ala1081=)
NM_015559.3(SETBP1):c.3247T>G (p.Ser1083Ala) rs2145111107
NM_015559.3(SETBP1):c.3250C>G (p.Pro1084Ala)
NM_015559.3(SETBP1):c.3252A>G (p.Pro1084=)
NM_015559.3(SETBP1):c.3260G>A (p.Arg1087Lys)
NM_015559.3(SETBP1):c.3266C>T (p.Thr1089Ile)
NM_015559.3(SETBP1):c.3274C>T (p.Pro1092Ser)
NM_015559.3(SETBP1):c.3276A>C (p.Pro1092=)
NM_015559.3(SETBP1):c.3277C>T (p.Pro1093Ser)
NM_015559.3(SETBP1):c.327C>G (p.Thr109=)
NM_015559.3(SETBP1):c.3288C>T (p.His1096=) rs1599370116
NM_015559.3(SETBP1):c.3294C>G (p.Asn1098Lys)
NM_015559.3(SETBP1):c.32G>A (p.Arg11Gln)
NM_015559.3(SETBP1):c.3300C>T (p.His1100=)
NM_015559.3(SETBP1):c.3307A>T (p.Met1103Leu)
NM_015559.3(SETBP1):c.330A>G (p.Thr110=)
NM_015559.3(SETBP1):c.3311C>T (p.Ser1104Phe)
NM_015559.3(SETBP1):c.3326A>G (p.His1109Arg)
NM_015559.3(SETBP1):c.3327T>G (p.His1109Gln)
NM_015559.3(SETBP1):c.3332C>A (p.Ala1111Asp)
NM_015559.3(SETBP1):c.3332C>T (p.Ala1111Val)
NM_015559.3(SETBP1):c.3333C>T (p.Ala1111=)
NM_015559.3(SETBP1):c.3338A>G (p.His1113Arg)
NM_015559.3(SETBP1):c.333_486+171del
NM_015559.3(SETBP1):c.3343G>A (p.Val1115Ile)
NM_015559.3(SETBP1):c.3344T>G (p.Val1115Gly) rs2145111811
NM_015559.3(SETBP1):c.3346C>T (p.His1116Tyr)
NM_015559.3(SETBP1):c.3348C>T (p.His1116=)
NM_015559.3(SETBP1):c.334C>T (p.Arg112Trp) rs2144198183
NM_015559.3(SETBP1):c.3351G>A (p.Leu1117=)
NM_015559.3(SETBP1):c.3354G>A (p.Gln1118=)
NM_015559.3(SETBP1):c.3361G>A (p.Val1121Ile) rs2145111962
NM_015559.3(SETBP1):c.3363T>C (p.Val1121=)
NM_015559.3(SETBP1):c.3367A>G (p.Met1123Val) rs766776747
NM_015559.3(SETBP1):c.3369G>T (p.Met1123Ile)
NM_015559.3(SETBP1):c.3370G>T (p.Gly1124Cys)
NM_015559.3(SETBP1):c.3371G>A (p.Gly1124Asp)
NM_015559.3(SETBP1):c.3372C>T (p.Gly1124=)
NM_015559.3(SETBP1):c.3376G>A (p.Gly1126Ser)
NM_015559.3(SETBP1):c.3377G>T (p.Gly1126Val)
NM_015559.3(SETBP1):c.3383T>A (p.Met1128Lys)
NM_015559.3(SETBP1):c.3385C>G (p.Gln1129Glu)
NM_015559.3(SETBP1):c.3388C>G (p.Pro1130Ala) rs1064204
NM_015559.3(SETBP1):c.3388_3389delinsAG (p.Pro1130Ser)
NM_015559.3(SETBP1):c.3388_3389delinsAT (p.Pro1130Ile)
NM_015559.3(SETBP1):c.3397A>T (p.Asn1133Tyr)
NM_015559.3(SETBP1):c.3403C>T (p.Pro1135Ser)
NM_015559.3(SETBP1):c.3404C>G (p.Pro1135Arg)
NM_015559.3(SETBP1):c.3408G>C (p.Lys1136Asn)
NM_015559.3(SETBP1):c.3415A>G (p.Ser1139Gly) rs2145112452
NM_015559.3(SETBP1):c.3418G>T (p.Ala1140Ser)
NM_015559.3(SETBP1):c.3422G>C (p.Ser1141Thr)
NM_015559.3(SETBP1):c.3424C>T (p.Leu1142=)
NM_015559.3(SETBP1):c.3426G>C (p.Leu1142=)
NM_015559.3(SETBP1):c.3434G>A (p.Gly1145Asp) rs1555707417
NM_015559.3(SETBP1):c.3436C>T (p.Arg1146Trp) rs768536660
NM_015559.3(SETBP1):c.3437G>A (p.Arg1146Gln)
NM_015559.3(SETBP1):c.3440T>C (p.Leu1147Pro)
NM_015559.3(SETBP1):c.3441C>T (p.Leu1147=) rs2145112707
NM_015559.3(SETBP1):c.3447G>A (p.Lys1149=)
NM_015559.3(SETBP1):c.3454C>T (p.His1152Tyr)
NM_015559.3(SETBP1):c.345A>G (p.Lys115=)
NM_015559.3(SETBP1):c.3462C>T (p.His1154=)
NM_015559.3(SETBP1):c.3464_3465insACAGCAAGAGGGGAACCATCTACATTGGCAAGAAGCGGGGCAGGAAGCCAAGAGCAGAGCTGCCACCCCCATCCGAAGAACCCAAAACAGCCATCAAGCACCCCAGGCCTGTTTCTAGCCAGCCGGATGTTCCAGCCGTGCCTTCCAACTTTCAGTCACTTGTGGCGTCTTCACCAGCAGCTATGCACCCACTTTCAACACGCATAAGCACAAGGATAAGCGCAACACGCAACAA (p.Lys1155_His1156insGlnGlnGluGlyAsnHisLeuHisTrpGlnGluAlaGlyGlnGluAlaLysSerArgAlaAlaThrProIleArgArgThrGlnAsnSerHisGlnAlaProGlnAlaCysPheTer)
NM_015559.3(SETBP1):c.3469A>G (p.Lys1157Glu)
NM_015559.3(SETBP1):c.346C>T (p.Pro116Ser)
NM_015559.3(SETBP1):c.3470A>G (p.Lys1157Arg)
NM_015559.3(SETBP1):c.3484C>T (p.Arg1162Trp)
NM_015559.3(SETBP1):c.3486G>A (p.Arg1162=) rs756707623
NM_015559.3(SETBP1):c.3493G>A (p.Gly1165Arg)
NM_015559.3(SETBP1):c.3497C>A (p.Thr1166Asn)
NM_015559.3(SETBP1):c.349C>G (p.Pro117Ala)
NM_015559.3(SETBP1):c.3507C>T (p.Asn1169=) rs2145113175
NM_015559.3(SETBP1):c.3512G>A (p.Ser1171Asn) rs2145113210
NM_015559.3(SETBP1):c.3514G>C (p.Gly1172Arg)
NM_015559.3(SETBP1):c.3519T>A (p.Leu1173=) rs2145113275
NM_015559.3(SETBP1):c.3520T>G (p.Phe1174Val)
NM_015559.3(SETBP1):c.3526G>A (p.Gly1176Ser)
NM_015559.3(SETBP1):c.3528C>T (p.Gly1176=)
NM_015559.3(SETBP1):c.352A>G (p.Lys118Glu) rs752703934
NM_015559.3(SETBP1):c.3532G>A (p.Ala1178Thr)
NM_015559.3(SETBP1):c.3535_3551delinsTGCAGGCAAAGCCTGCAAAAGCT (p.Thr1179_His1184delinsCysArgGlnSerLeuGlnLysLeu)
NM_015559.3(SETBP1):c.3539G>T (p.Gly1180Val)
NM_015559.3(SETBP1):c.3540C>G (p.Gly1180=)
NM_015559.3(SETBP1):c.3540C>T (p.Gly1180=) rs761867528
NM_015559.3(SETBP1):c.3545C>G (p.Ser1182Cys)
NM_015559.3(SETBP1):c.3552C>A (p.His1184Gln)
NM_015559.3(SETBP1):c.3554T>C (p.Ile1185Thr)
NM_015559.3(SETBP1):c.3559A>G (p.Ser1187Gly)
NM_015559.3(SETBP1):c.3560del (p.Ser1187fs)
NM_015559.3(SETBP1):c.3561C>T (p.Ser1187=) rs138530624
NM_015559.3(SETBP1):c.3562G>T (p.Glu1188Ter)
NM_015559.3(SETBP1):c.3565C>A (p.Arg1189=) rs1380272330
NM_015559.3(SETBP1):c.3565C>T (p.Arg1189Trp) rs1380272330
NM_015559.3(SETBP1):c.3566G>A (p.Arg1189Gln)
NM_015559.3(SETBP1):c.3571A>C (p.Ser1191Arg)
NM_015559.3(SETBP1):c.3573T>C (p.Ser1191=)
NM_015559.3(SETBP1):c.3577G>T (p.Ala1193Ser) rs534963356
NM_015559.3(SETBP1):c.357T>G (p.Asn119Lys)
NM_015559.3(SETBP1):c.3584A>T (p.Lys1195Ile)
NM_015559.3(SETBP1):c.358T>C (p.Leu120=)
NM_015559.3(SETBP1):c.3593C>A (p.Pro1198Gln)
NM_015559.3(SETBP1):c.3598G>A (p.Val1200Met)
NM_015559.3(SETBP1):c.3599T>C (p.Val1200Ala) rs2145114005
NM_015559.3(SETBP1):c.3600G>A (p.Val1200=) rs375838339
NM_015559.3(SETBP1):c.3601A>G (p.Ser1201Gly) rs2145114056
NM_015559.3(SETBP1):c.3609G>A (p.Lys1203=)
NM_015559.3(SETBP1):c.3611A>G (p.Asn1204Ser)
NM_015559.3(SETBP1):c.3616C>G (p.His1206Asp) rs2071396956
NM_015559.3(SETBP1):c.3617A>G (p.His1206Arg)
NM_015559.3(SETBP1):c.3617A>T (p.His1206Leu)
NM_015559.3(SETBP1):c.3625A>G (p.Lys1209Glu)
NM_015559.3(SETBP1):c.3627A>C (p.Lys1209Asn)
NM_015559.3(SETBP1):c.3628C>G (p.Gln1210Glu)
NM_015559.3(SETBP1):c.3634C>T (p.His1212Tyr)
NM_015559.3(SETBP1):c.3635A>G (p.His1212Arg) rs2145114303
NM_015559.3(SETBP1):c.3636C>T (p.His1212=)
NM_015559.3(SETBP1):c.3642C>A (p.His1214Gln)
NM_015559.3(SETBP1):c.3644_3658del (p.Ser1215_His1219del)
NM_015559.3(SETBP1):c.3646G>A (p.Glu1216Lys)
NM_015559.3(SETBP1):c.3651C>T (p.Ala1217=)
NM_015559.3(SETBP1):c.3652G>C (p.Gly1218Arg)
NM_015559.3(SETBP1):c.3653G>A (p.Gly1218Asp)
NM_015559.3(SETBP1):c.3659A>G (p.Lys1220Arg)
NM_015559.3(SETBP1):c.3661G>A (p.Ala1221Thr)
NM_015559.3(SETBP1):c.3666T>C (p.Ser1222=)
NM_015559.3(SETBP1):c.3669G>A (p.Lys1223=)
NM_015559.3(SETBP1):c.3674A>G (p.Asn1225Ser)
NM_015559.3(SETBP1):c.3692T>A (p.Leu1231Gln)
NM_015559.3(SETBP1):c.3695C>T (p.Ser1232Phe)
NM_015559.3(SETBP1):c.3712G>A (p.Asp1238Asn)
NM_015559.3(SETBP1):c.3712G>T (p.Asp1238Tyr) rs144087649
NM_015559.3(SETBP1):c.3715G>A (p.Ala1239Thr)
NM_015559.3(SETBP1):c.3717C>A (p.Ala1239=)
NM_015559.3(SETBP1):c.3722A>G (p.His1241Arg)
NM_015559.3(SETBP1):c.3728C>T (p.Thr1243Ile)
NM_015559.3(SETBP1):c.3730C>G (p.Gln1244Glu) rs2145114937
NM_015559.3(SETBP1):c.3740A>G (p.Glu1247Gly) rs2145115036
NM_015559.3(SETBP1):c.3750C>T (p.Asp1250=)
NM_015559.3(SETBP1):c.3751T>A (p.Leu1251Met)
NM_015559.3(SETBP1):c.3763C>T (p.Pro1255Ser)
NM_015559.3(SETBP1):c.376C>T (p.Pro126Ser)
NM_015559.3(SETBP1):c.3770_3800dup (p.Gly1268fs) rs2071401524
NM_015559.3(SETBP1):c.3775T>A (p.Cys1259Ser) rs2071401943
NM_015559.3(SETBP1):c.3782A>G (p.Lys1261Arg)
NM_015559.3(SETBP1):c.3786A>G (p.Arg1262=)
NM_015559.3(SETBP1):c.3789C>T (p.Tyr1263=)
NM_015559.3(SETBP1):c.3796A>T (p.Ser1266Cys)
NM_015559.3(SETBP1):c.3797G>A (p.Ser1266Asn)
NM_015559.3(SETBP1):c.3799G>T (p.Gly1267Cys)
NM_015559.3(SETBP1):c.3802G>A (p.Gly1268Arg)
NM_015559.3(SETBP1):c.3813C>A (p.Gly1271=)
NM_015559.3(SETBP1):c.3815G>A (p.Ser1272Asn)
NM_015559.3(SETBP1):c.381T>A (p.Pro127=)
NM_015559.3(SETBP1):c.3824_3825delinsGG (p.Ser1275Trp)
NM_015559.3(SETBP1):c.3824_3825inv (p.Ser1275Leu)
NM_015559.3(SETBP1):c.3829A>C (p.Asn1277His)
NM_015559.3(SETBP1):c.3831C>T (p.Asn1277=)
NM_015559.3(SETBP1):c.3832C>T (p.Leu1278=)
NM_015559.3(SETBP1):c.3835G>A (p.Asp1279Asn)
NM_015559.3(SETBP1):c.3837C>T (p.Asp1279=)
NM_015559.3(SETBP1):c.3846T>A (p.Ser1282Arg) rs748305579
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln)
NM_015559.3(SETBP1):c.3851T>C (p.Met1284Thr) rs2145115984
NM_015559.3(SETBP1):c.3853A>G (p.Asn1285Asp)
NM_015559.3(SETBP1):c.3855C>T (p.Asn1285=)
NM_015559.3(SETBP1):c.3861G>T (p.Ser1287=)
NM_015559.3(SETBP1):c.3866A>T (p.Asp1289Val)
NM_015559.3(SETBP1):c.3870G>A (p.Lys1290=) rs769389920
NM_015559.3(SETBP1):c.3874G>C (p.Asp1292His)
NM_015559.3(SETBP1):c.3875A>T (p.Asp1292Val) rs2145116254
NM_015559.3(SETBP1):c.3877A>G (p.Ser1293Gly)
NM_015559.3(SETBP1):c.3879T>G (p.Ser1293Arg)
NM_015559.3(SETBP1):c.3888T>A (p.Ser1296Arg)
NM_015559.3(SETBP1):c.3900GAG[1] (p.Arg1301del) rs754546927
NM_015559.3(SETBP1):c.3905G>A (p.Ser1302Asn)
NM_015559.3(SETBP1):c.3906C>T (p.Ser1302=)
NM_015559.3(SETBP1):c.3908A>C (p.Tyr1303Ser)
NM_015559.3(SETBP1):c.3908A>G (p.Tyr1303Cys)
NM_015559.3(SETBP1):c.3921A>G (p.Gly1307=)
NM_015559.3(SETBP1):c.3925T>C (p.Tyr1309His) rs1017289068
NM_015559.3(SETBP1):c.3926A>G (p.Tyr1309Cys)
NM_015559.3(SETBP1):c.3930G>A (p.Arg1310=)
NM_015559.3(SETBP1):c.3932A>C (p.Glu1311Ala)
NM_015559.3(SETBP1):c.3946G>T (p.Ala1316Ser)
NM_015559.3(SETBP1):c.3947C>A (p.Ala1316Asp)
NM_015559.3(SETBP1):c.3951C>G (p.Phe1317Leu)
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
NM_015559.3(SETBP1):c.3962G>T (p.Arg1321Leu) rs149638556
NM_015559.3(SETBP1):c.3971G>A (p.Arg1324Lys)
NM_015559.3(SETBP1):c.3974G>A (p.Ser1325Asn)
NM_015559.3(SETBP1):c.3977C>T (p.Ser1326Phe)
NM_015559.3(SETBP1):c.3980A>G (p.Tyr1327Cys)
NM_015559.3(SETBP1):c.3982G>A (p.Asp1328Asn)
NM_015559.3(SETBP1):c.3992T>C (p.Met1331Thr)
NM_015559.3(SETBP1):c.3997C>A (p.Pro1333Thr) rs1176680137
NM_015559.3(SETBP1):c.3998C>T (p.Pro1333Leu)
NM_015559.3(SETBP1):c.4000+16T>A
NM_015559.3(SETBP1):c.4001-10T>A
NM_015559.3(SETBP1):c.4001-13T>C
NM_015559.3(SETBP1):c.4001-15G>A
NM_015559.3(SETBP1):c.4001-6T>C rs1289430441
NM_015559.3(SETBP1):c.4003A>G (p.Met1335Val)
NM_015559.3(SETBP1):c.4011T>A (p.Ser1337Arg)
NM_015559.3(SETBP1):c.4013C>A (p.Pro1338His)
NM_015559.3(SETBP1):c.4015C>T (p.His1339Tyr)
NM_015559.3(SETBP1):c.4016A>G (p.His1339Arg) rs1238612391
NM_015559.3(SETBP1):c.4017C>T (p.His1339=)
NM_015559.3(SETBP1):c.4021A>G (p.Lys1341Glu)
NM_015559.3(SETBP1):c.402G>A (p.Lys134=)
NM_015559.3(SETBP1):c.4037C>A (p.Ala1346Glu)
NM_015559.3(SETBP1):c.4037C>T (p.Ala1346Val)
NM_015559.3(SETBP1):c.4039G>A (p.Val1347Met)
NM_015559.3(SETBP1):c.4039G>C (p.Val1347Leu)
NM_015559.3(SETBP1):c.4041G>A (p.Val1347=)
NM_015559.3(SETBP1):c.4046G>A (p.Ser1349Asn)
NM_015559.3(SETBP1):c.4050G>A (p.Lys1350=)
NM_015559.3(SETBP1):c.4053C>T (p.Asn1351=)
NM_015559.3(SETBP1):c.4058G>C (p.Gly1353Ala)
NM_015559.3(SETBP1):c.4059C>T (p.Gly1353=)
NM_015559.3(SETBP1):c.405G>T (p.Gln135His)
NM_015559.3(SETBP1):c.4061C>T (p.Ser1354Leu)
NM_015559.3(SETBP1):c.4070C>G (p.Thr1357Ser)
NM_015559.3(SETBP1):c.4074G>A (p.Met1358Ile)
NM_015559.3(SETBP1):c.4078A>G (p.Thr1360Ala) rs2145495174
NM_015559.3(SETBP1):c.4079C>T (p.Thr1360Ile) rs2073446362
NM_015559.3(SETBP1):c.4089G>C (p.Lys1363Asn) rs2145495196
NM_015559.3(SETBP1):c.408_409del (p.Asp138fs)
NM_015559.3(SETBP1):c.4092A>G (p.Pro1364=)
NM_015559.3(SETBP1):c.4093G>C (p.Ala1365Pro)
NM_015559.3(SETBP1):c.4096G>T (p.Ala1366Ser) rs145549368
NM_015559.3(SETBP1):c.4112C>A (p.Thr1371Lys)
NM_015559.3(SETBP1):c.4112C>T (p.Thr1371Ile) rs2073447126
NM_015559.3(SETBP1):c.4118C>T (p.Pro1373Leu)
NM_015559.3(SETBP1):c.4126C>T (p.Pro1376Ser) rs2145495440
NM_015559.3(SETBP1):c.4129G>T (p.Val1377Leu)
NM_015559.3(SETBP1):c.4130T>C (p.Val1377Ala)
NM_015559.3(SETBP1):c.4131G>C (p.Val1377=)
NM_015559.3(SETBP1):c.4132T>A (p.Leu1378Ile) rs374527037
NM_015559.3(SETBP1):c.4139T>C (p.Leu1380Pro)
NM_015559.3(SETBP1):c.4141C>A (p.Leu1381Ile)
NM_015559.3(SETBP1):c.414C>T (p.Asp138=)
NM_015559.3(SETBP1):c.4150T>C (p.Ser1384Pro)
NM_015559.3(SETBP1):c.4151C>G (p.Ser1384Cys)
NM_015559.3(SETBP1):c.4154C>T (p.Ala1385Val)
NM_015559.3(SETBP1):c.4155_4171+10dup
NM_015559.3(SETBP1):c.4160C>A (p.Thr1387Lys)
NM_015559.3(SETBP1):c.4166A>G (p.Asp1389Gly) rs2145495807
NM_015559.3(SETBP1):c.4167T>C (p.Asp1389=) rs760955147
NM_015559.3(SETBP1):c.4168G>T (p.Ala1390Ser)
NM_015559.3(SETBP1):c.4171+15G>A
NM_015559.3(SETBP1):c.4171+16A>T
NM_015559.3(SETBP1):c.4171+22del
NM_015559.3(SETBP1):c.4171+7A>G
NM_015559.3(SETBP1):c.4172-15C>T
NM_015559.3(SETBP1):c.4172-17C>T
NM_015559.3(SETBP1):c.4172-19A>G
NM_015559.3(SETBP1):c.4172-4G>A
NM_015559.3(SETBP1):c.4172-5C>A
NM_015559.3(SETBP1):c.4172-5C>G rs749187765
NM_015559.3(SETBP1):c.4172-5C>T
NM_015559.3(SETBP1):c.4172-7C>T rs1247786645
NM_015559.3(SETBP1):c.4172-9C>A
NM_015559.3(SETBP1):c.4172-9C>T
NM_015559.3(SETBP1):c.4172-9dup rs2145592237
NM_015559.3(SETBP1):c.4172T>A (p.Val1391Asp)
NM_015559.3(SETBP1):c.4178C>T (p.Ser1393Phe)
NM_015559.3(SETBP1):c.4188G>T (p.Lys1396Asn) rs2145592381
NM_015559.3(SETBP1):c.4192A>C (p.Arg1398=)
NM_015559.3(SETBP1):c.4201C>A (p.Arg1401=)
NM_015559.3(SETBP1):c.4203G>A (p.Arg1401=)
NM_015559.3(SETBP1):c.4203G>T (p.Arg1401=)
NM_015559.3(SETBP1):c.4212C>G (p.Ile1404Met) rs2145592533
NM_015559.3(SETBP1):c.4217C>A (p.Ala1406Asp) rs1289886869
NM_015559.3(SETBP1):c.4221C>A (p.Ile1407=)
NM_015559.3(SETBP1):c.4232T>C (p.Val1411Ala)
NM_015559.3(SETBP1):c.4234C>G (p.Arg1412Gly) rs145996171
NM_015559.3(SETBP1):c.4234C>T (p.Arg1412Trp)
NM_015559.3(SETBP1):c.4237A>C (p.Lys1413Gln)
NM_015559.3(SETBP1):c.4239G>A (p.Lys1413=)
NM_015559.3(SETBP1):c.4239G>C (p.Lys1413Asn) rs200002988
NM_015559.3(SETBP1):c.4239G>T (p.Lys1413Asn) rs200002988
NM_015559.3(SETBP1):c.4244G>A (p.Cys1415Tyr)
NM_015559.3(SETBP1):c.4252A>G (p.Thr1418Ala)
NM_015559.3(SETBP1):c.4254C>A (p.Thr1418=) rs2145592718
NM_015559.3(SETBP1):c.4259_4273dup (p.Lys1424_Lys1425insIleLeuSerThrLys)
NM_015559.3(SETBP1):c.4279C>T (p.Leu1427=)
NM_015559.3(SETBP1):c.427C>G (p.Arg143Gly)
NM_015559.3(SETBP1):c.428G>A (p.Arg143His)
NM_015559.3(SETBP1):c.4290G>T (p.Val1430=) rs139896661
NM_015559.3(SETBP1):c.4297A>C (p.Ile1433Leu) rs2145592890
NM_015559.3(SETBP1):c.4306G>A (p.Ala1436Thr) rs1399358567
NM_015559.3(SETBP1):c.4324C>G (p.Gln1442Glu)
NM_015559.3(SETBP1):c.4337G>T (p.Gly1446Val) rs1336263465
NM_015559.3(SETBP1):c.4340A>G (p.Asn1447Ser)
NM_015559.3(SETBP1):c.434G>C (p.Gly145Ala)
NM_015559.3(SETBP1):c.4362C>T (p.Arg1454=)
NM_015559.3(SETBP1):c.4365G>A (p.Gly1455=)
NM_015559.3(SETBP1):c.4366C>G (p.Arg1456Gly)
NM_015559.3(SETBP1):c.4366C>T (p.Arg1456Cys) rs2145593228
NM_015559.3(SETBP1):c.4378C>G (p.Gln1460Glu) rs2145593296
NM_015559.3(SETBP1):c.4379A>G (p.Gln1460Arg)
NM_015559.3(SETBP1):c.4383C>T (p.Pro1461=)
NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His) rs1019850669
NM_015559.3(SETBP1):c.4393G>C (p.Asp1465His)
NM_015559.3(SETBP1):c.4393G>T (p.Asp1465Tyr)
NM_015559.3(SETBP1):c.4396G>A (p.Glu1466Lys)
NM_015559.3(SETBP1):c.4398G>C (p.Glu1466Asp)
NM_015559.3(SETBP1):c.4409del (p.Asp1470fs) rs2145593538
NM_015559.3(SETBP1):c.440dup (p.Asn147fs)
NM_015559.3(SETBP1):c.4421T>C (p.Val1474Ala)
NM_015559.3(SETBP1):c.4424T>C (p.Leu1475Pro)
NM_015559.3(SETBP1):c.442A>G (p.Ser148Gly)
NM_015559.3(SETBP1):c.4432T>G (p.Cys1478Gly) rs2145593674
NM_015559.3(SETBP1):c.4434C>T (p.Cys1478=)
NM_015559.3(SETBP1):c.4437C>G (p.Ile1479Met)
NM_015559.3(SETBP1):c.4441C>T (p.Leu1481=)
NM_015559.3(SETBP1):c.4443G>A (p.Leu1481=)
NM_015559.3(SETBP1):c.4445C>A (p.Pro1482His) rs2145593769
NM_015559.3(SETBP1):c.4454G>C (p.Arg1485Thr)
NM_015559.3(SETBP1):c.4458C>G (p.Gly1486=)
NM_015559.3(SETBP1):c.4471C>G (p.Leu1491Val)
NM_015559.3(SETBP1):c.4479G>A (p.Pro1493=) rs952484603
NM_015559.3(SETBP1):c.4479G>C (p.Pro1493=)
NM_015559.3(SETBP1):c.4489G>A (p.Glu1497Lys)
NM_015559.3(SETBP1):c.4495G>T (p.Ala1499Ser)
NM_015559.3(SETBP1):c.4498G>A (p.Ala1500Thr)
NM_015559.3(SETBP1):c.4498G>C (p.Ala1500Pro)
NM_015559.3(SETBP1):c.44G>T (p.Gly15Val)
NM_015559.3(SETBP1):c.44del (p.Gly15fs)
NM_015559.3(SETBP1):c.44dup (p.Glu16fs) rs1231303606
NM_015559.3(SETBP1):c.4519G>T (p.Ala1507Ser)
NM_015559.3(SETBP1):c.451A>G (p.Thr151Ala)
NM_015559.3(SETBP1):c.4521C>T (p.Ala1507=)
NM_015559.3(SETBP1):c.4524C>T (p.Thr1508=)
NM_015559.3(SETBP1):c.4531G>A (p.Ala1511Thr)
NM_015559.3(SETBP1):c.4533G>A (p.Ala1511=)
NM_015559.3(SETBP1):c.4534G>T (p.Val1512Phe) rs2145594193
NM_015559.3(SETBP1):c.4539C>A (p.Ile1513=)
NM_015559.3(SETBP1):c.453G>A (p.Thr151=)
NM_015559.3(SETBP1):c.4540C>T (p.His1514Tyr)
NM_015559.3(SETBP1):c.4550G>A (p.Arg1517Gln)
NM_015559.3(SETBP1):c.4556C>A (p.Ala1519Glu)
NM_015559.3(SETBP1):c.4556C>G (p.Ala1519Gly)
NM_015559.3(SETBP1):c.4556C>T (p.Ala1519Val)
NM_015559.3(SETBP1):c.4562C>T (p.Pro1521Leu)
NM_015559.3(SETBP1):c.4563C>A (p.Pro1521=)
NM_015559.3(SETBP1):c.4564dup (p.Leu1522fs) rs1568058926
NM_015559.3(SETBP1):c.4565T>C (p.Leu1522Pro)
NM_015559.3(SETBP1):c.4566G>A (p.Leu1522=) rs912711266
NM_015559.3(SETBP1):c.4566G>T (p.Leu1522=) rs912711266
NM_015559.3(SETBP1):c.4566_4567insGCCCCC (p.Leu1522_Pro1523insAlaPro) rs1568058955
NM_015559.3(SETBP1):c.4569C>G (p.Pro1523=)
NM_015559.3(SETBP1):c.4569_4592del (p.1520PPLPPPPP[2])
NM_015559.3(SETBP1):c.4571C>T (p.Pro1524Leu)
NM_015559.3(SETBP1):c.4572G>C (p.Pro1524=)
NM_015559.3(SETBP1):c.4572_4574dup (p.Pro1529dup) rs2145594596
NM_015559.3(SETBP1):c.4572_4578del (p.Pro1525fs) rs1568058985
NM_015559.3(SETBP1):c.4572_4581del (p.Pro1525fs) rs1568058991
NM_015559.3(SETBP1):c.4572_4584del (p.Pro1526fs) rs1568058996
NM_015559.3(SETBP1):c.4574C>T (p.Pro1525Leu)
NM_015559.3(SETBP1):c.4575A>C (p.Pro1525=)
NM_015559.3(SETBP1):c.4575A>G (p.Pro1525=)
NM_015559.3(SETBP1):c.4577C>A (p.Pro1526Gln)
NM_015559.3(SETBP1):c.4578G>A (p.Pro1526=)
NM_015559.3(SETBP1):c.4578GCC[2] (p.Pro1529del)
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu)
NM_015559.3(SETBP1):c.4584G>T (p.Pro1528=)
NM_015559.3(SETBP1):c.4584_4604dup (p.Pro1536_Pro1537insLeuProProProProProPro)
NM_015559.3(SETBP1):c.4587C>T (p.Pro1529=)
NM_015559.3(SETBP1):c.4587_4595del (p.Leu1530_Pro1532del) rs771849515
NM_015559.3(SETBP1):c.4587_4595dup (p.Leu1530_Pro1532dup) rs771849515
NM_015559.3(SETBP1):c.4589_4593del (p.Leu1530fs) rs1568059064
NM_015559.3(SETBP1):c.4589_4599del (p.Leu1530fs) rs1568059066
NM_015559.3(SETBP1):c.458A>T (p.Glu153Val)
NM_015559.3(SETBP1):c.4590GCCGCCACC[1] (p.Pro1535_Pro1537del) rs777582770
NM_015559.3(SETBP1):c.4592_4593insCCC (p.Pro1537dup) rs2145594993
NM_015559.3(SETBP1):c.4593G>T (p.Pro1531=)
NM_015559.3(SETBP1):c.4594C>A (p.Pro1532Thr)
NM_015559.3(SETBP1):c.4594C>T (p.Pro1532Ser)
NM_015559.3(SETBP1):c.4597_4598del (p.Pro1533fs) rs1568059107
NM_015559.3(SETBP1):c.4598C>T (p.Pro1533Leu) rs2073923280
NM_015559.3(SETBP1):c.4601C>T (p.Pro1534Leu)
NM_015559.3(SETBP1):c.4602G>A (p.Pro1534=)
NM_015559.3(SETBP1):c.4606C>T (p.Pro1536Ser)
NM_015559.3(SETBP1):c.4608A>C (p.Pro1536=)
NM_015559.3(SETBP1):c.4611C>T (p.Pro1537=)
NM_015559.3(SETBP1):c.4612del (p.Leu1538fs) rs1555651960
NM_015559.3(SETBP1):c.4614G>A (p.Leu1538=)
NM_015559.3(SETBP1):c.4616C>T (p.Pro1539Leu)
NM_015559.3(SETBP1):c.4617C>G (p.Pro1539=)
NM_015559.3(SETBP1):c.4620_4628del (p.Pro1541_Pro1543del) rs1382923155
NM_015559.3(SETBP1):c.4621C>A (p.Pro1541Thr) rs1160327714
NM_015559.3(SETBP1):c.4625C>A (p.Pro1542His)
NM_015559.3(SETBP1):c.4626C>A (p.Pro1542=)
NM_015559.3(SETBP1):c.4633C>G (p.Pro1545Ala) rs753471483
NM_015559.3(SETBP1):c.4634C>A (p.Pro1545His)
NM_015559.3(SETBP1):c.4637A>G (p.Lys1546Arg)
NM_015559.3(SETBP1):c.4640C>G (p.Thr1547Ser) rs201973930
NM_015559.3(SETBP1):c.4642C>T (p.Pro1548Ser)
NM_015559.3(SETBP1):c.4643C>A (p.Pro1548His)
NM_015559.3(SETBP1):c.4643C>G (p.Pro1548Arg) rs2073925873
NM_015559.3(SETBP1):c.4645del (p.Arg1549fs) rs1312164814
NM_015559.3(SETBP1):c.4645dup (p.Arg1549fs) rs1312164814
NM_015559.3(SETBP1):c.4646G>C (p.Arg1549Pro)
NM_015559.3(SETBP1):c.4647A>C (p.Arg1549=)
NM_015559.3(SETBP1):c.4648G>A (p.Gly1550Ser)
NM_015559.3(SETBP1):c.4650C>A (p.Gly1550=) rs1481422891
NM_015559.3(SETBP1):c.4651_4652inv (p.Gly1551Pro)
NM_015559.3(SETBP1):c.4655A>G (p.Lys1552Arg)
NM_015559.3(SETBP1):c.4676C>T (p.Ala1559Val)
NM_015559.3(SETBP1):c.4680C>G (p.Pro1560=)
NM_015559.3(SETBP1):c.4680dup (p.Ala1561fs)
NM_015559.3(SETBP1):c.4681G>C (p.Ala1561Pro) rs1356624472
NM_015559.3(SETBP1):c.4686G>A (p.Gln1562=) rs1446146501
NM_015559.3(SETBP1):c.4687C>A (p.Pro1563Thr) rs749462781
NM_015559.3(SETBP1):c.4691C>G (p.Pro1564Arg)
NM_015559.3(SETBP1):c.4691C>T (p.Pro1564Leu)
NM_015559.3(SETBP1):c.4696C>T (p.Gln1566Ter) rs2073927340
NM_015559.3(SETBP1):c.4701G>A (p.Ser1567=) rs2145596248
NM_015559.3(SETBP1):c.4707G>A (p.Pro1569=) rs2145596292
NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)
NM_015559.3(SETBP1):c.4713G>A (p.Gln1571=)
NM_015559.3(SETBP1):c.4713G>T (p.Gln1571His)
NM_015559.3(SETBP1):c.4714C>T (p.Pro1572Ser)
NM_015559.3(SETBP1):c.4715C>A (p.Pro1572His)
NM_015559.3(SETBP1):c.4717C>T (p.Leu1573Phe)
NM_015559.3(SETBP1):c.4722C>T (p.Pro1574=)
NM_015559.3(SETBP1):c.4723C>T (p.Gln1575Ter)
NM_015559.3(SETBP1):c.4727A>C (p.Glu1576Ala)
NM_015559.3(SETBP1):c.4731G>A (p.Glu1577=)
NM_015559.3(SETBP1):c.4732G>C (p.Glu1578Gln) rs2073928489
NM_015559.3(SETBP1):c.474C>T (p.His158=)
NM_015559.3(SETBP1):c.4752G>A (p.Gln1584=)
NM_015559.3(SETBP1):c.4758del (p.Lys1586fs)
NM_015559.3(SETBP1):c.475T>C (p.Ser159Pro)
NM_015559.3(SETBP1):c.4762C>G (p.Arg1588Gly)
NM_015559.3(SETBP1):c.4768A>T (p.Ser1590Cys) rs776334194
NM_015559.3(SETBP1):c.4769G>C (p.Ser1590Thr)
NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys) rs759235645
NM_015559.3(SETBP1):c.4775G>A (p.Ser1592Asn)
NM_015559.3(SETBP1):c.4776C>T (p.Ser1592=)
NM_015559.3(SETBP1):c.4777G>A (p.Glu1593Lys)
NM_015559.3(SETBP1):c.4782C>G (p.Val1594=)
NM_015559.3(SETBP1):c.4783C>G (p.Leu1595Val)
NM_015559.3(SETBP1):c.4787C>T (p.Pro1596Leu)
NM_015559.3(SETBP1):c.4788C>G (p.Pro1596=)
NM_015559.3(SETBP1):c.478A>G (p.Lys160Glu) rs2069121126
NM_015559.3(SETBP1):c.480A>G (p.Lys160=)
NM_015559.3(SETBP1):c.486+14T>C
NM_015559.3(SETBP1):c.486+1G>A
NM_015559.3(SETBP1):c.486+1G>T rs2144199518
NM_015559.3(SETBP1):c.486+200C>T rs75690771
NM_015559.3(SETBP1):c.486+3A>G
NM_015559.3(SETBP1):c.486+8G>A rs2069121389
NM_015559.3(SETBP1):c.487-12A>C
NM_015559.3(SETBP1):c.487-13T>C
NM_015559.3(SETBP1):c.487-13del rs776823732
NM_015559.3(SETBP1):c.487-211AG[4] rs201073205
NM_015559.3(SETBP1):c.487-2A>G rs2144680548
NM_015559.3(SETBP1):c.487-37392G>A rs9954058
NM_015559.3(SETBP1):c.487-37392G>C rs9954058
NM_015559.3(SETBP1):c.487-37393_487-37392delinsTC rs2144462248
NM_015559.3(SETBP1):c.487-4G>A
NM_015559.3(SETBP1):c.494C>T (p.Thr165Ile)
NM_015559.3(SETBP1):c.499A>G (p.Ser167Gly) rs1188369147
NM_015559.3(SETBP1):c.49T>C (p.Ser17Pro)
NM_015559.3(SETBP1):c.502G>A (p.Asp168Asn) rs765274297
NM_015559.3(SETBP1):c.507_521del (p.Ala170_Leu174del) rs759625131
NM_015559.3(SETBP1):c.514dup (p.Ser172fs)
NM_015559.3(SETBP1):c.515G>A (p.Ser172Asn)
NM_015559.3(SETBP1):c.516T>C (p.Ser172=)
NM_015559.3(SETBP1):c.519C>T (p.Asp173=)
NM_015559.3(SETBP1):c.526G>A (p.Gly176Arg)
NM_015559.3(SETBP1):c.527G>A (p.Gly176Glu)
NM_015559.3(SETBP1):c.539A>G (p.Gln180Arg)
NM_015559.3(SETBP1):c.540+12T>C
NM_015559.3(SETBP1):c.540+2dup
NM_015559.3(SETBP1):c.540+7444C>T
NM_015559.3(SETBP1):c.540+7467A>G
NM_015559.3(SETBP1):c.540+7T>C
NM_015559.3(SETBP1):c.540+9C>T
NM_015559.3(SETBP1):c.541-11C>A
NM_015559.3(SETBP1):c.541-14C>T
NM_015559.3(SETBP1):c.541-6C>T rs1191313263
NM_015559.3(SETBP1):c.541-7C>T
NM_015559.3(SETBP1):c.541-9C>T
NM_015559.3(SETBP1):c.547G>A (p.Glu183Lys)
NM_015559.3(SETBP1):c.547G>C (p.Glu183Gln)
NM_015559.3(SETBP1):c.548A>G (p.Glu183Gly)
NM_015559.3(SETBP1):c.552G>T (p.Arg184Ser) rs764526847
NM_015559.3(SETBP1):c.552_553delinsAT (p.Pro185Ser)
NM_015559.3(SETBP1):c.553C>T (p.Pro185Ser)
NM_015559.3(SETBP1):c.555C>G (p.Pro185=) rs2071295023
NM_015559.3(SETBP1):c.557A>G (p.Gln186Arg) rs751069486
NM_015559.3(SETBP1):c.558G>C (p.Gln186His)
NM_015559.3(SETBP1):c.55T>G (p.Phe19Val) rs2144195481
NM_015559.3(SETBP1):c.563A>T (p.His188Leu)
NM_015559.3(SETBP1):c.568A>G (p.Thr190Ala)
NM_015559.3(SETBP1):c.573C>T (p.Leu191=)
NM_015559.3(SETBP1):c.574C>T (p.His192Tyr)
NM_015559.3(SETBP1):c.583A>G (p.Thr195Ala)
NM_015559.3(SETBP1):c.584C>A (p.Thr195Lys)
NM_015559.3(SETBP1):c.585G>A (p.Thr195=)
NM_015559.3(SETBP1):c.585G>T (p.Thr195=)
NM_015559.3(SETBP1):c.586G>A (p.Gly196Ser) rs980862310
NM_015559.3(SETBP1):c.598G>A (p.Asp200Asn)
NM_015559.3(SETBP1):c.599A>T (p.Asp200Val) rs1283913787
NM_015559.3(SETBP1):c.59T>C (p.Leu20Pro) rs2144195501
NM_015559.3(SETBP1):c.608G>A (p.Gly203Asp)
NM_015559.3(SETBP1):c.608G>C (p.Gly203Ala)
NM_015559.3(SETBP1):c.612C>G (p.Asp204Glu)
NM_015559.3(SETBP1):c.617T>A (p.Leu206Ter)
NM_015559.3(SETBP1):c.620A>C (p.Lys207Thr)
NM_015559.3(SETBP1):c.621A>T (p.Lys207Asn)
NM_015559.3(SETBP1):c.625A>C (p.Lys209Gln)
NM_015559.3(SETBP1):c.626del (p.Lys209fs)
NM_015559.3(SETBP1):c.638A>C (p.Lys213Thr)
NM_015559.3(SETBP1):c.63G>A (p.Pro21=)
NM_015559.3(SETBP1):c.645C>T (p.Ser215=)
NM_015559.3(SETBP1):c.64G>A (p.Val22Ile)
NM_015559.3(SETBP1):c.651G>A (p.Gln217=)
NM_015559.3(SETBP1):c.652A>G (p.Asn218Asp)
NM_015559.3(SETBP1):c.654C>T (p.Asn218=)
NM_015559.3(SETBP1):c.655C>T (p.His219Tyr)
NM_015559.3(SETBP1):c.656A>G (p.His219Arg) rs764663303
NM_015559.3(SETBP1):c.658A>C (p.Met220Leu) rs2145092534
NM_015559.3(SETBP1):c.659T>C (p.Met220Thr)
NM_015559.3(SETBP1):c.660G>A (p.Met220Ile)
NM_015559.3(SETBP1):c.661G>A (p.Asp221Asn)
NM_015559.3(SETBP1):c.665G>T (p.Trp222Leu)
NM_015559.3(SETBP1):c.666G>A (p.Trp222Ter) rs1391600900
NM_015559.3(SETBP1):c.667T>A (p.Ser223Thr)
NM_015559.3(SETBP1):c.671C>G (p.Thr224Ser)
NM_015559.3(SETBP1):c.67T>C (p.Ser23Pro) rs2144195665
NM_015559.3(SETBP1):c.681C>G (p.Asp227Glu) rs2071300323
NM_015559.3(SETBP1):c.689C>A (p.Pro230His)
NM_015559.3(SETBP1):c.691G>A (p.Val231Ile) rs11082414
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414
NM_015559.3(SETBP1):c.695C>T (p.Thr232Ile) rs770504929
NM_015559.3(SETBP1):c.708C>A (p.Phe236Leu) rs1555705874
NM_015559.3(SETBP1):c.709A>T (p.Ile237Phe)
NM_015559.3(SETBP1):c.716C>G (p.Pro239Arg)
NM_015559.3(SETBP1):c.716C>T (p.Pro239Leu)
NM_015559.3(SETBP1):c.71C>T (p.Ser24Leu)
NM_015559.3(SETBP1):c.72A>C (p.Ser24=)
NM_015559.3(SETBP1):c.732A>C (p.Glu244Asp)
NM_015559.3(SETBP1):c.737C>T (p.Ala246Val)
NM_015559.3(SETBP1):c.750G>C (p.Lys250Asn)
NM_015559.3(SETBP1):c.752T>A (p.Ile251Asn) rs1230555044
NM_015559.3(SETBP1):c.754C>T (p.Pro252Ser)
NM_015559.3(SETBP1):c.757G>C (p.Ala253Pro)
NM_015559.3(SETBP1):c.757G>T (p.Ala253Ser)
NM_015559.3(SETBP1):c.762T>C (p.Leu254=)
NM_015559.3(SETBP1):c.764A>G (p.Glu255Gly) rs2145093347
NM_015559.3(SETBP1):c.768C>A (p.Pro256=)
NM_015559.3(SETBP1):c.769G>T (p.Val257Leu)
NM_015559.3(SETBP1):c.773C>G (p.Ala258Gly)
NM_015559.3(SETBP1):c.773C>T (p.Ala258Val)
NM_015559.3(SETBP1):c.781G>A (p.Ala261Thr)
NM_015559.3(SETBP1):c.788C>T (p.Ala263Val)
NM_015559.3(SETBP1):c.78G>A (p.Lys26=) rs1599006678
NM_015559.3(SETBP1):c.791A>G (p.Gln264Arg)
NM_015559.3(SETBP1):c.79C>T (p.Pro27Ser) rs751389887
NM_015559.3(SETBP1):c.801A>T (p.Lys267Asn)
NM_015559.3(SETBP1):c.807T>C (p.Ser269=)
NM_015559.3(SETBP1):c.80C>A (p.Pro27His)
NM_015559.3(SETBP1):c.80C>T (p.Pro27Leu)
NM_015559.3(SETBP1):c.811G>C (p.Gly271Arg)
NM_015559.3(SETBP1):c.813G>A (p.Gly271=)
NM_015559.3(SETBP1):c.818C>T (p.Thr273Met) rs748537549
NM_015559.3(SETBP1):c.819G>T (p.Thr273=)
NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter) rs1555705966
NM_015559.3(SETBP1):c.825_826delinsGG (p.Ser275_Gln276delinsArgGlu)
NM_015559.3(SETBP1):c.827A>G (p.Gln276Arg) rs2071305616
NM_015559.3(SETBP1):c.837C>G (p.Asn279Lys)
NM_015559.3(SETBP1):c.838A>T (p.Asn280Tyr)
NM_015559.3(SETBP1):c.83C>T (p.Pro28Leu)
NM_015559.3(SETBP1):c.846A>C (p.Lys282Asn) rs1568233537
NM_015559.3(SETBP1):c.84A>G (p.Pro28=)
NM_015559.3(SETBP1):c.855C>A (p.Leu285=)
NM_015559.3(SETBP1):c.862G>A (p.Gly288Ser) rs267605185
NM_015559.3(SETBP1):c.864T>C (p.Gly288=) rs2071307157
NM_015559.3(SETBP1):c.869C>T (p.Ala290Val)
NM_015559.3(SETBP1):c.86C>T (p.Ala29Val) rs1292543210
NM_015559.3(SETBP1):c.872C>T (p.Pro291Leu) rs1447661395
NM_015559.3(SETBP1):c.876C>A (p.Ser292=)
NM_015559.3(SETBP1):c.881G>A (p.Ser294Asn)
NM_015559.3(SETBP1):c.885C>A (p.Ser295Arg)
NM_015559.3(SETBP1):c.885C>T (p.Ser295=)
NM_015559.3(SETBP1):c.889A>G (p.Ser297Gly)
NM_015559.3(SETBP1):c.894A>T (p.Ser298=)
NM_015559.3(SETBP1):c.895C>T (p.Pro299Ser)
NM_015559.3(SETBP1):c.901C>T (p.Pro301Ser)
NM_015559.3(SETBP1):c.904C>G (p.Pro302Ala)
NM_015559.3(SETBP1):c.909C>A (p.Ser303Arg)
NM_015559.3(SETBP1):c.913T>A (p.Ser305Thr) rs2145094436
NM_015559.3(SETBP1):c.923G>A (p.Cys308Tyr)
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys) rs199603131
NM_015559.3(SETBP1):c.928G>C (p.Gly310Arg) rs1425063196
NM_015559.3(SETBP1):c.934C>T (p.Gln312Ter) rs2145094562
NM_015559.3(SETBP1):c.938C>T (p.Pro313Leu)
NM_015559.3(SETBP1):c.948T>A (p.Asp316Glu)
NM_015559.3(SETBP1):c.961G>A (p.Gly321Ser)
NM_015559.3(SETBP1):c.961G>C (p.Gly321Arg) rs2040643241
NM_015559.3(SETBP1):c.96C>G (p.Gly32=)
NM_015559.3(SETBP1):c.970G>C (p.Glu324Gln) rs2071310485
NM_015559.3(SETBP1):c.973C>A (p.Pro325Thr) rs2071310564
NM_015559.3(SETBP1):c.983C>A (p.Pro328Gln)
NM_015559.3(SETBP1):c.99T>C (p.Cys33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.