NM_001172509.2(SATB2):c.170-76T>C
|
rs7596597
|
0.93948
|
NM_001172509.2(SATB2):c.1543-4A>C
|
rs10153730
|
0.93908
|
NM_001172509.2(SATB2):c.1740+171A>G
|
rs3748904
|
0.78410
|
NM_001172509.2(SATB2):c.474-35G>C
|
rs1348813
|
0.63041
|
NM_001172509.2(SATB2):c.473+99G>A
|
rs2305262
|
0.27757
|
NM_001172509.2(SATB2):c.1542+295G>A
|
rs2011269
|
0.17979
|
NM_001172509.2(SATB2):c.-59-231C>T
|
rs13014796
|
0.13657
|
NM_001172509.2(SATB2):c.347-200A>G
|
rs79303419
|
0.03310
|
NM_001172509.2(SATB2):c.1173+260G>C
|
rs13387985
|
0.03231
|
NM_001172509.2(SATB2):c.597+170T>C
|
rs72931316
|
0.03209
|
NM_001172509.2(SATB2):c.1543-119G>A
|
rs16831258
|
0.01845
|
NM_001172509.2(SATB2):c.1740+197G>A
|
rs78338033
|
0.01578
|
NM_001172509.2(SATB2):c.1543-218A>C
|
rs114467079
|
0.00959
|
NM_001172509.2(SATB2):c.1740+126A>C
|
rs114301127
|
0.00763
|
NM_001172509.2(SATB2):c.701-208T>C
|
rs79248084
|
0.00687
|
NM_001172509.2(SATB2):c.1173+278C>G
|
rs150912592
|
0.00615
|
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=)
|
rs149056216
|
0.00109
|
NM_001172509.2(SATB2):c.210C>T (p.Asp70=)
|
rs34311963
|
0.00070
|
NM_001172509.2(SATB2):c.195C>T (p.Val65=)
|
rs147613731
|
0.00065
|
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=)
|
rs148055910
|
0.00035
|
NM_001172509.2(SATB2):c.1257G>A (p.Gln419=)
|
rs367947535
|
0.00029
|
NM_001172509.2(SATB2):c.333G>C (p.Ala111=)
|
rs140116634
|
0.00024
|
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=)
|
rs150824088
|
0.00019
|
NM_001172509.2(SATB2):c.1572G>A (p.Lys524=)
|
rs376557576
|
0.00015
|
NM_001172509.2(SATB2):c.405C>T (p.Pro135=)
|
rs150990155
|
0.00014
|
NM_001172509.2(SATB2):c.585C>T (p.Cys195=)
|
rs376383948
|
0.00014
|
NM_001172509.2(SATB2):c.1173+6A>G
|
rs747745210
|
0.00012
|
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr)
|
rs142825652
|
0.00012
|
NM_001172509.2(SATB2):c.1173+5A>G
|
rs569655648
|
0.00010
|
NM_001172509.2(SATB2):c.306G>A (p.Leu102=)
|
rs201405384
|
0.00008
|
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)
|
rs12619995
|
0.00006
|
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=)
|
rs370291268
|
0.00004
|
NM_001172509.2(SATB2):c.42C>G (p.Pro14=)
|
rs773072163
|
0.00004
|
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=)
|
rs377059710
|
0.00003
|
NM_001172509.2(SATB2):c.1551G>T (p.Leu517=)
|
rs760937399
|
0.00003
|
NM_001172509.2(SATB2):c.163G>C (p.Val55Leu)
|
rs748892556
|
0.00003
|
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile)
|
rs1201673032
|
0.00003
|
NM_001172509.2(SATB2):c.1239A>G (p.Val413=)
|
rs148608261
|
0.00002
|
NM_001172509.2(SATB2):c.756A>G (p.Pro252=)
|
rs375364851
|
0.00002
|
NM_001172509.2(SATB2):c.846C>T (p.Ile282=)
|
rs373578751
|
0.00002
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
NM_001172509.2(SATB2):c.155C>T (p.Ala52Val)
|
rs1357016064
|
0.00001
|
NM_001172509.2(SATB2):c.170-8C>T
|
rs771945626
|
0.00001
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys)
|
rs372822699
|
0.00001
|
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)
|
rs746240750
|
0.00001
|
NM_001172509.2(SATB2):c.531T>C (p.Asn177=)
|
rs768204353
|
0.00001
|
NM_001172509.2(SATB2):c.894T>A (p.Leu298=)
|
rs199530574
|
0.00001
|
GRCh37/hg19 2q33.1(chr2:199994308-200599890)x1
|
|
|
GRCh37/hg19 2q33.1(chr2:200055323-200279449)x3
|
|
|
GRCh37/hg19 2q33.1(chr2:200154449-200255711)x1
|
|
|
GRCh37/hg19 2q33.1(chr2:200221989-200268498)x1
|
|
|
GRCh37/hg19 2q33.1(chr2:200245985-200406185)x1
|
|
|
NM_001172509.2(SATB2):c.101T>A (p.Leu34Gln)
|
|
|
NM_001172509.2(SATB2):c.1062_1067del (p.Asn355_Ser356del)
|
rs2105822995
|
|
NM_001172509.2(SATB2):c.1085C>A (p.Pro362Gln)
|
rs2105822933
|
|
NM_001172509.2(SATB2):c.1144T>C (p.Phe382Leu)
|
rs2105822855
|
|
NM_001172509.2(SATB2):c.1148del (p.Ala383fs)
|
rs1688726478
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001172509.2(SATB2):c.1173+301G>C
|
rs10153573
|
|
NM_001172509.2(SATB2):c.1175G>A (p.Gly392Glu)
|
rs1085308028
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1196G>T (p.Arg399Leu)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1225C>T (p.Gln409Ter)
|
rs1688106559
|
|
NM_001172509.2(SATB2):c.124G>T (p.Gly42Ter)
|
rs1064793947
|
|
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg)
|
rs1553547885
|
|
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)
|
rs886041847
|
|
NM_001172509.2(SATB2):c.1302G>A (p.Gln434=)
|
|
|
NM_001172509.2(SATB2):c.1327_1330dup (p.Asn444fs)
|
|
|
NM_001172509.2(SATB2):c.1341G>C (p.Met447Ile)
|
rs1574510768
|
|
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe)
|
rs1323623166
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1376G>T (p.Arg459Leu)
|
rs2105795190
|
|
NM_001172509.2(SATB2):c.1393dup (p.Thr465fs)
|
rs1553547055
|
|
NM_001172509.2(SATB2):c.1462T>A (p.Tyr488Asn)
|
|
|
NM_001172509.2(SATB2):c.1474C>T (p.Gln492Ter)
|
rs2105789154
|
|
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val)
|
rs1057524205
|
|
NM_001172509.2(SATB2):c.1515_1516insA (p.Ala506fs)
|
rs1553546975
|
|
NM_001172509.2(SATB2):c.1515del (p.Phe505fs)
|
rs886039740
|
|
NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTG
|
rs372830951
|
|
NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTGTG
|
rs372830951
|
|
NM_001172509.2(SATB2):c.1542+294_1542+295insTATG
|
rs372830951
|
|
NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTG
|
rs372830951
|
|
NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTGTG
|
rs372830951
|
|
NM_001172509.2(SATB2):c.1544G>A (p.Gly515Asp)
|
rs2105769270
|
|
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)
|
rs1223371144
|
|
NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)
|
|
|
NM_001172509.2(SATB2):c.1590A>C (p.Glu530Asp)
|
|
|
NM_001172509.2(SATB2):c.1593C>A (p.Asn531Lys)
|
rs1687516101
|
|
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)
|
rs2105769188
|
|
NM_001172509.2(SATB2):c.1609A>G (p.Asn537Asp)
|
|
|
NM_001172509.2(SATB2):c.163del (p.Val55fs)
|
rs1574645299
|
|
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)
|
rs1553544133
|
|
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)
|
rs1064795530
|
|
NM_001172509.2(SATB2):c.185T>A (p.Val62Asp)
|
rs1064796649
|
|
NM_001172509.2(SATB2):c.19dup (p.Ser7fs)
|
rs1553507389
|
|
NM_001172509.2(SATB2):c.1A>G (p.Met1Val)
|
rs1553507391
|
|
NM_001172509.2(SATB2):c.201G>A (p.Glu67=)
|
rs924915744
|
|
NM_001172509.2(SATB2):c.236A>G (p.Glu79Gly)
|
|
|
NM_001172509.2(SATB2):c.23C>A (p.Pro8Gln)
|
rs2105957352
|
|
NM_001172509.2(SATB2):c.246C>T (p.Ala82=)
|
rs146889022
|
|
NM_001172509.2(SATB2):c.287T>G (p.Leu96Arg)
|
rs1064795247
|
|
NM_001172509.2(SATB2):c.300G>A (p.Ala100=)
|
|
|
NM_001172509.2(SATB2):c.305del (p.Leu102fs)
|
rs1553504273
|
|
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
|
|
|
NM_001172509.2(SATB2):c.337C>T (p.Gln113Ter)
|
rs1559052053
|
|
NM_001172509.2(SATB2):c.346G>C (p.Gly116Arg)
|
rs1131691672
|
|
NM_001172509.2(SATB2):c.366G>T (p.Arg122Ser)
|
|
|
NM_001172509.2(SATB2):c.369del (p.Arg122_Trp123insTer)
|
rs1553496413
|
|
NM_001172509.2(SATB2):c.373C>T (p.Pro125Ser)
|
|
|
NM_001172509.2(SATB2):c.392T>A (p.Val131Glu)
|
rs1064794638
|
|
NM_001172509.2(SATB2):c.416T>C (p.Val139Ala)
|
rs1689783884
|
|
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)
|
rs764205432
|
|
NM_001172509.2(SATB2):c.446T>C (p.Val149Ala)
|
rs765278258
|
|
NM_001172509.2(SATB2):c.46C>A (p.Arg16=)
|
rs937799874
|
|
NM_001172509.2(SATB2):c.473+1del
|
rs1553496358
|
|
NM_001172509.2(SATB2):c.482del (p.Lys161fs)
|
rs1064793820
|
|
NM_001172509.2(SATB2):c.509G>A (p.Trp170Ter)
|
rs2105865970
|
|
NM_001172509.2(SATB2):c.545T>C (p.Leu182Pro)
|
rs1064795817
|
|
NM_001172509.2(SATB2):c.550A>T (p.Lys184Ter)
|
rs1689734840
|
|
NM_001172509.2(SATB2):c.553G>T (p.Glu185Ter)
|
rs1689734633
|
|
NM_001172509.2(SATB2):c.568dup (p.Thr190fs)
|
rs1553496051
|
|
NM_001172509.2(SATB2):c.575C>T (p.Ala192Val)
|
rs2105865837
|
|
NM_001172509.2(SATB2):c.578A>G (p.Lys193Arg)
|
rs2105865829
|
|
NM_001172509.2(SATB2):c.594C>A (p.Ser198=)
|
rs747345430
|
|
NM_001172509.2(SATB2):c.652A>T (p.Lys218Ter)
|
rs1689357139
|
|
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter)
|
rs1553493553
|
|
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
|
|
|
NM_001172509.2(SATB2):c.701-12A>C
|
rs116585116
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001172509.2(SATB2):c.722dup (p.Asn241fs)
|
rs1688740919
|
|
NM_001172509.2(SATB2):c.752G>A (p.Arg251His)
|
rs2105823583
|
|
NM_001172509.2(SATB2):c.797A>G (p.Lys266Arg)
|
rs1364150345
|
|
NM_001172509.2(SATB2):c.83del (p.Pro28fs)
|
rs886041685
|
|
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala)
|
rs752392251
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001172509.2(SATB2):c.853C>T (p.Gln285Ter)
|
rs1559175170
|
|
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter)
|
rs1057518496
|
|
NM_001172509.2(SATB2):c.895del (p.Ser299fs)
|
rs1553551647
|
|
NM_001172509.2(SATB2):c.911C>G (p.Pro304Arg)
|
|
|
NM_001172509.2(SATB2):c.978C>A (p.Leu326=)
|
|
|
NM_001172509.2(SATB2):c.997C>T (p.Gln333Ter)
|
rs1424984467
|
|
Single allele
|
|
|