NM_001172509.2(SATB2):c.1543-4A>C
|
rs10153730
|
0.93908
|
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.1386+18C>T
|
rs199984701
|
0.00029
|
NM_001172509.2(SATB2):c.151G>A (p.Val51Met)
|
rs540871216
|
0.00025
|
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.1386+19G>A
|
rs374300066
|
0.00018
|
NM_001172509.2(SATB2):c.1740+12C>T
|
rs201101830
|
0.00016
|
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.381C>A (p.Pro127=)
|
rs746473092
|
0.00013
|
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.1248G>A (p.Arg416=)
|
rs371524081
|
0.00009
|
NM_001172509.2(SATB2):c.1740+20G>A
|
rs375950005
|
0.00008
|
NM_001172509.2(SATB2):c.306G>A (p.Leu102=)
|
rs201405384
|
0.00008
|
NM_001172509.2(SATB2):c.1387-6T>C
|
rs769072507
|
0.00007
|
NM_001172509.2(SATB2):c.1174-18T>A
|
rs1194654045
|
0.00006
|
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)
|
rs12619995
|
0.00006
|
NM_001172509.2(SATB2):c.1173+4C>A
|
rs376920785
|
0.00005
|
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=)
|
rs771044415
|
0.00004
|
NM_001172509.2(SATB2):c.1335G>A (p.Val445=)
|
rs547239131
|
0.00004
|
NM_001172509.2(SATB2):c.1387-4G>T
|
rs749603983
|
0.00004
|
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=)
|
rs370291268
|
0.00004
|
NM_001172509.2(SATB2):c.1530A>G (p.Ala510=)
|
rs377035208
|
0.00004
|
NM_001172509.2(SATB2):c.169+11G>T
|
rs779817342
|
0.00004
|
NM_001172509.2(SATB2):c.1740+19C>T
|
rs757980261
|
0.00004
|
NM_001172509.2(SATB2):c.219T>G (p.Leu73=)
|
rs150919931
|
0.00004
|
NM_001172509.2(SATB2):c.408C>T (p.Asp136=)
|
rs756417252
|
0.00004
|
NM_001172509.2(SATB2):c.420C>T (p.Ala140=)
|
rs202223477
|
0.00004
|
NM_001172509.2(SATB2):c.42C>G (p.Pro14=)
|
rs773072163
|
0.00004
|
NM_001172509.2(SATB2):c.453G>A (p.Thr151=)
|
rs973674250
|
0.00004
|
NM_001172509.2(SATB2):c.1174-6A>T
|
rs368537092
|
0.00003
|
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=)
|
rs767544833
|
0.00003
|
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=)
|
rs377059710
|
0.00003
|
NM_001172509.2(SATB2):c.1435G>A (p.Ala479Thr)
|
rs772617927
|
0.00003
|
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser)
|
rs201864116
|
0.00003
|
NM_001172509.2(SATB2):c.1542+13T>A
|
rs1046713591
|
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.172T>C (p.Leu58=)
|
rs761710516
|
0.00003
|
NM_001172509.2(SATB2):c.243C>T (p.His81=)
|
rs372121244
|
0.00003
|
NM_001172509.2(SATB2):c.45C>T (p.Asp15=)
|
rs771997100
|
0.00003
|
NM_001172509.2(SATB2):c.700+6C>T
|
rs755400212
|
0.00003
|
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala)
|
rs764552856
|
0.00002
|
NM_001172509.2(SATB2):c.1212T>C (p.Pro404=)
|
rs1486060390
|
0.00002
|
NM_001172509.2(SATB2):c.121A>G (p.Met41Val)
|
rs919635073
|
0.00002
|
NM_001172509.2(SATB2):c.1239A>G (p.Val413=)
|
rs148608261
|
0.00002
|
NM_001172509.2(SATB2):c.1404G>A (p.Pro468=)
|
rs542911998
|
0.00002
|
NM_001172509.2(SATB2):c.1509C>T (p.Ala503=)
|
rs771083610
|
0.00002
|
NM_001172509.2(SATB2):c.1543-20G>A
|
rs776839849
|
0.00002
|
NM_001172509.2(SATB2):c.1740+16C>T
|
rs777264256
|
0.00002
|
NM_001172509.2(SATB2):c.1740+9C>T
|
rs745695602
|
0.00002
|
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser)
|
rs756865617
|
0.00002
|
NM_001172509.2(SATB2):c.381C>T (p.Pro127=)
|
rs746473092
|
0.00002
|
NM_001172509.2(SATB2):c.411G>A (p.Ala137=)
|
rs781353036
|
0.00002
|
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser)
|
rs1333077167
|
0.00002
|
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr)
|
rs773467832
|
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.915A>G (p.Gln305=)
|
rs1440871358
|
0.00002
|
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr)
|
rs754385480
|
0.00001
|
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met)
|
rs765504446
|
0.00001
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
NM_001172509.2(SATB2):c.1320C>T (p.Ser440=)
|
rs770384540
|
0.00001
|
NM_001172509.2(SATB2):c.1322T>C (p.Met441Thr)
|
rs1294387707
|
0.00001
|
NM_001172509.2(SATB2):c.1379C>A (p.Thr460Asn)
|
rs1329250891
|
0.00001
|
NM_001172509.2(SATB2):c.1380C>T (p.Thr460=)
|
rs996522781
|
0.00001
|
NM_001172509.2(SATB2):c.1386+13C>T
|
rs1403696762
|
0.00001
|
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)
|
rs780366664
|
0.00001
|
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr)
|
rs770212471
|
0.00001
|
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu)
|
rs746076990
|
0.00001
|
NM_001172509.2(SATB2):c.1428G>A (p.Val476=)
|
rs753471227
|
0.00001
|
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser)
|
rs1302645769
|
0.00001
|
NM_001172509.2(SATB2):c.1447A>G (p.Ile483Val)
|
rs1367720345
|
0.00001
|
NM_001172509.2(SATB2):c.1543-10C>G
|
rs747190227
|
0.00001
|
NM_001172509.2(SATB2):c.1543-6C>G
|
rs1328592029
|
0.00001
|
NM_001172509.2(SATB2):c.156C>T (p.Ala52=)
|
rs1401683566
|
0.00001
|
NM_001172509.2(SATB2):c.1624C>T (p.Arg542Cys)
|
rs767163210
|
0.00001
|
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys)
|
rs756719862
|
0.00001
|
NM_001172509.2(SATB2):c.1656G>A (p.Arg552=)
|
rs763647963
|
0.00001
|
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp)
|
rs377609161
|
0.00001
|
NM_001172509.2(SATB2):c.169+7G>A
|
rs1038173269
|
0.00001
|
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)
|
rs1042085577
|
0.00001
|
NM_001172509.2(SATB2):c.1734G>A (p.Pro578=)
|
rs937895148
|
0.00001
|
NM_001172509.2(SATB2):c.223T>C (p.Tyr75His)
|
rs760905348
|
0.00001
|
NM_001172509.2(SATB2):c.267A>G (p.Lys89=)
|
rs991579763
|
0.00001
|
NM_001172509.2(SATB2):c.303C>G (p.Leu101=)
|
rs770551232
|
0.00001
|
NM_001172509.2(SATB2):c.33G>A (p.Arg11=)
|
rs1361297597
|
0.00001
|
NM_001172509.2(SATB2):c.342C>A (p.Ala114=)
|
rs756540212
|
0.00001
|
NM_001172509.2(SATB2):c.346+15C>T
|
rs1389213053
|
0.00001
|
NM_001172509.2(SATB2):c.372C>T (p.Asn124=)
|
rs770710917
|
0.00001
|
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys)
|
rs372822699
|
0.00001
|
NM_001172509.2(SATB2):c.391G>C (p.Val131Leu)
|
rs1689785051
|
0.00001
|
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)
|
rs746240750
|
0.00001
|
NM_001172509.2(SATB2):c.441T>C (p.Tyr147=)
|
rs367590994
|
0.00001
|
NM_001172509.2(SATB2):c.454T>C (p.Leu152=)
|
rs759337821
|
0.00001
|
NM_001172509.2(SATB2):c.474-16T>C
|
rs754983790
|
0.00001
|
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg)
|
rs1360355424
|
0.00001
|
NM_001172509.2(SATB2):c.501G>A (p.Ala167=)
|
rs761351033
|
0.00001
|
NM_001172509.2(SATB2):c.531T>C (p.Asn177=)
|
rs768204353
|
0.00001
|
NM_001172509.2(SATB2):c.588T>C (p.Pro196=)
|
rs1689733456
|
0.00001
|
NM_001172509.2(SATB2):c.597+4A>G
|
rs777983427
|
0.00001
|
NM_001172509.2(SATB2):c.598-10T>C
|
rs995048972
|
0.00001
|
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser)
|
rs1371535617
|
0.00001
|
NM_001172509.2(SATB2):c.639T>C (p.Asn213=)
|
rs1409791746
|
0.00001
|
NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile)
|
rs777062011
|
0.00001
|
NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg)
|
rs1176416627
|
0.00001
|
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu)
|
rs766855879
|
0.00001
|
NM_001172509.2(SATB2):c.739G>A (p.Val247Ile)
|
rs767767817
|
0.00001
|
NM_001172509.2(SATB2):c.743T>G (p.Leu248Arg)
|
rs200620268
|
0.00001
|
NM_001172509.2(SATB2):c.76C>G (p.Pro26Ala)
|
rs1473042227
|
0.00001
|
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys)
|
rs1000649173
|
0.00001
|
NM_001172509.2(SATB2):c.772A>G (p.Met258Val)
|
rs200074373
|
0.00001
|
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala)
|
rs1410113037
|
0.00001
|
NM_001172509.2(SATB2):c.804C>T (p.Asn268=)
|
rs760068691
|
0.00001
|
NM_001172509.2(SATB2):c.894T>A (p.Leu298=)
|
rs199530574
|
0.00001
|
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr)
|
rs1461281024
|
0.00001
|
NC_000002.11:g.(?_200136914)_(200298257_?)dup
|
|
|
NC_000002.11:g.(?_200136914)_(200320780_?)del
|
|
|
NC_000002.11:g.(?_200136934)_(200246563_?)dup
|
|
|
NC_000002.11:g.(?_200136934)_(200320760_?)dup
|
|
|
NC_000002.11:g.(?_200173463)_(200320760_?)del
|
|
|
NC_000002.11:g.(?_200173463)_(200320780_?)dup
|
|
|
NC_000002.11:g.(?_200213424)_(200246543_?)dup
|
|
|
NC_000002.11:g.(?_200245067)_(200320760_?)dup
|
|
|
NC_000002.11:g.(?_200320572)_(200320780_?)dup
|
|
|
NC_000002.12:g.(?_199348681)_(199433534_?)del
|
|
|
NC_000002.12:g.(?_199380344)_(199433534_?)dup
|
|
|
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
|
|
|
NM_001172509.2(SATB2):c.1005C>T (p.Ile335=)
|
rs2105823089
|
|
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
|
|
|
NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)
|
|
|
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
|
|
|
NM_001172509.2(SATB2):c.1053A>G (p.Pro351=)
|
|
|
NM_001172509.2(SATB2):c.1059A>C (p.Pro353=)
|
rs1277703220
|
|
NM_001172509.2(SATB2):c.1064A>C (p.Asn355Thr)
|
rs1283962528
|
|
NM_001172509.2(SATB2):c.1074G>T (p.Val358=)
|
|
|
NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)
|
|
|
NM_001172509.2(SATB2):c.1082C>T (p.Ser361Phe)
|
|
|
NM_001172509.2(SATB2):c.108G>C (p.Gln36His)
|
|
|
NM_001172509.2(SATB2):c.1118A>G (p.Lys373Arg)
|
|
|
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile)
|
rs1688727085
|
|
NM_001172509.2(SATB2):c.1128T>C (p.Ser376=)
|
rs776791250
|
|
NM_001172509.2(SATB2):c.112G>T (p.Gly38Cys)
|
rs1458922428
|
|
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu)
|
rs1247886882
|
|
NM_001172509.2(SATB2):c.1173+10G>A
|
|
|
NM_001172509.2(SATB2):c.1173+8T>A
|
rs2105822763
|
|
NM_001172509.2(SATB2):c.1174-12C>G
|
|
|
NM_001172509.2(SATB2):c.1174-13C>A
|
|
|
NM_001172509.2(SATB2):c.1174-16del
|
rs555268633
|
|
NM_001172509.2(SATB2):c.1174-16dup
|
|
|
NM_001172509.2(SATB2):c.1174-18T>C
|
|
|
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
|
|
|
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
|
|
|
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly)
|
rs1688108235
|
|
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
|
|
|
NM_001172509.2(SATB2):c.118C>G (p.Pro40Ala)
|
rs1191904885
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=)
|
rs1574511020
|
|
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
|
|
|
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
|
|
|
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
|
|
|
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys)
|
rs1341868380
|
|
NM_001172509.2(SATB2):c.1252A>G (p.Met418Val)
|
rs1574510913
|
|
NM_001172509.2(SATB2):c.1276_1277inv (p.Glu426Ser)
|
|
|
NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp)
|
rs775219160
|
|
NM_001172509.2(SATB2):c.1279G>T (p.Val427Leu)
|
rs1306994967
|
|
NM_001172509.2(SATB2):c.1280T>C (p.Val427Ala)
|
rs2105795391
|
|
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)
|
rs886041847
|
|
NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)
|
|
|
NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)
|
|
|
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
|
|
|
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
|
|
|
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs)
|
rs1688101934
|
|
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
|
|
|
NM_001172509.2(SATB2):c.1332T>C (p.Asn444=)
|
rs955130914
|
|
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe)
|
rs1323623166
|
|
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
|
|
|
NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)
|
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1387-10C>T
|
rs1574506260
|
|
NM_001172509.2(SATB2):c.1387-27ATT[2]
|
|
|
NM_001172509.2(SATB2):c.1389C>T (p.Ala463=)
|
|
|
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
|
|
|
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr)
|
rs1402503767
|
|
NM_001172509.2(SATB2):c.1401A>G (p.Thr467=)
|
|
|
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
|
|
|
NM_001172509.2(SATB2):c.1407A>G (p.Thr469=)
|
rs373031055
|
|
NM_001172509.2(SATB2):c.1407A>T (p.Thr469=)
|
rs373031055
|
|
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu)
|
rs1692259118
|
|
NM_001172509.2(SATB2):c.1410A>G (p.Thr470=)
|
rs2105789287
|
|
NM_001172509.2(SATB2):c.1413C>T (p.Asp471=)
|
|
|
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val)
|
rs765116524
|
|
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
|
|
|
NM_001172509.2(SATB2):c.1431C>T (p.Asp477=)
|
rs765952558
|
|
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser)
|
rs1043250716
|
|
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
|
|
|
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val)
|
rs1559161533
|
|
NM_001172509.2(SATB2):c.1443C>T (p.Ile481=)
|
|
|
NM_001172509.2(SATB2):c.1452A>G (p.Thr484=)
|
rs2105789191
|
|
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
|
|
|
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
|
|
|
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
|
|
|
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val)
|
rs1057524205
|
|
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
|
|
|
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
|
|
|
NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)
|
|
|
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
|
|
|
NM_001172509.2(SATB2):c.1503T>C (p.Ser501=)
|
|
|
NM_001172509.2(SATB2):c.150C>G (p.Ala50=)
|
rs778660613
|
|
NM_001172509.2(SATB2):c.150C>T (p.Ala50=)
|
rs778660613
|
|
NM_001172509.2(SATB2):c.1524G>C (p.Val508=)
|
rs1574506012
|
|
NM_001172509.2(SATB2):c.1542+18A>C
|
rs1687956913
|
|
NM_001172509.2(SATB2):c.1542+9T>C
|
rs1306705746
|
|
NM_001172509.2(SATB2):c.1543-18G>A
|
|
|
NM_001172509.2(SATB2):c.1543-19C>T
|
|
|
NM_001172509.2(SATB2):c.1551G>A (p.Leu517=)
|
rs760937399
|
|
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
|
|
|
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
|
|
|
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile)
|
rs2105769212
|
|
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs)
|
rs1553544158
|
|
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)
|
rs2105769188
|
|
NM_001172509.2(SATB2):c.1595G>A (p.Arg532His)
|
rs1574492405
|
|
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
|
|
|
NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)
|
|
|
NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe)
|
rs2105769179
|
|
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His)
|
rs2105769137
|
|
NM_001172509.2(SATB2):c.162C>T (p.Ala54=)
|
rs2105957105
|
|
NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)
|
|
|
NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)
|
|
|
NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)
|
|
|
NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)
|
|
|
NM_001172509.2(SATB2):c.1662C>T (p.Val554=)
|
|
|
NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)
|
|
|
NM_001172509.2(SATB2):c.169+14G>A
|
|
|
NM_001172509.2(SATB2):c.169+9C>T
|
|
|
NM_001172509.2(SATB2):c.1695C>T (p.Ser565=)
|
rs1687513099
|
|
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)
|
rs1064795530
|
|
NM_001172509.2(SATB2):c.170-11T>C
|
|
|
NM_001172509.2(SATB2):c.170-17G>T
|
|
|
NM_001172509.2(SATB2):c.170-2A>G
|
|
|
NM_001172509.2(SATB2):c.1701C>T (p.Arg567=)
|
rs2105768987
|
|
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
|
|
|
NM_001172509.2(SATB2):c.1710C>T (p.His570=)
|
rs764708410
|
|
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met)
|
rs188013011
|
|
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
|
|
|
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
|
|
|
NM_001172509.2(SATB2):c.1728T>C (p.Pro576=)
|
rs1452404773
|
|
NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)
|
|
|
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
|
|
|
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
|
|
|
NM_001172509.2(SATB2):c.1740+11C>T
|
|
|
NM_001172509.2(SATB2):c.1740+13G>A
|
|
|
NM_001172509.2(SATB2):c.1740+16C>A
|
|
|
NM_001172509.2(SATB2):c.1740+17G>A
|
|
|
NM_001172509.2(SATB2):c.1740+20_1740+29del
|
rs749467784
|
|
NM_001172509.2(SATB2):c.1740+8T>C
|
rs2105768843
|
|
NM_001172509.2(SATB2):c.201G>A (p.Glu67=)
|
rs924915744
|
|
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
|
|
|
NM_001172509.2(SATB2):c.204G>A (p.Gln68=)
|
rs2105929040
|
|
NM_001172509.2(SATB2):c.205T>C (p.Leu69=)
|
rs745323861
|
|
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
|
|
|
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
|
|
|
NM_001172509.2(SATB2):c.225T>C (p.Tyr75=)
|
rs1357010510
|
|
NM_001172509.2(SATB2):c.232A>C (p.Arg78=)
|
|
|
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys)
|
rs767582582
|
|
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
|
|
|
NM_001172509.2(SATB2):c.246C>T (p.Ala82=)
|
rs146889022
|
|
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln)
|
rs530118484
|
|
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
|
|
|
NM_001172509.2(SATB2):c.273G>A (p.Val91=)
|
|
|
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
|
|
|
NM_001172509.2(SATB2):c.282C>T (p.Ser94=)
|
|
|
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs)
|
rs2105928888
|
|
NM_001172509.2(SATB2):c.297T>C (p.Thr99=)
|
rs2105928877
|
|
NM_001172509.2(SATB2):c.304C>T (p.Leu102=)
|
rs1574625153
|
|
NM_001172509.2(SATB2):c.318T>C (p.Tyr106=)
|
rs1330378388
|
|
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter)
|
rs1330378388
|
|
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
|
|
|
NM_001172509.2(SATB2):c.333G>A (p.Ala111=)
|
rs140116634
|
|
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu)
|
rs1559052032
|
|
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)
|
rs1559052032
|
|
NM_001172509.2(SATB2):c.346+11C>T
|
|
|
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
|
|
|
NM_001172509.2(SATB2):c.346+18C>A
|
|
|
NM_001172509.2(SATB2):c.346+1G>A
|
rs2105928782
|
|
NM_001172509.2(SATB2):c.346+2T>A
|
rs1559052017
|
|
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
|
|
|
NM_001172509.2(SATB2):c.347-20T>C
|
rs1309984102
|
|
NM_001172509.2(SATB2):c.347-4G>A
|
|
|
NM_001172509.2(SATB2):c.357G>A (p.Lys119=)
|
rs1185687010
|
|
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
|
|
|
NM_001172509.2(SATB2):c.365G>C (p.Arg122Thr)
|
rs1182083147
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
NM_001172509.2(SATB2):c.390T>C (p.Tyr130=)
|
|
|
NM_001172509.2(SATB2):c.399T>G (p.Asp133Glu)
|
rs1574568652
|
|
NM_001172509.2(SATB2):c.402A>G (p.Ala134=)
|
|
|
NM_001172509.2(SATB2):c.424A>G (p.Met142Val)
|
rs751779659
|
|
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile)
|
rs764205432
|
|
NM_001172509.2(SATB2):c.429A>G (p.Leu143=)
|
rs758472659
|
|
NM_001172509.2(SATB2):c.429A>T (p.Leu143=)
|
rs758472659
|
|
NM_001172509.2(SATB2):c.438C>A (p.Val146=)
|
rs1553496383
|
|
NM_001172509.2(SATB2):c.444T>C (p.His148=)
|
|
|
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
|
|
|
NM_001172509.2(SATB2):c.46C>A (p.Arg16=)
|
rs937799874
|
|
NM_001172509.2(SATB2):c.473+10T>C
|
rs1257456365
|
|
NM_001172509.2(SATB2):c.473+15_473+17del
|
|
|
NM_001172509.2(SATB2):c.473+16C>T
|
|
|
NM_001172509.2(SATB2):c.473+17A>T
|
|
|
NM_001172509.2(SATB2):c.474-11C>G
|
|
|
NM_001172509.2(SATB2):c.474-14G>A
|
|
|
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
|
|
|
NM_001172509.2(SATB2):c.51G>A (p.Arg17=)
|
|
|
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
|
|
|
NM_001172509.2(SATB2):c.537A>G (p.Leu179=)
|
rs2105865933
|
|
NM_001172509.2(SATB2):c.540G>A (p.Lys180=)
|
rs1459002785
|
|
NM_001172509.2(SATB2):c.543A>G (p.Glu181=)
|
|
|
NM_001172509.2(SATB2):c.552A>G (p.Lys184=)
|
|
|
NM_001172509.2(SATB2):c.554del (p.Glu185fs)
|
rs2105865877
|
|
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter)
|
rs1391758713
|
|
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs)
|
rs2105865785
|
|
NM_001172509.2(SATB2):c.591C>T (p.Leu197=)
|
rs1574566787
|
|
NM_001172509.2(SATB2):c.594C>A (p.Ser198=)
|
rs747345430
|
|
NM_001172509.2(SATB2):c.594C>G (p.Ser198=)
|
rs747345430
|
|
NM_001172509.2(SATB2):c.597+15G>A
|
|
|
NM_001172509.2(SATB2):c.597+18G>A
|
|
|
NM_001172509.2(SATB2):c.597+20G>A
|
|
|
NM_001172509.2(SATB2):c.598-13T>C
|
|
|
NM_001172509.2(SATB2):c.598-13dup
|
rs199978702
|
|
NM_001172509.2(SATB2):c.598-17A>G
|
|
|
NM_001172509.2(SATB2):c.598-4T>C
|
|
|
NM_001172509.2(SATB2):c.598-4del
|
rs199978702
|
|
NM_001172509.2(SATB2):c.612C>T (p.Ser204=)
|
rs2105850112
|
|
NM_001172509.2(SATB2):c.627A>G (p.Thr209=)
|
rs1689357972
|
|
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
|
|
|
NM_001172509.2(SATB2):c.63G>A (p.Pro21=)
|
rs2105957272
|
|
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
|
|
|
NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)
|
|
|
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
|
|
|
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
|
|
|
NM_001172509.2(SATB2):c.6G>A (p.Glu2=)
|
|
|
NM_001172509.2(SATB2):c.700+11T>C
|
|
|
NM_001172509.2(SATB2):c.700+1G>A
|
|
|
NM_001172509.2(SATB2):c.700+20T>C
|
|
|
NM_001172509.2(SATB2):c.700+6del
|
rs1574554422
|
|
NM_001172509.2(SATB2):c.700+9dup
|
|
|
NM_001172509.2(SATB2):c.701-12A>C
|
rs116585116
|
|
NM_001172509.2(SATB2):c.701-8C>T
|
rs2105823726
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys)
|
rs752232729
|
|
NM_001172509.2(SATB2):c.723C>T (p.Asn241=)
|
|
|
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
|
|
|
NM_001172509.2(SATB2):c.729A>G (p.Ser243=)
|
|
|
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu)
|
rs766855879
|
|
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
|
|
|
NM_001172509.2(SATB2):c.750G>A (p.Gln250=)
|
rs1688739636
|
|
NM_001172509.2(SATB2):c.752G>A (p.Arg251His)
|
rs2105823583
|
|
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
|
|
|
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
|
|
|
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser)
|
rs2105823534
|
|
NM_001172509.2(SATB2):c.773T>C (p.Met258Thr)
|
|
|
NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)
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NM_001172509.2(SATB2):c.78T>G (p.Pro26=)
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|
NM_001172509.2(SATB2):c.790C>T (p.Leu264=)
|
rs1316738790
|
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NM_001172509.2(SATB2):c.792G>A (p.Leu264=)
|
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NM_001172509.2(SATB2):c.801C>T (p.Thr267=)
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NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)
|
rs375141410
|
|
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
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NM_001172509.2(SATB2):c.813T>C (p.Ser271=)
|
rs777362152
|
|
NM_001172509.2(SATB2):c.81C>T (p.Pro27=)
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NM_001172509.2(SATB2):c.825A>G (p.Gln275=)
|
rs995750176
|
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NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
|
|
|
NM_001172509.2(SATB2):c.833A>G (p.His278Arg)
|
rs1688736232
|
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NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala)
|
rs752392251
|
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NM_001172509.2(SATB2):c.844A>G (p.Ile282Val)
|
rs1688735770
|
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NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
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NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
|
|
|
NM_001172509.2(SATB2):c.855A>G (p.Gln285=)
|
rs904363589
|
|
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser)
|
rs768080548
|
|
NM_001172509.2(SATB2):c.861C>T (p.Pro287=)
|
rs762230959
|
|
NM_001172509.2(SATB2):c.874A>C (p.Ile292Leu)
|
|
|
NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)
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|
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
|
|
|
NM_001172509.2(SATB2):c.889C>T (p.Leu297Phe)
|
rs759677622
|
|
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
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NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
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NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
|
|
|
NM_001172509.2(SATB2):c.917T>A (p.Leu306His)
|
rs1688732391
|
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NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
|
|
|
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
|
|
|
NM_001172509.2(SATB2):c.927A>G (p.Gln309=)
|
|
|
NM_001172509.2(SATB2):c.942C>G (p.Ala314=)
|
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|
NM_001172509.2(SATB2):c.966C>A (p.Ala322=)
|
rs139350909
|
|
NM_001172509.2(SATB2):c.966C>T (p.Ala322=)
|
|
|
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)
|
|
|
NM_001172509.2(SATB2):c.972C>T (p.Ser324=)
|
|
|
NM_001172509.2(SATB2):c.974G>A (p.Arg325Gln)
|
rs1559175031
|
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NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
|
|
|
NM_001172509.2(SATB2):c.983C>A (p.Ala328Asp)
|
rs2105823140
|
|
NM_001172509.2(SATB2):c.994C>A (p.Pro332Thr)
|
|
|
NM_001172509.2(SATB2):c.996T>A (p.Pro332=)
|
|
|
NM_001172509.2(SATB2):c.9G>A (p.Arg3=)
|
rs1204178808
|
|