NM_001111125.3(IQSEC2):c.2298-258A>G
|
rs4830361
|
0.96679
|
NM_001111125.3(IQSEC2):c.737+12499A>G
|
rs6529669
|
0.23864
|
NM_001111125.3(IQSEC2):c.3115+218T>G
|
rs111902282
|
0.11266
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=)
|
rs1315062158
|
0.05436
|
NM_001111125.3(IQSEC2):c.999+51C>T
|
rs75167079
|
0.03998
|
NM_001111125.3(IQSEC2):c.737+170G>A
|
rs143266331
|
0.03205
|
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=)
|
rs185512321
|
0.02235
|
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)
|
rs61745228
|
0.02162
|
NM_001111125.3(IQSEC2):c.708-258A>T
|
rs138126527
|
0.01241
|
NM_001111125.3(IQSEC2):c.1401+36C>T
|
rs150178370
|
0.00972
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_001111125.3(IQSEC2):c.737+191G>A
|
rs60784175
|
0.00774
|
NM_001111125.3(IQSEC2):c.737+10291G>A
|
rs189694247
|
0.00773
|
NM_001111125.3(IQSEC2):c.737+10705T>C
|
rs142083173
|
0.00477
|
NM_001111125.3(IQSEC2):c.2890-213A>G
|
rs186488905
|
0.00446
|
NM_001111125.3(IQSEC2):c.738-212G>A
|
rs782512906
|
0.00411
|
NM_001111125.3(IQSEC2):c.2750-332T>C
|
rs193250315
|
0.00410
|
NM_001111125.3(IQSEC2):c.2583-296C>G
|
rs140424204
|
0.00408
|
NM_001111125.3(IQSEC2):c.3016-105T>C
|
rs369997559
|
0.00364
|
NM_001111125.3(IQSEC2):c.4326A>C (p.Pro1442=)
|
rs797044650
|
0.00174
|
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=)
|
rs782726368
|
0.00101
|
NM_001111125.3(IQSEC2):c.2583-234G>T
|
rs182369896
|
0.00100
|
NM_001111125.3(IQSEC2):c.3116-310C>T
|
rs181731337
|
0.00098
|
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
|
rs371450118
|
0.00097
|
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys)
|
rs781984542
|
0.00062
|
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro)
|
rs149027201
|
0.00060
|
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=)
|
rs2274308
|
0.00060
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=)
|
rs782744933
|
0.00033
|
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala)
|
rs782357394
|
0.00031
|
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=)
|
rs781805662
|
0.00028
|
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=)
|
rs1057521625
|
0.00028
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
NM_001111125.3(IQSEC2):c.2890-6G>A
|
rs184248834
|
0.00025
|
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)
|
rs797045630
|
0.00019
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=)
|
rs782748026
|
0.00014
|
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=)
|
rs782769823
|
0.00014
|
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=)
|
rs782760727
|
0.00012
|
NM_001111125.3(IQSEC2):c.999+4C>T
|
rs199648681
|
0.00012
|
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=)
|
rs140023181
|
0.00011
|
NM_001111125.3(IQSEC2):c.1648C>G (p.Pro550Ala)
|
rs782469479
|
0.00010
|
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=)
|
rs1216934275
|
0.00010
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)
|
rs782536136
|
0.00009
|
NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=)
|
rs1354953265
|
0.00009
|
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)
|
rs797044752
|
0.00007
|
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=)
|
rs1408670208
|
0.00007
|
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)
|
rs782727618
|
0.00007
|
NM_001111125.3(IQSEC2):c.3015+9A>G
|
rs781956154
|
0.00007
|
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser)
|
rs782101524
|
0.00007
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val)
|
rs782715847
|
0.00006
|
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser)
|
rs782355048
|
0.00006
|
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=)
|
rs1057522131
|
0.00005
|
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=)
|
rs782132072
|
0.00005
|
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=)
|
rs782668223
|
0.00004
|
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=)
|
rs191305900
|
0.00004
|
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291
|
0.00004
|
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=)
|
rs1057521782
|
0.00004
|
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys)
|
rs1556863213
|
0.00003
|
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=)
|
rs782547252
|
0.00003
|
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=)
|
rs1167090163
|
0.00003
|
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=)
|
rs377545286
|
0.00003
|
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)
|
rs797045629
|
0.00003
|
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)
|
rs1449945045
|
0.00003
|
NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr)
|
rs1085307636
|
0.00003
|
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp)
|
rs886044891
|
0.00003
|
NM_001111125.3(IQSEC2):c.635G>A (p.Ser212Asn)
|
rs899393047
|
0.00003
|
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn)
|
rs1470379713
|
0.00003
|
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln)
|
rs202076203
|
0.00002
|
NM_001111125.3(IQSEC2):c.1657C>T (p.Pro553Ser)
|
rs781876521
|
0.00002
|
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=)
|
rs886044781
|
0.00002
|
NM_001111125.3(IQSEC2):c.2064C>T (p.Gly688=)
|
rs782766118
|
0.00002
|
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln)
|
rs192071369
|
0.00002
|
NM_001111125.3(IQSEC2):c.2459+3G>A
|
rs1204856744
|
0.00002
|
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile)
|
rs1461166570
|
0.00002
|
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)
|
rs1556861372
|
0.00002
|
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser)
|
rs781808414
|
0.00002
|
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln)
|
rs782632137
|
0.00002
|
NM_001111125.3(IQSEC2):c.3278-13G>C
|
rs782674949
|
0.00002
|
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=)
|
rs374220843
|
0.00002
|
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr)
|
rs782559635
|
0.00002
|
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964
|
0.00002
|
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu)
|
rs1556858927
|
0.00002
|
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met)
|
rs1064796639
|
0.00002
|
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=)
|
rs370573314
|
0.00002
|
NM_001111125.3(IQSEC2):c.708-20T>C
|
rs1397654562
|
0.00002
|
NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln)
|
rs1397379867
|
0.00001
|
NM_001111125.3(IQSEC2):c.1275G>A (p.Arg425=)
|
rs782511486
|
0.00001
|
NM_001111125.3(IQSEC2):c.1286G>A (p.Gly429Glu)
|
rs936261583
|
0.00001
|
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln)
|
rs369172518
|
0.00001
|
NM_001111125.3(IQSEC2):c.2206C>T (p.Arg736Trp)
|
rs1057524271
|
0.00001
|
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=)
|
rs2074366023
|
0.00001
|
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=)
|
rs781978108
|
0.00001
|
NM_001111125.3(IQSEC2):c.3082G>A (p.Val1028Met)
|
rs1085307618
|
0.00001
|
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys)
|
rs782569979
|
0.00001
|
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=)
|
rs782437696
|
0.00001
|
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)
|
rs1556859667
|
0.00001
|
NM_001111125.3(IQSEC2):c.3439C>A (p.Leu1147Ile)
|
rs2074129057
|
0.00001
|
NM_001111125.3(IQSEC2):c.3502-8G>A
|
rs781808329
|
0.00001
|
NM_001111125.3(IQSEC2):c.3548C>T (p.Pro1183Leu)
|
rs1302692296
|
0.00001
|
NM_001111125.3(IQSEC2):c.3560C>T (p.Pro1187Leu)
|
rs1238193650
|
0.00001
|
NM_001111125.3(IQSEC2):c.3727C>T (p.His1243Tyr)
|
rs1050525102
|
0.00001
|
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)
|
rs1372592100
|
0.00001
|
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val)
|
rs1321322513
|
0.00001
|
NM_001111125.3(IQSEC2):c.567G>C (p.Ser189=)
|
rs782020682
|
0.00001
|
NM_001111125.3(IQSEC2):c.600G>A (p.Arg200=)
|
rs886044886
|
0.00001
|
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=)
|
rs782083256
|
0.00001
|
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=)
|
rs1419492759
|
0.00001
|
NM_001243197.2(IQSEC2):c.188C>T (p.Pro63Leu)
|
rs1224468985
|
0.00001
|
GRCh37/hg19 Xp11.22(chrX:53254672-53270756)x3
|
|
|
NM_001111125.3(IQSEC2):c.-6G>A
|
|
|
NM_001111125.3(IQSEC2):c.1000-259del
|
rs61173462
|
|
NM_001111125.3(IQSEC2):c.1076G>A (p.Arg359His)
|
|
|
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=)
|
rs1602383725
|
|
NM_001111125.3(IQSEC2):c.1157C>T (p.Ser386Phe)
|
|
|
NM_001111125.3(IQSEC2):c.1165C>A (p.Arg389=)
|
|
|
NM_001111125.3(IQSEC2):c.1165C>T (p.Arg389Trp)
|
rs1556864680
|
|
NM_001111125.3(IQSEC2):c.1219G>A (p.Glu407Lys)
|
|
|
NM_001111125.3(IQSEC2):c.1242C>T (p.Asp414=)
|
|
|
NM_001111125.3(IQSEC2):c.1247G>T (p.Gly416Val)
|
rs2147121696
|
|
NM_001111125.3(IQSEC2):c.1294T>A (p.Tyr432Asn)
|
|
|
NM_001111125.3(IQSEC2):c.1307G>A (p.Cys436Tyr)
|
rs2147120894
|
|
NM_001111125.3(IQSEC2):c.1346C>T (p.Thr449Ile)
|
rs2147120613
|
|
NM_001111125.3(IQSEC2):c.1373C>G (p.Thr458Arg)
|
rs2074437274
|
|
NM_001111125.3(IQSEC2):c.1377A>C (p.Glu459Asp)
|
rs2147120382
|
|
NM_001111125.3(IQSEC2):c.1399C>T (p.Gln467Ter)
|
rs2074437028
|
|
NM_001111125.3(IQSEC2):c.1401+186_1401+187insTTTTCC
|
rs370967301
|
|
NM_001111125.3(IQSEC2):c.1401+199del
|
rs57468463
|
|
NM_001111125.3(IQSEC2):c.1402-10C>A
|
rs183644900
|
|
NM_001111125.3(IQSEC2):c.1402-11C>G
|
rs187186062
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1402-65C>T
|
rs7886988
|
|
NM_001111125.3(IQSEC2):c.1402-9del
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1417G>A (p.Glu473Lys)
|
rs2147104606
|
|
NM_001111125.3(IQSEC2):c.1429G>A (p.Glu477Lys)
|
rs2147104281
|
|
NM_001111125.3(IQSEC2):c.1451C>T (p.Ser484Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1455G>C (p.Gly485=)
|
|
|
NM_001111125.3(IQSEC2):c.1483C>A (p.Gln495Lys)
|
rs2147103761
|
|
NM_001111125.3(IQSEC2):c.1494G>A (p.Lys498=)
|
rs2147103672
|
|
NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs)
|
rs2074383291
|
|
NM_001111125.3(IQSEC2):c.1566C>A (p.Asp522Glu)
|
rs1569302846
|
|
NM_001111125.3(IQSEC2):c.1583C>A (p.Ser528Tyr)
|
|
|
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs)
|
rs2074381038
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
NM_001111125.3(IQSEC2):c.1610C>A (p.Pro537His)
|
rs2147102528
|
|
NM_001111125.3(IQSEC2):c.1611C>T (p.Pro537=)
|
|
|
NM_001111125.3(IQSEC2):c.163A>G (p.Thr55Ala)
|
|
|
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr)
|
rs1064797066
|
|
NM_001111125.3(IQSEC2):c.1655C>A (p.Pro552Gln)
|
|
|
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala)
|
rs1556863347
|
|
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs)
|
rs1556863340
|
|
NM_001111125.3(IQSEC2):c.1691A>C (p.Glu564Ala)
|
rs2147100909
|
|
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1708G>A (p.Glu570Lys)
|
rs2147100677
|
|
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp)
|
rs1064797067
|
|
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=)
|
rs1602283885
|
|
NM_001111125.3(IQSEC2):c.1816C>T (p.Leu606=)
|
rs2147099953
|
|
NM_001111125.3(IQSEC2):c.1819A>C (p.Ser607Arg)
|
|
|
NM_001111125.3(IQSEC2):c.1825C>T (p.Arg609Cys)
|
rs1085307736
|
|
NM_001111125.3(IQSEC2):c.1861T>G (p.Tyr621Asp)
|
|
|
NM_001111125.3(IQSEC2):c.1874G>A (p.Gly625Asp)
|
|
|
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs)
|
rs2074372905
|
|
NM_001111125.3(IQSEC2):c.1925C>T (p.Pro642Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1925dup (p.Ile643fs)
|
rs1556863165
|
|
NM_001111125.3(IQSEC2):c.1927A>C (p.Ile643Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1963GCCCCA[3] (p.Pro658_Pro659insAlaPro)
|
|
|
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val)
|
rs1602283451
|
|
NM_001111125.3(IQSEC2):c.2002A>G (p.Ser668Gly)
|
rs1556863103
|
|
NM_001111125.3(IQSEC2):c.2012G>A (p.Gly671Glu)
|
|
|
NM_001111125.3(IQSEC2):c.2021del (p.Gly674fs)
|
rs1556863090
|
|
NM_001111125.3(IQSEC2):c.2054A>T (p.Glu685Val)
|
|
|
NM_001111125.3(IQSEC2):c.2098G>T (p.Glu700Ter)
|
rs1556863043
|
|
NM_001111125.3(IQSEC2):c.2153G>A (p.Arg718Gln)
|
rs1569301770
|
|
NM_001111125.3(IQSEC2):c.21C>T (p.Pro7=)
|
rs1556880357
|
|
NM_001111125.3(IQSEC2):c.2209G>A (p.Glu737Lys)
|
|
|
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter)
|
rs886041433
|
|
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)
|
rs1556862958
|
|
NM_001111125.3(IQSEC2):c.2297+228C>G
|
rs5933562
|
|
NM_001111125.3(IQSEC2):c.2297+5G>C
|
rs1602282739
|
|
NM_001111125.3(IQSEC2):c.2329G>A (p.Glu777Lys)
|
rs782517076
|
|
NM_001111125.3(IQSEC2):c.2329G>T (p.Glu777Ter)
|
rs782517076
|
|
NM_001111125.3(IQSEC2):c.235G>A (p.Ala79Thr)
|
rs2146551860
|
|
NM_001111125.3(IQSEC2):c.2369A>C (p.His790Pro)
|
rs2147089327
|
|
NM_001111125.3(IQSEC2):c.23C>G (p.Pro8Arg)
|
rs1556880353
|
|
NM_001111125.3(IQSEC2):c.2407A>G (p.Ile803Val)
|
rs1064795421
|
|
NM_001111125.3(IQSEC2):c.2475G>C (p.Glu825Asp)
|
|
|
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)
|
rs782099475
|
|
NM_001111125.3(IQSEC2):c.2533C>T (p.Arg845Trp)
|
|
|
NM_001111125.3(IQSEC2):c.254G>A (p.Arg85His)
|
rs1556880243
|
|
NM_001111125.3(IQSEC2):c.2579_2582+12del
|
rs1556862426
|
|
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)
|
rs267607186
|
|
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs)
|
rs1602277592
|
|
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn)
|
rs1602277527
|
|
NM_001111125.3(IQSEC2):c.2749+1G>A
|
rs1556862167
|
|
NM_001111125.3(IQSEC2):c.2749+2T>C
|
rs1602277471
|
|
NM_001111125.3(IQSEC2):c.2749+2T>G
|
rs1602277471
|
|
NM_001111125.3(IQSEC2):c.2750-9C>T
|
rs1556861395
|
|
NM_001111125.3(IQSEC2):c.2759A>G (p.Asn920Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter)
|
rs1057520858
|
|
NM_001111125.3(IQSEC2):c.2803C>T (p.Arg935Cys)
|
|
|
NM_001111125.3(IQSEC2):c.2811G>C (p.Gln937His)
|
rs781835138
|
|
NM_001111125.3(IQSEC2):c.2815C>T (p.Arg939Cys)
|
|
|
NM_001111125.3(IQSEC2):c.2866C>T (p.Arg956Cys)
|
rs2147059598
|
|
NM_001111125.3(IQSEC2):c.2889+1G>A
|
rs1556861311
|
|
NM_001111125.3(IQSEC2):c.2890-3T>G
|
rs2147050192
|
|
NM_001111125.3(IQSEC2):c.2890-56A>C
|
rs2274307
|
|
NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys)
|
rs2074227300
|
|
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His)
|
rs1556860937
|
|
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter)
|
rs1131691887
|
|
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys)
|
rs1556860910
|
|
NM_001111125.3(IQSEC2):c.296del (p.His99fs)
|
rs1064793152
|
|
NM_001111125.3(IQSEC2):c.2979T>G (p.His993Gln)
|
rs2147049519
|
|
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp)
|
rs1057521657
|
|
NM_001111125.3(IQSEC2):c.2983del (p.Arg995fs)
|
rs1602268620
|
|
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)
|
rs886041767
|
|
NM_001111125.3(IQSEC2):c.2995C>T (p.Leu999Phe)
|
rs1602268590
|
|
NM_001111125.3(IQSEC2):c.3016-1dup
|
rs1556860401
|
|
NM_001111125.3(IQSEC2):c.3016-242A>G
|
rs146633237
|
|
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del)
|
rs1556860396
|
|
NM_001111125.3(IQSEC2):c.3055T>C (p.Tyr1019His)
|
|
|
NM_001111125.3(IQSEC2):c.3065G>A (p.Arg1022His)
|
|
|
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)
|
rs2147027403
|
|
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro)
|
rs782632137
|
|
NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter)
|
rs1064796614
|
|
NM_001111125.3(IQSEC2):c.3277+5G>A
|
rs1064795725
|
|
NM_001111125.3(IQSEC2):c.3278-158A>G
|
rs2296541
|
|
NM_001111125.3(IQSEC2):c.3278-5C>G
|
rs1085307630
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met)
|
rs782558010
|
|
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)
|
rs868984872
|
|
NM_001111125.3(IQSEC2):c.339C>A (p.Asp113Glu)
|
|
|
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter)
|
rs1556859652
|
|
NM_001111125.3(IQSEC2):c.3452-163_3452-161del
|
rs199609782
|
|
NM_001111125.3(IQSEC2):c.3452-40del
|
rs782107172
|
|
NM_001111125.3(IQSEC2):c.3452-46G>C
|
rs188161608
|
|
NM_001111125.3(IQSEC2):c.3452-51G>A
|
|
|
NM_001111125.3(IQSEC2):c.3457C>T (p.Arg1153Trp)
|
rs2147010353
|
|
NM_001111125.3(IQSEC2):c.3458G>A (p.Arg1153Gln)
|
|
|
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)
|
rs2074117985
|
|
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
|
|
|
NM_001111125.3(IQSEC2):c.3475G>A (p.Val1159Met)
|
rs2147010117
|
|
NM_001111125.3(IQSEC2):c.3499G>T (p.Glu1167Ter)
|
rs2147009961
|
|
NM_001111125.3(IQSEC2):c.3502-2del
|
rs1131691650
|
|
NM_001111125.3(IQSEC2):c.3515dup (p.Ser1172fs)
|
rs2147006430
|
|
NM_001111125.3(IQSEC2):c.3533A>G (p.Gln1178Arg)
|
rs2147006326
|
|
NM_001111125.3(IQSEC2):c.3543A>C (p.Pro1181=)
|
|
|
NM_001111125.3(IQSEC2):c.3549G>C (p.Pro1183=)
|
|
|
NM_001111125.3(IQSEC2):c.3564G>C (p.Pro1188=)
|
rs1489138425
|
|
NM_001111125.3(IQSEC2):c.3602C>T (p.Ser1201Phe)
|
rs2147005416
|
|
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile)
|
rs2147004930
|
|
NM_001111125.3(IQSEC2):c.3679C>T (p.Gln1227Ter)
|
rs1556859257
|
|
NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del)
|
rs782189881
|
|
NM_001111125.3(IQSEC2):c.3717CCA[6] (p.His1247del)
|
rs782189881
|
|
NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs)
|
rs1602257730
|
|
NM_001111125.3(IQSEC2):c.3793C>T (p.Gln1265Ter)
|
rs1064795806
|
|
NM_001111125.3(IQSEC2):c.3840A>C (p.Pro1280=)
|
|
|
NM_001111125.3(IQSEC2):c.3852A>C (p.Pro1284=)
|
|
|
NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter)
|
rs1569291654
|
|
NM_001111125.3(IQSEC2):c.3886C>T (p.Gln1296Ter)
|
rs1064795460
|
|
NM_001111125.3(IQSEC2):c.3913T>G (p.Ser1305Ala)
|
|
|
NM_001111125.3(IQSEC2):c.3931G>A (p.Ala1311Thr)
|
|
|
NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys)
|
rs1556859104
|
|
NM_001111125.3(IQSEC2):c.4000T>C (p.Tyr1334His)
|
rs2147002472
|
|
NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs)
|
rs1064793569
|
|
NM_001111125.3(IQSEC2):c.4039G>A (p.Ala1347Thr)
|
rs2074097651
|
|
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs)
|
rs1064795512
|
|
NM_001111125.3(IQSEC2):c.4093A>C (p.Thr1365Pro)
|
rs2147001902
|
|
NM_001111125.3(IQSEC2):c.409G>A (p.Ala137Thr)
|
rs2146550740
|
|
NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter)
|
rs781846571
|
|
NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)
|
|
|
NM_001111125.3(IQSEC2):c.4174C>T (p.His1392Tyr)
|
|
|
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=)
|
rs1556859017
|
|
NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs)
|
rs1602256663
|
|
NM_001111125.3(IQSEC2):c.4300del (p.His1434fs)
|
rs1064795324
|
|
NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=)
|
rs587780360
|
|
NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)
|
|
|
NM_001111125.3(IQSEC2):c.4372C>A (p.His1458Asn)
|
rs2147000170
|
|
NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu)
|
rs2146999756
|
|
NM_001111125.3(IQSEC2):c.4433del (p.Lys1478fs)
|
|
|
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
|
|
|
NM_001111125.3(IQSEC2):c.4458C>T (p.Thr1486=)
|
rs1452805840
|
|
NM_001111125.3(IQSEC2):c.445G>A (p.Ala149Thr)
|
rs1556880140
|
|
NM_001111125.3(IQSEC2):c.4463T>C (p.Val1488Ala)
|
rs1556858900
|
|
NM_001111125.3(IQSEC2):c.4465T>A (p.Ter1489Arg)
|
rs2146999591
|
|
NM_001111125.3(IQSEC2):c.44G>C (p.Ser15Thr)
|
|
|
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met)
|
rs2075421767
|
|
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=)
|
rs2146549172
|
|
NM_001111125.3(IQSEC2):c.587C>A (p.Pro196Gln)
|
rs2075419503
|
|
NM_001111125.3(IQSEC2):c.598C>G (p.Arg200Gly)
|
rs1602382928
|
|
NM_001111125.3(IQSEC2):c.649G>T (p.Ala217Ser)
|
|
|
NM_001111125.3(IQSEC2):c.681C>T (p.Thr227=)
|
rs2146548006
|
|
NM_001111125.3(IQSEC2):c.713A>T (p.Asp238Val)
|
rs2146425989
|
|
NM_001111125.3(IQSEC2):c.737+11962CTCC[5]
|
rs200286632
|
|
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter)
|
rs1602293823
|
|
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)
|
rs886041481
|
|
NM_001111125.3(IQSEC2):c.827C>A (p.Pro276His)
|
|
|
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs)
|
rs1556865104
|
|
NM_001111125.3(IQSEC2):c.836G>A (p.Ser279Asn)
|
rs2147128288
|
|
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)
|
rs782660318
|
|
NM_001111125.3(IQSEC2):c.850C>A (p.Pro284Thr)
|
rs782531514
|
|
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
|
|
|
NM_001111125.3(IQSEC2):c.883C>T (p.Arg295Trp)
|
rs2147127878
|
|
NM_001111125.3(IQSEC2):c.886del (p.Ala296fs)
|
rs1602293563
|
|
NM_001111125.3(IQSEC2):c.889C>T (p.Arg297Cys)
|
rs990189482
|
|
NM_001111125.3(IQSEC2):c.908T>G (p.Val303Gly)
|
|
|
NM_001111125.3(IQSEC2):c.952G>T (p.Ala318Ser)
|
|
|
NM_001111125.3(IQSEC2):c.960G>A (p.Ser320=)
|
|
|
NM_001111125.3(IQSEC2):c.999+11G>A
|
rs1602293293
|
|
NM_001243197.2(IQSEC2):c.100T>C (p.Ser34Pro)
|
|
|
NM_001243197.2(IQSEC2):c.12C>G (p.Pro4=)
|
rs1203913557
|
|
NM_001243197.2(IQSEC2):c.12dup (p.Gly5fs)
|
rs1252463400
|
|
NM_001243197.2(IQSEC2):c.73G>C (p.Val25Leu)
|
|
|