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.2297+14G>A
|
rs17002631
|
0.02684
|
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.3015+14G>C
|
rs189183148
|
0.00462
|
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.3277+18G>A
|
rs143966238
|
0.00306
|
NM_001111125.3(IQSEC2):c.4326A>C (p.Pro1442=)
|
rs797044650
|
0.00174
|
NM_001111125.3(IQSEC2):c.3452-22G>A
|
rs369906117
|
0.00139
|
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=)
|
rs782713602
|
0.00115
|
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.837C>T (p.Ser279=)
|
rs374638286
|
0.00049
|
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.3116-19G>A
|
rs782264682
|
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.4311T>C (p.Tyr1437=)
|
rs1556858993
|
0.00009
|
NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=)
|
rs1354953265
|
0.00009
|
NM_001111125.3(IQSEC2):c.2297+4C>T
|
rs781794155
|
0.00008
|
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)
|
rs797044752
|
0.00007
|
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=)
|
rs782434593
|
0.00007
|
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)
|
rs142545002
|
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.3116-4A>T
|
rs371502883
|
0.00007
|
NM_001111125.3(IQSEC2):c.326A>G (p.Gln109Arg)
|
rs781898764
|
0.00007
|
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser)
|
rs782101524
|
0.00007
|
NM_001111125.3(IQSEC2):c.405G>A (p.Arg135=)
|
rs782085578
|
0.00007
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
NM_001111125.3(IQSEC2):c.2582+11C>A
|
rs782764289
|
0.00006
|
NM_001111125.3(IQSEC2):c.3015+16G>A
|
rs184771608
|
0.00006
|
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.1449G>A (p.Pro483=)
|
rs200629644
|
0.00005
|
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu)
|
rs782243346
|
0.00005
|
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln)
|
rs782420335
|
0.00005
|
NM_001111125.3(IQSEC2):c.1703G>A (p.Arg568His)
|
rs1188327285
|
0.00005
|
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=)
|
rs782132072
|
0.00005
|
NM_001111125.3(IQSEC2):c.3115+11T>G
|
rs782704136
|
0.00005
|
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val)
|
rs1003745171
|
0.00005
|
NM_001111125.3(IQSEC2):c.1401+7A>G
|
rs782164403
|
0.00004
|
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=)
|
rs781828922
|
0.00004
|
NM_001111125.3(IQSEC2):c.2022T>A (p.Gly674=)
|
rs1471608548
|
0.00004
|
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)
|
rs781830206
|
0.00004
|
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=)
|
rs371815225
|
0.00004
|
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=)
|
rs782668223
|
0.00004
|
NM_001111125.3(IQSEC2):c.2784C>G (p.Leu928=)
|
rs781904549
|
0.00004
|
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=)
|
rs191305900
|
0.00004
|
NM_001111125.3(IQSEC2):c.3318C>T (p.Ala1106=)
|
rs781870523
|
0.00004
|
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291
|
0.00004
|
NM_001111125.3(IQSEC2):c.3502-19C>T
|
rs782166410
|
0.00004
|
NM_001111125.3(IQSEC2):c.3837G>A (p.Pro1279=)
|
rs1405620315
|
0.00004
|
NM_001111125.3(IQSEC2):c.3939C>T (p.Ala1313=)
|
rs1473963072
|
0.00004
|
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=)
|
rs1057521782
|
0.00004
|
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=)
|
rs374511542
|
0.00003
|
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.2018G>A (p.Ser673Asn)
|
rs782244422
|
0.00003
|
NM_001111125.3(IQSEC2):c.2297+13C>T
|
rs782625023
|
0.00003
|
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu)
|
rs1057518272
|
0.00003
|
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=)
|
rs1556880350
|
0.00003
|
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=)
|
rs1167090163
|
0.00003
|
NM_001111125.3(IQSEC2):c.2534G>A (p.Arg845Gln)
|
rs1556862441
|
0.00003
|
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=)
|
rs377545286
|
0.00003
|
NM_001111125.3(IQSEC2):c.2889+10T>C
|
rs1057523665
|
0.00003
|
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=)
|
rs199643273
|
0.00003
|
NM_001111125.3(IQSEC2):c.3501+7G>T
|
rs1221336765
|
0.00003
|
NM_001111125.3(IQSEC2):c.3592G>A (p.Val1198Ile)
|
rs1193003776
|
0.00003
|
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)
|
rs797045629
|
0.00003
|
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=)
|
rs1057523277
|
0.00003
|
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr)
|
rs1057521942
|
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.4288C>A (p.Pro1430Thr)
|
rs1232612010
|
0.00003
|
NM_001111125.3(IQSEC2):c.531G>C (p.Pro177=)
|
rs1198105155
|
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.957A>G (p.Leu319=)
|
rs782803496
|
0.00003
|
NM_001111125.3(IQSEC2):c.1401+3C>A
|
rs377593679
|
0.00002
|
NM_001111125.3(IQSEC2):c.1426G>A (p.Asp476Asn)
|
rs200182557
|
0.00002
|
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln)
|
rs202076203
|
0.00002
|
NM_001111125.3(IQSEC2):c.1609C>A (p.Pro537Thr)
|
rs1389197755
|
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.2088C>T (p.Asn696=)
|
rs1405711349
|
0.00002
|
NM_001111125.3(IQSEC2):c.2139C>T (p.Ser713=)
|
rs782507169
|
0.00002
|
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu)
|
rs782745696
|
0.00002
|
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=)
|
rs781979737
|
0.00002
|
NM_001111125.3(IQSEC2):c.2181C>T (p.Thr727=)
|
rs782731808
|
0.00002
|
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=)
|
rs1556880357
|
0.00002
|
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln)
|
rs192071369
|
0.00002
|
NM_001111125.3(IQSEC2):c.2334G>A (p.Arg778=)
|
rs782564038
|
0.00002
|
NM_001111125.3(IQSEC2):c.2355G>A (p.Pro785=)
|
rs1327209801
|
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.2811G>A (p.Gln937=)
|
rs781835138
|
0.00002
|
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser)
|
rs781808414
|
0.00002
|
NM_001111125.3(IQSEC2):c.2867G>A (p.Arg956His)
|
rs1556861319
|
0.00002
|
NM_001111125.3(IQSEC2):c.294C>T (p.His98=)
|
rs1556880235
|
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.3278-14C>T
|
rs782292524
|
0.00002
|
NM_001111125.3(IQSEC2):c.3307C>T (p.Arg1103Trp)
|
rs868950692
|
0.00002
|
NM_001111125.3(IQSEC2):c.3326C>T (p.Pro1109Leu)
|
rs1556859714
|
0.00002
|
NM_001111125.3(IQSEC2):c.3357G>A (p.Thr1119=)
|
rs1041874158
|
0.00002
|
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=)
|
rs374220843
|
0.00002
|
NM_001111125.3(IQSEC2):c.3415G>A (p.Ala1139Thr)
|
rs1426916903
|
0.00002
|
NM_001111125.3(IQSEC2):c.3451+18C>T
|
rs782065826
|
0.00002
|
NM_001111125.3(IQSEC2):c.3486G>A (p.Leu1162=)
|
rs1490274246
|
0.00002
|
NM_001111125.3(IQSEC2):c.3502-15C>T
|
rs1299191132
|
0.00002
|
NM_001111125.3(IQSEC2):c.3502-3C>T
|
rs782720064
|
0.00002
|
NM_001111125.3(IQSEC2):c.3668C>T (p.Pro1223Leu)
|
rs1161354303
|
0.00002
|
NM_001111125.3(IQSEC2):c.3696T>G (p.Ser1232=)
|
rs1556859248
|
0.00002
|
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr)
|
rs1290683569
|
0.00002
|
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu)
|
rs1414926823
|
0.00002
|
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr)
|
rs782559635
|
0.00002
|
NM_001111125.3(IQSEC2):c.3930C>T (p.Pro1310=)
|
rs913156254
|
0.00002
|
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964
|
0.00002
|
NM_001111125.3(IQSEC2):c.4073G>A (p.Arg1358His)
|
rs782285127
|
0.00002
|
NM_001111125.3(IQSEC2):c.4197A>G (p.Ala1399=)
|
rs1425766090
|
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.446C>T (p.Ala149Val)
|
rs1556880136
|
0.00002
|
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=)
|
rs370573314
|
0.00002
|
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=)
|
rs1411580863
|
0.00002
|
NM_001111125.3(IQSEC2):c.708-20T>C
|
rs1397654562
|
0.00002
|
NM_001111125.3(IQSEC2):c.708-3C>T
|
rs781873807
|
0.00002
|
NM_001111125.3(IQSEC2):c.746G>C (p.Gly249Ala)
|
rs1556865202
|
0.00002
|
NM_001111125.3(IQSEC2):c.909C>T (p.Val303=)
|
rs781821475
|
0.00002
|
NM_001111125.3(IQSEC2):c.1009C>T (p.Leu337=)
|
rs781797392
|
0.00001
|
NM_001111125.3(IQSEC2):c.1026G>A (p.Gly342=)
|
rs782092090
|
0.00001
|
NM_001111125.3(IQSEC2):c.1036C>T (p.Leu346=)
|
rs2074443904
|
0.00001
|
NM_001111125.3(IQSEC2):c.1168A>C (p.Met390Leu)
|
rs1556864672
|
0.00001
|
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=)
|
rs782503727
|
0.00001
|
NM_001111125.3(IQSEC2):c.1236G>A (p.Ser412=)
|
rs782420377
|
0.00001
|
NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln)
|
rs1397379867
|
0.00001
|
NM_001111125.3(IQSEC2):c.1265G>A (p.Arg422Gln)
|
rs782441771
|
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.1339G>A (p.Val447Ile)
|
rs1556864546
|
0.00001
|
NM_001111125.3(IQSEC2):c.1341C>T (p.Val447=)
|
rs1361283835
|
0.00001
|
NM_001111125.3(IQSEC2):c.1374A>G (p.Thr458=)
|
rs781998777
|
0.00001
|
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=)
|
rs781915467
|
0.00001
|
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His)
|
rs370228504
|
0.00001
|
NM_001111125.3(IQSEC2):c.158A>G (p.Gln53Arg)
|
rs1158391435
|
0.00001
|
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=)
|
rs376149648
|
0.00001
|
NM_001111125.3(IQSEC2):c.1629C>T (p.Pro543=)
|
rs2074379481
|
0.00001
|
NM_001111125.3(IQSEC2):c.1653C>T (p.Leu551=)
|
rs782763345
|
0.00001
|
NM_001111125.3(IQSEC2):c.1655C>T (p.Pro552Leu)
|
rs1296515292
|
0.00001
|
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=)
|
rs200411197
|
0.00001
|
NM_001111125.3(IQSEC2):c.16G>C (p.Gly6Arg)
|
rs1556880366
|
0.00001
|
NM_001111125.3(IQSEC2):c.1729G>A (p.Gly577Arg)
|
rs782585718
|
0.00001
|
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln)
|
rs369172518
|
0.00001
|
NM_001111125.3(IQSEC2):c.189G>A (p.Glu63=)
|
rs1365066616
|
0.00001
|
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=)
|
rs781942714
|
0.00001
|
NM_001111125.3(IQSEC2):c.2000A>G (p.Asn667Ser)
|
rs782321409
|
0.00001
|
NM_001111125.3(IQSEC2):c.2046G>A (p.Gly682=)
|
rs782567023
|
0.00001
|
NM_001111125.3(IQSEC2):c.2206C>T (p.Arg736Trp)
|
rs1057524271
|
0.00001
|
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu)
|
rs781930433
|
0.00001
|
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=)
|
rs2074366023
|
0.00001
|
NM_001111125.3(IQSEC2):c.2316C>T (p.Ile772=)
|
rs1337229168
|
0.00001
|
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=)
|
rs781978108
|
0.00001
|
NM_001111125.3(IQSEC2):c.234C>G (p.Gly78=)
|
rs943476072
|
0.00001
|
NM_001111125.3(IQSEC2):c.2455T>C (p.Leu819=)
|
rs1323515165
|
0.00001
|
NM_001111125.3(IQSEC2):c.2459+16T>C
|
rs1204868242
|
0.00001
|
NM_001111125.3(IQSEC2):c.2459+19G>A
|
rs1057522303
|
0.00001
|
NM_001111125.3(IQSEC2):c.2583-10T>C
|
rs993459100
|
0.00001
|
NM_001111125.3(IQSEC2):c.2592C>T (p.Tyr864=)
|
rs1556862204
|
0.00001
|
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His)
|
rs370830356
|
0.00001
|
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln)
|
rs376739885
|
0.00001
|
NM_001111125.3(IQSEC2):c.2694C>T (p.Pro898=)
|
rs2074317558
|
0.00001
|
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=)
|
rs371055459
|
0.00001
|
NM_001111125.3(IQSEC2):c.2940G>A (p.Glu980=)
|
rs1052517256
|
0.00001
|
NM_001111125.3(IQSEC2):c.3015+13T>G
|
rs782124794
|
0.00001
|
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=)
|
rs781902812
|
0.00001
|
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=)
|
rs781862515
|
0.00001
|
NM_001111125.3(IQSEC2):c.3082G>A (p.Val1028Met)
|
rs1085307618
|
0.00001
|
NM_001111125.3(IQSEC2):c.3166A>G (p.Lys1056Glu)
|
rs973062974
|
0.00001
|
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys)
|
rs782569979
|
0.00001
|
NM_001111125.3(IQSEC2):c.3231C>T (p.Arg1077=)
|
rs781899074
|
0.00001
|
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=)
|
rs782437696
|
0.00001
|
NM_001111125.3(IQSEC2):c.3249G>A (p.Val1083=)
|
rs375024113
|
0.00001
|
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser)
|
rs782624844
|
0.00001
|
NM_001111125.3(IQSEC2):c.3380A>T (p.Asp1127Val)
|
rs144128848
|
0.00001
|
NM_001111125.3(IQSEC2):c.3390G>A (p.Gly1130=)
|
rs781835382
|
0.00001
|
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=)
|
rs782725826
|
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.3451+17C>T
|
rs1057522236
|
0.00001
|
NM_001111125.3(IQSEC2):c.345C>G (p.Gly115=)
|
rs1438347773
|
0.00001
|
NM_001111125.3(IQSEC2):c.3501+9C>T
|
rs1267607124
|
0.00001
|
NM_001111125.3(IQSEC2):c.3502-8G>A
|
rs781808329
|
0.00001
|
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
|
rs1300877733
|
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.3563C>T (p.Pro1188Leu)
|
rs1556859319
|
0.00001
|
NM_001111125.3(IQSEC2):c.363C>T (p.Gly121=)
|
rs1178634147
|
0.00001
|
NM_001111125.3(IQSEC2):c.3727C>T (p.His1243Tyr)
|
rs1050525102
|
0.00001
|
NM_001111125.3(IQSEC2):c.380A>G (p.Glu127Gly)
|
rs933120152
|
0.00001
|
NM_001111125.3(IQSEC2):c.381G>A (p.Glu127=)
|
rs1556880187
|
0.00001
|
NM_001111125.3(IQSEC2):c.3843C>T (p.Pro1281=)
|
rs1352308032
|
0.00001
|
NM_001111125.3(IQSEC2):c.3846C>T (p.Tyr1282=)
|
rs1556859158
|
0.00001
|
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met)
|
rs1347714754
|
0.00001
|
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=)
|
rs1556880172
|
0.00001
|
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=)
|
rs1556859096
|
0.00001
|
NM_001111125.3(IQSEC2):c.4033C>T (p.Arg1345Trp)
|
rs1333401052
|
0.00001
|
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)
|
rs1372592100
|
0.00001
|
NM_001111125.3(IQSEC2):c.463G>T (p.Ala155Ser)
|
rs1556880128
|
0.00001
|
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val)
|
rs1321322513
|
0.00001
|
NM_001111125.3(IQSEC2):c.566C>T (p.Ser189Leu)
|
rs1474659446
|
0.00001
|
NM_001111125.3(IQSEC2):c.567G>C (p.Ser189=)
|
rs782020682
|
0.00001
|
NM_001111125.3(IQSEC2):c.579C>A (p.Gly193=)
|
rs1556880030
|
0.00001
|
NM_001111125.3(IQSEC2):c.597G>A (p.Pro199=)
|
rs1282192716
|
0.00001
|
NM_001111125.3(IQSEC2):c.600G>A (p.Arg200=)
|
rs886044886
|
0.00001
|
NM_001111125.3(IQSEC2):c.639C>T (p.Ser213=)
|
rs2075418300
|
0.00001
|
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=)
|
rs782083256
|
0.00001
|
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=)
|
rs782524925
|
0.00001
|
NM_001111125.3(IQSEC2):c.708-6T>C
|
rs782195025
|
0.00001
|
NM_001111125.3(IQSEC2):c.730A>G (p.Thr244Ala)
|
rs1556873118
|
0.00001
|
NM_001111125.3(IQSEC2):c.738-7C>T
|
rs1556865215
|
0.00001
|
NM_001111125.3(IQSEC2):c.766C>T (p.Leu256=)
|
rs781919609
|
0.00001
|
NM_001111125.3(IQSEC2):c.777G>A (p.Ala259=)
|
rs923484172
|
0.00001
|
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg)
|
rs368559547
|
0.00001
|
NM_001111125.3(IQSEC2):c.809G>A (p.Arg270Gln)
|
rs782463684
|
0.00001
|
NM_001111125.3(IQSEC2):c.826C>A (p.Pro276Thr)
|
rs1556865113
|
0.00001
|
NM_001111125.3(IQSEC2):c.885G>C (p.Arg295=)
|
rs782699475
|
0.00001
|
NM_001111125.3(IQSEC2):c.903C>G (p.Ala301=)
|
rs782488348
|
0.00001
|
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=)
|
rs1419492759
|
0.00001
|
NM_001111125.3(IQSEC2):c.991G>A (p.Asp331Asn)
|
rs1556864973
|
0.00001
|
NM_001243197.2(IQSEC2):c.188C>T (p.Pro63Leu)
|
rs1224468985
|
0.00001
|
GRCh37/hg19 Xp11.22(chrX:53254672-53270756)x3
|
|
|
NC_000023.10:g.(?_53263401)_(53280376_?)del
|
|
|
NC_000023.10:g.(?_53270946)_(53271111_?)del
|
|
|
NC_000023.10:g.(?_53279441)_(53280376_?)del
|
|
|
NC_000023.10:g.(?_53349605)_(53350321_?)dup
|
|
|
NC_000023.11:g.53254331_53296102dup
|
|
|
NM_001111125.2(IQSEC2):c.2582+19_2582+29delCGCGAAGCTGCins64
|
|
|
NM_001111125.3(IQSEC2):c.*13G>C
|
rs1057521944
|
|
NM_001111125.3(IQSEC2):c.-4C>T
|
|
|
NM_001111125.3(IQSEC2):c.-6G>A
|
|
|
NM_001111125.3(IQSEC2):c.1000-10T>C
|
rs2147123327
|
|
NM_001111125.3(IQSEC2):c.1000-12del
|
|
|
NM_001111125.3(IQSEC2):c.1000-17C>G
|
|
|
NM_001111125.3(IQSEC2):c.1000-259del
|
rs61173462
|
|
NM_001111125.3(IQSEC2):c.1000-6_1001dup
|
|
|
NM_001111125.3(IQSEC2):c.1000-9C>T
|
rs1556864744
|
|
NM_001111125.3(IQSEC2):c.1008G>C (p.Met336Ile)
|
rs2074444300
|
|
NM_001111125.3(IQSEC2):c.1008G>T (p.Met336Ile)
|
rs2074444300
|
|
NM_001111125.3(IQSEC2):c.1017G>T (p.Arg339Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1042C>T (p.Arg348Cys)
|
rs2074443830
|
|
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs)
|
rs2074443766
|
|
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
|
|
|
NM_001111125.3(IQSEC2):c.1054A>G (p.Arg352Gly)
|
|
|
NM_001111125.3(IQSEC2):c.1059C>G (p.Thr353=)
|
rs2147123040
|
|
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
|
|
|
NM_001111125.3(IQSEC2):c.106C>T (p.Leu36=)
|
rs2146552909
|
|
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)
|
rs267607188
|
|
NM_001111125.3(IQSEC2):c.1076G>A (p.Arg359His)
|
|
|
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs)
|
rs1602291861
|
|
NM_001111125.3(IQSEC2):c.1089G>A (p.Met363Ile)
|
rs2147122803
|
|
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=)
|
rs1602383725
|
|
NM_001111125.3(IQSEC2):c.1105C>A (p.Arg369=)
|
|
|
NM_001111125.3(IQSEC2):c.1110A>C (p.Leu370=)
|
|
|
NM_001111125.3(IQSEC2):c.1115G>C (p.Ser372Thr)
|
rs2074442571
|
|
NM_001111125.3(IQSEC2):c.1124C>T (p.Ser375Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1128G>A (p.Glu376=)
|
rs2147122484
|
|
NM_001111125.3(IQSEC2):c.1133G>A (p.Arg378His)
|
rs797045626
|
|
NM_001111125.3(IQSEC2):c.1147A>G (p.Ile383Val)
|
|
|
NM_001111125.3(IQSEC2):c.1157C>T (p.Ser386Phe)
|
|
|
NM_001111125.3(IQSEC2):c.1158C>T (p.Ser386=)
|
|
|
NM_001111125.3(IQSEC2):c.1165C>A (p.Arg389=)
|
|
|
NM_001111125.3(IQSEC2):c.1165C>T (p.Arg389Trp)
|
rs1556864680
|
|
NM_001111125.3(IQSEC2):c.1171C>A (p.Gln391Lys)
|
rs2074441863
|
|
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter)
|
rs1602291658
|
|
NM_001111125.3(IQSEC2):c.1194G>A (p.Glu398=)
|
|
|
NM_001111125.3(IQSEC2):c.1218C>T (p.Phe406=)
|
|
|
NM_001111125.3(IQSEC2):c.1219G>A (p.Glu407Lys)
|
|
|
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs)
|
rs1569305431
|
|
NM_001111125.3(IQSEC2):c.122G>A (p.Arg41Gln)
|
|
|
NM_001111125.3(IQSEC2):c.1230T>C (p.Pro410=)
|
rs2147121849
|
|
NM_001111125.3(IQSEC2):c.1242C>T (p.Asp414=)
|
|
|
NM_001111125.3(IQSEC2):c.1247G>T (p.Gly416Val)
|
rs2147121696
|
|
NM_001111125.3(IQSEC2):c.1250C>A (p.Ala417Asp)
|
|
|
NM_001111125.3(IQSEC2):c.1254G>A (p.Met418Ile)
|
|
|
NM_001111125.3(IQSEC2):c.1264C>T (p.Arg422Trp)
|
|
|
NM_001111125.3(IQSEC2):c.1274G>A (p.Arg425Gln)
|
rs2074439744
|
|
NM_001111125.3(IQSEC2):c.1287G>C (p.Gly429=)
|
rs1556864576
|
|
NM_001111125.3(IQSEC2):c.1294T>A (p.Tyr432Asn)
|
|
|
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter)
|
rs2147121012
|
|
NM_001111125.3(IQSEC2):c.1301G>C (p.Gly434Ala)
|
|
|
NM_001111125.3(IQSEC2):c.1307G>A (p.Cys436Tyr)
|
rs2147120894
|
|
NM_001111125.3(IQSEC2):c.1313G>A (p.Gly438Glu)
|
|
|
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=)
|
rs1556880287
|
|
NM_001111125.3(IQSEC2):c.1343C>T (p.Thr448Ile)
|
|
|
NM_001111125.3(IQSEC2):c.1346C>T (p.Thr449Ile)
|
rs2147120613
|
|
NM_001111125.3(IQSEC2):c.136G>A (p.Glu46Lys)
|
rs2075426999
|
|
NM_001111125.3(IQSEC2):c.1372A>G (p.Thr458Ala)
|
|
|
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.1385A>G (p.Asp462Gly)
|
|
|
NM_001111125.3(IQSEC2):c.1391_1393del (p.Phe464del)
|
rs2074437084
|
|
NM_001111125.3(IQSEC2):c.1398A>T (p.Lys466Asn)
|
|
|
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.1401+2T>A
|
|
|
NM_001111125.3(IQSEC2):c.1401+4A>G
|
rs1556864509
|
|
NM_001111125.3(IQSEC2):c.1401+8T>C
|
|
|
NM_001111125.3(IQSEC2):c.1402-10C>A
|
rs183644900
|
|
NM_001111125.3(IQSEC2):c.1402-10C>G
|
rs183644900
|
|
NM_001111125.3(IQSEC2):c.1402-11C>A
|
rs187186062
|
|
NM_001111125.3(IQSEC2):c.1402-11C>G
|
rs187186062
|
|
NM_001111125.3(IQSEC2):c.1402-11C>T
|
|
|
NM_001111125.3(IQSEC2):c.1402-124_1533del
|
|
|
NM_001111125.3(IQSEC2):c.1402-12C>G
|
|
|
NM_001111125.3(IQSEC2):c.1402-14C>T
|
rs2147105052
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1402-18C>T
|
|
|
NM_001111125.3(IQSEC2):c.1402-3C>G
|
rs2074385671
|
|
NM_001111125.3(IQSEC2):c.1402-65C>T
|
rs7886988
|
|
NM_001111125.3(IQSEC2):c.1402-9del
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1402G>A (p.Val468Ile)
|
|
|
NM_001111125.3(IQSEC2):c.1402G>C (p.Val468Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1405_1406del (p.Lys469fs)
|
rs2074385548
|
|
NM_001111125.3(IQSEC2):c.1415C>A (p.Ala472Asp)
|
|
|
NM_001111125.3(IQSEC2):c.1417G>A (p.Glu473Lys)
|
rs2147104606
|
|
NM_001111125.3(IQSEC2):c.1422C>T (p.Ser474=)
|
rs2147104494
|
|
NM_001111125.3(IQSEC2):c.1429G>A (p.Glu477Lys)
|
rs2147104281
|
|
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1436_1603del (p.Leu479_Thr535delinsPro)
|
rs1556863457
|
|
NM_001111125.3(IQSEC2):c.1438A>C (p.Asn480His)
|
|
|
NM_001111125.3(IQSEC2):c.1448C>T (p.Pro483Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1451C>T (p.Ser484Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1454G>A (p.Gly485Glu)
|
|
|
NM_001111125.3(IQSEC2):c.1455G>C (p.Gly485=)
|
|
|
NM_001111125.3(IQSEC2):c.145G>A (p.Gly49Ser)
|
rs2146552703
|
|
NM_001111125.3(IQSEC2):c.1463C>G (p.Ser488Cys)
|
|
|
NM_001111125.3(IQSEC2):c.1468G>C (p.Glu490Gln)
|
|
|
NM_001111125.3(IQSEC2):c.1469A>G (p.Glu490Gly)
|
rs782279475
|
|
NM_001111125.3(IQSEC2):c.1474G>A (p.Gly492Arg)
|
rs2074383866
|
|
NM_001111125.3(IQSEC2):c.1483C>A (p.Gln495Lys)
|
rs2147103761
|
|
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter)
|
rs2147103761
|
|
NM_001111125.3(IQSEC2):c.1484A>G (p.Gln495Arg)
|
|
|
NM_001111125.3(IQSEC2):c.1485G>A (p.Gln495=)
|
|
|
NM_001111125.3(IQSEC2):c.1494G>A (p.Lys498=)
|
rs2147103672
|
|
NM_001111125.3(IQSEC2):c.1496G>A (p.Arg499Gln)
|
rs782243346
|
|
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
|
|
|
NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs)
|
rs2074383291
|
|
NM_001111125.3(IQSEC2):c.1512G>A (p.Gln504=)
|
|
|
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs)
|
rs2074383129
|
|
NM_001111125.3(IQSEC2):c.1518G>A (p.Glu506=)
|
rs2147103383
|
|
NM_001111125.3(IQSEC2):c.151C>G (p.Leu51Val)
|
|
|
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs)
|
rs1556863492
|
|
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)
|
rs987032967
|
|
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=)
|
rs782768601
|
|
NM_001111125.3(IQSEC2):c.1557C>T (p.Tyr519=)
|
|
|
NM_001111125.3(IQSEC2):c.1561G>A (p.Asp521Asn)
|
|
|
NM_001111125.3(IQSEC2):c.1566C>A (p.Asp522Glu)
|
rs1569302846
|
|
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
|
|
|
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter)
|
rs1569302816
|
|
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
|
|
|
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.1592G>A (p.Arg531Gln)
|
rs149027201
|
|
NM_001111125.3(IQSEC2):c.1603A>C (p.Thr535Pro)
|
|
|
NM_001111125.3(IQSEC2):c.1610C>A (p.Pro537His)
|
rs2147102528
|
|
NM_001111125.3(IQSEC2):c.1611C>G (p.Pro537=)
|
|
|
NM_001111125.3(IQSEC2):c.1611C>T (p.Pro537=)
|
|
|
NM_001111125.3(IQSEC2):c.1612C>G (p.Pro538Ala)
|
rs1556863445
|
|
NM_001111125.3(IQSEC2):c.1613C>T (p.Pro538Leu)
|
rs2147102395
|
|
NM_001111125.3(IQSEC2):c.1613dup (p.Pro539fs)
|
rs2147102426
|
|
NM_001111125.3(IQSEC2):c.1615C>T (p.Pro539Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1616C>G (p.Pro539Arg)
|
rs2147102337
|
|
NM_001111125.3(IQSEC2):c.1616C>T (p.Pro539Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1624C>T (p.Arg542Trp)
|
|
|
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu)
|
rs782420335
|
|
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs)
|
rs1556863435
|
|
NM_001111125.3(IQSEC2):c.1630G>A (p.Glu544Lys)
|
|
|
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter)
|
rs2074379209
|
|
NM_001111125.3(IQSEC2):c.163A>G (p.Thr55Ala)
|
|
|
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs)
|
rs1556863398
|
|
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr)
|
rs1064797066
|
|
NM_001111125.3(IQSEC2):c.1655C>A (p.Pro552Gln)
|
|
|
NM_001111125.3(IQSEC2):c.1655_1667dup (p.Pro557fs)
|
|
|
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln)
|
rs782165719
|
|
NM_001111125.3(IQSEC2):c.1668A>G (p.Pro556=)
|
|
|
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala)
|
rs1556863347
|
|
NM_001111125.3(IQSEC2):c.166C>G (p.Gln56Glu)
|
|
|
NM_001111125.3(IQSEC2):c.1672G>C (p.Val558Leu)
|
rs2074377782
|
|
NM_001111125.3(IQSEC2):c.1676C>T (p.Pro559Leu)
|
rs2074377574
|
|
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs)
|
rs1556863340
|
|
NM_001111125.3(IQSEC2):c.1684A>G (p.Thr562Ala)
|
rs1556863333
|
|
NM_001111125.3(IQSEC2):c.1685C>T (p.Thr562Ile)
|
rs2074377330
|
|
NM_001111125.3(IQSEC2):c.1688G>A (p.Arg563Gln)
|
rs1556863321
|
|
NM_001111125.3(IQSEC2):c.1691A>C (p.Glu564Ala)
|
rs2147100909
|
|
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1702C>T (p.Arg568Cys)
|
|
|
NM_001111125.3(IQSEC2):c.1704T>C (p.Arg568=)
|
rs1569302421
|
|
NM_001111125.3(IQSEC2):c.1708G>A (p.Glu570Lys)
|
rs2147100677
|
|
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp)
|
rs1569302404
|
|
NM_001111125.3(IQSEC2):c.1712G>T (p.Gly571Val)
|
|
|
NM_001111125.3(IQSEC2):c.1721G>A (p.Arg574Lys)
|
|
|
NM_001111125.3(IQSEC2):c.1728C>T (p.Pro576=)
|
|
|
NM_001111125.3(IQSEC2):c.1731G>A (p.Gly577=)
|
|
|
NM_001111125.3(IQSEC2):c.173A>G (p.Asn58Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp)
|
rs1064797067
|
|
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln)
|
rs2074375518
|
|
NM_001111125.3(IQSEC2):c.1760G>A (p.Arg587Gln)
|
|
|
NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)
|
|
|
NM_001111125.3(IQSEC2):c.1788T>C (p.Ile596=)
|
rs2147100123
|
|
NM_001111125.3(IQSEC2):c.1791G>A (p.Glu597=)
|
rs1319710513
|
|
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=)
|
rs1602283885
|
|
NM_001111125.3(IQSEC2):c.1812G>C (p.Val604=)
|
rs2147099994
|
|
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs)
|
rs2074374579
|
|
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.1835G>A (p.Arg612His)
|
|
|
NM_001111125.3(IQSEC2):c.1836C>T (p.Arg612=)
|
|
|
NM_001111125.3(IQSEC2):c.1848C>T (p.His616=)
|
|
|
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs)
|
rs2074373583
|
|
NM_001111125.3(IQSEC2):c.1850G>A (p.Arg617His)
|
|
|
NM_001111125.3(IQSEC2):c.1861T>G (p.Tyr621Asp)
|
|
|
NM_001111125.3(IQSEC2):c.1868C>T (p.Ala623Val)
|
|
|
NM_001111125.3(IQSEC2):c.1869T>G (p.Ala623=)
|
|
|
NM_001111125.3(IQSEC2):c.1872T>C (p.Asp624=)
|
|
|
NM_001111125.3(IQSEC2):c.1874G>A (p.Gly625Asp)
|
|
|
NM_001111125.3(IQSEC2):c.1878C>T (p.Cys626=)
|
|
|
NM_001111125.3(IQSEC2):c.187G>A (p.Glu63Lys)
|
|
|
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs)
|
rs2074372905
|
|
NM_001111125.3(IQSEC2):c.1884C>T (p.Pro628=)
|
|
|
NM_001111125.3(IQSEC2):c.1886A>G (p.His629Arg)
|
rs2074372604
|
|
NM_001111125.3(IQSEC2):c.1892C>T (p.Thr631Ile)
|
|
|
NM_001111125.3(IQSEC2):c.1893C>A (p.Thr631=)
|
|
|
NM_001111125.3(IQSEC2):c.1907G>T (p.Gly636Val)
|
rs2074372213
|
|
NM_001111125.3(IQSEC2):c.1911A>C (p.Pro637=)
|
|
|
NM_001111125.3(IQSEC2):c.1925C>G (p.Pro642Arg)
|
|
|
NM_001111125.3(IQSEC2):c.1925C>T (p.Pro642Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs)
|
rs1556863165
|
|
NM_001111125.3(IQSEC2):c.1925dup (p.Ile643fs)
|
rs1556863165
|
|
NM_001111125.3(IQSEC2):c.1927A>C (p.Ile643Leu)
|
|
|
NM_001111125.3(IQSEC2):c.1936C>T (p.Arg646Cys)
|
|
|
NM_001111125.3(IQSEC2):c.1937G>A (p.Arg646His)
|
|
|
NM_001111125.3(IQSEC2):c.1963GCCCCA[3] (p.Pro658_Pro659insAlaPro)
|
|
|
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs)
|
rs1602283534
|
|
NM_001111125.3(IQSEC2):c.1981C>T (p.Pro661Ser)
|
|
|
NM_001111125.3(IQSEC2):c.1983C>G (p.Pro661=)
|
|
|
NM_001111125.3(IQSEC2):c.1984C>T (p.Leu662=)
|
|
|
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val)
|
rs1602283451
|
|
NM_001111125.3(IQSEC2):c.1997C>T (p.Pro666Leu)
|
|
|
NM_001111125.3(IQSEC2):c.19C>T (p.Pro7Ser)
|
rs2075428522
|
|
NM_001111125.3(IQSEC2):c.2002A>G (p.Ser668Gly)
|
rs1556863103
|
|
NM_001111125.3(IQSEC2):c.2008A>G (p.Thr670Ala)
|
|
|
NM_001111125.3(IQSEC2):c.2012G>A (p.Gly671Glu)
|
|
|
NM_001111125.3(IQSEC2):c.2013G>T (p.Gly671=)
|
rs1556863095
|
|
NM_001111125.3(IQSEC2):c.201G>C (p.Leu67=)
|
rs587780359
|
|
NM_001111125.3(IQSEC2):c.2021del (p.Gly674fs)
|
rs1556863090
|
|
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs)
|
rs2074369642
|
|
NM_001111125.3(IQSEC2):c.2032G>A (p.Gly678Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2035C>T (p.Arg679Trp)
|
rs2147098048
|
|
NM_001111125.3(IQSEC2):c.2036G>A (p.Arg679Gln)
|
|
|
NM_001111125.3(IQSEC2):c.2036G>T (p.Arg679Leu)
|
rs1345618130
|
|
NM_001111125.3(IQSEC2):c.2041T>C (p.Leu681=)
|
rs1556863072
|
|
NM_001111125.3(IQSEC2):c.2052C>A (p.Cys684Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer)
|
rs797044889
|
|
NM_001111125.3(IQSEC2):c.2054A>T (p.Glu685Val)
|
|
|
NM_001111125.3(IQSEC2):c.2059G>T (p.Ala687Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2064C>A (p.Gly688=)
|
rs782766118
|
|
NM_001111125.3(IQSEC2):c.2078del (p.Gly693fs)
|
|
|
NM_001111125.3(IQSEC2):c.2098G>T (p.Glu700Ter)
|
rs1556863043
|
|
NM_001111125.3(IQSEC2):c.2103C>T (p.Ser701=)
|
rs2147097639
|
|
NM_001111125.3(IQSEC2):c.2106C>T (p.Ser702=)
|
|
|
NM_001111125.3(IQSEC2):c.2117A>G (p.Asn706Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2127C>T (p.Ile709=)
|
rs1556863038
|
|
NM_001111125.3(IQSEC2):c.213G>A (p.Glu71=)
|
rs2146552192
|
|
NM_001111125.3(IQSEC2):c.2147C>T (p.Ser716Phe)
|
|
|
NM_001111125.3(IQSEC2):c.2153G>A (p.Arg718Gln)
|
rs1569301770
|
|
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2182G>A (p.Gly728Ser)
|
|
|
NM_001111125.3(IQSEC2):c.21C>T (p.Pro7=)
|
rs1556880357
|
|
NM_001111125.3(IQSEC2):c.2203C>T (p.Gln735Ter)
|
rs2147096963
|
|
NM_001111125.3(IQSEC2):c.2209G>A (p.Glu737Lys)
|
|
|
NM_001111125.3(IQSEC2):c.2213_2214delinsAG (p.Thr738Lys)
|
rs2147096828
|
|
NM_001111125.3(IQSEC2):c.2220T>C (p.His740=)
|
|
|
NM_001111125.3(IQSEC2):c.2221A>T (p.Ser741Cys)
|
rs2147096800
|
|
NM_001111125.3(IQSEC2):c.2225G>A (p.Trp742Ter)
|
rs2147096776
|
|
NM_001111125.3(IQSEC2):c.2241C>T (p.Phe747=)
|
|
|
NM_001111125.3(IQSEC2):c.225C>A (p.Asp75Glu)
|
rs2075425330
|
|
NM_001111125.3(IQSEC2):c.2261G>A (p.Arg754Lys)
|
rs2147096443
|
|
NM_001111125.3(IQSEC2):c.2265G>T (p.Arg755=)
|
|
|
NM_001111125.3(IQSEC2):c.226C>T (p.Pro76Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=)
|
rs1556862965
|
|
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter)
|
rs886041433
|
|
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln)
|
rs267607189
|
|
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)
|
rs1556862958
|
|
NM_001111125.3(IQSEC2):c.2278G>C (p.Gly760Arg)
|
|
|
NM_001111125.3(IQSEC2):c.2279G>A (p.Gly760Asp)
|
|
|
NM_001111125.3(IQSEC2):c.2292del (p.Phe764fs)
|
rs2147096232
|
|
NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)
|
|
|
NM_001111125.3(IQSEC2):c.2297+228C>G
|
rs5933562
|
|
NM_001111125.3(IQSEC2):c.2297+2T>C
|
rs2147096217
|
|
NM_001111125.3(IQSEC2):c.2297+5G>C
|
rs1602282739
|
|
NM_001111125.3(IQSEC2):c.2297+7G>A
|
rs1556862951
|
|
NM_001111125.3(IQSEC2):c.2298-10C>T
|
rs1057523662
|
|
NM_001111125.3(IQSEC2):c.2298G>A (p.Lys766=)
|
|
|
NM_001111125.3(IQSEC2):c.2304A>G (p.Pro768=)
|
|
|
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter)
|
rs2147089995
|
|
NM_001111125.3(IQSEC2):c.2319G>A (p.Gln773=)
|
|
|
NM_001111125.3(IQSEC2):c.2323C>G (p.Leu775Val)
|
|
|
NM_001111125.3(IQSEC2):c.2323C>T (p.Leu775=)
|
rs1569300762
|
|
NM_001111125.3(IQSEC2):c.2329G>A (p.Glu777Lys)
|
rs782517076
|
|
NM_001111125.3(IQSEC2):c.2329G>C (p.Glu777Gln)
|
|
|
NM_001111125.3(IQSEC2):c.2329G>T (p.Glu777Ter)
|
rs782517076
|
|
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs)
|
rs2147089642
|
|
NM_001111125.3(IQSEC2):c.2342T>C (p.Leu781Pro)
|
rs2074344245
|
|
NM_001111125.3(IQSEC2):c.2346A>G (p.Ser782=)
|
|
|
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
|
|
|
NM_001111125.3(IQSEC2):c.235G>A (p.Ala79Thr)
|
rs2146551860
|
|
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val)
|
rs875989799
|
|
NM_001111125.3(IQSEC2):c.2369A>C (p.His790Pro)
|
rs2147089327
|
|
NM_001111125.3(IQSEC2):c.2378T>C (p.Leu793Pro)
|
|
|
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter)
|
rs1569300687
|
|
NM_001111125.3(IQSEC2):c.2383C>T (p.Arg795Trp)
|
|
|
NM_001111125.3(IQSEC2):c.2384G>A (p.Arg795Gln)
|
rs2147089214
|
|
NM_001111125.3(IQSEC2):c.239G>A (p.Arg80Gln)
|
|
|
NM_001111125.3(IQSEC2):c.23C>G (p.Pro8Arg)
|
rs1556880353
|
|
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro)
|
rs267607187
|
|
NM_001111125.3(IQSEC2):c.2404A>G (p.Met802Val)
|
|
|
NM_001111125.3(IQSEC2):c.2407A>G (p.Ile803Val)
|
rs1064795421
|
|
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
|
|
|
NM_001111125.3(IQSEC2):c.2422G>A (p.Gly808Arg)
|
|
|
NM_001111125.3(IQSEC2):c.2459+8C>A
|
rs1485084441
|
|
NM_001111125.3(IQSEC2):c.2460-15T>C
|
|
|
NM_001111125.3(IQSEC2):c.2460-2A>G
|
rs1602279457
|
|
NM_001111125.3(IQSEC2):c.2467G>C (p.Val823Leu)
|
|
|
NM_001111125.3(IQSEC2):c.2469G>A (p.Val823=)
|
|
|
NM_001111125.3(IQSEC2):c.2475G>C (p.Glu825Asp)
|
|
|
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr)
|
rs1060499660
|
|
NM_001111125.3(IQSEC2):c.2491A>G (p.Met831Val)
|
|
|
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)
|
rs782099475
|
|
NM_001111125.3(IQSEC2):c.2508G>T (p.Ala836=)
|
rs2274308
|
|
NM_001111125.3(IQSEC2):c.2513G>A (p.Arg838Gln)
|
rs2074336085
|
|
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser)
|
rs2074335877
|
|
NM_001111125.3(IQSEC2):c.2525C>G (p.Ser842Cys)
|
rs2074335826
|
|
NM_001111125.3(IQSEC2):c.2529T>C (p.His843=)
|
rs2147086012
|
|
NM_001111125.3(IQSEC2):c.2531T>A (p.Ile844Asn)
|
|
|
NM_001111125.3(IQSEC2):c.2533C>T (p.Arg845Trp)
|
|
|
NM_001111125.3(IQSEC2):c.2539C>A (p.Gln847Lys)
|
|
|
NM_001111125.3(IQSEC2):c.254G>A (p.Arg85His)
|
rs1556880243
|
|
NM_001111125.3(IQSEC2):c.2551C>T (p.Gln851Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2562G>A (p.Glu854=)
|
|
|
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter)
|
rs587777261
|
|
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
|
|
|
NM_001111125.3(IQSEC2):c.2576C>A (p.Ala859Asp)
|
rs2074335191
|
|
NM_001111125.3(IQSEC2):c.2579_2582+12del
|
rs1556862426
|
|
NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG
|
rs2147085327
|
|
NM_001111125.3(IQSEC2):c.2582+1del
|
rs2074335019
|
|
NM_001111125.3(IQSEC2):c.2582+20G>A
|
|
|
NM_001111125.3(IQSEC2):c.2582+2T>C
|
rs1569300277
|
|
NM_001111125.3(IQSEC2):c.2582+3G>T
|
rs782493529
|
|
NM_001111125.3(IQSEC2):c.2582+4T>G
|
|
|
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr)
|
rs797044932
|
|
NM_001111125.3(IQSEC2):c.2583-14dup
|
|
|
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)
|
rs267607186
|
|
NM_001111125.3(IQSEC2):c.258G>A (p.Glu86=)
|
|
|
NM_001111125.3(IQSEC2):c.2596G>A (p.Val866Ile)
|
|
|
NM_001111125.3(IQSEC2):c.2617C>A (p.Arg873Ser)
|
rs782383669
|
|
NM_001111125.3(IQSEC2):c.2618G>C (p.Arg873Pro)
|
|
|
NM_001111125.3(IQSEC2):c.2621A>G (p.Gln874Arg)
|
|
|
NM_001111125.3(IQSEC2):c.2631C>T (p.Asn877=)
|
|
|
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs)
|
rs1602277592
|
|
NM_001111125.3(IQSEC2):c.2648T>C (p.Ile883Thr)
|
|
|
NM_001111125.3(IQSEC2):c.2652T>C (p.Leu884=)
|
|
|
NM_001111125.3(IQSEC2):c.2658T>A (p.Phe886Leu)
|
rs2147080692
|
|
NM_001111125.3(IQSEC2):c.2667C>T (p.Ile889=)
|
rs2147080648
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
NM_001111125.3(IQSEC2):c.2679C>G (p.Thr893=)
|
rs782193796
|
|
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn)
|
rs1602277527
|
|
NM_001111125.3(IQSEC2):c.2684T>C (p.Met895Thr)
|
rs2147080510
|
|
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
|
|
|
NM_001111125.3(IQSEC2):c.2697C>T (p.Ser899=)
|
rs1602277510
|
|
NM_001111125.3(IQSEC2):c.2707G>C (p.Glu903Gln)
|
rs2074317421
|
|
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter)
|
rs2074317360
|
|
NM_001111125.3(IQSEC2):c.2727T>C (p.Asp909=)
|
rs2147080245
|
|
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.2749G>A (p.Gly917Arg)
|
rs2147080183
|
|
NM_001111125.3(IQSEC2):c.2750-7C>T
|
rs1602271589
|
|
NM_001111125.3(IQSEC2):c.2750-9C>T
|
rs1556861395
|
|
NM_001111125.3(IQSEC2):c.2750G>A (p.Gly917Glu)
|
|
|
NM_001111125.3(IQSEC2):c.2750G>C (p.Gly917Ala)
|
|
|
NM_001111125.3(IQSEC2):c.2758A>G (p.Asn920Asp)
|
|
|
NM_001111125.3(IQSEC2):c.2759A>G (p.Asn920Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2760T>C (p.Asn920=)
|
|
|
NM_001111125.3(IQSEC2):c.2770A>G (p.Ile924Val)
|
rs2147060656
|
|
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter)
|
rs1057520858
|
|
NM_001111125.3(IQSEC2):c.2781CCT[1] (p.Leu929del)
|
rs1602271471
|
|
NM_001111125.3(IQSEC2):c.2794A>G (p.Ile932Val)
|
|
|
NM_001111125.3(IQSEC2):c.279C>T (p.Arg93=)
|
|
|
NM_001111125.3(IQSEC2):c.27C>T (p.Gly9=)
|
|
|
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.2819_2823dup (p.Arg942fs)
|
rs2074254630
|
|
NM_001111125.3(IQSEC2):c.2821C>T (p.Leu941=)
|
rs2147060225
|
|
NM_001111125.3(IQSEC2):c.2828C>G (p.Thr943Ser)
|
|
|
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=)
|
rs782519675
|
|
NM_001111125.3(IQSEC2):c.2833G>A (p.Asp945Asn)
|
|
|
NM_001111125.3(IQSEC2):c.2839C>T (p.His947Tyr)
|
|
|
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs)
|
rs2147059978
|
|
NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)
|
|
|
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2853G>A (p.Val951=)
|
rs1602271333
|
|
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)
|
rs1057518993
|
|
NM_001111125.3(IQSEC2):c.2857G>A (p.Ala953Thr)
|
rs1556861324
|
|
NM_001111125.3(IQSEC2):c.2866C>T (p.Arg956Cys)
|
rs2147059598
|
|
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu)
|
rs2074253394
|
|
NM_001111125.3(IQSEC2):c.2869A>G (p.Met957Val)
|
rs2074253394
|
|
NM_001111125.3(IQSEC2):c.2873T>C (p.Ile958Thr)
|
|
|
NM_001111125.3(IQSEC2):c.2889+12G>C
|
|
|
NM_001111125.3(IQSEC2):c.2889+1G>A
|
rs1556861311
|
|
NM_001111125.3(IQSEC2):c.2889+20G>T
|
|
|
NM_001111125.3(IQSEC2):c.288G>A (p.Gln96=)
|
rs2146551593
|
|
NM_001111125.3(IQSEC2):c.2890-13C>T
|
|
|
NM_001111125.3(IQSEC2):c.2890-3T>G
|
rs2147050192
|
|
NM_001111125.3(IQSEC2):c.2890-56A>C
|
rs2274307
|
|
NM_001111125.3(IQSEC2):c.2890-9C>T
|
|
|
NM_001111125.3(IQSEC2):c.2894T>C (p.Leu965Pro)
|
rs1602268775
|
|
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.291C>G (p.Phe97Leu)
|
|
|
NM_001111125.3(IQSEC2):c.2941G>T (p.Val981Leu)
|
|
|
NM_001111125.3(IQSEC2):c.2943G>A (p.Val981=)
|
|
|
NM_001111125.3(IQSEC2):c.2949T>C (p.Asp983=)
|
|
|
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys)
|
rs1556860910
|
|
NM_001111125.3(IQSEC2):c.296del (p.His99fs)
|
rs1064793152
|
|
NM_001111125.3(IQSEC2):c.2977C>T (p.His993Tyr)
|
|
|
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.2984G>C (p.Arg995Pro)
|
|
|
NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly)
|
rs2147049357
|
|
NM_001111125.3(IQSEC2):c.2991C>T (p.Val997=)
|
rs2147049319
|
|
NM_001111125.3(IQSEC2):c.2995C>T (p.Leu999Phe)
|
rs1602268590
|
|
NM_001111125.3(IQSEC2):c.3002A>G (p.Asn1001Ser)
|
|
|
NM_001111125.3(IQSEC2):c.3003T>C (p.Asn1001=)
|
rs2147049244
|
|
NM_001111125.3(IQSEC2):c.3005A>G (p.Asp1002Gly)
|
rs2147049209
|
|
NM_001111125.3(IQSEC2):c.3015+14G>A
|
|
|
NM_001111125.3(IQSEC2):c.3015+15G>A
|
|
|
NM_001111125.3(IQSEC2):c.3015+3A>G
|
|
|
NM_001111125.3(IQSEC2):c.3016-1G>T
|
|
|
NM_001111125.3(IQSEC2):c.3016-1dup
|
rs1556860401
|
|
NM_001111125.3(IQSEC2):c.3016-242A>G
|
rs146633237
|
|
NM_001111125.3(IQSEC2):c.3016-9C>G
|
rs1325334521
|
|
NM_001111125.3(IQSEC2):c.3016G>T (p.Val1006Phe)
|
rs2147033257
|
|
NM_001111125.3(IQSEC2):c.301G>A (p.Glu101Lys)
|
|
|
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile)
|
rs1602264353
|
|
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del)
|
rs1556860396
|
|
NM_001111125.3(IQSEC2):c.3038A>G (p.Lys1013Arg)
|
rs2074181844
|
|
NM_001111125.3(IQSEC2):c.303G>A (p.Glu101=)
|
|
|
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=)
|
rs782748833
|
|
NM_001111125.3(IQSEC2):c.3054G>C (p.Thr1018=)
|
rs782748833
|
|
NM_001111125.3(IQSEC2):c.3055T>C (p.Tyr1019His)
|
|
|
NM_001111125.3(IQSEC2):c.3065G>A (p.Arg1022His)
|
|
|
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs)
|
rs2074181394
|
|
NM_001111125.3(IQSEC2):c.306G>A (p.Leu102=)
|
|
|
NM_001111125.3(IQSEC2):c.3072T>C (p.Ser1024=)
|
rs1602264305
|
|
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs)
|
rs1602264294
|
|
NM_001111125.3(IQSEC2):c.3075C>T (p.Phe1025=)
|
rs1602264279
|
|
NM_001111125.3(IQSEC2):c.3093C>T (p.His1031=)
|
|
|
NM_001111125.3(IQSEC2):c.3097C>T (p.Gln1033Ter)
|
rs878853144
|
|
NM_001111125.3(IQSEC2):c.3099G>A (p.Gln1033=)
|
|
|
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter)
|
rs2147032671
|
|
NM_001111125.3(IQSEC2):c.3115+13T>C
|
|
|
NM_001111125.3(IQSEC2):c.3115T>A (p.Tyr1039Asn)
|
|
|
NM_001111125.3(IQSEC2):c.3116-3_3116-2del
|
rs797045140
|
|
NM_001111125.3(IQSEC2):c.3116-6C>G
|
|
|
NM_001111125.3(IQSEC2):c.3139C>T (p.Leu1047=)
|
|
|
NM_001111125.3(IQSEC2):c.3151C>G (p.Pro1051Ala)
|
|
|
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)
|
rs2147027403
|
|
NM_001111125.3(IQSEC2):c.3164G>A (p.Arg1055Gln)
|
rs1407117835
|
|
NM_001111125.3(IQSEC2):c.3188C>T (p.Ala1063Val)
|
rs2074165930
|
|
NM_001111125.3(IQSEC2):c.318G>A (p.Gln106=)
|
rs2146551348
|
|
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly)
|
rs367700660
|
|
NM_001111125.3(IQSEC2):c.31C>T (p.Pro11Ser)
|
rs1569342169
|
|
NM_001111125.3(IQSEC2):c.3201G>A (p.Gln1067=)
|
|
|
NM_001111125.3(IQSEC2):c.3205C>A (p.Arg1069=)
|
rs797045627
|
|
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro)
|
rs782632137
|
|
NM_001111125.3(IQSEC2):c.3210G>A (p.Leu1070=)
|
|
|
NM_001111125.3(IQSEC2):c.3212G>A (p.Arg1071His)
|
|
|
NM_001111125.3(IQSEC2):c.321_322del (p.Phe107fs)
|
|
|
NM_001111125.3(IQSEC2):c.3222C>T (p.Ser1074=)
|
|
|
NM_001111125.3(IQSEC2):c.3223G>A (p.Asp1075Asn)
|
rs2074165173
|
|
NM_001111125.3(IQSEC2):c.3225C>G (p.Asp1075Glu)
|
|
|
NM_001111125.3(IQSEC2):c.3227T>C (p.Leu1076Pro)
|
|
|
NM_001111125.3(IQSEC2):c.3228G>A (p.Leu1076=)
|
rs1284351565
|
|
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser)
|
rs782569979
|
|
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs)
|
rs2147026571
|
|
NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter)
|
rs1064796614
|
|
NM_001111125.3(IQSEC2):c.3252G>A (p.Gln1084=)
|
|
|
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
|
|
|
NM_001111125.3(IQSEC2):c.3269G>A (p.Arg1090His)
|
rs2074164267
|
|
NM_001111125.3(IQSEC2):c.3277+5G>A
|
rs1064795725
|
|
NM_001111125.3(IQSEC2):c.3278-10T>C
|
rs2147015945
|
|
NM_001111125.3(IQSEC2):c.3278-13G>A
|
|
|
NM_001111125.3(IQSEC2):c.3278-158A>G
|
rs2296541
|
|
NM_001111125.3(IQSEC2):c.3278-5C>G
|
rs1085307630
|
|
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp)
|
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001111125.3(IQSEC2):c.3282G>A (p.Glu1094=)
|
rs2147015788
|
|
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del)
|
rs2147015547
|
|
NM_001111125.3(IQSEC2):c.3296A>G (p.Lys1099Arg)
|
|
|
NM_001111125.3(IQSEC2):c.3301A>G (p.Met1101Val)
|
|
|
NM_001111125.3(IQSEC2):c.3304A>C (p.Met1102Leu)
|
|
|
NM_001111125.3(IQSEC2):c.3316G>A (p.Ala1106Thr)
|
rs2074131912
|
|
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met)
|
rs782558010
|
|
NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser)
|
rs2074131194
|
|
NM_001111125.3(IQSEC2):c.3362C>T (p.Ala1121Val)
|
rs781964002
|
|
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)
|
rs868984872
|
|
NM_001111125.3(IQSEC2):c.3374T>G (p.Leu1125Arg)
|
|
|
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
|
|
|
NM_001111125.3(IQSEC2):c.3386A>T (p.Tyr1129Phe)
|
rs2074130698
|
|
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter)
|
rs374220843
|
|
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter)
|
rs374220843
|
|
NM_001111125.3(IQSEC2):c.339C>A (p.Asp113Glu)
|
|
|
NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met)
|
rs2075423571
|
|
NM_001111125.3(IQSEC2):c.3414C>A (p.Gly1138=)
|
|
|
NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)
|
|
|
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=)
|
rs1602259971
|
|
NM_001111125.3(IQSEC2):c.3429C>T (p.Ser1143=)
|
rs2147014056
|
|
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter)
|
rs1556859652
|
|
NM_001111125.3(IQSEC2):c.3451+1G>C
|
|
|
NM_001111125.3(IQSEC2):c.3452-10G>A
|
|
|
NM_001111125.3(IQSEC2):c.3452-163_3452-161del
|
rs199609782
|
|
NM_001111125.3(IQSEC2):c.3452-17C>T
|
|
|
NM_001111125.3(IQSEC2):c.3452-1G>A
|
rs2147010401
|
|
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.3452-9T>C
|
|
|
NM_001111125.3(IQSEC2):c.3457C>T (p.Arg1153Trp)
|
rs2147010353
|
|
NM_001111125.3(IQSEC2):c.3458G>A (p.Arg1153Gln)
|
|
|
NM_001111125.3(IQSEC2):c.3462G>C (p.Gly1154=)
|
rs1569292427
|
|
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly)
|
rs2074117985
|
|
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)
|
rs2074117985
|
|
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
|
|
|
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=)
|
rs2147010150
|
|
NM_001111125.3(IQSEC2):c.3475G>A (p.Val1159Met)
|
rs2147010117
|
|
NM_001111125.3(IQSEC2):c.3478G>A (p.Gly1160Arg)
|
rs2147010093
|
|
NM_001111125.3(IQSEC2):c.3483G>A (p.Ser1161=)
|
rs781859452
|
|
NM_001111125.3(IQSEC2):c.3499G>T (p.Glu1167Ter)
|
rs2147009961
|
|
NM_001111125.3(IQSEC2):c.3502-12C>T
|
|
|
NM_001111125.3(IQSEC2):c.3502-14C>A
|
|
|
NM_001111125.3(IQSEC2):c.3502-15C>G
|
|
|
NM_001111125.3(IQSEC2):c.3502-19C>A
|
rs782166410
|
|
NM_001111125.3(IQSEC2):c.3502-2del
|
rs1131691650
|
|
NM_001111125.3(IQSEC2):c.3502-9C>T
|
rs2074108627
|
|
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.3546T>G (p.Pro1182=)
|
rs1602258133
|
|
NM_001111125.3(IQSEC2):c.3549G>C (p.Pro1183=)
|
|
|
NM_001111125.3(IQSEC2):c.3552C>G (p.Pro1184=)
|
rs1556859344
|
|
NM_001111125.3(IQSEC2):c.3554C>G (p.Pro1185Arg)
|
rs1556859338
|
|
NM_001111125.3(IQSEC2):c.3554del (p.Pro1185fs)
|
|
|
NM_001111125.3(IQSEC2):c.3557C>G (p.Pro1186Arg)
|
|
|
NM_001111125.3(IQSEC2):c.355C>G (p.Arg119Gly)
|
rs2075423381
|
|
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=)
|
rs1286507586
|
|
NM_001111125.3(IQSEC2):c.3564G>C (p.Pro1188=)
|
rs1489138425
|
|
NM_001111125.3(IQSEC2):c.356G>T (p.Arg119Leu)
|
rs782770335
|
|
NM_001111125.3(IQSEC2):c.3570G>A (p.Glu1190=)
|
|
|
NM_001111125.3(IQSEC2):c.3573G>A (p.Glu1191=)
|
rs1556859307
|
|
NM_001111125.3(IQSEC2):c.3591C>G (p.Pro1197=)
|
|
|
NM_001111125.3(IQSEC2):c.3591C>T (p.Pro1197=)
|
rs909191485
|
|
NM_001111125.3(IQSEC2):c.3599A>G (p.Asn1200Ser)
|
|
|
NM_001111125.3(IQSEC2):c.3602C>T (p.Ser1201Phe)
|
rs2147005416
|
|
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs)
|
rs2147003883
|
|
NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)
|
|
|
NM_001111125.3(IQSEC2):c.3617G>C (p.Gly1206Ala)
|
rs797045628
|
|
NM_001111125.3(IQSEC2):c.3621C>T (p.Ser1207=)
|
|
|
NM_001111125.3(IQSEC2):c.3635A>G (p.Lys1212Arg)
|
|
|
NM_001111125.3(IQSEC2):c.3638G>C (p.Arg1213Pro)
|
rs1556859281
|
|
NM_001111125.3(IQSEC2):c.3640G>A (p.Gly1214Ser)
|
|
|
NM_001111125.3(IQSEC2):c.3662C>A (p.Pro1221Gln)
|
|
|
NM_001111125.3(IQSEC2):c.3665C>T (p.Pro1222Leu)
|
rs2074105508
|
|
NM_001111125.3(IQSEC2):c.3666A>G (p.Pro1222=)
|
rs1602257857
|
|
NM_001111125.3(IQSEC2):c.3668C>A (p.Pro1223Gln)
|
|
|
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.3683C>T (p.Ala1228Val)
|
rs2147004797
|
|
NM_001111125.3(IQSEC2):c.3687T>A (p.Ser1229=)
|
rs1370477854
|
|
NM_001111125.3(IQSEC2):c.3693C>T (p.Ser1231=)
|
rs782095203
|
|
NM_001111125.3(IQSEC2):c.3693_3698del (p.Ser1233_Ser1234del)
|
rs782029247
|
|
NM_001111125.3(IQSEC2):c.3708T>C (p.Ser1236=)
|
|
|
NM_001111125.3(IQSEC2):c.3714G>A (p.Thr1238=)
|
rs1355674546
|
|
NM_001111125.3(IQSEC2):c.3715C>T (p.His1239Tyr)
|
|
|
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.3717CCA[8] (p.His1247dup)
|
rs782189881
|
|
NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs)
|
rs1602257730
|
|
NM_001111125.3(IQSEC2):c.3721C>T (p.His1241Tyr)
|
rs2147004455
|
|
NM_001111125.3(IQSEC2):c.3723C>T (p.His1241=)
|
|
|
NM_001111125.3(IQSEC2):c.3732C>T (p.His1244=)
|
rs932042983
|
|
NM_001111125.3(IQSEC2):c.373A>C (p.Asn125His)
|
|
|
NM_001111125.3(IQSEC2):c.3743G>A (p.Gly1248Asp)
|
|
|
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=)
|
rs782399288
|
|
NM_001111125.3(IQSEC2):c.3766G>A (p.Val1256Met)
|
|
|
NM_001111125.3(IQSEC2):c.3769C>T (p.Leu1257=)
|
rs2074102874
|
|
NM_001111125.3(IQSEC2):c.376C>A (p.Arg126=)
|
|
|
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
|
|
|
NM_001111125.3(IQSEC2):c.3792C>T (p.Leu1264=)
|
|
|
NM_001111125.3(IQSEC2):c.3793C>T (p.Gln1265Ter)
|
rs1064795806
|
|
NM_001111125.3(IQSEC2):c.3798C>A (p.Ala1266=)
|
rs2147003811
|
|
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter)
|
rs1569291699
|
|
NM_001111125.3(IQSEC2):c.3825G>C (p.Pro1275=)
|
rs1057523277
|
|
NM_001111125.3(IQSEC2):c.3832G>A (p.Ala1278Thr)
|
rs1602257496
|
|
NM_001111125.3(IQSEC2):c.3837G>C (p.Pro1279=)
|
|
|
NM_001111125.3(IQSEC2):c.3840A>C (p.Pro1280=)
|
|
|
NM_001111125.3(IQSEC2):c.3840A>T (p.Pro1280=)
|
|
|
NM_001111125.3(IQSEC2):c.3849C>G (p.Leu1283=)
|
rs1556859155
|
|
NM_001111125.3(IQSEC2):c.384T>C (p.Ala128=)
|
|
|
NM_001111125.3(IQSEC2):c.3852A>C (p.Pro1284=)
|
|
|
NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter)
|
rs1569291654
|
|
NM_001111125.3(IQSEC2):c.3859C>T (p.Gln1287Ter)
|
|
|
NM_001111125.3(IQSEC2):c.3864C>G (p.Pro1288=)
|
|
|
NM_001111125.3(IQSEC2):c.3864C>T (p.Pro1288=)
|
|
|
NM_001111125.3(IQSEC2):c.3872C>T (p.Pro1291Leu)
|
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs)
|
rs1569291627
|
|
NM_001111125.3(IQSEC2):c.3884A>T (p.Gln1295Leu)
|
|
|
NM_001111125.3(IQSEC2):c.3886C>T (p.Gln1296Ter)
|
rs1064795460
|
|
NM_001111125.3(IQSEC2):c.3907C>T (p.Leu1303=)
|
|
|
NM_001111125.3(IQSEC2):c.3913T>G (p.Ser1305Ala)
|
|
|
NM_001111125.3(IQSEC2):c.3923C>T (p.Pro1308Leu)
|
rs1260004392
|
|
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=)
|
rs1460397663
|
|
NM_001111125.3(IQSEC2):c.392G>C (p.Arg131Pro)
|
rs1556880174
|
|
NM_001111125.3(IQSEC2):c.3931G>A (p.Ala1311Thr)
|
|
|
NM_001111125.3(IQSEC2):c.3935C>T (p.Ser1312Leu)
|
rs2074099302
|
|
NM_001111125.3(IQSEC2):c.3938C>T (p.Ala1313Val)
|
|
|
NM_001111125.3(IQSEC2):c.3944_3946del (p.Pro1315_Val1316delinsLeu)
|
rs1569291523
|
|
NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys)
|
rs1556859104
|
|
NM_001111125.3(IQSEC2):c.3959G>A (p.Arg1320His)
|
rs2074098874
|
|
NM_001111125.3(IQSEC2):c.3969C>T (p.His1323=)
|
|
|
NM_001111125.3(IQSEC2):c.3973dup (p.His1325fs)
|
|
|
NM_001111125.3(IQSEC2):c.397A>G (p.Lys133Glu)
|
|
|
NM_001111125.3(IQSEC2):c.4000T>C (p.Tyr1334His)
|
rs2147002472
|
|
NM_001111125.3(IQSEC2):c.4002T>A (p.Tyr1334Ter)
|
|
|
NM_001111125.3(IQSEC2):c.4014G>T (p.Arg1338=)
|
|
|
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser)
|
rs1602257111
|
|
NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs)
|
rs1064793569
|
|
NM_001111125.3(IQSEC2):c.4034G>A (p.Arg1345Gln)
|
rs1359566569
|
|
NM_001111125.3(IQSEC2):c.4038G>A (p.Gly1346=)
|
rs2074097744
|
|
NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs)
|
rs1064795512
|
|
NM_001111125.3(IQSEC2):c.4039G>A (p.Ala1347Thr)
|
rs2074097651
|
|
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs)
|
rs1064795512
|
|
NM_001111125.3(IQSEC2):c.4041T>C (p.Ala1347=)
|
rs2147002214
|
|
NM_001111125.3(IQSEC2):c.4044A>C (p.Gly1348=)
|
|
|
NM_001111125.3(IQSEC2):c.4051C>T (p.Pro1351Ser)
|
rs1033962543
|
|
NM_001111125.3(IQSEC2):c.4056G>C (p.Gln1352His)
|
|
|
NM_001111125.3(IQSEC2):c.4063C>T (p.Pro1355Ser)
|
|
|
NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)
|
|
|
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs)
|
rs2074096700
|
|
NM_001111125.3(IQSEC2):c.4093A>C (p.Thr1365Pro)
|
rs2147001902
|
|
NM_001111125.3(IQSEC2):c.4098C>G (p.Ser1366=)
|
rs1200431219
|
|
NM_001111125.3(IQSEC2):c.409G>A (p.Ala137Thr)
|
rs2146550740
|
|
NM_001111125.3(IQSEC2):c.4106C>T (p.Pro1369Leu)
|
|
|
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=)
|
rs1214109386
|
|
NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter)
|
rs781846571
|
|
NM_001111125.3(IQSEC2):c.4115G>A (p.Ser1372Asn)
|
|
|
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=)
|
rs1602256870
|
|
NM_001111125.3(IQSEC2):c.4120G>A (p.Ala1374Thr)
|
rs2074096260
|
|
NM_001111125.3(IQSEC2):c.4122C>A (p.Ala1374=)
|
rs2147001768
|
|
NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)
|
|
|
NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr)
|
rs1556859050
|
|
NM_001111125.3(IQSEC2):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_001111125.3(IQSEC2):c.4138G>A (p.Ala1380Thr)
|
|
|
NM_001111125.3(IQSEC2):c.4145A>T (p.Lys1382Ile)
|
rs2074095926
|
|
NM_001111125.3(IQSEC2):c.4151G>T (p.Gly1384Val)
|
|
|
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser)
|
rs1556859040
|
|
NM_001111125.3(IQSEC2):c.4155T>C (p.Pro1385=)
|
rs1602256804
|
|
NM_001111125.3(IQSEC2):c.4165A>G (p.Ile1389Val)
|
|
|
NM_001111125.3(IQSEC2):c.4174C>T (p.His1392Tyr)
|
|
|
NM_001111125.3(IQSEC2):c.4185G>A (p.Gln1395=)
|
|
|
NM_001111125.3(IQSEC2):c.4200A>G (p.Ala1400=)
|
rs1602256754
|
|
NM_001111125.3(IQSEC2):c.4203C>G (p.Gly1401=)
|
rs1556859024
|
|
NM_001111125.3(IQSEC2):c.4203C>T (p.Gly1401=)
|
|
|
NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)
|
|
|
NM_001111125.3(IQSEC2):c.4206G>C (p.Ala1402=)
|
rs1057521782
|
|
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs)
|
rs2147001369
|
|
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His)
|
rs1569291207
|
|
NM_001111125.3(IQSEC2):c.4220G>C (p.Gly1407Ala)
|
rs2147001280
|
|
NM_001111125.3(IQSEC2):c.4224C>T (p.Ser1408=)
|
rs1602256714
|
|
NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)
|
|
|
NM_001111125.3(IQSEC2):c.4228C>A (p.Pro1410Thr)
|
rs2074094532
|
|
NM_001111125.3(IQSEC2):c.4233A>G (p.Pro1411=)
|
rs1602256699
|
|
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=)
|
rs1556859017
|
|
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
|
|
|
NM_001111125.3(IQSEC2):c.4250A>C (p.His1417Pro)
|
rs1400894251
|
|
NM_001111125.3(IQSEC2):c.4252C>T (p.Pro1418Ser)
|
rs1556859015
|
|
NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs)
|
rs1602256663
|
|
NM_001111125.3(IQSEC2):c.4256A>C (p.His1419Pro)
|
|
|
NM_001111125.3(IQSEC2):c.4264C>A (p.Gln1422Lys)
|
|
|
NM_001111125.3(IQSEC2):c.4264_4265del (p.Gln1422fs)
|
rs2147000956
|
|
NM_001111125.3(IQSEC2):c.4281A>G (p.Pro1427=)
|
|
|
NM_001111125.3(IQSEC2):c.4284C>T (p.His1428=)
|
rs2074093429
|
|
NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs)
|
rs2147000837
|
|
NM_001111125.3(IQSEC2):c.428A>T (p.Asp143Val)
|
rs2146550650
|
|
NM_001111125.3(IQSEC2):c.4296A>C (p.Pro1432=)
|
rs868908850
|
|
NM_001111125.3(IQSEC2):c.4300del (p.His1434fs)
|
rs1064795324
|
|
NM_001111125.3(IQSEC2):c.4310A>G (p.Tyr1437Cys)
|
|
|
NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=)
|
rs587780360
|
|
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs)
|
rs2074091750
|
|
NM_001111125.3(IQSEC2):c.4332C>A (p.Ser1444=)
|
rs1556858979
|
|
NM_001111125.3(IQSEC2):c.4332C>T (p.Ser1444=)
|
|
|
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs)
|
rs2147000428
|
|
NM_001111125.3(IQSEC2):c.4335T>C (p.Pro1445=)
|
rs1602256403
|
|
NM_001111125.3(IQSEC2):c.4343C>T (p.Pro1448Leu)
|
|
|
NM_001111125.3(IQSEC2):c.4344G>A (p.Pro1448=)
|
rs868922938
|
|
NM_001111125.3(IQSEC2):c.4344G>T (p.Pro1448=)
|
|
|
NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)
|
|
|
NM_001111125.3(IQSEC2):c.434C>G (p.Thr145Ser)
|
rs1308523144
|
|
NM_001111125.3(IQSEC2):c.4350A>G (p.Ser1450=)
|
|
|
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=)
|
rs1556858970
|
|
NM_001111125.3(IQSEC2):c.4356T>G (p.Leu1452=)
|
|
|
NM_001111125.3(IQSEC2):c.4362C>T (p.Pro1454=)
|
rs1556858960
|
|
NM_001111125.3(IQSEC2):c.4368C>T (p.Ser1456=)
|
|
|
NM_001111125.3(IQSEC2):c.4372C>A (p.His1458Asn)
|
rs2147000170
|
|
NM_001111125.3(IQSEC2):c.437G>A (p.Gly146Asp)
|
|
|
NM_001111125.3(IQSEC2):c.4380G>A (p.Pro1460=)
|
rs1332852634
|
|
NM_001111125.3(IQSEC2):c.4384C>T (p.His1462Tyr)
|
|
|
NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)
|
|
|
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=)
|
rs1556880144
|
|
NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro)
|
rs1602256252
|
|
NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys)
|
rs1556858946
|
|
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs)
|
rs2146999877
|
|
NM_001111125.3(IQSEC2):c.4407A>G (p.Thr1469=)
|
rs1556858934
|
|
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs)
|
rs2146999914
|
|
NM_001111125.3(IQSEC2):c.4416C>T (p.Pro1472=)
|
rs797045631
|
|
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs)
|
rs1569290954
|
|
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)
|
rs1569290954
|
|
NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu)
|
rs2146999756
|
|
NM_001111125.3(IQSEC2):c.4433del (p.Lys1478fs)
|
|
|
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs)
|
rs1556858912
|
|
NM_001111125.3(IQSEC2):c.4446C>T (p.Ser1482=)
|
|
|
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
|
|
|
NM_001111125.3(IQSEC2):c.4455C>T (p.Ser1485=)
|
|
|
NM_001111125.3(IQSEC2):c.4457C>T (p.Thr1486Ile)
|
rs2146999666
|
|
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.447C>T (p.Ala149=)
|
|
|
NM_001111125.3(IQSEC2):c.448C>A (p.Arg150Ser)
|
|
|
NM_001111125.3(IQSEC2):c.44G>A (p.Ser15Asn)
|
|
|
NM_001111125.3(IQSEC2):c.44G>C (p.Ser15Thr)
|
|
|
NM_001111125.3(IQSEC2):c.454C>G (p.Arg152Gly)
|
rs2075421810
|
|
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met)
|
rs2075421767
|
|
NM_001111125.3(IQSEC2):c.487_531del (p.Asn163_Pro177del)
|
rs2075420581
|
|
NM_001111125.3(IQSEC2):c.499G>A (p.Gly167Ser)
|
|
|
NM_001111125.3(IQSEC2):c.500G>A (p.Gly167Asp)
|
rs2146550039
|
|
NM_001111125.3(IQSEC2):c.503G>T (p.Arg168Leu)
|
rs1057518254
|
|
NM_001111125.3(IQSEC2):c.504C>G (p.Arg168=)
|
rs1556880099
|
|
NM_001111125.3(IQSEC2):c.505G>C (p.Glu169Gln)
|
|
|
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=)
|
rs1556880086
|
|
NM_001111125.3(IQSEC2):c.525C>T (p.Ala175=)
|
rs2146549736
|
|
NM_001111125.3(IQSEC2):c.529C>A (p.Pro177Thr)
|
|
|
NM_001111125.3(IQSEC2):c.52C>T (p.Arg18Trp)
|
|
|
NM_001111125.3(IQSEC2):c.533C>T (p.Ala178Val)
|
|
|
NM_001111125.3(IQSEC2):c.539C>T (p.Pro180Leu)
|
|
|
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs)
|
rs1602383045
|
|
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
|
|
|
NM_001111125.3(IQSEC2):c.548A>C (p.Glu183Ala)
|
|
|
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs)
|
rs1556880284
|
|
NM_001111125.3(IQSEC2):c.565T>G (p.Ser189Ala)
|
|
|
NM_001111125.3(IQSEC2):c.567G>A (p.Ser189=)
|
rs782020682
|
|
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=)
|
rs2146549172
|
|
NM_001111125.3(IQSEC2):c.573G>C (p.Ala191=)
|
rs2146549172
|
|
NM_001111125.3(IQSEC2):c.57C>G (p.Ala19=)
|
rs1432737111
|
|
NM_001111125.3(IQSEC2):c.586_707+728del
|
rs2146544783
|
|
NM_001111125.3(IQSEC2):c.587C>A (p.Pro196Gln)
|
rs2075419503
|
|
NM_001111125.3(IQSEC2):c.590G>T (p.Arg197Leu)
|
rs2075419421
|
|
NM_001111125.3(IQSEC2):c.596C>A (p.Pro199Gln)
|
|
|
NM_001111125.3(IQSEC2):c.598C>G (p.Arg200Gly)
|
rs1602382928
|
|
NM_001111125.3(IQSEC2):c.599G>C (p.Arg200Pro)
|
rs1057519497
|
|
NM_001111125.3(IQSEC2):c.619C>A (p.Arg207Ser)
|
rs1295281780
|
|
NM_001111125.3(IQSEC2):c.619C>T (p.Arg207Cys)
|
|
|
NM_001111125.3(IQSEC2):c.620G>A (p.Arg207His)
|
rs1556879985
|
|
NM_001111125.3(IQSEC2):c.624C>A (p.Gly208=)
|
|
|
NM_001111125.3(IQSEC2):c.625_626delinsAT (p.Ala209Ile)
|
rs2075418559
|
|
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs)
|
rs2146548468
|
|
NM_001111125.3(IQSEC2):c.628T>A (p.Ser210Thr)
|
|
|
NM_001111125.3(IQSEC2):c.641G>A (p.Ser214Asn)
|
|
|
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser)
|
rs1037744173
|
|
NM_001111125.3(IQSEC2):c.645C>T (p.Pro215=)
|
|
|
NM_001111125.3(IQSEC2):c.649G>T (p.Ala217Ser)
|
|
|
NM_001111125.3(IQSEC2):c.659G>T (p.Gly220Val)
|
rs2075417861
|
|
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
|
|
|
NM_001111125.3(IQSEC2):c.681C>T (p.Thr227=)
|
rs2146548006
|
|
NM_001111125.3(IQSEC2):c.687G>C (p.Pro229=)
|
rs2146547926
|
|
NM_001111125.3(IQSEC2):c.692C>T (p.Thr231Met)
|
|
|
NM_001111125.3(IQSEC2):c.702G>A (p.Gln234=)
|
rs2146547865
|
|
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
|
|
|
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs)
|
rs2146547822
|
|
NM_001111125.3(IQSEC2):c.707+12G>T
|
|
|
NM_001111125.3(IQSEC2):c.707+6G>A
|
|
|
NM_001111125.3(IQSEC2):c.708-13G>A
|
|
|
NM_001111125.3(IQSEC2):c.708-16T>C
|
|
|
NM_001111125.3(IQSEC2):c.708-18dup
|
rs782120447
|
|
NM_001111125.3(IQSEC2):c.708-19_708-18del
|
|
|
NM_001111125.3(IQSEC2):c.713A>T (p.Asp238Val)
|
rs2146425989
|
|
NM_001111125.3(IQSEC2):c.727A>G (p.Arg243Gly)
|
|
|
NM_001111125.3(IQSEC2):c.737+11962CTCC[5]
|
rs200286632
|
|
NM_001111125.3(IQSEC2):c.737+16C>G
|
|
|
NM_001111125.3(IQSEC2):c.738-1G>A
|
|
|
NM_001111125.3(IQSEC2):c.738-5C>T
|
rs2147129385
|
|
NM_001111125.3(IQSEC2):c.738-9T>A
|
|
|
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly)
|
rs2075427734
|
|
NM_001111125.3(IQSEC2):c.750T>C (p.Asp250=)
|
|
|
NM_001111125.3(IQSEC2):c.756A>G (p.Pro252=)
|
|
|
NM_001111125.3(IQSEC2):c.765C>A (p.Asp255Glu)
|
|
|
NM_001111125.3(IQSEC2):c.765C>T (p.Asp255=)
|
|
|
NM_001111125.3(IQSEC2):c.775G>A (p.Ala259Thr)
|
rs2147129010
|
|
NM_001111125.3(IQSEC2):c.776C>T (p.Ala259Val)
|
|
|
NM_001111125.3(IQSEC2):c.778G>A (p.Val260Ile)
|
rs1556865162
|
|
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter)
|
rs1602293823
|
|
NM_001111125.3(IQSEC2):c.800C>T (p.Pro267Leu)
|
|
|
NM_001111125.3(IQSEC2):c.801C>G (p.Pro267=)
|
rs2074461496
|
|
NM_001111125.3(IQSEC2):c.801C>T (p.Pro267=)
|
|
|
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His)
|
rs368559547
|
|
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)
|
rs886041481
|
|
NM_001111125.3(IQSEC2):c.808C>T (p.Arg270Trp)
|
rs1602293814
|
|
NM_001111125.3(IQSEC2):c.822G>A (p.Leu274=)
|
|
|
NM_001111125.3(IQSEC2):c.823C>A (p.Pro275Thr)
|
|
|
NM_001111125.3(IQSEC2):c.826C>G (p.Pro276Ala)
|
|
|
NM_001111125.3(IQSEC2):c.826C>T (p.Pro276Ser)
|
|
|
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.838C>T (p.His280Tyr)
|
|
|
NM_001111125.3(IQSEC2):c.848G>A (p.Gly283Asp)
|
rs1241595562
|
|
NM_001111125.3(IQSEC2):c.848G>C (p.Gly283Ala)
|
rs1241595562
|
|
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)
|
rs782660318
|
|
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs)
|
rs782660318
|
|
NM_001111125.3(IQSEC2):c.850C>A (p.Pro284Thr)
|
rs782531514
|
|
NM_001111125.3(IQSEC2):c.852C>T (p.Pro284=)
|
rs1280970744
|
|
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
|
|
|
NM_001111125.3(IQSEC2):c.856G>A (p.Ala286Thr)
|
|
|
NM_001111125.3(IQSEC2):c.862G>A (p.Val288Met)
|
|
|
NM_001111125.3(IQSEC2):c.863del (p.Val288fs)
|
rs1556865060
|
|
NM_001111125.3(IQSEC2):c.880C>T (p.Gln294Ter)
|
|
|
NM_001111125.3(IQSEC2):c.882G>C (p.Gln294His)
|
|
|
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.890G>A (p.Arg297His)
|
|
|
NM_001111125.3(IQSEC2):c.89T>C (p.Ile30Thr)
|
rs2146553075
|
|
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)
|
|
|
NM_001111125.3(IQSEC2):c.908T>G (p.Val303Gly)
|
|
|
NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser)
|
rs782768117
|
|
NM_001111125.3(IQSEC2):c.912C>T (p.Ala304=)
|
rs2147127620
|
|
NM_001111125.3(IQSEC2):c.936G>A (p.Glu312=)
|
rs2074458569
|
|
NM_001111125.3(IQSEC2):c.937A>C (p.Ile313Leu)
|
|
|
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs)
|
rs1602293475
|
|
NM_001111125.3(IQSEC2):c.942G>A (p.Lys314=)
|
rs1556865007
|
|
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs)
|
rs2147127449
|
|
NM_001111125.3(IQSEC2):c.944G>A (p.Arg315His)
|
|
|
NM_001111125.3(IQSEC2):c.952G>T (p.Ala318Ser)
|
|
|
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)
|
rs2074458024
|
|
NM_001111125.3(IQSEC2):c.959C>T (p.Ser320Leu)
|
|
|
NM_001111125.3(IQSEC2):c.960G>A (p.Ser320=)
|
|
|
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=)
|
rs782062867
|
|
NM_001111125.3(IQSEC2):c.965G>A (p.Ser322Asn)
|
rs781915659
|
|
NM_001111125.3(IQSEC2):c.968A>G (p.Tyr323Cys)
|
|
|
NM_001111125.3(IQSEC2):c.96C>T (p.Ser32=)
|
|
|
NM_001111125.3(IQSEC2):c.999+11G>A
|
rs1602293293
|
|
NM_001111125.3(IQSEC2):c.999+12G>A
|
|
|
NM_001111125.3(IQSEC2):c.999+7C>T
|
|
|
NM_001243197.1(IQSEC2):c.123-2226_*20117dup
|
|
|
NM_001243197.2(IQSEC2):c.100T>C (p.Ser34Pro)
|
|
|
NM_001243197.2(IQSEC2):c.117G>C (p.Glu39Asp)
|
|
|
NM_001243197.2(IQSEC2):c.12C>G (p.Pro4=)
|
rs1203913557
|
|
NM_001243197.2(IQSEC2):c.12C>T (p.Pro4=)
|
|
|
NM_001243197.2(IQSEC2):c.12dup (p.Gly5fs)
|
rs1252463400
|
|
NM_001243197.2(IQSEC2):c.13G>A (p.Gly5Arg)
|
|
|
NM_001243197.2(IQSEC2):c.73G>C (p.Val25Leu)
|
|
|