NM_023036.6(DNAI2):c.1722+78G>A
|
rs1979371
|
0.95718
|
NM_023036.6(DNAI2):c.345+27A>G
|
rs6501706
|
0.95682
|
NM_023036.6(DNAI2):c.1722+41C>T
|
rs4239009
|
0.84832
|
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr)
|
rs1979370
|
0.77449
|
NM_023036.6(DNAI2):c.1722+34G>A
|
rs4239008
|
0.75821
|
NM_023036.6(DNAI2):c.-54A>G
|
rs1877687
|
0.53697
|
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=)
|
rs8073660
|
0.50668
|
NM_023036.6(DNAI2):c.1347+7C>T
|
rs2290955
|
0.46912
|
NM_023036.6(DNAI2):c.-11-67A>G
|
rs3803792
|
0.36694
|
NM_023036.6(DNAI2):c.865-5A>G
|
rs8076337
|
0.32904
|
NM_023036.6(DNAI2):c.865-81C>T
|
rs34880269
|
0.31881
|
NM_023036.6(DNAI2):c.-72_-63del
|
rs5822035
|
0.25810
|
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile)
|
rs28725418
|
0.17848
|
NM_023036.6(DNAI2):c.834C>T (p.Thr278=)
|
rs34159194
|
0.12850
|
NM_023036.6(DNAI2):c.610+31G>A
|
rs62065707
|
0.12287
|
NM_023036.6(DNAI2):c.467+77G>T
|
rs12452656
|
0.10701
|
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)
|
rs34392071
|
0.04853
|
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=)
|
rs59499600
|
0.01236
|
NM_023036.6(DNAI2):c.55+6G>A
|
rs118104009
|
0.01132
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=)
|
rs144035254
|
0.00581
|
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)
|
rs61736879
|
0.00529
|
NM_023036.6(DNAI2):c.865-18C>T
|
rs117075898
|
0.00470
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00458
|
NM_023036.6(DNAI2):c.124G>A (p.Val42Met)
|
rs151176313
|
0.00389
|
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)
|
rs145798624
|
0.00383
|
NM_023036.6(DNAI2):c.759G>A (p.Ala253=)
|
rs142656395
|
0.00370
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_023036.6(DNAI2):c.*299A>G
|
rs189443329
|
0.00213
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)
|
rs117932646
|
0.00161
|
NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu)
|
rs144786630
|
0.00121
|
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
|
rs147470752
|
0.00092
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00087
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)
|
rs2279122
|
0.00066
|
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)
|
rs150710001
|
0.00050
|
NM_023036.6(DNAI2):c.1380G>T (p.Val460=)
|
rs148947094
|
0.00043
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_023036.6(DNAI2):c.1516C>A (p.Arg506=)
|
rs141581673
|
0.00029
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)
|
rs551163932
|
0.00025
|
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)
|
rs141079076
|
0.00024
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00022
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00021
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
NM_023036.6(DNAI2):c.989C>T (p.Pro330Leu)
|
rs778774910
|
0.00020
|
NM_023036.6(DNAI2):c.1179A>G (p.Glu393=)
|
rs146478497
|
0.00019
|
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)
|
rs201925425
|
0.00019
|
NM_023036.6(DNAI2):c.1804G>A (p.Glu602Lys)
|
rs532046902
|
0.00019
|
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=)
|
rs748264709
|
0.00017
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00016
|
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His)
|
rs138489039
|
0.00014
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00014
|
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)
|
rs199817659
|
0.00014
|
NM_023036.6(DNAI2):c.822G>A (p.Ser274=)
|
rs140295057
|
0.00014
|
NM_023036.6(DNAI2):c.1264G>A (p.Val422Ile)
|
rs201801542
|
0.00012
|
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)
|
rs200861036
|
0.00011
|
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile)
|
rs200358267
|
0.00011
|
NM_023036.6(DNAI2):c.-21C>T
|
rs753355539
|
0.00010
|
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln)
|
rs182986650
|
0.00010
|
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp)
|
rs371226659
|
0.00010
|
NM_023036.6(DNAI2):c.1485A>G (p.Val495=)
|
rs200587166
|
0.00009
|
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)
|
rs142710343
|
0.00009
|
NM_023036.6(DNAI2):c.231C>T (p.Val77=)
|
rs370352545
|
0.00009
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)
|
rs144909415
|
0.00008
|
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=)
|
rs139319121
|
0.00007
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
NM_023036.6(DNAI2):c.284G>A (p.Arg95His)
|
rs201521142
|
0.00007
|
NM_023036.6(DNAI2):c.610+12C>T
|
rs374447879
|
0.00007
|
NM_023036.6(DNAI2):c.-17C>A
|
rs754497256
|
0.00006
|
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)
|
rs779742315
|
0.00006
|
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)
|
rs148885547
|
0.00006
|
NM_023036.6(DNAI2):c.1495-4C>A
|
rs765760420
|
0.00006
|
NM_023036.6(DNAI2):c.1517G>A (p.Arg506Gln)
|
rs758710603
|
0.00006
|
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp)
|
rs377582813
|
0.00006
|
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met)
|
rs373090022
|
0.00006
|
NM_023036.6(DNAI2):c.396G>A (p.Glu132=)
|
rs777369529
|
0.00006
|
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys)
|
rs375896715
|
0.00005
|
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met)
|
rs374715330
|
0.00005
|
NM_023036.6(DNAI2):c.467+3A>G
|
rs751915388
|
0.00005
|
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn)
|
rs776667942
|
0.00005
|
NM_023036.6(DNAI2):c.865-11C>T
|
rs774483437
|
0.00005
|
NM_023036.6(DNAI2):c.1011C>T (p.Thr337=)
|
rs768490008
|
0.00004
|
NM_023036.6(DNAI2):c.1044G>A (p.Lys348=)
|
rs775726145
|
0.00004
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)
|
rs556547267
|
0.00004
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00004
|
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn)
|
rs368225621
|
0.00004
|
NM_023036.6(DNAI2):c.1375C>T (p.Arg459Trp)
|
rs1305647043
|
0.00004
|
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=)
|
rs143723454
|
0.00004
|
NM_023036.6(DNAI2):c.1446G>T (p.Ser482=)
|
rs368217836
|
0.00004
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
NM_023036.6(DNAI2):c.159C>T (p.Cys53=)
|
rs141118738
|
0.00004
|
NM_023036.6(DNAI2):c.162G>A (p.Ser54=)
|
rs199562768
|
0.00004
|
NM_023036.6(DNAI2):c.1632G>A (p.Leu544=)
|
rs370359274
|
0.00004
|
NM_023036.6(DNAI2):c.1713G>A (p.Thr571=)
|
rs377499410
|
0.00004
|
NM_023036.6(DNAI2):c.1723-13T>C
|
rs374057086
|
0.00004
|
NM_023036.6(DNAI2):c.324C>T (p.Asn108=)
|
rs762726791
|
0.00004
|
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr)
|
rs192790912
|
0.00004
|
NM_023036.6(DNAI2):c.408C>T (p.Asp136=)
|
rs770624431
|
0.00004
|
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser)
|
rs749303157
|
0.00004
|
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp)
|
rs138885031
|
0.00004
|
NM_023036.6(DNAI2):c.610+13G>A
|
rs368636962
|
0.00004
|
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)
|
rs368232107
|
0.00004
|
NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter)
|
rs545536618
|
0.00004
|
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)
|
rs137852998
|
0.00004
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_023036.6(DNAI2):c.*138C>A
|
rs140358589
|
0.00003
|
NM_023036.6(DNAI2):c.1023C>T (p.Ile341=)
|
rs749432259
|
0.00003
|
NM_023036.6(DNAI2):c.1104C>T (p.Tyr368=)
|
rs1021470707
|
0.00003
|
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala)
|
rs772185024
|
0.00003
|
NM_023036.6(DNAI2):c.1212-6C>T
|
rs751745489
|
0.00003
|
NM_023036.6(DNAI2):c.1278C>T (p.Thr426=)
|
rs370421003
|
0.00003
|
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=)
|
rs371989598
|
0.00003
|
NM_023036.6(DNAI2):c.1494+9C>T
|
rs1255545139
|
0.00003
|
NM_023036.6(DNAI2):c.1659C>T (p.Phe553=)
|
rs372259857
|
0.00003
|
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=)
|
rs767757416
|
0.00003
|
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp)
|
rs1162719665
|
0.00003
|
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)
|
rs761389658
|
0.00003
|
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly)
|
rs753284790
|
0.00003
|
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)
|
rs761171314
|
0.00003
|
NM_023036.6(DNAI2):c.657C>T (p.Leu219=)
|
rs539461253
|
0.00003
|
NM_023036.6(DNAI2):c.864+4C>T
|
rs773061334
|
0.00003
|
NM_023036.6(DNAI2):c.*19G>A
|
rs757199467
|
0.00002
|
NM_023036.6(DNAI2):c.1095C>T (p.Gly365=)
|
rs746037775
|
0.00002
|
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr)
|
rs1263482357
|
0.00002
|
NM_023036.6(DNAI2):c.1348-1G>A
|
rs745755917
|
0.00002
|
NM_023036.6(DNAI2):c.1432C>T (p.Leu478=)
|
rs746968131
|
0.00002
|
NM_023036.6(DNAI2):c.147G>T (p.Thr49=)
|
rs369017940
|
0.00002
|
NM_023036.6(DNAI2):c.1575G>A (p.Ala525=)
|
rs767324607
|
0.00002
|
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=)
|
rs376265471
|
0.00002
|
NM_023036.6(DNAI2):c.1671C>T (p.Phe557=)
|
rs766594632
|
0.00002
|
NM_023036.6(DNAI2):c.21C>T (p.Tyr7=)
|
rs764381446
|
0.00002
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00002
|
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys)
|
rs112650114
|
0.00002
|
NM_023036.6(DNAI2):c.546C>A (p.Tyr182Ter)
|
rs770946088
|
0.00002
|
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln)
|
rs552610697
|
0.00002
|
NM_023036.6(DNAI2):c.610+1G>A
|
rs758109864
|
0.00002
|
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln)
|
rs768312326
|
0.00002
|
NM_023036.6(DNAI2):c.85A>G (p.Ile29Val)
|
rs747104814
|
0.00002
|
NM_023036.6(DNAI2):c.87C>T (p.Ile29=)
|
rs768747332
|
0.00002
|
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val)
|
rs374277039
|
0.00002
|
NM_023036.6(DNAI2):c.-22G>A
|
rs551715321
|
0.00001
|
NM_023036.6(DNAI2):c.1017G>A (p.Gln339=)
|
rs191031963
|
0.00001
|
NM_023036.6(DNAI2):c.1071G>A (p.Val357=)
|
rs2053119347
|
0.00001
|
NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro)
|
rs2051413297
|
0.00001
|
NM_023036.6(DNAI2):c.1128C>T (p.Tyr376=)
|
rs2053124377
|
0.00001
|
NM_023036.6(DNAI2):c.1212-10C>T
|
rs372522923
|
0.00001
|
NM_023036.6(DNAI2):c.1326C>T (p.Cys442=)
|
rs537816710
|
0.00001
|
NM_023036.6(DNAI2):c.1347+13T>G
|
rs534223470
|
0.00001
|
NM_023036.6(DNAI2):c.1347+1G>T
|
rs1567875399
|
0.00001
|
NM_023036.6(DNAI2):c.1347+6G>A
|
rs769832640
|
0.00001
|
NM_023036.6(DNAI2):c.1368C>T (p.Phe456=)
|
rs773370913
|
0.00001
|
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)
|
rs756868374
|
0.00001
|
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg)
|
rs765028301
|
0.00001
|
NM_023036.6(DNAI2):c.1420G>A (p.Gly474Arg)
|
rs878855078
|
0.00001
|
NM_023036.6(DNAI2):c.1482C>T (p.Asn494=)
|
rs1441537699
|
0.00001
|
NM_023036.6(DNAI2):c.1530G>A (p.Leu510=)
|
rs747447796
|
0.00001
|
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp)
|
rs748717910
|
0.00001
|
NM_023036.6(DNAI2):c.1596G>A (p.Gln532=)
|
rs372751337
|
0.00001
|
NM_023036.6(DNAI2):c.15C>T (p.Tyr5=)
|
rs760845605
|
0.00001
|
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=)
|
rs376541043
|
0.00001
|
NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val)
|
rs794727074
|
0.00001
|
NM_023036.6(DNAI2):c.1650G>A (p.Glu550=)
|
rs760520336
|
0.00001
|
NM_023036.6(DNAI2):c.1697del (p.Asp566fs)
|
rs764971993
|
0.00001
|
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr)
|
rs778391861
|
0.00001
|
NM_023036.6(DNAI2):c.1758G>A (p.Glu586=)
|
rs375973900
|
0.00001
|
NM_023036.6(DNAI2):c.1790del (p.Asp597fs)
|
rs751056551
|
0.00001
|
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln)
|
rs200668134
|
0.00001
|
NM_023036.6(DNAI2):c.252C>T (p.Asp84=)
|
rs778114743
|
0.00001
|
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys)
|
rs1200979339
|
0.00001
|
NM_023036.6(DNAI2):c.270G>A (p.Leu90=)
|
rs1002722809
|
0.00001
|
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=)
|
rs764812763
|
0.00001
|
NM_023036.6(DNAI2):c.346-4C>T
|
rs1385898478
|
0.00001
|
NM_023036.6(DNAI2):c.378C>T (p.Ala126=)
|
rs1490406659
|
0.00001
|
NM_023036.6(DNAI2):c.380T>C (p.Ile127Thr)
|
rs372975955
|
0.00001
|
NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter)
|
rs772133192
|
0.00001
|
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)
|
rs758997612
|
0.00001
|
NM_023036.6(DNAI2):c.45G>A (p.Gly15=)
|
rs751121542
|
0.00001
|
NM_023036.6(DNAI2):c.467+10T>C
|
rs377310209
|
0.00001
|
NM_023036.6(DNAI2):c.467+5C>T
|
rs529401265
|
0.00001
|
NM_023036.6(DNAI2):c.468-8C>T
|
rs1598289254
|
0.00001
|
NM_023036.6(DNAI2):c.498A>G (p.Thr166=)
|
rs1214535826
|
0.00001
|
NM_023036.6(DNAI2):c.516C>T (p.Pro172=)
|
rs561911124
|
0.00001
|
NM_023036.6(DNAI2):c.521G>A (p.Gly174Asp)
|
rs978797882
|
0.00001
|
NM_023036.6(DNAI2):c.57T>C (p.Asn19=)
|
rs746568626
|
0.00001
|
NM_023036.6(DNAI2):c.664T>C (p.Leu222=)
|
rs765870884
|
0.00001
|
NM_023036.6(DNAI2):c.678C>T (p.Pro226=)
|
rs1049187015
|
0.00001
|
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)
|
rs780116486
|
0.00001
|
NM_023036.6(DNAI2):c.720G>A (p.Gln240=)
|
rs755223435
|
0.00001
|
NM_023036.6(DNAI2):c.725-2A>C
|
rs1448501611
|
0.00001
|
NM_023036.6(DNAI2):c.725-5A>G
|
rs1262236006
|
0.00001
|
NM_023036.6(DNAI2):c.725-6C>A
|
rs374155875
|
0.00001
|
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)
|
rs755060592
|
0.00001
|
NM_023036.6(DNAI2):c.741A>G (p.Arg247=)
|
rs1464997999
|
0.00001
|
NM_023036.6(DNAI2):c.75C>G (p.Ala25=)
|
rs749172812
|
0.00001
|
NM_023036.6(DNAI2):c.849T>C (p.Ala283=)
|
rs531514142
|
0.00001
|
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala)
|
rs761883293
|
0.00001
|
NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter)
|
rs200708870
|
0.00001
|
NM_023036.6(DNAI2):c.900C>T (p.Pro300=)
|
rs752020598
|
0.00001
|
NM_023036.6(DNAI2):c.947A>T (p.Asn316Ile)
|
rs774323743
|
0.00001
|
NM_023036.6(DNAI2):c.975C>T (p.Phe325=)
|
rs1217838487
|
0.00001
|
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)
|
rs763193003
|
0.00001
|
NC_000017.10:g.(?_72277936)_(72281350_?)del
|
|
|
NC_000017.10:g.(?_72277937)_(72310375_?)dup
|
|
|
NC_000017.10:g.(?_72277946)_(72310410_?)dup
|
|
|
NC_000017.10:g.(?_72277957)_(72310355_?)dup
|
|
|
NC_000017.10:g.(?_72281159)_(72283257_?)dup
|
|
|
NC_000017.10:g.(?_72283106)_(72283247_?)del
|
|
|
NC_000017.10:g.(?_72283110)_(72283243_?)dup
|
|
|
NC_000017.10:g.(?_72285723)_(72287282_?)del
|
|
|
NC_000017.10:g.(?_72295837)_(72297327_?)del
|
|
|
NC_000017.10:g.(?_72295847)_(72296006_?)del
|
|
|
NC_000017.10:g.(?_72295847)_(72309109_?)dup
|
|
|
NC_000017.10:g.(?_72297175)_(72301591_?)dup
|
|
|
NC_000017.10:g.(?_72305382)_(72306312_?)del
|
|
|
NC_000017.11:g.(?_74274200)_(74289746_?)del
|
|
|
NC_000017.11:g.(?_74299698)_(74305462_?)del
|
|
|
NC_000017.11:g.(?_74299708)_(74305452_?)del
|
|
|
NC_000017.11:g.(?_74309243)_(74310173_?)dup
|
|
|
NC_000017.11:g.74285040del
|
|
|
NM_023036.6(DNAI2):c.*272C>G
|
rs886053380
|
|
NM_023036.6(DNAI2):c.*339C>T
|
rs2053734425
|
|
NM_023036.6(DNAI2):c.-21C>A
|
rs753355539
|
|
NM_023036.6(DNAI2):c.-4C>T
|
rs757989808
|
|
NM_023036.6(DNAI2):c.1005G>C (p.Val335=)
|
|
|
NM_023036.6(DNAI2):c.1005G>T (p.Val335=)
|
rs1598329997
|
|
NM_023036.6(DNAI2):c.1008G>T (p.Gly336=)
|
|
|
NM_023036.6(DNAI2):c.1011C>A (p.Thr337=)
|
|
|
NM_023036.6(DNAI2):c.1026C>G (p.Val342=)
|
rs2144075616
|
|
NM_023036.6(DNAI2):c.1028T>G (p.Ile343Ser)
|
|
|
NM_023036.6(DNAI2):c.1039C>T (p.Arg347Cys)
|
|
|
NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala)
|
|
|
NM_023036.6(DNAI2):c.1040G>C (p.Arg347Pro)
|
rs138489039
|
|
NM_023036.6(DNAI2):c.1045_1057del (p.Ala349fs)
|
|
|
NM_023036.6(DNAI2):c.1047C>T (p.Ala349=)
|
|
|
NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met)
|
|
|
NM_023036.6(DNAI2):c.1069G>A (p.Val357Met)
|
|
|
NM_023036.6(DNAI2):c.1071G>C (p.Val357=)
|
rs2053119347
|
|
NM_023036.6(DNAI2):c.1074C>T (p.Cys358=)
|
rs374687041
|
|
NM_023036.6(DNAI2):c.1077C>T (p.Thr359=)
|
|
|
NM_023036.6(DNAI2):c.1095C>G (p.Gly365=)
|
|
|
NM_023036.6(DNAI2):c.1096C>G (p.Pro366Ala)
|
|
|
NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys)
|
|
|
NM_023036.6(DNAI2):c.1113G>A (p.Gln371=)
|
|
|
NM_023036.6(DNAI2):c.111G>A (p.Leu37=)
|
rs374070900
|
|
NM_023036.6(DNAI2):c.1122C>T (p.Pro374=)
|
|
|
NM_023036.6(DNAI2):c.1122del (p.Phe375fs)
|
|
|
NM_023036.6(DNAI2):c.1125C>T (p.Phe375=)
|
rs2144076662
|
|
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.1132A>T (p.Lys378Ter)
|
rs1598330492
|
|
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=)
|
|
|
NM_023036.6(DNAI2):c.1137C>T (p.Asn379=)
|
|
|
NM_023036.6(DNAI2):c.1140C>T (p.Phe380=)
|
rs868645915
|
|
NM_023036.6(DNAI2):c.1141C>T (p.Leu381=)
|
|
|
NM_023036.6(DNAI2):c.1146G>C (p.Thr382=)
|
|
|
NM_023036.6(DNAI2):c.1147G>C (p.Val383Leu)
|
|
|
NM_023036.6(DNAI2):c.114C>G (p.Ala38=)
|
rs763489979
|
|
NM_023036.6(DNAI2):c.114C>T (p.Ala38=)
|
|
|
NM_023036.6(DNAI2):c.1152C>T (p.Gly384=)
|
|
|
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn)
|
rs567531807
|
|
NM_023036.6(DNAI2):c.1155C>T (p.Asp385=)
|
|
|
NM_023036.6(DNAI2):c.1161A>G (p.Thr387=)
|
|
|
NM_023036.6(DNAI2):c.1163C>A (p.Ala388Asp)
|
|
|
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly)
|
rs375896715
|
|
NM_023036.6(DNAI2):c.1167C>A (p.Arg389=)
|
rs1463518851
|
|
NM_023036.6(DNAI2):c.1173G>A (p.Trp391Ter)
|
|
|
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys)
|
rs1204464128
|
|
NM_023036.6(DNAI2):c.1182C>T (p.Asp394=)
|
|
|
NM_023036.6(DNAI2):c.1186C>A (p.Arg396=)
|
rs758643189
|
|
NM_023036.6(DNAI2):c.1186_1193del (p.Arg396fs)
|
|
|
NM_023036.6(DNAI2):c.1193C>T (p.Ser398Leu)
|
|
|
NM_023036.6(DNAI2):c.1199T>A (p.Ile400Asn)
|
|
|
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg)
|
rs1060502200
|
|
NM_023036.6(DNAI2):c.1200C>T (p.Ile400=)
|
rs2144077545
|
|
NM_023036.6(DNAI2):c.1209C>A (p.Thr403=)
|
rs2053132959
|
|
NM_023036.6(DNAI2):c.1209C>T (p.Thr403=)
|
|
|
NM_023036.6(DNAI2):c.120G>A (p.Gln40=)
|
|
|
NM_023036.6(DNAI2):c.120G>T (p.Gln40His)
|
rs1274866190
|
|
NM_023036.6(DNAI2):c.1211+10G>A
|
|
|
NM_023036.6(DNAI2):c.1211+17G>T
|
|
|
NM_023036.6(DNAI2):c.1211+2_1211+5del
|
rs2144077639
|
|
NM_023036.6(DNAI2):c.1211+7G>A
|
|
|
NM_023036.6(DNAI2):c.1211+7G>C
|
|
|
NM_023036.6(DNAI2):c.1211+9C>G
|
|
|
NM_023036.6(DNAI2):c.1212-17T>C
|
rs2144104801
|
|
NM_023036.6(DNAI2):c.1212-19T>A
|
|
|
NM_023036.6(DNAI2):c.1212-20_1212-19del
|
|
|
NM_023036.6(DNAI2):c.1212-23_1212-9del
|
|
|
NM_023036.6(DNAI2):c.1212-2A>C
|
|
|
NM_023036.6(DNAI2):c.1212-7C>T
|
rs1598339876
|
|
NM_023036.6(DNAI2):c.1212-9C>T
|
rs2144104892
|
|
NM_023036.6(DNAI2):c.1213T>A (p.Tyr405Asn)
|
|
|
NM_023036.6(DNAI2):c.1227C>T (p.Tyr409=)
|
|
|
NM_023036.6(DNAI2):c.1236T>C (p.Asp412=)
|
|
|
NM_023036.6(DNAI2):c.1239T>C (p.Ala413=)
|
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
NM_023036.6(DNAI2):c.1244G>A (p.Trp415Ter)
|
rs2053367000
|
|
NM_023036.6(DNAI2):c.1245G>A (p.Trp415Ter)
|
|
|
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=)
|
rs886053378
|
|
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met)
|
rs564337753
|
|
NM_023036.6(DNAI2):c.1259C>T (p.Pro420Leu)
|
|
|
NM_023036.6(DNAI2):c.1260G>T (p.Pro420=)
|
rs200043910
|
|
NM_023036.6(DNAI2):c.1260_1293del (p.Thr421fs)
|
rs2144105381
|
|
NM_023036.6(DNAI2):c.1263C>A (p.Thr421=)
|
rs771686170
|
|
NM_023036.6(DNAI2):c.1263C>G (p.Thr421=)
|
rs771686170
|
|
NM_023036.6(DNAI2):c.1263C>T (p.Thr421=)
|
|
|
NM_023036.6(DNAI2):c.126G>A (p.Val42=)
|
rs2143874984
|
|
NM_023036.6(DNAI2):c.1275C>A (p.Thr425=)
|
rs1598340123
|
|
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=)
|
rs372940037
|
|
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)
|
|
|
NM_023036.6(DNAI2):c.1293C>A (p.Thr431=)
|
rs2144105751
|
|
NM_023036.6(DNAI2):c.1299T>C (p.Asp433=)
|
rs2144105794
|
|
NM_023036.6(DNAI2):c.12G>T (p.Val4=)
|
|
|
NM_023036.6(DNAI2):c.1309T>A (p.Phe437Ile)
|
|
|
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu)
|
|
|
NM_023036.6(DNAI2):c.130C>T (p.Arg44Trp)
|
|
|
NM_023036.6(DNAI2):c.1317C>T (p.Phe439=)
|
rs199524166
|
|
NM_023036.6(DNAI2):c.1323G>A (p.Gln441=)
|
|
|
NM_023036.6(DNAI2):c.1326C>A (p.Cys442Ter)
|
|
|
NM_023036.6(DNAI2):c.132del (p.Asn45fs)
|
|
|
NM_023036.6(DNAI2):c.1338C>G (p.Leu446=)
|
rs1246377044
|
|
NM_023036.6(DNAI2):c.1338C>T (p.Leu446=)
|
|
|
NM_023036.6(DNAI2):c.1347+10A>G
|
|
|
NM_023036.6(DNAI2):c.1347+12G>A
|
|
|
NM_023036.6(DNAI2):c.1347+13T>A
|
|
|
NM_023036.6(DNAI2):c.1347+14C>A
|
|
|
NM_023036.6(DNAI2):c.1347+18C>T
|
|
|
NM_023036.6(DNAI2):c.1347+19C>T
|
|
|
NM_023036.6(DNAI2):c.1347+6_1347+7delinsTT
|
rs2144106208
|
|
NM_023036.6(DNAI2):c.1347+7C>G
|
rs2290955
|
|
NM_023036.6(DNAI2):c.1347+8G>A
|
rs763011642
|
|
NM_023036.6(DNAI2):c.1347+8G>C
|
rs763011642
|
|
NM_023036.6(DNAI2):c.1348-11C>G
|
|
|
NM_023036.6(DNAI2):c.1348-14G>A
|
|
|
NM_023036.6(DNAI2):c.1348-14G>T
|
|
|
NM_023036.6(DNAI2):c.1348-15C>G
|
rs755825865
|
|
NM_023036.6(DNAI2):c.1348-15C>T
|
|
|
NM_023036.6(DNAI2):c.1348-16C>T
|
|
|
NM_023036.6(DNAI2):c.1348-18G>T
|
|
|
NM_023036.6(DNAI2):c.1348-1G>T
|
rs745755917
|
|
NM_023036.6(DNAI2):c.1348-3T>C
|
|
|
NM_023036.6(DNAI2):c.1348-4A>G
|
|
|
NM_023036.6(DNAI2):c.1348-6C>T
|
rs2144112203
|
|
NM_023036.6(DNAI2):c.1350G>T (p.Val450=)
|
rs2144112278
|
|
NM_023036.6(DNAI2):c.1357del (p.Glu453fs)
|
rs2144112404
|
|
NM_023036.6(DNAI2):c.1357dup (p.Glu453fs)
|
rs1555614910
|
|
NM_023036.6(DNAI2):c.1360del (p.Ala454fs)
|
|
|
NM_023036.6(DNAI2):c.1362C>T (p.Ala454=)
|
rs2144112441
|
|
NM_023036.6(DNAI2):c.1365C>T (p.Leu455=)
|
rs2144112493
|
|
NM_023036.6(DNAI2):c.1368C>A (p.Phe456Leu)
|
|
|
NM_023036.6(DNAI2):c.1375del (p.Arg459fs)
|
rs2144112583
|
|
NM_023036.6(DNAI2):c.1376G>A (p.Arg459Gln)
|
|
|
NM_023036.6(DNAI2):c.1389T>C (p.Asn463=)
|
rs1598342483
|
|
NM_023036.6(DNAI2):c.1398C>T (p.Leu466=)
|
|
|
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met)
|
rs371989598
|
|
NM_023036.6(DNAI2):c.1402G>A (p.Ala468Thr)
|
|
|
NM_023036.6(DNAI2):c.1407C>A (p.Cys469Ter)
|
rs143723454
|
|
NM_023036.6(DNAI2):c.1416G>A (p.Gln472=)
|
|
|
NM_023036.6(DNAI2):c.1419G>A (p.Leu473=)
|
|
|
NM_023036.6(DNAI2):c.1422G>A (p.Gly474=)
|
|
|
NM_023036.6(DNAI2):c.1422del (p.Thr475fs)
|
rs1240172375
|
|
NM_023036.6(DNAI2):c.1428C>G (p.Thr476=)
|
|
|
NM_023036.6(DNAI2):c.1428del (p.Thr477fs)
|
rs2144113081
|
|
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs)
|
rs1567876609
|
|
NM_023036.6(DNAI2):c.1433del (p.Leu478fs)
|
|
|
NM_023036.6(DNAI2):c.1437G>A (p.Leu479=)
|
rs1356113280
|
|
NM_023036.6(DNAI2):c.1440G>A (p.Glu480=)
|
|
|
NM_023036.6(DNAI2):c.1441del (p.Val481fs)
|
|
|
NM_023036.6(DNAI2):c.1446G>A (p.Ser482=)
|
rs368217836
|
|
NM_023036.6(DNAI2):c.1448del (p.Pro483fs)
|
|
|
NM_023036.6(DNAI2):c.144C>T (p.Asp48=)
|
rs755741675
|
|
NM_023036.6(DNAI2):c.1452G>C (p.Gly484=)
|
rs1759061828
|
|
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=)
|
rs901923607
|
|
NM_023036.6(DNAI2):c.1458T>C (p.Ser486=)
|
|
|
NM_023036.6(DNAI2):c.1459_1460delinsCATT (p.Thr487fs)
|
rs1598342751
|
|
NM_023036.6(DNAI2):c.1461C>T (p.Thr487=)
|
|
|
NM_023036.6(DNAI2):c.1473T>C (p.Asn491=)
|
|
|
NM_023036.6(DNAI2):c.147G>A (p.Thr49=)
|
rs369017940
|
|
NM_023036.6(DNAI2):c.147G>C (p.Thr49=)
|
rs369017940
|
|
NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr)
|
rs776297555
|
|
NM_023036.6(DNAI2):c.1491T>C (p.Ser497=)
|
rs2144113722
|
|
NM_023036.6(DNAI2):c.1494+10G>A
|
|
|
NM_023036.6(DNAI2):c.1494+12G>C
|
|
|
NM_023036.6(DNAI2):c.1494+18G>A
|
|
|
NM_023036.6(DNAI2):c.1494+1G>A
|
rs397515565
|
|
NM_023036.6(DNAI2):c.1494+1G>T
|
rs397515565
|
|
NM_023036.6(DNAI2):c.1494+20G>A
|
|
|
NM_023036.6(DNAI2):c.1494+7A>G
|
rs2144113793
|
|
NM_023036.6(DNAI2):c.1495-10G>C
|
rs762668832
|
|
NM_023036.6(DNAI2):c.1495-12C>G
|
|
|
NM_023036.6(DNAI2):c.1495-12C>T
|
|
|
NM_023036.6(DNAI2):c.1495-13C>G
|
|
|
NM_023036.6(DNAI2):c.1495-14C>G
|
|
|
NM_023036.6(DNAI2):c.1495-14C>T
|
|
|
NM_023036.6(DNAI2):c.1495-2A>T
|
|
|
NM_023036.6(DNAI2):c.1495-2_1495-1delinsTT
|
|
|
NM_023036.6(DNAI2):c.1495-3C>T
|
rs555938890
|
|
NM_023036.6(DNAI2):c.1495-4C>T
|
|
|
NM_023036.6(DNAI2):c.1504C>T (p.Arg502Cys)
|
|
|
NM_023036.6(DNAI2):c.1506T>C (p.Arg502=)
|
rs1060504506
|
|
NM_023036.6(DNAI2):c.1509G>A (p.Glu503=)
|
|
|
NM_023036.6(DNAI2):c.1512C>G (p.Thr504=)
|
|
|
NM_023036.6(DNAI2):c.1512C>T (p.Thr504=)
|
rs1273766803
|
|
NM_023036.6(DNAI2):c.1513del (p.Arg505fs)
|
|
|
NM_023036.6(DNAI2):c.1515G>A (p.Arg505=)
|
|
|
NM_023036.6(DNAI2):c.1516C>T (p.Arg506Ter)
|
rs141581673
|
|
NM_023036.6(DNAI2):c.1527C>A (p.Ile509=)
|
rs1395585835
|
|
NM_023036.6(DNAI2):c.1544G>A (p.Arg515Gln)
|
|
|
NM_023036.6(DNAI2):c.154C>T (p.Gln52Ter)
|
|
|
NM_023036.6(DNAI2):c.1552C>A (p.Arg518=)
|
|
|
NM_023036.6(DNAI2):c.1553G>A (p.Arg518Gln)
|
|
|
NM_023036.6(DNAI2):c.1555_1561del (p.Leu519fs)
|
|
|
NM_023036.6(DNAI2):c.1557G>A (p.Leu519=)
|
rs1223294262
|
|
NM_023036.6(DNAI2):c.1557G>T (p.Leu519=)
|
|
|
NM_023036.6(DNAI2):c.1567G>T (p.Gly523Cys)
|
rs2053558785
|
|
NM_023036.6(DNAI2):c.1571A>G (p.Lys524Arg)
|
rs1211582211
|
|
NM_023036.6(DNAI2):c.1599C>A (p.Thr533=)
|
|
|
NM_023036.6(DNAI2):c.1599C>G (p.Thr533=)
|
|
|
NM_023036.6(DNAI2):c.15C>A (p.Tyr5Ter)
|
|
|
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)
|
rs538543314
|
|
NM_023036.6(DNAI2):c.1600del (p.Asp534fs)
|
|
|
NM_023036.6(DNAI2):c.1611G>T (p.Leu537=)
|
|
|
NM_023036.6(DNAI2):c.1626G>A (p.Glu542=)
|
rs1357252118
|
|
NM_023036.6(DNAI2):c.1628C>T (p.Ala543Val)
|
|
|
NM_023036.6(DNAI2):c.1631_1632insAGCG (p.Val545fs)
|
|
|
NM_023036.6(DNAI2):c.1637del (p.Ser546fs)
|
|
|
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1644C>G (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1645G>A (p.Glu549Lys)
|
|
|
NM_023036.6(DNAI2):c.1645GAG[2] (p.Glu551del)
|
|
|
NM_023036.6(DNAI2):c.1653G>A (p.Glu551=)
|
|
|
NM_023036.6(DNAI2):c.165C>T (p.Ile55=)
|
|
|
NM_023036.6(DNAI2):c.1660G>C (p.Asp554His)
|
rs117932646
|
|
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)
|
rs146727740
|
|
NM_023036.6(DNAI2):c.1665C>A (p.Ile555=)
|
|
|
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs)
|
rs1598348312
|
|
NM_023036.6(DNAI2):c.1674A>G (p.Ala558=)
|
|
|
NM_023036.6(DNAI2):c.1683del (p.Lys562fs)
|
rs2053566684
|
|
NM_023036.6(DNAI2):c.1700C>A (p.Ala567Asp)
|
|
|
NM_023036.6(DNAI2):c.170T>C (p.Met57Thr)
|
|
|
NM_023036.6(DNAI2):c.1713G>C (p.Thr571=)
|
rs377499410
|
|
NM_023036.6(DNAI2):c.1716A>C (p.Pro572=)
|
|
|
NM_023036.6(DNAI2):c.1722+10T>C
|
|
|
NM_023036.6(DNAI2):c.1722+14C>T
|
|
|
NM_023036.6(DNAI2):c.1722+15A>G
|
|
|
NM_023036.6(DNAI2):c.1722+15_1722+16del
|
|
|
NM_023036.6(DNAI2):c.1722+1G>A
|
rs2053569243
|
|
NM_023036.6(DNAI2):c.1722+8C>A
|
rs1385576590
|
|
NM_023036.6(DNAI2):c.1723-17G>A
|
|
|
NM_023036.6(DNAI2):c.1723-19G>A
|
|
|
NM_023036.6(DNAI2):c.1723-20T>C
|
|
|
NM_023036.6(DNAI2):c.1723-4G>A
|
rs2144147476
|
|
NM_023036.6(DNAI2):c.1723-5T>C
|
|
|
NM_023036.6(DNAI2):c.1723-9C>G
|
|
|
NM_023036.6(DNAI2):c.1737A>G (p.Pro579=)
|
|
|
NM_023036.6(DNAI2):c.1737AGA[2] (p.Glu581del)
|
rs886053379
|
|
NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu)
|
|
|
NM_023036.6(DNAI2):c.1743A>C (p.Glu581Asp)
|
|
|
NM_023036.6(DNAI2):c.1749G>A (p.Gln583=)
|
|
|
NM_023036.6(DNAI2):c.1761G>A (p.Glu587=)
|
rs1598353611
|
|
NM_023036.6(DNAI2):c.1762G>A (p.Gly588Arg)
|
|
|
NM_023036.6(DNAI2):c.1763del (p.Gly588fs)
|
rs2053693881
|
|
NM_023036.6(DNAI2):c.1773A>G (p.Ala591=)
|
rs2144147960
|
|
NM_023036.6(DNAI2):c.1782A>G (p.Glu594=)
|
rs762217686
|
|
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg)
|
rs1486049035
|
|
NM_023036.6(DNAI2):c.1788G>C (p.Gly596=)
|
rs926548169
|
|
NM_023036.6(DNAI2):c.1794A>G (p.Glu598=)
|
rs2144148291
|
|
NM_023036.6(DNAI2):c.1795G>T (p.Glu599Ter)
|
rs1374403931
|
|
NM_023036.6(DNAI2):c.1806A>G (p.Glu602=)
|
rs1375459041
|
|
NM_023036.6(DNAI2):c.180C>T (p.His60=)
|
|
|
NM_023036.6(DNAI2):c.1818G>A (p.Ter606=)
|
|
|
NM_023036.6(DNAI2):c.183+12C>T
|
|
|
NM_023036.6(DNAI2):c.183+14C>T
|
|
|
NM_023036.6(DNAI2):c.183+15C>T
|
|
|
NM_023036.6(DNAI2):c.183+20G>T
|
|
|
NM_023036.6(DNAI2):c.184-13G>A
|
|
|
NM_023036.6(DNAI2):c.184-15C>A
|
rs774597549
|
|
NM_023036.6(DNAI2):c.184-15C>T
|
|
|
NM_023036.6(DNAI2):c.184-1G>A
|
rs1598278059
|
|
NM_023036.6(DNAI2):c.184-20T>G
|
|
|
NM_023036.6(DNAI2):c.184-8C>T
|
rs2143902452
|
|
NM_023036.6(DNAI2):c.184-9T>C
|
rs2143902431
|
|
NM_023036.6(DNAI2):c.18G>A (p.Val6=)
|
rs1266514021
|
|
NM_023036.6(DNAI2):c.192A>T (p.Ser64=)
|
|
|
NM_023036.6(DNAI2):c.196C>A (p.Arg66=)
|
rs371226659
|
|
NM_023036.6(DNAI2):c.197G>A (p.Arg66Gln)
|
|
|
NM_023036.6(DNAI2):c.198G>A (p.Arg66=)
|
rs763731811
|
|
NM_023036.6(DNAI2):c.204G>C (p.Glu68Asp)
|
rs1400041025
|
|
NM_023036.6(DNAI2):c.213C>T (p.Thr71=)
|
|
|
NM_023036.6(DNAI2):c.215G>T (p.Arg72Leu)
|
|
|
NM_023036.6(DNAI2):c.21C>G (p.Tyr7Ter)
|
rs764381446
|
|
NM_023036.6(DNAI2):c.225C>G (p.Asn75Lys)
|
rs2143902905
|
|
NM_023036.6(DNAI2):c.225C>T (p.Asn75=)
|
|
|
NM_023036.6(DNAI2):c.228T>C (p.His76=)
|
|
|
NM_023036.6(DNAI2):c.231dup (p.Glu78fs)
|
|
|
NM_023036.6(DNAI2):c.246_250del (p.Lys83fs)
|
rs2143903171
|
|
NM_023036.6(DNAI2):c.250del (p.Asp84fs)
|
rs769251936
|
|
NM_023036.6(DNAI2):c.253G>A (p.Val85Met)
|
|
|
NM_023036.6(DNAI2):c.261_262dup (p.Leu88fs)
|
|
|
NM_023036.6(DNAI2):c.262del (p.Leu88fs)
|
|
|
NM_023036.6(DNAI2):c.267G>A (p.Glu89=)
|
rs1469550104
|
|
NM_023036.6(DNAI2):c.279C>T (p.Thr93=)
|
rs1033783344
|
|
NM_023036.6(DNAI2):c.27G>A (p.Lys9=)
|
rs2143873748
|
|
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr)
|
rs200125805
|
|
NM_023036.6(DNAI2):c.297A>G (p.Lys99=)
|
|
|
NM_023036.6(DNAI2):c.300G>A (p.Val100=)
|
|
|
NM_023036.6(DNAI2):c.300G>C (p.Val100=)
|
|
|
NM_023036.6(DNAI2):c.303G>A (p.Glu101=)
|
rs199535813
|
|
NM_023036.6(DNAI2):c.30G>A (p.Lys10=)
|
|
|
NM_023036.6(DNAI2):c.325_326del (p.Ala109fs)
|
|
|
NM_023036.6(DNAI2):c.32G>A (p.Arg11His)
|
|
|
NM_023036.6(DNAI2):c.335A>G (p.Gln112Arg)
|
rs2051638403
|
|
NM_023036.6(DNAI2):c.336G>A (p.Gln112=)
|
rs751496866
|
|
NM_023036.6(DNAI2):c.336G>T (p.Gln112His)
|
|
|
NM_023036.6(DNAI2):c.337C>T (p.Leu113Phe)
|
|
|
NM_023036.6(DNAI2):c.339C>G (p.Leu113=)
|
|
|
NM_023036.6(DNAI2):c.339C>T (p.Leu113=)
|
rs957243389
|
|
NM_023036.6(DNAI2):c.33C>A (p.Arg11=)
|
|
|
NM_023036.6(DNAI2):c.33C>T (p.Arg11=)
|
rs2143873820
|
|
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser)
|
rs764225804
|
|
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val)
|
rs1271406619
|
|
NM_023036.6(DNAI2):c.341_344del (p.Gly114fs)
|
rs2143904159
|
|
NM_023036.6(DNAI2):c.342C>T (p.Gly114=)
|
rs757494255
|
|
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr)
|
|
|
NM_023036.6(DNAI2):c.345+18C>T
|
|
|
NM_023036.6(DNAI2):c.345+19C>A
|
|
|
NM_023036.6(DNAI2):c.345+20C>T
|
|
|
NM_023036.6(DNAI2):c.345+2T>C
|
|
|
NM_023036.6(DNAI2):c.346-10T>C
|
rs758678063
|
|
NM_023036.6(DNAI2):c.346-13G>A
|
|
|
NM_023036.6(DNAI2):c.346-3T>G
|
rs397515358
|
|
NM_023036.6(DNAI2):c.346-5C>T
|
rs751933779
|
|
NM_023036.6(DNAI2):c.346-8C>T
|
rs1224415599
|
|
NM_023036.6(DNAI2):c.346-9C>G
|
|
|
NM_023036.6(DNAI2):c.346-9C>T
|
rs780216155
|
|
NM_023036.6(DNAI2):c.354G>A (p.Glu118=)
|
|
|
NM_023036.6(DNAI2):c.357C>T (p.His119=)
|
|
|
NM_023036.6(DNAI2):c.369G>A (p.Gln123=)
|
|
|
NM_023036.6(DNAI2):c.36C>T (p.Ser12=)
|
|
|
NM_023036.6(DNAI2):c.371A>C (p.Asn124Thr)
|
|
|
NM_023036.6(DNAI2):c.39G>A (p.Glu13=)
|
rs533814143
|
|
NM_023036.6(DNAI2):c.404A>G (p.Asn135Ser)
|
|
|
NM_023036.6(DNAI2):c.405T>C (p.Asn135=)
|
|
|
NM_023036.6(DNAI2):c.408C>A (p.Asp136Glu)
|
rs770624431
|
|
NM_023036.6(DNAI2):c.410A>C (p.Glu137Ala)
|
|
|
NM_023036.6(DNAI2):c.411G>A (p.Glu137=)
|
rs1305242771
|
|
NM_023036.6(DNAI2):c.412G>T (p.Glu138Ter)
|
|
|
NM_023036.6(DNAI2):c.42C>T (p.Phe14=)
|
rs1305282590
|
|
NM_023036.6(DNAI2):c.433G>T (p.Glu145Ter)
|
rs2051792816
|
|
NM_023036.6(DNAI2):c.444A>G (p.Ser148=)
|
rs2143921761
|
|
NM_023036.6(DNAI2):c.444A>T (p.Ser148=)
|
|
|
NM_023036.6(DNAI2):c.447T>C (p.Ala149=)
|
|
|
NM_023036.6(DNAI2):c.459T>C (p.Asn153=)
|
|
|
NM_023036.6(DNAI2):c.467+14C>G
|
|
|
NM_023036.6(DNAI2):c.467+17G>T
|
|
|
NM_023036.6(DNAI2):c.467+6G>A
|
rs1486894999
|
|
NM_023036.6(DNAI2):c.467+7C>A
|
|
|
NM_023036.6(DNAI2):c.467+7C>T
|
rs1421393242
|
|
NM_023036.6(DNAI2):c.467+9A>G
|
rs2143922010
|
|
NM_023036.6(DNAI2):c.468-12T>C
|
|
|
NM_023036.6(DNAI2):c.468-2A>G
|
rs2143940594
|
|
NM_023036.6(DNAI2):c.468-5T>C
|
|
|
NM_023036.6(DNAI2):c.468-7C>T
|
rs756523421
|
|
NM_023036.6(DNAI2):c.474C>A (p.Pro158=)
|
|
|
NM_023036.6(DNAI2):c.474C>T (p.Pro158=)
|
|
|
NM_023036.6(DNAI2):c.475del (p.Gln159fs)
|
|
|
NM_023036.6(DNAI2):c.477G>A (p.Gln159=)
|
|
|
NM_023036.6(DNAI2):c.480A>G (p.Glu160=)
|
rs2143940713
|
|
NM_023036.6(DNAI2):c.483C>T (p.Ile161=)
|
rs1598289369
|
|
NM_023036.6(DNAI2):c.486G>A (p.Lys162=)
|
|
|
NM_023036.6(DNAI2):c.489G>A (p.Arg163=)
|
|
|
NM_023036.6(DNAI2):c.495C>T (p.Ala165=)
|
rs2143940825
|
|
NM_023036.6(DNAI2):c.502C>T (p.Leu168Phe)
|
|
|
NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro)
|
|
|
NM_023036.6(DNAI2):c.517G>A (p.Asp173Asn)
|
|
|
NM_023036.6(DNAI2):c.51G>A (p.Gln17=)
|
rs1029295506
|
|
NM_023036.6(DNAI2):c.522C>T (p.Gly174=)
|
rs557724360
|
|
NM_023036.6(DNAI2):c.523A>C (p.Asn175His)
|
|
|
NM_023036.6(DNAI2):c.525C>T (p.Asn175=)
|
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|
NM_023036.6(DNAI2):c.527_529delinsTAGTGAGACTTCATTTCTACACTTTTTTTTTAATTACCC (p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln)
|
rs2143941130
|
|
NM_023036.6(DNAI2):c.528G>A (p.Arg176=)
|
rs2143941147
|
|
NM_023036.6(DNAI2):c.543A>T (p.Ala181=)
|
rs2143941244
|
|
NM_023036.6(DNAI2):c.546C>G (p.Tyr182Ter)
|
|
|
NM_023036.6(DNAI2):c.562C>T (p.Gln188Ter)
|
|
|
NM_023036.6(DNAI2):c.576G>A (p.Val192=)
|
|
|
NM_023036.6(DNAI2):c.579C>T (p.Gly193=)
|
|
|
NM_023036.6(DNAI2):c.585C>T (p.Ser195=)
|
rs2143941526
|
|
NM_023036.6(DNAI2):c.587G>A (p.Ser196Asn)
|
rs1567850585
|
|
NM_023036.6(DNAI2):c.588C>T (p.Ser196=)
|
rs1359353945
|
|
NM_023036.6(DNAI2):c.594A>G (p.Ser198=)
|
|
|
NM_023036.6(DNAI2):c.606C>T (p.Asp202=)
|
|
|
NM_023036.6(DNAI2):c.609G>A (p.Leu203=)
|
rs2143941710
|
|
NM_023036.6(DNAI2):c.610+10A>G
|
rs2143941784
|
|
NM_023036.6(DNAI2):c.610+1G>T
|
|
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NM_023036.6(DNAI2):c.610+20T>C
|
|
|
NM_023036.6(DNAI2):c.610+9C>G
|
|
|
NM_023036.6(DNAI2):c.611-13T>C
|
rs780969152
|
|
NM_023036.6(DNAI2):c.611-16T>A
|
|
|
NM_023036.6(DNAI2):c.611-17T>A
|
|
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NM_023036.6(DNAI2):c.611-19A>C
|
|
|
NM_023036.6(DNAI2):c.611-19A>T
|
|
|
NM_023036.6(DNAI2):c.611-3T>C
|
rs886053377
|
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NM_023036.6(DNAI2):c.611-4A>G
|
rs752506783
|
|
NM_023036.6(DNAI2):c.611-5T>G
|
|
|
NM_023036.6(DNAI2):c.611-6T>G
|
|
|
NM_023036.6(DNAI2):c.611-7T>C
|
|
|
NM_023036.6(DNAI2):c.611-7T>G
|
rs2143951498
|
|
NM_023036.6(DNAI2):c.614del (p.Asn205fs)
|
|
|
NM_023036.6(DNAI2):c.618CAA[1] (p.Asn207del)
|
|
|
NM_023036.6(DNAI2):c.618del (p.Asn207fs)
|
|
|
NM_023036.6(DNAI2):c.621C>T (p.Asn207=)
|
rs2052059556
|
|
NM_023036.6(DNAI2):c.631C>A (p.Leu211Ile)
|
|
|
NM_023036.6(DNAI2):c.638T>G (p.Leu213Arg)
|
rs1060502201
|
|
NM_023036.6(DNAI2):c.63G>A (p.Ser21=)
|
|
|
NM_023036.6(DNAI2):c.63G>C (p.Ser21=)
|
rs747888220
|
|
NM_023036.6(DNAI2):c.645A>G (p.Pro215=)
|
|
|
NM_023036.6(DNAI2):c.648G>A (p.Ser216=)
|
|
|
NM_023036.6(DNAI2):c.654A>T (p.Pro218=)
|
|
|
NM_023036.6(DNAI2):c.657C>G (p.Leu219=)
|
rs539461253
|
|
NM_023036.6(DNAI2):c.658G>A (p.Val220Met)
|
|
|
NM_023036.6(DNAI2):c.660G>T (p.Val220=)
|
|
|
NM_023036.6(DNAI2):c.663G>T (p.Thr221=)
|
|
|
NM_023036.6(DNAI2):c.669G>A (p.Glu223=)
|
rs1211030253
|
|
NM_023036.6(DNAI2):c.66C>T (p.Asp22=)
|
|
|
NM_023036.6(DNAI2):c.674del (p.Asn225fs)
|
rs1598293348
|
|
NM_023036.6(DNAI2):c.675C>T (p.Asn225=)
|
rs2052063737
|
|
NM_023036.6(DNAI2):c.680A>G (p.Lys227Arg)
|
|
|
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)
|
rs576683556
|
|
NM_023036.6(DNAI2):c.690C>T (p.His230=)
|
|
|
NM_023036.6(DNAI2):c.691G>A (p.Val231Ile)
|
|
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NM_023036.6(DNAI2):c.697C>T (p.Leu233=)
|
|
|
NM_023036.6(DNAI2):c.69C>T (p.Arg23=)
|
rs2143874354
|
|
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)
|
rs897911822
|
|
NM_023036.6(DNAI2):c.702T>C (p.Gly234=)
|
rs2143952522
|
|
NM_023036.6(DNAI2):c.704G>T (p.Gly235Val)
|
|
|
NM_023036.6(DNAI2):c.705C>T (p.Gly235=)
|
|
|
NM_023036.6(DNAI2):c.70C>G (p.Gln24Glu)
|
rs777662498
|
|
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp)
|
|
|
NM_023036.6(DNAI2):c.714T>C (p.Asn238=)
|
|
|
NM_023036.6(DNAI2):c.724+12C>A
|
|
|
NM_023036.6(DNAI2):c.724+158G>A
|
rs9905633
|
|
NM_023036.6(DNAI2):c.724+18C>T
|
|
|
NM_023036.6(DNAI2):c.724+20T>G
|
|
|
NM_023036.6(DNAI2):c.724+20TTTTTA[2]
|
|
|
NM_023036.6(DNAI2):c.724+20TTTTTA[4]
|
|
|
NM_023036.6(DNAI2):c.724+24del
|
rs771046755
|
|
NM_023036.6(DNAI2):c.724+24dup
|
|
|
NM_023036.6(DNAI2):c.725-13_725-11del
|
|
|
NM_023036.6(DNAI2):c.725-5A>T
|
|
|
NM_023036.6(DNAI2):c.725-6C>G
|
rs374155875
|
|
NM_023036.6(DNAI2):c.725-8C>T
|
rs2144026133
|
|
NM_023036.6(DNAI2):c.725-9C>T
|
|
|
NM_023036.6(DNAI2):c.732G>A (p.Trp244Ter)
|
rs2144026301
|
|
NM_023036.6(DNAI2):c.738C>A (p.Thr246=)
|
rs954506062
|
|
NM_023036.6(DNAI2):c.738C>T (p.Thr246=)
|
rs954506062
|
|
NM_023036.6(DNAI2):c.747C>A (p.Gly249=)
|
rs148488355
|
|
NM_023036.6(DNAI2):c.750C>T (p.Ser250=)
|
|
|
NM_023036.6(DNAI2):c.75C>T (p.Ala25=)
|
rs749172812
|
|
NM_023036.6(DNAI2):c.760G>A (p.Glu254Lys)
|
|
|
NM_023036.6(DNAI2):c.773T>C (p.Ile258Thr)
|
|
|
NM_023036.6(DNAI2):c.780C>T (p.Ser260=)
|
|
|
NM_023036.6(DNAI2):c.781A>G (p.Ser261Gly)
|
|
|
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly)
|
rs137852998
|
|
NM_023036.6(DNAI2):c.78G>A (p.Glu26=)
|
|
|
NM_023036.6(DNAI2):c.793C>T (p.Pro265Ser)
|
|
|
NM_023036.6(DNAI2):c.795T>C (p.Pro265=)
|
rs761552228
|
|
NM_023036.6(DNAI2):c.798G>A (p.Val266=)
|
rs1598313604
|
|
NM_023036.6(DNAI2):c.801T>C (p.Tyr267=)
|
|
|
NM_023036.6(DNAI2):c.804C>G (p.Gly268=)
|
rs2144027042
|
|
NM_023036.6(DNAI2):c.810C>A (p.Ile270=)
|
rs2052655463
|
|
NM_023036.6(DNAI2):c.810C>G (p.Ile270Met)
|
rs2052655463
|
|
NM_023036.6(DNAI2):c.814C>T (p.Leu272=)
|
rs1183280081
|
|
NM_023036.6(DNAI2):c.816G>A (p.Leu272=)
|
rs62065712
|
|
NM_023036.6(DNAI2):c.819G>A (p.Gln273=)
|
|
|
NM_023036.6(DNAI2):c.823A>T (p.Lys275Ter)
|
|
|
NM_023036.6(DNAI2):c.831C>T (p.Gly277=)
|
|
|
NM_023036.6(DNAI2):c.837G>A (p.Glu279=)
|
rs772574421
|
|
NM_023036.6(DNAI2):c.840C>T (p.Cys280=)
|
|
|
NM_023036.6(DNAI2):c.853A>G (p.Thr285Ala)
|
|
|
NM_023036.6(DNAI2):c.861G>A (p.Gly287=)
|
|
|
NM_023036.6(DNAI2):c.864+10A>T
|
|
|
NM_023036.6(DNAI2):c.864+14A>G
|
|
|
NM_023036.6(DNAI2):c.864+16A>C
|
|
|
NM_023036.6(DNAI2):c.864+17C>A
|
|
|
NM_023036.6(DNAI2):c.864+19C>G
|
|
|
NM_023036.6(DNAI2):c.864+19C>T
|
|
|
NM_023036.6(DNAI2):c.864+1G>T
|
rs1177965342
|
|
NM_023036.6(DNAI2):c.864+9C>T
|
|
|
NM_023036.6(DNAI2):c.865-10C>T
|
rs2052731313
|
|
NM_023036.6(DNAI2):c.865-15C>G
|
rs201457679
|
|
NM_023036.6(DNAI2):c.865-15C>T
|
rs201457679
|
|
NM_023036.6(DNAI2):c.865-17G>A
|
|
|
NM_023036.6(DNAI2):c.865-1G>C
|
rs776777011
|
|
NM_023036.6(DNAI2):c.865-5A>T
|
|
|
NM_023036.6(DNAI2):c.865-6_865-5inv
|
|
|
NM_023036.6(DNAI2):c.865-7C>A
|
|
|
NM_023036.6(DNAI2):c.875G>A (p.Trp292Ter)
|
|
|
NM_023036.6(DNAI2):c.876G>A (p.Trp292Ter)
|
rs1060502202
|
|
NM_023036.6(DNAI2):c.87dup (p.Asp30fs)
|
|
|
NM_023036.6(DNAI2):c.882C>A (p.Ile294=)
|
|
|
NM_023036.6(DNAI2):c.884G>A (p.Arg295Gln)
|
|
|
NM_023036.6(DNAI2):c.892A>C (p.Ser298Arg)
|
rs2144035001
|
|
NM_023036.6(DNAI2):c.894C>T (p.Ser298=)
|
|
|
NM_023036.6(DNAI2):c.895del (p.Glu299fs)
|
rs2144035068
|
|
NM_023036.6(DNAI2):c.900_905del (p.Thr301_Glu302del)
|
rs2144035143
|
|
NM_023036.6(DNAI2):c.903T>C (p.Thr301=)
|
rs2144035167
|
|
NM_023036.6(DNAI2):c.90C>T (p.Asp30=)
|
|
|
NM_023036.6(DNAI2):c.921C>T (p.Asp307=)
|
|
|
NM_023036.6(DNAI2):c.924C>A (p.Ile308=)
|
rs747748164
|
|
NM_023036.6(DNAI2):c.928A>T (p.Lys310Ter)
|
rs755714858
|
|
NM_023036.6(DNAI2):c.939G>A (p.Gln313=)
|
|
|
NM_023036.6(DNAI2):c.940T>C (p.Leu314=)
|
rs749072778
|
|
NM_023036.6(DNAI2):c.951C>T (p.Ala317=)
|
|
|
NM_023036.6(DNAI2):c.957G>A (p.Gly319=)
|
rs2144035485
|
|
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys)
|
|
|
NM_023036.6(DNAI2):c.965C>A (p.Ser322Tyr)
|
rs2052738856
|
|
NM_023036.6(DNAI2):c.966C>G (p.Ser322=)
|
rs765353102
|
|
NM_023036.6(DNAI2):c.966C>T (p.Ser322=)
|
|
|
NM_023036.6(DNAI2):c.969G>C (p.Leu323=)
|
rs1306977536
|
|
NM_023036.6(DNAI2):c.973T>A (p.Phe325Ile)
|
|
|
NM_023036.6(DNAI2):c.978A>G (p.Glu326=)
|
rs763193003
|
|
NM_023036.6(DNAI2):c.981T>C (p.Ser327=)
|
rs886038679
|
|
NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala)
|
rs2052739853
|
|
NM_023036.6(DNAI2):c.987+14dup
|
|
|
NM_023036.6(DNAI2):c.987+17G>T
|
|
|
NM_023036.6(DNAI2):c.987+1G>A
|
|
|
NM_023036.6(DNAI2):c.987+9C>G
|
rs2144035707
|
|
NM_023036.6(DNAI2):c.988-10C>T
|
rs2144075152
|
|
NM_023036.6(DNAI2):c.988-16G>A
|
|
|
NM_023036.6(DNAI2):c.9T>C (p.Ile3=)
|
rs2143873517
|
|