ClinVar Miner

List of variants in gene DNAI2 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 738
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HGVS dbSNP gnomAD frequency
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=)
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
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
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
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)
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

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