ClinVar Miner

List of variants in gene KANSL1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015443.4(KANSL1):c.2724+99G>C rs4597358 0.23538
NM_015443.4(KANSL1):c.2837+175C>T rs7350980 0.20860
NM_015443.4(KANSL1):c.2203+118A>C rs7221390 0.20843
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.16502
NM_015443.4(KANSL1):c.-89-202C>T rs2532270 0.14596
NM_015443.4(KANSL1):c.1289+179C>T rs2532271 0.14583
NM_015443.4(KANSL1):c.696C>T (p.Ser232=) rs1881194 0.14580
NM_015443.4(KANSL1):c.1432-80C>T rs17576200 0.14483
NM_015443.4(KANSL1):c.2541+174C>T rs12150542 0.14480
NM_015443.4(KANSL1):c.1653-54A>G rs62060798 0.14476
NM_015443.4(KANSL1):c.1533+112G>A rs77925835 0.14472
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14472
NM_015443.4(KANSL1):c.1653-289G>T rs17575850 0.14471
NM_015443.4(KANSL1):c.3090+165C>T rs55881134 0.14471
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=) rs17574604 0.14470
NM_015443.4(KANSL1):c.1653-247T>C rs17575822 0.14469
NM_015443.4(KANSL1):c.2392+155C>T rs41437445 0.14464
NM_015443.4(KANSL1):c.1290-324G>A rs80020809 0.14397
NM_015443.4(KANSL1):c.1432-142C>T rs62060852 0.14356
NM_015443.4(KANSL1):c.741A>G (p.Arg247=) rs1881193 0.12760
NM_015443.4(KANSL1):c.-89-23T>C rs2696662 0.12667
NM_015443.4(KANSL1):c.-90+225A>T rs11079733 0.12667
NM_015443.4(KANSL1):c.-90+130T>A rs2696633 0.12666
NM_015443.4(KANSL1):c.1534-340A>G rs75641221 0.12617
NM_015443.4(KANSL1):c.1653-153C>A rs62060799 0.12597
NM_015443.4(KANSL1):c.2542-176G>T rs17653162 0.12596
NM_015443.4(KANSL1):c.2021-147T>C rs10514897 0.12593
NM_015443.4(KANSL1):c.1533+176A>C rs111913701 0.12592
NM_015443.4(KANSL1):c.3091-119G>C rs17574425 0.12591
NM_015443.4(KANSL1):c.1533+252G>T rs77138434 0.12587
NM_015443.4(KANSL1):c.2392+81A>G rs62062136 0.12586
NM_015443.4(KANSL1):c.2838-104G>C rs1076222 0.12583
NM_015443.4(KANSL1):c.1533+82G>A rs17659953 0.12581
NM_015443.4(KANSL1):c.2667-283T>C rs62062321 0.12581
NM_015443.4(KANSL1):c.1652+281C>T rs17659731 0.12575
NM_015443.4(KANSL1):c.1533+135T>C rs111519055 0.12569
NM_015443.4(KANSL1):c.2667-62T>A rs77009866 0.12566
NM_015443.4(KANSL1):c.1290-260A>T rs17576695 0.12511
NM_015443.4(KANSL1):c.662C>T (p.Thr221Ile) rs17662853 0.11857
NM_015443.4(KANSL1):c.311A>C (p.Lys104Thr) rs17585974 0.11620
NM_015443.4(KANSL1):c.414T>G (p.Leu138=) rs17662889 0.11611
NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp) rs35643216 0.11593
NM_015443.4(KANSL1):c.1533+101G>C rs16940874 0.05961
NM_015443.4(KANSL1):c.1653-116A>G rs2301732 0.04679
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=) rs2277613 0.04041
NM_015443.4(KANSL1):c.-89-240G>A rs9911018 0.03130
NM_015443.4(KANSL1):c.2667-204G>T rs73317042 0.02845
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.1533+161G>A rs117475340 0.00944
NM_015443.4(KANSL1):c.1849-283A>G rs147080346 0.00822
NM_015443.4(KANSL1):c.1653-177A>G rs111288789 0.00675
NM_015443.4(KANSL1):c.1289+18A>G rs150225895 0.00275
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00191
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00169
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00162
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00146
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00140
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00137
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667 0.00108
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=) rs146848167 0.00091
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile) rs117412152 0.00087
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=) rs149756887 0.00087
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00067
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00051
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00051
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00041
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879 0.00037
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_015443.4(KANSL1):c.1653-11C>T rs201471275 0.00035
NM_015443.4(KANSL1):c.-90+397G>T rs566057890 0.00034
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936 0.00032
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 0.00032
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile) rs144337302 0.00029
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045 0.00022
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376 0.00021
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) rs200903841 0.00016
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199 0.00014
NM_015443.4(KANSL1):c.498A>C (p.Thr166=) rs141491325 0.00014
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala) rs199948200 0.00011
NM_015443.4(KANSL1):c.849G>A (p.Arg283=) rs754362361 0.00011
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
NM_015443.4(KANSL1):c.862C>T (p.Leu288=) rs144805634 0.00010
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) rs139843442 0.00010
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467 0.00009
NM_015443.4(KANSL1):c.30C>T (p.Asp10=) rs200649587 0.00009
NM_015443.4(KANSL1):c.1128T>A (p.Ile376=) rs148054472 0.00008
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly) rs751709708 0.00008
NM_015443.4(KANSL1):c.2837+14C>T rs770089639 0.00008
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=) rs370904425 0.00008
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497 0.00007
NM_015443.4(KANSL1):c.12G>A (p.Met4Ile) rs146472353 0.00007
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050 0.00007
NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp) rs372601814 0.00007
NM_015443.4(KANSL1):c.-12T>C rs560212050 0.00006
NM_015443.4(KANSL1):c.-35C>T rs200079769 0.00006
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His) rs764291274 0.00006
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His) rs760727599 0.00006
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu) rs527948436 0.00006
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109 0.00006
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile) rs202150313 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=) rs139663254 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=) rs371484505 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys) rs781582912 0.00006
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp) rs375225315 0.00006
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly) rs141969887 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys) rs757224600 0.00005
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys) rs772236084 0.00005
NM_015443.4(KANSL1):c.896G>A (p.Arg299His) rs201785695 0.00005
NM_015443.4(KANSL1):c.*3G>A rs372125138 0.00004
NM_015443.4(KANSL1):c.-47C>T rs765669550 0.00004
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=) rs199820469 0.00004
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr) rs376632173 0.00004
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_015443.4(KANSL1):c.2204-11C>A rs373489007 0.00004
NM_015443.4(KANSL1):c.2298A>G (p.Pro766=) rs367624499 0.00004
NM_015443.4(KANSL1):c.2322A>G (p.Pro774=) rs765777662 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe) rs773238363 0.00004
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) rs781056926 0.00004
NM_015443.4(KANSL1):c.3138C>G (p.Pro1046=) rs776183957 0.00004
NM_015443.4(KANSL1):c.*2C>T rs774194245 0.00003
NM_015443.4(KANSL1):c.-34G>A rs369409842 0.00003
NM_015443.4(KANSL1):c.-90+394C>G rs1057523908 0.00003
NM_015443.4(KANSL1):c.-90+404G>C rs796052591 0.00003
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467 0.00003
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 0.00003
NM_015443.4(KANSL1):c.1138T>C (p.Leu380=) rs945190511 0.00003
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528 0.00003
NM_015443.4(KANSL1):c.1431+13T>G rs1057520294 0.00003
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn) rs375555532 0.00003
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060 0.00003
NM_015443.4(KANSL1):c.1667T>G (p.Leu556Trp) rs200449833 0.00003
NM_015443.4(KANSL1):c.1781G>A (p.Arg594His) rs1057520691 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00003
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556 0.00003
NM_015443.4(KANSL1):c.2538A>G (p.Thr846=) rs148718200 0.00003
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 0.00003
NM_015443.4(KANSL1):c.2837+8G>A rs1057521434 0.00003
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739 0.00003
NM_015443.4(KANSL1):c.3008C>T (p.Thr1003Ile) rs775516828 0.00003
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347 0.00003
NM_015443.4(KANSL1):c.3082G>C (p.Asp1028His) rs765297359 0.00003
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu) rs781609742 0.00003
NM_015443.4(KANSL1):c.387A>G (p.Pro129=) rs753493307 0.00003
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00003
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) rs767960522 0.00003
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu) rs767565501 0.00003
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr) rs747621748 0.00002
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_015443.4(KANSL1):c.1290-20C>T rs373424916 0.00002
NM_015443.4(KANSL1):c.1459C>G (p.Pro487Ala) rs566436667 0.00002
NM_015443.4(KANSL1):c.2791C>T (p.Arg931Trp) rs377108187 0.00002
NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His) rs768018906 0.00002
NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu) rs542543248 0.00002
NM_015443.4(KANSL1):c.669T>C (p.Tyr223=) rs778659171 0.00002
NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe) rs1343422507 0.00002
NM_015443.4(KANSL1):c.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.100G>A (p.Ala34Thr) rs761416645 0.00001
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) rs369793673 0.00001
NM_015443.4(KANSL1):c.1227G>A (p.Gly409=) rs759914607 0.00001
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val) rs191058987 0.00001
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 0.00001
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His) rs770719196 0.00001
NM_015443.4(KANSL1):c.1547C>G (p.Ser516Cys) rs796052584 0.00001
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val) rs551923672 0.00001
NM_015443.4(KANSL1):c.1779A>G (p.Thr593=) rs372072783 0.00001
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg) rs749811911 0.00001
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln) rs752415137 0.00001
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) rs768152581 0.00001
NM_015443.4(KANSL1):c.2067G>T (p.Trp689Cys) rs755418917 0.00001
NM_015443.4(KANSL1):c.2077C>G (p.Pro693Ala) rs1057520758 0.00001
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710 0.00001
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_015443.4(KANSL1):c.2203+18G>A rs764721407 0.00001
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val) rs754877424 0.00001
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) rs776349500 0.00001
NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile) rs1057523139 0.00001
NM_015443.4(KANSL1):c.267T>C (p.Ser89=) rs756494221 0.00001
NM_015443.4(KANSL1):c.2724+17T>C rs1057523856 0.00001
NM_015443.4(KANSL1):c.2808G>A (p.Thr936=) rs372559911 0.00001
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser) rs1315792143 0.00001
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) rs1057522661 0.00001
NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=) rs748843892 0.00001
NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=) rs779686052 0.00001
NM_015443.4(KANSL1):c.3091-5_3091-2dup rs760084513 0.00001
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=) rs960036500 0.00001
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys) rs1259929847 0.00001
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln) rs763541067 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_015443.4(KANSL1):c.439A>G (p.Thr147Ala) rs761775758 0.00001
NM_015443.4(KANSL1):c.500A>G (p.His167Arg) rs779594202 0.00001
NM_015443.4(KANSL1):c.520A>G (p.Thr174Ala) rs1057520684 0.00001
NM_015443.4(KANSL1):c.585A>G (p.Gly195=) rs751318218 0.00001
NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser) rs1057520810 0.00001
NM_015443.4(KANSL1):c.682A>T (p.Thr228Ser) rs762022186 0.00001
NM_015443.4(KANSL1):c.702C>A (p.Val234=) rs1057521846 0.00001
NM_015443.4(KANSL1):c.723A>G (p.Ala241=) rs375054119 0.00001
NM_015443.4(KANSL1):c.744A>G (p.Leu248=) rs748000142 0.00001
NM_015443.4(KANSL1):c.858T>C (p.Ala286=) rs923328856 0.00001
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys) rs755353984 0.00001
NM_015443.4(KANSL1):c.8C>T (p.Ala3Val) rs376233244 0.00001
NM_015443.4(KANSL1):c.910C>T (p.Arg304Cys) rs756749550 0.00001
NM_015443.4(KANSL1):c.912C>T (p.Arg304=) rs1175646397 0.00001
NM_015443.4(KANSL1):c.99T>C (p.Ser33=) rs766805510 0.00001
NM_001193465.2(KANSL1):c.-223-161A>G
NM_001193465.2(KANSL1):c.-223-43G>A
NM_015443.4(KANSL1):c.*17T>A
NM_015443.4(KANSL1):c.-194C>A
NM_015443.4(KANSL1):c.-23_-2del
NM_015443.4(KANSL1):c.-49CTCGGC[1] rs769218713
NM_015443.4(KANSL1):c.-49CTCGGC[3] rs769218713
NM_015443.4(KANSL1):c.-70G>T rs1203577051
NM_015443.4(KANSL1):c.-72C>T rs1555576484
NM_015443.4(KANSL1):c.-89-303A>G
NM_015443.4(KANSL1):c.-89-322dup
NM_015443.4(KANSL1):c.-89-337A>G
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699
NM_015443.4(KANSL1):c.-90+267A>G rs62060947
NM_015443.4(KANSL1):c.-90+348_-90+352del rs141752007
NM_015443.4(KANSL1):c.-90+392G>A rs1057523278
NM_015443.4(KANSL1):c.-90+420C>A rs189789192
NM_015443.4(KANSL1):c.-90+420C>G rs189789192
NM_015443.4(KANSL1):c.-90+463C>T
NM_015443.4(KANSL1):c.-90+500_-90+501dup
NM_015443.4(KANSL1):c.-90+500_-90+502dup
NM_015443.4(KANSL1):c.-90+500dup
NM_015443.4(KANSL1):c.-90+512del
NM_015443.4(KANSL1):c.-90+643G>A
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter) rs1555575197
NM_015443.4(KANSL1):c.1010_1011delinsTG (p.Ser337Leu) rs1064795666
NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)
NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr)
NM_015443.4(KANSL1):c.1087A>G (p.Thr363Ala)
NM_015443.4(KANSL1):c.1098A>T (p.Gly366=)
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly) rs796052602
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_015443.4(KANSL1):c.1230G>T (p.Glu410Asp) rs777308407
NM_015443.4(KANSL1):c.1248A>G (p.Glu416=) rs1057521219
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg)
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_015443.4(KANSL1):c.1290-139del rs66674327
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp)
NM_015443.4(KANSL1):c.1348A>C (p.Asn450His) rs1057520848
NM_015443.4(KANSL1):c.134C>T (p.Ala45Val) rs1555576198
NM_015443.4(KANSL1):c.1364A>G (p.His455Arg) rs1057521224
NM_015443.4(KANSL1):c.1410C>A (p.Tyr470Ter) rs776206707
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1431+169C>T
NM_015443.4(KANSL1):c.1432-140G>T
NM_015443.4(KANSL1):c.1432-28T>C
NM_015443.4(KANSL1):c.1483T>C (p.Phe495Leu) rs757581698
NM_015443.4(KANSL1):c.1491A>C (p.Pro497=)
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_015443.4(KANSL1):c.1522A>T (p.Thr508Ser) rs1598573095
NM_015443.4(KANSL1):c.1532del (p.Lys510_Leu511insTer) rs886039733
NM_015443.4(KANSL1):c.1534-300CT[5] rs144435729
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs) rs1057518182
NM_015443.4(KANSL1):c.158C>G (p.Ala53Gly) rs796052599
NM_015443.4(KANSL1):c.1606A>G (p.Thr536Ala) rs1057520967
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_015443.4(KANSL1):c.1650C>T (p.Asn550=) rs1057523989
NM_015443.4(KANSL1):c.1651dup (p.Thr551fs) rs1057518010
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1652+48T>C
NM_015443.4(KANSL1):c.1653-136A>G
NM_015443.4(KANSL1):c.1672G>C (p.Asp558His) rs796052594
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter)
NM_015443.4(KANSL1):c.1738G>C (p.Val580Leu) rs117412152
NM_015443.4(KANSL1):c.1774C>G (p.Arg592Gly) rs774841964
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1849-110C>G
NM_015443.4(KANSL1):c.1849-55T>G rs12150447
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu) rs796052585
NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg) rs761226381
NM_015443.4(KANSL1):c.2020+19T>C rs1030510609
NM_015443.4(KANSL1):c.2021-234A>C
NM_015443.4(KANSL1):c.2058del (p.Lys686fs) rs1064793433
NM_015443.4(KANSL1):c.2125G>A (p.Ala709Thr) rs796052586
NM_015443.4(KANSL1):c.213C>T (p.Asp71=) rs1041951554
NM_015443.4(KANSL1):c.2203+1G>A rs796052595
NM_015443.4(KANSL1):c.2203+225G>T rs16940845
NM_015443.4(KANSL1):c.2203+75G>A
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.2235G>C (p.Arg745Ser) rs995942850
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.22C>G (p.Leu8Val)
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs) rs1064796433
NM_015443.4(KANSL1):c.2324C>G (p.Pro775Arg) rs796052587
NM_015443.4(KANSL1):c.2371C>A (p.His791Asn) rs1057523108
NM_015443.4(KANSL1):c.2392+15A>G rs769760161
NM_015443.4(KANSL1):c.2401C>A (p.His801Asn) rs1057520851
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
NM_015443.4(KANSL1):c.2493T>G (p.Asp831Glu) rs1457193430
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn) rs796052597
NM_015443.4(KANSL1):c.2541+18G>A
NM_015443.4(KANSL1):c.2541+24C>G
NM_015443.4(KANSL1):c.2542-308G>A
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys)
NM_015443.4(KANSL1):c.2589C>T (p.Asn863=) rs1555731788
NM_015443.4(KANSL1):c.264A>G (p.Thr88=) rs1057520987
NM_015443.4(KANSL1):c.2661G>A (p.Thr887=) rs769682055
NM_015443.4(KANSL1):c.2666+29C>A
NM_015443.4(KANSL1):c.2666+3A>G
NM_015443.4(KANSL1):c.2666+49C>T
NM_015443.4(KANSL1):c.266C>T (p.Ser89Phe) rs1057520835
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2724+23A>G
NM_015443.4(KANSL1):c.2724+32C>T
NM_015443.4(KANSL1):c.2768A>G (p.Lys923Arg) rs1555731268
NM_015443.4(KANSL1):c.2830_2837+13del rs1064796289
NM_015443.4(KANSL1):c.2838-178T>C
NM_015443.4(KANSL1):c.2838-52C>T
NM_015443.4(KANSL1):c.2838-9G>T
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.2951C>A (p.Ser984Tyr) rs796052588
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs) rs1598441446
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=) rs767403167
NM_015443.4(KANSL1):c.2994C>T (p.His998=) rs1555730816
NM_015443.4(KANSL1):c.3035A>G (p.His1012Arg) rs1057522732
NM_015443.4(KANSL1):c.3090+43A>G
NM_015443.4(KANSL1):c.3091-167C>T
NM_015443.4(KANSL1):c.3091-35A>G
NM_015443.4(KANSL1):c.3094G>T (p.Val1032Phe) rs767917046
NM_015443.4(KANSL1):c.3141G>C (p.Gln1047His) rs796052589
NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg) rs796052590
NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg) rs1057523651
NM_015443.4(KANSL1):c.315G>A (p.Gln105=) rs761904417
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
NM_015443.4(KANSL1):c.3215C>T (p.Thr1072Ile) rs1057520993
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu) rs796052598
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) rs761370843
NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr) rs528026295
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
NM_015443.4(KANSL1):c.500A>C (p.His167Pro) rs779594202
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs) rs1064794038
NM_015443.4(KANSL1):c.552T>C (p.Thr184=) rs772655276
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) rs1304078301
NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser) rs761141661
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_015443.4(KANSL1):c.632C>T (p.Pro211Leu) rs1057520685
NM_015443.4(KANSL1):c.635A>C (p.His212Pro) rs141110759
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.699dup (p.Val234fs)
NM_015443.4(KANSL1):c.706T>A (p.Ser236Thr) rs747832991
NM_015443.4(KANSL1):c.750T>C (p.Pro250=) rs1555575566
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015443.4(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_015443.4(KANSL1):c.798A>G (p.Lys266=)
NM_015443.4(KANSL1):c.808del (p.Leu270fs) rs1555575489
NM_015443.4(KANSL1):c.845C>A (p.Thr282Lys) rs779421348
NM_015443.4(KANSL1):c.876T>G (p.Ala292=) rs1057522110
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
NM_015443.4(KANSL1):c.911G>A (p.Arg304His) rs1484397126
NM_015443.4(KANSL1):c.930del (p.Lys311fs) rs1597871799
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305
Single allele

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