ClinVar Miner

List of variants in gene KANSL1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015443.4(KANSL1):c.2837+175C>T rs7350980 0.23567
NM_015443.4(KANSL1):c.2724+99G>C rs4597358 0.23538
NM_015443.4(KANSL1):c.2203+118A>C rs7221390 0.23532
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.14928
NM_015443.4(KANSL1):c.741A>G (p.Arg247=) rs1881193 0.14687
NM_015443.4(KANSL1):c.-89-202C>T rs2532270 0.14596
NM_015443.4(KANSL1):c.-90+130T>A rs2696633 0.14591
NC_000017.11:g.46225515C>T rs2532404 0.14583
NM_015443.4(KANSL1):c.-90+643G>A rs2732596 0.14582
NM_015443.4(KANSL1):c.1289+179C>T rs2532271 0.14582
NM_015443.4(KANSL1):c.-90+225A>T rs11079733 0.14581
NM_015443.4(KANSL1):c.696C>T (p.Ser232=) rs1881194 0.14580
NM_015443.4(KANSL1):c.-89-23T>C rs2696662 0.14571
NM_015443.4(KANSL1):c.1432-80C>T rs17576200 0.14483
NM_015443.4(KANSL1):c.2392+81A>G rs62062136 0.14482
NM_015443.4(KANSL1):c.2541+174C>T rs12150542 0.14480
NM_015443.4(KANSL1):c.1533+252G>T rs77138434 0.14477
NM_015443.4(KANSL1):c.1652+281C>T rs17659731 0.14477
NM_015443.4(KANSL1):c.1653-54A>G rs62060798 0.14476
NM_015443.4(KANSL1):c.2021-147T>C rs10514897 0.14473
NM_015443.4(KANSL1):c.1533+112G>A rs77925835 0.14472
NM_015443.4(KANSL1):c.1653-153C>A rs62060799 0.14472
NM_015443.4(KANSL1):c.1533+176A>C rs111913701 0.14471
NM_015443.4(KANSL1):c.1653-289G>T rs17575850 0.14471
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14471
NM_015443.4(KANSL1):c.2667-283T>C rs62062321 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.2838-104G>C rs1076222 0.14470
NM_015443.4(KANSL1):c.1653-247T>C rs17575822 0.14469
NM_015443.4(KANSL1):c.1533+82G>A rs17659953 0.14468
NM_015443.4(KANSL1):c.2542-176G>T rs17653162 0.14465
NM_015443.4(KANSL1):c.2392+155C>T rs41437445 0.14464
NM_015443.4(KANSL1):c.2667-62T>A rs77009866 0.14464
NM_015443.4(KANSL1):c.1290-260A>T rs17576695 0.14399
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.2838-178T>C rs1078997 0.13903
NM_015443.4(KANSL1):c.1431+169C>T rs72628324 0.13479
NC_000017.11:g.46225538T>C rs2532403 0.13131
NC_000017.11:g.46225386G>A rs2907488 0.12987
NM_001193465.2(KANSL1):c.-223-161A>G rs386320 0.12987
NM_015443.4(KANSL1):c.1534-340A>G rs75641221 0.12617
NM_015443.4(KANSL1):c.3091-119G>C rs17574425 0.12591
NM_015443.4(KANSL1):c.1533+135T>C rs111519055 0.12569
NM_015443.4(KANSL1):c.-90+463C>T rs2696635 0.12476
NM_015443.4(KANSL1):c.-90+267A>G rs62060947 0.11661
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.662C>T (p.Thr221Ile) rs17662853 0.10907
NM_015443.4(KANSL1):c.1533+101G>C rs16940874 0.05961
NM_015443.4(KANSL1):c.2542-308G>A rs16940834 0.04772
NM_015443.4(KANSL1):c.1653-116A>G rs2301732 0.04679
NM_015443.4(KANSL1):c.1653-136A>G rs117385703 0.03387
NM_015443.4(KANSL1):c.2667-204G>T rs73317042 0.03264
NM_015443.4(KANSL1):c.-89-240G>A rs9911018 0.03130
NM_001193465.2(KANSL1):c.-223-43G>A rs541170077 0.02801
NC_000017.11:g.46225481G>C rs73984702 0.02120
NM_015443.4(KANSL1):c.-89-337A>G rs10083827 0.01200
NM_015443.4(KANSL1):c.1432-140G>T rs115646678 0.01108
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 0.00805
NM_015443.4(KANSL1):c.2203+75G>A rs150150664 0.00640
NM_015443.4(KANSL1):c.-89-303A>G rs12451674 0.00546
NM_015443.4(KANSL1):c.*954C>G rs150500194 0.00393
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00174
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00164
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_015443.4(KANSL1):c.2838-52C>T rs367992334 0.00102
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.800A>G (p.Lys267Arg) rs140181991 0.00080
NM_015443.4(KANSL1):c.3091-35A>G rs113277369 0.00078
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_015443.4(KANSL1):c.1432-28T>C rs199769644 0.00068
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936 0.00049
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00044
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
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.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile) rs144337302 0.00031
NM_015443.4(KANSL1):c.3090+43A>G rs201824489 0.00030
NM_015443.4(KANSL1):c.*17T>A rs567243937 0.00029
NM_015443.4(KANSL1):c.2666+49C>T rs377022646 0.00029
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 0.00026
NM_015443.4(KANSL1):c.2666+29C>A rs138919178 0.00024
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.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) rs139843442 0.00016
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760 0.00015
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.719C>T (p.Pro240Leu) rs767565501 0.00012
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00011
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala) rs199948200 0.00011
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467 0.00009
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly) rs751709708 0.00008
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=) rs370904425 0.00008
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) rs200903841 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.2755G>A (p.Ala919Thr) rs776547113 0.00007
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 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.1057G>A (p.Ala353Thr) rs1466777621 0.00005
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.*3G>A rs372125138 0.00004
NM_015443.4(KANSL1):c.-47C>T rs765669550 0.00004
NM_015443.4(KANSL1):c.1087A>G (p.Thr363Ala) rs138704004 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.3056G>A (p.Arg1019His) rs781056926 0.00004
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp) rs375225315 0.00004
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051 0.00003
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060 0.00003
NM_015443.4(KANSL1):c.1929C>T (p.Thr643=) rs937831873 0.00003
NM_015443.4(KANSL1):c.2724+32C>T rs369804494 0.00003
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739 0.00003
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347 0.00003
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu) rs781609742 0.00003
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 0.00002
NM_015443.4(KANSL1):c.1098A>T (p.Gly366=) rs770047969 0.00002
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=) rs148259171 0.00002
NM_015443.4(KANSL1):c.228A>G (p.Gln76=) rs1018528687 0.00002
NM_015443.4(KANSL1):c.669T>C (p.Tyr223=) rs778659171 0.00002
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val) rs766991003 0.00002
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His) rs770719196 0.00001
NM_015443.4(KANSL1):c.1652+48T>C rs200482801 0.00001
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val) rs551923672 0.00001
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008 0.00001
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg) rs749811911 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.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556 0.00001
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.2505C>T (p.Pro835=) rs1037817208 0.00001
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) rs776349500 0.00001
NM_015443.4(KANSL1):c.2724+23A>G rs544544589 0.00001
NM_015443.4(KANSL1):c.2838-9G>T rs190142867 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.500A>G (p.His167Arg) rs779594202 0.00001
NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser) rs1057520810 0.00001
NM_015443.4(KANSL1):c.702C>A (p.Val234=) rs1057521846 0.00001
NM_015443.4(KANSL1):c.798A>G (p.Lys266=) rs765667414 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
GRCh37/hg19 17q21.31(chr17:44108100-44129253)x1
GRCh37/hg19 17q21.31(chr17:44121342-44368212)x3
GRCh37/hg19 17q21.31(chr17:44133070-44291381)x3
GRCh37/hg19 17q21.31(chr17:44133070-44291479)x3
GRCh37/hg19 17q21.31(chr17:44133070-44293981)x3
GRCh37/hg19 17q21.31(chr17:44135737-44212416)x1
GRCh37/hg19 17q21.31(chr17:44135827-44293981)x3
GRCh37/hg19 17q21.31(chr17:44135827-44294494)x3
GRCh37/hg19 17q21.31(chr17:44135985-44292319)x3
GRCh37/hg19 17q21.31(chr17:44147793-44293981)x2
GRCh37/hg19 17q21.31(chr17:44150161-44277825)x3
GRCh37/hg19 17q21.31(chr17:44157597-44291399)x3
GRCh37/hg19 17q21.31(chr17:44157597-44293981)x3
GRCh37/hg19 17q21.31(chr17:44157597-44294494)x3
GRCh37/hg19 17q21.31(chr17:44159988-44293981)x3
GRCh37/hg19 17q21.31(chr17:44160674-44293981)x3
GRCh37/hg19 17q21.31(chr17:44160674-44298279)x2
GRCh37/hg19 17q21.31(chr17:44161441-44284057)x3
GRCh37/hg19 17q21.31(chr17:44161441-44293981)x3
GRCh37/hg19 17q21.31(chr17:44161441-44298279)x1
GRCh37/hg19 17q21.31(chr17:44162284-44293981)x3
GRCh37/hg19 17q21.31(chr17:44163809-44292319)x3
GRCh37/hg19 17q21.31(chr17:44163925-44291479)x3
GRCh37/hg19 17q21.31(chr17:44163925-44298279)x3
GRCh37/hg19 17q21.31(chr17:44163925-44364649)x3
GRCh37/hg19 17q21.31(chr17:44164918-44194646)x3
GRCh37/hg19 17q21.31(chr17:44164918-44259919)x3
GRCh37/hg19 17q21.31(chr17:44164918-44277867)x3
GRCh37/hg19 17q21.31(chr17:44164918-44290047)x3
GRCh37/hg19 17q21.31(chr17:44164918-44291399)x3
GRCh37/hg19 17q21.31(chr17:44164918-44291479)x4
GRCh37/hg19 17q21.31(chr17:44164918-44292126)x3
GRCh37/hg19 17q21.31(chr17:44164918-44292896)x3
GRCh37/hg19 17q21.31(chr17:44164918-44294105)x3
GRCh37/hg19 17q21.31(chr17:44164918-44296000)x3
GRCh37/hg19 17q21.31(chr17:44164918-44296224)x3
GRCh37/hg19 17q21.31(chr17:44164918-44326245)x3
GRCh37/hg19 17q21.31(chr17:44164956-44269493)x3
GRCh37/hg19 17q21.31(chr17:44164956-44273264)x3
GRCh37/hg19 17q21.31(chr17:44164956-44281308)x3
GRCh37/hg19 17q21.31(chr17:44164956-44292126)x3
GRCh37/hg19 17q21.31(chr17:44164956-44292319)x3
GRCh37/hg19 17q21.31(chr17:44164956-44293981)x3
GRCh37/hg19 17q21.31(chr17:44164956-44294105)x3
GRCh37/hg19 17q21.31(chr17:44164956-44294494)x3
GRCh37/hg19 17q21.31(chr17:44164956-44298279)x3
GRCh37/hg19 17q21.31(chr17:44164956-44326245)x3
GRCh37/hg19 17q21.31(chr17:44164956-44343902)x3
GRCh37/hg19 17q21.31(chr17:44164956-44350090)x3
GRCh37/hg19 17q21.31(chr17:44165803-44197806)x3
GRCh37/hg19 17q21.31(chr17:44165803-44212727)x3
GRCh37/hg19 17q21.31(chr17:44165803-44266531)x3
GRCh37/hg19 17q21.31(chr17:44165803-44277265)x3
GRCh37/hg19 17q21.31(chr17:44165803-44277825)x3
GRCh37/hg19 17q21.31(chr17:44165803-44277867)x3
GRCh37/hg19 17q21.31(chr17:44165803-44288156)x3
GRCh37/hg19 17q21.31(chr17:44165803-44288640)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292126)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292319)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292884)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292896)x3
GRCh37/hg19 17q21.31(chr17:44165803-44294105)x3
GRCh37/hg19 17q21.31(chr17:44165803-44294494)x3
GRCh37/hg19 17q21.31(chr17:44165803-44295695)x3
GRCh37/hg19 17q21.31(chr17:44165803-44296224)x3
GRCh37/hg19 17q21.31(chr17:44165803-44298279)x3
GRCh37/hg19 17q21.31(chr17:44165803-44350090)x3
GRCh37/hg19 17q21.31(chr17:44165803-44357351)x3
GRCh37/hg19 17q21.31(chr17:44165803-44364649)x3
GRCh37/hg19 17q21.31(chr17:44165803-44368212)x4
GRCh37/hg19 17q21.31(chr17:44166193-44368212)x3
GRCh37/hg19 17q21.31(chr17:44166455-44179155)x3
GRCh37/hg19 17q21.31(chr17:44166455-44291399)x3
GRCh37/hg19 17q21.31(chr17:44166455-44292319)x3
GRCh37/hg19 17q21.31(chr17:44166455-44292884)x3
GRCh37/hg19 17q21.31(chr17:44166500-44294105)x3
GRCh37/hg19 17q21.31(chr17:44166646-44292126)x3
GRCh37/hg19 17q21.31(chr17:44166669-44292319)x3
GRCh37/hg19 17q21.31(chr17:44167366-44296224)x3
GRCh37/hg19 17q21.31(chr17:44169605-44292319)x2
GRCh37/hg19 17q21.31(chr17:44169808-44293981)x3
GRCh37/hg19 17q21.31(chr17:44170018-44326245)x3
GRCh37/hg19 17q21.31(chr17:44176209-44274474)x2
GRCh37/hg19 17q21.31(chr17:44177993-44296224)x2
GRCh37/hg19 17q21.31(chr17:44178337-44368212)x1
GRCh37/hg19 17q21.31(chr17:44189067-44345063)x3
GRCh37/hg19 17q21.31(chr17:44189067-44350090)x3
GRCh37/hg19 17q21.31(chr17:44199417-44292319)x4
GRCh37/hg19 17q21.31(chr17:44199417-44298279)x2
GRCh37/hg19 17q21.31(chr17:44202852-44292884)x2
GRCh37/hg19 17q21.31(chr17:44202852-44298279)x1
GRCh37/hg19 17q21.31(chr17:44205500-44291479)x3
GRCh37/hg19 17q21.31(chr17:44206079-44294105)x1
GRCh37/hg19 17q21.31(chr17:44212310-44292319)x1
GRCh37/hg19 17q21.31(chr17:44212727-44298279)x3
GRCh37/hg19 17q21.31(chr17:44213187-44223107)x3
GRCh37/hg19 17q21.31(chr17:44213187-44274985)x3
GRCh37/hg19 17q21.31(chr17:44213187-44288579)x3
GRCh37/hg19 17q21.31(chr17:44213187-44288640)x3
GRCh37/hg19 17q21.31(chr17:44213187-44291479)x3
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x3
GRCh37/hg19 17q21.31(chr17:44213187-44293981)x1
GRCh37/hg19 17q21.31(chr17:44213187-44294105)x3
GRCh37/hg19 17q21.31(chr17:44213187-44298279)x3
GRCh37/hg19 17q21.31(chr17:44213187-44326245)x3
GRCh37/hg19 17q21.31(chr17:44213712-44294105)x3
GRCh37/hg19 17q21.31(chr17:44214888-44296224)x3
GRCh37/hg19 17q21.31(chr17:44215823-44279803)x3
GRCh37/hg19 17q21.31(chr17:44215823-44288284)x3
GRCh37/hg19 17q21.31(chr17:44215823-44288640)x3
GRCh37/hg19 17q21.31(chr17:44215823-44292126)x3
GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2
GRCh37/hg19 17q21.31(chr17:44215823-44296224)x3
GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1
GRCh37/hg19 17q21.31(chr17:44216322-44284600)x3
GRCh37/hg19 17q21.31(chr17:44217267-44288284)x3
GRCh37/hg19 17q21.31(chr17:44218044-44298279)x3
GRCh37/hg19 17q21.31(chr17:44221602-44231117)x3
GRCh37/hg19 17q21.31(chr17:44240502-44288284)x3
GRCh37/hg19 17q21.31(chr17:44240986-44331214)x3
GRCh37/hg19 17q21.31(chr17:44240986-44350090)x3
GRCh37/hg19 17q21.31(chr17:44240986-44354796)x3
GRCh37/hg19 17q21.31(chr17:44240986-44368212)x3
GRCh37/hg19 17q21.31(chr17:44249838-44259539)x3
GRCh37/hg19 17q21.31(chr17:44263923-44277825)x3
GRCh37/hg19 17q21.31(chr17:44274474-44277017)x3
GRCh37/hg19 17q21.31(chr17:44274985-44292319)x3
GRCh37/hg19 17q21.31(chr17:44275035-44277825)x4
GRCh37/hg19 17q21.31(chr17:44285531-44292319)x3
GRCh37/hg19 17q21.31(chr17:44285531-44293981)x3
GRCh37/hg19 17q21.31(chr17:44285683-44293981)x3
NM_001193466.1:c.1290-?_1431+?dup
NM_015443.4(KANSL1):c.*1519AAG[1]
NM_015443.4(KANSL1):c.-194C>A rs56266533
NM_015443.4(KANSL1):c.-23_-2del rs2147753838
NM_015443.4(KANSL1):c.-89-322dup rs35095455
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699
NM_015443.4(KANSL1):c.-90+348_-90+352del rs141752007
NM_015443.4(KANSL1):c.-90+500_-90+501dup rs373582551
NM_015443.4(KANSL1):c.-90+500_-90+502dup rs373582551
NM_015443.4(KANSL1):c.-90+500dup rs373582551
NM_015443.4(KANSL1):c.-90+512del rs373582551
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter) rs1555575197
NM_015443.4(KANSL1):c.1036C>A (p.Leu346Met)
NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly) rs932987742
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly) rs796052602
NM_015443.4(KANSL1):c.1185dup (p.Gln396fs)
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_015443.4(KANSL1):c.1220C>G (p.Ser407Ter)
NM_015443.4(KANSL1):c.1268_1269del (p.Pro423fs) rs1555574888
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg) rs2147730177
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs) rs2046246646
NM_015443.4(KANSL1):c.1290-139del rs66674327
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp) rs2146948079
NM_015443.4(KANSL1):c.1384C>T (p.Arg462Ter)
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
NM_015443.4(KANSL1):c.1450del (p.Glu484fs) rs34878385
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu)
NM_015443.4(KANSL1):c.1479C>T (p.Asp493=)
NM_015443.4(KANSL1):c.1491A>C (p.Pro497=) rs17576165
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.1563C>G (p.Asn521Lys) rs886043787
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs) rs1057518182
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg) rs2078428545
NM_015443.4(KANSL1):c.158C>G (p.Ala53Gly) rs796052599
NM_015443.4(KANSL1):c.1651dup (p.Thr551fs) rs1057518010
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1672G>C (p.Asp558His) rs796052594
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter) rs2146658002
NM_015443.4(KANSL1):c.1774C>G (p.Arg592Gly) rs774841964
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)
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.1848G>T (p.Lys616Asn) rs1057520050
NM_015443.4(KANSL1):c.1849-110C>G rs7208413
NM_015443.4(KANSL1):c.1849-55T>G rs12150447
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter)
NM_015443.4(KANSL1):c.1944dup (p.His649fs)
NM_015443.4(KANSL1):c.2021-234A>C rs138420167
NM_015443.4(KANSL1):c.2058del (p.Lys686fs) rs1064793433
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
NM_015443.4(KANSL1):c.2109dup (p.Ser704fs)
NM_015443.4(KANSL1):c.2203+1G>A rs796052595
NM_015443.4(KANSL1):c.2203+225G>T rs16940845
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.22C>G (p.Leu8Val) rs2046320616
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs) rs1064796433
NM_015443.4(KANSL1):c.2392_2392+1dup
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.2495C>A (p.Ser832Tyr)
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn) rs796052597
NM_015443.4(KANSL1):c.2541+157A>C
NM_015443.4(KANSL1):c.2541+18G>A rs12150090
NM_015443.4(KANSL1):c.2541+24C>G rs141409854
NM_015443.4(KANSL1):c.2542-2A>G rs2077089395
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys) rs2146325036
NM_015443.4(KANSL1):c.2589C>T (p.Asn863=) rs1555731788
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met)
NM_015443.4(KANSL1):c.2666+3A>G rs2146324420
NM_015443.4(KANSL1):c.2667-1G>A rs2077066926
NM_015443.4(KANSL1):c.2667-4dup rs2077067052
NM_015443.4(KANSL1):c.2685T>G (p.Leu895=)
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2827C>T (p.Arg943Trp)
NM_015443.4(KANSL1):c.2830_2837+13del rs1064796289
NM_015443.4(KANSL1):c.2838-8G>A rs1355646117
NM_015443.4(KANSL1):c.2902del (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs) rs1598441446
NM_015443.4(KANSL1):c.3091-167C>T rs117568760
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys) rs2146302096
NM_015443.4(KANSL1):c.3168A>G (p.Ala1056=)
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter) rs2146300587
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
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.372G>T (p.Leu124=) rs778607325
NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr) rs528026295
NM_015443.4(KANSL1):c.399_400insAAT (p.Phe133_Ser134insAsn) rs770503769
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_015443.4(KANSL1):c.421A>G (p.Met141Val)
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile) rs2046297678
NM_015443.4(KANSL1):c.528C>T (p.Leu176=)
NM_015443.4(KANSL1):c.529A>G (p.Asn177Asp)
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.570G>A (p.Gly190=) rs1365962710
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr) rs2147744627
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp) rs138175526
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) rs1304078301
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.699dup (p.Val234fs) rs2147741933
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) rs142096969
NM_015443.4(KANSL1):c.749C>G (p.Pro250Arg)
NM_015443.4(KANSL1):c.749C>T (p.Pro250Leu)
NM_015443.4(KANSL1):c.74C>T (p.Pro25Leu)
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe)
NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser) rs1159067199
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015443.4(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_015443.4(KANSL1):c.788del (p.Leu263fs) rs2147739739
NM_015443.4(KANSL1):c.808del (p.Leu270fs) rs1555575489
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
NM_015443.4(KANSL1):c.917A>G (p.Gln306Arg)
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile)
NM_015443.4(KANSL1):c.930del (p.Lys311fs) rs1597871799

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