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: 407
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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.-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.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.297A>G (p.Gln99=) rs34801822 0.00137
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile) rs117412152 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.1285C>A (p.Pro429Thr) rs142062936 0.00032
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 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.3146A>G (p.Glu1049Gly) rs771796347 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.1180A>G (p.Ser394Gly) rs751709708 0.00008
NM_015443.4(KANSL1):c.3091-10C>T rs199901217 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.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 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.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.*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.3056G>A (p.Arg1019His) rs781056926 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.2224C>T (p.Arg742Trp) rs150282556 0.00003
NM_015443.4(KANSL1):c.2424G>A (p.Ser808=) rs570967215 0.00003
NM_015443.4(KANSL1):c.2541G>A (p.Ser847=) rs200079722 0.00003
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 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.387A>G (p.Pro129=) rs753493307 0.00003
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00003
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro) rs747832991 0.00003
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu) rs767565501 0.00003
NM_015443.4(KANSL1):c.954A>G (p.Gln318=) rs773332161 0.00003
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.669T>C (p.Tyr223=) rs778659171 0.00002
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val) rs766991003 0.00002
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala) rs778528850 0.00001
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His) rs770719196 0.00001
NM_015443.4(KANSL1):c.1671A>G (p.Ala557=) rs769241683 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.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) rs776349500 0.00001
NM_015443.4(KANSL1):c.2856C>T (p.Asp952=) rs1431158114 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.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(chr17:44135827-44293981)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_001193465.2(KANSL1):c.-223-161A>G
NM_001193465.2(KANSL1):c.-223-43G>A
NM_001193466.1:c.1290-?_1431+?dup
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.-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+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.1000A>T (p.Asn334Tyr) rs112150341
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter) rs1555575197
NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)
NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr)
NM_015443.4(KANSL1):c.1080G>A (p.Glu360=) rs1232525310
NM_015443.4(KANSL1):c.1087A>G (p.Thr363Ala)
NM_015443.4(KANSL1):c.1098A>T (p.Gly366=)
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly) rs796052602
NM_015443.4(KANSL1):c.1152A>G (p.Thr384=) rs1597870803
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_015443.4(KANSL1):c.1268_1269del (p.Pro423fs) rs1555574888
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg)
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)
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.1450del (p.Glu484fs) rs34878385
NM_015443.4(KANSL1):c.1491A>C (p.Pro497=)
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_015443.4(KANSL1):c.1512A>G (p.Thr504=) rs1483287405
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)
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.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.1774C>G (p.Arg592Gly) rs774841964
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) 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.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn) rs1057520050
NM_015443.4(KANSL1):c.1849-110C>G
NM_015443.4(KANSL1):c.1849-55T>G rs12150447
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
NM_015443.4(KANSL1):c.2021-234A>C
NM_015443.4(KANSL1):c.2058del (p.Lys686fs) rs1064793433
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.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2271G>A (p.Val757=) rs1598456648
NM_015443.4(KANSL1):c.22C>G (p.Leu8Val)
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs) rs1064796433
NM_015443.4(KANSL1):c.2393-9C>A rs1004017370
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=) rs749802464
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.2542-2A>G rs2077089395
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.2666+29C>A
NM_015443.4(KANSL1):c.2666+3A>G
NM_015443.4(KANSL1):c.2666+49C>T
NM_015443.4(KANSL1):c.2667-1G>A rs2077066926
NM_015443.4(KANSL1):c.2667-4dup rs2077067052
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.2830_2837+13del rs1064796289
NM_015443.4(KANSL1):c.2837+7G>T rs780476310
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.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.3057T>C (p.Arg1019=) rs1598441174
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.3193C>T (p.Arg1065Ter)
NM_015443.4(KANSL1):c.3266A>G (p.Lys1089Arg) rs1568364868
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.399_400insAAT (p.Phe133_Ser134insAsn) rs770503769
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
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)
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) rs1304078301
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.699dup (p.Val234fs)
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
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)
NM_015443.4(KANSL1):c.798A>G (p.Lys266=)
NM_015443.4(KANSL1):c.808del (p.Leu270fs) rs1555575489
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
NM_015443.4(KANSL1):c.930C>T (p.Ala310=) rs763673329
NM_015443.4(KANSL1):c.930del (p.Lys311fs) rs1597871799
Single allele

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