ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 614
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.*954C>G rs150500194 0.00393
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00031
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760 0.00017
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.1261G>A (p.Ala421Thr) rs150115249 0.00010
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
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.1180A>G (p.Ser394Gly) rs751709708 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.896G>A (p.Arg299His) rs201785695 0.00007
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His) rs764291274 0.00006
NM_015443.4(KANSL1):c.2128C>A (p.Pro710Thr) rs550137256 0.00006
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr) rs140089320 0.00006
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe) rs750012482 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.1864A>G (p.Thr622Ala) rs567178302 0.00005
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly) rs141969887 0.00005
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe) rs537773238 0.00005
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg) rs570475423 0.00005
NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr) rs1466777621 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.1870C>T (p.Arg624Cys) rs368180304 0.00004
NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe) rs773238363 0.00004
NM_015443.4(KANSL1):c.890G>A (p.Arg297His) rs748350342 0.00004
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly) rs780539765 0.00004
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467 0.00003
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528 0.00003
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051 0.00003
NM_015443.4(KANSL1):c.1480T>G (p.Leu494Val) rs955924903 0.00003
NM_015443.4(KANSL1):c.1848+3C>T rs763185589 0.00003
NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln) rs1424923651 0.00003
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212 0.00003
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp) rs759914921 0.00003
NM_015443.4(KANSL1):c.2202C>G (p.Ala734=) rs1555734069 0.00003
NM_015443.4(KANSL1):c.2392+19C>T rs200777153 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.3091-3C>T rs374360315 0.00003
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu) rs781609742 0.00003
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) rs767960522 0.00003
NM_015443.4(KANSL1):c.583G>A (p.Gly195Arg) rs780762914 0.00003
NM_015443.4(KANSL1):c.936G>C (p.Gln312His) rs752395011 0.00003
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 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.1294C>T (p.Arg432Cys) rs755296202 0.00002
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val) rs767702173 0.00002
NM_015443.4(KANSL1):c.1957C>G (p.Pro653Ala) rs2510649381 0.00002
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu) rs762407803 0.00002
NM_015443.4(KANSL1):c.2155G>C (p.Ala719Pro) rs546820304 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_015443.4(KANSL1):c.2791C>T (p.Arg931Trp) rs377108187 0.00002
NM_015443.4(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022 0.00002
NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His) rs1289935394 0.00002
NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser) rs766543331 0.00002
NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe) rs1343422507 0.00002
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val) rs766991003 0.00002
NM_015443.4(KANSL1):c.869G>A (p.Arg290Gln) rs775473139 0.00002
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys) rs772236084 0.00002
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser) rs200997135 0.00001
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) rs369793673 0.00001
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile) rs775962610 0.00001
NM_015443.4(KANSL1):c.110A>G (p.Asn37Ser) rs769773348 0.00001
NM_015443.4(KANSL1):c.1145G>A (p.Arg382Lys) rs369920825 0.00001
NM_015443.4(KANSL1):c.1165G>A (p.Ala389Thr) rs761900361 0.00001
NM_015443.4(KANSL1):c.1166C>T (p.Ala389Val) rs368394693 0.00001
NM_015443.4(KANSL1):c.1213A>G (p.Ser405Gly) rs1165902493 0.00001
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888 0.00001
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His) rs754111757 0.00001
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His) rs760727599 0.00001
NM_015443.4(KANSL1):c.1391G>A (p.Arg464His) rs769289937 0.00001
NM_015443.4(KANSL1):c.1402G>C (p.Asp468His) rs745576981 0.00001
NM_015443.4(KANSL1):c.1405A>G (p.Ile469Val) rs1397262734 0.00001
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His) rs770719196 0.00001
NM_015443.4(KANSL1):c.142G>A (p.Gly48Arg) rs148847759 0.00001
NM_015443.4(KANSL1):c.1469A>C (p.His490Pro) rs2079022531 0.00001
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn) rs375555532 0.00001
NM_015443.4(KANSL1):c.1541C>T (p.Ser514Phe) rs755595611 0.00001
NM_015443.4(KANSL1):c.1568G>T (p.Gly523Val) rs1568411157 0.00001
NM_015443.4(KANSL1):c.1576A>G (p.Ile526Val) rs370560721 0.00001
NM_015443.4(KANSL1):c.1579A>G (p.Ile527Val) rs1300080423 0.00001
NM_015443.4(KANSL1):c.1615T>C (p.Cys539Arg) rs745919501 0.00001
NM_015443.4(KANSL1):c.1621G>A (p.Ala541Thr) rs2510764251 0.00001
NM_015443.4(KANSL1):c.1629A>T (p.Arg543Ser) rs1375084760 0.00001
NM_015443.4(KANSL1):c.1676A>G (p.His559Arg) rs886053069 0.00001
NM_015443.4(KANSL1):c.1768G>T (p.Ala590Ser) rs1372778597 0.00001
NM_015443.4(KANSL1):c.1781G>A (p.Arg594His) rs1057520691 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.1817G>A (p.Arg606Gln) rs758110910 0.00001
NM_015443.4(KANSL1):c.181C>A (p.Leu61Ile) rs1567764831 0.00001
NM_015443.4(KANSL1):c.1822A>T (p.Asn608Tyr) rs375533550 0.00001
NM_015443.4(KANSL1):c.1849-3C>T rs757213880 0.00001
NM_015443.4(KANSL1):c.1871G>A (p.Arg624His) rs774078834 0.00001
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg) rs2510650948 0.00001
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln) rs752415137 0.00001
NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg) rs761226381 0.00001
NM_015443.4(KANSL1):c.1991G>T (p.Cys664Phe) rs368245340 0.00001
NM_015443.4(KANSL1):c.1993G>A (p.Val665Ile) rs1180495776 0.00001
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) rs768152581 0.00001
NM_015443.4(KANSL1):c.2002G>A (p.Val668Ile) rs1055952978 0.00001
NM_015443.4(KANSL1):c.2040T>G (p.His680Gln) rs1418595836 0.00001
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu) rs1221529726 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.2194A>G (p.Thr732Ala) rs1036089094 0.00001
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met) rs773184800 0.00001
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu) rs761904173 0.00001
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met) rs749337566 0.00001
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His) rs144377285 0.00001
NM_015443.4(KANSL1):c.2321C>T (p.Pro774Leu) rs2077235534 0.00001
NM_015443.4(KANSL1):c.2392+3A>T rs1568374384 0.00001
NM_015443.4(KANSL1):c.2417G>A (p.Ser806Asn) rs539976549 0.00001
NM_015443.4(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079 0.00001
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) rs776349500 0.00001
NM_015443.4(KANSL1):c.2536A>G (p.Thr846Ala) rs2077218359 0.00001
NM_015443.4(KANSL1):c.2540C>T (p.Ser847Leu) rs754964384 0.00001
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met) rs779806189 0.00001
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg) rs774020325 0.00001
NM_015443.4(KANSL1):c.2740G>A (p.Asp914Asn) rs1200984517 0.00001
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln) rs1400431996 0.00001
NM_015443.4(KANSL1):c.2807C>T (p.Thr936Met) rs867665726 0.00001
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu) rs774259324 0.00001
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp) rs1322831151 0.00001
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln) rs376635152 0.00001
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser) rs1315792143 0.00001
NM_015443.4(KANSL1):c.2890C>T (p.Pro964Ser) rs2077031570 0.00001
NM_015443.4(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469 0.00001
NM_015443.4(KANSL1):c.2900C>A (p.Pro967His) rs770177501 0.00001
NM_015443.4(KANSL1):c.2941T>C (p.Ser981Pro) rs1249553881 0.00001
NM_015443.4(KANSL1):c.2963C>A (p.Ser988Tyr) rs2510369313 0.00001
NM_015443.4(KANSL1):c.2966C>G (p.Pro989Arg) rs2510369125 0.00001
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu) rs573432386 0.00001
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) rs1057522661 0.00001
NM_015443.4(KANSL1):c.3020G>A (p.Arg1007Gln) rs148203818 0.00001
NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=) rs779686052 0.00001
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) rs781056926 0.00001
NM_015443.4(KANSL1):c.3091-5_3091-2dup rs760084513 0.00001
NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val) rs1194713411 0.00001
NM_015443.4(KANSL1):c.3139C>G (p.Gln1047Glu) rs770548045 0.00001
NM_015443.4(KANSL1):c.3143C>T (p.Ala1048Val) rs200719065 0.00001
NM_015443.4(KANSL1):c.3154G>A (p.Asp1052Asn) rs1037675968 0.00001
NM_015443.4(KANSL1):c.3167C>T (p.Ala1056Val) rs1363712616 0.00001
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala) rs371450753 0.00001
NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln) rs780165589 0.00001
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys) rs1259929847 0.00001
NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp) rs1380751165 0.00001
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln) rs763541067 0.00001
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val) rs760256746 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser) rs199769766 0.00001
NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp) rs922454072 0.00001
NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly) rs529738082 0.00001
NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys) rs1372183525 0.00001
NM_015443.4(KANSL1):c.33A>G (p.Ala11=) rs769676607 0.00001
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys) rs781582912 0.00001
NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr) rs528026295 0.00001
NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707 0.00001
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226 0.00001
NM_015443.4(KANSL1):c.406G>C (p.Glu136Gln) rs2046302554 0.00001
NM_015443.4(KANSL1):c.418A>C (p.Thr140Pro) rs2046302196 0.00001
NM_015443.4(KANSL1):c.454G>A (p.Ala152Thr) rs538005482 0.00001
NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala) rs778413024 0.00001
NM_015443.4(KANSL1):c.500A>G (p.His167Arg) rs779594202 0.00001
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln) rs771481251 0.00001
NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871 0.00001
NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp) rs2046318820 0.00001
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val) rs759522694 0.00001
NM_015443.4(KANSL1):c.623G>A (p.Cys208Tyr) rs762448559 0.00001
NM_015443.4(KANSL1):c.625A>G (p.Thr209Ala) rs1301400639 0.00001
NM_015443.4(KANSL1):c.641G>A (p.Ser214Asn) rs746645554 0.00001
NM_015443.4(KANSL1):c.652G>C (p.Glu218Gln) rs1268624539 0.00001
NM_015443.4(KANSL1):c.665T>C (p.Leu222Ser) rs1297046144 0.00001
NM_015443.4(KANSL1):c.682A>T (p.Thr228Ser) rs762022186 0.00001
NM_015443.4(KANSL1):c.709A>G (p.Met237Val) rs778942078 0.00001
NM_015443.4(KANSL1):c.721G>A (p.Ala241Thr) rs2545084589 0.00001
NM_015443.4(KANSL1):c.754A>G (p.Thr252Ala) rs368487719 0.00001
NM_015443.4(KANSL1):c.798A>G (p.Lys266=) rs765667414 0.00001
NM_015443.4(KANSL1):c.802T>C (p.Ser268Pro) rs767021119 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015443.4(KANSL1):c.817A>G (p.Ile273Val) rs769802260 0.00001
NM_015443.4(KANSL1):c.82A>G (p.Thr28Ala) rs765632680 0.00001
NM_015443.4(KANSL1):c.844A>C (p.Thr282Pro) rs1371045758 0.00001
NM_015443.4(KANSL1):c.853A>G (p.Thr285Ala) rs925132857 0.00001
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr) rs747048362 0.00001
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn) rs1435339492 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.907A>G (p.Lys303Glu) rs1263813959 0.00001
NM_015443.4(KANSL1):c.92C>T (p.Pro31Leu) rs754355381 0.00001
NM_015443.4(KANSL1):c.951A>G (p.Ile317Met) rs776437091 0.00001
NM_015443.4(KANSL1):c.986T>C (p.Leu329Ser) rs1250183733 0.00001
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.10:g.(?_44108822)_(44159928_?)dup
NC_000017.10:g.(?_44143883)_(44159928_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NM_015443.4(KANSL1):c.*1103dup rs142756815
NM_015443.4(KANSL1):c.*1234_*1235dup rs140510364
NM_015443.4(KANSL1):c.*1354dup rs67641084
NM_015443.4(KANSL1):c.*1520dup rs67801660
NM_015443.4(KANSL1):c.*1551del rs767830420
NM_015443.4(KANSL1):c.*28ACTA[1] rs767896466
NM_015443.4(KANSL1):c.-13C>T
NM_015443.4(KANSL1):c.-17del
NM_015443.4(KANSL1):c.-23_-2del rs2147753838
NM_015443.4(KANSL1):c.-90+19C>G rs1057516026
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_015443.4(KANSL1):c.1002C>G (p.Asn334Lys) rs1272158850
NM_015443.4(KANSL1):c.1004T>G (p.Leu335Trp) rs1344231808
NM_015443.4(KANSL1):c.1036C>A (p.Leu346Met) rs1047432968
NM_015443.4(KANSL1):c.1046del (p.Lys349fs) rs1567761585
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser) rs1466777621
NM_015443.4(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly) rs1309097254
NM_015443.4(KANSL1):c.1104C>G (p.Ser368Arg) rs746438012
NM_015443.4(KANSL1):c.1107C>A (p.Asn369Lys) rs2147733228
NM_015443.4(KANSL1):c.1111C>G (p.Leu371Val) rs943298404
NM_015443.4(KANSL1):c.1114A>G (p.Lys372Glu) rs2147733057
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.1153G>A (p.Ala385Thr)
NM_015443.4(KANSL1):c.1154C>T (p.Ala385Val) rs913316099
NM_015443.4(KANSL1):c.1156A>G (p.Ser386Gly)
NM_015443.4(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_015443.4(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_015443.4(KANSL1):c.1180A>C (p.Ser394Arg) rs751709708
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_015443.4(KANSL1):c.1187A>G (p.Gln396Arg)
NM_015443.4(KANSL1):c.124A>G (p.Ile42Val)
NM_015443.4(KANSL1):c.1250A>G (p.Glu417Gly) rs2046249754
NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser) rs1597870423
NM_015443.4(KANSL1):c.1258A>G (p.Arg420Gly) rs2147730677
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg) rs2147730177
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu) rs1166960320
NM_015443.4(KANSL1):c.1281T>G (p.His427Gln)
NM_015443.4(KANSL1):c.1289+1G>C
NM_015443.4(KANSL1):c.1289+3G>A rs2046246397
NM_015443.4(KANSL1):c.1289+3_1289+5del rs1597870189
NM_015443.4(KANSL1):c.1289+8G>C rs767152233
NM_015443.4(KANSL1):c.1289T>A (p.Leu430Gln)
NM_015443.4(KANSL1):c.1290-3dup rs1459158836
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp) rs2146948079
NM_015443.4(KANSL1):c.1325G>A (p.Arg442Gln)
NM_015443.4(KANSL1):c.1325G>T (p.Arg442Leu)
NM_015443.4(KANSL1):c.1327_1328insATTC (p.Ala443fs) rs2146947656
NM_015443.4(KANSL1):c.1334T>G (p.Ile445Ser)
NM_015443.4(KANSL1):c.1342C>T (p.Arg448Cys) rs2146947447
NM_015443.4(KANSL1):c.1350C>G (p.Asn450Lys) rs2041984144
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.1417A>G (p.Ile473Val)
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly) rs1018963624
NM_015443.4(KANSL1):c.1450G>A (p.Glu484Lys) rs1173584837
NM_015443.4(KANSL1):c.1456C>G (p.Pro486Ala)
NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu) rs914530267
NM_015443.4(KANSL1):c.1462C>G (p.Pro488Ala)
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu) rs990019429
NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys) rs2544353406
NM_015443.4(KANSL1):c.1483T>G (p.Phe495Val)
NM_015443.4(KANSL1):c.149A>G (p.Lys50Arg) rs2545094588
NM_015443.4(KANSL1):c.1516C>G (p.His506Asp)
NM_015443.4(KANSL1):c.1522A>G (p.Thr508Ala)
NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly) rs2146826344
NM_015443.4(KANSL1):c.1533+3A>G rs1944843364
NM_015443.4(KANSL1):c.1533+7A>G rs2079019657
NM_015443.4(KANSL1):c.1546T>A (p.Ser516Thr) rs2510765094
NM_015443.4(KANSL1):c.1563C>G (p.Asn521Lys) rs886043787
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
NM_015443.4(KANSL1):c.157G>A (p.Ala53Thr)
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.1600C>G (p.Leu534Val) rs1385195592
NM_015443.4(KANSL1):c.1603T>C (p.Ser535Pro) rs763041904
NM_015443.4(KANSL1):c.1604C>G (p.Ser535Cys)
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_015443.4(KANSL1):c.1622C>A (p.Ala541Glu) rs1459925218
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp) rs1555746270
NM_015443.4(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_015443.4(KANSL1):c.1652C>G (p.Thr551Ser) rs778178483
NM_015443.4(KANSL1):c.1653-3T>G rs2146659159
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr) rs756625356
NM_015443.4(KANSL1):c.1691G>C (p.Ser564Thr)
NM_015443.4(KANSL1):c.1702G>C (p.Glu568Gln)
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_015443.4(KANSL1):c.1727G>T (p.Arg576Leu) rs2510758027
NM_015443.4(KANSL1):c.172G>A (p.Asp58Asn) rs1412208533
NM_015443.4(KANSL1):c.1738G>T (p.Val580Phe) rs117412152
NM_015443.4(KANSL1):c.1753G>C (p.Asp585His) rs1430848219
NM_015443.4(KANSL1):c.1756G>A (p.Gly586Ser) rs2510757737
NM_015443.4(KANSL1):c.1760C>A (p.Thr587Asn) rs2078387746
NM_015443.4(KANSL1):c.1760C>T (p.Thr587Ile)
NM_015443.4(KANSL1):c.1762T>C (p.Cys588Arg)
NM_015443.4(KANSL1):c.1763G>A (p.Cys588Tyr)
NM_015443.4(KANSL1):c.1765G>T (p.Val589Leu) rs1357621164
NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr) rs761905806
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) rs2510757518
NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_015443.4(KANSL1):c.1796G>A (p.Cys599Tyr) rs780639063
NM_015443.4(KANSL1):c.1798A>G (p.Lys600Glu)
NM_015443.4(KANSL1):c.1799A>G (p.Lys600Arg) rs770594188
NM_015443.4(KANSL1):c.1805G>A (p.Arg602Gln)
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1832T>C (p.Val611Ala) rs2510756848
NM_015443.4(KANSL1):c.1834C>T (p.Pro612Ser) rs2510756824
NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val) rs776773635
NM_015443.4(KANSL1):c.1843A>C (p.Lys615Gln)
NM_015443.4(KANSL1):c.1847A>T (p.Lys616Met)
NM_015443.4(KANSL1):c.1848+6T>C rs2510756695
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser) rs567178302
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter) rs762509401
NM_015443.4(KANSL1):c.1910G>A (p.Gly637Asp)
NM_015443.4(KANSL1):c.1930A>C (p.Met644Leu) rs752955067
NM_015443.4(KANSL1):c.1933C>A (p.Pro645Thr) rs2510650045
NM_015443.4(KANSL1):c.1936C>T (p.Pro646Ser)
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu) rs796052585
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys) rs777228945
NM_015443.4(KANSL1):c.1957C>T (p.Pro653Ser)
NM_015443.4(KANSL1):c.1984G>T (p.Asp662Tyr)
NM_015443.4(KANSL1):c.1986C>G (p.Asp662Glu) rs2146484644
NM_015443.4(KANSL1):c.1990T>C (p.Cys664Arg) rs2146484524
NM_015443.4(KANSL1):c.19G>C (p.Ala7Pro)
NM_015443.4(KANSL1):c.2002G>T (p.Val668Phe)
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala) rs1446402549
NM_015443.4(KANSL1):c.2015C>A (p.Pro672Gln)
NM_015443.4(KANSL1):c.2018A>G (p.Asp673Gly) rs2510648449
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala) rs2046311790
NM_015443.4(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_015443.4(KANSL1):c.2034C>G (p.Ser678Arg) rs1294628678
NM_015443.4(KANSL1):c.2038C>T (p.His680Tyr)
NM_015443.4(KANSL1):c.203C>T (p.Thr68Ile)
NM_015443.4(KANSL1):c.2053C>A (p.Leu685Met)
NM_015443.4(KANSL1):c.2073C>G (p.Asn691Lys)
NM_015443.4(KANSL1):c.2089_2094del (p.Ile697_Lys698del)
NM_015443.4(KANSL1):c.2093A>G (p.Lys698Arg) rs2077260533
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser) rs1227525369
NM_015443.4(KANSL1):c.2102A>G (p.Lys701Arg)
NM_015443.4(KANSL1):c.2109A>T (p.Leu703Phe) rs34101027
NM_015443.4(KANSL1):c.2122A>G (p.Arg708Gly) rs2510500292
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly) rs2077259076
NM_015443.4(KANSL1):c.2131A>G (p.Met711Val) rs2510499788
NM_015443.4(KANSL1):c.2146C>A (p.Pro716Thr) rs2510499373
NM_015443.4(KANSL1):c.2150A>G (p.Asp717Gly) rs2146369181
NM_015443.4(KANSL1):c.2161A>G (p.Lys721Glu) rs2146368894
NM_015443.4(KANSL1):c.2170C>A (p.His724Asn)
NM_015443.4(KANSL1):c.2170C>T (p.His724Tyr) rs2510498839
NM_015443.4(KANSL1):c.2179G>A (p.Val727Ile) rs2510498565
NM_015443.4(KANSL1):c.2194ACA[1] (p.Thr733del)
NM_015443.4(KANSL1):c.2197A>G (p.Thr733Ala) rs80026189
NM_015443.4(KANSL1):c.2204-4T>A
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val) rs1568374912
NM_015443.4(KANSL1):c.2220A>G (p.Gln740=) rs1339429545
NM_015443.4(KANSL1):c.2225G>C (p.Arg742Pro) rs752047149
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.2236A>T (p.Thr746Ser) rs2510484649
NM_015443.4(KANSL1):c.2242A>G (p.Arg748Gly) rs2510484389
NM_015443.4(KANSL1):c.2251T>G (p.Leu751Val) rs2510484083
NM_015443.4(KANSL1):c.2284C>G (p.Arg762Gly) rs2146363405
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met) rs781594360
NM_015443.4(KANSL1):c.2288T>C (p.Val763Ala)
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser) rs2077235740
NM_015443.4(KANSL1):c.2323C>T (p.Pro775Ser) rs2510481882
NM_015443.4(KANSL1):c.2330C>A (p.Pro777His)
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu) rs904766735
NM_015443.4(KANSL1):c.2344A>C (p.Asn782His) rs761656788
NM_015443.4(KANSL1):c.2344A>T (p.Asn782Tyr)
NM_015443.4(KANSL1):c.2366G>A (p.Arg789Gln) rs2146362190
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr) rs2077233312
NM_015443.4(KANSL1):c.2392_2392+1dup rs2510479806
NM_015443.4(KANSL1):c.2393-5T>C
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr) rs1317184946
NM_015443.4(KANSL1):c.2423C>T (p.Ser808Leu) rs372105810
NM_015443.4(KANSL1):c.2446C>T (p.His816Tyr) rs1385276351
NM_015443.4(KANSL1):c.2447A>G (p.His816Arg) rs2077222127
NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg) rs200086055
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp) rs758071565
NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly) rs1355589929
NM_015443.4(KANSL1):c.2462C>T (p.Pro821Leu) rs1411153399
NM_015443.4(KANSL1):c.2467G>A (p.Val823Met)
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter) rs779137465
NM_015443.4(KANSL1):c.2471G>A (p.Arg824Gln)
NM_015443.4(KANSL1):c.2476C>G (p.Leu826Val) rs2510471721
NM_015443.4(KANSL1):c.2483C>T (p.Thr828Ile) rs2077220546
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del) rs1568373517
NM_015443.4(KANSL1):c.2495C>A (p.Ser832Tyr) rs774750158
NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser) rs2146357893
NM_015443.4(KANSL1):c.249_250del (p.Cys84fs)
NM_015443.4(KANSL1):c.2500G>A (p.Ala834Thr)
NM_015443.4(KANSL1):c.2500G>C (p.Ala834Pro)
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile) rs770500282
NM_015443.4(KANSL1):c.2514_2519dup (p.Ser840_Gln841insSerSer) rs2510470487
NM_015443.4(KANSL1):c.2523G>C (p.Gln841His) rs2077218805
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_015443.4(KANSL1):c.2533A>G (p.Ser845Gly)
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn) rs796052597
NM_015443.4(KANSL1):c.2541G>C (p.Ser847=) rs200079722
NM_015443.4(KANSL1):c.2542-3C>G
NM_015443.4(KANSL1):c.2542-3C>T rs2510407804
NM_015443.4(KANSL1):c.2552T>G (p.Val851Gly)
NM_015443.4(KANSL1):c.2563A>G (p.Arg855Gly)
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys) rs2146325036
NM_015443.4(KANSL1):c.2570A>G (p.Glu857Gly)
NM_015443.4(KANSL1):c.2579_2580delinsGC (p.Phe860Cys) rs2510407066
NM_015443.4(KANSL1):c.2581G>T (p.Asp861Tyr)
NM_015443.4(KANSL1):c.2591A>G (p.Asn864Ser) rs2510406895
NM_015443.4(KANSL1):c.2611G>A (p.Val871Ile) rs2510406424
NM_015443.4(KANSL1):c.2620A>G (p.Thr874Ala) rs2510406242
NM_015443.4(KANSL1):c.2627G>A (p.Arg876His)
NM_015443.4(KANSL1):c.2648A>G (p.Lys883Arg) rs2510405581
NM_015443.4(KANSL1):c.2666+3A>G rs2146324420
NM_015443.4(KANSL1):c.2667-3C>T rs766948021
NM_015443.4(KANSL1):c.2667-4dup rs2077067052
NM_015443.4(KANSL1):c.2672G>A (p.Arg891Gln)
NM_015443.4(KANSL1):c.2680G>A (p.Asp894Asn) rs2510394212
NM_015443.4(KANSL1):c.2681A>C (p.Asp894Ala)
NM_015443.4(KANSL1):c.268G>C (p.Val90Leu)
NM_015443.4(KANSL1):c.2705C>G (p.Pro902Arg) rs2510393528
NM_015443.4(KANSL1):c.271C>T (p.Pro91Ser) rs781684444
NM_015443.4(KANSL1):c.2720A>T (p.Glu907Val) rs2146318320
NM_015443.4(KANSL1):c.2722G>A (p.Glu908Lys) rs2146318272
NM_015443.4(KANSL1):c.2724+3A>G
NM_015443.4(KANSL1):c.2724+5T>G rs1327945886
NM_015443.4(KANSL1):c.2747C>A (p.Ala916Asp)
NM_015443.4(KANSL1):c.2749T>G (p.Phe917Val) rs1222748159
NM_015443.4(KANSL1):c.2752G>A (p.Ala918Thr) rs752325882
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser) rs752325882
NM_015443.4(KANSL1):c.2752GCC[3] (p.Ala919_Leu920insAla) rs2510387645
NM_015443.4(KANSL1):c.2762A>G (p.His921Arg) rs1555731275
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu) rs752219095
NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys) rs2077056067
NM_015443.4(KANSL1):c.2810G>A (p.Ser937Asn)
NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu) rs2510386888
NM_015443.4(KANSL1):c.2818C>G (p.Pro940Ala)
NM_015443.4(KANSL1):c.2824C>T (p.Arg942Trp)
NM_015443.4(KANSL1):c.2824CGG[1] (p.Arg943del)
NM_015443.4(KANSL1):c.2825G>A (p.Arg942Gln) rs2146314710
NM_015443.4(KANSL1):c.2838-12C>T
NM_015443.4(KANSL1):c.2838-3C>T rs2510373950
NM_015443.4(KANSL1):c.2849C>T (p.Ser950Leu)
NM_015443.4(KANSL1):c.2856C>A (p.Asp952Glu) rs1431158114
NM_015443.4(KANSL1):c.2857G>A (p.Gly953Ser) rs2510373170
NM_015443.4(KANSL1):c.2858G>A (p.Gly953Asp)
NM_015443.4(KANSL1):c.2872C>G (p.Gln958Glu) rs147378906
NM_015443.4(KANSL1):c.2874G>C (p.Gln958His)
NM_015443.4(KANSL1):c.2876T>C (p.Leu959Pro)
NM_015443.4(KANSL1):c.2889C>G (p.Asn963Lys) rs1322313910
NM_015443.4(KANSL1):c.2894C>G (p.Ser965Cys) rs2510371664
NM_015443.4(KANSL1):c.2900C>T (p.Pro967Leu) rs770177501
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg) rs2077030679
NM_015443.4(KANSL1):c.290A>G (p.Lys97Arg)
NM_015443.4(KANSL1):c.2924G>A (p.Ser975Asn)
NM_015443.4(KANSL1):c.2940G>C (p.Leu980Phe) rs2077029420
NM_015443.4(KANSL1):c.2951C>T (p.Ser984Phe)
NM_015443.4(KANSL1):c.2956G>A (p.Gly986Ser) rs2146306880
NM_015443.4(KANSL1):c.2957G>C (p.Gly986Ala) rs905710793
NM_015443.4(KANSL1):c.295C>G (p.Gln99Glu)
NM_015443.4(KANSL1):c.2965C>A (p.Pro989Thr)
NM_015443.4(KANSL1):c.2968A>G (p.Arg990Gly)
NM_015443.4(KANSL1):c.2980A>G (p.Ser994Gly) rs2510368799
NM_015443.4(KANSL1):c.2993A>G (p.His998Arg) rs2510368504
NM_015443.4(KANSL1):c.2998G>A (p.Ala1000Thr) rs2510368396
NM_015443.4(KANSL1):c.3004C>T (p.Leu1002Phe) rs2077027513
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs) rs2146306274
NM_015443.4(KANSL1):c.3013G>A (p.Val1005Met)
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile) rs760506954
NM_015443.4(KANSL1):c.3028C>G (p.Pro1010Ala) rs143018360
NM_015443.4(KANSL1):c.3032G>A (p.Arg1011Gln)
NM_015443.4(KANSL1):c.3050A>C (p.Asp1017Ala) rs1568365844
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_015443.4(KANSL1):c.3079C>A (p.Leu1027Met) rs1202646378
NM_015443.4(KANSL1):c.3090+19G>A
NM_015443.4(KANSL1):c.309C>G (p.Ser103Arg)
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys) rs2146302096
NM_015443.4(KANSL1):c.3131A>G (p.His1044Arg)
NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His) rs796052589
NM_015443.4(KANSL1):c.3146A>T (p.Glu1049Val) rs771796347
NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg) rs796052590
NM_015443.4(KANSL1):c.3155A>T (p.Asp1052Val) rs2510354925
NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg) rs1057523651
NM_015443.4(KANSL1):c.315G>T (p.Gln105His) rs761904417
NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly) rs2510354680
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu) rs2510354389
NM_015443.4(KANSL1):c.3172G>T (p.Glu1058Ter) rs2510354236
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly) rs2077009798
NM_015443.4(KANSL1):c.3181G>A (p.Ala1061Thr)
NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys) rs2077009434
NM_015443.4(KANSL1):c.3190A>C (p.Thr1064Pro)
NM_015443.4(KANSL1):c.3193C>G (p.Arg1065Gly) rs2146300587
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter) rs2146300587
NM_015443.4(KANSL1):c.31G>T (p.Ala11Ser)
NM_015443.4(KANSL1):c.3230_3231del (p.Glu1077fs)
NM_015443.4(KANSL1):c.3234dup (p.Ala1079fs)
NM_015443.4(KANSL1):c.3242C>G (p.Thr1081Ser) rs2146299866
NM_015443.4(KANSL1):c.3259C>G (p.Pro1087Ala) rs1353327053
NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe) rs1276705475
NM_015443.4(KANSL1):c.3284C>T (p.Ala1095Val)
NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val) rs529738082
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro) rs560719955
NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val) rs2510348752
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu) rs796052598
NM_015443.4(KANSL1):c.3298C>T (p.Gln1100Ter)
NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs) rs2510348529
NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln) rs542543248
NM_015443.4(KANSL1):c.3311dup (p.His1104fs)
NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln) rs1241193511
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) rs761370843
NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly) rs2510347978
NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys) rs2545091876
NM_015443.4(KANSL1):c.348G>C (p.Gln116His) rs746180917
NM_015443.4(KANSL1):c.361C>G (p.Arg121Gly) rs868719408
NM_015443.4(KANSL1):c.361C>T (p.Arg121Ter)
NM_015443.4(KANSL1):c.385C>T (p.Pro129Ser) rs2147748223
NM_015443.4(KANSL1):c.388G>A (p.Val130Ile) rs766000368
NM_015443.4(KANSL1):c.400T>G (p.Ser134Ala)
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr) rs886053070
NM_015443.4(KANSL1):c.43G>C (p.Ala15Pro) rs1395709730
NM_015443.4(KANSL1):c.440C>T (p.Thr147Ile)
NM_015443.4(KANSL1):c.445C>G (p.Leu149Val)
NM_015443.4(KANSL1):c.448C>A (p.Pro150Thr)
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val) rs2046319479
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val) rs775582928
NM_015443.4(KANSL1):c.467G>A (p.Gly156Glu)
NM_015443.4(KANSL1):c.473C>T (p.Ala158Val)
NM_015443.4(KANSL1):c.491G>A (p.Ser164Asn)
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer) rs2046298627
NM_015443.4(KANSL1):c.500A>C (p.His167Pro) rs779594202
NM_015443.4(KANSL1):c.509A>G (p.His170Arg) rs1038293188
NM_015443.4(KANSL1):c.515A>T (p.Asn172Ile) rs942182430
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile) rs2046297678
NM_015443.4(KANSL1):c.523T>C (p.Ser175Pro) rs757028302
NM_015443.4(KANSL1):c.526C>T (p.Leu176Phe) rs2046296742
NM_015443.4(KANSL1):c.529A>G (p.Asn177Asp) rs1487207508
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs) rs1567763809
NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu) rs2046295807
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_015443.4(KANSL1):c.562C>T (p.Leu188Phe)
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp) rs2046293564
NM_015443.4(KANSL1):c.577A>G (p.Met193Val) rs2147744657
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr) rs2147744627
NM_015443.4(KANSL1):c.584G>A (p.Gly195Glu) rs757048501
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.608G>C (p.Gly203Ala) rs759522694
NM_015443.4(KANSL1):c.611G>A (p.Gly204Asp)
NM_015443.4(KANSL1):c.613A>T (p.Met205Leu) rs1236541973
NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser) rs761141661
NM_015443.4(KANSL1):c.617C>T (p.Thr206Ile) rs761141661
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala) rs745305837
NM_015443.4(KANSL1):c.631C>T (p.Pro211Ser)
NM_015443.4(KANSL1):c.635A>C (p.His212Pro) rs141110759
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val) rs2046288156
NM_015443.4(KANSL1):c.658A>C (p.Thr220Pro) rs2046287355
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser) rs2046287355
NM_015443.4(KANSL1):c.661A>G (p.Thr221Ala)
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser) rs1428454868
NM_015443.4(KANSL1):c.680G>T (p.Ser227Ile) rs150345690
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr) rs770400570
NM_015443.4(KANSL1):c.696_698del (p.Ser233del)
NM_015443.4(KANSL1):c.700G>C (p.Val234Leu)
NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter) rs780346743
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) rs142096969
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala) rs778091394
NM_015443.4(KANSL1):c.740G>A (p.Arg247Lys) rs1265436458
NM_015443.4(KANSL1):c.741A>T (p.Arg247Ser) rs1881193
NM_015443.4(KANSL1):c.745T>A (p.Ser249Thr)
NM_015443.4(KANSL1):c.749C>G (p.Pro250Arg) rs2545084038
NM_015443.4(KANSL1):c.749C>T (p.Pro250Leu) rs2545084038
NM_015443.4(KANSL1):c.74C>T (p.Pro25Leu) rs2545095977
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe) rs2545083775
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn) rs769994474
NM_015443.4(KANSL1):c.764G>T (p.Ser255Ile) rs769994474
NM_015443.4(KANSL1):c.766T>C (p.Ser256Pro)
NM_015443.4(KANSL1):c.76T>A (p.Ser26Thr)
NM_015443.4(KANSL1):c.774G>C (p.Leu258Phe) rs202232945
NM_015443.4(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_015443.4(KANSL1):c.803C>G (p.Ser268Cys)
NM_015443.4(KANSL1):c.808_816del (p.Leu270_Ser272del) rs2046275378
NM_015443.4(KANSL1):c.812C>T (p.Ser271Phe) rs1597872380
NM_015443.4(KANSL1):c.820C>G (p.Leu274Val)
NM_015443.4(KANSL1):c.823T>C (p.Phe275Leu) rs1567762510
NM_015443.4(KANSL1):c.832T>G (p.Leu278Val) rs777914291
NM_015443.4(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_015443.4(KANSL1):c.879C>A (p.Asp293Glu)
NM_015443.4(KANSL1):c.893C>G (p.Ala298Gly) rs149363799
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
NM_015443.4(KANSL1):c.909G>A (p.Lys303=)
NM_015443.4(KANSL1):c.917A>G (p.Gln306Arg) rs2545081009
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile) rs1201773079
NM_015443.4(KANSL1):c.926A>G (p.Gln309Arg) rs2147737029
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305
NM_015443.4(KANSL1):c.937G>C (p.Val313Leu) rs1340481051
NM_015443.4(KANSL1):c.950T>C (p.Ile317Thr) rs2147736324
NM_015443.4(KANSL1):c.954A>T (p.Gln318His) rs773332161
NM_015443.4(KANSL1):c.964G>A (p.Gly322Ser)
NM_015443.4(KANSL1):c.977AGA[1] (p.Lys327del)
NM_015443.4(KANSL1):c.979A>T (p.Lys327Ter) rs2046265286
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.989G>A (p.Ser330Asn) rs2147735832

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