ClinVar Miner

List of variants in gene KANSL1 studied for Koolen-de Vries syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1048
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HGVS dbSNP gnomAD frequency
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.696C>T (p.Ser232=) rs1881194 0.14580
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14471
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=) rs17574604 0.14470
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.2136G>A (p.Pro712=) rs2277613 0.04041
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_015443.4(KANSL1):c.1289+18A>G rs150225895 0.00275
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00195
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.1574C>G (p.Pro525Arg) rs144838667 0.00108
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
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.800A>G (p.Lys267Arg) rs140181991 0.00080
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
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.1653-11C>T rs201471275 0.00035
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.2159G>A (p.Arg720His) rs148825937 0.00026
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.849G>A (p.Arg283=) rs754362361 0.00011
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.1189G>A (p.Ala397Thr) rs138565467 0.00009
NM_015443.4(KANSL1):c.1667T>G (p.Leu556Trp) rs200449833 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.1652+8T>G rs587771660 0.00008
NM_015443.4(KANSL1):c.2837+14C>T rs770089639 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.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.1653-6G>A rs369261388 0.00007
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050 0.00007
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 0.00007
NM_015443.4(KANSL1):c.3091-15C>A rs565665710 0.00007
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr) rs140089320 0.00007
NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp) rs372601814 0.00007
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.2128C>A (p.Pro710Thr) rs550137256 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.2538A>G (p.Thr846=) rs148718200 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 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.518C>T (p.Ser173Phe) rs750012482 0.00006
NM_015443.4(KANSL1):c.729A>G (p.Gln243=) rs775976415 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.1864A>G (p.Thr622Ala) rs567178302 0.00005
NM_015443.4(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483 0.00005
NM_015443.4(KANSL1):c.2190C>T (p.Phe730=) rs145434865 0.00005
NM_015443.4(KANSL1):c.531T>C (p.Asn177=) rs759846708 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.992A>G (p.Lys331Arg) rs570475423 0.00005
NM_015443.4(KANSL1):c.1092A>C (p.Ser364=) rs1383244175 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.1565A>G (p.His522Arg) rs587625643 0.00004
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile) rs202150313 0.00004
NM_015443.4(KANSL1):c.1848+3C>T rs763185589 0.00004
NM_015443.4(KANSL1):c.1848+4G>A rs766458949 0.00004
NM_015443.4(KANSL1):c.1870C>T (p.Arg624Cys) rs368180304 0.00004
NM_015443.4(KANSL1):c.2204-11C>A rs373489007 0.00004
NM_015443.4(KANSL1):c.2238C>T (p.Thr746=) rs753466273 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.2985G>A (p.Pro995=) rs371484505 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.541C>T (p.Arg181Trp) rs375225315 0.00004
NM_015443.4(KANSL1):c.779G>T (p.Gly260Val) rs758752787 0.00004
NM_015443.4(KANSL1):c.810G>A (p.Leu270=) rs762766030 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.1059C>A (p.Ala353=) rs761810633 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.1613C>T (p.Ser538Leu) rs142435060 0.00003
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=) rs150800846 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 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.2130C>T (p.Pro710=) rs190201507 0.00003
NM_015443.4(KANSL1):c.2424G>A (p.Ser808=) rs570967215 0.00003
NM_015443.4(KANSL1):c.2529A>T (p.Thr843=) rs747933631 0.00003
NM_015443.4(KANSL1):c.2640G>A (p.Leu880=) rs773932947 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.3038T>C (p.Leu1013Ser) rs138490347 0.00003
NM_015443.4(KANSL1):c.3082G>C (p.Asp1028His) rs765297359 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.387A>G (p.Pro129=) rs753493307 0.00003
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831 0.00003
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) rs767960522 0.00003
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro) rs747832991 0.00003
NM_015443.4(KANSL1):c.843C>T (p.Asp281=) rs753023870 0.00003
NM_015443.4(KANSL1):c.900A>G (p.Arg300=) rs1257335790 0.00003
NM_015443.4(KANSL1):c.963G>A (p.Leu321=) rs772111208 0.00003
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 0.00002
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=) rs374053775 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.1294C>T (p.Arg432Cys) rs755296202 0.00002
NM_015443.4(KANSL1):c.1461C>G (p.Pro487=) rs750652072 0.00002
NM_015443.4(KANSL1):c.1533+9A>G rs761638144 0.00002
NM_015443.4(KANSL1):c.1652+10A>C rs1163350467 0.00002
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val) rs767702173 0.00002
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=) rs148259171 0.00002
NM_015443.4(KANSL1):c.1902A>G (p.Ala634=) rs757691368 0.00002
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu) rs762407803 0.00002
NM_015443.4(KANSL1):c.2203+17C>T rs372797286 0.00002
NM_015443.4(KANSL1):c.2262G>A (p.Val754=) rs141092796 0.00002
NM_015443.4(KANSL1):c.228A>G (p.Gln76=) rs1018528687 0.00002
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=) rs139663254 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_015443.4(KANSL1):c.2463C>T (p.Pro821=) rs765044321 0.00002
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg) rs774020325 0.00002
NM_015443.4(KANSL1):c.2739C>T (p.Ser913=) rs755326320 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.3272G>A (p.Arg1091Gln) rs752029022 0.00002
NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu) rs542543248 0.00002
NM_015443.4(KANSL1):c.372G>A (p.Leu124=) rs778607325 0.00002
NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser) rs766543331 0.00002
NM_015443.4(KANSL1):c.720G>A (p.Pro240=) rs757669369 0.00002
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe) rs537773238 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.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser) rs200997135 0.00001
NM_015443.4(KANSL1):c.102C>T (p.Ala34=) rs763633500 0.00001
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) rs369793673 0.00001
NM_015443.4(KANSL1):c.1042C>G (p.Arg348Gly) rs1427624649 0.00001
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile) rs775962610 0.00001
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala) rs778528850 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.1295G>A (p.Arg432His) rs754111757 0.00001
NM_015443.4(KANSL1):c.1296C>T (p.Arg432=) rs1469183886 0.00001
NM_015443.4(KANSL1):c.1305A>G (p.Glu435=) rs532980212 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.141C>T (p.Asn47=) rs1403319543 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.1432-13C>T rs1280259254 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.1590T>A (p.Ile530=) rs151329554 0.00001
NM_015443.4(KANSL1):c.1593A>G (p.Ser531=) rs377097643 0.00001
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr) rs756625356 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.1779A>G (p.Thr593=) rs372072783 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.1882G>C (p.Asp628His) rs375256880 0.00001
NM_015443.4(KANSL1):c.18C>T (p.Pro6=) rs774056059 0.00001
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln) rs752415137 0.00001
NM_015443.4(KANSL1):c.1989T>C (p.Ser663=) rs368175458 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.2106G>C (p.Lys702Asn) rs371108710 0.00001
NM_015443.4(KANSL1):c.2112G>A (p.Ser704=) rs775144162 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.2203+18G>A rs764721407 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.2260G>A (p.Val754Met) rs773184800 0.00001
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu) rs761904173 0.00001
NM_015443.4(KANSL1):c.2268C>T (p.Ala756=) rs530885936 0.00001
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met) rs749337566 0.00001
NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys) rs778213372 0.00001
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His) rs144377285 0.00001
NM_015443.4(KANSL1):c.2362T>C (p.Leu788=) rs146821414 0.00001
NM_015443.4(KANSL1):c.2392+14C>T rs1360057282 0.00001
NM_015443.4(KANSL1):c.2393-17T>G rs765371986 0.00001
NM_015443.4(KANSL1):c.2417G>A (p.Ser806Asn) rs539976549 0.00001
NM_015443.4(KANSL1):c.2433G>A (p.Leu811=) rs2077222613 0.00001
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val) rs754877424 0.00001
NM_015443.4(KANSL1):c.2490A>G (p.Ser830=) rs200903355 0.00001
NM_015443.4(KANSL1):c.249C>T (p.Leu83=) rs768816086 0.00001
NM_015443.4(KANSL1):c.2505C>T (p.Pro835=) rs1037817208 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.2541G>A (p.Ser847=) rs200079722 0.00001
NM_015443.4(KANSL1):c.2547G>A (p.Gln849=) rs763362339 0.00001
NM_015443.4(KANSL1):c.2643A>G (p.Gln881=) rs749039030 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.2734C>T (p.Leu912=) rs775053273 0.00001
NM_015443.4(KANSL1):c.2736A>G (p.Leu912=) rs779145246 0.00001
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr) rs756685224 0.00001
NM_015443.4(KANSL1):c.2754C>T (p.Ala918=) rs138070874 0.00001
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu) rs752219095 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.2808G>A (p.Thr936=) rs372559911 0.00001
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu) rs774259324 0.00001
NM_015443.4(KANSL1):c.2838-9G>T rs190142867 0.00001
NM_015443.4(KANSL1):c.2856C>T (p.Asp952=) rs1431158114 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.2897C>T (p.Thr966Ile) rs763252158 0.00001
NM_015443.4(KANSL1):c.2900C>A (p.Pro967His) rs770177501 0.00001
NM_015443.4(KANSL1):c.2913C>A (p.Ser971=) rs781514778 0.00001
NM_015443.4(KANSL1):c.2984C>T (p.Pro995Leu) rs761819132 0.00001
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu) rs573432386 0.00001
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser) rs1286813277 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.3025A>C (p.Thr1009Pro) rs777045712 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.3090+10G>A rs1362252302 0.00001
NM_015443.4(KANSL1):c.3090+9C>T rs201117362 0.00001
NM_015443.4(KANSL1):c.3091-5_3091-2dup rs760084513 0.00001
NM_015443.4(KANSL1):c.3094G>C (p.Val1032Leu) rs767917046 0.00001
NM_015443.4(KANSL1):c.3110G>A (p.Arg1037Gln) rs762427291 0.00001
NM_015443.4(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074 0.00001
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=) rs960036500 0.00001
NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val) rs1194713411 0.00001
NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=) rs140670092 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.3196C>T (p.Arg1066Cys) rs1259929847 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.3245C>T (p.Ser1082Leu) rs749241540 0.00001
NM_015443.4(KANSL1):c.3246G>A (p.Ser1082=) rs779999524 0.00001
NM_015443.4(KANSL1):c.324T>C (p.Leu108=) rs1041479241 0.00001
NM_015443.4(KANSL1):c.3258C>T (p.Val1086=) rs750644383 0.00001
NM_015443.4(KANSL1):c.3275A>G (p.His1092Arg) rs963795454 0.00001
NM_015443.4(KANSL1):c.3279G>T (p.Leu1093=) rs1404523701 0.00001
NM_015443.4(KANSL1):c.3292A>G (p.Thr1098Ala) rs1470593799 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.362G>A (p.Arg121Gln) rs747500833 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.455C>T (p.Ala152Val) rs775582928 0.00001
NM_015443.4(KANSL1):c.481T>C (p.Leu161=) rs777106355 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.555A>C (p.Ser185=) rs199498626 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.702C>A (p.Val234=) rs1057521846 0.00001
NM_015443.4(KANSL1):c.709A>G (p.Met237Val) rs778942078 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.754A>G (p.Thr252Ala) rs368487719 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.837T>C (p.Asp279=) rs758771116 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.865C>T (p.Arg289Trp) rs373759089 0.00001
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr) rs747048362 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.910C>T (p.Arg304Cys) rs756749550 0.00001
NM_015443.4(KANSL1):c.912C>T (p.Arg304=) rs1175646397 0.00001
NM_015443.4(KANSL1):c.913T>C (p.Leu305=) rs751030588 0.00001
NM_015443.4(KANSL1):c.92C>T (p.Pro31Leu) rs754355381 0.00001
NM_015443.4(KANSL1):c.930C>G (p.Ala310=) rs763673329 0.00001
NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp) rs765182404 0.00001
NM_015443.4(KANSL1):c.951A>G (p.Ile317Met) rs776437091 0.00001
NM_015443.4(KANSL1):c.954A>G (p.Gln318=) rs773332161 0.00001
NM_015443.4(KANSL1):c.999A>G (p.Pro333=) rs768902865 0.00001
NM_015443.4(KANSL1):c.99T>C (p.Ser33=) rs766805510 0.00001
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.10:g.(?_44108822)_(44159928_?)dup
NC_000017.10:g.(?_44108842)_(44159928_?)del
NC_000017.10:g.(?_44108842)_(44159928_?)dup
NC_000017.10:g.(?_44143883)_(44159928_?)dup
NC_000017.10:g.(?_44159787)_(44159928_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NC_000017.11:g.(?_46031456)_(46082562_?)del
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.1020A>G (p.Pro340=) rs1374127270
NM_015443.4(KANSL1):c.1029G>A (p.Gln343=) rs1393967586
NM_015443.4(KANSL1):c.1030T>C (p.Leu344=) rs2147734860
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1046del (p.Lys349fs) rs1567761585
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser) rs1466777621
NM_015443.4(KANSL1):c.1074C>T (p.Ala358=) rs2147733945
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.1080G>A (p.Glu360=) rs1232525310
NM_015443.4(KANSL1):c.1083C>T (p.Thr361=) rs2147733729
NM_015443.4(KANSL1):c.1093G>A (p.Glu365Lys) rs2046257372
NM_015443.4(KANSL1):c.1095G>A (p.Glu365=) rs2147733459
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.110A>G (p.Asn37Ser) rs769773348
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.1145G>A (p.Arg382Lys) rs369920825
NM_015443.4(KANSL1):c.1152A>G (p.Thr384=) rs1597870803
NM_015443.4(KANSL1):c.1153G>A (p.Ala385Thr)
NM_015443.4(KANSL1):c.1154C>T (p.Ala385Val) rs913316099
NM_015443.4(KANSL1):c.1155T>G (p.Ala385=) rs1597870775
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.1213A>G (p.Ser405Gly)
NM_015443.4(KANSL1):c.1215_1218delinsGGACTG (p.Ser405fs)
NM_015443.4(KANSL1):c.1230G>A (p.Glu410=) rs777308407
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.1269C>G (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_015443.4(KANSL1):c.1280A>G (p.His427Arg) rs1166960320
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu) rs1166960320
NM_015443.4(KANSL1):c.1289+14A>G rs1189904152
NM_015443.4(KANSL1):c.1289+1G>C
NM_015443.4(KANSL1):c.1289+20G>T rs2147729504
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.1318G>A (p.Ala440Thr) rs1240185267
NM_015443.4(KANSL1):c.1325G>A (p.Arg442Gln)
NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro) rs1480307304
NM_015443.4(KANSL1):c.1326G>C (p.Arg442=) rs2146947680
NM_015443.4(KANSL1):c.1327_1328insATTC (p.Ala443fs) rs2146947656
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs) rs2146947627
NM_015443.4(KANSL1):c.1334T>G (p.Ile445Ser)
NM_015443.4(KANSL1):c.1342C>T (p.Arg448Cys) rs2146947447
NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter) rs2146947345
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.1374C>T (p.Asp458=) rs2146947181
NM_015443.4(KANSL1):c.1396C>T (p.Gln466Ter)
NM_015443.4(KANSL1):c.1404C>T (p.Asp468=) rs2041983367
NM_015443.4(KANSL1):c.1407T>C (p.Ile469=) rs2146946935
NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs) rs2146946828
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys) rs1018963624
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1432-11C>T
NM_015443.4(KANSL1):c.1432-14T>C
NM_015443.4(KANSL1):c.1432-19del
NM_015443.4(KANSL1):c.1432-4G>A rs749329088
NM_015443.4(KANSL1):c.1432-5T>G rs2146827907
NM_015443.4(KANSL1):c.1432-9A>G rs768885009
NM_015443.4(KANSL1):c.1434G>T (p.Gly478=) rs535131861
NM_015443.4(KANSL1):c.1450G>A (p.Glu484Lys) rs1173584837
NM_015443.4(KANSL1):c.1452G>A (p.Glu484=) rs2146827620
NM_015443.4(KANSL1):c.1454T>A (p.Val485Glu)
NM_015443.4(KANSL1):c.1455A>G (p.Val485=)
NM_015443.4(KANSL1):c.1456C>G (p.Pro486Ala)
NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu)
NM_015443.4(KANSL1):c.1460C>T (p.Pro487Leu)
NM_015443.4(KANSL1):c.1461C>T (p.Pro487=)
NM_015443.4(KANSL1):c.1462C>G (p.Pro488Ala)
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs) rs1555753569
NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys)
NM_015443.4(KANSL1):c.1480T>C (p.Leu494=)
NM_015443.4(KANSL1):c.1480T>G (p.Leu494Val)
NM_015443.4(KANSL1):c.1482A>G (p.Leu494=)
NM_015443.4(KANSL1):c.1483T>G (p.Phe495Val)
NM_015443.4(KANSL1):c.1485_1488del (p.Leu496fs)
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.1503G>A (p.Glu501=) rs2146826764
NM_015443.4(KANSL1):c.1512A>G (p.Thr504=) rs1483287405
NM_015443.4(KANSL1):c.1522A>G (p.Thr508Ala)
NM_015443.4(KANSL1):c.1524T>C (p.Thr508=)
NM_015443.4(KANSL1):c.1525G>A (p.Asp509Asn)
NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly) rs2146826344
NM_015443.4(KANSL1):c.1530A>G (p.Lys510=)
NM_015443.4(KANSL1):c.1531T>C (p.Leu511=)
NM_015443.4(KANSL1):c.1533+10A>G
NM_015443.4(KANSL1):c.1533+17G>C
NM_015443.4(KANSL1):c.1533+1G>A
NM_015443.4(KANSL1):c.1533+20A>G
NM_015443.4(KANSL1):c.1533+3A>G rs1944843364
NM_015443.4(KANSL1):c.1533+7A>G rs2079019657
NM_015443.4(KANSL1):c.1534-13T>C
NM_015443.4(KANSL1):c.1541C>T (p.Ser514Phe)
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu) rs2078430687
NM_015443.4(KANSL1):c.1546T>A (p.Ser516Thr)
NM_015443.4(KANSL1):c.1555T>C (p.Leu519=)
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
NM_015443.4(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_015443.4(KANSL1):c.1568G>T (p.Gly523Val)
NM_015443.4(KANSL1):c.1569T>G (p.Gly523=)
NM_015443.4(KANSL1):c.1574= (p.Pro525=)
NM_015443.4(KANSL1):c.1576ATT[1] (p.Ile527del) rs1418530749
NM_015443.4(KANSL1):c.1579A>G (p.Ile527Val)
NM_015443.4(KANSL1):c.157G>A (p.Ala53Thr)
NM_015443.4(KANSL1):c.1584T>C (p.Gly528=)
NM_015443.4(KANSL1):c.1599A>G (p.Ser533=) rs1555746340
NM_015443.4(KANSL1):c.159C>T (p.Ala53=) rs1350224468
NM_015443.4(KANSL1):c.15G>A (p.Ala5=) rs1464957820
NM_015443.4(KANSL1):c.1600C>G (p.Leu534Val) rs1385195592
NM_015443.4(KANSL1):c.1603T>C (p.Ser535Pro)
NM_015443.4(KANSL1):c.1604C>G (p.Ser535Cys)
NM_015443.4(KANSL1):c.1605T>C (p.Ser535=) rs200561483
NM_015443.4(KANSL1):c.1615T>C (p.Cys539Arg)
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_015443.4(KANSL1):c.1621G>A (p.Ala541Thr)
NM_015443.4(KANSL1):c.1622C>A (p.Ala541Glu)
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_015443.4(KANSL1):c.1629A>T (p.Arg543Ser)
NM_015443.4(KANSL1):c.1633G>A (p.Val545Ile) rs771191709
NM_015443.4(KANSL1):c.1637A>G (p.Asn546Ser)
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.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1652C>G (p.Thr551Ser) rs778178483
NM_015443.4(KANSL1):c.1653-10C>T
NM_015443.4(KANSL1):c.1653-12C>T
NM_015443.4(KANSL1):c.1653-19C>T
NM_015443.4(KANSL1):c.1653-3T>G rs2146659159
NM_015443.4(KANSL1):c.1653-4_1653del
NM_015443.4(KANSL1):c.1657_1658insTTGTAT (p.Gln553delinsLeuValTer) rs2146659025
NM_015443.4(KANSL1):c.1676A>G (p.His559Arg) rs886053069
NM_015443.4(KANSL1):c.168A>G (p.Ala56=) rs1567764859
NM_015443.4(KANSL1):c.1691G>C (p.Ser564Thr)
NM_015443.4(KANSL1):c.1697A>T (p.Asp566Val) rs2078390025
NM_015443.4(KANSL1):c.1700C>G (p.Ala567Gly)
NM_015443.4(KANSL1):c.1701T>C (p.Ala567=)
NM_015443.4(KANSL1):c.1702G>C (p.Glu568Gln)
NM_015443.4(KANSL1):c.1707A>G (p.Glu569=) rs2146658180
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_015443.4(KANSL1):c.1715A>G (p.His572Arg)
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter) rs2146658002
NM_015443.4(KANSL1):c.172G>A (p.Asp58Asn) rs1412208533
NM_015443.4(KANSL1):c.1738G>T (p.Val580Phe)
NM_015443.4(KANSL1):c.1753G>C (p.Asp585His)
NM_015443.4(KANSL1):c.1755T>C (p.Asp585=)
NM_015443.4(KANSL1):c.1756G>A (p.Gly586Ser)
NM_015443.4(KANSL1):c.1760C>A (p.Thr587Asn) rs2078387746
NM_015443.4(KANSL1):c.1760C>T (p.Thr587Ile)
NM_015443.4(KANSL1):c.1763G>A (p.Cys588Tyr)
NM_015443.4(KANSL1):c.1765G>T (p.Val589Leu)
NM_015443.4(KANSL1):c.1768G>T (p.Ala590Ser)
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg) rs2078387202
NM_015443.4(KANSL1):c.1770A>G (p.Ala590=)
NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr)
NM_015443.4(KANSL1):c.1773C>G (p.Ala591=)
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)
NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_015443.4(KANSL1):c.1782T>C (p.Arg594=)
NM_015443.4(KANSL1):c.1796G>A (p.Cys599Tyr)
NM_015443.4(KANSL1):c.1799A>G (p.Lys600Arg)
NM_015443.4(KANSL1):c.1805G>A (p.Arg602Gln)
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.1818A>G (p.Arg606=)
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1832T>C (p.Val611Ala)
NM_015443.4(KANSL1):c.1834C>T (p.Pro612Ser)
NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val)
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1843A>C (p.Lys615Gln)
NM_015443.4(KANSL1):c.1848+19T>C
NM_015443.4(KANSL1):c.1848+6T>C
NM_015443.4(KANSL1):c.1848+7A>G rs2146655978
NM_015443.4(KANSL1):c.1849-11T>A
NM_015443.4(KANSL1):c.1849-11T>C
NM_015443.4(KANSL1):c.1849-14G>A
NM_015443.4(KANSL1):c.1849-18_1849-16del rs2146486939
NM_015443.4(KANSL1):c.1849-26_1871del rs2146486142
NM_015443.4(KANSL1):c.1849-3C>T
NM_015443.4(KANSL1):c.1849-4661_1895del
NM_015443.4(KANSL1):c.1849-4A>G rs2146486779
NM_015443.4(KANSL1):c.1849-6T>A rs545230619
NM_015443.4(KANSL1):c.1857G>A (p.Arg619=)
NM_015443.4(KANSL1):c.1857G>C (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.1861A>G (p.Ser621Gly)
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser) rs567178302
NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs) rs281865472
NM_015443.4(KANSL1):c.1871G>A (p.Arg624His)
NM_015443.4(KANSL1):c.1887G>A (p.Val629=) rs2146485926
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser) rs752154509
NM_015443.4(KANSL1):c.190C>A (p.Arg64=) rs762509401
NM_015443.4(KANSL1):c.1910G>A (p.Gly637Asp)
NM_015443.4(KANSL1):c.1917C>G (p.Gly639=) rs2146485476
NM_015443.4(KANSL1):c.1921A>G (p.Ile641Val) rs2146485410
NM_015443.4(KANSL1):c.1930A>C (p.Met644Leu) rs752955067
NM_015443.4(KANSL1):c.1933C>A (p.Pro645Thr)
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu) rs796052585
NM_015443.4(KANSL1):c.1939G>A (p.Glu647Lys)
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys) rs777228945
NM_015443.4(KANSL1):c.1957C>G (p.Pro653Ala)
NM_015443.4(KANSL1):c.1958dup (p.Leu654fs)
NM_015443.4(KANSL1):c.1962G>A (p.Leu654=)
NM_015443.4(KANSL1):c.1970G>A (p.Arg657His) rs2077676783
NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg) rs761226381
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.1991G>T (p.Cys664Phe)
NM_015443.4(KANSL1):c.1993G>A (p.Val665Ile) rs1180495776
NM_015443.4(KANSL1):c.19G>C (p.Ala7Pro)
NM_015443.4(KANSL1):c.2002G>A (p.Val668Ile)
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.2016A>G (p.Pro672=)
NM_015443.4(KANSL1):c.2018A>G (p.Asp673Gly)
NM_015443.4(KANSL1):c.2020+17A>G
NM_015443.4(KANSL1):c.2020+18C>A
NM_015443.4(KANSL1):c.2020+1G>A
NM_015443.4(KANSL1):c.2021-20G>A
NM_015443.4(KANSL1):c.2021-3C>T rs2077262439
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)
NM_015443.4(KANSL1):c.2035C>T (p.Leu679=)
NM_015443.4(KANSL1):c.2038C>T (p.His680Tyr)
NM_015443.4(KANSL1):c.2040T>G (p.His680Gln)
NM_015443.4(KANSL1):c.2050A>G (p.Met684Val)
NM_015443.4(KANSL1):c.2058A>G (p.Lys686=) rs2146370677
NM_015443.4(KANSL1):c.2063_2064del (p.Gln688fs)
NM_015443.4(KANSL1):c.2078C>G (p.Pro693Arg) rs754207638
NM_015443.4(KANSL1):c.2089_2094del (p.Ile697_Lys698del)
NM_015443.4(KANSL1):c.2093A>G (p.Lys698Arg)
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser) rs1227525369
NM_015443.4(KANSL1):c.2100C>T (p.Pro700=)
NM_015443.4(KANSL1):c.2102A>G (p.Lys701Arg)
NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter)
NM_015443.4(KANSL1):c.2105del (p.Lys702fs) rs2146370110
NM_015443.4(KANSL1):c.2109A>T (p.Leu703Phe) rs34101027
NM_015443.4(KANSL1):c.2115T>G (p.Leu705=) rs769484238
NM_015443.4(KANSL1):c.2122A>G (p.Arg708Gly)
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly) rs2077259076
NM_015443.4(KANSL1):c.2127A>G (p.Ala709=)
NM_015443.4(KANSL1):c.2130del (p.Met711fs)
NM_015443.4(KANSL1):c.2131A>G (p.Met711Val)
NM_015443.4(KANSL1):c.2132dup (p.Met711fs) rs1555734136
NM_015443.4(KANSL1):c.2139C>A (p.Gly713=) rs1568375579
NM_015443.4(KANSL1):c.213C>T (p.Asp71=) rs1041951554
NM_015443.4(KANSL1):c.2145G>A (p.Leu715=)
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>T (p.His724Tyr)
NM_015443.4(KANSL1):c.2179G>A (p.Val727Ile)
NM_015443.4(KANSL1):c.2194ACA[1] (p.Thr733del)
NM_015443.4(KANSL1):c.2197A>G (p.Thr733Ala) rs80026189
NM_015443.4(KANSL1):c.2202C>G (p.Ala734=) rs1555734069
NM_015443.4(KANSL1):c.2203+12G>C
NM_015443.4(KANSL1):c.2203+7_2203+8del
NM_015443.4(KANSL1):c.2203+9C>T
NM_015443.4(KANSL1):c.2204-10C>T
NM_015443.4(KANSL1):c.2204-11C>T
NM_015443.4(KANSL1):c.2204-15T>C
NM_015443.4(KANSL1):c.2204-17dup
NM_015443.4(KANSL1):c.2204-4T>A
NM_015443.4(KANSL1):c.2204-8C>G
NM_015443.4(KANSL1):c.2204-8C>T rs2077241144
NM_015443.4(KANSL1):c.2205G>C (p.Lys735Asn) rs2146364480
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val) rs1568374912
NM_015443.4(KANSL1):c.2210C>T (p.Ser737Phe) rs2077240690
NM_015443.4(KANSL1):c.2220A>G (p.Gln740=)
NM_015443.4(KANSL1):c.2223C>A (p.Thr741=) rs781504422
NM_015443.4(KANSL1):c.2225G>C (p.Arg742Pro)
NM_015443.4(KANSL1):c.2232C>T (p.Asp744=)
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.2242A>G (p.Arg748Gly)
NM_015443.4(KANSL1):c.2251T>G (p.Leu751Val)
NM_015443.4(KANSL1):c.2255A>G (p.Asp752Gly) rs2077238889
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2265G>A (p.Gly755=) rs1291797978
NM_015443.4(KANSL1):c.2265G>T (p.Gly755=)
NM_015443.4(KANSL1):c.2271G>A (p.Val757=) rs1598456648
NM_015443.4(KANSL1):c.2275A>C (p.Met759Leu)
NM_015443.4(KANSL1):c.2280G>A (p.Val760=)
NM_015443.4(KANSL1):c.2284C>G (p.Arg762Gly)
NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter) rs2146363405
NM_015443.4(KANSL1):c.2285G>A (p.Arg762Gln) rs746084966
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met) rs781594360
NM_015443.4(KANSL1):c.2287G>T (p.Val763Leu) rs781594360
NM_015443.4(KANSL1):c.2288T>C (p.Val763Ala)
NM_015443.4(KANSL1):c.2295G>A (p.Ala765=)
NM_015443.4(KANSL1):c.2313G>A (p.Leu771=) rs2146363069
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser) rs2077235740
NM_015443.4(KANSL1):c.2321C>T (p.Pro774Leu)
NM_015443.4(KANSL1):c.2323C>T (p.Pro775Ser)
NM_015443.4(KANSL1):c.2330C>A (p.Pro777His)
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu) rs904766735
NM_015443.4(KANSL1):c.2332G>C (p.Val778Leu) rs1472029797
NM_015443.4(KANSL1):c.2342del (p.Pro781fs)
NM_015443.4(KANSL1):c.2344A>C (p.Asn782His)
NM_015443.4(KANSL1):c.2344A>T (p.Asn782Tyr)
NM_015443.4(KANSL1):c.2345del (p.Asn782fs)
NM_015443.4(KANSL1):c.2363T>G (p.Leu788Trp)
NM_015443.4(KANSL1):c.2364G>A (p.Leu788=)
NM_015443.4(KANSL1):c.2366G>A (p.Arg789Gln)
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr) rs2077233312
NM_015443.4(KANSL1):c.2379T>C (p.Ser793=)
NM_015443.4(KANSL1):c.2391A>C (p.Glu797Asp)
NM_015443.4(KANSL1):c.2392+12C>T rs2146361888
NM_015443.4(KANSL1):c.2392+15A>G rs769760161
NM_015443.4(KANSL1):c.2392+15A>T
NM_015443.4(KANSL1):c.2392+19C>T
NM_015443.4(KANSL1):c.2392+3A>T rs1568374384
NM_015443.4(KANSL1):c.2393-14G>C
NM_015443.4(KANSL1):c.2393-19T>C
NM_015443.4(KANSL1):c.2393-20T>A rs2077224569
NM_015443.4(KANSL1):c.2393-23_2393-20del
NM_015443.4(KANSL1):c.2393-25CT[2]
NM_015443.4(KANSL1):c.2393-4G>A
NM_015443.4(KANSL1):c.2393-9C>A rs1004017370
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.2444A>G (p.His815Arg) rs2077222371
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.2454A>G (p.Pro818=) rs2146358617
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp) rs758071565
NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)
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.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.2471G>A (p.Arg824Gln)
NM_015443.4(KANSL1):c.2476C>G (p.Leu826Val)
NM_015443.4(KANSL1):c.2478C>G (p.Leu826=)
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.2493T>G (p.Asp831Glu) rs1457193430
NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser) rs2146357893
NM_015443.4(KANSL1):c.249C>G (p.Leu83=) rs768816086
NM_015443.4(KANSL1):c.2500G>A (p.Ala834Thr)
NM_015443.4(KANSL1):c.2500G>C (p.Ala834Pro)
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.2504C>T (p.Pro835Leu)
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile) rs770500282
NM_015443.4(KANSL1):c.2514_2519dup (p.Ser840_Gln841insSerSer)
NM_015443.4(KANSL1):c.2523G>C (p.Gln841His)
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.2536A>G (p.Thr846Ala)
NM_015443.4(KANSL1):c.2537C>T (p.Thr846Ile)
NM_015443.4(KANSL1):c.2540C>T (p.Ser847Leu)
NM_015443.4(KANSL1):c.2541+11G>C
NM_015443.4(KANSL1):c.2541+18G>A rs12150090
NM_015443.4(KANSL1):c.2541+18G>C
NM_015443.4(KANSL1):c.2541G>C (p.Ser847=)
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_015443.4(KANSL1):c.2542-3C>T
NM_015443.4(KANSL1):c.2542-4A>G
NM_015443.4(KANSL1):c.2542-4dup
NM_015443.4(KANSL1):c.2542-8T>C
NM_015443.4(KANSL1):c.2552T>G (p.Val851Gly)
NM_015443.4(KANSL1):c.2554A>C (p.Arg852=) rs2146325132
NM_015443.4(KANSL1):c.2570A>G (p.Glu857Gly)
NM_015443.4(KANSL1):c.2579_2580delinsGC (p.Phe860Cys)
NM_015443.4(KANSL1):c.2591A>G (p.Asn864Ser)
NM_015443.4(KANSL1):c.2591del (p.Asn864fs) rs2077088526
NM_015443.4(KANSL1):c.2611G>A (p.Val871Ile)
NM_015443.4(KANSL1):c.2627G>A (p.Arg876His)
NM_015443.4(KANSL1):c.2628C>A (p.Arg876=)
NM_015443.4(KANSL1):c.2631A>G (p.Val877=)
NM_015443.4(KANSL1):c.2640G>T (p.Leu880=)
NM_015443.4(KANSL1):c.2648A>G (p.Lys883Arg)
NM_015443.4(KANSL1):c.2658T>G (p.Leu886=) rs2146324506
NM_015443.4(KANSL1):c.2660C>A (p.Thr887Lys)
NM_015443.4(KANSL1):c.2661G>A (p.Thr887=) rs769682055
NM_015443.4(KANSL1):c.2661G>T (p.Thr887=) rs769682055
NM_015443.4(KANSL1):c.2664del (p.Ser889fs)
NM_015443.4(KANSL1):c.2666+13A>T
NM_015443.4(KANSL1):c.2666+15T>G
NM_015443.4(KANSL1):c.2666+17G>A rs1244064287
NM_015443.4(KANSL1):c.2666+7G>A
NM_015443.4(KANSL1):c.2667-3C>T rs766948021
NM_015443.4(KANSL1):c.2673G>A (p.Arg891=) rs2146318945
NM_015443.4(KANSL1):c.2677G>T (p.Val893Phe)
NM_015443.4(KANSL1):c.2680G>A (p.Asp894Asn)
NM_015443.4(KANSL1):c.2681A>C (p.Asp894Ala)
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_015443.4(KANSL1):c.2691T>C (p.Ser897=)
NM_015443.4(KANSL1):c.2692C>T (p.Leu898=)
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) rs2077066093
NM_015443.4(KANSL1):c.2694G>A (p.Leu898=) rs2146318637
NM_015443.4(KANSL1):c.2695A>T (p.Lys899Ter)
NM_015443.4(KANSL1):c.2705C>G (p.Pro902Arg)
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
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+14T>G
NM_015443.4(KANSL1):c.2724+16T>G
NM_015443.4(KANSL1):c.2724+5T>G rs1327945886
NM_015443.4(KANSL1):c.2724+8C>T rs202001253
NM_015443.4(KANSL1):c.2725-15G>C
NM_015443.4(KANSL1):c.2725-15G>T
NM_015443.4(KANSL1):c.2725-9C>T
NM_015443.4(KANSL1):c.2733C>T (p.Asp911=)
NM_015443.4(KANSL1):c.2740G>A (p.Asp914Asn)
NM_015443.4(KANSL1):c.2747C>G (p.Ala916Gly)
NM_015443.4(KANSL1):c.2749T>G (p.Phe917Val)
NM_015443.4(KANSL1):c.2752G>A (p.Ala918Thr)
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser) rs752325882
NM_015443.4(KANSL1):c.2752GCC[3] (p.Ala919_Leu920insAla)
NM_015443.4(KANSL1):c.2772_2776del (p.Cys924_Glu926delinsTer)
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs) rs281865471
NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys)
NM_015443.4(KANSL1):c.2790A>G (p.Ala930=)
NM_015443.4(KANSL1):c.2797C>T (p.Leu933=)
NM_015443.4(KANSL1):c.2801G>A (p.Trp934Ter)
NM_015443.4(KANSL1):c.2810G>A (p.Ser937Asn)
NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu)
NM_015443.4(KANSL1):c.2821del (p.Gln941fs) rs2146314756
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.2828G>A (p.Arg943Gln)
NM_015443.4(KANSL1):c.2831dup (p.Ser945fs) rs2146314563
NM_015443.4(KANSL1):c.2837+20T>C
NM_015443.4(KANSL1):c.2837+2T>C rs975947508
NM_015443.4(KANSL1):c.2837+7G>T rs780476310
NM_015443.4(KANSL1):c.2838-12C>T
NM_015443.4(KANSL1):c.2838-18G>C
NM_015443.4(KANSL1):c.2838-3C>T
NM_015443.4(KANSL1):c.2838-6G>T rs1555730956
NM_015443.4(KANSL1):c.2838-8G>A rs1355646117
NM_015443.4(KANSL1):c.2838-8G>T rs1355646117
NM_015443.4(KANSL1):c.2841C>G (p.Ser947=)
NM_015443.4(KANSL1):c.2843A>G (p.Tyr948Cys)
NM_015443.4(KANSL1):c.2849C>T (p.Ser950Leu)
NM_015443.4(KANSL1):c.2850A>G (p.Ser950=)
NM_015443.4(KANSL1):c.2856C>A (p.Asp952Glu) rs1431158114
NM_015443.4(KANSL1):c.2858G>A (p.Gly953Asp)
NM_015443.4(KANSL1):c.2872C>G (p.Gln958Glu)
NM_015443.4(KANSL1):c.2874G>A (p.Gln958=) rs1010687863
NM_015443.4(KANSL1):c.2874G>C (p.Gln958His)
NM_015443.4(KANSL1):c.2876T>C (p.Leu959Pro)
NM_015443.4(KANSL1):c.2877G>T (p.Leu959=) rs2146308107
NM_015443.4(KANSL1):c.2889C>G (p.Asn963Lys)
NM_015443.4(KANSL1):c.2889C>T (p.Asn963=)
NM_015443.4(KANSL1):c.2890C>T (p.Pro964Ser)
NM_015443.4(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469
NM_015443.4(KANSL1):c.2894C>G (p.Ser965Cys)
NM_015443.4(KANSL1):c.2900C>T (p.Pro967Leu) rs770177501
NM_015443.4(KANSL1):c.2901C>A (p.Pro967=)
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) rs2077030838
NM_015443.4(KANSL1):c.290A>G (p.Lys97Arg)
NM_015443.4(KANSL1):c.2910C>G (p.Ala970=)
NM_015443.4(KANSL1):c.2916T>C (p.Pro972=)
NM_015443.4(KANSL1):c.2919T>C (p.Asp973=)
NM_015443.4(KANSL1):c.2922C>T (p.Val974=)
NM_015443.4(KANSL1):c.2925C>T (p.Ser975=)
NM_015443.4(KANSL1):c.2931C>T (p.Ser977=) rs2146307222
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_015443.4(KANSL1):c.2940G>C (p.Leu980Phe)
NM_015443.4(KANSL1):c.2941T>C (p.Ser981Pro)
NM_015443.4(KANSL1):c.2952C>G (p.Ser984=)
NM_015443.4(KANSL1):c.2956G>A (p.Gly986Ser) rs2146306880
NM_015443.4(KANSL1):c.2957G>C (p.Gly986Ala)
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=) rs767403167
NM_015443.4(KANSL1):c.295C>G (p.Gln99Glu)
NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter) rs2147749507
NM_015443.4(KANSL1):c.2963C>A (p.Ser988Tyr)
NM_015443.4(KANSL1):c.2965C>A (p.Pro989Thr)
NM_015443.4(KANSL1):c.2966C>G (p.Pro989Arg)
NM_015443.4(KANSL1):c.2968A>G (p.Arg990Gly)
NM_015443.4(KANSL1):c.2980A>G (p.Ser994Gly)
NM_015443.4(KANSL1):c.298G>C (p.Gly100Arg) rs766155678
NM_015443.4(KANSL1):c.2993A>G (p.His998Arg)
NM_015443.4(KANSL1):c.2998G>A (p.Ala1000Thr)
NM_015443.4(KANSL1):c.3003C>T (p.Pro1001=)
NM_015443.4(KANSL1):c.3004C>T (p.Leu1002Phe)
NM_015443.4(KANSL1):c.300G>A (p.Gly100=) rs2147749359
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)
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015443.4(KANSL1):c.3032G>A (p.Arg1011Gln)
NM_015443.4(KANSL1):c.3043A>G (p.Ser1015Gly)
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs) rs2077025601
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.3054C>T (p.Thr1018=) rs2077025335
NM_015443.4(KANSL1):c.3057T>C (p.Arg1019=) rs1598441174
NM_015443.4(KANSL1):c.3064A>G (p.Thr1022Ala) rs1269773544
NM_015443.4(KANSL1):c.3068C>T (p.Pro1023Leu)
NM_015443.4(KANSL1):c.3078G>A (p.Gly1026=)
NM_015443.4(KANSL1):c.3079C>A (p.Leu1027Met) rs1202646378
NM_015443.4(KANSL1):c.3090+19G>A
NM_015443.4(KANSL1):c.3090+7G>A
NM_015443.4(KANSL1):c.3091-7C>T rs2146302270
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys) rs2146302096
NM_015443.4(KANSL1):c.3109C>T (p.Arg1037Trp)
NM_015443.4(KANSL1):c.3123C>T (p.Pro1041=)
NM_015443.4(KANSL1):c.3125del (p.Leu1042fs) rs797045049
NM_015443.4(KANSL1):c.3135T>C (p.Ser1045=)
NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His)
NM_015443.4(KANSL1):c.3144G>A (p.Ala1048=)
NM_015443.4(KANSL1):c.3144G>C (p.Ala1048=) rs746504988
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.3151G>A (p.Glu1051Lys)
NM_015443.4(KANSL1):c.3155A>T (p.Asp1052Val)
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.315G>T (p.Gln105His) rs761904417
NM_015443.4(KANSL1):c.3162G>T (p.Leu1054=)
NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly)
NM_015443.4(KANSL1):c.3168A>C (p.Ala1056=)
NM_015443.4(KANSL1):c.3168A>G (p.Ala1056=)
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)
NM_015443.4(KANSL1):c.3172G>T (p.Glu1058Ter)
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly) rs2077009798
NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln)
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.3220C>T (p.Arg1074Trp)
NM_015443.4(KANSL1):c.3234dup (p.Ala1079fs)
NM_015443.4(KANSL1):c.3235G>A (p.Ala1079Thr) rs1001573190
NM_015443.4(KANSL1):c.3237G>A (p.Ala1079=)
NM_015443.4(KANSL1):c.3237G>T (p.Ala1079=) rs747976314
NM_015443.4(KANSL1):c.3242C>G (p.Thr1081Ser) rs2146299866
NM_015443.4(KANSL1):c.3258C>A (p.Val1086=)
NM_015443.4(KANSL1):c.3258C>G (p.Val1086=)
NM_015443.4(KANSL1):c.3259C>G (p.Pro1087Ala)
NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe)
NM_015443.4(KANSL1):c.3266A>G (p.Lys1089Arg) rs1568364868
NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp)
NM_015443.4(KANSL1):c.3279G>A (p.Leu1093=) rs1404523701
NM_015443.4(KANSL1):c.327A>G (p.Lys109=) rs749575109
NM_015443.4(KANSL1):c.3284C>T (p.Ala1095Val)
NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly)
NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.3294A>T (p.Thr1098=) rs2077004818
NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu) rs796052598
NM_015443.4(KANSL1):c.3298C>T (p.Gln1100Ter)
NM_015443.4(KANSL1):c.3300G>A (p.Gln1100=)
NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)
NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His)
NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)
NM_015443.4(KANSL1):c.3311dup (p.His1104fs)
NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) rs761370843
NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)
NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys)
NM_015443.4(KANSL1):c.360C>A (p.Leu120=) rs2046304883
NM_015443.4(KANSL1):c.361C>G (p.Arg121Gly) rs868719408
NM_015443.4(KANSL1):c.361C>T (p.Arg121Ter)
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.388G>A (p.Val130Ile) rs766000368
NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_015443.4(KANSL1):c.400T>G (p.Ser134Ala)
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_015443.4(KANSL1):c.429G>C (p.Thr143=) rs1415127228
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr) rs886053070
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.449del (p.Pro150fs) rs1567764119
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val) rs2046319479
NM_015443.4(KANSL1):c.467G>A (p.Gly156Glu)
NM_015443.4(KANSL1):c.468G>A (p.Gly156=) rs150877831
NM_015443.4(KANSL1):c.473C>T (p.Ala158Val)
NM_015443.4(KANSL1):c.487A>G (p.Lys163Glu)
NM_015443.4(KANSL1):c.490dup (p.Ser164fs)
NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu) rs747586763
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.501_511dup (p.Asp171fs) rs2147746137
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.530A>G (p.Asn177Ser) rs765213873
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.540del (p.Lys180fs) rs1597874008
NM_015443.4(KANSL1):c.543G>T (p.Arg181=) rs2147745276
NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp) rs2046318820
NM_015443.4(KANSL1):c.562C>T (p.Leu188Phe)
NM_015443.4(KANSL1):c.566A>T (p.His189Leu) rs779655554
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp) rs2046293564
NM_015443.4(KANSL1):c.570G>A (p.Gly190=) rs1365962710
NM_015443.4(KANSL1):c.572del (p.Gly191fs) rs1555575816
NM_015443.4(KANSL1):c.577A>G (p.Met193Val) rs2147744657
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.607G>T (p.Gly203Trp) 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.611del (p.Gly204fs)
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
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.657C>T (p.His219=) rs758128635
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.677A>G (p.Asn226Ser) rs1428454868
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
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.714A>G (p.Glu238=) rs749206026
NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter) rs780346743
NM_015443.4(KANSL1):c.717G>A (p.Gln239=) rs756250182
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.764G>A (p.Ser255Asn) rs769994474
NM_015443.4(KANSL1):c.766T>C (p.Ser256Pro)
NM_015443.4(KANSL1):c.768dup (p.Asn257Ter)
NM_015443.4(KANSL1):c.76T>A (p.Ser26Thr)
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
NM_015443.4(KANSL1):c.774G>C (p.Leu258Phe) rs202232945
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015443.4(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_015443.4(KANSL1):c.783C>G (p.Val261=) rs1555575518
NM_015443.4(KANSL1):c.787T>C (p.Leu263=) rs753216239
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.819T>A (p.Ile273=) rs2147739127
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.84C>T (p.Thr28=) rs755321759
NM_015443.4(KANSL1):c.876del (p.Asp293fs) rs1597872089
NM_015443.4(KANSL1):c.878del (p.Asp293fs) rs1555575405
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn) rs1435339492
NM_015443.4(KANSL1):c.890G>A (p.Arg297His) rs748350342
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.908_909del (p.Lys303fs)
NM_015443.4(KANSL1):c.909G>A (p.Lys303=)
NM_015443.4(KANSL1):c.915A>G (p.Leu305=) rs2147737191
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015443.4(KANSL1):c.925C>T (p.Gln309Ter)
NM_015443.4(KANSL1):c.926A>G (p.Gln309Arg) rs2147737029
NM_015443.4(KANSL1):c.930C>T (p.Ala310=) rs763673329
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.942G>A (p.Glu314=) rs765182404
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.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.985_995del (p.Leu329fs) rs1057518659
NM_015443.4(KANSL1):c.986del (p.Thr328_Leu329insTer)
NM_015443.4(KANSL1):c.989G>A (p.Ser330Asn) rs2147735832
NM_015443.4(KANSL1):c.993dup (p.Leu332fs)
NM_015443.4:c.1431+1_1432-1del

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