ClinVar Miner

List of variants reported as uncertain significance for Koolen-de Vries syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760 0.00017
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.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.619A>G (p.Asn207Asp) rs372601814 0.00007
NM_015443.4(KANSL1):c.896G>A (p.Arg299His) rs201785695 0.00007
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.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.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.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.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.1945C>G (p.His649Asp) rs759914921 0.00003
NM_015443.4(KANSL1):c.2202C>G (p.Ala734=) rs1555734069 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.1118G>C (p.Ser373Thr) rs747621748 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.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.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.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.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.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.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.2002G>A (p.Val668Ile) rs1055952978 0.00001
NM_015443.4(KANSL1):c.2040T>G (p.His680Gln) rs1418595836 0.00001
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710 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.2687A>G (p.Gln896Arg) rs774020325 0.00001
NM_015443.4(KANSL1):c.2740G>A (p.Asp914Asn) rs1200984517 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.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.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.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.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.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.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.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.709A>G (p.Met237Val) rs778942078 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.844A>C (p.Thr282Pro) rs1371045758 0.00001
NM_015443.4(KANSL1):c.853A>G (p.Thr285Ala) rs925132857 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.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
NC_000017.10:g.(?_43861911)_(44145053_?)dup
NC_000017.10:g.(?_44073755)_(44159918_?)dup
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.1002C>G (p.Asn334Lys) rs1272158850
NM_015443.4(KANSL1):c.1004T>G (p.Leu335Trp) rs1344231808
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.1114A>G (p.Lys372Glu) rs2147733057
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_015443.4(KANSL1):c.1154C>T (p.Ala385Val) rs913316099
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.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.1277G>C (p.Arg426Pro) rs764291274
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu) rs1166960320
NM_015443.4(KANSL1):c.1289+3G>A rs2046246397
NM_015443.4(KANSL1):c.1289+3_1289+5del rs1597870189
NM_015443.4(KANSL1):c.1327_1328insATTC (p.Ala443fs) rs2146947656
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.1450G>A (p.Glu484Lys) rs1173584837
NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu) rs914530267
NM_015443.4(KANSL1):c.1462C>G (p.Pro488Ala)
NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys) rs2544353406
NM_015443.4(KANSL1):c.1483T>G (p.Phe495Val)
NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly) rs2146826344
NM_015443.4(KANSL1):c.1546T>A (p.Ser516Thr) rs2510765094
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
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.1616G>A (p.Cys539Tyr) rs776741181
NM_015443.4(KANSL1):c.1622C>A (p.Ala541Glu) rs1459925218
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.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.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.1763G>A (p.Cys588Tyr)
NM_015443.4(KANSL1):c.1765G>T (p.Val589Leu) rs1357621164
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
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.1799A>G (p.Lys600Arg) rs770594188
NM_015443.4(KANSL1):c.1805G>A (p.Arg602Gln)
NM_015443.4(KANSL1):c.1832T>C (p.Val611Ala) rs2510756848
NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val) rs776773635
NM_015443.4(KANSL1):c.1843A>C (p.Lys615Gln)
NM_015443.4(KANSL1):c.1848+6T>C rs2510756695
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser) rs567178302
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.1937C>T (p.Pro646Leu) rs796052585
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.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.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.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.2150A>G (p.Asp717Gly) rs2146369181
NM_015443.4(KANSL1):c.2161A>G (p.Lys721Glu) rs2146368894
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.2206C>G (p.Leu736Val) rs1568374912
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.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.2366G>A (p.Arg789Gln) rs2146362190
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr) rs2077233312
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.2455C>G (p.His819Asp) rs758071565
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.2483C>T (p.Thr828Ile) rs2077220546
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del) rs1568373517
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.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.2534G>A (p.Ser845Asn) rs796052597
NM_015443.4(KANSL1):c.2541G>C (p.Ser847=) rs200079722
NM_015443.4(KANSL1):c.2542-3C>T rs2510407804
NM_015443.4(KANSL1):c.2552T>G (p.Val851Gly)
NM_015443.4(KANSL1):c.2570A>G (p.Glu857Gly)
NM_015443.4(KANSL1):c.2579_2580delinsGC (p.Phe860Cys) rs2510407066
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.2627G>A (p.Arg876His)
NM_015443.4(KANSL1):c.2648A>G (p.Lys883Arg) rs2510405581
NM_015443.4(KANSL1):c.2667-3C>T rs766948021
NM_015443.4(KANSL1):c.2680G>A (p.Asp894Asn) rs2510394212
NM_015443.4(KANSL1):c.2705C>G (p.Pro902Arg) rs2510393528
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+5T>G rs1327945886
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.277A>G (p.Lys93Glu) rs752219095
NM_015443.4(KANSL1):c.2810G>A (p.Ser937Asn)
NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu) rs2510386888
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.2838-3C>T rs2510373950
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) rs147378906
NM_015443.4(KANSL1):c.2874G>C (p.Gln958His)
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.2940G>C (p.Leu980Phe) rs2077029420
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.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.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.3053C>A (p.Thr1018Asn) rs145863194
NM_015443.4(KANSL1):c.3079C>A (p.Leu1027Met) rs1202646378
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys) rs2146302096
NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His) rs796052589
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.315G>T (p.Gln105His) rs761904417
NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly) rs2510354680
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.3184C>T (p.Arg1062Cys) rs2077009434
NM_015443.4(KANSL1):c.3193C>G (p.Arg1065Gly) rs2146300587
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.3295G>C (p.Ala1099Pro) rs560719955
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.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.361C>G (p.Arg121Gly) rs868719408
NM_015443.4(KANSL1):c.388G>A (p.Val130Ile) rs766000368
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr) rs886053070
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val) rs2046319479
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val) rs775582928
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer) rs2046298627
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.536G>A (p.Gly179Glu) rs2046295807
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
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.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.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.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.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.715C>T (p.Gln239Ter) rs780346743
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) rs142096969
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.774G>C (p.Leu258Phe) rs202232945
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.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.893C>G (p.Ala298Gly) rs149363799
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
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.989G>A (p.Ser330Asn) rs2147735832

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