ClinVar Miner

List of variants in gene KANSL1 reported as likely benign for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 426
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HGVS dbSNP gnomAD frequency
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.727C>A (p.Gln243Lys) rs142096969 0.00174
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
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.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.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.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile) rs144337302 0.00031
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
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.498A>C (p.Thr166=) rs141491325 0.00014
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.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.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.1653-6G>A rs369261388 0.00007
NM_015443.4(KANSL1):c.3091-15C>A rs565665710 0.00007
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.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.2538A>G (p.Thr846=) rs148718200 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.729A>G (p.Gln243=) rs775976415 0.00006
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.1092A>C (p.Ser364=) rs1383244175 0.00004
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=) rs199820469 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.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.2985G>A (p.Pro995=) rs371484505 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.810G>A (p.Leu270=) rs762766030 0.00004
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 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.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.387A>G (p.Pro129=) rs753493307 0.00003
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831 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.1110T>C (p.Phe370=) rs374053775 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.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.1899C>T (p.Cys633=) rs148259171 0.00002
NM_015443.4(KANSL1):c.1902A>G (p.Ala634=) rs757691368 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.2463C>T (p.Pro821=) rs765044321 0.00002
NM_015443.4(KANSL1):c.2739C>T (p.Ser913=) rs755326320 0.00002
NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His) rs768018906 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.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.102C>T (p.Ala34=) rs763633500 0.00001
NM_015443.4(KANSL1):c.1042C>G (p.Arg348Gly) rs1427624649 0.00001
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val) rs191058987 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 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.141C>T (p.Asn47=) rs1403319543 0.00001
NM_015443.4(KANSL1):c.1432-13C>T rs1280259254 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.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.1882G>C (p.Asp628His) rs375256880 0.00001
NM_015443.4(KANSL1):c.18C>T (p.Pro6=) rs774056059 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.2112G>A (p.Ser704=) rs775144162 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.2268C>T (p.Ala756=) rs530885936 0.00001
NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys) rs778213372 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.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.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.2754C>T (p.Ala918=) rs138070874 0.00001
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln) rs1400431996 0.00001
NM_015443.4(KANSL1):c.2808G>A (p.Thr936=) rs372559911 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.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.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.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.3129G>A (p.Ala1043=) rs140670092 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.3279G>T (p.Leu1093=) rs1404523701 0.00001
NM_015443.4(KANSL1):c.33A>G (p.Ala11=) rs769676607 0.00001
NM_015443.4(KANSL1):c.362G>A (p.Arg121Gln) rs747500833 0.00001
NM_015443.4(KANSL1):c.481T>C (p.Leu161=) rs777106355 0.00001
NM_015443.4(KANSL1):c.555A>C (p.Ser185=) rs199498626 0.00001
NM_015443.4(KANSL1):c.702C>A (p.Val234=) rs1057521846 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.837T>C (p.Asp279=) rs758771116 0.00001
NM_015443.4(KANSL1):c.865C>T (p.Arg289Trp) rs373759089 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.930C>G (p.Ala310=) rs763673329 0.00001
NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp) rs765182404 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.(?_44108842)_(44159928_?)dup
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.1074C>T (p.Ala358=) rs2147733945
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.1152A>G (p.Thr384=) rs1597870803
NM_015443.4(KANSL1):c.1155T>G (p.Ala385=) rs1597870775
NM_015443.4(KANSL1):c.1230G>A (p.Glu410=) rs777308407
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.1280A>G (p.His427Arg) rs1166960320
NM_015443.4(KANSL1):c.1289+14A>G rs1189904152
NM_015443.4(KANSL1):c.1289+20G>T rs2147729504
NM_015443.4(KANSL1):c.1326G>C (p.Arg442=) rs2146947680
NM_015443.4(KANSL1):c.1374C>T (p.Asp458=) rs2146947181
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.1432-11C>T
NM_015443.4(KANSL1):c.1432-14T>C
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.1452G>A (p.Glu484=) rs2146827620
NM_015443.4(KANSL1):c.1455A>G (p.Val485=)
NM_015443.4(KANSL1):c.1461C>T (p.Pro487=)
NM_015443.4(KANSL1):c.1480T>C (p.Leu494=)
NM_015443.4(KANSL1):c.1482A>G (p.Leu494=)
NM_015443.4(KANSL1):c.1491A>C (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.1524T>C (p.Thr508=)
NM_015443.4(KANSL1):c.1525G>A (p.Asp509Asn)
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+20A>G
NM_015443.4(KANSL1):c.1533+7A>G rs2079019657
NM_015443.4(KANSL1):c.1534-13T>C
NM_015443.4(KANSL1):c.1555T>C (p.Leu519=)
NM_015443.4(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_015443.4(KANSL1):c.1569T>G (p.Gly523=)
NM_015443.4(KANSL1):c.1576ATT[1] (p.Ile527del) rs1418530749
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.1605T>C (p.Ser535=) rs200561483
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_015443.4(KANSL1):c.1637A>G (p.Asn546Ser)
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.168A>G (p.Ala56=) rs1567764859
NM_015443.4(KANSL1):c.1697A>T (p.Asp566Val) rs2078390025
NM_015443.4(KANSL1):c.1701T>C (p.Ala567=)
NM_015443.4(KANSL1):c.1707A>G (p.Glu569=) rs2146658180
NM_015443.4(KANSL1):c.1715A>G (p.His572Arg)
NM_015443.4(KANSL1):c.1755T>C (p.Asp585=)
NM_015443.4(KANSL1):c.1770A>G (p.Ala590=)
NM_015443.4(KANSL1):c.1773C>G (p.Ala591=)
NM_015443.4(KANSL1):c.1782T>C (p.Arg594=)
NM_015443.4(KANSL1):c.1818A>G (p.Arg606=)
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) rs150800846
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1848+19T>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.1849-4A>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.1887G>A (p.Val629=) rs2146485926
NM_015443.4(KANSL1):c.190C>A (p.Arg64=) rs762509401
NM_015443.4(KANSL1):c.1917C>G (p.Gly639=) rs2146485476
NM_015443.4(KANSL1):c.1939G>A (p.Glu647Lys)
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys) rs777228945
NM_015443.4(KANSL1):c.1962G>A (p.Leu654=)
NM_015443.4(KANSL1):c.1970G>A (p.Arg657His) rs2077676783
NM_015443.4(KANSL1):c.2016A>G (p.Pro672=)
NM_015443.4(KANSL1):c.2020+17A>G
NM_015443.4(KANSL1):c.2020+18C>A
NM_015443.4(KANSL1):c.2021-20G>A
NM_015443.4(KANSL1):c.2021-3C>T rs2077262439
NM_015443.4(KANSL1):c.2035C>T (p.Leu679=)
NM_015443.4(KANSL1):c.2058A>G (p.Lys686=) rs2146370677
NM_015443.4(KANSL1):c.2078C>G (p.Pro693Arg) rs754207638
NM_015443.4(KANSL1):c.2100C>T (p.Pro700=)
NM_015443.4(KANSL1):c.2115T>G (p.Leu705=) rs769484238
NM_015443.4(KANSL1):c.2127A>G (p.Ala709=)
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.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.2204-8C>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.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.2232C>T (p.Asp744=)
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.2280G>A (p.Val760=)
NM_015443.4(KANSL1):c.2285G>A (p.Arg762Gln) rs746084966
NM_015443.4(KANSL1):c.2295G>A (p.Ala765=)
NM_015443.4(KANSL1):c.2313G>A (p.Leu771=) rs2146363069
NM_015443.4(KANSL1):c.2363T>G (p.Leu788Trp)
NM_015443.4(KANSL1):c.2364G>A (p.Leu788=)
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.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.2454A>G (p.Pro818=) rs2146358617
NM_015443.4(KANSL1):c.2478C>G (p.Leu826=)
NM_015443.4(KANSL1):c.249C>G (p.Leu83=) rs768816086
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile) rs770500282
NM_015443.4(KANSL1):c.2541+11G>C
NM_015443.4(KANSL1):c.2541+18G>C
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
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.2554A>C (p.Arg852=) rs2146325132
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.2658T>G (p.Leu886=) rs2146324506
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.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.2673G>A (p.Arg891=) rs2146318945
NM_015443.4(KANSL1):c.2677G>T (p.Val893Phe)
NM_015443.4(KANSL1):c.2691T>C (p.Ser897=)
NM_015443.4(KANSL1):c.2692C>T (p.Leu898=)
NM_015443.4(KANSL1):c.2694G>A (p.Leu898=) rs2146318637
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2724+14T>G
NM_015443.4(KANSL1):c.2724+16T>G
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.2747C>G (p.Ala916Gly)
NM_015443.4(KANSL1):c.2790A>G (p.Ala930=)
NM_015443.4(KANSL1):c.2797C>T (p.Leu933=)
NM_015443.4(KANSL1):c.2828G>A (p.Arg943Gln)
NM_015443.4(KANSL1):c.2837+20T>C
NM_015443.4(KANSL1):c.2837+7G>T rs780476310
NM_015443.4(KANSL1):c.2838-18G>C
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.2850A>G (p.Ser950=)
NM_015443.4(KANSL1):c.2874G>A (p.Gln958=) rs1010687863
NM_015443.4(KANSL1):c.2877G>T (p.Leu959=) rs2146308107
NM_015443.4(KANSL1):c.2889C>T (p.Asn963=)
NM_015443.4(KANSL1):c.2901C>A (p.Pro967=)
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.2952C>G (p.Ser984=)
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=) rs767403167
NM_015443.4(KANSL1):c.298G>C (p.Gly100Arg) rs766155678
NM_015443.4(KANSL1):c.3003C>T (p.Pro1001=)
NM_015443.4(KANSL1):c.300G>A (p.Gly100=) rs2147749359
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.3068C>T (p.Pro1023Leu)
NM_015443.4(KANSL1):c.3078G>A (p.Gly1026=)
NM_015443.4(KANSL1):c.3090+7G>A
NM_015443.4(KANSL1):c.3091-7C>T rs2146302270
NM_015443.4(KANSL1):c.3109C>T (p.Arg1037Trp)
NM_015443.4(KANSL1):c.3123C>T (p.Pro1041=)
NM_015443.4(KANSL1):c.3135T>C (p.Ser1045=)
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.315G>A (p.Gln105=) rs761904417
NM_015443.4(KANSL1):c.3162G>T (p.Leu1054=)
NM_015443.4(KANSL1):c.3168A>C (p.Ala1056=)
NM_015443.4(KANSL1):c.3168A>G (p.Ala1056=)
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter) rs2146300587
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.3258C>A (p.Val1086=)
NM_015443.4(KANSL1):c.3258C>G (p.Val1086=)
NM_015443.4(KANSL1):c.3266A>G (p.Lys1089Arg) rs1568364868
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.3294A>T (p.Thr1098=) rs2077004818
NM_015443.4(KANSL1):c.3300G>A (p.Gln1100=)
NM_015443.4(KANSL1):c.360C>A (p.Leu120=) rs2046304883
NM_015443.4(KANSL1):c.372G>T (p.Leu124=) rs778607325
NM_015443.4(KANSL1):c.429G>C (p.Thr143=) rs1415127228
NM_015443.4(KANSL1):c.468G>A (p.Gly156=) rs150877831
NM_015443.4(KANSL1):c.487A>G (p.Lys163Glu)
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_015443.4(KANSL1):c.543G>T (p.Arg181=) rs2147745276
NM_015443.4(KANSL1):c.566A>T (p.His189Leu) rs779655554
NM_015443.4(KANSL1):c.570G>A (p.Gly190=) rs1365962710
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp) rs138175526
NM_015443.4(KANSL1):c.657C>T (p.His219=) rs758128635
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.714A>G (p.Glu238=) rs749206026
NM_015443.4(KANSL1):c.717G>A (p.Gln239=) rs756250182
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala) rs778091394
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
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.819T>A (p.Ile273=) rs2147739127
NM_015443.4(KANSL1):c.84C>T (p.Thr28=) rs755321759
NM_015443.4(KANSL1):c.890G>A (p.Arg297His) rs748350342
NM_015443.4(KANSL1):c.915A>G (p.Leu305=) rs2147737191
NM_015443.4(KANSL1):c.930C>T (p.Ala310=) rs763673329
NM_015443.4(KANSL1):c.942G>A (p.Glu314=) rs765182404

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