NM_015443.4(KANSL1):c.*954C>G
|
rs150500194
|
0.00393
|
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
|
rs138698439
|
0.00157
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00031
|
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser)
|
rs142587760
|
0.00017
|
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro)
|
rs202231419
|
0.00015
|
NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu)
|
rs149302199
|
0.00014
|
NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr)
|
rs150115249
|
0.00010
|
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)
|
rs771796347
|
0.00010
|
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser)
|
rs200903841
|
0.00008
|
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile)
|
rs143589497
|
0.00007
|
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly)
|
rs751709708
|
0.00007
|
NM_015443.4(KANSL1):c.12G>A (p.Met4Ile)
|
rs146472353
|
0.00007
|
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)
|
rs757031050
|
0.00007
|
NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp)
|
rs372601814
|
0.00007
|
NM_015443.4(KANSL1):c.896G>A (p.Arg299His)
|
rs201785695
|
0.00007
|
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
NM_015443.4(KANSL1):c.2128C>A (p.Pro710Thr)
|
rs550137256
|
0.00006
|
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)
|
rs140089320
|
0.00006
|
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)
|
rs750012482
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys)
|
rs757224600
|
0.00005
|
NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)
|
rs567178302
|
0.00005
|
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly)
|
rs141969887
|
0.00005
|
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe)
|
rs537773238
|
0.00005
|
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)
|
rs570475423
|
0.00005
|
NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr)
|
rs1466777621
|
0.00004
|
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr)
|
rs376632173
|
0.00004
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
0.00004
|
NM_015443.4(KANSL1):c.1870C>T (p.Arg624Cys)
|
rs368180304
|
0.00004
|
NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe)
|
rs773238363
|
0.00004
|
NM_015443.4(KANSL1):c.890G>A (p.Arg297His)
|
rs748350342
|
0.00004
|
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly)
|
rs780539765
|
0.00004
|
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp)
|
rs373918467
|
0.00003
|
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln)
|
rs779968528
|
0.00003
|
NM_015443.4(KANSL1):c.117C>T (p.Asn39=)
|
rs747136051
|
0.00003
|
NM_015443.4(KANSL1):c.1480T>G (p.Leu494Val)
|
rs955924903
|
0.00003
|
NM_015443.4(KANSL1):c.1848+3C>T
|
rs763185589
|
0.00003
|
NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln)
|
rs1424923651
|
0.00003
|
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr)
|
rs145938212
|
0.00003
|
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)
|
rs759914921
|
0.00003
|
NM_015443.4(KANSL1):c.2202C>G (p.Ala734=)
|
rs1555734069
|
0.00003
|
NM_015443.4(KANSL1):c.2392+19C>T
|
rs200777153
|
0.00003
|
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)
|
rs1037585739
|
0.00003
|
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)
|
rs138490347
|
0.00003
|
NM_015443.4(KANSL1):c.3091-3C>T
|
rs374360315
|
0.00003
|
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu)
|
rs781609742
|
0.00003
|
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln)
|
rs767960522
|
0.00003
|
NM_015443.4(KANSL1):c.583G>A (p.Gly195Arg)
|
rs780762914
|
0.00003
|
NM_015443.4(KANSL1):c.936G>C (p.Gln312His)
|
rs752395011
|
0.00003
|
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln)
|
rs371321182
|
0.00002
|
NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr)
|
rs747621748
|
0.00002
|
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
|
rs770738115
|
0.00002
|
NM_015443.4(KANSL1):c.1294C>T (p.Arg432Cys)
|
rs755296202
|
0.00002
|
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val)
|
rs767702173
|
0.00002
|
NM_015443.4(KANSL1):c.1957C>G (p.Pro653Ala)
|
rs2510649381
|
0.00002
|
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)
|
rs762407803
|
0.00002
|
NM_015443.4(KANSL1):c.2155G>C (p.Ala719Pro)
|
rs546820304
|
0.00002
|
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)
|
rs773681267
|
0.00002
|
NM_015443.4(KANSL1):c.2791C>T (p.Arg931Trp)
|
rs377108187
|
0.00002
|
NM_015443.4(KANSL1):c.3272G>A (p.Arg1091Gln)
|
rs752029022
|
0.00002
|
NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His)
|
rs1289935394
|
0.00002
|
NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser)
|
rs766543331
|
0.00002
|
NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe)
|
rs1343422507
|
0.00002
|
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)
|
rs766991003
|
0.00002
|
NM_015443.4(KANSL1):c.869G>A (p.Arg290Gln)
|
rs775473139
|
0.00002
|
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys)
|
rs772236084
|
0.00002
|
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser)
|
rs200997135
|
0.00001
|
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys)
|
rs369793673
|
0.00001
|
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile)
|
rs775962610
|
0.00001
|
NM_015443.4(KANSL1):c.110A>G (p.Asn37Ser)
|
rs769773348
|
0.00001
|
NM_015443.4(KANSL1):c.1145G>A (p.Arg382Lys)
|
rs369920825
|
0.00001
|
NM_015443.4(KANSL1):c.1165G>A (p.Ala389Thr)
|
rs761900361
|
0.00001
|
NM_015443.4(KANSL1):c.1166C>T (p.Ala389Val)
|
rs368394693
|
0.00001
|
NM_015443.4(KANSL1):c.1213A>G (p.Ser405Gly)
|
rs1165902493
|
0.00001
|
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys)
|
rs780942888
|
0.00001
|
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His)
|
rs754111757
|
0.00001
|
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His)
|
rs760727599
|
0.00001
|
NM_015443.4(KANSL1):c.1391G>A (p.Arg464His)
|
rs769289937
|
0.00001
|
NM_015443.4(KANSL1):c.1402G>C (p.Asp468His)
|
rs745576981
|
0.00001
|
NM_015443.4(KANSL1):c.1405A>G (p.Ile469Val)
|
rs1397262734
|
0.00001
|
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His)
|
rs770719196
|
0.00001
|
NM_015443.4(KANSL1):c.142G>A (p.Gly48Arg)
|
rs148847759
|
0.00001
|
NM_015443.4(KANSL1):c.1469A>C (p.His490Pro)
|
rs2079022531
|
0.00001
|
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn)
|
rs375555532
|
0.00001
|
NM_015443.4(KANSL1):c.1541C>T (p.Ser514Phe)
|
rs755595611
|
0.00001
|
NM_015443.4(KANSL1):c.1568G>T (p.Gly523Val)
|
rs1568411157
|
0.00001
|
NM_015443.4(KANSL1):c.1576A>G (p.Ile526Val)
|
rs370560721
|
0.00001
|
NM_015443.4(KANSL1):c.1579A>G (p.Ile527Val)
|
rs1300080423
|
0.00001
|
NM_015443.4(KANSL1):c.1615T>C (p.Cys539Arg)
|
rs745919501
|
0.00001
|
NM_015443.4(KANSL1):c.1621G>A (p.Ala541Thr)
|
rs2510764251
|
0.00001
|
NM_015443.4(KANSL1):c.1629A>T (p.Arg543Ser)
|
rs1375084760
|
0.00001
|
NM_015443.4(KANSL1):c.1676A>G (p.His559Arg)
|
rs886053069
|
0.00001
|
NM_015443.4(KANSL1):c.1768G>T (p.Ala590Ser)
|
rs1372778597
|
0.00001
|
NM_015443.4(KANSL1):c.1781G>A (p.Arg594His)
|
rs1057520691
|
0.00001
|
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala)
|
rs947698008
|
0.00001
|
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg)
|
rs749811911
|
0.00001
|
NM_015443.4(KANSL1):c.1817G>A (p.Arg606Gln)
|
rs758110910
|
0.00001
|
NM_015443.4(KANSL1):c.181C>A (p.Leu61Ile)
|
rs1567764831
|
0.00001
|
NM_015443.4(KANSL1):c.1822A>T (p.Asn608Tyr)
|
rs375533550
|
0.00001
|
NM_015443.4(KANSL1):c.1849-3C>T
|
rs757213880
|
0.00001
|
NM_015443.4(KANSL1):c.1871G>A (p.Arg624His)
|
rs774078834
|
0.00001
|
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg)
|
rs2510650948
|
0.00001
|
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln)
|
rs752415137
|
0.00001
|
NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg)
|
rs761226381
|
0.00001
|
NM_015443.4(KANSL1):c.1991G>T (p.Cys664Phe)
|
rs368245340
|
0.00001
|
NM_015443.4(KANSL1):c.1993G>A (p.Val665Ile)
|
rs1180495776
|
0.00001
|
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr)
|
rs768152581
|
0.00001
|
NM_015443.4(KANSL1):c.2002G>A (p.Val668Ile)
|
rs1055952978
|
0.00001
|
NM_015443.4(KANSL1):c.2040T>G (p.His680Gln)
|
rs1418595836
|
0.00001
|
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
|
rs1221529726
|
0.00001
|
NM_015443.4(KANSL1):c.2077C>G (p.Pro693Ala)
|
rs1057520758
|
0.00001
|
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn)
|
rs371108710
|
0.00001
|
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
|
rs376233499
|
0.00001
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)
|
rs752047149
|
0.00001
|
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met)
|
rs773184800
|
0.00001
|
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)
|
rs761904173
|
0.00001
|
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met)
|
rs749337566
|
0.00001
|
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His)
|
rs144377285
|
0.00001
|
NM_015443.4(KANSL1):c.2321C>T (p.Pro774Leu)
|
rs2077235534
|
0.00001
|
NM_015443.4(KANSL1):c.2392+3A>T
|
rs1568374384
|
0.00001
|
NM_015443.4(KANSL1):c.2417G>A (p.Ser806Asn)
|
rs539976549
|
0.00001
|
NM_015443.4(KANSL1):c.2506G>A (p.Ala836Thr)
|
rs935626079
|
0.00001
|
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly)
|
rs776349500
|
0.00001
|
NM_015443.4(KANSL1):c.2536A>G (p.Thr846Ala)
|
rs2077218359
|
0.00001
|
NM_015443.4(KANSL1):c.2540C>T (p.Ser847Leu)
|
rs754964384
|
0.00001
|
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met)
|
rs779806189
|
0.00001
|
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg)
|
rs774020325
|
0.00001
|
NM_015443.4(KANSL1):c.2740G>A (p.Asp914Asn)
|
rs1200984517
|
0.00001
|
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
|
rs1400431996
|
0.00001
|
NM_015443.4(KANSL1):c.2807C>T (p.Thr936Met)
|
rs867665726
|
0.00001
|
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu)
|
rs774259324
|
0.00001
|
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)
|
rs1322831151
|
0.00001
|
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)
|
rs376635152
|
0.00001
|
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser)
|
rs1315792143
|
0.00001
|
NM_015443.4(KANSL1):c.2890C>T (p.Pro964Ser)
|
rs2077031570
|
0.00001
|
NM_015443.4(KANSL1):c.2893T>C (p.Ser965Pro)
|
rs1291308469
|
0.00001
|
NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)
|
rs770177501
|
0.00001
|
NM_015443.4(KANSL1):c.2941T>C (p.Ser981Pro)
|
rs1249553881
|
0.00001
|
NM_015443.4(KANSL1):c.2963C>A (p.Ser988Tyr)
|
rs2510369313
|
0.00001
|
NM_015443.4(KANSL1):c.2966C>G (p.Pro989Arg)
|
rs2510369125
|
0.00001
|
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)
|
rs573432386
|
0.00001
|
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)
|
rs1057522661
|
0.00001
|
NM_015443.4(KANSL1):c.3020G>A (p.Arg1007Gln)
|
rs148203818
|
0.00001
|
NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=)
|
rs779686052
|
0.00001
|
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)
|
rs781056926
|
0.00001
|
NM_015443.4(KANSL1):c.3091-5_3091-2dup
|
rs760084513
|
0.00001
|
NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val)
|
rs1194713411
|
0.00001
|
NM_015443.4(KANSL1):c.3139C>G (p.Gln1047Glu)
|
rs770548045
|
0.00001
|
NM_015443.4(KANSL1):c.3143C>T (p.Ala1048Val)
|
rs200719065
|
0.00001
|
NM_015443.4(KANSL1):c.3154G>A (p.Asp1052Asn)
|
rs1037675968
|
0.00001
|
NM_015443.4(KANSL1):c.3167C>T (p.Ala1056Val)
|
rs1363712616
|
0.00001
|
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala)
|
rs371450753
|
0.00001
|
NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln)
|
rs780165589
|
0.00001
|
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys)
|
rs1259929847
|
0.00001
|
NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)
|
rs1380751165
|
0.00001
|
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln)
|
rs763541067
|
0.00001
|
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)
|
rs760256746
|
0.00001
|
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val)
|
rs370112084
|
0.00001
|
NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser)
|
rs199769766
|
0.00001
|
NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp)
|
rs922454072
|
0.00001
|
NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly)
|
rs529738082
|
0.00001
|
NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)
|
rs1372183525
|
0.00001
|
NM_015443.4(KANSL1):c.33A>G (p.Ala11=)
|
rs769676607
|
0.00001
|
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys)
|
rs781582912
|
0.00001
|
NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr)
|
rs528026295
|
0.00001
|
NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp)
|
rs1486873707
|
0.00001
|
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val)
|
rs1064797226
|
0.00001
|
NM_015443.4(KANSL1):c.406G>C (p.Glu136Gln)
|
rs2046302554
|
0.00001
|
NM_015443.4(KANSL1):c.418A>C (p.Thr140Pro)
|
rs2046302196
|
0.00001
|
NM_015443.4(KANSL1):c.454G>A (p.Ala152Thr)
|
rs538005482
|
0.00001
|
NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala)
|
rs778413024
|
0.00001
|
NM_015443.4(KANSL1):c.500A>G (p.His167Arg)
|
rs779594202
|
0.00001
|
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln)
|
rs771481251
|
0.00001
|
NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn)
|
rs1366986871
|
0.00001
|
NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp)
|
rs2046318820
|
0.00001
|
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val)
|
rs759522694
|
0.00001
|
NM_015443.4(KANSL1):c.623G>A (p.Cys208Tyr)
|
rs762448559
|
0.00001
|
NM_015443.4(KANSL1):c.625A>G (p.Thr209Ala)
|
rs1301400639
|
0.00001
|
NM_015443.4(KANSL1):c.641G>A (p.Ser214Asn)
|
rs746645554
|
0.00001
|
NM_015443.4(KANSL1):c.652G>C (p.Glu218Gln)
|
rs1268624539
|
0.00001
|
NM_015443.4(KANSL1):c.665T>C (p.Leu222Ser)
|
rs1297046144
|
0.00001
|
NM_015443.4(KANSL1):c.682A>T (p.Thr228Ser)
|
rs762022186
|
0.00001
|
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
|
rs778942078
|
0.00001
|
NM_015443.4(KANSL1):c.721G>A (p.Ala241Thr)
|
rs2545084589
|
0.00001
|
NM_015443.4(KANSL1):c.754A>G (p.Thr252Ala)
|
rs368487719
|
0.00001
|
NM_015443.4(KANSL1):c.798A>G (p.Lys266=)
|
rs765667414
|
0.00001
|
NM_015443.4(KANSL1):c.802T>C (p.Ser268Pro)
|
rs767021119
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015443.4(KANSL1):c.817A>G (p.Ile273Val)
|
rs769802260
|
0.00001
|
NM_015443.4(KANSL1):c.82A>G (p.Thr28Ala)
|
rs765632680
|
0.00001
|
NM_015443.4(KANSL1):c.844A>C (p.Thr282Pro)
|
rs1371045758
|
0.00001
|
NM_015443.4(KANSL1):c.853A>G (p.Thr285Ala)
|
rs925132857
|
0.00001
|
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr)
|
rs747048362
|
0.00001
|
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn)
|
rs1435339492
|
0.00001
|
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys)
|
rs755353984
|
0.00001
|
NM_015443.4(KANSL1):c.8C>T (p.Ala3Val)
|
rs376233244
|
0.00001
|
NM_015443.4(KANSL1):c.907A>G (p.Lys303Glu)
|
rs1263813959
|
0.00001
|
NM_015443.4(KANSL1):c.92C>T (p.Pro31Leu)
|
rs754355381
|
0.00001
|
NM_015443.4(KANSL1):c.951A>G (p.Ile317Met)
|
rs776437091
|
0.00001
|
NM_015443.4(KANSL1):c.986T>C (p.Leu329Ser)
|
rs1250183733
|
0.00001
|
NC_000017.10:g.(?_44108822)_(44128090_?)dup
|
|
|
NC_000017.10:g.(?_44108822)_(44159928_?)dup
|
|
|
NC_000017.10:g.(?_44143883)_(44159928_?)dup
|
|
|
NC_000017.11:g.(?_46031456)_(46067687_?)dup
|
|
|
NM_015443.4(KANSL1):c.*1103dup
|
rs142756815
|
|
NM_015443.4(KANSL1):c.*1234_*1235dup
|
rs140510364
|
|
NM_015443.4(KANSL1):c.*1354dup
|
rs67641084
|
|
NM_015443.4(KANSL1):c.*1520dup
|
rs67801660
|
|
NM_015443.4(KANSL1):c.*1551del
|
rs767830420
|
|
NM_015443.4(KANSL1):c.*28ACTA[1]
|
rs767896466
|
|
NM_015443.4(KANSL1):c.-13C>T
|
|
|
NM_015443.4(KANSL1):c.-17del
|
|
|
NM_015443.4(KANSL1):c.-23_-2del
|
rs2147753838
|
|
NM_015443.4(KANSL1):c.-90+19C>G
|
rs1057516026
|
|
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr)
|
rs112150341
|
|
NM_015443.4(KANSL1):c.1002C>G (p.Asn334Lys)
|
rs1272158850
|
|
NM_015443.4(KANSL1):c.1004T>G (p.Leu335Trp)
|
rs1344231808
|
|
NM_015443.4(KANSL1):c.1036C>A (p.Leu346Met)
|
rs1047432968
|
|
NM_015443.4(KANSL1):c.1046del (p.Lys349fs)
|
rs1567761585
|
|
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser)
|
rs1466777621
|
|
NM_015443.4(KANSL1):c.1075A>C (p.Ser359Arg)
|
rs1309097254
|
|
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly)
|
rs1309097254
|
|
NM_015443.4(KANSL1):c.1104C>G (p.Ser368Arg)
|
rs746438012
|
|
NM_015443.4(KANSL1):c.1107C>A (p.Asn369Lys)
|
rs2147733228
|
|
NM_015443.4(KANSL1):c.1111C>G (p.Leu371Val)
|
rs943298404
|
|
NM_015443.4(KANSL1):c.1114A>G (p.Lys372Glu)
|
rs2147733057
|
|
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val)
|
rs754713192
|
|
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly)
|
rs796052602
|
|
NM_015443.4(KANSL1):c.1153G>A (p.Ala385Thr)
|
|
|
NM_015443.4(KANSL1):c.1154C>T (p.Ala385Val)
|
rs913316099
|
|
NM_015443.4(KANSL1):c.1156A>G (p.Ser386Gly)
|
|
|
NM_015443.4(KANSL1):c.116A>C (p.Asn39Thr)
|
rs1060502199
|
|
NM_015443.4(KANSL1):c.116A>G (p.Asn39Ser)
|
rs1060502199
|
|
NM_015443.4(KANSL1):c.1180A>C (p.Ser394Arg)
|
rs751709708
|
|
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter)
|
rs796052603
|
|
NM_015443.4(KANSL1):c.1187A>G (p.Gln396Arg)
|
|
|
NM_015443.4(KANSL1):c.124A>G (p.Ile42Val)
|
|
|
NM_015443.4(KANSL1):c.1250A>G (p.Glu417Gly)
|
rs2046249754
|
|
NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser)
|
rs1597870423
|
|
NM_015443.4(KANSL1):c.1258A>G (p.Arg420Gly)
|
rs2147730677
|
|
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg)
|
rs2147730177
|
|
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro)
|
rs764291274
|
|
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu)
|
rs1166960320
|
|
NM_015443.4(KANSL1):c.1281T>G (p.His427Gln)
|
|
|
NM_015443.4(KANSL1):c.1289+1G>C
|
|
|
NM_015443.4(KANSL1):c.1289+3G>A
|
rs2046246397
|
|
NM_015443.4(KANSL1):c.1289+3_1289+5del
|
rs1597870189
|
|
NM_015443.4(KANSL1):c.1289+8G>C
|
rs767152233
|
|
NM_015443.4(KANSL1):c.1289T>A (p.Leu430Gln)
|
|
|
NM_015443.4(KANSL1):c.1290-3dup
|
rs1459158836
|
|
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp)
|
rs2146948079
|
|
NM_015443.4(KANSL1):c.1325G>A (p.Arg442Gln)
|
|
|
NM_015443.4(KANSL1):c.1325G>T (p.Arg442Leu)
|
|
|
NM_015443.4(KANSL1):c.1327_1328insATTC (p.Ala443fs)
|
rs2146947656
|
|
NM_015443.4(KANSL1):c.1334T>G (p.Ile445Ser)
|
|
|
NM_015443.4(KANSL1):c.1342C>T (p.Arg448Cys)
|
rs2146947447
|
|
NM_015443.4(KANSL1):c.1350C>G (p.Asn450Lys)
|
rs2041984144
|
|
NM_015443.4(KANSL1):c.1364A>G (p.His455Arg)
|
rs1057521224
|
|
NM_015443.4(KANSL1):c.1410C>A (p.Tyr470Ter)
|
rs776206707
|
|
NM_015443.4(KANSL1):c.1417A>G (p.Ile473Val)
|
|
|
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
|
rs1018963624
|
|
NM_015443.4(KANSL1):c.1450G>A (p.Glu484Lys)
|
rs1173584837
|
|
NM_015443.4(KANSL1):c.1456C>G (p.Pro486Ala)
|
|
|
NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu)
|
rs914530267
|
|
NM_015443.4(KANSL1):c.1462C>G (p.Pro488Ala)
|
|
|
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu)
|
rs990019429
|
|
NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys)
|
rs2544353406
|
|
NM_015443.4(KANSL1):c.1483T>G (p.Phe495Val)
|
|
|
NM_015443.4(KANSL1):c.149A>G (p.Lys50Arg)
|
rs2545094588
|
|
NM_015443.4(KANSL1):c.1516C>G (p.His506Asp)
|
|
|
NM_015443.4(KANSL1):c.1522A>G (p.Thr508Ala)
|
|
|
NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly)
|
rs2146826344
|
|
NM_015443.4(KANSL1):c.1533+3A>G
|
rs1944843364
|
|
NM_015443.4(KANSL1):c.1533+7A>G
|
rs2079019657
|
|
NM_015443.4(KANSL1):c.1546T>A (p.Ser516Thr)
|
rs2510765094
|
|
NM_015443.4(KANSL1):c.1563C>G (p.Asn521Lys)
|
rs886043787
|
|
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr)
|
rs1598530886
|
|
NM_015443.4(KANSL1):c.157G>A (p.Ala53Thr)
|
|
|
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg)
|
rs2078428545
|
|
NM_015443.4(KANSL1):c.158C>G (p.Ala53Gly)
|
rs796052599
|
|
NM_015443.4(KANSL1):c.1600C>G (p.Leu534Val)
|
rs1385195592
|
|
NM_015443.4(KANSL1):c.1603T>C (p.Ser535Pro)
|
rs763041904
|
|
NM_015443.4(KANSL1):c.1604C>G (p.Ser535Cys)
|
|
|
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr)
|
rs776741181
|
|
NM_015443.4(KANSL1):c.1622C>A (p.Ala541Glu)
|
rs1459925218
|
|
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp)
|
rs1555746270
|
|
NM_015443.4(KANSL1):c.164C>T (p.Ala55Val)
|
rs1213319847
|
|
NM_015443.4(KANSL1):c.1652C>G (p.Thr551Ser)
|
rs778178483
|
|
NM_015443.4(KANSL1):c.1653-3T>G
|
rs2146659159
|
|
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr)
|
rs756625356
|
|
NM_015443.4(KANSL1):c.1691G>C (p.Ser564Thr)
|
|
|
NM_015443.4(KANSL1):c.1702G>C (p.Glu568Gln)
|
|
|
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr)
|
rs759587635
|
|
NM_015443.4(KANSL1):c.1727G>T (p.Arg576Leu)
|
rs2510758027
|
|
NM_015443.4(KANSL1):c.172G>A (p.Asp58Asn)
|
rs1412208533
|
|
NM_015443.4(KANSL1):c.1738G>T (p.Val580Phe)
|
rs117412152
|
|
NM_015443.4(KANSL1):c.1753G>C (p.Asp585His)
|
rs1430848219
|
|
NM_015443.4(KANSL1):c.1756G>A (p.Gly586Ser)
|
rs2510757737
|
|
NM_015443.4(KANSL1):c.1760C>A (p.Thr587Asn)
|
rs2078387746
|
|
NM_015443.4(KANSL1):c.1760C>T (p.Thr587Ile)
|
|
|
NM_015443.4(KANSL1):c.1762T>C (p.Cys588Arg)
|
|
|
NM_015443.4(KANSL1):c.1763G>A (p.Cys588Tyr)
|
|
|
NM_015443.4(KANSL1):c.1765G>T (p.Val589Leu)
|
rs1357621164
|
|
NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr)
|
rs761905806
|
|
NM_015443.4(KANSL1):c.1774C>G (p.Arg592Gly)
|
rs774841964
|
|
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp)
|
rs774841964
|
|
NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)
|
rs2510757518
|
|
NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro)
|
rs1057520691
|
|
NM_015443.4(KANSL1):c.1796G>A (p.Cys599Tyr)
|
rs780639063
|
|
NM_015443.4(KANSL1):c.1798A>G (p.Lys600Glu)
|
|
|
NM_015443.4(KANSL1):c.1799A>G (p.Lys600Arg)
|
rs770594188
|
|
NM_015443.4(KANSL1):c.1805G>A (p.Arg602Gln)
|
|
|
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)
|
rs150800846
|
|
NM_015443.4(KANSL1):c.1832T>C (p.Val611Ala)
|
rs2510756848
|
|
NM_015443.4(KANSL1):c.1834C>T (p.Pro612Ser)
|
rs2510756824
|
|
NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val)
|
rs776773635
|
|
NM_015443.4(KANSL1):c.1843A>C (p.Lys615Gln)
|
|
|
NM_015443.4(KANSL1):c.1847A>T (p.Lys616Met)
|
|
|
NM_015443.4(KANSL1):c.1848+6T>C
|
rs2510756695
|
|
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)
|
rs200979425
|
|
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser)
|
rs567178302
|
|
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter)
|
rs762509401
|
|
NM_015443.4(KANSL1):c.1910G>A (p.Gly637Asp)
|
|
|
NM_015443.4(KANSL1):c.1930A>C (p.Met644Leu)
|
rs752955067
|
|
NM_015443.4(KANSL1):c.1933C>A (p.Pro645Thr)
|
rs2510650045
|
|
NM_015443.4(KANSL1):c.1936C>T (p.Pro646Ser)
|
|
|
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu)
|
rs796052585
|
|
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys)
|
rs777228945
|
|
NM_015443.4(KANSL1):c.1957C>T (p.Pro653Ser)
|
|
|
NM_015443.4(KANSL1):c.1984G>T (p.Asp662Tyr)
|
|
|
NM_015443.4(KANSL1):c.1986C>G (p.Asp662Glu)
|
rs2146484644
|
|
NM_015443.4(KANSL1):c.1990T>C (p.Cys664Arg)
|
rs2146484524
|
|
NM_015443.4(KANSL1):c.19G>C (p.Ala7Pro)
|
|
|
NM_015443.4(KANSL1):c.2002G>T (p.Val668Phe)
|
|
|
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala)
|
rs1446402549
|
|
NM_015443.4(KANSL1):c.2015C>A (p.Pro672Gln)
|
|
|
NM_015443.4(KANSL1):c.2018A>G (p.Asp673Gly)
|
rs2510648449
|
|
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
|
rs2046311790
|
|
NM_015443.4(KANSL1):c.2033G>A (p.Ser678Asn)
|
rs1555734253
|
|
NM_015443.4(KANSL1):c.2034C>G (p.Ser678Arg)
|
rs1294628678
|
|
NM_015443.4(KANSL1):c.2038C>T (p.His680Tyr)
|
|
|
NM_015443.4(KANSL1):c.203C>T (p.Thr68Ile)
|
|
|
NM_015443.4(KANSL1):c.2053C>A (p.Leu685Met)
|
|
|
NM_015443.4(KANSL1):c.2073C>G (p.Asn691Lys)
|
|
|
NM_015443.4(KANSL1):c.2089_2094del (p.Ile697_Lys698del)
|
|
|
NM_015443.4(KANSL1):c.2093A>G (p.Lys698Arg)
|
rs2077260533
|
|
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser)
|
rs1227525369
|
|
NM_015443.4(KANSL1):c.2102A>G (p.Lys701Arg)
|
|
|
NM_015443.4(KANSL1):c.2109A>T (p.Leu703Phe)
|
rs34101027
|
|
NM_015443.4(KANSL1):c.2122A>G (p.Arg708Gly)
|
rs2510500292
|
|
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
|
rs2077259076
|
|
NM_015443.4(KANSL1):c.2131A>G (p.Met711Val)
|
rs2510499788
|
|
NM_015443.4(KANSL1):c.2146C>A (p.Pro716Thr)
|
rs2510499373
|
|
NM_015443.4(KANSL1):c.2150A>G (p.Asp717Gly)
|
rs2146369181
|
|
NM_015443.4(KANSL1):c.2161A>G (p.Lys721Glu)
|
rs2146368894
|
|
NM_015443.4(KANSL1):c.2170C>A (p.His724Asn)
|
|
|
NM_015443.4(KANSL1):c.2170C>T (p.His724Tyr)
|
rs2510498839
|
|
NM_015443.4(KANSL1):c.2179G>A (p.Val727Ile)
|
rs2510498565
|
|
NM_015443.4(KANSL1):c.2194ACA[1] (p.Thr733del)
|
|
|
NM_015443.4(KANSL1):c.2197A>G (p.Thr733Ala)
|
rs80026189
|
|
NM_015443.4(KANSL1):c.2204-4T>A
|
|
|
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val)
|
rs1568374912
|
|
NM_015443.4(KANSL1):c.2220A>G (p.Gln740=)
|
rs1339429545
|
|
NM_015443.4(KANSL1):c.2225G>C (p.Arg742Pro)
|
rs752047149
|
|
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
|
rs796052596
|
|
NM_015443.4(KANSL1):c.2236A>T (p.Thr746Ser)
|
rs2510484649
|
|
NM_015443.4(KANSL1):c.2242A>G (p.Arg748Gly)
|
rs2510484389
|
|
NM_015443.4(KANSL1):c.2251T>G (p.Leu751Val)
|
rs2510484083
|
|
NM_015443.4(KANSL1):c.2284C>G (p.Arg762Gly)
|
rs2146363405
|
|
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met)
|
rs781594360
|
|
NM_015443.4(KANSL1):c.2288T>C (p.Val763Ala)
|
|
|
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser)
|
rs2077235740
|
|
NM_015443.4(KANSL1):c.2323C>T (p.Pro775Ser)
|
rs2510481882
|
|
NM_015443.4(KANSL1):c.2330C>A (p.Pro777His)
|
|
|
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu)
|
rs904766735
|
|
NM_015443.4(KANSL1):c.2344A>C (p.Asn782His)
|
rs761656788
|
|
NM_015443.4(KANSL1):c.2344A>T (p.Asn782Tyr)
|
|
|
NM_015443.4(KANSL1):c.2366G>A (p.Arg789Gln)
|
rs2146362190
|
|
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr)
|
rs2077233312
|
|
NM_015443.4(KANSL1):c.2392_2392+1dup
|
rs2510479806
|
|
NM_015443.4(KANSL1):c.2393-5T>C
|
|
|
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr)
|
rs1317184946
|
|
NM_015443.4(KANSL1):c.2423C>T (p.Ser808Leu)
|
rs372105810
|
|
NM_015443.4(KANSL1):c.2446C>T (p.His816Tyr)
|
rs1385276351
|
|
NM_015443.4(KANSL1):c.2447A>G (p.His816Arg)
|
rs2077222127
|
|
NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg)
|
rs200086055
|
|
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp)
|
rs758071565
|
|
NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)
|
rs1355589929
|
|
NM_015443.4(KANSL1):c.2462C>T (p.Pro821Leu)
|
rs1411153399
|
|
NM_015443.4(KANSL1):c.2467G>A (p.Val823Met)
|
|
|
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter)
|
rs779137465
|
|
NM_015443.4(KANSL1):c.2471G>A (p.Arg824Gln)
|
|
|
NM_015443.4(KANSL1):c.2476C>G (p.Leu826Val)
|
rs2510471721
|
|
NM_015443.4(KANSL1):c.2483C>T (p.Thr828Ile)
|
rs2077220546
|
|
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del)
|
rs1568373517
|
|
NM_015443.4(KANSL1):c.2495C>A (p.Ser832Tyr)
|
rs774750158
|
|
NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser)
|
rs2146357893
|
|
NM_015443.4(KANSL1):c.249_250del (p.Cys84fs)
|
|
|
NM_015443.4(KANSL1):c.2500G>A (p.Ala834Thr)
|
|
|
NM_015443.4(KANSL1):c.2500G>C (p.Ala834Pro)
|
|
|
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser)
|
rs1555733519
|
|
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile)
|
rs770500282
|
|
NM_015443.4(KANSL1):c.2514_2519dup (p.Ser840_Gln841insSerSer)
|
rs2510470487
|
|
NM_015443.4(KANSL1):c.2523G>C (p.Gln841His)
|
rs2077218805
|
|
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile)
|
rs758243969
|
|
NM_015443.4(KANSL1):c.2533A>G (p.Ser845Gly)
|
|
|
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn)
|
rs796052597
|
|
NM_015443.4(KANSL1):c.2541G>C (p.Ser847=)
|
rs200079722
|
|
NM_015443.4(KANSL1):c.2542-3C>G
|
|
|
NM_015443.4(KANSL1):c.2542-3C>T
|
rs2510407804
|
|
NM_015443.4(KANSL1):c.2552T>G (p.Val851Gly)
|
|
|
NM_015443.4(KANSL1):c.2563A>G (p.Arg855Gly)
|
|
|
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys)
|
rs2146325036
|
|
NM_015443.4(KANSL1):c.2570A>G (p.Glu857Gly)
|
|
|
NM_015443.4(KANSL1):c.2579_2580delinsGC (p.Phe860Cys)
|
rs2510407066
|
|
NM_015443.4(KANSL1):c.2581G>T (p.Asp861Tyr)
|
|
|
NM_015443.4(KANSL1):c.2591A>G (p.Asn864Ser)
|
rs2510406895
|
|
NM_015443.4(KANSL1):c.2611G>A (p.Val871Ile)
|
rs2510406424
|
|
NM_015443.4(KANSL1):c.2620A>G (p.Thr874Ala)
|
rs2510406242
|
|
NM_015443.4(KANSL1):c.2627G>A (p.Arg876His)
|
|
|
NM_015443.4(KANSL1):c.2648A>G (p.Lys883Arg)
|
rs2510405581
|
|
NM_015443.4(KANSL1):c.2666+3A>G
|
rs2146324420
|
|
NM_015443.4(KANSL1):c.2667-3C>T
|
rs766948021
|
|
NM_015443.4(KANSL1):c.2667-4dup
|
rs2077067052
|
|
NM_015443.4(KANSL1):c.2672G>A (p.Arg891Gln)
|
|
|
NM_015443.4(KANSL1):c.2680G>A (p.Asp894Asn)
|
rs2510394212
|
|
NM_015443.4(KANSL1):c.2681A>C (p.Asp894Ala)
|
|
|
NM_015443.4(KANSL1):c.268G>C (p.Val90Leu)
|
|
|
NM_015443.4(KANSL1):c.2705C>G (p.Pro902Arg)
|
rs2510393528
|
|
NM_015443.4(KANSL1):c.271C>T (p.Pro91Ser)
|
rs781684444
|
|
NM_015443.4(KANSL1):c.2720A>T (p.Glu907Val)
|
rs2146318320
|
|
NM_015443.4(KANSL1):c.2722G>A (p.Glu908Lys)
|
rs2146318272
|
|
NM_015443.4(KANSL1):c.2724+3A>G
|
|
|
NM_015443.4(KANSL1):c.2724+5T>G
|
rs1327945886
|
|
NM_015443.4(KANSL1):c.2747C>A (p.Ala916Asp)
|
|
|
NM_015443.4(KANSL1):c.2749T>G (p.Phe917Val)
|
rs1222748159
|
|
NM_015443.4(KANSL1):c.2752G>A (p.Ala918Thr)
|
rs752325882
|
|
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)
|
rs752325882
|
|
NM_015443.4(KANSL1):c.2752GCC[3] (p.Ala919_Leu920insAla)
|
rs2510387645
|
|
NM_015443.4(KANSL1):c.2762A>G (p.His921Arg)
|
rs1555731275
|
|
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu)
|
rs752219095
|
|
NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys)
|
rs2077056067
|
|
NM_015443.4(KANSL1):c.2810G>A (p.Ser937Asn)
|
|
|
NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu)
|
rs2510386888
|
|
NM_015443.4(KANSL1):c.2818C>G (p.Pro940Ala)
|
|
|
NM_015443.4(KANSL1):c.2824C>T (p.Arg942Trp)
|
|
|
NM_015443.4(KANSL1):c.2824CGG[1] (p.Arg943del)
|
|
|
NM_015443.4(KANSL1):c.2825G>A (p.Arg942Gln)
|
rs2146314710
|
|
NM_015443.4(KANSL1):c.2838-12C>T
|
|
|
NM_015443.4(KANSL1):c.2838-3C>T
|
rs2510373950
|
|
NM_015443.4(KANSL1):c.2849C>T (p.Ser950Leu)
|
|
|
NM_015443.4(KANSL1):c.2856C>A (p.Asp952Glu)
|
rs1431158114
|
|
NM_015443.4(KANSL1):c.2857G>A (p.Gly953Ser)
|
rs2510373170
|
|
NM_015443.4(KANSL1):c.2858G>A (p.Gly953Asp)
|
|
|
NM_015443.4(KANSL1):c.2872C>G (p.Gln958Glu)
|
rs147378906
|
|
NM_015443.4(KANSL1):c.2874G>C (p.Gln958His)
|
|
|
NM_015443.4(KANSL1):c.2876T>C (p.Leu959Pro)
|
|
|
NM_015443.4(KANSL1):c.2889C>G (p.Asn963Lys)
|
rs1322313910
|
|
NM_015443.4(KANSL1):c.2894C>G (p.Ser965Cys)
|
rs2510371664
|
|
NM_015443.4(KANSL1):c.2900C>T (p.Pro967Leu)
|
rs770177501
|
|
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg)
|
rs2077030679
|
|
NM_015443.4(KANSL1):c.290A>G (p.Lys97Arg)
|
|
|
NM_015443.4(KANSL1):c.2924G>A (p.Ser975Asn)
|
|
|
NM_015443.4(KANSL1):c.2940G>C (p.Leu980Phe)
|
rs2077029420
|
|
NM_015443.4(KANSL1):c.2951C>T (p.Ser984Phe)
|
|
|
NM_015443.4(KANSL1):c.2956G>A (p.Gly986Ser)
|
rs2146306880
|
|
NM_015443.4(KANSL1):c.2957G>C (p.Gly986Ala)
|
rs905710793
|
|
NM_015443.4(KANSL1):c.295C>G (p.Gln99Glu)
|
|
|
NM_015443.4(KANSL1):c.2965C>A (p.Pro989Thr)
|
|
|
NM_015443.4(KANSL1):c.2968A>G (p.Arg990Gly)
|
|
|
NM_015443.4(KANSL1):c.2980A>G (p.Ser994Gly)
|
rs2510368799
|
|
NM_015443.4(KANSL1):c.2993A>G (p.His998Arg)
|
rs2510368504
|
|
NM_015443.4(KANSL1):c.2998G>A (p.Ala1000Thr)
|
rs2510368396
|
|
NM_015443.4(KANSL1):c.3004C>T (p.Leu1002Phe)
|
rs2077027513
|
|
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs)
|
rs2146306274
|
|
NM_015443.4(KANSL1):c.3013G>A (p.Val1005Met)
|
|
|
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)
|
rs760506954
|
|
NM_015443.4(KANSL1):c.3028C>G (p.Pro1010Ala)
|
rs143018360
|
|
NM_015443.4(KANSL1):c.3032G>A (p.Arg1011Gln)
|
|
|
NM_015443.4(KANSL1):c.3050A>C (p.Asp1017Ala)
|
rs1568365844
|
|
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)
|
rs145863194
|
|
NM_015443.4(KANSL1):c.3079C>A (p.Leu1027Met)
|
rs1202646378
|
|
NM_015443.4(KANSL1):c.3090+19G>A
|
|
|
NM_015443.4(KANSL1):c.309C>G (p.Ser103Arg)
|
|
|
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys)
|
rs2146302096
|
|
NM_015443.4(KANSL1):c.3131A>G (p.His1044Arg)
|
|
|
NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His)
|
rs796052589
|
|
NM_015443.4(KANSL1):c.3146A>T (p.Glu1049Val)
|
rs771796347
|
|
NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg)
|
rs796052590
|
|
NM_015443.4(KANSL1):c.3155A>T (p.Asp1052Val)
|
rs2510354925
|
|
NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg)
|
rs1057523651
|
|
NM_015443.4(KANSL1):c.315G>T (p.Gln105His)
|
rs761904417
|
|
NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly)
|
rs2510354680
|
|
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)
|
rs2510354389
|
|
NM_015443.4(KANSL1):c.3172G>T (p.Glu1058Ter)
|
rs2510354236
|
|
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)
|
rs2077009798
|
|
NM_015443.4(KANSL1):c.3181G>A (p.Ala1061Thr)
|
|
|
NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys)
|
rs2077009434
|
|
NM_015443.4(KANSL1):c.3190A>C (p.Thr1064Pro)
|
|
|
NM_015443.4(KANSL1):c.3193C>G (p.Arg1065Gly)
|
rs2146300587
|
|
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
|
rs2146300587
|
|
NM_015443.4(KANSL1):c.31G>T (p.Ala11Ser)
|
|
|
NM_015443.4(KANSL1):c.3230_3231del (p.Glu1077fs)
|
|
|
NM_015443.4(KANSL1):c.3234dup (p.Ala1079fs)
|
|
|
NM_015443.4(KANSL1):c.3242C>G (p.Thr1081Ser)
|
rs2146299866
|
|
NM_015443.4(KANSL1):c.3259C>G (p.Pro1087Ala)
|
rs1353327053
|
|
NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe)
|
rs1276705475
|
|
NM_015443.4(KANSL1):c.3284C>T (p.Ala1095Val)
|
|
|
NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val)
|
rs529738082
|
|
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
|
rs2077005160
|
|
NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)
|
rs560719955
|
|
NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)
|
rs2510348752
|
|
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu)
|
rs796052598
|
|
NM_015443.4(KANSL1):c.3298C>T (p.Gln1100Ter)
|
|
|
NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)
|
rs2510348529
|
|
NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)
|
rs542543248
|
|
NM_015443.4(KANSL1):c.3311dup (p.His1104fs)
|
|
|
NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)
|
rs1241193511
|
|
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)
|
rs761370843
|
|
NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)
|
rs2510347978
|
|
NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys)
|
rs2545091876
|
|
NM_015443.4(KANSL1):c.348G>C (p.Gln116His)
|
rs746180917
|
|
NM_015443.4(KANSL1):c.361C>G (p.Arg121Gly)
|
rs868719408
|
|
NM_015443.4(KANSL1):c.361C>T (p.Arg121Ter)
|
|
|
NM_015443.4(KANSL1):c.385C>T (p.Pro129Ser)
|
rs2147748223
|
|
NM_015443.4(KANSL1):c.388G>A (p.Val130Ile)
|
rs766000368
|
|
NM_015443.4(KANSL1):c.400T>G (p.Ser134Ala)
|
|
|
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)
|
rs886053070
|
|
NM_015443.4(KANSL1):c.43G>C (p.Ala15Pro)
|
rs1395709730
|
|
NM_015443.4(KANSL1):c.440C>T (p.Thr147Ile)
|
|
|
NM_015443.4(KANSL1):c.445C>G (p.Leu149Val)
|
|
|
NM_015443.4(KANSL1):c.448C>A (p.Pro150Thr)
|
|
|
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val)
|
rs2046319479
|
|
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg)
|
rs796052600
|
|
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)
|
rs775582928
|
|
NM_015443.4(KANSL1):c.467G>A (p.Gly156Glu)
|
|
|
NM_015443.4(KANSL1):c.473C>T (p.Ala158Val)
|
|
|
NM_015443.4(KANSL1):c.491G>A (p.Ser164Asn)
|
|
|
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer)
|
rs2046298627
|
|
NM_015443.4(KANSL1):c.500A>C (p.His167Pro)
|
rs779594202
|
|
NM_015443.4(KANSL1):c.509A>G (p.His170Arg)
|
rs1038293188
|
|
NM_015443.4(KANSL1):c.515A>T (p.Asn172Ile)
|
rs942182430
|
|
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile)
|
rs2046297678
|
|
NM_015443.4(KANSL1):c.523T>C (p.Ser175Pro)
|
rs757028302
|
|
NM_015443.4(KANSL1):c.526C>T (p.Leu176Phe)
|
rs2046296742
|
|
NM_015443.4(KANSL1):c.529A>G (p.Asn177Asp)
|
rs1487207508
|
|
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs)
|
rs1567763809
|
|
NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu)
|
rs2046295807
|
|
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr)
|
rs1060502198
|
|
NM_015443.4(KANSL1):c.562C>T (p.Leu188Phe)
|
|
|
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp)
|
rs2046293564
|
|
NM_015443.4(KANSL1):c.577A>G (p.Met193Val)
|
rs2147744657
|
|
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr)
|
rs2147744627
|
|
NM_015443.4(KANSL1):c.584G>A (p.Gly195Glu)
|
rs757048501
|
|
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg)
|
rs138175526
|
|
NM_015443.4(KANSL1):c.608G>C (p.Gly203Ala)
|
rs759522694
|
|
NM_015443.4(KANSL1):c.611G>A (p.Gly204Asp)
|
|
|
NM_015443.4(KANSL1):c.613A>T (p.Met205Leu)
|
rs1236541973
|
|
NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser)
|
rs761141661
|
|
NM_015443.4(KANSL1):c.617C>T (p.Thr206Ile)
|
rs761141661
|
|
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile)
|
rs144882998
|
|
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)
|
rs745305837
|
|
NM_015443.4(KANSL1):c.631C>T (p.Pro211Ser)
|
|
|
NM_015443.4(KANSL1):c.635A>C (p.His212Pro)
|
rs141110759
|
|
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
|
rs2046288156
|
|
NM_015443.4(KANSL1):c.658A>C (p.Thr220Pro)
|
rs2046287355
|
|
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser)
|
rs2046287355
|
|
NM_015443.4(KANSL1):c.661A>G (p.Thr221Ala)
|
|
|
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
|
rs1428454868
|
|
NM_015443.4(KANSL1):c.680G>T (p.Ser227Ile)
|
rs150345690
|
|
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
|
rs770400570
|
|
NM_015443.4(KANSL1):c.696_698del (p.Ser233del)
|
|
|
NM_015443.4(KANSL1):c.700G>C (p.Val234Leu)
|
|
|
NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter)
|
rs780346743
|
|
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
|
rs142096969
|
|
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala)
|
rs778091394
|
|
NM_015443.4(KANSL1):c.740G>A (p.Arg247Lys)
|
rs1265436458
|
|
NM_015443.4(KANSL1):c.741A>T (p.Arg247Ser)
|
rs1881193
|
|
NM_015443.4(KANSL1):c.745T>A (p.Ser249Thr)
|
|
|
NM_015443.4(KANSL1):c.749C>G (p.Pro250Arg)
|
rs2545084038
|
|
NM_015443.4(KANSL1):c.749C>T (p.Pro250Leu)
|
rs2545084038
|
|
NM_015443.4(KANSL1):c.74C>T (p.Pro25Leu)
|
rs2545095977
|
|
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala)
|
rs780074451
|
|
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe)
|
rs2545083775
|
|
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn)
|
rs769994474
|
|
NM_015443.4(KANSL1):c.764G>T (p.Ser255Ile)
|
rs769994474
|
|
NM_015443.4(KANSL1):c.766T>C (p.Ser256Pro)
|
|
|
NM_015443.4(KANSL1):c.76T>A (p.Ser26Thr)
|
|
|
NM_015443.4(KANSL1):c.774G>C (p.Leu258Phe)
|
rs202232945
|
|
NM_015443.4(KANSL1):c.779dup (p.Val261fs)
|
rs748018297
|
|
NM_015443.4(KANSL1):c.803C>G (p.Ser268Cys)
|
|
|
NM_015443.4(KANSL1):c.808_816del (p.Leu270_Ser272del)
|
rs2046275378
|
|
NM_015443.4(KANSL1):c.812C>T (p.Ser271Phe)
|
rs1597872380
|
|
NM_015443.4(KANSL1):c.820C>G (p.Leu274Val)
|
|
|
NM_015443.4(KANSL1):c.823T>C (p.Phe275Leu)
|
rs1567762510
|
|
NM_015443.4(KANSL1):c.832T>G (p.Leu278Val)
|
rs777914291
|
|
NM_015443.4(KANSL1):c.836A>T (p.Asp279Val)
|
rs1567762446
|
|
NM_015443.4(KANSL1):c.879C>A (p.Asp293Glu)
|
|
|
NM_015443.4(KANSL1):c.893C>G (p.Ala298Gly)
|
rs149363799
|
|
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)
|
rs1189248208
|
|
NM_015443.4(KANSL1):c.909G>A (p.Lys303=)
|
|
|
NM_015443.4(KANSL1):c.917A>G (p.Gln306Arg)
|
rs2545081009
|
|
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile)
|
rs1201773079
|
|
NM_015443.4(KANSL1):c.926A>G (p.Gln309Arg)
|
rs2147737029
|
|
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg)
|
rs1555575305
|
|
NM_015443.4(KANSL1):c.937G>C (p.Val313Leu)
|
rs1340481051
|
|
NM_015443.4(KANSL1):c.950T>C (p.Ile317Thr)
|
rs2147736324
|
|
NM_015443.4(KANSL1):c.954A>T (p.Gln318His)
|
rs773332161
|
|
NM_015443.4(KANSL1):c.964G>A (p.Gly322Ser)
|
|
|
NM_015443.4(KANSL1):c.977AGA[1] (p.Lys327del)
|
|
|
NM_015443.4(KANSL1):c.979A>T (p.Lys327Ter)
|
rs2046265286
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
NM_015443.4(KANSL1):c.989G>A (p.Ser330Asn)
|
rs2147735832
|
|