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
|
0.00024
|
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.1261G>A (p.Ala421Thr)
|
rs150115249
|
0.00010
|
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)
|
rs771796347
|
0.00010
|
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly)
|
rs751709708
|
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.2441C>G (p.Thr814Ser)
|
rs757031050
|
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.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His)
|
rs760727599
|
0.00006
|
NM_015443.4(KANSL1):c.2128C>A (p.Pro710Thr)
|
rs550137256
|
0.00006
|
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys)
|
rs781582912
|
0.00006
|
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)
|
rs750012482
|
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.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.118G>A (p.Ala40Thr)
|
rs376632173
|
0.00004
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
0.00004
|
NM_015443.4(KANSL1):c.1848+3C>T
|
rs763185589
|
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.3056G>A (p.Arg1019His)
|
rs781056926
|
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.1856G>A (p.Arg619Gln)
|
rs1424923651
|
0.00003
|
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)
|
rs759914921
|
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.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.2111C>T (p.Ser704Leu)
|
rs762407803
|
0.00002
|
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)
|
rs773681267
|
0.00002
|
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg)
|
rs774020325
|
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.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.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.1270G>A (p.Glu424Lys)
|
rs780942888
|
0.00001
|
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His)
|
rs754111757
|
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.166G>A (p.Ala56Thr)
|
rs756625356
|
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.191G>A (p.Arg64Gln)
|
rs752415137
|
0.00001
|
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr)
|
rs768152581
|
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.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.277A>G (p.Lys93Glu)
|
rs752219095
|
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.2900C>A (p.Pro967His)
|
rs770177501
|
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.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.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.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.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.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.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.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.(?_44108822)_(44128090_?)dup
|
|
|
NC_000017.10:g.(?_44108822)_(44159928_?)dup
|
|
|
NC_000017.10:g.(?_44159787)_(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.-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)
|
|
|
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.110A>G (p.Asn37Ser)
|
rs769773348
|
|
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.1145G>A (p.Arg382Lys)
|
rs369920825
|
|
NM_015443.4(KANSL1):c.1154C>T (p.Ala385Val)
|
rs913316099
|
|
NM_015443.4(KANSL1):c.1165G>A (p.Ala389Thr)
|
|
|
NM_015443.4(KANSL1):c.1166C>T (p.Ala389Val)
|
rs368394693
|
|
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.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.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.1290-3dup
|
|
|
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp)
|
rs2146948079
|
|
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.1410C>A (p.Tyr470Ter)
|
rs776206707
|
|
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
|
|
|
NM_015443.4(KANSL1):c.1450G>A (p.Glu484Lys)
|
rs1173584837
|
|
NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu)
|
|
|
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys)
|
|
|
NM_015443.4(KANSL1):c.1480T>G (p.Leu494Val)
|
|
|
NM_015443.4(KANSL1):c.149A>G (p.Lys50Arg)
|
|
|
NM_015443.4(KANSL1):c.1525G>A (p.Asp509Asn)
|
|
|
NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly)
|
rs2146826344
|
|
NM_015443.4(KANSL1):c.1533+3A>G
|
rs1944843364
|
|
NM_015443.4(KANSL1):c.1541C>T (p.Ser514Phe)
|
|
|
NM_015443.4(KANSL1):c.1546T>A (p.Ser516Thr)
|
|
|
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.1568G>T (p.Gly523Val)
|
|
|
NM_015443.4(KANSL1):c.1576A>G (p.Ile526Val)
|
|
|
NM_015443.4(KANSL1):c.1579A>G (p.Ile527Val)
|
|
|
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)
|
|
|
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.1629A>T (p.Arg543Ser)
|
|
|
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.1676A>G (p.His559Arg)
|
rs886053069
|
|
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr)
|
rs759587635
|
|
NM_015443.4(KANSL1):c.1715A>G (p.His572Arg)
|
|
|
NM_015443.4(KANSL1):c.1727G>T (p.Arg576Leu)
|
|
|
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.1756G>A (p.Gly586Ser)
|
|
|
NM_015443.4(KANSL1):c.1760C>A (p.Thr587Asn)
|
rs2078387746
|
|
NM_015443.4(KANSL1):c.1765G>T (p.Val589Leu)
|
|
|
NM_015443.4(KANSL1):c.1768G>T (p.Ala590Ser)
|
|
|
NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr)
|
|
|
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.1781G>C (p.Arg594Pro)
|
rs1057520691
|
|
NM_015443.4(KANSL1):c.1796G>A (p.Cys599Tyr)
|
|
|
NM_015443.4(KANSL1):c.1799A>G (p.Lys600Arg)
|
|
|
NM_015443.4(KANSL1):c.1832T>C (p.Val611Ala)
|
|
|
NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val)
|
|
|
NM_015443.4(KANSL1):c.1848+6T>C
|
|
|
NM_015443.4(KANSL1):c.1849-3C>T
|
|
|
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.1871G>A (p.Arg624His)
|
|
|
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg)
|
|
|
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter)
|
|
|
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.1957C>G (p.Pro653Ala)
|
|
|
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.2002G>A (p.Val668Ile)
|
|
|
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala)
|
rs1446402549
|
|
NM_015443.4(KANSL1):c.2018A>G (p.Asp673Gly)
|
|
|
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.2040T>G (p.His680Gln)
|
|
|
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
|
|
|
NM_015443.4(KANSL1):c.2093A>G (p.Lys698Arg)
|
|
|
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)
|
|
|
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
|
rs2077259076
|
|
NM_015443.4(KANSL1):c.2131A>G (p.Met711Val)
|
|
|
NM_015443.4(KANSL1):c.2150A>G (p.Asp717Gly)
|
rs2146369181
|
|
NM_015443.4(KANSL1):c.2155G>C (p.Ala719Pro)
|
|
|
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.2197A>G (p.Thr733Ala)
|
rs80026189
|
|
NM_015443.4(KANSL1):c.2202C>G (p.Ala734=)
|
rs1555734069
|
|
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val)
|
rs1568374912
|
|
NM_015443.4(KANSL1):c.2225G>C (p.Arg742Pro)
|
|
|
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
|
rs796052596
|
|
NM_015443.4(KANSL1):c.2236A>T (p.Thr746Ser)
|
|
|
NM_015443.4(KANSL1):c.2242A>G (p.Arg748Gly)
|
|
|
NM_015443.4(KANSL1):c.2251T>G (p.Leu751Val)
|
|
|
NM_015443.4(KANSL1):c.2284C>G (p.Arg762Gly)
|
|
|
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met)
|
rs781594360
|
|
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>T (p.Pro777Leu)
|
rs904766735
|
|
NM_015443.4(KANSL1):c.2344A>C (p.Asn782His)
|
|
|
NM_015443.4(KANSL1):c.2366G>A (p.Arg789Gln)
|
|
|
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr)
|
rs2077233312
|
|
NM_015443.4(KANSL1):c.2392+3A>T
|
rs1568374384
|
|
NM_015443.4(KANSL1):c.2392_2392+1dup
|
|
|
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.2458A>G (p.Ser820Gly)
|
|
|
NM_015443.4(KANSL1):c.2462C>T (p.Pro821Leu)
|
rs1411153399
|
|
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter)
|
rs779137465
|
|
NM_015443.4(KANSL1):c.2476C>G (p.Leu826Val)
|
|
|
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)
|
|
|
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser)
|
rs1555733519
|
|
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.2540C>T (p.Ser847Leu)
|
|
|
NM_015443.4(KANSL1):c.2541G>C (p.Ser847=)
|
|
|
NM_015443.4(KANSL1):c.2542-3C>T
|
|
|
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys)
|
rs2146325036
|
|
NM_015443.4(KANSL1):c.2579_2580delinsGC (p.Phe860Cys)
|
|
|
NM_015443.4(KANSL1):c.2591A>G (p.Asn864Ser)
|
|
|
NM_015443.4(KANSL1):c.2611G>A (p.Val871Ile)
|
|
|
NM_015443.4(KANSL1):c.2620A>G (p.Thr874Ala)
|
|
|
NM_015443.4(KANSL1):c.2648A>G (p.Lys883Arg)
|
|
|
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met)
|
|
|
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.2680G>A (p.Asp894Asn)
|
|
|
NM_015443.4(KANSL1):c.2705C>G (p.Pro902Arg)
|
|
|
NM_015443.4(KANSL1):c.271C>T (p.Pro91Ser)
|
|
|
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.2740G>A (p.Asp914Asn)
|
|
|
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.2762A>G (p.His921Arg)
|
rs1555731275
|
|
NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys)
|
|
|
NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu)
|
|
|
NM_015443.4(KANSL1):c.2825G>A (p.Arg942Gln)
|
rs2146314710
|
|
NM_015443.4(KANSL1):c.2838-3C>T
|
|
|
NM_015443.4(KANSL1):c.2856C>A (p.Asp952Glu)
|
rs1431158114
|
|
NM_015443.4(KANSL1):c.2857G>A (p.Gly953Ser)
|
|
|
NM_015443.4(KANSL1):c.2872C>G (p.Gln958Glu)
|
|
|
NM_015443.4(KANSL1):c.2889C>G (p.Asn963Lys)
|
|
|
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.2906C>G (p.Pro969Arg)
|
rs2077030679
|
|
NM_015443.4(KANSL1):c.2940G>C (p.Leu980Phe)
|
|
|
NM_015443.4(KANSL1):c.2941T>C (p.Ser981Pro)
|
|
|
NM_015443.4(KANSL1):c.2956G>A (p.Gly986Ser)
|
rs2146306880
|
|
NM_015443.4(KANSL1):c.2957G>C (p.Gly986Ala)
|
|
|
NM_015443.4(KANSL1):c.2963C>A (p.Ser988Tyr)
|
|
|
NM_015443.4(KANSL1):c.2966C>G (p.Pro989Arg)
|
|
|
NM_015443.4(KANSL1):c.2980A>G (p.Ser994Gly)
|
|
|
NM_015443.4(KANSL1):c.2993A>G (p.His998Arg)
|
|
|
NM_015443.4(KANSL1):c.2998G>A (p.Ala1000Thr)
|
|
|
NM_015443.4(KANSL1):c.3004C>T (p.Leu1002Phe)
|
|
|
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs)
|
rs2146306274
|
|
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)
|
rs760506954
|
|
NM_015443.4(KANSL1):c.3028C>G (p.Pro1010Ala)
|
|
|
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.3105G>C (p.Trp1035Cys)
|
rs2146302096
|
|
NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His)
|
|
|
NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg)
|
rs796052590
|
|
NM_015443.4(KANSL1):c.3155A>T (p.Asp1052Val)
|
|
|
NM_015443.4(KANSL1):c.315G>T (p.Gln105His)
|
rs761904417
|
|
NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly)
|
|
|
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)
|
|
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NM_015443.4(KANSL1):c.3172G>T (p.Glu1058Ter)
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NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)
|
rs2077009798
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NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys)
|
rs2077009434
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|
NM_015443.4(KANSL1):c.3193C>G (p.Arg1065Gly)
|
rs2146300587
|
|
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
|
rs2146300587
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|
NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)
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NM_015443.4(KANSL1):c.3242C>G (p.Thr1081Ser)
|
rs2146299866
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NM_015443.4(KANSL1):c.3259C>G (p.Pro1087Ala)
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|
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NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe)
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|
|
NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp)
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|
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NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly)
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NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val)
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|
|
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
|
rs2077005160
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NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)
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|
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NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)
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|
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NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu)
|
rs796052598
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NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)
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|
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NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His)
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NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)
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NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)
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NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)
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NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)
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rs761370843
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NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)
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NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys)
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NM_015443.4(KANSL1):c.348G>C (p.Gln116His)
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NM_015443.4(KANSL1):c.361C>G (p.Arg121Gly)
|
rs868719408
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NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr)
|
rs528026295
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NM_015443.4(KANSL1):c.385C>T (p.Pro129Ser)
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|
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NM_015443.4(KANSL1):c.388G>A (p.Val130Ile)
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rs766000368
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NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp)
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rs1486873707
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NM_015443.4(KANSL1):c.403T>G (p.Leu135Val)
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rs1064797226
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NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)
|
rs886053070
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NM_015443.4(KANSL1):c.44C>T (p.Ala15Val)
|
rs2046319479
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NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg)
|
rs796052600
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|
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
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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)
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|
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NM_015443.4(KANSL1):c.531_540del (p.Gly179fs)
|
rs1567763809
|
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NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu)
|
rs2046295807
|
|
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr)
|
rs1060502198
|
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NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp)
|
rs2046318820
|
|
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.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.73C>G (p.Pro25Ala)
|
rs778091394
|
|
NM_015443.4(KANSL1):c.740G>A (p.Arg247Lys)
|
rs1265436458
|
|
NM_015443.4(KANSL1):c.741A>T (p.Arg247Ser)
|
|
|
NM_015443.4(KANSL1):c.749C>G (p.Pro250Arg)
|
|
|
NM_015443.4(KANSL1):c.749C>T (p.Pro250Leu)
|
|
|
NM_015443.4(KANSL1):c.74C>T (p.Pro25Leu)
|
|
|
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala)
|
rs780074451
|
|
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe)
|
|
|
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn)
|
rs769994474
|
|
NM_015443.4(KANSL1):c.764G>T (p.Ser255Ile)
|
|
|
NM_015443.4(KANSL1):c.774G>C (p.Leu258Phe)
|
rs202232945
|
|
NM_015443.4(KANSL1):c.779dup (p.Val261fs)
|
rs748018297
|
|
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.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.917A>G (p.Gln306Arg)
|
|
|
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile)
|
|
|
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.936G>C (p.Gln312His)
|
|
|
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.979A>T (p.Lys327Ter)
|
rs2046265286
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
NM_015443.4(KANSL1):c.986T>C (p.Leu329Ser)
|
|
|
NM_015443.4(KANSL1):c.989G>A (p.Ser330Asn)
|
rs2147735832
|
|