NC_000017.10:g.(?_44108822)_(44128090_?)dup
|
|
NC_000017.11:g.(?_46031456)_(46067687_?)dup
|
|
NC_000017.11:g.(?_46031456)_(46082562_?)del
|
|
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp)
|
rs112150341
|
NM_015443.4(KANSL1):c.1002C>G (p.Asn334Lys)
|
|
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=)
|
rs2240758
|
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser)
|
rs200997135
|
NM_015443.4(KANSL1):c.1020A>G (p.Pro340=)
|
|
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp)
|
rs373918467
|
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln)
|
rs371321182
|
NM_015443.4(KANSL1):c.1029G>A (p.Gln343=)
|
|
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys)
|
rs369793673
|
NM_015443.4(KANSL1):c.1042C>G (p.Arg348Gly)
|
rs1427624649
|
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)
|
rs1427624649
|
NM_015443.4(KANSL1):c.1046del (p.Lys349fs)
|
rs1567761585
|
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser)
|
rs1466777621
|
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=)
|
rs761810633
|
NM_015443.4(KANSL1):c.1074C>T (p.Ala358=)
|
|
NM_015443.4(KANSL1):c.1075A>C (p.Ser359Arg)
|
rs1309097254
|
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly)
|
rs1309097254
|
NM_015443.4(KANSL1):c.1080G>A (p.Glu360=)
|
rs1232525310
|
NM_015443.4(KANSL1):c.1083C>T (p.Thr361=)
|
|
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile)
|
rs775962610
|
NM_015443.4(KANSL1):c.1092A>C (p.Ser364=)
|
|
NM_015443.4(KANSL1):c.1093G>A (p.Glu365Lys)
|
rs2046257372
|
NM_015443.4(KANSL1):c.1095G>A (p.Glu365=)
|
|
NM_015443.4(KANSL1):c.1104C>G (p.Ser368Arg)
|
rs746438012
|
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser)
|
rs139564524
|
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=)
|
rs62639965
|
NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr)
|
rs747621748
|
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu)
|
rs142696045
|
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val)
|
rs754713192
|
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
|
rs770738115
|
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln)
|
rs779968528
|
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.1157G>T (p.Ser386Ile)
|
rs143589497
|
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.117C>T (p.Asn39=)
|
rs747136051
|
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly)
|
rs751709708
|
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=)
|
rs199820469
|
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter)
|
rs796052603
|
NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu)
|
rs149302199
|
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr)
|
rs138565467
|
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr)
|
rs376632173
|
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser)
|
rs142587760
|
NM_015443.4(KANSL1):c.1230G>A (p.Glu410=)
|
rs777308407
|
NM_015443.4(KANSL1):c.1250A>G (p.Glu417Gly)
|
rs2046249754
|
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala)
|
rs778528850
|
NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser)
|
rs1597870423
|
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val)
|
rs191058987
|
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=)
|
rs750165871
|
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys)
|
rs780942888
|
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys)
|
rs757224600
|
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro)
|
rs764291274
|
NM_015443.4(KANSL1):c.1280A>G (p.His427Arg)
|
rs1166960320
|
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu)
|
rs1166960320
|
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr)
|
rs142062936
|
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
|
|
NM_015443.4(KANSL1):c.1294C>T (p.Arg432Cys)
|
rs755296202
|
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His)
|
rs754111757
|
NM_015443.4(KANSL1):c.12G>A (p.Met4Ile)
|
rs146472353
|
NM_015443.4(KANSL1):c.1305A>G (p.Glu435=)
|
|
NM_015443.4(KANSL1):c.1318G>A (p.Ala440Thr)
|
rs1240185267
|
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs)
|
|
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His)
|
rs760727599
|
NM_015443.4(KANSL1):c.1350C>G (p.Asn450Lys)
|
|
NM_015443.4(KANSL1):c.1374C>T (p.Asp458=)
|
|
NM_015443.4(KANSL1):c.1402G>C (p.Asp468His)
|
rs745576981
|
NM_015443.4(KANSL1):c.1404C>T (p.Asp468=)
|
|
NM_015443.4(KANSL1):c.1407T>C (p.Ile469=)
|
|
NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs)
|
|
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys)
|
|
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His)
|
rs770719196
|
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr)
|
rs547462953
|
NM_015443.4(KANSL1):c.1432-4G>A
|
rs749329088
|
NM_015443.4(KANSL1):c.1452G>A (p.Glu484=)
|
|
NM_015443.4(KANSL1):c.1461C>G (p.Pro487=)
|
|
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs)
|
rs1555753569
|
NM_015443.4(KANSL1):c.1469A>C (p.His490Pro)
|
|
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)
|
rs17576165
|
NM_015443.4(KANSL1):c.1503G>A (p.Glu501=)
|
|
NM_015443.4(KANSL1):c.1512A>G (p.Thr504=)
|
rs1483287405
|
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn)
|
rs375555532
|
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu)
|
rs527948436
|
NM_015443.4(KANSL1):c.1533+3A>G
|
rs1944843364
|
NM_015443.4(KANSL1):c.1533+9A>G
|
|
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu)
|
rs2078430687
|
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr)
|
rs1598530886
|
NM_015443.4(KANSL1):c.1565A>G (p.His522Arg)
|
rs587625643
|
NM_015443.4(KANSL1):c.1568G>C (p.Gly523Ala)
|
rs1568411157
|
NM_015443.4(KANSL1):c.1574= (p.Pro525=)
|
|
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg)
|
rs144838667
|
NM_015443.4(KANSL1):c.1590T>A (p.Ile530=)
|
rs151329554
|
NM_015443.4(KANSL1):c.1599A>G (p.Ser533=)
|
rs1555746340
|
NM_015443.4(KANSL1):c.159C>T (p.Ala53=)
|
|
NM_015443.4(KANSL1):c.15G>A (p.Ala5=)
|
|
NM_015443.4(KANSL1):c.1600C>G (p.Leu534Val)
|
rs1385195592
|
NM_015443.4(KANSL1):c.1605T>C (p.Ser535=)
|
rs200561483
|
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu)
|
rs142435060
|
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr)
|
rs776741181
|
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His)
|
rs796052593
|
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp)
|
rs1555746270
|
NM_015443.4(KANSL1):c.164C>T (p.Ala55Val)
|
rs1213319847
|
NM_015443.4(KANSL1):c.1652+10A>C
|
|
NM_015443.4(KANSL1):c.1652+1G>A
|
rs281865470
|
NM_015443.4(KANSL1):c.1652+8T>G
|
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
NM_015443.4(KANSL1):c.1653-10C>G
|
rs199642265
|
NM_015443.4(KANSL1):c.1653-3T>G
|
|
NM_015443.4(KANSL1):c.1653-6G>A
|
rs369261388
|
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile)
|
rs144337302
|
NM_015443.4(KANSL1):c.1657_1658insTTGTAT (p.Gln553delinsLeuValTer)
|
|
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr)
|
rs756625356
|
NM_015443.4(KANSL1):c.1671A>G (p.Ala557=)
|
rs769241683
|
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val)
|
rs551923672
|
NM_015443.4(KANSL1):c.1676A>G (p.His559Arg)
|
rs886053069
|
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=)
|
rs113557856
|
NM_015443.4(KANSL1):c.1707A>G (p.Glu569=)
|
|
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr)
|
rs759587635
|
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile)
|
rs117412152
|
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe)
|
rs544459109
|
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg)
|
rs2078387202
|
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.1783C>G (p.Pro595Ala)
|
rs947698008
|
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg)
|
rs749811911
|
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)
|
rs281865469
|
NM_015443.4(KANSL1):c.181C>A (p.Leu61Ile)
|
rs1567764831
|
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
|
rs138698439
|
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)
|
rs150800846
|
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile)
|
rs202150313
|
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=)
|
rs1598526728
|
NM_015443.4(KANSL1):c.1848+3C>T
|
rs763185589
|
NM_015443.4(KANSL1):c.1848+4G>A
|
rs766458949
|
NM_015443.4(KANSL1):c.1848+7A>G
|
|
NM_015443.4(KANSL1):c.1849-26_1871del
|
|
NM_015443.4(KANSL1):c.1849-4661_1895del
|
|
NM_015443.4(KANSL1):c.1849-4A>G
|
|
NM_015443.4(KANSL1):c.1849-6T>A
|
|
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp)
|
rs141298741
|
NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln)
|
rs1424923651
|
NM_015443.4(KANSL1):c.1857G>C (p.Arg619=)
|
|
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=)
|
rs191986791
|
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)
|
rs200979425
|
NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)
|
rs567178302
|
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser)
|
rs567178302
|
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val)
|
rs767702173
|
NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs)
|
rs281865472
|
NM_015443.4(KANSL1):c.1870C>T (p.Arg624Cys)
|
rs368180304
|
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
|
|
NM_015443.4(KANSL1):c.18C>T (p.Pro6=)
|
|
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr)
|
rs145938212
|
NM_015443.4(KANSL1):c.1902A>G (p.Ala634=)
|
rs757691368
|
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser)
|
rs752154509
|
NM_015443.4(KANSL1):c.190C>A (p.Arg64=)
|
|
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln)
|
rs752415137
|
NM_015443.4(KANSL1):c.1921A>G (p.Ile641Val)
|
|
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu)
|
rs796052585
|
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=)
|
rs371047711
|
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys)
|
rs777228945
|
NM_015443.4(KANSL1):c.1970G>A (p.Arg657His)
|
rs2077676783
|
NM_015443.4(KANSL1):c.1989T>C (p.Ser663=)
|
rs368175458
|
NM_015443.4(KANSL1):c.1993G>A (p.Val665Ile)
|
rs1180495776
|
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr)
|
rs768152581
|
NM_015443.4(KANSL1):c.2021-3C>T
|
rs2077262439
|
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
|
rs2046311790
|
NM_015443.4(KANSL1):c.2033G>A (p.Ser678Asn)
|
rs1555734253
|
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser)
|
rs1227525369
|
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn)
|
rs371108710
|
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=)
|
rs34101027
|
NM_015443.4(KANSL1):c.2109A>T (p.Leu703Phe)
|
rs34101027
|
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro)
|
rs202231419
|
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)
|
|
NM_015443.4(KANSL1):c.2112G>A (p.Ser704=)
|
|
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
|
rs2077259076
|
NM_015443.4(KANSL1):c.2132dup (p.Met711fs)
|
rs1555734136
|
NM_015443.4(KANSL1):c.2135C>T (p.Pro712Leu)
|
rs549189483
|
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=)
|
rs2277613
|
NM_015443.4(KANSL1):c.2139C>A (p.Gly713=)
|
|
NM_015443.4(KANSL1):c.213C>T (p.Asp71=)
|
rs1041951554
|
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro)
|
rs34043286
|
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
|
rs376233499
|
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His)
|
rs148825937
|
NM_015443.4(KANSL1):c.2190C>T (p.Phe730=)
|
rs145434865
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val)
|
rs1568374912
|
NM_015443.4(KANSL1):c.2210C>T (p.Ser737Phe)
|
|
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp)
|
rs150282556
|
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)
|
rs752047149
|
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His)
|
rs200103894
|
NM_015443.4(KANSL1):c.2238C>T (p.Thr746=)
|
|
NM_015443.4(KANSL1):c.2255A>G (p.Asp752Gly)
|
|
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)
|
rs760224197
|
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met)
|
rs773184800
|
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)
|
rs761904173
|
NM_015443.4(KANSL1):c.2265G>A (p.Gly755=)
|
|
NM_015443.4(KANSL1):c.2268C>T (p.Ala756=)
|
rs530885936
|
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met)
|
rs749337566
|
NM_015443.4(KANSL1):c.2271G>A (p.Val757=)
|
rs1598456648
|
NM_015443.4(KANSL1):c.2285G>A (p.Arg762Gln)
|
|
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met)
|
|
NM_015443.4(KANSL1):c.228A>G (p.Gln76=)
|
|
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val)
|
rs151099014
|
NM_015443.4(KANSL1):c.2298A>G (p.Pro766=)
|
rs367624499
|
NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys)
|
rs778213372
|
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His)
|
rs144377285
|
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser)
|
|
NM_015443.4(KANSL1):c.2322A>G (p.Pro774=)
|
rs765777662
|
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu)
|
rs904766735
|
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=)
|
rs139663254
|
NM_015443.4(KANSL1):c.2332G>C (p.Val778Leu)
|
rs1472029797
|
NM_015443.4(KANSL1):c.2362T>C (p.Leu788=)
|
|
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr)
|
rs2077233312
|
NM_015443.4(KANSL1):c.2392+3A>T
|
rs1568374384
|
NM_015443.4(KANSL1):c.2393-9C>A
|
rs1004017370
|
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)
|
rs773681267
|
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr)
|
rs201526313
|
NM_015443.4(KANSL1):c.2417G>A (p.Ser806Asn)
|
rs539976549
|
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr)
|
|
NM_015443.4(KANSL1):c.2424G>A (p.Ser808=)
|
rs570967215
|
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)
|
rs757031050
|
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg)
|
rs2077222371
|
NM_015443.4(KANSL1):c.2446C>T (p.His816Tyr)
|
rs1385276351
|
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp)
|
rs758071565
|
NM_015443.4(KANSL1):c.2463C>T (p.Pro821=)
|
|
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val)
|
rs754877424
|
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter)
|
rs779137465
|
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)
|
rs143653891
|
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del)
|
rs1568373517
|
NM_015443.4(KANSL1):c.249C>G (p.Leu83=)
|
|
NM_015443.4(KANSL1):c.249C>T (p.Leu83=)
|
|
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=)
|
rs749802464
|
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser)
|
rs1555733519
|
NM_015443.4(KANSL1):c.2505C>T (p.Pro835=)
|
|
NM_015443.4(KANSL1):c.2506G>A (p.Ala836Thr)
|
rs935626079
|
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly)
|
rs776349500
|
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile)
|
rs770500282
|
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile)
|
rs758243969
|
NM_015443.4(KANSL1):c.2541G>A (p.Ser847=)
|
rs200079722
|
NM_015443.4(KANSL1):c.2542-1G>A
|
|
NM_015443.4(KANSL1):c.2547G>A (p.Gln849=)
|
rs763362339
|
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=)
|
rs17574604
|
NM_015443.4(KANSL1):c.2591del (p.Asn864fs)
|
rs2077088526
|
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=)
|
rs149756887
|
NM_015443.4(KANSL1):c.2640G>A (p.Leu880=)
|
rs773932947
|
NM_015443.4(KANSL1):c.2643A>G (p.Gln881=)
|
rs749039030
|
NM_015443.4(KANSL1):c.2673G>A (p.Arg891=)
|
|
NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile)
|
rs1057523139
|
NM_015443.4(KANSL1):c.267T>C (p.Ser89=)
|
rs756494221
|
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val)
|
rs555819683
|
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs)
|
rs2077066093
|
NM_015443.4(KANSL1):c.2694G>A (p.Leu898=)
|
|
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg)
|
rs74867664
|
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
|
rs551968687
|
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys)
|
rs139615350
|
NM_015443.4(KANSL1):c.2724+5T>G
|
rs1327945886
|
NM_015443.4(KANSL1):c.2724+8C>T
|
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
NM_015443.4(KANSL1):c.2734C>T (p.Leu912=)
|
|
NM_015443.4(KANSL1):c.2739C>T (p.Ser913=)
|
|
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr)
|
rs756685224
|
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)
|
|
NM_015443.4(KANSL1):c.2754C>T (p.Ala918=)
|
|
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr)
|
rs776547113
|
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu)
|
rs752219095
|
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)
|
rs281865471
|
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
|
rs1400431996
|
NM_015443.4(KANSL1):c.2808G>A (p.Thr936=)
|
rs372559911
|
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu)
|
rs774259324
|
NM_015443.4(KANSL1):c.2837+2T>C
|
rs975947508
|
NM_015443.4(KANSL1):c.2837+7G>T
|
rs780476310
|
NM_015443.4(KANSL1):c.2838-6G>T
|
rs1555730956
|
NM_015443.4(KANSL1):c.2838-8G>A
|
|
NM_015443.4(KANSL1):c.2838-8G>T
|
|
NM_015443.4(KANSL1):c.2838-9G>T
|
|
NM_015443.4(KANSL1):c.2856C>T (p.Asp952=)
|
rs1431158114
|
NM_015443.4(KANSL1):c.286T>C (p.Leu96=)
|
rs140268765
|
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser)
|
rs1315792143
|
NM_015443.4(KANSL1):c.2893T>C (p.Ser965Pro)
|
rs1291308469
|
NM_015443.4(KANSL1):c.2897C>T (p.Thr966Ile)
|
rs763252158
|
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)
|
rs2077030838
|
NM_015443.4(KANSL1):c.2913C>A (p.Ser971=)
|
rs781514778
|
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs)
|
rs1568366050
|
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=)
|
rs146848167
|
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=)
|
rs767403167
|
NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter)
|
|
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)
|
rs754727332
|
NM_015443.4(KANSL1):c.297A>G (p.Gln99=)
|
rs34801822
|
NM_015443.4(KANSL1):c.2984C>T (p.Pro995Leu)
|
rs761819132
|
NM_015443.4(KANSL1):c.298G>C (p.Gly100Arg)
|
rs766155678
|
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)
|
rs1037585739
|
NM_015443.4(KANSL1):c.300G>A (p.Gly100=)
|
|
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)
|
|
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs)
|
|
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser)
|
rs1286813277
|
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)
|
rs760506954
|
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro)
|
rs777045712
|
NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=)
|
rs748843892
|
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)
|
rs779686052
|
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)
|
rs138490347
|
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)
|
rs2077025601
|
NM_015443.4(KANSL1):c.3050A>C (p.Asp1017Ala)
|
rs1568365844
|
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)
|
rs145863194
|
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)
|
rs145863194
|
NM_015443.4(KANSL1):c.3054C>T (p.Thr1018=)
|
|
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)
|
rs781056926
|
NM_015443.4(KANSL1):c.3057T>C (p.Arg1019=)
|
rs1598441174
|
NM_015443.4(KANSL1):c.3090+10G>A
|
|
NM_015443.4(KANSL1):c.3091-10C>T
|
rs199901217
|
NM_015443.4(KANSL1):c.3091-3C>T
|
rs374360315
|
NM_015443.4(KANSL1):c.3094G>C (p.Val1032Leu)
|
rs767917046
|
NM_015443.4(KANSL1):c.30C>T (p.Asp10=)
|
rs200649587
|
NM_015443.4(KANSL1):c.3110G>A (p.Arg1037Gln)
|
rs762427291
|
NM_015443.4(KANSL1):c.3116C>T (p.Thr1039Ile)
|
rs1444239074
|
NM_015443.4(KANSL1):c.311A>C (p.Lys104Thr)
|
rs17585974
|
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=)
|
rs960036500
|
NM_015443.4(KANSL1):c.3125del (p.Leu1042fs)
|
rs797045049
|
NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val)
|
rs1194713411
|
NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)
|
|
NM_015443.4(KANSL1):c.3139C>G (p.Gln1047Glu)
|
|
NM_015443.4(KANSL1):c.3143C>T (p.Ala1048Val)
|
rs200719065
|
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)
|
rs771796347
|
NM_015443.4(KANSL1):c.3154G>A (p.Asp1052Asn)
|
rs1037675968
|
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala)
|
rs371450753
|
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)
|
rs201083879
|
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.3185G>A (p.Arg1062His)
|
rs768018906
|
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys)
|
rs1259929847
|
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln)
|
rs763541067
|
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val)
|
rs370112084
|
NM_015443.4(KANSL1):c.3245C>T (p.Ser1082Leu)
|
rs749241540
|
NM_015443.4(KANSL1):c.3258C>T (p.Val1086=)
|
|
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=)
|
rs370904425
|
NM_015443.4(KANSL1):c.3272G>A (p.Arg1091Gln)
|
rs752029022
|
NM_015443.4(KANSL1):c.3275A>G (p.His1092Arg)
|
rs963795454
|
NM_015443.4(KANSL1):c.3279G>T (p.Leu1093=)
|
rs1404523701
|
NM_015443.4(KANSL1):c.327A>G (p.Lys109=)
|
rs749575109
|
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
|
rs2077005160
|
NM_015443.4(KANSL1):c.3294A>T (p.Thr1098=)
|
|
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)
|
rs143746890
|
NM_015443.4(KANSL1):c.33A>G (p.Ala11=)
|
|
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys)
|
rs781582912
|
NM_015443.4(KANSL1):c.360C>A (p.Leu120=)
|
|
NM_015443.4(KANSL1):c.362G>A (p.Arg121Gln)
|
rs747500833
|
NM_015443.4(KANSL1):c.372G>A (p.Leu124=)
|
|
NM_015443.4(KANSL1):c.372G>T (p.Leu124=)
|
|
NM_015443.4(KANSL1):c.387A>G (p.Pro129=)
|
rs753493307
|
NM_015443.4(KANSL1):c.388G>A (p.Val130Ile)
|
rs766000368
|
NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp)
|
rs1486873707
|
NM_015443.4(KANSL1):c.406G>C (p.Glu136Gln)
|
rs2046302554
|
NM_015443.4(KANSL1):c.414T>G (p.Leu138=)
|
rs17662889
|
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)
|
|
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)
|
rs140089320
|
NM_015443.4(KANSL1):c.449del (p.Pro150fs)
|
rs1567764119
|
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.468G>C (p.Gly156=)
|
rs150877831
|
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn)
|
rs188294801
|
NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu)
|
rs747586763
|
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer)
|
rs2046298627
|
NM_015443.4(KANSL1):c.498A>C (p.Thr166=)
|
rs141491325
|
NM_015443.4(KANSL1):c.500A>G (p.His167Arg)
|
rs779594202
|
NM_015443.4(KANSL1):c.501_511dup (p.Asp171fs)
|
|
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.518C>T (p.Ser173Phe)
|
rs750012482
|
NM_015443.4(KANSL1):c.525C>T (p.Ser175=)
|
rs148321376
|
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser)
|
rs765213873
|
NM_015443.4(KANSL1):c.531T>C (p.Asn177=)
|
rs759846708
|
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs)
|
rs1567763809
|
NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu)
|
rs2046295807
|
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr)
|
rs1060502198
|
NM_015443.4(KANSL1):c.540del (p.Lys180fs)
|
rs1597874008
|
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)
|
rs375225315
|
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln)
|
rs771481251
|
NM_015443.4(KANSL1):c.543G>T (p.Arg181=)
|
|
NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn)
|
rs1366986871
|
NM_015443.4(KANSL1):c.555A>C (p.Ser185=)
|
|
NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp)
|
rs2046318820
|
NM_015443.4(KANSL1):c.566A>T (p.His189Leu)
|
|
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp)
|
rs2046293564
|
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln)
|
rs767960522
|
NM_015443.4(KANSL1):c.570G>A (p.Gly190=)
|
rs1365962710
|
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)
|
rs149566146
|
NM_015443.4(KANSL1):c.572del (p.Gly191fs)
|
rs1555575816
|
NM_015443.4(KANSL1):c.577A>G (p.Met193Val)
|
|
NM_015443.4(KANSL1):c.584G>A (p.Gly195Glu)
|
rs757048501
|
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg)
|
rs138175526
|
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)
|
rs138175526
|
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
|
|
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val)
|
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.619A>G (p.Asn207Asp)
|
rs372601814
|
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)
|
rs144882998
|
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile)
|
rs144882998
|
NM_015443.4(KANSL1):c.625A>G (p.Thr209Ala)
|
rs1301400639
|
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)
|
rs745305837
|
NM_015443.4(KANSL1):c.635A>G (p.His212Arg)
|
rs141110759
|
NM_015443.4(KANSL1):c.641G>A (p.Ser214Asn)
|
rs746645554
|
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
|
rs2046288156
|
NM_015443.4(KANSL1):c.652G>C (p.Glu218Gln)
|
rs1268624539
|
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.662C>T (p.Thr221Ile)
|
rs17662853
|
NM_015443.4(KANSL1):c.665T>C (p.Leu222Ser)
|
rs1297046144
|
NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp)
|
rs35643216
|
NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser)
|
rs766543331
|
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
|
rs1428454868
|
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)
|
rs150345690
|
NM_015443.4(KANSL1):c.680G>T (p.Ser227Ile)
|
rs150345690
|
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp)
|
rs34756740
|
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
|
rs770400570
|
NM_015443.4(KANSL1):c.696C>T (p.Ser232=)
|
rs1881194
|
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala)
|
rs199948200
|
NM_015443.4(KANSL1):c.702C>A (p.Val234=)
|
rs1057521846
|
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro)
|
rs747832991
|
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
|
rs778942078
|
NM_015443.4(KANSL1):c.714A>G (p.Glu238=)
|
|
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu)
|
rs767565501
|
NM_015443.4(KANSL1):c.723A>G (p.Ala241=)
|
rs375054119
|
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)
|
rs142096969
|
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
|
|
NM_015443.4(KANSL1):c.729A>G (p.Gln243=)
|
|
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly)
|
rs141969887
|
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>G (p.Arg247=)
|
rs1881193
|
NM_015443.4(KANSL1):c.744A>G (p.Leu248=)
|
rs748000142
|
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn)
|
rs769994474
|
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe)
|
rs537773238
|
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)
|
rs145714368
|
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
|
|
NM_015443.4(KANSL1):c.779G>T (p.Gly260Val)
|
rs758752787
|
NM_015443.4(KANSL1):c.783C>G (p.Val261=)
|
rs1555575518
|
NM_015443.4(KANSL1):c.787T>C (p.Leu263=)
|
|
NM_015443.4(KANSL1):c.800A>G (p.Lys267Arg)
|
rs140181991
|
NM_015443.4(KANSL1):c.802T>C (p.Ser268Pro)
|
rs767021119
|
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser)
|
rs200903841
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
NM_015443.4(KANSL1):c.810G>A (p.Leu270=)
|
|
NM_015443.4(KANSL1):c.812C>T (p.Ser271Phe)
|
rs1597872380
|
NM_015443.4(KANSL1):c.819T>A (p.Ile273=)
|
|
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.837T>C (p.Asp279=)
|
|
NM_015443.4(KANSL1):c.843C>T (p.Asp281=)
|
rs753023870
|
NM_015443.4(KANSL1):c.849G>A (p.Arg283=)
|
rs754362361
|
NM_015443.4(KANSL1):c.84C>T (p.Thr28=)
|
|
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)
|
rs766991003
|
NM_015443.4(KANSL1):c.865C>T (p.Arg289Trp)
|
rs373759089
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
NM_015443.4(KANSL1):c.869G>A (p.Arg290Gln)
|
rs775473139
|
NM_015443.4(KANSL1):c.876del (p.Asp293fs)
|
rs1597872089
|
NM_015443.4(KANSL1):c.878del (p.Asp293fs)
|
rs1555575405
|
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr)
|
rs747048362
|
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn)
|
rs1435339492
|
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys)
|
rs772236084
|
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys)
|
rs755353984
|
NM_015443.4(KANSL1):c.896G>A (p.Arg299His)
|
rs201785695
|
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly)
|
rs780539765
|
NM_015443.4(KANSL1):c.900A>G (p.Arg300=)
|
|
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)
|
rs1189248208
|
NM_015443.4(KANSL1):c.907A>G (p.Lys303Glu)
|
rs1263813959
|
NM_015443.4(KANSL1):c.910C>T (p.Arg304Cys)
|
rs756749550
|
NM_015443.4(KANSL1):c.912C>T (p.Arg304=)
|
rs1175646397
|
NM_015443.4(KANSL1):c.913T>C (p.Leu305=)
|
rs751030588
|
NM_015443.4(KANSL1):c.915A>G (p.Leu305=)
|
|
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)
|
rs281865468
|
NM_015443.4(KANSL1):c.930C>G (p.Ala310=)
|
|
NM_015443.4(KANSL1):c.930C>T (p.Ala310=)
|
rs763673329
|
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg)
|
rs1555575305
|
NM_015443.4(KANSL1):c.937G>C (p.Val313Leu)
|
|
NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp)
|
rs765182404
|
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val)
|
rs139843442
|
NM_015443.4(KANSL1):c.951A>G (p.Ile317Met)
|
rs776437091
|
NM_015443.4(KANSL1):c.954A>G (p.Gln318=)
|
rs773332161
|
NM_015443.4(KANSL1):c.963G>A (p.Leu321=)
|
rs772111208
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
NM_015443.4(KANSL1):c.985_995del (p.Leu329fs)
|
rs1057518659
|
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)
|
rs570475423
|
NM_015443.4(KANSL1):c.999A>G (p.Pro333=)
|
|