NM_000083.3(CLCN1):c.1167-141G>T
|
rs2367941
|
0.87709
|
NM_000083.3(CLCN1):c.1065-108G>A
|
rs2242493
|
0.63143
|
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)
|
rs2272251
|
0.44456
|
NM_000083.3(CLCN1):c.1583-117A>G
|
rs2293365
|
0.44345
|
NM_000083.3(CLCN1):c.1796+76A>G
|
rs940864
|
0.44317
|
NM_000083.3(CLCN1):c.1402-28G>A
|
rs2272253
|
0.44267
|
NM_000083.3(CLCN1):c.2285-65G>C
|
rs2242492
|
0.44045
|
NM_000083.3(CLCN1):c.1931-293C>A
|
rs4726609
|
0.43513
|
NM_000083.3(CLCN1):c.433+72C>G
|
rs7800971
|
0.43455
|
NM_000083.2(CLCN1):c.-135T>G
|
rs6464541
|
0.40122
|
NM_000083.3(CLCN1):c.2284+33C>G
|
rs56680997
|
0.39032
|
NM_000083.3(CLCN1):c.1401+180C>A
|
rs2016450
|
0.29539
|
NM_000083.3(CLCN1):c.774+146T>C
|
rs2272257
|
0.23123
|
NM_000083.3(CLCN1):c.774+170G>A
|
rs2272256
|
0.22335
|
NM_000083.3(CLCN1):c.1930+182G>A
|
rs62471044
|
0.19694
|
NM_000083.3(CLCN1):c.301+27T>A
|
rs6948526
|
0.15429
|
NM_000083.3(CLCN1):c.2365-102C>T
|
rs2242490
|
0.12853
|
NM_000083.3(CLCN1):c.2365-114A>G
|
rs2242491
|
0.12846
|
NM_000083.3(CLCN1):c.2172+128A>G
|
rs45554138
|
0.12796
|
NM_000083.3(CLCN1):c.2365-65T>C
|
rs2242489
|
0.09617
|
NM_000083.3(CLCN1):c.1582+66T>C
|
rs34219073
|
0.07271
|
NM_000083.3(CLCN1):c.2404-90C>T
|
rs41277416
|
0.05106
|
NM_000083.3(CLCN1):c.563-23A>T
|
rs41276048
|
0.05101
|
NM_000083.3(CLCN1):c.2364+67G>A
|
rs77994621
|
0.03187
|
NM_000083.3(CLCN1):c.1166+204T>C
|
rs55910546
|
0.03092
|
NM_000083.3(CLCN1):c.2172+172A>G
|
rs75189021
|
0.02200
|
NM_000083.3(CLCN1):c.1930+108T>C
|
rs17381401
|
0.02190
|
NM_000083.3(CLCN1):c.2595+216C>T
|
rs189876438
|
0.02027
|
NM_000083.3(CLCN1):c.302-61A>T
|
rs115234160
|
0.02000
|
NM_000083.3(CLCN1):c.2365-126G>A
|
rs73172436
|
0.01820
|
NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_000083.3(CLCN1):c.853+214G>T
|
rs73726617
|
0.01382
|
NM_000083.3(CLCN1):c.775-268A>T
|
rs73726616
|
0.01296
|
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg)
|
rs111482384
|
0.01028
|
NM_000083.3(CLCN1):c.2596-312T>C
|
rs73172438
|
0.00946
|
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=)
|
rs56307536
|
0.00935
|
NM_000083.3(CLCN1):c.1472-66T>C
|
rs142982744
|
0.00874
|
NM_000083.3(CLCN1):c.1583-169T>G
|
rs140839699
|
0.00873
|
NM_000083.3(CLCN1):c.697-258C>G
|
rs111676448
|
0.00815
|
NM_000083.3(CLCN1):c.302-170G>T
|
rs78040569
|
0.00793
|
NM_000083.3(CLCN1):c.302-37T>C
|
rs112059687
|
0.00777
|
NM_000083.3(CLCN1):c.26G>A (p.Arg9His)
|
rs115379077
|
0.00775
|
NM_000083.3(CLCN1):c.181-277C>T
|
rs74856857
|
0.00768
|
NM_000083.3(CLCN1):c.2596-201C>T
|
rs142195610
|
0.00735
|
NC_000007.14:g.143315964G>A
|
rs149077179
|
0.00710
|
NM_000083.3(CLCN1):c.2284+42G>A
|
rs79078881
|
0.00603
|
NM_000083.3(CLCN1):c.1167-196C>G
|
rs145398452
|
0.00599
|
NM_000083.3(CLCN1):c.433+32G>A
|
rs114486957
|
0.00570
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000083.3(CLCN1):c.2172+105A>C
|
rs139913910
|
0.00479
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_000083.3(CLCN1):c.433+185G>A
|
rs10282576
|
0.00437
|
NM_000083.3(CLCN1):c.1931-200T>C
|
rs114008688
|
0.00412
|
NM_000083.3(CLCN1):c.1471+65G>A
|
rs77814083
|
0.00365
|
NM_000083.3(CLCN1):c.2403+51T>C
|
rs145468503
|
0.00339
|
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val)
|
rs145517198
|
0.00313
|
NM_000083.3(CLCN1):c.433+78C>T
|
rs146551219
|
0.00281
|
NM_000083.3(CLCN1):c.980-135A>G
|
rs73456424
|
0.00267
|
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)
|
rs146160029
|
0.00231
|
NM_000083.3(CLCN1):c.2509-3C>T
|
rs375341574
|
0.00208
|
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)
|
rs140205115
|
0.00187
|
NM_000083.3(CLCN1):c.651C>T (p.Val217=)
|
rs144109732
|
0.00155
|
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu)
|
rs147493705
|
0.00132
|
NM_000083.3(CLCN1):c.2364+10G>A
|
rs201855153
|
0.00098
|
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
NM_000083.3(CLCN1):c.1815T>C (p.Val605=)
|
rs141945240
|
0.00087
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)
|
rs139757692
|
0.00060
|
NM_000083.3(CLCN1):c.633C>T (p.Ala211=)
|
rs138246784
|
0.00056
|
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)
|
rs144612641
|
0.00054
|
NM_000083.3(CLCN1):c.1582+47G>T
|
rs117080330
|
0.00046
|
NM_000083.3(CLCN1):c.853+17C>A
|
rs201114390
|
0.00044
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=)
|
rs148132102
|
0.00038
|
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)
|
rs80356706
|
0.00035
|
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser)
|
rs143075418
|
0.00034
|
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
|
rs139262486
|
0.00031
|
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)
|
rs201861334
|
0.00030
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000083.3(CLCN1):c.2541C>T (p.His847=)
|
rs146653916
|
0.00027
|
NM_000083.3(CLCN1):c.804G>A (p.Thr268=)
|
rs141521078
|
0.00021
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)
|
rs756353660
|
0.00016
|
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val)
|
rs563423438
|
0.00015
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_000083.3(CLCN1):c.*29C>A
|
rs202172391
|
0.00014
|
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)
|
rs201919331
|
0.00014
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp)
|
rs376026619
|
0.00011
|
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00010
|
NM_000083.3(CLCN1):c.2596-9G>T
|
rs200308662
|
0.00010
|
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00009
|
NM_000083.3(CLCN1):c.262G>A (p.Val88Met)
|
rs147581794
|
0.00009
|
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val)
|
rs969430772
|
0.00009
|
NM_000083.3(CLCN1):c.434-4G>A
|
rs368048336
|
0.00008
|
NM_000083.3(CLCN1):c.637G>A (p.Val213Met)
|
rs756755417
|
0.00008
|
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr)
|
rs189963844
|
0.00008
|
NM_000083.3(CLCN1):c.120G>C (p.Gly40=)
|
rs200344297
|
0.00006
|
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala)
|
rs202019723
|
0.00006
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys)
|
rs143025648
|
0.00006
|
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)
|
rs775384507
|
0.00005
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)
|
rs767366093
|
0.00004
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
0.00004
|
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
|
rs749205522
|
0.00004
|
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)
|
rs767209392
|
0.00004
|
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu)
|
rs745329674
|
0.00004
|
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys)
|
rs201506176
|
0.00004
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter)
|
rs757481015
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly)
|
rs1441046956
|
0.00003
|
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)
|
rs146469288
|
0.00003
|
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr)
|
rs139881658
|
0.00003
|
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs)
|
rs780534566
|
0.00003
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser)
|
rs201113768
|
0.00003
|
NM_000083.3(CLCN1):c.705C>T (p.Phe235=)
|
rs760323048
|
0.00003
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met)
|
rs200371691
|
0.00002
|
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile)
|
rs139158852
|
0.00002
|
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)
|
rs762754992
|
0.00002
|
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)
|
rs80356697
|
0.00002
|
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser)
|
rs766432255
|
0.00002
|
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val)
|
rs746346988
|
0.00002
|
NM_000083.3(CLCN1):c.1872del (p.Glu624fs)
|
rs1424799320
|
0.00002
|
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly)
|
rs760693424
|
0.00002
|
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys)
|
rs754581538
|
0.00002
|
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)
|
rs772150974
|
0.00002
|
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)
|
rs777708543
|
0.00002
|
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)
|
rs1554434802
|
0.00002
|
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter)
|
rs561470261
|
0.00002
|
NM_000083.3(CLCN1):c.774+1G>A
|
rs776073429
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg)
|
rs757109632
|
0.00002
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)
|
rs1682810737
|
0.00001
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)
|
rs1282349760
|
0.00001
|
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)
|
rs201714423
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys)
|
rs889073641
|
0.00001
|
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser)
|
rs375292685
|
0.00001
|
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile)
|
rs922819878
|
0.00001
|
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys)
|
rs1064796557
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1401+1G>T
|
rs769861892
|
0.00001
|
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)
|
rs746125212
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)
|
rs121912801
|
0.00001
|
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)
|
rs80356704
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr)
|
rs201850090
|
0.00001
|
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)
|
rs201894078
|
0.00001
|
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)
|
rs772430525
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.2172+1G>T
|
rs1273524525
|
0.00001
|
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp)
|
rs745586869
|
0.00001
|
NM_000083.3(CLCN1):c.2284+3G>A
|
rs755127390
|
0.00001
|
NM_000083.3(CLCN1):c.2364+2T>A
|
rs886041384
|
0.00001
|
NM_000083.3(CLCN1):c.2365-3T>C
|
rs770158484
|
0.00001
|
NM_000083.3(CLCN1):c.2403+5G>A
|
rs1474520642
|
0.00001
|
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg)
|
rs755433272
|
0.00001
|
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln)
|
rs771890096
|
0.00001
|
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His)
|
rs147068247
|
0.00001
|
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser)
|
rs1168501752
|
0.00001
|
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro)
|
rs201591839
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr)
|
rs140726900
|
0.00001
|
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser)
|
rs1418010822
|
0.00001
|
NM_000083.3(CLCN1):c.563-8G>A
|
rs763640926
|
0.00001
|
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)
|
rs80356686
|
0.00001
|
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val)
|
rs80356685
|
0.00001
|
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)
|
rs769612798
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.817G>A (p.Val273Met)
|
rs921162119
|
0.00001
|
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile)
|
rs759703560
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter)
|
rs1229066957
|
0.00001
|
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)
|
rs80356691
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000083.2(CLCN1):c.698delG
|
rs1423567292
|
|
NM_000083.3(CLCN1):c.-16_-14delinsGGA
|
rs1563071790
|
|
NM_000083.3(CLCN1):c.-59C>A
|
|
|
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)
|
rs2116852900
|
|
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)
|
rs759761559
|
|
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
|
|
|
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
|
|
|
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
|
|
|
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
|
|
|
NM_000083.3(CLCN1):c.1166+5G>A
|
rs1586497958
|
|
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter)
|
rs1554436799
|
|
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs)
|
|
|
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala)
|
rs368958317
|
|
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
|
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=)
|
rs2116854694
|
|
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
|
rs763633152
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
|
|
|
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)
|
rs752041565
|
|
NM_000083.3(CLCN1):c.1287del (p.Asp429fs)
|
rs2116855176
|
|
NM_000083.3(CLCN1):c.1290C>T (p.Asn430=)
|
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe)
|
rs2116855321
|
|
NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile)
|
|
|
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
|
|
|
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
|
rs372034290
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del)
|
rs1554438053
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)
|
rs1312002847
|
|
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg)
|
rs1586507590
|
|
NM_000083.3(CLCN1):c.1457del (p.Pro486fs)
|
rs756538708
|
|
NM_000083.3(CLCN1):c.1471+5_1471+11del
|
rs2116864882
|
|
NM_000083.3(CLCN1):c.1472-56T>A
|
rs6464542
|
|
NM_000083.3(CLCN1):c.1474G>A (p.Ala492Thr)
|
rs1803021137
|
|
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)
|
|
|
NM_000083.3(CLCN1):c.1557C>A (p.Ile519=)
|
rs1347911316
|
|
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1583-13T>A
|
|
|
NM_000083.3(CLCN1):c.1583-62A>C
|
rs117799198
|
|
NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr)
|
|
|
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)
|
rs1554438432
|
|
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile)
|
rs2116372748
|
|
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met)
|
rs1554438433
|
|
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)
|
rs762754992
|
|
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp)
|
rs1563084603
|
|
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
|
rs1269268607
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
|
|
|
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)
|
rs2116373216
|
|
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn)
|
rs1554438471
|
|
NM_000083.3(CLCN1):c.1818G>A (p.Glu606=)
|
rs1803105117
|
|
NM_000083.3(CLCN1):c.1857T>C (p.Ser619=)
|
|
|
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
|
|
|
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)
|
rs1009716258
|
|
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn)
|
rs1803111177
|
|
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs)
|
rs1237554305
|
|
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)
|
rs1803111906
|
|
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)
|
rs1803112361
|
|
NM_000083.3(CLCN1):c.1930+3C>G
|
|
|
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn)
|
rs1554438576
|
|
NM_000083.3(CLCN1):c.194A>G (p.His65Arg)
|
|
|
NM_000083.3(CLCN1):c.2172+1G>A
|
rs1273524525
|
|
NM_000083.3(CLCN1):c.2172+62CTGGG[7]
|
rs368460599
|
|
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
|
|
|
NM_000083.3(CLCN1):c.2284+1G>T
|
|
|
NM_000083.3(CLCN1):c.2365-1G>T
|
|
|
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)
|
rs1131691551
|
|
NM_000083.3(CLCN1):c.2404-9G>A
|
|
|
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)
|
|
|
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter)
|
rs1554439817
|
|
NM_000083.3(CLCN1):c.241A>G (p.Lys81Glu)
|
|
|
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis)
|
rs2116396889
|
|
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
|
|
|
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr)
|
rs1803362038
|
|
NM_000083.3(CLCN1):c.2492A>G (p.Gln831Arg)
|
|
|
NM_000083.3(CLCN1):c.2508+2T>A
|
rs992259659
|
|
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)
|
rs1563090141
|
|
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del)
|
rs1563090152
|
|
NM_000083.3(CLCN1):c.2555C>T (p.Thr852Ile)
|
|
|
NM_000083.3(CLCN1):c.2595+139_2595+140del
|
rs35882576
|
|
NM_000083.3(CLCN1):c.2595+140del
|
rs35882576
|
|
NM_000083.3(CLCN1):c.2595+140dup
|
rs35882576
|
|
NM_000083.3(CLCN1):c.2595+163G>C
|
rs185760236
|
|
NM_000083.3(CLCN1):c.2595+58G>C
|
rs114841412
|
|
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile)
|
rs1064796042
|
|
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
|
|
|
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
|
|
|
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met)
|
rs756135571
|
|
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=)
|
rs1803411706
|
|
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys)
|
rs1803416147
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr)
|
rs1448219970
|
|
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala)
|
rs574104250
|
|
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)
|
rs1586483178
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly)
|
|
|
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
|
|
|
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu)
|
rs1803422217
|
|
NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs)
|
rs778865730
|
|
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
|
|
|
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
|
|
|
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
|
|
|
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)
|
rs1204927357
|
|
NM_000083.3(CLCN1):c.302-110TC[14]
|
rs59572880
|
|
NM_000083.3(CLCN1):c.302-110TC[15]
|
rs59572880
|
|
NM_000083.3(CLCN1):c.302-110TC[17]
|
rs59572880
|
|
NM_000083.3(CLCN1):c.302-110TC[18]
|
rs59572880
|
|
NM_000083.3(CLCN1):c.302-110TC[20]
|
rs59572880
|
|
NM_000083.3(CLCN1):c.302-110TC[22]
|
rs59572880
|
|
NM_000083.3(CLCN1):c.302-1G>A
|
rs529377088
|
|
NM_000083.3(CLCN1):c.364G>C (p.Val122Leu)
|
|
|
NM_000083.3(CLCN1):c.378dup (p.Leu127fs)
|
rs1320040467
|
|
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr)
|
|
|
NM_000083.3(CLCN1):c.410_411delinsGGA (p.Tyr137fs)
|
rs2116836451
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp)
|
rs1435631505
|
|
NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn)
|
|
|
NM_000083.3(CLCN1):c.433+150G>A
|
rs145068952
|
|
NM_000083.3(CLCN1):c.434-1_437del
|
rs1563074191
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
|
|
|
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly)
|
rs1586485438
|
|
NM_000083.3(CLCN1):c.505C>T (p.Leu169=)
|
rs1183635234
|
|
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
|
rs992335710
|
|
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp)
|
rs574259784
|
|
NM_000083.3(CLCN1):c.562+1G>C
|
rs2116837885
|
|
NM_000083.3(CLCN1):c.562G>C (p.Gly188Arg)
|
rs1302735361
|
|
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala)
|
rs1554434857
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.586A>T (p.Thr196Ser)
|
rs1802442547
|
|
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro)
|
rs1347382107
|
|
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
|
|
|
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
|
|
|
NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly)
|
|
|
NM_000083.3(CLCN1):c.638T>G (p.Val213Gly)
|
|
|
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
|
|
|
NM_000083.3(CLCN1):c.662C>A (p.Ala221Glu)
|
|
|
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)
|
rs1802446540
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
|
rs1586486170
|
|
NM_000083.3(CLCN1):c.696G>A (p.Glu232=)
|
rs923380712
|
|
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp)
|
rs923380712
|
|
NM_000083.3(CLCN1):c.697-1G>A
|
rs773025750
|
|
NM_000083.3(CLCN1):c.697-1G>C
|
rs773025750
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)
|
rs776173406
|
|
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala)
|
rs1064794643
|
|
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile)
|
rs754934082
|
|
NM_000083.3(CLCN1):c.757T>C (p.Phe253Leu)
|
|
|
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)
|
rs1802495428
|
|
NM_000083.3(CLCN1):c.774+464C>T
|
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp)
|
rs1490537212
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val)
|
rs1563075892
|
|
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala)
|
rs1586489367
|
|
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
|
|
|
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
|
|
|
NM_000083.3(CLCN1):c.852A>G (p.Gly284=)
|
rs1417532624
|
|
NM_000083.3(CLCN1):c.853+5G>A
|
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe)
|
|
|
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)
|
rs1554436419
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly)
|
rs1554436427
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NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu)
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rs1802702190
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NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
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rs766116662
|
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NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)
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rs1337473924
|
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NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn)
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|
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NM_000083.3(CLCN1):c.980-3C>G
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rs1802714707
|
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NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)
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rs780421370
|
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NM_000083.3(CLCN1):c.987C>G (p.Ile329Met)
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rs140664749
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