NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
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.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)
|
rs144612641
|
0.00054
|
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.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.2172+3G>A
|
rs758964825
|
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.2722A>G (p.Asn908Asp)
|
rs146862992
|
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.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00009
|
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly)
|
rs371715660
|
0.00009
|
NM_000083.3(CLCN1):c.2403+4A>C
|
rs372826693
|
0.00009
|
NM_000083.3(CLCN1):c.262G>A (p.Val88Met)
|
rs147581794
|
0.00009
|
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln)
|
rs145412643
|
0.00009
|
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val)
|
rs969430772
|
0.00009
|
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys)
|
rs143506735
|
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.1123G>A (p.Gly375Ser)
|
rs140536210
|
0.00007
|
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.2411C>T (p.Ala804Val)
|
rs146453561
|
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.2693G>A (p.Gly898Glu)
|
rs149188892
|
0.00005
|
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser)
|
rs747078264
|
0.00005
|
NM_000083.3(CLCN1):c.1085G>C (p.Gly362Ala)
|
rs758597490
|
0.00004
|
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln)
|
rs754440141
|
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.2197C>T (p.Pro733Ser)
|
rs780173260
|
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.2833G>A (p.Gly945Ser)
|
rs774199742
|
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.452C>T (p.Ala151Val)
|
rs145280046
|
0.00004
|
NM_000083.3(CLCN1):c.616T>C (p.Tyr206His)
|
rs963470037
|
0.00004
|
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val)
|
rs563864511
|
0.00003
|
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn)
|
rs1031445351
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp)
|
rs1322496244
|
0.00003
|
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly)
|
rs1441046956
|
0.00003
|
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe)
|
rs908274887
|
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.2443T>C (p.Cys815Arg)
|
rs752494680
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His)
|
rs1320351683
|
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.1342G>A (p.Val448Met)
|
rs200371691
|
0.00002
|
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile)
|
rs139158852
|
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.1892C>T (p.Thr631Ile)
|
rs749762818
|
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.2341C>T (p.Pro781Ser)
|
rs117661165
|
0.00002
|
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr)
|
rs764347321
|
0.00002
|
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)
|
rs777708543
|
0.00002
|
NM_000083.3(CLCN1):c.392T>C (p.Val131Ala)
|
rs769391461
|
0.00002
|
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)
|
rs1554434802
|
0.00002
|
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp)
|
rs368280521
|
0.00002
|
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg)
|
rs200889399
|
0.00001
|
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)
|
rs1682810737
|
0.00001
|
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)
|
rs1282349760
|
0.00001
|
NM_000083.3(CLCN1):c.1102C>A (p.Leu368Met)
|
rs1198219818
|
0.00001
|
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg)
|
rs376144544
|
0.00001
|
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys)
|
rs547603982
|
0.00001
|
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr)
|
rs368276618
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly)
|
rs1288398919
|
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.1414A>G (p.Ile472Val)
|
rs767231116
|
0.00001
|
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)
|
rs781587827
|
0.00001
|
NM_000083.3(CLCN1):c.1448G>A (p.Gly483Asp)
|
rs1336878695
|
0.00001
|
NM_000083.3(CLCN1):c.1459G>A (p.Val487Met)
|
rs749370790
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser)
|
rs1316380335
|
0.00001
|
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala)
|
rs1161052414
|
0.00001
|
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala)
|
rs773422802
|
0.00001
|
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)
|
rs763850295
|
0.00001
|
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)
|
rs772430525
|
0.00001
|
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu)
|
rs769312894
|
0.00001
|
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr)
|
rs886062033
|
0.00001
|
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp)
|
rs745586869
|
0.00001
|
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser)
|
rs373850192
|
0.00001
|
NM_000083.3(CLCN1):c.2243T>G (p.Leu748Arg)
|
rs768009397
|
0.00001
|
NM_000083.3(CLCN1):c.2253C>G (p.His751Gln)
|
rs767926364
|
0.00001
|
NM_000083.3(CLCN1):c.2284+3G>A
|
rs755127390
|
0.00001
|
NM_000083.3(CLCN1):c.2365-3T>C
|
rs770158484
|
0.00001
|
NM_000083.3(CLCN1):c.2390T>C (p.Met797Thr)
|
rs368445765
|
0.00001
|
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala)
|
rs112068131
|
0.00001
|
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg)
|
rs755433272
|
0.00001
|
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys)
|
rs1473430259
|
0.00001
|
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln)
|
rs771890096
|
0.00001
|
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly)
|
rs948634525
|
0.00001
|
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys)
|
rs139117651
|
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.2944G>A (p.Asp982Asn)
|
rs1803424950
|
0.00001
|
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg)
|
rs1586483209
|
0.00001
|
NM_000083.3(CLCN1):c.432G>A (p.Gln144=)
|
rs921731349
|
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.523A>G (p.Ser175Gly)
|
rs555680428
|
0.00001
|
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)
|
rs1554434814
|
0.00001
|
NM_000083.3(CLCN1):c.551C>T (p.Pro184Leu)
|
rs1397098562
|
0.00001
|
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg)
|
rs1802432204
|
0.00001
|
NM_000083.3(CLCN1):c.562+6A>C
|
rs1245612236
|
0.00001
|
NM_000083.3(CLCN1):c.563-8G>A
|
rs763640926
|
0.00001
|
NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr)
|
rs756669568
|
0.00001
|
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)
|
rs80356686
|
0.00001
|
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)
|
rs769612798
|
0.00001
|
NM_000083.3(CLCN1):c.632C>T (p.Ala211Val)
|
rs761511512
|
0.00001
|
NM_000083.3(CLCN1):c.662C>T (p.Ala221Val)
|
rs748415883
|
0.00001
|
NM_000083.3(CLCN1):c.697-9C>A
|
rs201207110
|
0.00001
|
NM_000083.3(CLCN1):c.719G>A (p.Ser240Asn)
|
rs758767069
|
0.00001
|
NM_000083.3(CLCN1):c.756G>A (p.Val252=)
|
rs886062034
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile)
|
rs759703560
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala)
|
rs756977743
|
0.00001
|
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro)
|
rs1330549395
|
0.00001
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NC_000007.13:g.(?_143013306)_(143049058_?)dup
|
|
|
NC_000007.13:g.(?_143047445)_(143049078_?)dup
|
|
|
NM_000083.3(CLCN1):c.-59C>A
|
|
|
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)
|
rs2116852900
|
|
NM_000083.3(CLCN1):c.1004C>T (p.Thr335Ile)
|
|
|
NM_000083.3(CLCN1):c.1006A>G (p.Asn336Asp)
|
rs2116852905
|
|
NM_000083.3(CLCN1):c.1007A>G (p.Asn336Ser)
|
|
|
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
|
|
|
NM_000083.3(CLCN1):c.1027T>A (p.Phe343Ile)
|
|
|
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)
|
rs1554436510
|
|
NM_000083.3(CLCN1):c.1028T>G (p.Phe343Cys)
|
rs1291895685
|
|
NM_000083.3(CLCN1):c.1031A>G (p.Asp344Gly)
|
|
|
NM_000083.3(CLCN1):c.1051T>G (p.Phe351Val)
|
rs2116853000
|
|
NM_000083.3(CLCN1):c.1064+6del
|
rs1482886131
|
|
NM_000083.3(CLCN1):c.1079T>G (p.Leu360Arg)
|
|
|
NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)
|
|
|
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu)
|
rs1554436573
|
|
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu)
|
rs1554436573
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
NM_000083.3(CLCN1):c.1106A>C (p.His369Pro)
|
|
|
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
|
|
|
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
|
|
|
NM_000083.3(CLCN1):c.1114G>A (p.Val372Ile)
|
|
|
NM_000083.3(CLCN1):c.1120C>A (p.Leu374Ile)
|
|
|
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
|
|
|
NM_000083.3(CLCN1):c.1130G>A (p.Arg377Gln)
|
|
|
NM_000083.3(CLCN1):c.1149C>T (p.Ser383=)
|
|
|
NM_000083.3(CLCN1):c.1166+5G>A
|
rs1586497958
|
|
NM_000083.3(CLCN1):c.1167-3C>T
|
rs1308054644
|
|
NM_000083.3(CLCN1):c.1167-9C>A
|
rs770515905
|
|
NM_000083.3(CLCN1):c.1169G>A (p.Arg390His)
|
|
|
NM_000083.3(CLCN1):c.1169G>T (p.Arg390Leu)
|
|
|
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp)
|
rs368958317
|
|
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala)
|
rs368958317
|
|
NM_000083.3(CLCN1):c.1195T>C (p.Phe399Leu)
|
|
|
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
|
|
|
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu)
|
rs1802752292
|
|
NM_000083.3(CLCN1):c.1227A>T (p.Gly409=)
|
|
|
NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)
|
|
|
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.1243G>A (p.Ala415Thr)
|
rs1023099235
|
|
NM_000083.3(CLCN1):c.1251+11G>T
|
rs780748786
|
|
NM_000083.3(CLCN1):c.1251+14G>A
|
rs1027351084
|
|
NM_000083.3(CLCN1):c.1251+5G>A
|
rs1802753836
|
|
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)
|
|
|
NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe)
|
rs1472138354
|
|
NM_000083.3(CLCN1):c.1254G>T (p.Leu418Phe)
|
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1276A>C (p.Thr426Pro)
|
rs749846585
|
|
NM_000083.3(CLCN1):c.1286A>G (p.Asp429Gly)
|
rs1001314584
|
|
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro)
|
rs868831424
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
NM_000083.3(CLCN1):c.1307A>T (p.His436Leu)
|
|
|
NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_000083.3(CLCN1):c.1342G>C (p.Val448Leu)
|
|
|
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe)
|
rs2116855321
|
|
NM_000083.3(CLCN1):c.1353C>A (p.His451Gln)
|
|
|
NM_000083.3(CLCN1):c.1354C>T (p.Pro452Ser)
|
rs1416813045
|
|
NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile)
|
|
|
NM_000083.3(CLCN1):c.1363A>T (p.Asn455Tyr)
|
|
|
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu)
|
rs776848644
|
|
NM_000083.3(CLCN1):c.1400A>G (p.Lys467Arg)
|
|
|
NM_000083.3(CLCN1):c.1401G>A (p.Lys467=)
|
rs2116855428
|
|
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg)
|
rs759207718
|
|
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
|
|
|
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
|
rs372034290
|
|
NM_000083.3(CLCN1):c.1417G>A (p.Val473Met)
|
|
|
NM_000083.3(CLCN1):c.1424C>T (p.Thr475Ile)
|
|
|
NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)
|
|
|
NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)
|
|
|
NM_000083.3(CLCN1):c.1436T>C (p.Ile479Thr)
|
rs1803011827
|
|
NM_000083.3(CLCN1):c.1437A>G (p.Ile479Met)
|
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg)
|
rs1586507590
|
|
NM_000083.3(CLCN1):c.1471+5_1471+11del
|
rs2116864882
|
|
NM_000083.3(CLCN1):c.1471G>C (p.Gly491Arg)
|
|
|
NM_000083.3(CLCN1):c.1474G>A (p.Ala492Thr)
|
rs1803021137
|
|
NM_000083.3(CLCN1):c.148G>A (p.Ala50Thr)
|
|
|
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg)
|
rs1586507943
|
|
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu)
|
rs1803022284
|
|
NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)
|
|
|
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)
|
|
|
NM_000083.3(CLCN1):c.1510A>G (p.Met504Val)
|
rs1803022969
|
|
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys)
|
rs1271778777
|
|
NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)
|
|
|
NM_000083.3(CLCN1):c.1525G>A (p.Gly509Ser)
|
|
|
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn)
|
rs756490905
|
|
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala)
|
rs1802292476
|
|
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)
|
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.156C>T (p.Pro52=)
|
rs886062032
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=)
|
rs1332372122
|
|
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr)
|
rs1319653705
|
|
NM_000083.3(CLCN1):c.1583-13T>A
|
|
|
NM_000083.3(CLCN1):c.1586C>T (p.Ala529Val)
|
|
|
NM_000083.3(CLCN1):c.1588G>A (p.Ala530Thr)
|
|
|
NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)
|
|
|
NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr)
|
|
|
NM_000083.3(CLCN1):c.1600G>A (p.Gly534Ser)
|
|
|
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val)
|
rs752814433
|
|
NM_000083.3(CLCN1):c.1613A>C (p.His538Pro)
|
|
|
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala)
|
rs1563084569
|
|
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.1652G>A (p.Gly551Asp)
|
rs1563084603
|
|
NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)
|
|
|
NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)
|
|
|
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)
|
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys)
|
rs779726850
|
|
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
|
|
|
NM_000083.3(CLCN1):c.1727C>T (p.Ser576Phe)
|
rs143825889
|
|
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)
|
rs2116373216
|
|
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu)
|
rs1803094547
|
|
NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)
|
|
|
NM_000083.3(CLCN1):c.1774G>A (p.Asp592Asn)
|
|
|
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
|
|
|
NM_000083.3(CLCN1):c.1796+2_1796+6del
|
rs1563084796
|
|
NM_000083.3(CLCN1):c.180+4A>G
|
rs2116829759
|
|
NM_000083.3(CLCN1):c.1805C>A (p.Thr602Asn)
|
|
|
NM_000083.3(CLCN1):c.180G>A (p.Gln60=)
|
|
|
NM_000083.3(CLCN1):c.181A>C (p.Ile61Leu)
|
|
|
NM_000083.3(CLCN1):c.1825A>C (p.Met609Leu)
|
|
|
NM_000083.3(CLCN1):c.1857T>C (p.Ser619=)
|
|
|
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg)
|
rs886062035
|
|
NM_000083.3(CLCN1):c.1868G>C (p.Gly623Ala)
|
|
|
NM_000083.3(CLCN1):c.1870G>A (p.Glu624Lys)
|
|
|
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
|
|
|
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
|
|
|
NM_000083.3(CLCN1):c.187G>A (p.Gly63Ser)
|
|
|
NM_000083.3(CLCN1):c.1897A>G (p.Thr633Ala)
|
|
|
NM_000083.3(CLCN1):c.1898C>T (p.Thr633Ile)
|
|
|
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn)
|
rs1803111177
|
|
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)
|
rs1803111906
|
|
NM_000083.3(CLCN1):c.1930+3C>G
|
|
|
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn)
|
rs1554438576
|
|
NM_000083.3(CLCN1):c.193C>G (p.His65Asp)
|
|
|
NM_000083.3(CLCN1):c.194A>G (p.His65Arg)
|
|
|
NM_000083.3(CLCN1):c.2124C>A (p.Phe708Leu)
|
|
|
NM_000083.3(CLCN1):c.2129T>C (p.Phe710Ser)
|
|
|
NM_000083.3(CLCN1):c.2131G>C (p.Val711Leu)
|
rs2116384678
|
|
NM_000083.3(CLCN1):c.2136TGAGGA[3] (p.713ED[4])
|
rs776429032
|
|
NM_000083.3(CLCN1):c.214A>G (p.Arg72Gly)
|
rs1219415384
|
|
NM_000083.3(CLCN1):c.2161G>A (p.Gly721Ser)
|
rs1300665013
|
|
NM_000083.3(CLCN1):c.2173-3C>G
|
rs1169171168
|
|
NM_000083.3(CLCN1):c.2173-5T>G
|
|
|
NM_000083.3(CLCN1):c.2192dup (p.His732fs)
|
rs1563087702
|
|
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala)
|
rs539404339
|
|
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile)
|
rs1803237753
|
|
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
|
|
|
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val)
|
rs1586483060
|
|
NM_000083.3(CLCN1):c.2255A>G (p.Lys752Arg)
|
rs2116386398
|
|
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu)
|
rs1803241372
|
|
NM_000083.3(CLCN1):c.2279C>A (p.Pro760His)
|
|
|
NM_000083.3(CLCN1):c.2284+12C>G
|
rs1472307602
|
|
NM_000083.3(CLCN1):c.2284+6G>A
|
|
|
NM_000083.3(CLCN1):c.2329G>C (p.Gly777Arg)
|
rs2116387531
|
|
NM_000083.3(CLCN1):c.2330G>T (p.Gly777Val)
|
rs1803256620
|
|
NM_000083.3(CLCN1):c.2339G>T (p.Arg780Leu)
|
rs529481237
|
|
NM_000083.3(CLCN1):c.235C>T (p.Pro79Ser)
|
|
|
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu)
|
rs1803265479
|
|
NM_000083.3(CLCN1):c.2403+3G>A
|
|
|
NM_000083.3(CLCN1):c.2403+4A>G
|
|
|
NM_000083.3(CLCN1):c.2404-9G>A
|
|
|
NM_000083.3(CLCN1):c.241A>G (p.Lys81Glu)
|
|
|
NM_000083.3(CLCN1):c.2431A>C (p.Ser811Arg)
|
rs2116396688
|
|
NM_000083.3(CLCN1):c.2437C>T (p.Pro813Ser)
|
|
|
NM_000083.3(CLCN1):c.2453C>A (p.Ser818Tyr)
|
|
|
NM_000083.3(CLCN1):c.245C>T (p.Thr82Ile)
|
rs2116834657
|
|
NM_000083.3(CLCN1):c.2461A>C (p.Ile821Leu)
|
|
|
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu)
|
rs1554439830
|
|
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.2464G>A (p.Asp822Asn)
|
|
|
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His)
|
rs143146088
|
|
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr)
|
rs1803362038
|
|
NM_000083.3(CLCN1):c.2492A>G (p.Gln831Arg)
|
|
|
NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)
|
|
|
NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr)
|
rs2116397081
|
|
NM_000083.3(CLCN1):c.2505C>G (p.His835Gln)
|
|
|
NM_000083.3(CLCN1):c.2508+5G>A
|
rs1401007697
|
|
NM_000083.3(CLCN1):c.2519T>G (p.Leu840Arg)
|
|
|
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del)
|
rs1563090152
|
|
NM_000083.3(CLCN1):c.2531T>C (p.Leu844Pro)
|
rs2116397538
|
|
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
|
|
|
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly)
|
rs1193157349
|
|
NM_000083.3(CLCN1):c.2542C>G (p.Leu848Val)
|
|
|
NM_000083.3(CLCN1):c.2555C>T (p.Thr852Ile)
|
|
|
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu)
|
rs1554439879
|
|
NM_000083.3(CLCN1):c.2595G>A (p.Glu865=)
|
rs2116397852
|
|
NM_000083.3(CLCN1):c.2596-11C>G
|
rs2116400965
|
|
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser)
|
|
|
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser)
|
rs745344072
|
|
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr)
|
rs1319094688
|
|
NM_000083.3(CLCN1):c.260C>T (p.Thr87Ile)
|
|
|
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile)
|
rs1064796042
|
|
NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu)
|
rs1803406966
|
|
NM_000083.3(CLCN1):c.2617C>T (p.His873Tyr)
|
rs2116401119
|
|
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
|
|
|
NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)
|
|
|
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser)
|
rs1803409136
|
|
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
|
|
|
NM_000083.3(CLCN1):c.2662C>T (p.Arg888Trp)
|
|
|
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met)
|
rs756135571
|
|
NM_000083.3(CLCN1):c.2692G>A (p.Gly898Arg)
|
|
|
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=)
|
rs1803411706
|
|
NM_000083.3(CLCN1):c.2695G>A (p.Ala899Thr)
|
|
|
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro)
|
rs1803412320
|
|
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys)
|
rs886062036
|
|
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala)
|
rs1803414359
|
|
NM_000083.3(CLCN1):c.2778C>A (p.Ser926=)
|
|
|
NM_000083.3(CLCN1):c.277G>A (p.Glu93Lys)
|
|
|
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.2803T>C (p.Ser935Pro)
|
rs1803417569
|
|
NM_000083.3(CLCN1):c.2811G>T (p.Glu937Asp)
|
|
|
NM_000083.3(CLCN1):c.2812C>T (p.Pro938Ser)
|
|
|
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.2831C>T (p.Pro944Leu)
|
rs1226179201
|
|
NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)
|
|
|
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.2896C>G (p.Leu966Val)
|
rs138115069
|
|
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His)
|
rs748630375
|
|
NM_000083.3(CLCN1):c.2909T>A (p.Leu970Ter)
|
|
|
NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs)
|
rs778865730
|
|
NM_000083.3(CLCN1):c.2937C>A (p.Asp979Glu)
|
|
|
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
|
|
|
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
|
|
|
NM_000083.3(CLCN1):c.2941G>A (p.Glu981Lys)
|
rs1586524391
|
|
NM_000083.3(CLCN1):c.2945A>C (p.Asp982Ala)
|
|
|
NM_000083.3(CLCN1):c.2947G>A (p.Glu983Lys)
|
|
|
NM_000083.3(CLCN1):c.294A>C (p.Lys98Asn)
|
|
|
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
|
|
|
NM_000083.3(CLCN1):c.2960T>A (p.Ile987Asn)
|
|
|
NM_000083.3(CLCN1):c.2962C>G (p.Leu988Val)
|
|
|
NM_000083.3(CLCN1):c.2962del (p.Leu988fs)
|
rs748329158
|
|
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)
|
rs1204927357
|
|
NM_000083.3(CLCN1):c.326T>C (p.Val109Ala)
|
|
|
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala)
|
rs1563071875
|
|
NM_000083.3(CLCN1):c.343G>A (p.Gly115Arg)
|
rs1802406028
|
|
NM_000083.3(CLCN1):c.355A>G (p.Ile119Val)
|
|
|
NM_000083.3(CLCN1):c.364G>A (p.Val122Met)
|
|
|
NM_000083.3(CLCN1):c.364G>C (p.Val122Leu)
|
|
|
NM_000083.3(CLCN1):c.365T>A (p.Val122Glu)
|
rs2116836338
|
|
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu)
|
rs1802406774
|
|
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.392T>G (p.Val131Gly)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.399G>C (p.Trp133Cys)
|
|
|
NM_000083.3(CLCN1):c.404T>C (p.Met135Thr)
|
|
|
NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr)
|
|
|
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala)
|
|
|
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His)
|
rs748639603
|
|
NM_000083.3(CLCN1):c.414C>G (p.Val138=)
|
|
|
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)
|
|
|
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp)
|
rs1435631505
|
|
NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn)
|
|
|
NM_000083.3(CLCN1):c.430C>G (p.Gln144Glu)
|
|
|
NM_000083.3(CLCN1):c.431A>G (p.Gln144Arg)
|
|
|
NM_000083.3(CLCN1):c.433+4G>C
|
|
|
NM_000083.3(CLCN1):c.433+4G>T
|
|
|
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser)
|
rs1475533366
|
|
NM_000083.3(CLCN1):c.434-17G>C
|
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)
|
|
|
NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)
|
|
|
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg)
|
rs1409574232
|
|
NM_000083.3(CLCN1):c.462G>C (p.Gln154His)
|
|
|
NM_000083.3(CLCN1):c.487G>A (p.Val163Ile)
|
rs763587236
|
|
NM_000083.3(CLCN1):c.497C>G (p.Thr166Ser)
|
rs759966057
|
|
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
|
rs992335710
|
|
NM_000083.3(CLCN1):c.518T>A (p.Leu173His)
|
|
|
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp)
|
rs574259784
|
|
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val)
|
rs766286036
|
|
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)
|
|
|
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
|
|
|
NM_000083.3(CLCN1):c.542T>C (p.Leu181Pro)
|
rs2116837812
|
|
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met)
|
rs980845093
|
|
NM_000083.3(CLCN1):c.553C>A (p.Gln185Lys)
|
|
|
NM_000083.3(CLCN1):c.562+5G>C
|
|
|
NM_000083.3(CLCN1):c.562G>A (p.Gly188Ser)
|
|
|
NM_000083.3(CLCN1):c.562G>C (p.Gly188Arg)
|
rs1302735361
|
|
NM_000083.3(CLCN1):c.563-13T>G
|
rs1802439916
|
|
NM_000083.3(CLCN1):c.563-9C>A
|
rs201404573
|
|
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp)
|
rs1554434857
|
|
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val)
|
rs1554434857
|
|
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)
|
rs121912810
|
|
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.57C>A (p.Asp19Glu)
|
rs886062031
|
|
NM_000083.3(CLCN1):c.586A>T (p.Thr196Ser)
|
rs1802442547
|
|
NM_000083.3(CLCN1):c.596G>A (p.Arg199His)
|
|
|
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
|
|
|
NM_000083.3(CLCN1):c.604G>T (p.Val202Phe)
|
|
|
NM_000083.3(CLCN1):c.619C>T (p.Leu207Phe)
|
|
|
NM_000083.3(CLCN1):c.626T>G (p.Met209Arg)
|
rs1802444087
|
|
NM_000083.3(CLCN1):c.629A>G (p.Lys210Arg)
|
|
|
NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly)
|
|
|
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys)
|
rs201113768
|
|
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.677G>A (p.Gly226Asp)
|
|
|
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.691A>G (p.Lys231Glu)
|
rs1586486170
|
|
NM_000083.3(CLCN1):c.696+5G>A
|
rs865899737
|
|
NM_000083.3(CLCN1):c.696+6C>T
|
|
|
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.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000083.3(CLCN1):c.69G>C (p.Gln23His)
|
rs760729130
|
|
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
|
|
|
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.710A>G (p.His237Arg)
|
rs542648820
|
|
NM_000083.3(CLCN1):c.712A>G (p.Ile238Val)
|
rs765718767
|
|
NM_000083.3(CLCN1):c.712A>T (p.Ile238Phe)
|
|
|
NM_000083.3(CLCN1):c.715G>C (p.Ala239Pro)
|
rs1454438376
|
|
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr)
|
rs1586487813
|
|
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile)
|
rs754934082
|
|
NM_000083.3(CLCN1):c.750G>T (p.Met250Ile)
|
rs754934082
|
|
NM_000083.3(CLCN1):c.757T>C (p.Phe253Leu)
|
|
|
NM_000083.3(CLCN1):c.759C>G (p.Phe253Leu)
|
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)
|
rs1802495428
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe)
|
rs2116842824
|
|
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.814_815delinsAA (p.Ala272Asn)
|
|
|
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly)
|
rs1563075892
|
|
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.81T>A (p.Phe27Leu)
|
|
|
NM_000083.3(CLCN1):c.821G>A (p.Gly274Glu)
|
rs2116842888
|
|
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
|
|
|
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
|
|
|
NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys)
|
rs765181341
|
|
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg)
|
rs80190110
|
|
NM_000083.3(CLCN1):c.838G>T (p.Gly280Trp)
|
|
|
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala)
|
rs1586489432
|
|
NM_000083.3(CLCN1):c.845C>G (p.Pro282Arg)
|
|
|
NM_000083.3(CLCN1):c.852A>G (p.Gly284=)
|
rs1417532624
|
|
NM_000083.3(CLCN1):c.853+5G>A
|
|
|
NM_000083.3(CLCN1):c.854-3C>A
|
|
|
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val)
|
|
|
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala)
|
rs80356689
|
|
NM_000083.3(CLCN1):c.860T>G (p.Leu287Arg)
|
|
|
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile)
|
rs762943928
|
|
NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe)
|
|
|
NM_000083.3(CLCN1):c.889T>G (p.Phe297Val)
|
rs2116852202
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly)
|
rs1554436427
|
|
NM_000083.3(CLCN1):c.911G>A (p.Arg304Lys)
|
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
NM_000083.3(CLCN1):c.923C>T (p.Ala308Val)
|
rs1406554534
|
|
NM_000083.3(CLCN1):c.931T>C (p.Phe311Leu)
|
|
|
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys)
|
rs1586496817
|
|
NM_000083.3(CLCN1):c.944T>C (p.Val315Ala)
|
|
|
NM_000083.3(CLCN1):c.949C>A (p.Arg317=)
|
rs1337473924
|
|
NM_000083.3(CLCN1):c.961G>A (p.Val321Met)
|
rs2116852366
|
|
NM_000083.3(CLCN1):c.966G>C (p.Trp322Cys)
|
|
|
NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn)
|
|
|
NM_000083.3(CLCN1):c.980-3C>G
|
rs1802714707
|
|
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)
|
rs780421370
|
|
NM_000083.3(CLCN1):c.984C>T (p.Thr328=)
|
|
|
NM_000083.3(CLCN1):c.984_989del (p.Ile329_Thr330del)
|
|
|
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met)
|
rs140664749
|
|
NM_000083.3(CLCN1):c.991_992delinsCT (p.Ala331Leu)
|
rs2116852875
|
|
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)
|
|
|
NM_000083.3(CLCN1):c.998T>C (p.Phe333Ser)
|
rs2116852892
|
|