NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99732
|
NM_000338.3(SLC12A1):c.2296-21A>G
|
rs1484551
|
0.99047
|
NM_004070.4(CLCNKA):c.1929+31A>G
|
rs10927893
|
0.91898
|
NM_000338.3(SLC12A1):c.*1084A>T
|
rs12438818
|
0.90572
|
NM_000085.5(CLCNKB):c.*37A>C
|
rs10803415
|
0.90411
|
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)
|
rs2014562
|
0.88578
|
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr)
|
rs5253
|
0.88476
|
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=)
|
rs1889790
|
0.82868
|
NM_000338.3(SLC12A1):c.*110G>T
|
rs8025278
|
0.82831
|
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val)
|
rs7367494
|
0.82537
|
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)
|
rs7368151
|
0.82518
|
NM_000085.5(CLCNKB):c.866+35A>T
|
rs59924562
|
0.82506
|
NM_000085.5(CLCNKB):c.867-32G>A
|
rs7365182
|
0.82329
|
NM_000338.3(SLC12A1):c.*284A>G
|
rs12902028
|
0.82288
|
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)
|
rs1889789
|
0.81589
|
NM_000085.5(CLCNKB):c.1930-40A>G
|
rs7517792
|
0.76354
|
NM_004070.4(CLCNKA):c.1623-57T>C
|
rs2015509
|
0.70166
|
NM_004070.4(CLCNKA):c.1846-6T>C
|
rs10803407
|
0.70157
|
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu)
|
rs2275166
|
0.70089
|
NM_000085.5(CLCNKB):c.498+83C>G
|
rs2863440
|
0.68735
|
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)
|
rs5257
|
0.68719
|
NM_000085.5(CLCNKB):c.577-5C>T
|
rs1889788
|
0.68517
|
NM_057176.3(BSND):c.-70C>G
|
rs2500341
|
0.67045
|
NM_057176.3(BSND):c.-117T>C
|
rs2500340
|
0.66208
|
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=)
|
rs2275167
|
0.64121
|
NM_004070.4(CLCNKA):c.782-36G>C
|
rs10927889
|
0.61574
|
NM_004070.4(CLCNKA):c.1757-13C>G
|
rs6669935
|
0.60387
|
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)
|
rs10927887
|
0.59220
|
NM_000085.5(CLCNKB):c.101-50G>C
|
rs6604910
|
0.53214
|
NM_057176.3(BSND):c.*175C>G
|
rs4339899
|
0.46025
|
NM_177433.3(MAGED2):c.396A>G (p.Thr132=)
|
rs1043034
|
0.44970
|
NM_057176.3(BSND):c.*24A>C
|
rs6682884
|
0.43300
|
NM_177433.3(MAGED2):c.624C>T (p.Ala208=)
|
rs1043044
|
0.39177
|
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=)
|
rs6493311
|
0.37763
|
NM_177433.3(MAGED2):c.981C>T (p.Ser327=)
|
rs2071932
|
0.35983
|
NM_177433.3(MAGED2):c.252A>G (p.Ser84=)
|
rs1043031
|
0.33668
|
NM_000085.5(CLCNKB):c.1930-37T>A
|
rs7512547
|
0.30011
|
NM_057176.3(BSND):c.924G>A (p.Pro308=)
|
rs33938617
|
0.18512
|
NM_057176.3(BSND):c.177+11G>A
|
rs78904893
|
0.06761
|
NM_000338.3(SLC12A1):c.-136A>G
|
rs35787656
|
0.04798
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_057176.3(BSND):c.-241G>A
|
rs12069526
|
0.04585
|
NM_000338.3(SLC12A1):c.*126T>C
|
rs7165179
|
0.03546
|
NM_000338.3(SLC12A1):c.*101C>A
|
rs55707440
|
0.02084
|
NM_000338.3(SLC12A1):c.*300T>C
|
rs78562329
|
0.01932
|
NM_057176.3(BSND):c.*94A>G
|
rs80300625
|
0.01711
|
NM_000338.3(SLC12A1):c.*158C>T
|
rs7163846
|
0.01443
|
NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val)
|
rs200268763
|
0.01145
|
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile)
|
rs114387880
|
0.01060
|
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile)
|
rs35530360
|
0.00874
|
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
|
rs59172778
|
0.00742
|
NM_000338.3(SLC12A1):c.2630-7G>A
|
rs34063058
|
0.00623
|
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=)
|
rs149563706
|
0.00576
|
NM_153766.3(KCNJ1):c.*16G>A
|
rs3181542
|
0.00566
|
NM_000085.5(CLCNKB):c.782-18A>G
|
rs201540366
|
0.00547
|
NM_000338.3(SLC12A1):c.*1042C>T
|
rs117903818
|
0.00475
|
NM_153766.3(KCNJ1):c.*801C>T
|
rs7117664
|
0.00429
|
NM_000338.3(SLC12A1):c.2296-6G>T
|
rs34047900
|
0.00402
|
NM_177433.3(MAGED2):c.816A>G (p.Pro272=)
|
rs111542041
|
0.00401
|
NM_000338.3(SLC12A1):c.1300+12G>A
|
rs147511178
|
0.00364
|
NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys)
|
rs139564196
|
0.00359
|
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val)
|
rs141858745
|
0.00348
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile)
|
rs138110172
|
0.00332
|
NM_057176.3(BSND):c.-25C>T
|
rs188418228
|
0.00331
|
NM_057176.3(BSND):c.459C>T (p.Asp153=)
|
rs138974602
|
0.00328
|
NM_057176.3(BSND):c.-156G>C
|
rs183925883
|
0.00313
|
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg)
|
rs35258749
|
0.00285
|
NM_153766.3(KCNJ1):c.*864G>T
|
rs139805663
|
0.00272
|
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr)
|
rs144128875
|
0.00249
|
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=)
|
rs35783293
|
0.00248
|
NM_153766.3(KCNJ1):c.*507C>T
|
rs142091896
|
0.00248
|
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr)
|
rs189960510
|
0.00215
|
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=)
|
rs34820738
|
0.00148
|
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=)
|
rs150609105
|
0.00148
|
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)
|
rs35240149
|
0.00136
|
NM_000338.3(SLC12A1):c.*153T>C
|
rs77852166
|
0.00134
|
NM_000338.3(SLC12A1):c.828G>A (p.Val276=)
|
rs3825960
|
0.00131
|
NM_057176.3(BSND):c.189C>T (p.Val63=)
|
rs144505461
|
0.00125
|
NM_153766.3(KCNJ1):c.837T>C (p.Asp279=)
|
rs147861417
|
0.00120
|
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val)
|
rs78648980
|
0.00111
|
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=)
|
rs145464740
|
0.00111
|
NM_057176.3(BSND):c.177+15G>C
|
rs193020037
|
0.00108
|
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys)
|
rs140218299
|
0.00104
|
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)
|
rs137893258
|
0.00103
|
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=)
|
rs139832082
|
0.00103
|
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val)
|
rs188295259
|
0.00100
|
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=)
|
rs151266668
|
0.00093
|
NM_057176.3(BSND):c.527G>A (p.Arg176His)
|
rs143711308
|
0.00092
|
NM_153766.3(KCNJ1):c.-21-2121G>A
|
rs147611594
|
0.00089
|
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg)
|
rs144517772
|
0.00088
|
NM_153766.3(KCNJ1):c.17G>A (p.Arg6Gln)
|
rs139185738
|
0.00087
|
NM_000338.3(SLC12A1):c.1560+10G>A
|
rs200934309
|
0.00082
|
NM_057176.3(BSND):c.63C>T (p.Leu21=)
|
rs141611486
|
0.00079
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00078
|
NM_000085.5(CLCNKB):c.1227+11T>C
|
rs201479763
|
0.00073
|
NM_000338.3(SLC12A1):c.*136G>A
|
rs139328190
|
0.00073
|
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=)
|
rs79198735
|
0.00072
|
NM_057176.3(BSND):c.715C>T (p.Gln239Ter)
|
rs147394986
|
0.00071
|
NM_153766.3(KCNJ1):c.-21-2138C>T
|
rs34191956
|
0.00071
|
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His)
|
rs34661166
|
0.00070
|
NM_000338.3(SLC12A1):c.*12T>C
|
rs376778228
|
0.00067
|
NM_000085.5(CLCNKB):c.1930-6A>G
|
rs72474563
|
0.00064
|
NM_000338.3(SLC12A1):c.3096+7A>T
|
rs200662267
|
0.00062
|
NM_000085.5(CLCNKB):c.968+9C>T
|
rs200650615
|
0.00061
|
NM_153766.3(KCNJ1):c.-21-2197T>A
|
rs369901110
|
0.00059
|
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=)
|
rs144157543
|
0.00056
|
NM_000085.5(CLCNKB):c.358+20G>A
|
rs199657323
|
0.00053
|
NM_057176.3(BSND):c.141G>C (p.Gly47=)
|
rs76222905
|
0.00053
|
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=)
|
rs146084461
|
0.00050
|
NM_000338.3(SLC12A1):c.*862A>G
|
rs565665101
|
0.00049
|
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)
|
rs141106709
|
0.00048
|
NM_000085.5(CLCNKB):c.656-31del
|
rs751608665
|
0.00046
|
NM_153766.3(KCNJ1):c.*88G>A
|
rs117795695
|
0.00043
|
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu)
|
rs185212943
|
0.00043
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr)
|
rs387907405
|
0.00041
|
NM_057176.3(BSND):c.597T>C (p.Asp199=)
|
rs200886926
|
0.00040
|
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met)
|
rs117535913
|
0.00039
|
NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=)
|
rs201501478
|
0.00035
|
NM_057176.3(BSND):c.309G>C (p.Glu103Asp)
|
rs200246335
|
0.00034
|
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)
|
rs137853159
|
0.00033
|
NM_057176.3(BSND):c.69G>A (p.Thr23=)
|
rs368632305
|
0.00032
|
NM_153766.3(KCNJ1):c.798C>A (p.Thr266=)
|
rs139777470
|
0.00029
|
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr)
|
rs138382420
|
0.00026
|
NM_153766.3(KCNJ1):c.*964A>G
|
rs535158112
|
0.00025
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp)
|
rs145862077
|
0.00022
|
NM_057176.3(BSND):c.237C>T (p.Gly79=)
|
rs528075528
|
0.00022
|
NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala)
|
rs138440917
|
0.00022
|
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser)
|
rs142360465
|
0.00021
|
NM_057176.3(BSND):c.635A>G (p.Asn212Ser)
|
rs200071888
|
0.00021
|
NM_057176.3(BSND):c.548+10T>C
|
rs369882063
|
0.00020
|
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=)
|
rs200417237
|
0.00019
|
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu)
|
rs180847164
|
0.00019
|
NM_000338.3(SLC12A1):c.724+547C>T
|
rs377680472
|
0.00019
|
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)
|
rs74315289
|
0.00016
|
NM_057176.3(BSND):c.9C>T (p.Asp3=)
|
rs141111550
|
0.00016
|
NM_000085.5(CLCNKB):c.2016+19C>T
|
rs575143198
|
0.00015
|
NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile)
|
rs141900128
|
0.00015
|
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys)
|
rs370908136
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
NM_057176.3(BSND):c.282C>T (p.Pro94=)
|
rs776609285
|
0.00014
|
NM_057176.3(BSND):c.763G>C (p.Glu255Gln)
|
rs148609746
|
0.00014
|
NM_153766.3(KCNJ1):c.-21-2167T>C
|
rs200666281
|
0.00014
|
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=)
|
rs140705060
|
0.00013
|
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=)
|
rs185493054
|
0.00013
|
NM_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu)
|
rs768048553
|
0.00013
|
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=)
|
rs199877869
|
0.00013
|
NM_000338.3(SLC12A1):c.381C>T (p.Asn127=)
|
rs370459859
|
0.00013
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
NM_057176.3(BSND):c.872A>G (p.Glu291Gly)
|
rs146313023
|
0.00013
|
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His)
|
rs765895186
|
0.00012
|
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=)
|
rs141643222
|
0.00012
|
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=)
|
rs142886182
|
0.00011
|
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln)
|
rs144177117
|
0.00011
|
NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu)
|
rs772354744
|
0.00011
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_004070.4(CLCNKA):c.867-8C>T
|
rs200325856
|
0.00011
|
NM_057176.3(BSND):c.831G>A (p.Glu277=)
|
rs143916830
|
0.00011
|
NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly)
|
rs748305494
|
0.00011
|
NM_000338.3(SLC12A1):c.*436C>G
|
rs894483558
|
0.00010
|
NM_000338.3(SLC12A1):c.724+15A>T
|
rs762041441
|
0.00010
|
NM_057176.3(BSND):c.457G>A (p.Asp153Asn)
|
rs202128855
|
0.00010
|
NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe)
|
rs188249669
|
0.00010
|
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)
|
rs121909136
|
0.00009
|
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile)
|
rs745782009
|
0.00009
|
NM_000338.3(SLC12A1):c.462C>T (p.Asn154=)
|
rs765175595
|
0.00009
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_057176.3(BSND):c.843G>A (p.Ser281=)
|
rs373929319
|
0.00009
|
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val)
|
rs371971275
|
0.00008
|
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)
|
rs202064075
|
0.00008
|
NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg)
|
rs201176686
|
0.00008
|
NM_000338.3(SLC12A1):c.2106C>T (p.His702=)
|
rs761397379
|
0.00007
|
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln)
|
rs141652885
|
0.00007
|
NM_057176.3(BSND):c.225A>G (p.Pro75=)
|
rs755110588
|
0.00007
|
NM_153766.3(KCNJ1):c.506G>A (p.Arg169His)
|
rs759992526
|
0.00007
|
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr)
|
rs553594726
|
0.00006
|
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter)
|
rs370221310
|
0.00006
|
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)
|
rs121909132
|
0.00006
|
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)
|
rs201781905
|
0.00006
|
NM_000338.3(SLC12A1):c.*50A>C
|
rs753708701
|
0.00006
|
NM_000338.3(SLC12A1):c.1216-13T>A
|
rs200223149
|
0.00006
|
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=)
|
rs140636270
|
0.00006
|
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)
|
rs137853157
|
0.00006
|
NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met)
|
rs191148564
|
0.00006
|
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly)
|
rs369637809
|
0.00006
|
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr)
|
rs201516084
|
0.00006
|
NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr)
|
rs772170109
|
0.00006
|
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser)
|
rs372350814
|
0.00006
|
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr)
|
rs116848967
|
0.00006
|
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)
|
rs559626481
|
0.00006
|
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)
|
rs202069201
|
0.00006
|
NM_057176.3(BSND):c.*6T>C
|
rs775078862
|
0.00006
|
NM_057176.3(BSND):c.842C>T (p.Ser281Leu)
|
rs781101708
|
0.00006
|
NM_057176.3(BSND):c.893G>A (p.Gly298Glu)
|
rs180858237
|
0.00006
|
NM_153766.3(KCNJ1):c.*737T>C
|
rs907072165
|
0.00006
|
NM_153766.3(KCNJ1):c.*83G>A
|
rs998934787
|
0.00006
|
NM_153766.3(KCNJ1):c.-21-2258G>A
|
rs886047986
|
0.00006
|
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)
|
rs201707868
|
0.00006
|
NM_153766.3(KCNJ1):c.705C>T (p.Asp235=)
|
rs142030262
|
0.00006
|
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=)
|
rs139304412
|
0.00005
|
NM_000338.3(SLC12A1):c.-100C>T
|
rs886051211
|
0.00005
|
NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=)
|
rs373172332
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_057176.3(BSND):c.673C>T (p.Gln225Ter)
|
rs776107884
|
0.00005
|
NM_057176.3(BSND):c.770A>G (p.Gln257Arg)
|
rs199696535
|
0.00005
|
NM_057176.3(BSND):c.909C>T (p.Ala303=)
|
rs756452755
|
0.00005
|
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr)
|
rs371548242
|
0.00004
|
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=)
|
rs757343183
|
0.00004
|
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg)
|
rs769163950
|
0.00004
|
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)
|
rs755714542
|
0.00004
|
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
|
rs121909133
|
0.00004
|
NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys)
|
rs779196821
|
0.00004
|
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu)
|
rs370019965
|
0.00004
|
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp)
|
rs777305169
|
0.00004
|
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)
|
rs377215024
|
0.00004
|
NM_000338.3(SLC12A1):c.1561-8T>G
|
rs778539276
|
0.00004
|
NM_000338.3(SLC12A1):c.1786+18C>T
|
rs750119347
|
0.00004
|
NM_000338.3(SLC12A1):c.2028C>T (p.His676=)
|
rs145784441
|
0.00004
|
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro)
|
rs375157909
|
0.00004
|
NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe)
|
rs752324675
|
0.00004
|
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser)
|
rs145003411
|
0.00004
|
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=)
|
rs376830687
|
0.00004
|
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln)
|
rs747229048
|
0.00004
|
NM_057176.3(BSND):c.*15G>A
|
rs777675138
|
0.00004
|
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)
|
rs74315285
|
0.00004
|
NM_057176.3(BSND):c.3G>A (p.Met1Ile)
|
rs74315286
|
0.00004
|
NM_057176.3(BSND):c.411G>A (p.Gly137=)
|
rs758111009
|
0.00004
|
NM_057176.3(BSND):c.482C>T (p.Ala161Val)
|
rs369618892
|
0.00004
|
NM_057176.3(BSND):c.744G>A (p.Thr248=)
|
rs754819005
|
0.00004
|
NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys)
|
rs139738175
|
0.00004
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)
|
rs375288190
|
0.00003
|
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val)
|
rs146627440
|
0.00003
|
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu)
|
rs121909131
|
0.00003
|
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=)
|
rs759045664
|
0.00003
|
NM_000338.3(SLC12A1):c.*40C>T
|
rs763944699
|
0.00003
|
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala)
|
rs772144467
|
0.00003
|
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg)
|
rs758166864
|
0.00003
|
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)
|
rs765347751
|
0.00003
|
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=)
|
rs199833808
|
0.00003
|
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile)
|
rs139589325
|
0.00003
|
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His)
|
rs942607677
|
0.00003
|
NM_000338.3(SLC12A1):c.816T>C (p.Val272=)
|
rs369827965
|
0.00003
|
NM_057176.3(BSND):c.-34G>A
|
rs768683733
|
0.00003
|
NM_057176.3(BSND):c.126C>T (p.Ser42=)
|
rs138152773
|
0.00003
|
NM_057176.3(BSND):c.216C>A (p.Ile72=)
|
rs755897497
|
0.00003
|
NM_057176.3(BSND):c.261C>T (p.Ala87=)
|
rs747359694
|
0.00003
|
NM_057176.3(BSND):c.287C>T (p.Pro96Leu)
|
rs765579274
|
0.00003
|
NM_057176.3(BSND):c.294T>C (p.Tyr98=)
|
rs1188080726
|
0.00003
|
NM_057176.3(BSND):c.514G>A (p.Glu172Lys)
|
rs774559680
|
0.00003
|
NM_057176.3(BSND):c.547G>A (p.Gly183Ser)
|
rs750027126
|
0.00003
|
NM_057176.3(BSND):c.64G>A (p.Gly22Ser)
|
rs145048739
|
0.00003
|
NM_057176.3(BSND):c.696G>A (p.Arg232=)
|
rs886046424
|
0.00003
|
NM_057176.3(BSND):c.917T>C (p.Leu306Pro)
|
rs139049536
|
0.00003
|
NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met)
|
rs373367600
|
0.00003
|
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu)
|
rs373745258
|
0.00003
|
NM_153766.3(KCNJ1):c.626G>A (p.Gly209Glu)
|
rs761781140
|
0.00003
|
NM_153766.3(KCNJ1):c.792G>A (p.Ala264=)
|
rs567888166
|
0.00003
|
NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile)
|
rs762988627
|
0.00003
|
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter)
|
rs377205432
|
0.00003
|
NM_000085.5(CLCNKB):c.782-2A>G
|
rs779908241
|
0.00002
|
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln)
|
rs746767761
|
0.00002
|
NM_000338.3(SLC12A1):c.-113A>C
|
rs546606004
|
0.00002
|
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys)
|
rs1486744140
|
0.00002
|
NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu)
|
rs781250971
|
0.00002
|
NM_000338.3(SLC12A1):c.3164+1G>A
|
rs756057922
|
0.00002
|
NM_000338.3(SLC12A1):c.421-15A>G
|
rs148912103
|
0.00002
|
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)
|
rs121908144
|
0.00002
|
NM_057176.3(BSND):c.417G>A (p.Pro139=)
|
rs776717215
|
0.00002
|
NM_057176.3(BSND):c.546C>T (p.Pro182=)
|
rs375551000
|
0.00002
|
NM_057176.3(BSND):c.97G>C (p.Val33Leu)
|
rs754523289
|
0.00002
|
NM_153766.3(KCNJ1):c.*348C>T
|
rs368293891
|
0.00002
|
NM_153766.3(KCNJ1):c.-21-2122C>T
|
rs111249880
|
0.00002
|
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val)
|
rs104894246
|
0.00002
|
NM_000085.5(CLCNKB):c.1046C>A (p.Ala349Asp)
|
rs121909134
|
0.00001
|
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs)
|
rs775637637
|
0.00001
|
NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys)
|
rs1400122692
|
0.00001
|
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)
|
rs370985865
|
0.00001
|
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His)
|
rs387907411
|
0.00001
|
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His)
|
rs779327388
|
0.00001
|
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser)
|
rs2023168679
|
0.00001
|
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)
|
rs779593707
|
0.00001
|
NM_000338.3(SLC12A1):c.-68G>T
|
rs146990469
|
0.00001
|
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly)
|
rs1567314296
|
0.00001
|
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=)
|
rs769806467
|
0.00001
|
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)
|
rs780619649
|
0.00001
|
NM_000338.3(SLC12A1):c.1652C>T (p.Thr551Ile)
|
rs1186967754
|
0.00001
|
NM_000338.3(SLC12A1):c.2042+2T>A
|
rs1400209959
|
0.00001
|
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn)
|
rs528775721
|
0.00001
|
NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys)
|
rs560432597
|
0.00001
|
NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=)
|
rs147684303
|
0.00001
|
NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val)
|
rs749753790
|
0.00001
|
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly)
|
rs774989723
|
0.00001
|
NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=)
|
rs771458863
|
0.00001
|
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs)
|
rs1057520302
|
0.00001
|
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His)
|
rs537641866
|
0.00001
|
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu)
|
rs886051214
|
0.00001
|
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met)
|
rs1300706094
|
0.00001
|
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp)
|
rs1473447476
|
0.00001
|
NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn)
|
rs2041199987
|
0.00001
|
NM_000338.3(SLC12A1):c.610G>T (p.Val204Phe)
|
rs1442023118
|
0.00001
|
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)
|
rs781209989
|
0.00001
|
NM_001126108.2(SLC12A3):c.506-1G>A
|
rs201555148
|
0.00001
|
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)
|
rs121909138
|
0.00001
|
NM_057176.3(BSND):c.*56T>C
|
rs1445213570
|
0.00001
|
NM_057176.3(BSND):c.-175C>T
|
rs886046422
|
0.00001
|
NM_057176.3(BSND):c.183C>T (p.Thr61=)
|
rs377452238
|
0.00001
|
NM_057176.3(BSND):c.288G>A (p.Pro96=)
|
rs752911029
|
0.00001
|
NM_057176.3(BSND):c.402del (p.Glu135fs)
|
rs1281690580
|
0.00001
|
NM_057176.3(BSND):c.501C>T (p.Gly167=)
|
rs1463073048
|
0.00001
|
NM_057176.3(BSND):c.670C>A (p.Pro224Thr)
|
rs1465563174
|
0.00001
|
NM_057176.3(BSND):c.713T>A (p.Phe238Tyr)
|
rs752564097
|
0.00001
|
NM_057176.3(BSND):c.737C>T (p.Ala246Val)
|
rs926142735
|
0.00001
|
NM_057176.3(BSND):c.915C>A (p.Asp305Glu)
|
rs1456638401
|
0.00001
|
NM_153766.3(KCNJ1):c.*382G>A
|
rs528451227
|
0.00001
|
NM_153766.3(KCNJ1):c.*553C>T
|
rs529944463
|
0.00001
|
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys)
|
rs387907439
|
0.00001
|
NM_153766.3(KCNJ1):c.35G>A (p.Arg12His)
|
rs566704910
|
0.00001
|
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu)
|
rs104894254
|
0.00001
|
NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp)
|
rs779864905
|
0.00001
|
NM_153766.3(KCNJ1):c.706G>A (p.Ala236Thr)
|
rs147621487
|
0.00001
|
NM_153766.3(KCNJ1):c.732C>T (p.Ile244=)
|
rs886047985
|
0.00001
|
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)
|
rs746509804
|
0.00001
|
NM_153766.3(KCNJ1):c.87G>A (p.Arg29=)
|
rs909572402
|
0.00001
|
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)
|
rs753949204
|
0.00001
|
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
|
|
|
GRCh37/hg19 1p36.13(chr1:16370960-16383841)
|
|
|
GRCh37/hg19 1p36.13(chr1:16372179-16388605)
|
|
|
KCNJ1, TRP58TER
|
|
|
NC_000001.11:g.(?_16043782)_(16057326_?)del
|
|
|
NM_000085.5(CLCNKB):c.1026del (p.Ser343fs)
|
|
|
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His)
|
rs121909135
|
|
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
|
|
|
NM_000085.5(CLCNKB):c.1324G>A (p.Glu442Lys)
|
|
|
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)
|
rs1180658535
|
|
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs)
|
rs1057516207
|
|
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val)
|
rs1570340095
|
|
NM_000085.5(CLCNKB):c.1408G>T (p.Gly470Trp)
|
rs2124102347
|
|
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs)
|
rs1159737562
|
|
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)
|
rs1570341086
|
|
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs)
|
rs767271426
|
|
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer)
|
rs863224858
|
|
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)
|
rs953686324
|
|
NM_000085.5(CLCNKB):c.2017-16C>T
|
rs61769892
|
|
NM_000085.5(CLCNKB):c.2017-28G>C
|
rs12746138
|
|
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=)
|
rs6698427
|
|
NM_000085.5(CLCNKB):c.209C>A (p.Ala70Asp)
|
|
|
NM_000085.5(CLCNKB):c.230-59G>A
|
rs2014841
|
|
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg)
|
rs2023105293
|
|
NM_000085.5(CLCNKB):c.359-70A>G
|
rs945403
|
|
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser)
|
rs1557468183
|
|
NM_000085.5(CLCNKB):c.619del (p.Val207fs)
|
|
|
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly)
|
rs71493533
|
|
NM_000085.5(CLCNKB):c.652A>C (p.Ser218Arg)
|
rs2124091421
|
|
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)
|
rs1570334344
|
|
NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu)
|
rs2015352
|
|
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=)
|
rs1570335636
|
|
NM_000085.5(CLCNKB):c.866+47del
|
rs34589727
|
|
NM_000085.5(CLCNKB):c.968+47T>C
|
rs7368166
|
|
NM_000085.5:c.(?_-1)_(*1_?)del
|
|
|
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
|
|
|
NM_000338.3(SLC12A1):c.*1179A>T
|
rs886051218
|
|
NM_000338.3(SLC12A1):c.*216A>C
|
rs2042253972
|
|
NM_000338.3(SLC12A1):c.*496C>T
|
rs2042256118
|
|
NM_000338.3(SLC12A1):c.*590T>C
|
rs886051216
|
|
NM_000338.3(SLC12A1):c.*593A>G
|
rs2042256892
|
|
NM_000338.3(SLC12A1):c.*629G>A
|
rs2042257197
|
|
NM_000338.3(SLC12A1):c.*921T>C
|
rs886051217
|
|
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs)
|
rs1057520300
|
|
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)
|
rs779588655
|
|
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)
|
|
|
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile)
|
rs886051212
|
|
NM_000338.3(SLC12A1):c.1300+5G>A
|
rs894215559
|
|
NM_000338.3(SLC12A1):c.1307G>A (p.Cys436Tyr)
|
|
|
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala)
|
rs1036163503
|
|
NM_000338.3(SLC12A1):c.1468T>G (p.Ser490Ala)
|
rs2041588755
|
|
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=)
|
rs371242796
|
|
NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile)
|
|
|
NM_000338.3(SLC12A1):c.1610G>C (p.Gly537Ala)
|
|
|
NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro)
|
rs1370120380
|
|
NM_000338.3(SLC12A1):c.1684+1G>A
|
|
|
NM_000338.3(SLC12A1):c.1685-2A>G
|
|
|
NM_000338.3(SLC12A1):c.1757G>A (p.Cys586Tyr)
|
|
|
NM_000338.3(SLC12A1):c.1832_1833del (p.Phe611fs)
|
rs1057520304
|
|
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs)
|
rs1057520304
|
|
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg)
|
rs2041650191
|
|
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp)
|
rs1057520301
|
|
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys)
|
rs2041651233
|
|
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe)
|
rs563102186
|
|
NM_000338.3(SLC12A1):c.1927del (p.Thr643fs)
|
rs2141064916
|
|
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
|
|
|
NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val)
|
rs2041701051
|
|
NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu)
|
|
|
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr)
|
rs143141941
|
|
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs)
|
rs1057519608
|
|
NM_000338.3(SLC12A1):c.2155-10T>A
|
rs762650284
|
|
NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys)
|
rs1175659978
|
|
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter)
|
rs1048935147
|
|
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs)
|
rs758961147
|
|
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His)
|
rs1356365433
|
|
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg)
|
rs201516084
|
|
NM_000338.3(SLC12A1):c.2456T>C (p.Phe819Ser)
|
|
|
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro)
|
rs752454522
|
|
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs)
|
rs1057520303
|
|
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu)
|
rs140747686
|
|
NM_000338.3(SLC12A1):c.2669A>G (p.Glu890Gly)
|
|
|
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs)
|
|
|
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)
|
|
|
NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=)
|
rs886051213
|
|
NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val)
|
rs2042082680
|
|
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs)
|
rs776749406
|
|
NM_000338.3(SLC12A1):c.2810A>G (p.Lys937Arg)
|
|
|
NM_000338.3(SLC12A1):c.2834_2873+12del
|
rs1566857461
|
|
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu)
|
rs1254425688
|
|
NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=)
|
rs886051215
|
|
NM_000338.3(SLC12A1):c.3003T>A (p.His1001Gln)
|
|
|
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser)
|
rs746030141
|
|
NM_000338.3(SLC12A1):c.3165-5A>T
|
rs767198562
|
|
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile)
|
rs770328592
|
|
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser)
|
rs747096443
|
|
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter)
|
rs773855120
|
|
NM_000338.3(SLC12A1):c.421-1G>A
|
|
|
NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn)
|
|
|
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly)
|
|
|
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala)
|
rs2041289926
|
|
NM_000338.3(SLC12A1):c.724+4A>G
|
rs774515747
|
|
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala)
|
rs367562995
|
|
NM_000338.3(SLC12A1):c.760C>T (p.Pro254Ser)
|
rs367562995
|
|
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe)
|
rs137853158
|
|
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp)
|
rs886039870
|
|
NM_000338.3(SLC12A1):c.975+1G>A
|
|
|
NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]
|
|
|
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
|
|
|
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)
|
rs2107627458
|
|
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)
|
rs1453953571
|
|
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)
|
rs104893706
|
|
NM_000388.4(CASR):c.2710G>C (p.Gly904Arg)
|
rs2074943924
|
|
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)
|
rs1244383237
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.393C>G (p.Cys131Trp)
|
rs121909267
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000388.4(CASR):c.85A>G (p.Lys29Glu)
|
rs397514729
|
|
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)
|
rs776210036
|
|
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser)
|
rs2055210264
|
|
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys)
|
rs777612082
|
|
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)
|
rs1451284628
|
|
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)
|
rs750710315
|
|
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile)
|
rs1424832490
|
|
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val)
|
rs1964378547
|
|
NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr)
|
rs1805152
|
|
NM_004070.4(CLCNKA):c.1408+13C>T
|
rs3737218
|
|
NM_004070.4(CLCNKA):c.1425_1426del (p.Ala477fs)
|
|
|
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro)
|
rs762119830
|
|
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu)
|
rs773206825
|
|
NM_004070.4(CLCNKA):c.1885G>T (p.Glu629Ter)
|
|
|
NM_004070.4(CLCNKA):c.1929+30C>A
|
rs10927892
|
|
NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)
|
|
|
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys)
|
rs121909137
|
|
NM_057176.3(BSND):c.10G>A (p.Glu4Lys)
|
rs121908145
|
|
NM_057176.3(BSND):c.10G>T (p.Glu4Ter)
|
rs121908145
|
|
NM_057176.3(BSND):c.157_177+20del
|
rs1389952796
|
|
NM_057176.3(BSND):c.1A>T (p.Met1Leu)
|
rs74315284
|
|
NM_057176.3(BSND):c.214A>T (p.Ile72Phe)
|
rs1644382614
|
|
NM_057176.3(BSND):c.23G>T (p.Arg8Leu)
|
rs74315288
|
|
NM_057176.3(BSND):c.262G>T (p.Glu88Ter)
|
rs771232166
|
|
NM_057176.3(BSND):c.272+1G>T
|
rs1007109925
|
|
NM_057176.3(BSND):c.273-887_*576del
|
|
|
NM_057176.3(BSND):c.27C>T (p.Ile9=)
|
rs371937424
|
|
NM_057176.3(BSND):c.28G>A (p.Gly10Ser)
|
rs74315287
|
|
NM_057176.3(BSND):c.306G>T (p.Trp102Cys)
|
rs1644394690
|
|
NM_057176.3(BSND):c.393G>A (p.Leu131=)
|
rs201387711
|
|
NM_057176.3(BSND):c.393G>T (p.Leu131Phe)
|
rs201387711
|
|
NM_057176.3(BSND):c.409G>C (p.Gly137Arg)
|
rs749600956
|
|
NM_057176.3(BSND):c.452del (p.Pro151fs)
|
rs765135576
|
|
NM_057176.3(BSND):c.467C>A (p.Ala156Asp)
|
rs1644395855
|
|
NM_057176.3(BSND):c.52C>G (p.Leu18Val)
|
rs754403589
|
|
NM_057176.3(BSND):c.572C>T (p.Pro191Leu)
|
rs1184835309
|
|
NM_057176.3(BSND):c.604G>A (p.Asp202Asn)
|
rs886046423
|
|
NM_057176.3(BSND):c.64G>C (p.Gly22Arg)
|
rs145048739
|
|
NM_057176.3(BSND):c.758C>T (p.Pro253Leu)
|
rs1644403055
|
|
NM_057176.3(BSND):c.810C>T (p.Tyr270=)
|
rs1451582678
|
|
NM_057176.3(BSND):c.859G>T (p.Glu287Ter)
|
rs376784896
|
|
NM_057176.3(BSND):c.868A>G (p.Lys290Glu)
|
rs1285206495
|
|
NM_153766.3(KCNJ1):c.*1C>G
|
|
|
NM_153766.3(KCNJ1):c.*452G>A
|
rs886047984
|
|
NM_153766.3(KCNJ1):c.*968T>A
|
rs565893144
|
|
NM_153766.3(KCNJ1):c.-9A>G
|
|
|
NM_153766.3(KCNJ1):c.1001del (p.Pro334fs)
|
rs768286324
|
|
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
|
|
|
NM_153766.3(KCNJ1):c.156G>C (p.Thr52=)
|
rs141393013
|
|
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter)
|
rs104894244
|
|
NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)
|
|
|
NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)
|
|
|
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)
|
|
|
NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter)
|
rs185212943
|
|
NM_153766.3(KCNJ1):c.265G>C (p.Asp89His)
|
rs104894250
|
|
NM_153766.3(KCNJ1):c.27C>T (p.Val9=)
|
rs759301135
|
|
NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)
|
|
|
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys)
|
rs104894251
|
|
NM_153766.3(KCNJ1):c.361G>A (p.Val121Met)
|
|
|
NM_153766.3(KCNJ1):c.42dup (p.Gly15fs)
|
rs2135941091
|
|
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
|
|
|
NM_153766.3(KCNJ1):c.504del (p.Lys168fs)
|
rs769554073
|
|
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser)
|
rs138120505
|
|
NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)
|
|
|
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)
|
|
|
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)
|
rs104894253
|
|
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln)
|
rs1380025163
|
|
NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)
|
rs150299230
|
|
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg)
|
rs104894245
|
|
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg)
|
rs1411280373
|
|
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)
|
|
|
NM_153766.3(KCNJ1):c.798C>T (p.Thr266=)
|
rs139777470
|
|
NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)
|
|
|
NM_153766.3(KCNJ1):c.842C>G (p.Thr281Arg)
|
rs762988627
|
|
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)
|
|
|
NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu)
|
rs746292586
|
|
NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg)
|
rs1943225988
|
|
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)
|
rs878854404
|
|
NM_177433.3(MAGED2):c.1271+4_1271+7del
|
|
|
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)
|
rs878854407
|
|
NM_177433.3(MAGED2):c.1386+1G>A
|
|
|
NM_177433.3(MAGED2):c.1425C>G (p.Tyr475Ter)
|
|
|
NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)
|
|
|
NM_177433.3(MAGED2):c.386_387del (p.Val129fs)
|
rs878854406
|
|
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)
|
rs875989852
|
|
NM_177433.3(MAGED2):c.968G>A (p.Arg323Gln)
|
|
|
NM_177433.3(MAGED2):c.990G>A (p.Lys330=)
|
|
|
NM_177433.3(MAGED2):c.991-2A>G
|
rs878854405
|
|
Single allele
|
|
|