NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)
|
rs1529927
|
0.97710
|
NM_001126108.2(SLC12A3):c.2634-127T>C
|
rs9922270
|
0.96546
|
NM_001126108.2(SLC12A3):c.429+160A>T
|
rs2304480
|
0.83480
|
NC_000016.10:g.56865094C>T
|
rs4784733
|
0.71106
|
NM_001126108.2(SLC12A3):c.*664G>C
|
rs5808
|
0.62518
|
NM_001126108.2(SLC12A3):c.*931C>T
|
rs37030
|
0.60253
|
NM_001126108.2(SLC12A3):c.*1851A>G
|
rs37029
|
0.60231
|
NM_001126108.2(SLC12A3):c.2419+131G>A
|
rs12443855
|
0.59934
|
NM_001126108.2(SLC12A3):c.*404C>T
|
rs37031
|
0.58188
|
NM_001126108.2(SLC12A3):c.*1524C>T
|
rs3812964
|
0.57598
|
NM_001126108.2(SLC12A3):c.*516T>A
|
rs11861555
|
0.49704
|
NM_001126108.2(SLC12A3):c.1670-8T>C
|
rs2304483
|
0.48985
|
NM_001126108.2(SLC12A3):c.2924+13C>T
|
rs2289115
|
0.34518
|
NM_001126108.2(SLC12A3):c.2857-309T>C
|
rs12447287
|
0.34500
|
NM_001126108.2(SLC12A3):c.2179-151A>T
|
rs12918360
|
0.34153
|
NM_001126108.2(SLC12A3):c.2720+207C>T
|
rs2304481
|
0.31007
|
NM_001126108.2(SLC12A3):c.*1301A>C
|
rs9927820
|
0.29170
|
NM_001126108.2(SLC12A3):c.2634-222A>G
|
rs12448372
|
0.25380
|
NM_001126108.2(SLC12A3):c.2521+362A>C
|
rs28728226
|
0.22833
|
NM_001126108.2(SLC12A3):c.1670-503C>G
|
rs2004916
|
0.22763
|
NM_001126108.2(SLC12A3):c.2633+121C>A
|
rs2289118
|
0.22218
|
NM_001126108.2(SLC12A3):c.2633+151A>C
|
rs9921308
|
0.22218
|
NM_001126108.2(SLC12A3):c.2522-227C>T
|
rs12445698
|
0.22205
|
NM_001126108.2(SLC12A3):c.2522-261G>A
|
rs12445505
|
0.22191
|
NM_001126108.2(SLC12A3):c.2856+238A>G
|
rs80159054
|
0.21412
|
NM_001126108.2(SLC12A3):c.1826-104G>A
|
rs11076172
|
0.18900
|
NM_001126108.2(SLC12A3):c.853-257C>T
|
rs13337205
|
0.18735
|
NM_001126108.2(SLC12A3):c.2721-13T>C
|
rs34772420
|
0.18153
|
NM_001126108.2(SLC12A3):c.2856+143A>G
|
rs16963520
|
0.17855
|
NM_001126108.2(SLC12A3):c.1336-35C>T
|
rs3816119
|
0.17459
|
NM_001126108.2(SLC12A3):c.1181-82C>T
|
rs2289119
|
0.17344
|
NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=)
|
rs5801
|
0.15318
|
NM_001126108.2(SLC12A3):c.2857-17G>A
|
rs2289116
|
0.13711
|
NM_001126108.2(SLC12A3):c.2857-291A>G
|
rs12446689
|
0.13219
|
NM_001126108.2(SLC12A3):c.1095+255del
|
rs55822178
|
0.12785
|
NM_001126108.2(SLC12A3):c.283-51C>T
|
rs13306673
|
0.12692
|
NM_001126108.2(SLC12A3):c.2521+278C>T
|
rs16963395
|
0.12416
|
NM_001126108.2(SLC12A3):c.2521+346C>A
|
rs3214654
|
0.12368
|
NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=)
|
rs5803
|
0.11388
|
NM_001126108.2(SLC12A3):c.2179-8C>T
|
rs13306676
|
0.11191
|
NM_001126108.2(SLC12A3):c.*975A>G
|
rs56079121
|
0.11158
|
NM_001126108.2(SLC12A3):c.1926-172G>A
|
rs12444694
|
0.10747
|
NC_000016.10:g.56865095G>C
|
rs13306690
|
0.09934
|
NM_001126108.2(SLC12A3):c.*1674C>T
|
rs3812963
|
0.09905
|
NM_001126108.2(SLC12A3):c.2369-101C>T
|
rs2304482
|
0.09836
|
NM_001126108.2(SLC12A3):c.1567+563C>T
|
rs76871795
|
0.09785
|
NM_001126108.2(SLC12A3):c.2521+330C>T
|
rs55980617
|
0.09698
|
NM_001126108.2(SLC12A3):c.2633+322A>C
|
rs62035952
|
0.09618
|
NM_001126108.2(SLC12A3):c.2286-26C>T
|
rs3764264
|
0.09599
|
NM_001126108.2(SLC12A3):c.1096-28T>C
|
rs751086324
|
0.09218
|
NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=)
|
rs5804
|
0.09125
|
NM_001126108.2(SLC12A3):c.2522-166C>T
|
rs13306678
|
0.09048
|
NM_001126108.2(SLC12A3):c.2633+209C>T
|
rs79736754
|
0.09041
|
NM_001126108.2(SLC12A3):c.2419+150G>A
|
rs13306677
|
0.08882
|
NM_001126108.2(SLC12A3):c.506-289G>A
|
rs28567490
|
0.08533
|
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln)
|
rs11643718
|
0.08381
|
NM_001126108.2(SLC12A3):c.1925+72C>G
|
rs12596776
|
0.08327
|
NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=)
|
rs5802
|
0.08069
|
NM_001126108.2(SLC12A3):c.2369-70T>C
|
rs13336667
|
0.07407
|
NM_001126108.2(SLC12A3):c.2856+38A>G
|
rs2289117
|
0.06999
|
NM_001126108.2(SLC12A3):c.2634-33G>A
|
rs13306687
|
0.06655
|
NM_001126108.2(SLC12A3):c.1567+190C>T
|
rs2304484
|
0.06357
|
NM_001126108.2(SLC12A3):c.2037+181G>A
|
rs13306671
|
0.06167
|
NM_001126108.2(SLC12A3):c.1926-130G>A
|
rs55901950
|
0.06034
|
NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=)
|
rs2304479
|
0.05592
|
NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=)
|
rs2229209
|
0.04172
|
NM_001126108.2(SLC12A3):c.852+224G>A
|
rs73557782
|
0.03724
|
NM_001126108.2(SLC12A3):c.1825+9C>A
|
rs35797045
|
0.03711
|
NM_001126108.2(SLC12A3):c.2522-339A>G
|
rs111542828
|
0.03677
|
NM_001126108.2(SLC12A3):c.2856+148T>C
|
rs16963522
|
0.03569
|
NM_001126108.2(SLC12A3):c.2856+269_2856+270del
|
rs571731386
|
0.03487
|
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys)
|
rs12708965
|
0.03475
|
NM_001126108.2(SLC12A3):c.1567+393A>G
|
rs34526342
|
0.03465
|
NM_001126108.2(SLC12A3):c.1444-167G>A
|
rs71387141
|
0.03444
|
NM_001126108.2(SLC12A3):c.1825+43G>A
|
rs71387143
|
0.03426
|
NM_001126108.2(SLC12A3):c.2857-178T>A
|
rs35849304
|
0.03357
|
NM_001126108.2(SLC12A3):c.1444-17G>A
|
rs71387142
|
0.03307
|
NM_001126108.2(SLC12A3):c.1096-32T>C
|
rs763657724
|
0.03200
|
NM_001126108.2(SLC12A3):c.2521+357A>T
|
rs8055809
|
0.03169
|
NM_001126108.2(SLC12A3):c.2857-173C>T
|
rs17367381
|
0.03080
|
NM_001126108.2(SLC12A3):c.2720+255G>A
|
rs35037621
|
0.03016
|
NM_001126108.2(SLC12A3):c.2178+35C>T
|
rs8056861
|
0.02842
|
NM_001126108.2(SLC12A3):c.282+79T>G
|
rs999662
|
0.02643
|
NM_001126108.2(SLC12A3):c.2857-160T>G
|
rs35517929
|
0.02312
|
NM_001126108.2(SLC12A3):c.*1204T>C
|
rs116537640
|
0.02034
|
NM_001126108.2(SLC12A3):c.*2432T>C
|
rs115344087
|
0.02023
|
NM_001126108.2(SLC12A3):c.1096-133G>T
|
rs13306688
|
0.01951
|
NM_001126108.2(SLC12A3):c.1926-48C>T
|
rs116284046
|
0.01803
|
NM_001126108.2(SLC12A3):c.965-79G>C
|
rs35516802
|
0.01538
|
NM_001126108.2(SLC12A3):c.282+124G>A
|
rs117898888
|
0.01502
|
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser)
|
rs61746763
|
0.01422
|
NM_001126108.2(SLC12A3):c.*2068C>G
|
rs142540870
|
0.01329
|
NM_001126108.2(SLC12A3):c.282+111G>A
|
rs2304478
|
0.01315
|
NM_001126108.2(SLC12A3):c.602-53A>G
|
rs182150468
|
0.01301
|
NM_001126108.2(SLC12A3):c.852+130C>A
|
rs117160095
|
0.01191
|
NM_001126108.2(SLC12A3):c.1567+290G>A
|
rs148931404
|
0.01145
|
NM_001126108.2(SLC12A3):c.2179-122T>A
|
rs1290166176
|
0.01084
|
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)
|
rs36049418
|
0.01075
|
NM_001126108.2(SLC12A3):c.2521+340A>T
|
rs186377421
|
0.00974
|
NM_001126108.2(SLC12A3):c.1669+49A>G
|
rs76116102
|
0.00838
|
NM_001126108.2(SLC12A3):c.1444-154G>C
|
rs55824420
|
0.00796
|
NM_001126108.2(SLC12A3):c.2857-188T>C
|
rs34287902
|
0.00725
|
NM_001126108.2(SLC12A3):c.2856+142C>T
|
rs78331563
|
0.00724
|
NM_001126108.2(SLC12A3):c.2522-230G>T
|
rs116625467
|
0.00722
|
NM_001126108.2(SLC12A3):c.2522-95A>G
|
rs35892116
|
0.00722
|
NM_001126108.2(SLC12A3):c.2924+221C>T
|
rs35889633
|
0.00693
|
NM_001126108.2(SLC12A3):c.1444-190T>C
|
rs139290131
|
0.00678
|
NM_001126108.2(SLC12A3):c.*1647C>T
|
rs115285739
|
0.00668
|
NM_001126108.2(SLC12A3):c.2633+89A>G
|
rs34336141
|
0.00634
|
NM_001126108.2(SLC12A3):c.2368+232A>G
|
rs115387132
|
0.00626
|
NM_001126108.2(SLC12A3):c.2178+74G>A
|
rs35111879
|
0.00623
|
NM_001126108.2(SLC12A3):c.741+63C>A
|
rs55730196
|
0.00622
|
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=)
|
rs146805986
|
0.00597
|
NM_001126108.2(SLC12A3):c.2857-6G>A
|
rs117981500
|
0.00557
|
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)
|
rs111578437
|
0.00523
|
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg)
|
rs36031476
|
0.00473
|
NM_001126108.2(SLC12A3):c.*1161A>G
|
rs16963782
|
0.00446
|
NM_001126108.2(SLC12A3):c.*752C>T
|
rs8049491
|
0.00434
|
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)
|
rs76750525
|
0.00433
|
NM_001126108.2(SLC12A3):c.2720+270C>G
|
rs116216667
|
0.00433
|
NM_001126108.2(SLC12A3):c.2856+303G>A
|
rs151202921
|
0.00404
|
NM_001126108.2(SLC12A3):c.*2295T>C
|
rs181993451
|
0.00333
|
NM_001126108.2(SLC12A3):c.*1978T>G
|
rs147734763
|
0.00294
|
NM_001126108.2(SLC12A3):c.*576C>G
|
rs139828223
|
0.00271
|
NM_001126108.2(SLC12A3):c.*2405C>T
|
rs769553356
|
0.00258
|
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)
|
rs35005216
|
0.00257
|
NM_001126108.2(SLC12A3):c.2178+36G>A
|
rs118001818
|
0.00241
|
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)
|
rs146834675
|
0.00213
|
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile)
|
rs150358489
|
0.00196
|
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)
|
rs201519016
|
0.00185
|
NM_001126108.2(SLC12A3):c.*1532G>A
|
rs531355050
|
0.00175
|
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)
|
rs147046379
|
0.00175
|
NM_001126108.2(SLC12A3):c.*960A>T
|
rs545337733
|
0.00163
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)
|
rs118121751
|
0.00146
|
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)
|
rs150692587
|
0.00146
|
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)
|
rs34055681
|
0.00143
|
NM_001126108.2(SLC12A3):c.*2320T>A
|
rs186173400
|
0.00129
|
NM_001126108.2(SLC12A3):c.*2030T>C
|
rs540004549
|
0.00121
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001126108.2(SLC12A3):c.1567+7C>T
|
rs376819753
|
0.00101
|
NM_001126108.2(SLC12A3):c.429+9G>A
|
rs375425173
|
0.00101
|
NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=)
|
rs146318329
|
0.00098
|
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)
|
rs34216426
|
0.00098
|
NM_001126108.2(SLC12A3):c.*458T>C
|
rs565029718
|
0.00090
|
NM_001126108.2(SLC12A3):c.1096-42T>C
|
rs375606086
|
0.00087
|
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)
|
rs35070204
|
0.00073
|
NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=)
|
rs149172580
|
0.00072
|
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=)
|
rs149259406
|
0.00069
|
NM_001126108.2(SLC12A3):c.*282T>A
|
rs569410134
|
0.00063
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)
|
rs117987946
|
0.00061
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_001126108.2(SLC12A3):c.2856+7A>G
|
rs1234311228
|
0.00044
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001126108.2(SLC12A3):c.2559G>A (p.Lys853=)
|
rs141144873
|
0.00041
|
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys)
|
rs757776621
|
0.00038
|
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr)
|
rs146845953
|
0.00038
|
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val)
|
rs147517227
|
0.00036
|
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr)
|
rs563131364
|
0.00031
|
NM_001126108.2(SLC12A3):c.1825+5G>A
|
rs368509876
|
0.00029
|
NM_001126108.2(SLC12A3):c.1926-10C>G
|
rs375828467
|
0.00029
|
NM_001126108.2(SLC12A3):c.1180+10C>T
|
rs368574873
|
0.00027
|
NM_001126108.2(SLC12A3):c.742-6C>T
|
rs370741134
|
0.00027
|
NM_001126108.2(SLC12A3):c.408C>T (p.Phe136=)
|
rs142561570
|
0.00026
|
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)
|
rs139329616
|
0.00025
|
NM_001126108.2(SLC12A3):c.*1512G>A
|
rs142981886
|
0.00024
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp)
|
rs56125220
|
0.00023
|
NM_001126108.2(SLC12A3):c.*518T>A
|
rs886052167
|
0.00022
|
NM_001126108.2(SLC12A3):c.*1985G>A
|
rs535923100
|
0.00021
|
NM_001126108.2(SLC12A3):c.*2133T>C
|
rs574216318
|
0.00021
|
NM_001126108.2(SLC12A3):c.2368+18C>A
|
rs370563622
|
0.00021
|
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=)
|
rs375542454
|
0.00020
|
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val)
|
rs201130736
|
0.00019
|
NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=)
|
rs368198835
|
0.00019
|
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu)
|
rs140363569
|
0.00019
|
NM_001126108.2(SLC12A3):c.323G>A (p.Arg108Gln)
|
rs768537535
|
0.00019
|
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)
|
rs201850644
|
0.00019
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_001126108.2(SLC12A3):c.*2423C>T
|
rs545437813
|
0.00016
|
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=)
|
rs147984554
|
0.00016
|
NM_001126108.2(SLC12A3):c.2368+8C>A
|
rs140236327
|
0.00015
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)
|
rs150378634
|
0.00014
|
NM_001126108.2(SLC12A3):c.2364G>A (p.Ala788=)
|
rs761245757
|
0.00012
|
NM_001126108.2(SLC12A3):c.*285T>C
|
rs539777837
|
0.00011
|
NM_001126108.2(SLC12A3):c.-5C>T
|
rs200585631
|
0.00011
|
NM_001126108.2(SLC12A3):c.1361C>T (p.Ala454Val)
|
rs368783800
|
0.00011
|
NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys)
|
rs201804135
|
0.00011
|
NM_001126108.2(SLC12A3):c.1696A>T (p.Asn566Tyr)
|
rs142414514
|
0.00011
|
NM_001126108.2(SLC12A3):c.1731C>T (p.Ser577=)
|
rs374923985
|
0.00011
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val)
|
rs369272221
|
0.00011
|
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=)
|
rs539069621
|
0.00011
|
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys)
|
rs373899077
|
0.00011
|
NM_001126108.2(SLC12A3):c.506-8C>T
|
rs765555468
|
0.00011
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00011
|
NM_001126108.2(SLC12A3):c.*1920A>G
|
rs760358705
|
0.00010
|
NM_001126108.2(SLC12A3):c.*735C>T
|
rs749653890
|
0.00010
|
NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His)
|
rs373163077
|
0.00010
|
NM_001126108.2(SLC12A3):c.1011T>C (p.Asp337=)
|
rs201340564
|
0.00009
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001126108.2(SLC12A3):c.1443+9G>A
|
rs754040092
|
0.00009
|
NM_001126108.2(SLC12A3):c.1476C>T (p.Ile492=)
|
rs370625067
|
0.00009
|
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)
|
rs145337602
|
0.00009
|
NM_001126108.2(SLC12A3):c.2285+7C>T
|
rs774342870
|
0.00009
|
NM_001126108.2(SLC12A3):c.2420-5T>A
|
rs200358117
|
0.00009
|
NM_001126108.2(SLC12A3):c.2672A>G (p.His891Arg)
|
rs745597855
|
0.00009
|
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile)
|
rs373092349
|
0.00009
|
NM_001126108.2(SLC12A3):c.602-16G>A
|
rs750901478
|
0.00009
|
NM_001126108.2(SLC12A3):c.*2051C>T
|
rs569306925
|
0.00008
|
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)
|
rs759532318
|
0.00008
|
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val)
|
rs201341355
|
0.00008
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val)
|
rs79351185
|
0.00008
|
NM_001126108.2(SLC12A3):c.1707G>A (p.Ala569=)
|
rs138625602
|
0.00008
|
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=)
|
rs387907471
|
0.00008
|
NM_001126108.2(SLC12A3):c.1988G>A (p.Gly663Asp)
|
rs368629982
|
0.00008
|
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
|
rs373901523
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001126108.2(SLC12A3):c.825C>T (p.Ser275=)
|
rs140167332
|
0.00008
|
NM_001126108.2(SLC12A3):c.1567+17G>C
|
rs543161188
|
0.00007
|
NM_001126108.2(SLC12A3):c.1742T>C (p.Met581Thr)
|
rs146191537
|
0.00007
|
NM_001126108.2(SLC12A3):c.2521+255G>A
|
rs1037430183
|
0.00007
|
NM_001126108.2(SLC12A3):c.2857-7C>T
|
rs745327566
|
0.00007
|
NM_001126108.2(SLC12A3):c.409G>A (p.Gly137Ser)
|
rs143774019
|
0.00007
|
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala)
|
rs146854174
|
0.00007
|
NM_001126108.2(SLC12A3):c.429+8G>A
|
rs764783539
|
0.00007
|
NM_001126108.2(SLC12A3):c.675C>T (p.Phe225=)
|
rs369387970
|
0.00007
|
NM_001126108.2(SLC12A3):c.*1624C>T
|
rs886052171
|
0.00006
|
NM_001126108.2(SLC12A3):c.*836G>A
|
rs149793899
|
0.00006
|
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)
|
rs187885782
|
0.00006
|
NM_001126108.2(SLC12A3):c.1164C>T (p.Ala388=)
|
rs751046863
|
0.00006
|
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)
|
rs387907472
|
0.00006
|
NM_001126108.2(SLC12A3):c.1368G>A (p.Leu456=)
|
rs139817489
|
0.00006
|
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)
|
rs201945662
|
0.00006
|
NM_001126108.2(SLC12A3):c.1578C>T (p.Asn526=)
|
rs145608606
|
0.00006
|
NM_001126108.2(SLC12A3):c.1774G>A (p.Ala592Thr)
|
rs149644636
|
0.00006
|
NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=)
|
rs777125875
|
0.00006
|
NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=)
|
rs749222099
|
0.00006
|
NM_001126108.2(SLC12A3):c.2595A>C (p.Val865=)
|
rs146730493
|
0.00006
|
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)
|
rs13306666
|
0.00006
|
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)
|
rs559626481
|
0.00006
|
NM_001126108.2(SLC12A3):c.447C>T (p.Asn149=)
|
rs756323602
|
0.00006
|
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)
|
rs201190064
|
0.00006
|
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr)
|
rs201318038
|
0.00006
|
NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys)
|
rs368455032
|
0.00005
|
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=)
|
rs776210036
|
0.00005
|
NM_001126108.2(SLC12A3):c.2037+1G>A
|
rs775799617
|
0.00005
|
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)
|
rs370145822
|
0.00005
|
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)
|
rs752101663
|
0.00005
|
NM_001126108.2(SLC12A3):c.602-4A>T
|
rs761106550
|
0.00005
|
NM_001126108.2(SLC12A3):c.853-12C>T
|
rs376908568
|
0.00005
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00004
|
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)
|
rs371443644
|
0.00004
|
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)
|
rs200091201
|
0.00004
|
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His)
|
rs748652939
|
0.00004
|
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)
|
rs768527231
|
0.00004
|
NM_001126108.2(SLC12A3):c.2514C>T (p.Asp838=)
|
rs142297310
|
0.00004
|
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr)
|
rs752124879
|
0.00004
|
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln)
|
rs56259558
|
0.00004
|
NM_001126108.2(SLC12A3):c.360C>T (p.Gly120=)
|
rs753383791
|
0.00004
|
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)
|
rs374324018
|
0.00004
|
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met)
|
rs779074538
|
0.00004
|
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)
|
rs1274973729
|
0.00004
|
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys)
|
rs374055486
|
0.00004
|
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)
|
rs758035631
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_001126108.2(SLC12A3):c.*2084G>A
|
rs577055452
|
0.00003
|
NM_001126108.2(SLC12A3):c.*2378A>T
|
rs886052176
|
0.00003
|
NM_001126108.2(SLC12A3):c.*349G>A
|
rs886052162
|
0.00003
|
NM_001126108.2(SLC12A3):c.1050G>A (p.Ser350=)
|
rs752171513
|
0.00003
|
NM_001126108.2(SLC12A3):c.1096-1G>A
|
rs749463414
|
0.00003
|
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)
|
rs554432544
|
0.00003
|
NM_001126108.2(SLC12A3):c.1568-4G>A
|
rs374303576
|
0.00003
|
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)
|
rs774753302
|
0.00003
|
NM_001126108.2(SLC12A3):c.1669+5G>A
|
rs779917194
|
0.00003
|
NM_001126108.2(SLC12A3):c.1670-191C>T
|
rs374182921
|
0.00003
|
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)
|
rs779160677
|
0.00003
|
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)
|
rs147901432
|
0.00003
|
NM_001126108.2(SLC12A3):c.2152C>T (p.Arg718Cys)
|
rs777342064
|
0.00003
|
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=)
|
rs776382586
|
0.00003
|
NM_001126108.2(SLC12A3):c.2307T>C (p.Tyr769=)
|
rs751234942
|
0.00003
|
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)
|
rs201255508
|
0.00003
|
NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter)
|
rs1366655422
|
0.00003
|
NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu)
|
rs200253241
|
0.00003
|
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His)
|
rs267607051
|
0.00003
|
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser)
|
rs370301695
|
0.00003
|
NM_001126108.2(SLC12A3):c.2649G>A (p.Leu883=)
|
rs372429972
|
0.00003
|
NM_001126108.2(SLC12A3):c.288A>G (p.Glu96=)
|
rs750048458
|
0.00003
|
NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=)
|
rs149890322
|
0.00003
|
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)
|
rs146158333
|
0.00003
|
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro)
|
rs780594361
|
0.00003
|
NM_001126108.2(SLC12A3):c.651C>T (p.Gly217=)
|
rs745764306
|
0.00003
|
NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=)
|
rs753403903
|
0.00003
|
NM_001126108.2(SLC12A3):c.759C>T (p.Ile253=)
|
rs150890628
|
0.00003
|
NM_001126108.2(SLC12A3):c.801G>A (p.Ser267=)
|
rs201871800
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001126108.2(SLC12A3):c.918C>A (p.Ile306=)
|
rs1206888240
|
0.00003
|
NM_001126108.2(SLC12A3):c.*2358T>C
|
rs886052175
|
0.00002
|
NM_001126108.2(SLC12A3):c.*243C>T
|
rs886052161
|
0.00002
|
NM_001126108.2(SLC12A3):c.*733A>G
|
rs554943055
|
0.00002
|
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)
|
rs778585043
|
0.00002
|
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp)
|
rs781030242
|
0.00002
|
NM_001126108.2(SLC12A3):c.1113C>T (p.Ile371=)
|
rs748226405
|
0.00002
|
NM_001126108.2(SLC12A3):c.1122G>A (p.Gly374=)
|
rs1290942580
|
0.00002
|
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)
|
rs748575829
|
0.00002
|
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)
|
rs775931992
|
0.00002
|
NM_001126108.2(SLC12A3):c.138C>A (p.Thr46=)
|
rs770392286
|
0.00002
|
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val)
|
rs374545976
|
0.00002
|
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)
|
rs746818109
|
0.00002
|
NM_001126108.2(SLC12A3):c.1515C>T (p.Pro505=)
|
rs746099974
|
0.00002
|
NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser)
|
rs780433336
|
0.00002
|
NM_001126108.2(SLC12A3):c.1925+1G>A
|
rs1401379546
|
0.00002
|
NM_001126108.2(SLC12A3):c.1969G>A (p.Ala657Thr)
|
rs763175269
|
0.00002
|
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met)
|
rs771326058
|
0.00002
|
NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=)
|
rs762500731
|
0.00002
|
NM_001126108.2(SLC12A3):c.2398G>A (p.Gly800Arg)
|
rs184770928
|
0.00002
|
NM_001126108.2(SLC12A3):c.2412C>T (p.Ser804=)
|
rs368730391
|
0.00002
|
NM_001126108.2(SLC12A3):c.2419+16T>G
|
rs988766063
|
0.00002
|
NM_001126108.2(SLC12A3):c.2419+8G>A
|
rs372318235
|
0.00002
|
NM_001126108.2(SLC12A3):c.2496C>T (p.Asp832=)
|
rs772348753
|
0.00002
|
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs)
|
rs750735794
|
0.00002
|
NM_001126108.2(SLC12A3):c.2721-1G>A
|
rs761242621
|
0.00002
|
NM_001126108.2(SLC12A3):c.2763T>C (p.Asn921=)
|
rs1324054849
|
0.00002
|
NM_001126108.2(SLC12A3):c.2840C>T (p.Thr947Met)
|
rs753841103
|
0.00002
|
NM_001126108.2(SLC12A3):c.2924+825C>T
|
rs1403329930
|
0.00002
|
NM_001126108.2(SLC12A3):c.506-4G>A
|
rs752805898
|
0.00002
|
NM_001126108.2(SLC12A3):c.669C>T (p.Phe223=)
|
rs779986569
|
0.00002
|
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile)
|
rs759549058
|
0.00002
|
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp)
|
rs772187470
|
0.00002
|
NM_001126108.2(SLC12A3):c.747T>C (p.Tyr249=)
|
rs752506340
|
0.00002
|
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met)
|
rs751725614
|
0.00002
|
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met)
|
rs755069436
|
0.00002
|
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)
|
rs748920885
|
0.00002
|
NM_001126108.2(SLC12A3):c.*1266G>T
|
rs886052169
|
0.00001
|
NM_001126108.2(SLC12A3):c.*1323G>C
|
rs886052170
|
0.00001
|
NM_001126108.2(SLC12A3):c.*1745T>C
|
rs886052172
|
0.00001
|
NM_001126108.2(SLC12A3):c.*1896A>T
|
rs886052173
|
0.00001
|
NM_001126108.2(SLC12A3):c.*2318A>C
|
rs886052174
|
0.00001
|
NM_001126108.2(SLC12A3):c.*317T>C
|
rs933472377
|
0.00001
|
NM_001126108.2(SLC12A3):c.1005T>C (p.Gly335=)
|
rs1234523302
|
0.00001
|
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)
|
rs121909383
|
0.00001
|
NM_001126108.2(SLC12A3):c.1095+1G>T
|
rs1310654829
|
0.00001
|
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr)
|
rs2055189755
|
0.00001
|
NM_001126108.2(SLC12A3):c.1146G>A (p.Thr382=)
|
rs146169247
|
0.00001
|
NM_001126108.2(SLC12A3):c.1180+1G>T
|
rs749098014
|
0.00001
|
NM_001126108.2(SLC12A3):c.1188C>T (p.Cys396=)
|
rs747139582
|
0.00001
|
NM_001126108.2(SLC12A3):c.1248C>T (p.Cys416=)
|
rs766672339
|
0.00001
|
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr)
|
rs137970015
|
0.00001
|
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg)
|
rs28936387
|
0.00001
|
NM_001126108.2(SLC12A3):c.1263C>T (p.Cys421=)
|
rs1310134073
|
0.00001
|
NM_001126108.2(SLC12A3):c.1269T>C (p.Tyr423=)
|
rs1251383516
|
0.00001
|
NM_001126108.2(SLC12A3):c.1317C>T (p.Gly439=)
|
rs765267640
|
0.00001
|
NM_001126108.2(SLC12A3):c.1326C>G (p.Asn442Lys)
|
rs775232139
|
0.00001
|
NM_001126108.2(SLC12A3):c.1332C>T (p.Tyr444=)
|
rs368907927
|
0.00001
|
NM_001126108.2(SLC12A3):c.1359C>T (p.Phe453=)
|
rs763807042
|
0.00001
|
NM_001126108.2(SLC12A3):c.1362G>A (p.Ala454=)
|
rs372425406
|
0.00001
|
NM_001126108.2(SLC12A3):c.1367del (p.Leu456fs)
|
rs2055210001
|
0.00001
|
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu)
|
rs1375515522
|
0.00001
|
NM_001126108.2(SLC12A3):c.1442A>G (p.Gln481Arg)
|
rs1303866177
|
0.00001
|
NM_001126108.2(SLC12A3):c.1443+8C>T
|
rs766500543
|
0.00001
|
NM_001126108.2(SLC12A3):c.1444-2A>G
|
rs1460119539
|
0.00001
|
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)
|
rs753523115
|
0.00001
|
NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=)
|
rs1215392195
|
0.00001
|
NM_001126108.2(SLC12A3):c.1462C>T (p.Leu488=)
|
rs201278704
|
0.00001
|
NM_001126108.2(SLC12A3):c.1467C>T (p.Tyr489=)
|
rs778409388
|
0.00001
|
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu)
|
rs1297766065
|
0.00001
|
NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=)
|
rs1297766065
|
0.00001
|
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=)
|
rs764801122
|
0.00001
|
NM_001126108.2(SLC12A3):c.1565T>A (p.Ile522Asn)
|
rs1254584108
|
0.00001
|
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr)
|
rs781137708
|
0.00001
|
NM_001126108.2(SLC12A3):c.1568-1G>A
|
rs199511487
|
0.00001
|
NM_001126108.2(SLC12A3):c.1593C>T (p.Ile531=)
|
rs1178324513
|
0.00001
|
NM_001126108.2(SLC12A3):c.15C>T (p.Pro5=)
|
rs1432436647
|
0.00001
|
NM_001126108.2(SLC12A3):c.1606T>C (p.Phe536Leu)
|
rs748650798
|
0.00001
|
NM_001126108.2(SLC12A3):c.1608C>T (p.Phe536=)
|
rs1424887377
|
0.00001
|
NM_001126108.2(SLC12A3):c.1647C>T (p.His549=)
|
rs763507052
|
0.00001
|
NM_001126108.2(SLC12A3):c.1653C>T (p.Ser551=)
|
rs1288307000
|
0.00001
|
NM_001126108.2(SLC12A3):c.1665G>A (p.Ser555=)
|
rs750420029
|
0.00001
|
NM_001126108.2(SLC12A3):c.1669+10C>A
|
rs1181748419
|
0.00001
|
NM_001126108.2(SLC12A3):c.1752C>T (p.Leu584=)
|
rs1435944214
|
0.00001
|
NM_001126108.2(SLC12A3):c.1761G>C (p.Trp587Cys)
|
rs1316593507
|
0.00001
|
NM_001126108.2(SLC12A3):c.1773C>T (p.Ile591=)
|
rs139395849
|
0.00001
|
NM_001126108.2(SLC12A3):c.1783G>A (p.Val595Met)
|
rs201432183
|
0.00001
|
NM_001126108.2(SLC12A3):c.1806T>C (p.Tyr602=)
|
rs996156021
|
0.00001
|
NM_001126108.2(SLC12A3):c.1817A>G (p.Lys606Arg)
|
rs1287765860
|
0.00001
|
NM_001126108.2(SLC12A3):c.183C>T (p.Ile61=)
|
rs933308354
|
0.00001
|
NM_001126108.2(SLC12A3):c.1845G>A (p.Ser615=)
|
rs1248764298
|
0.00001
|
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)
|
rs121909385
|
0.00001
|
NM_001126108.2(SLC12A3):c.1908C>T (p.Asp636=)
|
rs1428386234
|
0.00001
|
NM_001126108.2(SLC12A3):c.1911C>T (p.His637=)
|
rs1168785341
|
0.00001
|
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)
|
rs886039754
|
0.00001
|
NM_001126108.2(SLC12A3):c.1926-1G>T
|
rs755560627
|
0.00001
|
NM_001126108.2(SLC12A3):c.1926-5C>T
|
rs1312576919
|
0.00001
|
NM_001126108.2(SLC12A3):c.1944C>T (p.Leu648=)
|
rs754932021
|
0.00001
|
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
NM_001126108.2(SLC12A3):c.1965C>T (p.Arg655=)
|
rs760065412
|
0.00001
|
NM_001126108.2(SLC12A3):c.2007C>T (p.Leu669=)
|
rs1355691634
|
0.00001
|
NM_001126108.2(SLC12A3):c.2019C>T (p.Ile673=)
|
rs758071801
|
0.00001
|
NM_001126108.2(SLC12A3):c.2037+10C>T
|
rs774757777
|
0.00001
|
NM_001126108.2(SLC12A3):c.2038-10C>T
|
rs368808994
|
0.00001
|
NM_001126108.2(SLC12A3):c.2038-6C>T
|
rs1287454816
|
0.00001
|
NM_001126108.2(SLC12A3):c.2038-9C>T
|
rs1219632179
|
0.00001
|
NM_001126108.2(SLC12A3):c.2043C>T (p.Pro681=)
|
rs764651769
|
0.00001
|
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)
|
rs771701344
|
0.00001
|
NM_001126108.2(SLC12A3):c.2094G>A (p.Lys698=)
|
rs1056901149
|
0.00001
|
NM_001126108.2(SLC12A3):c.2118G>A (p.Lys706=)
|
rs894375253
|
0.00001
|
NM_001126108.2(SLC12A3):c.2143G>A (p.Glu715Lys)
|
rs766585725
|
0.00001
|
NM_001126108.2(SLC12A3):c.2148C>T (p.Asp716=)
|
rs754993017
|
0.00001
|
NM_001126108.2(SLC12A3):c.2169C>A (p.Ile723=)
|
rs1309396807
|
0.00001
|
NM_001126108.2(SLC12A3):c.2172C>T (p.Leu724=)
|
rs201038360
|
0.00001
|
NM_001126108.2(SLC12A3):c.2179-7C>T
|
rs1325693628
|
0.00001
|
NM_001126108.2(SLC12A3):c.2181C>T (p.Ala727=)
|
rs776471167
|
0.00001
|
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=)
|
rs150633177
|
0.00001
|
NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=)
|
rs745611719
|
0.00001
|
NM_001126108.2(SLC12A3):c.2283C>T (p.Leu761=)
|
rs763147092
|
0.00001
|
NM_001126108.2(SLC12A3):c.2285+10G>C
|
rs768096281
|
0.00001
|
NM_001126108.2(SLC12A3):c.2285+9G>T
|
rs2055342871
|
0.00001
|
NM_001126108.2(SLC12A3):c.2304C>T (p.Asn768=)
|
rs2055370862
|
0.00001
|
NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=)
|
rs1269639917
|
0.00001
|
NM_001126108.2(SLC12A3):c.2336G>A (p.Gly779Glu)
|
rs374352597
|
0.00001
|
NM_001126108.2(SLC12A3):c.2343C>T (p.Asn781=)
|
rs778945633
|
0.00001
|
NM_001126108.2(SLC12A3):c.2368+9A>G
|
rs761508052
|
0.00001
|
NM_001126108.2(SLC12A3):c.2376C>T (p.Pro792=)
|
rs775878486
|
0.00001
|
NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=)
|
rs139943829
|
0.00001
|
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr)
|
rs758304056
|
0.00001
|
NM_001126108.2(SLC12A3):c.2420-2A>G
|
rs776181500
|
0.00001
|
NM_001126108.2(SLC12A3):c.2420-8T>A
|
rs1474852242
|
0.00001
|
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn)
|
rs1298687889
|
0.00001
|
NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val)
|
rs1467657889
|
0.00001
|
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)
|
rs185927948
|
0.00001
|
NM_001126108.2(SLC12A3):c.2548C>T (p.Leu850Phe)
|
rs765240540
|
0.00001
|
NM_001126108.2(SLC12A3):c.2550T>C (p.Leu850=)
|
rs370747623
|
0.00001
|
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)
|
rs751929135
|
0.00001
|
NM_001126108.2(SLC12A3):c.258G>T (p.Leu86=)
|
rs1476809882
|
0.00001
|
NM_001126108.2(SLC12A3):c.2592C>T (p.Phe864=)
|
rs771944220
|
0.00001
|
NM_001126108.2(SLC12A3):c.2610C>T (p.Asn870=)
|
rs2055437551
|
0.00001
|
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys)
|
rs1441228030
|
0.00001
|
NM_001126108.2(SLC12A3):c.2633+1G>A
|
rs778455414
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001126108.2(SLC12A3):c.2673T>C (p.His891=)
|
rs769641982
|
0.00001
|
NM_001126108.2(SLC12A3):c.2679C>T (p.Val893=)
|
rs1185434453
|
0.00001
|
NM_001126108.2(SLC12A3):c.2721-8G>A
|
rs747031450
|
0.00001
|
NM_001126108.2(SLC12A3):c.2748A>G (p.Ala916=)
|
rs753646359
|
0.00001
|
NM_001126108.2(SLC12A3):c.2751C>T (p.Pro917=)
|
rs1057130584
|
0.00001
|
NM_001126108.2(SLC12A3):c.2760G>C (p.Leu920=)
|
rs1434477633
|
0.00001
|
NM_001126108.2(SLC12A3):c.283-2A>C
|
rs377456965
|
0.00001
|
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs)
|
rs754576009
|
0.00001
|
NM_001126108.2(SLC12A3):c.2857-5C>T
|
rs775559075
|
0.00001
|
NM_001126108.2(SLC12A3):c.2907C>T (p.Asp969=)
|
rs780920989
|
0.00001
|
NM_001126108.2(SLC12A3):c.2910T>A (p.Ala970=)
|
rs755684695
|
0.00001
|
NM_001126108.2(SLC12A3):c.2919C>T (p.Ile973=)
|
rs779473697
|
0.00001
|
NM_001126108.2(SLC12A3):c.333C>T (p.His111=)
|
rs867887117
|
0.00001
|
NM_001126108.2(SLC12A3):c.390C>T (p.Pro130=)
|
rs1389415239
|
0.00001
|
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys)
|
rs199745548
|
0.00001
|
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)
|
rs749742102
|
0.00001
|
NM_001126108.2(SLC12A3):c.430-12C>T
|
rs759198908
|
0.00001
|
NM_001126108.2(SLC12A3):c.430-13C>T
|
rs773727087
|
0.00001
|
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter)
|
rs751409326
|
0.00001
|
NM_001126108.2(SLC12A3):c.456C>T (p.Gly152=)
|
rs141342016
|
0.00001
|
NM_001126108.2(SLC12A3):c.45G>A (p.Leu15=)
|
rs1340327219
|
0.00001
|
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)
|
rs748547209
|
0.00001
|
NM_001126108.2(SLC12A3):c.462C>A (p.Ile154=)
|
rs778279920
|
0.00001
|
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)
|
rs1041531529
|
0.00001
|
NM_001126108.2(SLC12A3):c.475C>T (p.Leu159=)
|
rs773922449
|
0.00001
|
NM_001126108.2(SLC12A3):c.480C>G (p.Pro160=)
|
rs1964410028
|
0.00001
|
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)
|
rs267607050
|
0.00001
|
NM_001126108.2(SLC12A3):c.505+10C>T
|
rs1430942887
|
0.00001
|
NM_001126108.2(SLC12A3):c.506-1G>A
|
rs201555148
|
0.00001
|
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)
|
rs757792232
|
0.00001
|
NM_001126108.2(SLC12A3):c.519C>A (p.Ile173=)
|
rs577269101
|
0.00001
|
NM_001126108.2(SLC12A3):c.525C>T (p.Ile175=)
|
rs1355998186
|
0.00001
|
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)
|
rs772589653
|
0.00001
|
NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs)
|
rs1246662762
|
0.00001
|
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)
|
rs759426055
|
0.00001
|
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His)
|
rs776593495
|
0.00001
|
NM_001126108.2(SLC12A3):c.570A>C (p.Ser190=)
|
rs763292726
|
0.00001
|
NM_001126108.2(SLC12A3):c.595_596del (p.Lys199fs)
|
rs2055066583
|
0.00001
|
NM_001126108.2(SLC12A3):c.601+8A>G
|
rs1406338833
|
0.00001
|
NM_001126108.2(SLC12A3):c.602-2A>G
|
rs766670862
|
0.00001
|
NM_001126108.2(SLC12A3):c.602-9C>T
|
rs1169028528
|
0.00001
|
NM_001126108.2(SLC12A3):c.603T>C (p.Gly201=)
|
rs1369827088
|
0.00001
|
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp)
|
rs28936388
|
0.00001
|
NM_001126108.2(SLC12A3):c.657C>T (p.Ile219=)
|
rs138184423
|
0.00001
|
NM_001126108.2(SLC12A3):c.684C>T (p.Ala228=)
|
rs143757080
|
0.00001
|
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val)
|
rs387907469
|
0.00001
|
NM_001126108.2(SLC12A3):c.711C>T (p.Gly237=)
|
rs1321280042
|
0.00001
|
NM_001126108.2(SLC12A3):c.726G>A (p.Val242=)
|
rs748343732
|
0.00001
|
NM_001126108.2(SLC12A3):c.72A>G (p.Thr24=)
|
rs1262076308
|
0.00001
|
NM_001126108.2(SLC12A3):c.741+1G>A
|
rs1187506921
|
0.00001
|
NM_001126108.2(SLC12A3):c.741+9G>A
|
rs761526794
|
0.00001
|
NM_001126108.2(SLC12A3):c.78G>A (p.Leu26=)
|
rs752551263
|
0.00001
|
NM_001126108.2(SLC12A3):c.804C>T (p.Val268=)
|
rs757460919
|
0.00001
|
NM_001126108.2(SLC12A3):c.852+243C>T
|
rs1384167696
|
0.00001
|
NM_001126108.2(SLC12A3):c.858G>A (p.Gln286=)
|
rs1372735421
|
0.00001
|
NM_001126108.2(SLC12A3):c.910A>C (p.Thr304Pro)
|
rs753840283
|
0.00001
|
NM_001126108.2(SLC12A3):c.975T>C (p.Phe325=)
|
rs1335054266
|
0.00001
|
NM_001126108.2(SLC12A3):c.99A>G (p.Pro33=)
|
rs1356733032
|
0.00001
|
NC_000016.10:g.(?_56869719)_(56870746_?)del
|
|
|
NC_000016.10:g.(?_56885255)_(56887103_?)del
|
|
|
NC_000016.10:g.(?_56902363)_(56904472_?)del
|
|
|
NC_000016.10:g.(?_56913254)_(56913415_?)del
|
|
|
NC_000016.10:g.56865169_56865258del
|
|
|
NC_000016.10:g.56872351del
|
|
|
NC_000016.10:g.56886954del
|
rs2144729905
|
|
NC_000016.9:g.(?_56897620)_(56906303_?)del
|
|
|
NC_000016.9:g.(?_56899118)_56906295del
|
|
|
NC_000016.9:g.(?_56900962)_(56904668_?)dup
|
|
|
NC_000016.9:g.(?_56900972)_(56902294_?)del
|
|
|
NC_000016.9:g.(?_56906253)_(56912083_?)del
|
|
|
NC_000016.9:g.(?_56911979)_(56918126_?)dup
|
|
|
NC_000016.9:g.(?_56911979)_(56927219_?)dup
|
|
|
NC_000016.9:g.(?_56917770)_(56918126_?)del
|
|
|
NC_000016.9:g.(?_56921827)_(56921953_?)del
|
|
|
NC_000016.9:g.(?_56921827)_(56927219_?)dup
|
|
|
NC_000016.9:g.(?_56925985)_(56936430_?)del
|
|
|
NC_000016.9:g.(?_56938297)_(56938384_?)del
|
|
|
NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]
|
|
|
NM_000339.2(SLC12A3):c.[488C>T;2612G>A]
|
|
|
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
|
|
|
NM_000339.2:c.(?_-30)_885del
|
|
|
NM_001126108.2(SLC12A3):c.*1000A>G
|
rs886052168
|
|
NM_001126108.2(SLC12A3):c.*1142C>G
|
rs2055729446
|
|
NM_001126108.2(SLC12A3):c.*1446G>T
|
rs1054078123
|
|
NM_001126108.2(SLC12A3):c.*1456A>G
|
rs766017472
|
|
NM_001126108.2(SLC12A3):c.*2104G>C
|
rs534529573
|
|
NM_001126108.2(SLC12A3):c.*2329T>C
|
rs2055742120
|
|
NM_001126108.2(SLC12A3):c.*2340G>T
|
rs2055742161
|
|
NM_001126108.2(SLC12A3):c.*2343T>C
|
rs2055742189
|
|
NM_001126108.2(SLC12A3):c.*2412del
|
rs886052177
|
|
NM_001126108.2(SLC12A3):c.*495G>A
|
rs886052163
|
|
NM_001126108.2(SLC12A3):c.*515_*516insA
|
rs886052166
|
|
NM_001126108.2(SLC12A3):c.*524del
|
rs11347677
|
|
NM_001126108.2(SLC12A3):c.*524dup
|
rs11347677
|
|
NM_001126108.2(SLC12A3):c.*895G>A
|
rs1046715582
|
|
NM_001126108.2(SLC12A3):c.1000C>A (p.Arg334=)
|
|
|
NM_001126108.2(SLC12A3):c.1000C>G (p.Arg334Gly)
|
|
|
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
|
|
|
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001126108.2(SLC12A3):c.1017C>T (p.Thr339=)
|
rs1159677951
|
|
NM_001126108.2(SLC12A3):c.1024G>T (p.Gly342Ter)
|
|
|
NM_001126108.2(SLC12A3):c.102A>G (p.Pro34=)
|
rs2144678008
|
|
NM_001126108.2(SLC12A3):c.1035C>T (p.Ser345=)
|
|
|
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
|
|
|
NM_001126108.2(SLC12A3):c.1045C>T (p.Pro349Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1047del (p.Ser350fs)
|
rs2144695707
|
|
NM_001126108.2(SLC12A3):c.1056A>C (p.Thr352=)
|
|
|
NM_001126108.2(SLC12A3):c.1062C>T (p.Ile354=)
|
|
|
NM_001126108.2(SLC12A3):c.1066G>T (p.Ala356Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)
|
|
|
NM_001126108.2(SLC12A3):c.106G>T (p.Ala36Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1071G>A (p.Gly357=)
|
|
|
NM_001126108.2(SLC12A3):c.1072del (p.Ala358fs)
|
|
|
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys)
|
rs181865675
|
|
NM_001126108.2(SLC12A3):c.1077C>T (p.Asn359=)
|
rs181865675
|
|
NM_001126108.2(SLC12A3):c.1084G>A (p.Gly362Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1086T>A (p.Gly362=)
|
|
|
NM_001126108.2(SLC12A3):c.1086T>C (p.Gly362=)
|
|
|
NM_001126108.2(SLC12A3):c.1092C>T (p.Leu364=)
|
rs1567429099
|
|
NM_001126108.2(SLC12A3):c.1095+19C>G
|
|
|
NM_001126108.2(SLC12A3):c.1095+1G>C
|
|
|
NM_001126108.2(SLC12A3):c.1095+4A>G
|
rs2144695925
|
|
NM_001126108.2(SLC12A3):c.1095+7A>G
|
rs2144695935
|
|
NM_001126108.2(SLC12A3):c.1096-10C>T
|
|
|
NM_001126108.2(SLC12A3):c.1096-110_1119delinsCAT
|
|
|
NM_001126108.2(SLC12A3):c.1096-11C>G
|
|
|
NM_001126108.2(SLC12A3):c.1096-15C>T
|
|
|
NM_001126108.2(SLC12A3):c.1096-16T>G
|
|
|
NM_001126108.2(SLC12A3):c.1096-17CTCC[4]
|
|
|
NM_001126108.2(SLC12A3):c.1096-17CTCC[5]
|
|
|
NM_001126108.2(SLC12A3):c.1096-18T>C
|
|
|
NM_001126108.2(SLC12A3):c.1096-21_1096-6del
|
|
|
NM_001126108.2(SLC12A3):c.1096-29_1096-6del
|
rs1361491951
|
|
NM_001126108.2(SLC12A3):c.1096-2A>G
|
rs2055189357
|
|
NM_001126108.2(SLC12A3):c.1096-540_1181-347del
|
|
|
NM_001126108.2(SLC12A3):c.1096-6del
|
|
|
NM_001126108.2(SLC12A3):c.10C>T (p.Leu4=)
|
|
|
NM_001126108.2(SLC12A3):c.1110C>A (p.Ala370=)
|
|
|
NM_001126108.2(SLC12A3):c.1121G>T (p.Gly374Val)
|
|
|
NM_001126108.2(SLC12A3):c.1125C>A (p.Thr375=)
|
rs761193208
|
|
NM_001126108.2(SLC12A3):c.1126del (p.Leu376fs)
|
rs1064793879
|
|
NM_001126108.2(SLC12A3):c.1136T>A (p.Ile379Asn)
|
|
|
NM_001126108.2(SLC12A3):c.1143G>A (p.Trp381Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn)
|
rs2144709063
|
|
NM_001126108.2(SLC12A3):c.1152T>C (p.Ile384=)
|
|
|
NM_001126108.2(SLC12A3):c.1158C>T (p.Tyr386=)
|
|
|
NM_001126108.2(SLC12A3):c.1159C>T (p.Leu387=)
|
rs2144709105
|
|
NM_001126108.2(SLC12A3):c.1160T>C (p.Leu387Pro)
|
|
|
NM_001126108.2(SLC12A3):c.1164C>A (p.Ala388=)
|
|
|
NM_001126108.2(SLC12A3):c.1173C>T (p.Ala391=)
|
|
|
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=)
|
rs117440321
|
|
NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=)
|
rs117440321
|
|
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)
|
rs117440321
|
|
NM_001126108.2(SLC12A3):c.1180+11G>A
|
|
|
NM_001126108.2(SLC12A3):c.1180+13C>T
|
|
|
NM_001126108.2(SLC12A3):c.1180+17G>A
|
|
|
NM_001126108.2(SLC12A3):c.1180+17G>C
|
|
|
NM_001126108.2(SLC12A3):c.1180+19C>T
|
|
|
NM_001126108.2(SLC12A3):c.1180+2T>C
|
rs1212299212
|
|
NM_001126108.2(SLC12A3):c.1180+7G>A
|
|
|
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser)
|
rs2055190908
|
|
NM_001126108.2(SLC12A3):c.1181-10C>G
|
|
|
NM_001126108.2(SLC12A3):c.1181-13T>C
|
|
|
NM_001126108.2(SLC12A3):c.1181-19C>T
|
|
|
NM_001126108.2(SLC12A3):c.1181-20G>A
|
|
|
NM_001126108.2(SLC12A3):c.1181-4T>G
|
rs1394408906
|
|
NM_001126108.2(SLC12A3):c.1181-5C>T
|
rs1374947065
|
|
NM_001126108.2(SLC12A3):c.1181-6T>A
|
rs1313666907
|
|
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp)
|
rs777815715
|
|
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter)
|
rs747139582
|
|
NM_001126108.2(SLC12A3):c.1191G>A (p.Val397=)
|
|
|
NM_001126108.2(SLC12A3):c.1194G>A (p.Val398=)
|
rs1279225436
|
|
NM_001126108.2(SLC12A3):c.1195C>G (p.Arg399Gly)
|
|
|
NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His)
|
rs13306668
|
|
NM_001126108.2(SLC12A3):c.1196G>C (p.Arg399Pro)
|
|
|
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)
|
rs13306668
|
|
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer)
|
rs751871500
|
|
NM_001126108.2(SLC12A3):c.1200T>C (p.Asp400=)
|
|
|
NM_001126108.2(SLC12A3):c.1209G>A (p.Gly403=)
|
rs370131919
|
|
NM_001126108.2(SLC12A3):c.1212C>G (p.Val404=)
|
|
|
NM_001126108.2(SLC12A3):c.1212C>T (p.Val404=)
|
rs1218746031
|
|
NM_001126108.2(SLC12A3):c.1218_1219del (p.Asn406fs)
|
|
|
NM_001126108.2(SLC12A3):c.1227G>T (p.Val409=)
|
|
|
NM_001126108.2(SLC12A3):c.1229C>A (p.Thr410Asn)
|
rs886052157
|
|
NM_001126108.2(SLC12A3):c.1230C>A (p.Thr410=)
|
rs1394781481
|
|
NM_001126108.2(SLC12A3):c.1230C>T (p.Thr410=)
|
rs1394781481
|
|
NM_001126108.2(SLC12A3):c.1232del (p.Pro411fs)
|
|
|
NM_001126108.2(SLC12A3):c.1233T>A (p.Pro411=)
|
rs2144711467
|
|
NM_001126108.2(SLC12A3):c.1236C>A (p.Gly412=)
|
|
|
NM_001126108.2(SLC12A3):c.1236C>T (p.Gly412=)
|
|
|
NM_001126108.2(SLC12A3):c.1238G>A (p.Trp413Ter)
|
rs2144711481
|
|
NM_001126108.2(SLC12A3):c.1245C>T (p.Ala415=)
|
|
|
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser)
|
rs1429832884
|
|
NM_001126108.2(SLC12A3):c.1254G>A (p.Gly418=)
|
rs1596907155
|
|
NM_001126108.2(SLC12A3):c.1256del (p.Leu419fs)
|
|
|
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)
|
rs2144711571
|
|
NM_001126108.2(SLC12A3):c.1260C>G (p.Ala420=)
|
|
|
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly)
|
rs28936387
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
|
NM_001126108.2(SLC12A3):c.126C>G (p.Pro42=)
|
rs2144678054
|
|
NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr)
|
rs200817545
|
|
NM_001126108.2(SLC12A3):c.1288T>A (p.Cys430Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly)
|
rs2144711663
|
|
NM_001126108.2(SLC12A3):c.1289G>A (p.Cys430Tyr)
|
|
|
NM_001126108.2(SLC12A3):c.1291A>G (p.Thr431Ala)
|
|
|
NM_001126108.2(SLC12A3):c.1292C>G (p.Thr431Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1293C>A (p.Thr431=)
|
|
|
NM_001126108.2(SLC12A3):c.1308C>T (p.Cys436=)
|
|
|
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)
|
rs776210036
|
|
NM_001126108.2(SLC12A3):c.1329T>C (p.Tyr443=)
|
|
|
NM_001126108.2(SLC12A3):c.1332C>A (p.Tyr444Ter)
|
rs368907927
|
|
NM_001126108.2(SLC12A3):c.1332C>G (p.Tyr444Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1335+12A>C
|
|
|
NM_001126108.2(SLC12A3):c.1335+13G>A
|
|
|
NM_001126108.2(SLC12A3):c.1335+13G>C
|
|
|
NM_001126108.2(SLC12A3):c.1335+15G>A
|
|
|
NM_001126108.2(SLC12A3):c.1335+18G>A
|
|
|
NM_001126108.2(SLC12A3):c.1335+1G>A
|
rs757471117
|
|
NM_001126108.2(SLC12A3):c.1335+1G>C
|
rs757471117
|
|
NM_001126108.2(SLC12A3):c.1335+1_1335+6del
|
rs759801838
|
|
NM_001126108.2(SLC12A3):c.1335+20C>T
|
|
|
NM_001126108.2(SLC12A3):c.1335+2T>C
|
rs2144711826
|
|
NM_001126108.2(SLC12A3):c.1335+8del
|
rs2144711842
|
|
NM_001126108.2(SLC12A3):c.1336-11A>T
|
|
|
NM_001126108.2(SLC12A3):c.1336-16C>A
|
|
|
NM_001126108.2(SLC12A3):c.1336-1G>A
|
rs2144712491
|
|
NM_001126108.2(SLC12A3):c.1336-3C>A
|
rs1295643797
|
|
NM_001126108.2(SLC12A3):c.1336-3C>T
|
|
|
NM_001126108.2(SLC12A3):c.1336-7C>T
|
|
|
NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer)
|
rs886041108
|
|
NM_001126108.2(SLC12A3):c.1349T>G (p.Val450Gly)
|
rs2144712544
|
|
NM_001126108.2(SLC12A3):c.1360G>A (p.Ala454Thr)
|
|
|
NM_001126108.2(SLC12A3):c.136A>G (p.Thr46Ala)
|
|
|
NM_001126108.2(SLC12A3):c.1371C>T (p.Ile457=)
|
rs1380004279
|
|
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)
|
|
|
NM_001126108.2(SLC12A3):c.1374G>A (p.Thr458=)
|
|
|
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser)
|
rs2055210264
|
|
NM_001126108.2(SLC12A3):c.1380C>T (p.Gly460=)
|
|
|
NM_001126108.2(SLC12A3):c.1390G>C (p.Ala464Pro)
|
rs201945662
|
|
NM_001126108.2(SLC12A3):c.1390dup (p.Ala464fs)
|
|
|
NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn)
|
|
|
NM_001126108.2(SLC12A3):c.1395C>A (p.Thr465=)
|
rs5801
|
|
NM_001126108.2(SLC12A3):c.1400C>T (p.Ser467Phe)
|
|
|
NM_001126108.2(SLC12A3):c.1401C>T (p.Ser467=)
|
|
|
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp)
|
rs139743444
|
|
NM_001126108.2(SLC12A3):c.1410G>A (p.Leu470=)
|
|
|
NM_001126108.2(SLC12A3):c.1412C>A (p.Ala471Asp)
|
rs201341355
|
|
NM_001126108.2(SLC12A3):c.1413C>T (p.Ala471=)
|
|
|
NM_001126108.2(SLC12A3):c.1416C>T (p.Cys472=)
|
|
|
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys)
|
|
|
NM_001126108.2(SLC12A3):c.1424C>T (p.Ser475Phe)
|
|
|
NM_001126108.2(SLC12A3):c.1428T>C (p.Ala476=)
|
rs2144712814
|
|
NM_001126108.2(SLC12A3):c.1429G>A (p.Ala477Thr)
|
rs387907470
|
|
NM_001126108.2(SLC12A3):c.1435G>A (p.Val479Ile)
|
|
|
NM_001126108.2(SLC12A3):c.1440C>T (p.Phe480=)
|
|
|
NM_001126108.2(SLC12A3):c.1443+19G>A
|
|
|
NM_001126108.2(SLC12A3):c.1443+1G>A
|
|
|
NM_001126108.2(SLC12A3):c.1443+8C>A
|
|
|
NM_001126108.2(SLC12A3):c.1443+8C>G
|
rs766500543
|
|
NM_001126108.2(SLC12A3):c.1443+9G>T
|
|
|
NM_001126108.2(SLC12A3):c.1444-12C>T
|
|
|
NM_001126108.2(SLC12A3):c.1444-17G>C
|
|
|
NM_001126108.2(SLC12A3):c.1444-18C>A
|
|
|
NM_001126108.2(SLC12A3):c.1444-18C>T
|
|
|
NM_001126108.2(SLC12A3):c.1444-20T>A
|
|
|
NM_001126108.2(SLC12A3):c.1444-2_1462dup
|
rs1325615258
|
|
NM_001126108.2(SLC12A3):c.1444-4G>A
|
rs2144714075
|
|
NM_001126108.2(SLC12A3):c.1444-9G>C
|
|
|
NM_001126108.2(SLC12A3):c.1449T>C (p.Leu483=)
|
rs2144714115
|
|
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1457A>C (p.Asp486Ala)
|
|
|
NM_001126108.2(SLC12A3):c.1464G>A (p.Leu488=)
|
|
|
NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His)
|
rs2144714194
|
|
NM_001126108.2(SLC12A3):c.1473G>T (p.Leu491=)
|
|
|
NM_001126108.2(SLC12A3):c.1477G>A (p.Gly493Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys)
|
rs777612082
|
|
NM_001126108.2(SLC12A3):c.1497T>C (p.Tyr499=)
|
rs1216872861
|
|
NM_001126108.2(SLC12A3):c.1503G>A (p.Lys501=)
|
|
|
NM_001126108.2(SLC12A3):c.1508A>G (p.Lys503Arg)
|
|
|
NM_001126108.2(SLC12A3):c.150C>T (p.Thr50=)
|
|
|
NM_001126108.2(SLC12A3):c.1513C>A (p.Pro505Thr)
|
rs1486448470
|
|
NM_001126108.2(SLC12A3):c.1518G>T (p.Val506=)
|
rs2144714379
|
|
NM_001126108.2(SLC12A3):c.1520G>A (p.Arg507His)
|
|
|
NM_001126108.2(SLC12A3):c.1527C>T (p.Tyr509=)
|
|
|
NM_001126108.2(SLC12A3):c.1530G>C (p.Leu510=)
|
|
|
NM_001126108.2(SLC12A3):c.1535C>T (p.Ala512Val)
|
|
|
NM_001126108.2(SLC12A3):c.1542C>T (p.Ala514=)
|
rs2144714468
|
|
NM_001126108.2(SLC12A3):c.1547C>T (p.Ala516Val)
|
|
|
NM_001126108.2(SLC12A3):c.1556T>C (p.Phe519Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1567+15G>C
|
|
|
NM_001126108.2(SLC12A3):c.1568-10G>C
|
|
|
NM_001126108.2(SLC12A3):c.1568-11G>T
|
|
|
NM_001126108.2(SLC12A3):c.1568-14C>T
|
|
|
NM_001126108.2(SLC12A3):c.1568-333del
|
rs34001750
|
|
NM_001126108.2(SLC12A3):c.1568-334_1568-333del
|
rs34001750
|
|
NM_001126108.2(SLC12A3):c.1568-4G>T
|
|
|
NM_001126108.2(SLC12A3):c.1568-5C>T
|
rs751475080
|
|
NM_001126108.2(SLC12A3):c.1568-6C>T
|
|
|
NM_001126108.2(SLC12A3):c.1568-7C>T
|
rs763674095
|
|
NM_001126108.2(SLC12A3):c.1568-8C>A
|
|
|
NM_001126108.2(SLC12A3):c.1568C>T (p.Ala523Val)
|
|
|
NM_001126108.2(SLC12A3):c.1569T>G (p.Ala523=)
|
|
|
NM_001126108.2(SLC12A3):c.1575C>T (p.Leu525=)
|
|
|
NM_001126108.2(SLC12A3):c.157del (p.Met53fs)
|
rs2144678137
|
|
NM_001126108.2(SLC12A3):c.1581C>T (p.Thr527=)
|
|
|
NM_001126108.2(SLC12A3):c.1584A>C (p.Ile528=)
|
rs2144719408
|
|
NM_001126108.2(SLC12A3):c.1587C>T (p.Ala529=)
|
|
|
NM_001126108.2(SLC12A3):c.1590C>G (p.Pro530=)
|
rs2144719427
|
|
NM_001126108.2(SLC12A3):c.1600A>C (p.Asn534His)
|
|
|
NM_001126108.2(SLC12A3):c.1611C>G (p.Leu537=)
|
rs772625454
|
|
NM_001126108.2(SLC12A3):c.1618T>C (p.Tyr540His)
|
|
|
NM_001126108.2(SLC12A3):c.1619A>G (p.Tyr540Cys)
|
rs2144719500
|
|
NM_001126108.2(SLC12A3):c.1619_1625del (p.Tyr540fs)
|
|
|
NM_001126108.2(SLC12A3):c.1619del (p.Tyr540fs)
|
rs2055253871
|
|
NM_001126108.2(SLC12A3):c.1620T>A (p.Tyr540Ter)
|
rs2144719508
|
|
NM_001126108.2(SLC12A3):c.1623C>G (p.Ala541=)
|
rs1596913793
|
|
NM_001126108.2(SLC12A3):c.1625TCA[1] (p.Ile543del)
|
rs1567434967
|
|
NM_001126108.2(SLC12A3):c.1629C>T (p.Ile543=)
|
rs2144719542
|
|
NM_001126108.2(SLC12A3):c.162C>T (p.Arg54=)
|
|
|
NM_001126108.2(SLC12A3):c.1632C>T (p.Asn544=)
|
|
|
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)
|
rs1451284628
|
|
NM_001126108.2(SLC12A3):c.1637G>A (p.Ser546Asn)
|
rs2144719566
|
|
NM_001126108.2(SLC12A3):c.1640G>T (p.Cys547Phe)
|
|
|
NM_001126108.2(SLC12A3):c.1641C>T (p.Cys547=)
|
rs2144719573
|
|
NM_001126108.2(SLC12A3):c.1644C>T (p.Phe548=)
|
|
|
NM_001126108.2(SLC12A3):c.1658C>A (p.Thr553Asn)
|
|
|
NM_001126108.2(SLC12A3):c.1658C>G (p.Thr553Ser)
|
rs761816117
|
|
NM_001126108.2(SLC12A3):c.165C>A (p.Thr55=)
|
|
|
NM_001126108.2(SLC12A3):c.165C>T (p.Thr55=)
|
|
|
NM_001126108.2(SLC12A3):c.1664C>A (p.Ser555Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1666C>T (p.Pro556Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1668del (p.Trp558fs)
|
|
|
NM_001126108.2(SLC12A3):c.1669+10C>T
|
rs1181748419
|
|
NM_001126108.2(SLC12A3):c.1669+11C>A
|
|
|
NM_001126108.2(SLC12A3):c.1669+11C>G
|
|
|
NM_001126108.2(SLC12A3):c.1669+12C>G
|
|
|
NM_001126108.2(SLC12A3):c.1669+12C>T
|
|
|
NM_001126108.2(SLC12A3):c.1669+18C>T
|
|
|
NM_001126108.2(SLC12A3):c.1669+19C>A
|
|
|
NM_001126108.2(SLC12A3):c.1669+8A>T
|
rs1178789114
|
|
NM_001126108.2(SLC12A3):c.1670-111G>T
|
rs34362171
|
|
NM_001126108.2(SLC12A3):c.1670-17T>C
|
|
|
NM_001126108.2(SLC12A3):c.1670-18C>G
|
|
|
NM_001126108.2(SLC12A3):c.1670-191C>G
|
|
|
NM_001126108.2(SLC12A3):c.1670-1G>C
|
|
|
NM_001126108.2(SLC12A3):c.1670-1G>T
|
|
|
NM_001126108.2(SLC12A3):c.1670-20G>T
|
|
|
NM_001126108.2(SLC12A3):c.1670-2A>G
|
|
|
NM_001126108.2(SLC12A3):c.1670-4C>G
|
|
|
NM_001126108.2(SLC12A3):c.1670-9_1670-8delinsCC
|
rs2144723023
|
|
NM_001126108.2(SLC12A3):c.1671G>A (p.Gly557=)
|
rs2144723062
|
|
NM_001126108.2(SLC12A3):c.1672T>C (p.Trp558Arg)
|
|
|
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter)
|
rs2144723074
|
|
NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp)
|
|
|
NM_001126108.2(SLC12A3):c.1680_1682del (p.Ser561del)
|
rs2144723103
|
|
NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter)
|
rs2144723125
|
|
NM_001126108.2(SLC12A3):c.1692C>T (p.Tyr564=)
|
rs1397797539
|
|
NM_001126108.2(SLC12A3):c.1695C>T (p.Tyr565=)
|
|
|
NM_001126108.2(SLC12A3):c.1698C>T (p.Asn566=)
|
rs757776621
|
|
NM_001126108.2(SLC12A3):c.1701G>A (p.Lys567=)
|
|
|
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs)
|
|
|
NM_001126108.2(SLC12A3):c.1703G>A (p.Trp568Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu)
|
rs79351185
|
|
NM_001126108.2(SLC12A3):c.1719G>A (p.Gly573=)
|
rs774100756
|
|
NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val)
|
|
|
NM_001126108.2(SLC12A3):c.1725C>T (p.Ile575=)
|
|
|
NM_001126108.2(SLC12A3):c.1726A>G (p.Ile576Val)
|
rs2055277862
|
|
NM_001126108.2(SLC12A3):c.1728C>T (p.Ile576=)
|
|
|
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys)
|
rs146191537
|
|
NM_001126108.2(SLC12A3):c.1743del (p.Met581fs)
|
rs754220610
|
|
NM_001126108.2(SLC12A3):c.1749C>G (p.Leu583=)
|
rs2144723349
|
|
NM_001126108.2(SLC12A3):c.1749C>T (p.Leu583=)
|
|
|
NM_001126108.2(SLC12A3):c.1755C>A (p.Thr585=)
|
rs1301408276
|
|
NM_001126108.2(SLC12A3):c.1755C>G (p.Thr585=)
|
|
|
NM_001126108.2(SLC12A3):c.1756T>G (p.Trp586Gly)
|
|
|
NM_001126108.2(SLC12A3):c.1756_1776dup (p.Trp586_Ala592dup)
|
rs2144723364
|
|
NM_001126108.2(SLC12A3):c.1758G>A (p.Trp586Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1763C>A (p.Ala588Glu)
|
|
|
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)
|
rs121909382
|
|
NM_001126108.2(SLC12A3):c.1764G>A (p.Ala588=)
|
|
|
NM_001126108.2(SLC12A3):c.1767C>T (p.Ala589=)
|
|
|
NM_001126108.2(SLC12A3):c.1782C>T (p.Gly594=)
|
|
|
NM_001126108.2(SLC12A3):c.1788G>A (p.Val596=)
|
rs2144723517
|
|
NM_001126108.2(SLC12A3):c.1795C>T (p.Leu599Phe)
|
|
|
NM_001126108.2(SLC12A3):c.1798C>T (p.Leu600=)
|
|
|
NM_001126108.2(SLC12A3):c.1800G>T (p.Leu600=)
|
rs746569564
|
|
NM_001126108.2(SLC12A3):c.1803C>T (p.Leu601=)
|
rs1596917260
|
|
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs)
|
rs2144723594
|
|
NM_001126108.2(SLC12A3):c.1807del (p.Val603fs)
|
rs2144723620
|
|
NM_001126108.2(SLC12A3):c.1809C>T (p.Val603=)
|
|
|
NM_001126108.2(SLC12A3):c.180G>A (p.Thr60=)
|
rs756508866
|
|
NM_001126108.2(SLC12A3):c.180G>C (p.Thr60=)
|
rs756508866
|
|
NM_001126108.2(SLC12A3):c.1815C>T (p.Tyr605=)
|
|
|
NM_001126108.2(SLC12A3):c.181_190del (p.Ile61fs)
|
|
|
NM_001126108.2(SLC12A3):c.1825+15T>C
|
|
|
NM_001126108.2(SLC12A3):c.1825+17C>G
|
|
|
NM_001126108.2(SLC12A3):c.1825+17C>T
|
|
|
NM_001126108.2(SLC12A3):c.1825+18G>A
|
|
|
NM_001126108.2(SLC12A3):c.1825+18_1825+28del
|
|
|
NM_001126108.2(SLC12A3):c.1825+1G>A
|
|
|
NM_001126108.2(SLC12A3):c.1825+4C>T
|
|
|
NM_001126108.2(SLC12A3):c.1825+9C>G
|
|
|
NM_001126108.2(SLC12A3):c.1825+9C>T
|
|
|
NM_001126108.2(SLC12A3):c.1826-10G>A
|
rs767033140
|
|
NM_001126108.2(SLC12A3):c.1826-10G>C
|
|
|
NM_001126108.2(SLC12A3):c.1826-15C>T
|
|
|
NM_001126108.2(SLC12A3):c.1826-5C>T
|
rs2144725959
|
|
NM_001126108.2(SLC12A3):c.1837G>A (p.Gly613Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1839C>A (p.Gly613=)
|
|
|
NM_001126108.2(SLC12A3):c.1844C>A (p.Ser615Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp)
|
rs779160677
|
|
NM_001126108.2(SLC12A3):c.1845G>T (p.Ser615=)
|
rs1248764298
|
|
NM_001126108.2(SLC12A3):c.1848A>C (p.Val616=)
|
|
|
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn)
|
rs757490496
|
|
NM_001126108.2(SLC12A3):c.184G>C (p.Asp62His)
|
|
|
NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly)
|
|
|
NM_001126108.2(SLC12A3):c.185A>T (p.Asp62Val)
|
|
|
NM_001126108.2(SLC12A3):c.1869G>A (p.Leu623=)
|
|
|
NM_001126108.2(SLC12A3):c.1872C>T (p.Ala624=)
|
rs2144726150
|
|
NM_001126108.2(SLC12A3):c.1875C>T (p.Leu625=)
|
rs2144726156
|
|
NM_001126108.2(SLC12A3):c.1876A>G (p.Ser626Gly)
|
|
|
NM_001126108.2(SLC12A3):c.1881C>T (p.Tyr627=)
|
rs2055295668
|
|
NM_001126108.2(SLC12A3):c.1887G>A (p.Val629=)
|
|
|
NM_001126108.2(SLC12A3):c.1889G>T (p.Gly630Val)
|
rs121909384
|
|
NM_001126108.2(SLC12A3):c.1890C>G (p.Gly630=)
|
|
|
NM_001126108.2(SLC12A3):c.1890C>T (p.Gly630=)
|
rs2144726240
|
|
NM_001126108.2(SLC12A3):c.1896T>C (p.Asn632=)
|
|
|
NM_001126108.2(SLC12A3):c.1899G>C (p.Glu633Asp)
|
rs1489892274
|
|
NM_001126108.2(SLC12A3):c.189G>A (p.Val63=)
|
rs2144678267
|
|
NM_001126108.2(SLC12A3):c.1914C>A (p.Ile638=)
|
|
|
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met)
|
rs749234287
|
|
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)
|
rs200697179
|
|
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys)
|
rs200697179
|
|
NM_001126108.2(SLC12A3):c.1925+14C>T
|
|
|
NM_001126108.2(SLC12A3):c.1925+2T>A
|
|
|
NM_001126108.2(SLC12A3):c.1926-13C>T
|
|
|
NM_001126108.2(SLC12A3):c.1926-20C>G
|
|
|
NM_001126108.2(SLC12A3):c.1926-2_1929dup
|
|
|
NM_001126108.2(SLC12A3):c.1926-377_2121del
|
|
|
NM_001126108.2(SLC12A3):c.1926-5_1926-3del
|
|
|
NM_001126108.2(SLC12A3):c.1926-8C>G
|
rs2144728348
|
|
NM_001126108.2(SLC12A3):c.1926-8C>T
|
|
|
NM_001126108.2(SLC12A3):c.1929C>T (p.Pro643=)
|
|
|
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs)
|
rs779215330
|
|
NM_001126108.2(SLC12A3):c.1936C>T (p.Leu646=)
|
|
|
NM_001126108.2(SLC12A3):c.1947G>A (p.Thr649=)
|
|
|
NM_001126108.2(SLC12A3):c.1950G>C (p.Gly650=)
|
|
|
NM_001126108.2(SLC12A3):c.1953C>T (p.Pro651=)
|
|
|
NM_001126108.2(SLC12A3):c.1956C>T (p.Pro652=)
|
|
|
NM_001126108.2(SLC12A3):c.1959C>T (p.Asn653=)
|
rs2144728502
|
|
NM_001126108.2(SLC12A3):c.1962C>T (p.Phe654=)
|
rs2144728515
|
|
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu)
|
rs121909380
|
|
NM_001126108.2(SLC12A3):c.1967C>G (p.Pro656Arg)
|
|
|
NM_001126108.2(SLC12A3):c.1967del (p.Pro656fs)
|
|
|
NM_001126108.2(SLC12A3):c.1971C>T (p.Ala657=)
|
rs2144728583
|
|
NM_001126108.2(SLC12A3):c.1983T>C (p.Phe661=)
|
rs1335673202
|
|
NM_001126108.2(SLC12A3):c.1986G>A (p.Val662=)
|
|
|
NM_001126108.2(SLC12A3):c.1989C>A (p.Gly663=)
|
|
|
NM_001126108.2(SLC12A3):c.198A>T (p.Thr66=)
|
|
|
NM_001126108.2(SLC12A3):c.1995C>T (p.Phe665=)
|
|
|
NM_001126108.2(SLC12A3):c.1998C>T (p.Thr666=)
|
rs2144728645
|
|
NM_001126108.2(SLC12A3):c.1999del (p.Arg667fs)
|
|
|
NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val)
|
rs1319085522
|
|
NM_001126108.2(SLC12A3):c.2011C>T (p.Leu671=)
|
rs2144728693
|
|
NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter)
|
rs1227599828
|
|
NM_001126108.2(SLC12A3):c.2024G>A (p.Gly675Asp)
|
|
|
NM_001126108.2(SLC12A3):c.2025C>A (p.Gly675=)
|
|
|
NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=)
|
rs1232012807
|
|
NM_001126108.2(SLC12A3):c.2028C>G (p.His676Gln)
|
|
|
NM_001126108.2(SLC12A3):c.2030T>G (p.Val677Gly)
|
|
|
NM_001126108.2(SLC12A3):c.2037+11C>G
|
|
|
NM_001126108.2(SLC12A3):c.2037+11C>T
|
|
|
NM_001126108.2(SLC12A3):c.2037+14G>A
|
|
|
NM_001126108.2(SLC12A3):c.2037+20G>T
|
|
|
NM_001126108.2(SLC12A3):c.2037+4A>G
|
|
|
NM_001126108.2(SLC12A3):c.2037+7G>A
|
|
|
NM_001126108.2(SLC12A3):c.2037+87A>G
|
rs1456555803
|
|
NM_001126108.2(SLC12A3):c.2037+9C>T
|
rs769001837
|
|
NM_001126108.2(SLC12A3):c.2037C>T (p.Ile679=)
|
|
|
NM_001126108.2(SLC12A3):c.2038-11C>T
|
|
|
NM_001126108.2(SLC12A3):c.2038-15C>A
|
|
|
NM_001126108.2(SLC12A3):c.2038-17G>T
|
|
|
NM_001126108.2(SLC12A3):c.2038-19C>T
|
|
|
NM_001126108.2(SLC12A3):c.2038-3C>G
|
rs2144729897
|
|
NM_001126108.2(SLC12A3):c.204G>A (p.Glu68=)
|
|
|
NM_001126108.2(SLC12A3):c.2055G>A (p.Arg685=)
|
rs2144729972
|
|
NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn)
|
|
|
NM_001126108.2(SLC12A3):c.205C>T (p.His69Tyr)
|
|
|
NM_001126108.2(SLC12A3):c.2073C>T (p.Leu691=)
|
rs570651499
|
|
NM_001126108.2(SLC12A3):c.2076C>A (p.Ile692=)
|
|
|
NM_001126108.2(SLC12A3):c.2076C>T (p.Ile692=)
|
rs780880719
|
|
NM_001126108.2(SLC12A3):c.207C>T (p.His69=)
|
rs2144678341
|
|
NM_001126108.2(SLC12A3):c.2085G>A (p.Gly695=)
|
|
|
NM_001126108.2(SLC12A3):c.2091C>A (p.Thr697=)
|
|
|
NM_001126108.2(SLC12A3):c.2091C>G (p.Thr697=)
|
rs2055322321
|
|
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)
|
rs750710315
|
|
NM_001126108.2(SLC12A3):c.2119G>T (p.Ala707Ser)
|
rs1233683747
|
|
NM_001126108.2(SLC12A3):c.2121C>A (p.Ala707=)
|
rs762500731
|
|
NM_001126108.2(SLC12A3):c.2124C>T (p.Phe708=)
|
rs2144730245
|
|
NM_001126108.2(SLC12A3):c.2127C>T (p.Tyr709=)
|
|
|
NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu)
|
rs546999572
|
|
NM_001126108.2(SLC12A3):c.2130G>A (p.Ser710=)
|
|
|
NM_001126108.2(SLC12A3):c.2131del (p.Asp711fs)
|
|
|
NM_001126108.2(SLC12A3):c.2136C>T (p.Val712=)
|
|
|
NM_001126108.2(SLC12A3):c.2142C>G (p.Ala714=)
|
|
|
NM_001126108.2(SLC12A3):c.2143G>T (p.Glu715Ter)
|
rs766585725
|
|
NM_001126108.2(SLC12A3):c.2161G>A (p.Val721Ile)
|
|
|
NM_001126108.2(SLC12A3):c.216C>T (p.Asn72=)
|
rs2144678351
|
|
NM_001126108.2(SLC12A3):c.2178+13G>C
|
|
|
NM_001126108.2(SLC12A3):c.2178+14G>A
|
|
|
NM_001126108.2(SLC12A3):c.2178+14G>C
|
|
|
NM_001126108.2(SLC12A3):c.2178+14G>T
|
|
|
NM_001126108.2(SLC12A3):c.2178+17G>T
|
|
|
NM_001126108.2(SLC12A3):c.2178+1G>A
|
|
|
NM_001126108.2(SLC12A3):c.2178+1G>T
|
rs2144730439
|
|
NM_001126108.2(SLC12A3):c.2178+7T>G
|
rs2144730457
|
|
NM_001126108.2(SLC12A3):c.2179-126_2179-125insA
|
rs1491296372
|
|
NM_001126108.2(SLC12A3):c.2179-131_2179-121del
|
rs1290520061
|
|
NM_001126108.2(SLC12A3):c.2179-133_2179-123del
|
rs200277468
|
|
NM_001126108.2(SLC12A3):c.2179-13del
|
|
|
NM_001126108.2(SLC12A3):c.2179-14_2179-7del
|
rs2144732791
|
|
NM_001126108.2(SLC12A3):c.2179-153_2179-152dup
|
rs202020577
|
|
NM_001126108.2(SLC12A3):c.2179-16C>T
|
|
|
NM_001126108.2(SLC12A3):c.2179-17C>A
|
|
|
NM_001126108.2(SLC12A3):c.2179-7del
|
|
|
NM_001126108.2(SLC12A3):c.2186G>A (p.Gly729Asp)
|
rs373901523
|
|
NM_001126108.2(SLC12A3):c.2191G>T (p.Gly731Trp)
|
|
|
NM_001126108.2(SLC12A3):c.2193G>A (p.Gly731=)
|
|
|
NM_001126108.2(SLC12A3):c.2204C>G (p.Pro735Arg)
|
|
|
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile)
|
rs1424832490
|
|
NM_001126108.2(SLC12A3):c.2208C>T (p.Asn736=)
|
rs781671825
|
|
NM_001126108.2(SLC12A3):c.2212C>T (p.Leu738=)
|
rs2144732990
|
|
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg)
|
rs2144733006
|
|
NM_001126108.2(SLC12A3):c.2214G>A (p.Leu738=)
|
|
|
NM_001126108.2(SLC12A3):c.2223_2224del (p.Phe742fs)
|
|
|
NM_001126108.2(SLC12A3):c.2225T>G (p.Phe742Cys)
|
rs2055341573
|
|
NM_001126108.2(SLC12A3):c.2235C>T (p.Asn745=)
|
rs2144733052
|
|
NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2239C>T (p.Gln747Ter)
|
rs2055341736
|
|
NM_001126108.2(SLC12A3):c.2244G>T (p.Ser748=)
|
|
|
NM_001126108.2(SLC12A3):c.2252C>T (p.Pro751Leu)
|
|
|
NM_001126108.2(SLC12A3):c.2253G>C (p.Pro751=)
|
rs776382586
|
|
NM_001126108.2(SLC12A3):c.2259A>C (p.Thr753=)
|
rs960284369
|
|
NM_001126108.2(SLC12A3):c.2259A>G (p.Thr753=)
|
rs960284369
|
|
NM_001126108.2(SLC12A3):c.2269del (p.Tyr757fs)
|
rs2144733156
|
|
NM_001126108.2(SLC12A3):c.2272A>C (p.Ile758Leu)
|
rs886052158
|
|
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr)
|
rs61730207
|
|
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser)
|
rs61730207
|
|
NM_001126108.2(SLC12A3):c.2276del (p.Gly759fs)
|
rs1182653117
|
|
NM_001126108.2(SLC12A3):c.2285+10G>A
|
rs768096281
|
|
NM_001126108.2(SLC12A3):c.2285+10_2285+12del
|
rs562443353
|
|
NM_001126108.2(SLC12A3):c.2285+11G>A
|
|
|
NM_001126108.2(SLC12A3):c.2285+12del
|
rs562443353
|
|
NM_001126108.2(SLC12A3):c.2285+1del
|
|
|
NM_001126108.2(SLC12A3):c.2285+207T>C
|
|
|
NM_001126108.2(SLC12A3):c.2285+2T>C
|
rs764220175
|
|
NM_001126108.2(SLC12A3):c.2285+8G>T
|
rs199854613
|
|
NM_001126108.2(SLC12A3):c.2286-10C>A
|
rs2144737698
|
|
NM_001126108.2(SLC12A3):c.2286-16C>T
|
|
|
NM_001126108.2(SLC12A3):c.2286-17A>T
|
|
|
NM_001126108.2(SLC12A3):c.2286-18C>T
|
|
|
NM_001126108.2(SLC12A3):c.2286-20C>T
|
|
|
NM_001126108.2(SLC12A3):c.2286-5T>C
|
|
|
NM_001126108.2(SLC12A3):c.2289T>C (p.Asp763=)
|
rs2055370580
|
|
NM_001126108.2(SLC12A3):c.2292C>G (p.Ala764=)
|
|
|
NM_001126108.2(SLC12A3):c.2292C>T (p.Ala764=)
|
|
|
NM_001126108.2(SLC12A3):c.2303A>G (p.Asn768Ser)
|
|
|
NM_001126108.2(SLC12A3):c.2303A>T (p.Asn768Ile)
|
rs574853861
|
|
NM_001126108.2(SLC12A3):c.2310C>A (p.Gly770=)
|
|
|
NM_001126108.2(SLC12A3):c.2313G>A (p.Val771=)
|
rs369433014
|
|
NM_001126108.2(SLC12A3):c.2319C>A (p.Val773=)
|
|
|
NM_001126108.2(SLC12A3):c.2329C>T (p.Arg777Trp)
|
|
|
NM_001126108.2(SLC12A3):c.2330G>A (p.Arg777Gln)
|
|
|
NM_001126108.2(SLC12A3):c.2346G>A (p.Val782=)
|
|
|
NM_001126108.2(SLC12A3):c.234G>A (p.Glu78=)
|
rs2144678413
|
|
NM_001126108.2(SLC12A3):c.2352G>A (p.Lys784=)
|
|
|
NM_001126108.2(SLC12A3):c.2361G>C (p.Gln787His)
|
|
|
NM_001126108.2(SLC12A3):c.2364G>C (p.Ala788=)
|
|
|
NM_001126108.2(SLC12A3):c.2367C>G (p.His789Gln)
|
|
|
NM_001126108.2(SLC12A3):c.2368+10T>C
|
rs766991488
|
|
NM_001126108.2(SLC12A3):c.2368+14C>T
|
|
|
NM_001126108.2(SLC12A3):c.2368+17C>A
|
|
|
NM_001126108.2(SLC12A3):c.2368+17C>G
|
|
|
NM_001126108.2(SLC12A3):c.2368+185C>T
|
rs1394574663
|
|
NM_001126108.2(SLC12A3):c.2368+20del
|
|
|
NM_001126108.2(SLC12A3):c.2368+2del
|
|
|
NM_001126108.2(SLC12A3):c.2368+3G>T
|
|
|
NM_001126108.2(SLC12A3):c.2368+8C>T
|
|
|
NM_001126108.2(SLC12A3):c.2368+9del
|
|
|
NM_001126108.2(SLC12A3):c.2369-18C>T
|
|
|
NM_001126108.2(SLC12A3):c.2369-191C>T
|
rs912634409
|
|
NM_001126108.2(SLC12A3):c.2369-1G>A
|
|
|
NM_001126108.2(SLC12A3):c.2369-2A>G
|
|
|
NM_001126108.2(SLC12A3):c.2369-8T>C
|
|
|
NM_001126108.2(SLC12A3):c.2369-9C>A
|
rs2144741496
|
|
NM_001126108.2(SLC12A3):c.2369-9C>G
|
rs2144741496
|
|
NM_001126108.2(SLC12A3):c.2369-9C>T
|
rs2144741496
|
|
NM_001126108.2(SLC12A3):c.2373C>T (p.Asn791=)
|
rs756702258
|
|
NM_001126108.2(SLC12A3):c.2374C>T (p.Pro792Ser)
|
|
|
NM_001126108.2(SLC12A3):c.2377G>A (p.Val793Met)
|
|
|
NM_001126108.2(SLC12A3):c.2378T>C (p.Val793Ala)
|
rs2055395686
|
|
NM_001126108.2(SLC12A3):c.2379dup (p.Phe794fs)
|
rs767710222
|
|
NM_001126108.2(SLC12A3):c.237C>T (p.Pro79=)
|
|
|
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)
|
rs780299444
|
|
NM_001126108.2(SLC12A3):c.2385C>T (p.Asp795=)
|
|
|
NM_001126108.2(SLC12A3):c.2394G>A (p.Glu798=)
|
|
|
NM_001126108.2(SLC12A3):c.240G>C (p.Arg80=)
|
rs2144678449
|
|
NM_001126108.2(SLC12A3):c.2419+11A>G
|
|
|
NM_001126108.2(SLC12A3):c.2419+13C>A
|
|
|
NM_001126108.2(SLC12A3):c.2419+14A>G
|
rs2144741775
|
|
NM_001126108.2(SLC12A3):c.2419+23C>A
|
|
|
NM_001126108.2(SLC12A3):c.2419+40A>G
|
|
|
NM_001126108.2(SLC12A3):c.2419+42T>C
|
|
|
NM_001126108.2(SLC12A3):c.2419+9C>T
|
rs2055396681
|
|
NM_001126108.2(SLC12A3):c.2420-12C>T
|
|
|
NM_001126108.2(SLC12A3):c.2420-15C>T
|
|
|
NM_001126108.2(SLC12A3):c.2420-17G>A
|
|
|
NM_001126108.2(SLC12A3):c.2420-17G>C
|
|
|
NM_001126108.2(SLC12A3):c.2420-17G>T
|
|
|
NM_001126108.2(SLC12A3):c.2420-18C>A
|
|
|
NM_001126108.2(SLC12A3):c.2420-18C>T
|
|
|
NM_001126108.2(SLC12A3):c.2420-20C>T
|
|
|
NM_001126108.2(SLC12A3):c.2420-37T>A
|
rs2278489
|
|
NM_001126108.2(SLC12A3):c.2420-37T>C
|
rs2278489
|
|
NM_001126108.2(SLC12A3):c.2420-37_2420-19del
|
rs760759330
|
|
NM_001126108.2(SLC12A3):c.2420-4G>C
|
rs2144743765
|
|
NM_001126108.2(SLC12A3):c.2420-72C>T
|
rs2278490
|
|
NM_001126108.2(SLC12A3):c.2420T>A (p.Val807Glu)
|
rs759039589
|
|
NM_001126108.2(SLC12A3):c.2424C>T (p.Asp808=)
|
rs2144743796
|
|
NM_001126108.2(SLC12A3):c.2434C>T (p.Leu812=)
|
rs201300295
|
|
NM_001126108.2(SLC12A3):c.2436G>A (p.Leu812=)
|
rs899978580
|
|
NM_001126108.2(SLC12A3):c.2442G>A (p.Lys814=)
|
|
|
NM_001126108.2(SLC12A3):c.2448G>A (p.Glu816=)
|
|
|
NM_001126108.2(SLC12A3):c.2449C>T (p.Gln817Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2453_2479del (p.Ala818_Gln826del)
|
|
|
NM_001126108.2(SLC12A3):c.2459C>G (p.Thr820Ser)
|
|
|
NM_001126108.2(SLC12A3):c.2460C>T (p.Thr820=)
|
|
|
NM_001126108.2(SLC12A3):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2472G>A (p.Ser824=)
|
|
|
NM_001126108.2(SLC12A3):c.2472G>C (p.Ser824=)
|
|
|
NM_001126108.2(SLC12A3):c.2475G>A (p.Glu825=)
|
rs2144743952
|
|
NM_001126108.2(SLC12A3):c.2478G>A (p.Gln826=)
|
|
|
NM_001126108.2(SLC12A3):c.2487G>A (p.Lys829=)
|
rs2144744018
|
|
NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly)
|
rs1555501437
|
|
NM_001126108.2(SLC12A3):c.2502C>T (p.Tyr834=)
|
rs2055411248
|
|
NM_001126108.2(SLC12A3):c.2504G>A (p.Trp835Ter)
|
rs780844229
|
|
NM_001126108.2(SLC12A3):c.2508C>G (p.Leu836=)
|
rs1158469272
|
|
NM_001126108.2(SLC12A3):c.2508C>T (p.Leu836=)
|
rs1158469272
|
|
NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer)
|
rs2055411543
|
|
NM_001126108.2(SLC12A3):c.2517T>C (p.Asp839=)
|
|
|
NM_001126108.2(SLC12A3):c.2521+10C>A
|
|
|
NM_001126108.2(SLC12A3):c.2521+14T>G
|
|
|
NM_001126108.2(SLC12A3):c.2521+17G>A
|
|
|
NM_001126108.2(SLC12A3):c.2521+1G>T
|
rs557772454
|
|
NM_001126108.2(SLC12A3):c.2521+253C>A
|
|
|
NM_001126108.2(SLC12A3):c.2521+253C>G
|
|
|
NM_001126108.2(SLC12A3):c.2521+253C>T
|
rs940322134
|
|
NM_001126108.2(SLC12A3):c.2521+345dup
|
rs199573248
|
|
NM_001126108.2(SLC12A3):c.2521+475G>C
|
rs16963397
|
|
NM_001126108.2(SLC12A3):c.2521+9C>A
|
rs2055411956
|
|
NM_001126108.2(SLC12A3):c.2521G>A (p.Gly841Ser)
|
rs769412145
|
|
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg)
|
rs769412145
|
|
NM_001126108.2(SLC12A3):c.2522-15G>T
|
|
|
NM_001126108.2(SLC12A3):c.2522-15del
|
|
|
NM_001126108.2(SLC12A3):c.2522-163G>C
|
rs13306679
|
|
NM_001126108.2(SLC12A3):c.2522-18G>A
|
|
|
NM_001126108.2(SLC12A3):c.2522-18G>T
|
|
|
NM_001126108.2(SLC12A3):c.2522-19C>G
|
|
|
NM_001126108.2(SLC12A3):c.2522-19C>T
|
|
|
NM_001126108.2(SLC12A3):c.2522-218_2522-215del
|
rs1396799568
|
|
NM_001126108.2(SLC12A3):c.2522-2A>C
|
|
|
NM_001126108.2(SLC12A3):c.2522-2del
|
rs2144748104
|
|
NM_001126108.2(SLC12A3):c.2523C>T (p.Gly841=)
|
rs1471545844
|
|
NM_001126108.2(SLC12A3):c.252C>T (p.Pro84=)
|
|
|
NM_001126108.2(SLC12A3):c.2530C>T (p.Leu844Phe)
|
|
|
NM_001126108.2(SLC12A3):c.2532C>T (p.Leu844=)
|
rs2144748148
|
|
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs)
|
rs754378340
|
|
NM_001126108.2(SLC12A3):c.2544T>G (p.Tyr848Ter)
|
rs2055435915
|
|
NM_001126108.2(SLC12A3):c.2545C>T (p.Leu849Phe)
|
|
|
NM_001126108.2(SLC12A3):c.2553C>A (p.Gly851=)
|
|
|
NM_001126108.2(SLC12A3):c.255A>G (p.Thr85=)
|
rs767855323
|
|
NM_001126108.2(SLC12A3):c.255A>T (p.Thr85=)
|
|
|
NM_001126108.2(SLC12A3):c.2562G>A (p.Arg854=)
|
|
|
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=)
|
rs191194366
|
|
NM_001126108.2(SLC12A3):c.2576del (p.Cys859fs)
|
rs1555501632
|
|
NM_001126108.2(SLC12A3):c.2577C>A (p.Cys859Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2583C>T (p.Ile861=)
|
rs1224677807
|
|
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro)
|
rs267607051
|
|
NM_001126108.2(SLC12A3):c.2593G>A (p.Val865Ile)
|
|
|
NM_001126108.2(SLC12A3):c.2595A>G (p.Val865=)
|
|
|
NM_001126108.2(SLC12A3):c.2595del (p.Gly866fs)
|
|
|
NM_001126108.2(SLC12A3):c.2598_2599delinsTA (p.Gly867Ser)
|
|
|
NM_001126108.2(SLC12A3):c.2603A>G (p.Gln868Arg)
|
rs2055437395
|
|
NM_001126108.2(SLC12A3):c.2607T>C (p.Ile869=)
|
rs2144748465
|
|
NM_001126108.2(SLC12A3):c.2614A>G (p.Met872Val)
|
|
|
NM_001126108.2(SLC12A3):c.2615_2633dup (p.Ile879fs)
|
|
|
NM_001126108.2(SLC12A3):c.261T>C (p.Ala87=)
|
|
|
NM_001126108.2(SLC12A3):c.2622G>A (p.Gln874=)
|
rs2144748530
|
|
NM_001126108.2(SLC12A3):c.2625G>A (p.Glu875=)
|
rs986582124
|
|
NM_001126108.2(SLC12A3):c.2633+10del
|
|
|
NM_001126108.2(SLC12A3):c.2633+2T>A
|
|
|
NM_001126108.2(SLC12A3):c.2633+2T>G
|
|
|
NM_001126108.2(SLC12A3):c.2633+7G>A
|
rs1596937543
|
|
NM_001126108.2(SLC12A3):c.2633+8T>C
|
|
|
NM_001126108.2(SLC12A3):c.2634-12T>A
|
|
|
NM_001126108.2(SLC12A3):c.2634-13A>G
|
|
|
NM_001126108.2(SLC12A3):c.2634-184A>G
|
rs56410912
|
|
NM_001126108.2(SLC12A3):c.2634-18C>A
|
|
|
NM_001126108.2(SLC12A3):c.2634-19C>A
|
|
|
NM_001126108.2(SLC12A3):c.2634-243_2634-241dup
|
rs10645308
|
|
NM_001126108.2(SLC12A3):c.2634-7C>T
|
|
|
NM_001126108.2(SLC12A3):c.2634-9G>A
|
rs1596944843
|
|
NM_001126108.2(SLC12A3):c.2652C>T (p.Ser884=)
|
|
|
NM_001126108.2(SLC12A3):c.2655G>A (p.Lys885=)
|
rs2055510045
|
|
NM_001126108.2(SLC12A3):c.2659C>A (p.Arg887=)
|
rs747383768
|
|
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter)
|
rs747383768
|
|
NM_001126108.2(SLC12A3):c.2660G>C (p.Arg887Pro)
|
|
|
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro)
|
rs764833797
|
|
NM_001126108.2(SLC12A3):c.2664G>T (p.Leu888=)
|
rs751488136
|
|
NM_001126108.2(SLC12A3):c.2667A>T (p.Gly889=)
|
|
|
NM_001126108.2(SLC12A3):c.2679_2691del (p.His894fs)
|
|
|
NM_001126108.2(SLC12A3):c.267G>A (p.Leu89=)
|
rs2144678576
|
|
NM_001126108.2(SLC12A3):c.2682C>T (p.His894=)
|
|
|
NM_001126108.2(SLC12A3):c.2685C>A (p.Ile895=)
|
|
|
NM_001126108.2(SLC12A3):c.2688C>G (p.Leu896=)
|
|
|
NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr)
|
rs1596883431
|
|
NM_001126108.2(SLC12A3):c.2709T>C (p.Pro903=)
|
rs1596945206
|
|
NM_001126108.2(SLC12A3):c.270C>T (p.His90=)
|
rs2144678597
|
|
NM_001126108.2(SLC12A3):c.2710C>A (p.Arg904=)
|
|
|
NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp)
|
|
|
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro)
|
rs1555499151
|
|
NM_001126108.2(SLC12A3):c.2720+10G>A
|
|
|
NM_001126108.2(SLC12A3):c.2720+10G>C
|
|
|
NM_001126108.2(SLC12A3):c.2720+11T>A
|
|
|
NM_001126108.2(SLC12A3):c.2720+14T>G
|
|
|
NM_001126108.2(SLC12A3):c.2720+1G>C
|
rs1347239469
|
|
NM_001126108.2(SLC12A3):c.2720+1G>T
|
rs1347239469
|
|
NM_001126108.2(SLC12A3):c.2720+2T>G
|
|
|
NM_001126108.2(SLC12A3):c.2720+8C>A
|
rs957373573
|
|
NM_001126108.2(SLC12A3):c.2720+8C>T
|
rs957373573
|
|
NM_001126108.2(SLC12A3):c.2721-12T>G
|
|
|
NM_001126108.2(SLC12A3):c.2721-169C>G
|
|
|
NM_001126108.2(SLC12A3):c.2721-16A>G
|
|
|
NM_001126108.2(SLC12A3):c.2721-2A>C
|
|
|
NM_001126108.2(SLC12A3):c.2721-2A>T
|
rs2144766556
|
|
NM_001126108.2(SLC12A3):c.2721-6C>A
|
|
|
NM_001126108.2(SLC12A3):c.2721-6C>G
|
|
|
NM_001126108.2(SLC12A3):c.2721-7T>C
|
|
|
NM_001126108.2(SLC12A3):c.2721-9C>T
|
|
|
NM_001126108.2(SLC12A3):c.2724C>G (p.Thr908=)
|
|
|
NM_001126108.2(SLC12A3):c.2727G>A (p.Lys909=)
|
rs2144766581
|
|
NM_001126108.2(SLC12A3):c.2738A>G (p.Asp913Gly)
|
|
|
NM_001126108.2(SLC12A3):c.2739C>T (p.Asp913=)
|
|
|
NM_001126108.2(SLC12A3):c.2745T>A (p.Ile915=)
|
|
|
NM_001126108.2(SLC12A3):c.2746G>T (p.Ala916Ser)
|
rs2144766684
|
|
NM_001126108.2(SLC12A3):c.2756G>A (p.Arg919His)
|
|
|
NM_001126108.2(SLC12A3):c.2765A>C (p.Asp922Ala)
|
|
|
NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=)
|
rs2144766852
|
|
NM_001126108.2(SLC12A3):c.2784C>T (p.Ala928=)
|
rs1567446718
|
|
NM_001126108.2(SLC12A3):c.2790C>A (p.Val930=)
|
|
|
NM_001126108.2(SLC12A3):c.2794G>T (p.Glu932Ter)
|
rs1257717478
|
|
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys)
|
rs777021735
|
|
NM_001126108.2(SLC12A3):c.2798T>C (p.Met933Thr)
|
|
|
NM_001126108.2(SLC12A3):c.27G>A (p.Thr9=)
|
rs1284858990
|
|
NM_001126108.2(SLC12A3):c.27G>T (p.Thr9=)
|
rs1284858990
|
|
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs)
|
rs758020565
|
|
NM_001126108.2(SLC12A3):c.2802G>A (p.Arg934=)
|
|
|
NM_001126108.2(SLC12A3):c.2802G>C (p.Arg934=)
|
|
|
NM_001126108.2(SLC12A3):c.2803C>A (p.Arg935=)
|
rs56125220
|
|
NM_001126108.2(SLC12A3):c.2805G>A (p.Arg935=)
|
|
|
NM_001126108.2(SLC12A3):c.2811C>A (p.Cys937Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2812C>T (p.Pro938Ser)
|
|
|
NM_001126108.2(SLC12A3):c.2814C>G (p.Pro938=)
|
|
|
NM_001126108.2(SLC12A3):c.2815del (p.Trp939fs)
|
rs2144767026
|
|
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter)
|
rs760134110
|
|
NM_001126108.2(SLC12A3):c.2818A>T (p.Lys940Ter)
|
|
|
NM_001126108.2(SLC12A3):c.282+10G>T
|
rs766767090
|
|
NM_001126108.2(SLC12A3):c.282+16G>A
|
|
|
NM_001126108.2(SLC12A3):c.282+20A>T
|
|
|
NM_001126108.2(SLC12A3):c.282+7G>A
|
rs2144678660
|
|
NM_001126108.2(SLC12A3):c.2820G>A (p.Lys940=)
|
rs1312647566
|
|
NM_001126108.2(SLC12A3):c.283-11T>G
|
|
|
NM_001126108.2(SLC12A3):c.283-16del
|
|
|
NM_001126108.2(SLC12A3):c.283-17_283-15del
|
|
|
NM_001126108.2(SLC12A3):c.283-19G>T
|
|
|
NM_001126108.2(SLC12A3):c.283-435_283-384dup
|
rs2144681043
|
|
NM_001126108.2(SLC12A3):c.283-5G>T
|
rs2144682032
|
|
NM_001126108.2(SLC12A3):c.283-7C>T
|
|
|
NM_001126108.2(SLC12A3):c.283-8G>A
|
|
|
NM_001126108.2(SLC12A3):c.283-9G>C
|
|
|
NM_001126108.2(SLC12A3):c.283-9G>T
|
rs1307488066
|
|
NM_001126108.2(SLC12A3):c.2830GAG[1] (p.Glu945del)
|
|
|
NM_001126108.2(SLC12A3):c.2835G>A (p.Glu945=)
|
|
|
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)
|
rs1555499234
|
|
NM_001126108.2(SLC12A3):c.2841G>A (p.Thr947=)
|
rs754755570
|
|
NM_001126108.2(SLC12A3):c.2841G>C (p.Thr947=)
|
rs754755570
|
|
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter)
|
rs1244866304
|
|
NM_001126108.2(SLC12A3):c.2850A>C (p.Arg950Ser)
|
|
|
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs)
|
rs746623621
|
|
NM_001126108.2(SLC12A3):c.2856+11G>T
|
|
|
NM_001126108.2(SLC12A3):c.2856+12G>A
|
|
|
NM_001126108.2(SLC12A3):c.2856+13G>T
|
|
|
NM_001126108.2(SLC12A3):c.2856+15G>C
|
|
|
NM_001126108.2(SLC12A3):c.2856+17G>C
|
|
|
NM_001126108.2(SLC12A3):c.2856+18G>A
|
|
|
NM_001126108.2(SLC12A3):c.2856+1G>A
|
rs199974259
|
|
NM_001126108.2(SLC12A3):c.2856+231C>G
|
rs140650555
|
|
NM_001126108.2(SLC12A3):c.2856+259TCC[7]
|
rs113468906
|
|
NM_001126108.2(SLC12A3):c.2856+273del
|
rs575724979
|
|
NM_001126108.2(SLC12A3):c.2856+2T>A
|
rs1473511018
|
|
NM_001126108.2(SLC12A3):c.2856+9A>G
|
rs777687368
|
|
NM_001126108.2(SLC12A3):c.2856+9A>T
|
rs777687368
|
|
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=)
|
rs2144767166
|
|
NM_001126108.2(SLC12A3):c.2857-12T>C
|
|
|
NM_001126108.2(SLC12A3):c.2857-16G>A
|
|
|
NM_001126108.2(SLC12A3):c.2857-17G>C
|
|
|
NM_001126108.2(SLC12A3):c.2857-17_2857-16delinsAA
|
rs2144772184
|
|
NM_001126108.2(SLC12A3):c.2857-18C>A
|
|
|
NM_001126108.2(SLC12A3):c.2857-18C>T
|
rs3816118
|
|
NM_001126108.2(SLC12A3):c.2857-1G>A
|
rs2144772233
|
|
NM_001126108.2(SLC12A3):c.2857-6G>T
|
rs117981500
|
|
NM_001126108.2(SLC12A3):c.2857-8C>G
|
rs1596952680
|
|
NM_001126108.2(SLC12A3):c.2863C>A (p.Arg955=)
|
rs559626481
|
|
NM_001126108.2(SLC12A3):c.2864G>C (p.Arg955Pro)
|
|
|
NM_001126108.2(SLC12A3):c.2866C>G (p.Gln956Glu)
|
|
|
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter)
|
rs761692493
|
|
NM_001126108.2(SLC12A3):c.286G>A (p.Glu96Lys)
|
rs886052156
|
|
NM_001126108.2(SLC12A3):c.286G>C (p.Glu96Gln)
|
rs886052156
|
|
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp)
|
rs773428143
|
|
NM_001126108.2(SLC12A3):c.2874del (p.Arg958fs)
|
|
|
NM_001126108.2(SLC12A3):c.2884A>G (p.Ile962Val)
|
|
|
NM_001126108.2(SLC12A3):c.2889G>T (p.Val963=)
|
rs1414704302
|
|
NM_001126108.2(SLC12A3):c.2890C>T (p.Leu964=)
|
rs1596952788
|
|
NM_001126108.2(SLC12A3):c.2898C>T (p.Tyr966=)
|
|
|
NM_001126108.2(SLC12A3):c.2899T>A (p.Ser967Thr)
|
|
|
NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe)
|
rs755475785
|
|
NM_001126108.2(SLC12A3):c.2902C>A (p.Arg968=)
|
|
|
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter)
|
rs765609579
|
|
NM_001126108.2(SLC12A3):c.2903G>A (p.Arg968Gln)
|
|
|
NM_001126108.2(SLC12A3):c.2907del (p.Asp969fs)
|
rs1267515400
|
|
NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr)
|
rs2144772485
|
|
NM_001126108.2(SLC12A3):c.2913T>G (p.Ala971=)
|
rs923057440
|
|
NM_001126108.2(SLC12A3):c.2916C>T (p.Leu972=)
|
|
|
NM_001126108.2(SLC12A3):c.291C>A (p.Gly97=)
|
|
|
NM_001126108.2(SLC12A3):c.2924+10G>A
|
|
|
NM_001126108.2(SLC12A3):c.2924+148C>T
|
rs2289114
|
|
NM_001126108.2(SLC12A3):c.2924+14G>A
|
|
|
NM_001126108.2(SLC12A3):c.2924+15G>C
|
|
|
NM_001126108.2(SLC12A3):c.2924+1G>A
|
rs2144772551
|
|
NM_001126108.2(SLC12A3):c.2924+7_2924+9del
|
|
|
NM_001126108.2(SLC12A3):c.2924+8G>A
|
|
|
NM_001126108.2(SLC12A3):c.2924+9T>A
|
|
|
NM_001126108.2(SLC12A3):c.2924+9T>C
|
|
|
NM_001126108.2(SLC12A3):c.293_296dup (p.His99fs)
|
rs2144682095
|
|
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu)
|
rs779559035
|
|
NM_001126108.2(SLC12A3):c.297C>T (p.His99=)
|
rs753402173
|
|
NM_001126108.2(SLC12A3):c.298C>T (p.Leu100=)
|
|
|
NM_001126108.2(SLC12A3):c.301C>A (p.His101Asn)
|
|
|
NM_001126108.2(SLC12A3):c.303T>A (p.His101Gln)
|
|
|
NM_001126108.2(SLC12A3):c.308T>C (p.Leu103Pro)
|
rs747197324
|
|
NM_001126108.2(SLC12A3):c.30T>G (p.Pro10=)
|
|
|
NM_001126108.2(SLC12A3):c.312C>G (p.Ala104=)
|
|
|
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp)
|
rs541789117
|
|
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs)
|
rs1294865855
|
|
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln)
|
rs200219778
|
|
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter)
|
rs200219778
|
|
NM_001126108.2(SLC12A3):c.336G>A (p.Glu112=)
|
|
|
NM_001126108.2(SLC12A3):c.342_343dup (p.Asp115fs)
|
|
|
NM_001126108.2(SLC12A3):c.345T>C (p.Asp115=)
|
rs1596885818
|
|
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs)
|
rs1964322654
|
|
NM_001126108.2(SLC12A3):c.360C>A (p.Gly120=)
|
|
|
NM_001126108.2(SLC12A3):c.372C>T (p.Thr124=)
|
rs2144682435
|
|
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
|
|
|
NM_001126108.2(SLC12A3):c.37G>A (p.Ala13Thr)
|
|
|
NM_001126108.2(SLC12A3):c.387C>T (p.Asn129=)
|
|
|
NM_001126108.2(SLC12A3):c.390C>G (p.Pro130=)
|
rs1389415239
|
|
NM_001126108.2(SLC12A3):c.390del (p.Glu131fs)
|
|
|
NM_001126108.2(SLC12A3):c.393G>A (p.Glu131=)
|
|
|
NM_001126108.2(SLC12A3):c.396G>A (p.Glu132=)
|
|
|
NM_001126108.2(SLC12A3):c.401T>C (p.Val134Ala)
|
|
|
NM_001126108.2(SLC12A3):c.403C>G (p.Arg135Gly)
|
|
|
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His)
|
rs769047841
|
|
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser)
|
rs1964322979
|
|
NM_001126108.2(SLC12A3):c.411C>T (p.Gly137=)
|
|
|
NM_001126108.2(SLC12A3):c.423G>A (p.Gly141=)
|
|
|
NM_001126108.2(SLC12A3):c.423G>T (p.Gly141=)
|
|
|
NM_001126108.2(SLC12A3):c.424dup (p.Val142fs)
|
rs1395319276
|
|
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)
|
|
|
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val)
|
rs1964378547
|
|
NM_001126108.2(SLC12A3):c.429+15G>A
|
|
|
NM_001126108.2(SLC12A3):c.429+16G>A
|
|
|
NM_001126108.2(SLC12A3):c.429+19G>A
|
|
|
NM_001126108.2(SLC12A3):c.429+1_429+28del
|
rs2144682680
|
|
NM_001126108.2(SLC12A3):c.429+7G>A
|
|
|
NM_001126108.2(SLC12A3):c.429+7G>T
|
rs960750157
|
|
NM_001126108.2(SLC12A3):c.42T>G (p.Thr14=)
|
rs2144677687
|
|
NM_001126108.2(SLC12A3):c.430-11T>C
|
|
|
NM_001126108.2(SLC12A3):c.430-11del
|
|
|
NM_001126108.2(SLC12A3):c.430-12dup
|
|
|
NM_001126108.2(SLC12A3):c.430-16C>A
|
|
|
NM_001126108.2(SLC12A3):c.430-16C>G
|
|
|
NM_001126108.2(SLC12A3):c.430-19_430-4dup
|
|
|
NM_001126108.2(SLC12A3):c.430-3C>A
|
rs1964407153
|
|
NM_001126108.2(SLC12A3):c.430-3del
|
|
|
NM_001126108.2(SLC12A3):c.430-472_430-461del
|
rs553429427
|
|
NM_001126108.2(SLC12A3):c.433C>A (p.Arg145Ser)
|
rs148945966
|
|
NM_001126108.2(SLC12A3):c.433C>T (p.Arg145Cys)
|
|
|
NM_001126108.2(SLC12A3):c.436del (p.Cys146fs)
|
|
|
NM_001126108.2(SLC12A3):c.43T>C (p.Leu15=)
|
rs2144677701
|
|
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)
|
rs2144677696
|
|
NM_001126108.2(SLC12A3):c.444C>G (p.Leu148=)
|
|
|
NM_001126108.2(SLC12A3):c.444C>T (p.Leu148=)
|
|
|
NM_001126108.2(SLC12A3):c.450T>A (p.Ile150=)
|
rs143714318
|
|
NM_001126108.2(SLC12A3):c.450T>C (p.Ile150=)
|
rs143714318
|
|
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met)
|
rs143714318
|
|
NM_001126108.2(SLC12A3):c.452G>A (p.Trp151Ter)
|
|
|
NM_001126108.2(SLC12A3):c.459G>A (p.Val153=)
|
rs1964408982
|
|
NM_001126108.2(SLC12A3):c.465C>T (p.Leu155=)
|
rs2144685229
|
|
NM_001126108.2(SLC12A3):c.466dup (p.Tyr156fs)
|
|
|
NM_001126108.2(SLC12A3):c.46_47del (p.Cys16fs)
|
rs1567423490
|
|
NM_001126108.2(SLC12A3):c.474G>A (p.Arg158=)
|
rs535604077
|
|
NM_001126108.2(SLC12A3):c.474G>C (p.Arg158=)
|
rs535604077
|
|
NM_001126108.2(SLC12A3):c.474G>T (p.Arg158=)
|
rs535604077
|
|
NM_001126108.2(SLC12A3):c.477G>C (p.Leu159=)
|
rs2144685297
|
|
NM_001126108.2(SLC12A3):c.480C>T (p.Pro160=)
|
|
|
NM_001126108.2(SLC12A3):c.486_489del (p.Ile162fs)
|
|
|
NM_001126108.2(SLC12A3):c.486_490delinsA (p.Thr163fs)
|
|
|
NM_001126108.2(SLC12A3):c.489G>A (p.Thr163=)
|
|
|
NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=)
|
rs766590120
|
|
NM_001126108.2(SLC12A3):c.502_505+3delinsT
|
|
|
NM_001126108.2(SLC12A3):c.505+13C>G
|
|
|
NM_001126108.2(SLC12A3):c.505+13C>T
|
|
|
NM_001126108.2(SLC12A3):c.505+14T>G
|
|
|
NM_001126108.2(SLC12A3):c.505+3G>T
|
|
|
NM_001126108.2(SLC12A3):c.505+5G>A
|
rs751112698
|
|
NM_001126108.2(SLC12A3):c.505+8C>A
|
|
|
NM_001126108.2(SLC12A3):c.505+9C>T
|
|
|
NM_001126108.2(SLC12A3):c.505G>A (p.Val169Ile)
|
|
|
NM_001126108.2(SLC12A3):c.506-10C>A
|
|
|
NM_001126108.2(SLC12A3):c.506-11G>T
|
|
|
NM_001126108.2(SLC12A3):c.506-19C>A
|
|
|
NM_001126108.2(SLC12A3):c.506-2A>G
|
|
|
NM_001126108.2(SLC12A3):c.507C>A (p.Val169=)
|
|
|
NM_001126108.2(SLC12A3):c.508C>T (p.Leu170=)
|
|
|
NM_001126108.2(SLC12A3):c.509T>A (p.Leu170Gln)
|
|
|
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)
|
rs1596890176
|
|
NM_001126108.2(SLC12A3):c.510G>A (p.Leu170=)
|
|
|
NM_001126108.2(SLC12A3):c.512C>A (p.Thr171Asn)
|
|
|
NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg)
|
|
|
NM_001126108.2(SLC12A3):c.51C>T (p.Ser17=)
|
rs369795019
|
|
NM_001126108.2(SLC12A3):c.522C>T (p.Ile174=)
|
rs2144688394
|
|
NM_001126108.2(SLC12A3):c.528G>C (p.Leu176=)
|
|
|
NM_001126108.2(SLC12A3):c.528G>T (p.Leu176=)
|
|
|
NM_001126108.2(SLC12A3):c.531G>A (p.Leu177=)
|
rs2144688450
|
|
NM_001126108.2(SLC12A3):c.531G>T (p.Leu177=)
|
|
|
NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp)
|
|
|
NM_001126108.2(SLC12A3):c.536T>A (p.Val179Asp)
|
|
|
NM_001126108.2(SLC12A3):c.538A>T (p.Thr180Ser)
|
|
|
NM_001126108.2(SLC12A3):c.539C>T (p.Thr180Met)
|
rs146158333
|
|
NM_001126108.2(SLC12A3):c.540G>T (p.Thr180=)
|
rs941590624
|
|
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)
|
rs770513014
|
|
NM_001126108.2(SLC12A3):c.54G>A (p.Gly18=)
|
rs2144677762
|
|
NM_001126108.2(SLC12A3):c.558C>T (p.Gly186=)
|
|
|
NM_001126108.2(SLC12A3):c.55del (p.Arg19fs)
|
rs2144677775
|
|
NM_001126108.2(SLC12A3):c.567C>T (p.Ile189=)
|
|
|
NM_001126108.2(SLC12A3):c.569C>A (p.Ser190Ter)
|
rs2144688604
|
|
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)
|
rs758683818
|
|
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)
|
|
|
NM_001126108.2(SLC12A3):c.581C>T (p.Thr194Ile)
|
|
|
NM_001126108.2(SLC12A3):c.582C>G (p.Thr194=)
|
|
|
NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val)
|
|
|
NM_001126108.2(SLC12A3):c.5C>G (p.Ala2Gly)
|
rs1365506259
|
|
NM_001126108.2(SLC12A3):c.601+12C>T
|
|
|
NM_001126108.2(SLC12A3):c.601+13C>G
|
|
|
NM_001126108.2(SLC12A3):c.601+14C>T
|
|
|
NM_001126108.2(SLC12A3):c.601+18C>T
|
|
|
NM_001126108.2(SLC12A3):c.601+1G>C
|
|
|
NM_001126108.2(SLC12A3):c.601+8A>T
|
rs1406338833
|
|
NM_001126108.2(SLC12A3):c.601+9T>C
|
rs2144688707
|
|
NM_001126108.2(SLC12A3):c.602-11T>A
|
rs2055071198
|
|
NM_001126108.2(SLC12A3):c.602-17C>T
|
|
|
NM_001126108.2(SLC12A3):c.602-19C>G
|
|
|
NM_001126108.2(SLC12A3):c.602-1G>A
|
rs2055071377
|
|
NM_001126108.2(SLC12A3):c.602-5G>A
|
|
|
NM_001126108.2(SLC12A3):c.602-6T>C
|
|
|
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val)
|
rs2144689378
|
|
NM_001126108.2(SLC12A3):c.612C>G (p.Tyr204Ter)
|
|
|
NM_001126108.2(SLC12A3):c.612C>T (p.Tyr204=)
|
rs1300667536
|
|
NM_001126108.2(SLC12A3):c.615C>T (p.Phe205=)
|
|
|
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro)
|
rs758035631
|
|
NM_001126108.2(SLC12A3):c.634G>A (p.Gly212Ser)
|
rs1238543321
|
|
NM_001126108.2(SLC12A3):c.635G>T (p.Gly212Val)
|
rs1202006117
|
|
NM_001126108.2(SLC12A3):c.639A>G (p.Pro213=)
|
rs2144689478
|
|
NM_001126108.2(SLC12A3):c.645T>G (p.Leu215=)
|
|
|
NM_001126108.2(SLC12A3):c.647G>A (p.Gly216Glu)
|
|
|
NM_001126108.2(SLC12A3):c.659del (p.Gly220fs)
|
rs2144689577
|
|
NM_001126108.2(SLC12A3):c.663C>T (p.Leu221=)
|
|
|
NM_001126108.2(SLC12A3):c.66C>T (p.Ile22=)
|
|
|
NM_001126108.2(SLC12A3):c.670G>A (p.Ala224Thr)
|
|
|
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp)
|
rs1437937060
|
|
NM_001126108.2(SLC12A3):c.671_672del (p.Ala224fs)
|
|
|
NM_001126108.2(SLC12A3):c.672T>C (p.Ala224=)
|
rs2144689619
|
|
NM_001126108.2(SLC12A3):c.676G>A (p.Ala226Thr)
|
|
|
NM_001126108.2(SLC12A3):c.676G>T (p.Ala226Ser)
|
|
|
NM_001126108.2(SLC12A3):c.687G>T (p.Val229=)
|
rs2144689704
|
|
NM_001126108.2(SLC12A3):c.696C>T (p.Ala232=)
|
|
|
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
|
|
|
NM_001126108.2(SLC12A3):c.710G>C (p.Gly237Ala)
|
|
|
NM_001126108.2(SLC12A3):c.711C>A (p.Gly237=)
|
|
|
NM_001126108.2(SLC12A3):c.714T>C (p.Phe238=)
|
|
|
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)
|
rs2144689801
|
|
NM_001126108.2(SLC12A3):c.720G>A (p.Glu240=)
|
|
|
NM_001126108.2(SLC12A3):c.723C>G (p.Thr241=)
|
|
|
NM_001126108.2(SLC12A3):c.723del (p.Val242fs)
|
|
|
NM_001126108.2(SLC12A3):c.732C>T (p.Asp244=)
|
|
|
NM_001126108.2(SLC12A3):c.738C>G (p.Leu246=)
|
rs1482785143
|
|
NM_001126108.2(SLC12A3):c.738C>T (p.Leu246=)
|
rs1482785143
|
|
NM_001126108.2(SLC12A3):c.73del (p.Leu25fs)
|
rs1555499123
|
|
NM_001126108.2(SLC12A3):c.741+10G>C
|
|
|
NM_001126108.2(SLC12A3):c.741+12G>T
|
|
|
NM_001126108.2(SLC12A3):c.741+13G>A
|
|
|
NM_001126108.2(SLC12A3):c.741+14G>A
|
|
|
NM_001126108.2(SLC12A3):c.741+14del
|
|
|
NM_001126108.2(SLC12A3):c.741+14dup
|
|
|
NM_001126108.2(SLC12A3):c.741+18G>C
|
|
|
NM_001126108.2(SLC12A3):c.741+19A>G
|
|
|
NM_001126108.2(SLC12A3):c.741+20C>T
|
|
|
NM_001126108.2(SLC12A3):c.741+2T>G
|
|
|
NM_001126108.2(SLC12A3):c.741+4A>G
|
|
|
NM_001126108.2(SLC12A3):c.741+8C>G
|
rs200257610
|
|
NM_001126108.2(SLC12A3):c.741+8C>T
|
rs200257610
|
|
NM_001126108.2(SLC12A3):c.741+9G>T
|
|
|
NM_001126108.2(SLC12A3):c.742-10C>T
|
|
|
NM_001126108.2(SLC12A3):c.742-13T>A
|
|
|
NM_001126108.2(SLC12A3):c.742-15A>G
|
|
|
NM_001126108.2(SLC12A3):c.744G>T (p.Glu248Asp)
|
|
|
NM_001126108.2(SLC12A3):c.750G>A (p.Gly250=)
|
|
|
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)
|
|
|
NM_001126108.2(SLC12A3):c.752C>T (p.Ala251Val)
|
|
|
NM_001126108.2(SLC12A3):c.754C>G (p.Pro252Ala)
|
|
|
NM_001126108.2(SLC12A3):c.765C>T (p.Asp255=)
|
|
|
NM_001126108.2(SLC12A3):c.779T>C (p.Ile260Thr)
|
|
|
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)
|
|
|
NM_001126108.2(SLC12A3):c.786C>T (p.Ile262=)
|
|
|
NM_001126108.2(SLC12A3):c.788T>C (p.Ile263Thr)
|
|
|
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
|
|
|
NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp)
|
rs1529927
|
|
NM_001126108.2(SLC12A3):c.791_792delinsGA (p.Ala264Gly)
|
rs2144690944
|
|
NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly)
|
rs2055081574
|
|
NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=)
|
|
|
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
|
|
|
NM_001126108.2(SLC12A3):c.798C>G (p.Val266=)
|
|
|
NM_001126108.2(SLC12A3):c.800C>T (p.Ser267Leu)
|
|
|
NM_001126108.2(SLC12A3):c.803T>A (p.Val268Asp)
|
|
|
NM_001126108.2(SLC12A3):c.811C>T (p.Leu271=)
|
|
|
NM_001126108.2(SLC12A3):c.813G>T (p.Leu271=)
|
|
|
NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs)
|
rs2055082369
|
|
NM_001126108.2(SLC12A3):c.822C>A (p.Ile274=)
|
|
|
NM_001126108.2(SLC12A3):c.823_824dup (p.Leu276fs)
|
|
|
NM_001126108.2(SLC12A3):c.825C>G (p.Ser275=)
|
|
|
NM_001126108.2(SLC12A3):c.828G>A (p.Leu276=)
|
|
|
NM_001126108.2(SLC12A3):c.831T>C (p.Ala277=)
|
|
|
NM_001126108.2(SLC12A3):c.836T>G (p.Met279Arg)
|
|
|
NM_001126108.2(SLC12A3):c.840G>A (p.Glu280=)
|
rs1416528162
|
|
NM_001126108.2(SLC12A3):c.841_842insA (p.Trp281Ter)
|
|
|
NM_001126108.2(SLC12A3):c.842G>A (p.Trp281Ter)
|
|
|
NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs)
|
|
|
NM_001126108.2(SLC12A3):c.852+117dup
|
rs71152213
|
|
NM_001126108.2(SLC12A3):c.852+18G>A
|
|
|
NM_001126108.2(SLC12A3):c.852+18G>T
|
|
|
NM_001126108.2(SLC12A3):c.852+19A>T
|
|
|
NM_001126108.2(SLC12A3):c.852+19_852+33dup
|
rs2144691217
|
|
NM_001126108.2(SLC12A3):c.852+1G>A
|
rs2055084531
|
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NM_001126108.2(SLC12A3):c.852+20G>C
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NM_001126108.2(SLC12A3):c.852+7_852+9del
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rs758702370
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NM_001126108.2(SLC12A3):c.853-11G>A
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NM_001126108.2(SLC12A3):c.853-16C>T
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NM_001126108.2(SLC12A3):c.853-18G>A
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NM_001126108.2(SLC12A3):c.853-18G>T
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NM_001126108.2(SLC12A3):c.853-19G>A
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NM_001126108.2(SLC12A3):c.853-1G>A
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NM_001126108.2(SLC12A3):c.853-4C>A
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NM_001126108.2(SLC12A3):c.853-7C>T
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NM_001126108.2(SLC12A3):c.853-8C>T
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NM_001126108.2(SLC12A3):c.855C>T (p.Ala285=)
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NM_001126108.2(SLC12A3):c.861G>A (p.Val287=)
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rs387907473
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NM_001126108.2(SLC12A3):c.861G>T (p.Val287=)
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rs387907473
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NM_001126108.2(SLC12A3):c.863T>G (p.Leu288Arg)
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NM_001126108.2(SLC12A3):c.864G>A (p.Leu288=)
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NM_001126108.2(SLC12A3):c.871del (p.Val292fs)
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NM_001126108.2(SLC12A3):c.876C>T (p.Val292=)
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rs2144694747
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NM_001126108.2(SLC12A3):c.885C>A (p.Val295=)
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rs1373334411
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NM_001126108.2(SLC12A3):c.885C>T (p.Val295=)
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rs1373334411
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NM_001126108.2(SLC12A3):c.887C>T (p.Ser296Phe)
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rs2144694797
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NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter)
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rs751675724
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NM_001126108.2(SLC12A3):c.900T>C (p.Tyr300=)
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rs1390944989
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NM_001126108.2(SLC12A3):c.906G>T (p.Val302=)
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NM_001126108.2(SLC12A3):c.921C>G (p.Pro307=)
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rs2144694916
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NM_001126108.2(SLC12A3):c.923C>T (p.Pro308Leu)
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NM_001126108.2(SLC12A3):c.923dup (p.Ser309fs)
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rs2055109918
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NM_001126108.2(SLC12A3):c.931G>A (p.Asp311Asn)
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NM_001126108.2(SLC12A3):c.933del (p.Asp311fs)
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NM_001126108.2(SLC12A3):c.939C>G (p.Ala313=)
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rs2144694977
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NM_001126108.2(SLC12A3):c.941C>T (p.Ser314Phe)
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rs1555499734
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NM_001126108.2(SLC12A3):c.945A>G (p.Lys315=)
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rs1596895497
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NM_001126108.2(SLC12A3):c.945del (p.Gly316fs)
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NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
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rs748920885
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NM_001126108.2(SLC12A3):c.954C>T (p.Phe318=)
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rs2144695018
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NM_001126108.2(SLC12A3):c.957C>T (p.Ser319=)
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NM_001126108.2(SLC12A3):c.964+14A>G
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NM_001126108.2(SLC12A3):c.964+1G>A
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rs1596895536
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NM_001126108.2(SLC12A3):c.964+1G>T
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rs1596895536
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NM_001126108.2(SLC12A3):c.964+20C>A
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NM_001126108.2(SLC12A3):c.964+20C>T
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NM_001126108.2(SLC12A3):c.964+20del
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NM_001126108.2(SLC12A3):c.964G>T (p.Ala322Ser)
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NM_001126108.2(SLC12A3):c.965-10G>C
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NM_001126108.2(SLC12A3):c.965-13C>T
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NM_001126108.2(SLC12A3):c.965-17dup
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NM_001126108.2(SLC12A3):c.965-18C>A
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NM_001126108.2(SLC12A3):c.965-9C>A
|
rs2144695439
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NM_001126108.2(SLC12A3):c.976del (p.Val326fs)
|
rs1215667472
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NM_001126108.2(SLC12A3):c.979del (p.Gln327fs)
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NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs)
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rs2144695518
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NM_001126108.2(SLC12A3):c.996C>T (p.Asp332=)
|
rs967928519
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NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]
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