NM_001098484.3(SLC4A4):c.2937+22C>T
|
rs1453474
|
0.85968
|
NM_001098484.3(SLC4A4):c.2991C>T (p.His997=)
|
rs1453458
|
0.85630
|
NM_001098484.3(SLC4A4):c.*2767A>G
|
rs1043218
|
0.71793
|
NM_001098484.3(SLC4A4):c.*938G>C
|
rs1062679
|
0.22831
|
NM_001098484.3(SLC4A4):c.*77A>C
|
rs1062677
|
0.18093
|
NM_001098484.3(SLC4A4):c.*175del
|
rs138389345
|
0.17341
|
NM_001098484.3(SLC4A4):c.2443-38G>A
|
rs3733362
|
0.17313
|
NM_001098484.3(SLC4A4):c.253+47A>G
|
rs4694388
|
0.16961
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT
|
rs773069537
|
0.12949
|
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)
|
rs3807153
|
0.09195
|
NM_001098484.3(SLC4A4):c.*1377G>C
|
rs3775157
|
0.06925
|
NM_001098484.3(SLC4A4):c.1014C>T (p.His338=)
|
rs34373561
|
0.03058
|
NM_001098484.3(SLC4A4):c.*2028A>G
|
rs72854478
|
0.02380
|
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=)
|
rs35169468
|
0.01254
|
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)
|
rs16846517
|
0.01187
|
NM_020632.3(ATP6V0A4):c.417+14G>C
|
rs141824671
|
0.01075
|
NM_001098484.3(SLC4A4):c.*2416A>G
|
rs16846678
|
0.01010
|
NM_001098484.3(SLC4A4):c.*3106G>A
|
rs114563047
|
0.00995
|
NM_001098484.3(SLC4A4):c.*272T>C
|
rs142360815
|
0.00942
|
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=)
|
rs77328827
|
0.00942
|
NM_001098484.3(SLC4A4):c.*1206A>G
|
rs72854469
|
0.00833
|
NM_001098484.3(SLC4A4):c.*2428T>C
|
rs114778480
|
0.00736
|
NM_020632.3(ATP6V0A4):c.816+19C>T
|
rs80076422
|
0.00643
|
NM_001098484.3(SLC4A4):c.*2864G>A
|
rs72854486
|
0.00630
|
NM_001098484.3(SLC4A4):c.*1220G>A
|
rs72854471
|
0.00627
|
NM_001098484.3(SLC4A4):c.*2353C>G
|
rs72854484
|
0.00624
|
NM_001098484.3(SLC4A4):c.*2329A>C
|
rs72854481
|
0.00622
|
NM_001098484.3(SLC4A4):c.*1986G>A
|
rs72854477
|
0.00620
|
NM_001098484.3(SLC4A4):c.*1665C>T
|
rs72854473
|
0.00592
|
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln)
|
rs140846842
|
0.00528
|
NM_001098484.3(SLC4A4):c.*2152G>T
|
rs151178899
|
0.00498
|
NM_001098484.3(SLC4A4):c.2764-2dup
|
rs148961885
|
0.00498
|
NM_001098484.3(SLC4A4):c.*1003A>G
|
rs41265675
|
0.00458
|
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)
|
rs34772799
|
0.00346
|
NM_001098484.3(SLC4A4):c.*3469A>G
|
rs183839914
|
0.00317
|
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)
|
rs6956646
|
0.00297
|
NM_001098484.3(SLC4A4):c.550+3A>G
|
rs199790542
|
0.00289
|
NM_001098484.3(SLC4A4):c.*1228A>G
|
rs116277651
|
0.00265
|
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg)
|
rs72650362
|
0.00264
|
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=)
|
rs114698511
|
0.00156
|
NM_001098484.3(SLC4A4):c.807+13T>G
|
rs116455604
|
0.00154
|
NM_020632.3(ATP6V0A4):c.1573-3C>T
|
rs182512951
|
0.00153
|
NM_001098484.3(SLC4A4):c.2311C>T (p.Pro771Ser)
|
rs140882617
|
0.00151
|
NM_001098484.3(SLC4A4):c.2051A>T (p.Asn684Ile)
|
rs35891845
|
0.00148
|
NM_001098484.3(SLC4A4):c.254-200T>C
|
rs150718042
|
0.00144
|
NM_001098484.3(SLC4A4):c.*1467T>G
|
rs181712084
|
0.00143
|
NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp)
|
rs148635969
|
0.00135
|
NM_001098484.3(SLC4A4):c.1322+15C>T
|
rs151292808
|
0.00130
|
NM_001098484.3(SLC4A4):c.520C>T (p.Arg174Trp)
|
rs149802590
|
0.00111
|
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=)
|
rs146394238
|
0.00110
|
NM_001098484.3(SLC4A4):c.1942G>A (p.Glu648Lys)
|
rs145378038
|
0.00097
|
NM_001098484.3(SLC4A4):c.*1077C>A
|
rs770869850
|
0.00092
|
NM_001098484.3(SLC4A4):c.*3994C>T
|
rs144720176
|
0.00087
|
NM_001098484.3(SLC4A4):c.*3577A>G
|
rs188350612
|
0.00086
|
NM_001098484.3(SLC4A4):c.687G>A (p.Lys229=)
|
rs147651604
|
0.00079
|
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=)
|
rs141568521
|
0.00070
|
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser)
|
rs150863118
|
0.00066
|
NM_020632.3(ATP6V0A4):c.2011-8G>A
|
rs183571925
|
0.00061
|
NM_001098484.3(SLC4A4):c.2674T>C (p.Phe892Leu)
|
rs138942006
|
0.00059
|
NM_001098484.3(SLC4A4):c.3099+15A>G
|
rs576304574
|
0.00058
|
NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val)
|
rs138493429
|
0.00035
|
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp)
|
rs147889261
|
0.00035
|
NM_001098484.3(SLC4A4):c.*3713T>G
|
rs762831035
|
0.00032
|
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)
|
rs200226048
|
0.00031
|
NM_001098484.3(SLC4A4):c.1260C>G (p.Pro420=)
|
rs137982286
|
0.00030
|
NM_001098484.3(SLC4A4):c.942G>C (p.Leu314=)
|
rs146008079
|
0.00030
|
NM_001098484.3(SLC4A4):c.*2819A>C
|
rs886059613
|
0.00029
|
NM_001098484.3(SLC4A4):c.390-11C>T
|
rs201092552
|
0.00029
|
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile)
|
rs201643562
|
0.00028
|
NM_020632.3(ATP6V0A4):c.1030-18T>C
|
rs769523748
|
0.00027
|
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe)
|
rs144697860
|
0.00027
|
NM_001098484.3(SLC4A4):c.2010G>A (p.Ser670=)
|
rs147661107
|
0.00026
|
NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala)
|
rs148889712
|
0.00024
|
NM_001098484.3(SLC4A4):c.3177C>T (p.Ser1059=)
|
rs139191615
|
0.00023
|
NM_001098484.3(SLC4A4):c.*2975G>A
|
rs554658080
|
0.00021
|
NM_001098484.3(SLC4A4):c.*2447A>G
|
rs972565063
|
0.00020
|
NM_001098484.3(SLC4A4):c.*1065A>C
|
rs886059602
|
0.00019
|
NM_001098484.3(SLC4A4):c.*217A>G
|
rs182103477
|
0.00019
|
NM_001098484.3(SLC4A4):c.*2995G>A
|
rs1019870008
|
0.00019
|
NM_001098484.3(SLC4A4):c.*734G>A
|
rs768817613
|
0.00017
|
NM_001098484.3(SLC4A4):c.*1822del
|
rs567579582
|
0.00016
|
NM_001098484.3(SLC4A4):c.633G>A (p.Lys211=)
|
rs145739451
|
0.00016
|
NM_001098484.3(SLC4A4):c.*1067A>G
|
rs763542144
|
0.00015
|
NM_001098484.3(SLC4A4):c.*1202A>G
|
rs367598789
|
0.00015
|
NM_001098484.3(SLC4A4):c.*4017C>T
|
rs775900876
|
0.00015
|
NM_001098484.3(SLC4A4):c.*1526C>A
|
rs1028183538
|
0.00011
|
NM_001098484.3(SLC4A4):c.2925T>C (p.Ile975=)
|
rs143924311
|
0.00011
|
NM_001098484.3(SLC4A4):c.*2365G>A
|
rs886059612
|
0.00010
|
NM_003759.4(SLC4A4):c.70T>A (p.Phe24Ile)
|
rs200944017
|
0.00010
|
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg)
|
rs267606671
|
0.00010
|
NM_001098484.3(SLC4A4):c.*1761G>A
|
rs886059607
|
0.00009
|
NM_001098484.3(SLC4A4):c.*3056A>G
|
rs115315237
|
0.00009
|
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg)
|
rs145013450
|
0.00009
|
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala)
|
rs140896827
|
0.00009
|
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg)
|
rs371213982
|
0.00009
|
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp)
|
rs767146505
|
0.00009
|
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser)
|
rs190792699
|
0.00008
|
NM_001098484.3(SLC4A4):c.*3802C>T
|
rs751548567
|
0.00006
|
NM_001098484.3(SLC4A4):c.*761T>C
|
rs576650368
|
0.00006
|
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)
|
rs771339934
|
0.00006
|
NM_001098484.3(SLC4A4):c.2031C>T (p.Tyr677=)
|
rs200126485
|
0.00006
|
NM_001098484.3(SLC4A4):c.511A>G (p.Met171Val)
|
rs139851720
|
0.00006
|
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met)
|
rs368301208
|
0.00006
|
NM_020632.3(ATP6V0A4):c.1909-19C>T
|
rs373949515
|
0.00006
|
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn)
|
rs147475779
|
0.00006
|
NM_001098484.3(SLC4A4):c.*1707A>G
|
rs369867972
|
0.00005
|
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg)
|
rs368553213
|
0.00005
|
NM_000183.3(HADHB):c.110-2324G>C
|
rs764471823
|
0.00004
|
NM_001098484.3(SLC4A4):c.*1009A>G
|
rs1344323489
|
0.00004
|
NM_001098484.3(SLC4A4):c.*1438C>T
|
rs886059604
|
0.00004
|
NM_001098484.3(SLC4A4):c.*1945A>T
|
rs375540927
|
0.00004
|
NM_001098484.3(SLC4A4):c.*1956T>C
|
rs866386860
|
0.00004
|
NM_001098484.3(SLC4A4):c.*2346T>C
|
rs369784676
|
0.00004
|
NM_001098484.3(SLC4A4):c.*3370C>T
|
rs547564634
|
0.00004
|
NM_001098484.3(SLC4A4):c.*628T>G
|
rs368650087
|
0.00004
|
NM_001098484.3(SLC4A4):c.2694+10T>A
|
rs779558159
|
0.00004
|
NM_001098484.3(SLC4A4):c.2941T>C (p.Leu981=)
|
rs147261946
|
0.00004
|
NM_001098484.3(SLC4A4):c.*2916A>G
|
rs886059614
|
0.00003
|
NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys)
|
rs201133749
|
0.00003
|
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val)
|
rs772360411
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile)
|
rs150912912
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)
|
rs1252623454
|
0.00003
|
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg)
|
rs376273720
|
0.00003
|
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg)
|
rs141194465
|
0.00003
|
NM_001098484.3(SLC4A4):c.*1509A>G
|
rs1324268886
|
0.00002
|
NM_001098484.3(SLC4A4):c.*3702T>C
|
rs1001169644
|
0.00002
|
NM_001098484.3(SLC4A4):c.1638T>C (p.Asn546=)
|
rs143082796
|
0.00002
|
NM_001098484.3(SLC4A4):c.3100-3C>T
|
rs886059598
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)
|
rs754517968
|
0.00002
|
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg)
|
rs767611310
|
0.00002
|
NM_020632.3(ATP6V0A4):c.417+8C>T
|
rs767661194
|
0.00002
|
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)
|
rs747337202
|
0.00001
|
NM_001098484.3(SLC4A4):c.*1184T>C
|
rs1578205840
|
0.00001
|
NM_001098484.3(SLC4A4):c.*1407A>C
|
rs886059603
|
0.00001
|
NM_001098484.3(SLC4A4):c.*1536T>G
|
rs192465453
|
0.00001
|
NM_001098484.3(SLC4A4):c.*1627A>T
|
rs1465519762
|
0.00001
|
NM_001098484.3(SLC4A4):c.*2002C>A
|
rs886059609
|
0.00001
|
NM_001098484.3(SLC4A4):c.*2172A>G
|
rs1196015939
|
0.00001
|
NM_001098484.3(SLC4A4):c.*2863C>T
|
rs953855379
|
0.00001
|
NM_001098484.3(SLC4A4):c.*286A>G
|
rs531414310
|
0.00001
|
NM_001098484.3(SLC4A4):c.*3712T>C
|
rs886059617
|
0.00001
|
NM_001098484.3(SLC4A4):c.*4028A>G
|
rs565713938
|
0.00001
|
NM_001098484.3(SLC4A4):c.*695C>G
|
rs1737689045
|
0.00001
|
NM_001098484.3(SLC4A4):c.*708C>A
|
rs886059600
|
0.00001
|
NM_001098484.3(SLC4A4):c.1257G>A (p.Thr419=)
|
rs201149572
|
0.00001
|
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His)
|
rs121908857
|
0.00001
|
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe)
|
rs202236628
|
0.00001
|
NM_001098484.3(SLC4A4):c.3213A>G (p.Thr1071=)
|
rs770868684
|
0.00001
|
NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met)
|
rs748205618
|
0.00001
|
NM_001098484.3(SLC4A4):c.965+11C>T
|
rs550285672
|
0.00001
|
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)
|
rs1288346981
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1029+4C>A
|
rs745448000
|
0.00001
|
NM_020632.3(ATP6V0A4):c.118-10G>A
|
rs191616896
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys)
|
rs370116072
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu)
|
rs121908368
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1691+1G>A
|
rs587776615
|
0.00001
|
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter)
|
rs769417807
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)
|
rs121908367
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
|
rs28939081
|
0.00001
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)
|
rs878853002
|
|
NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile)
|
rs2047339489
|
|
NM_001098484.3(SLC4A4):c.*1028A>G
|
rs867289166
|
|
NM_001098484.3(SLC4A4):c.*1450C>T
|
rs886059605
|
|
NM_001098484.3(SLC4A4):c.*1617C>A
|
rs886059606
|
|
NM_001098484.3(SLC4A4):c.*1821del
|
rs886059608
|
|
NM_001098484.3(SLC4A4):c.*2126A>G
|
rs1737801354
|
|
NM_001098484.3(SLC4A4):c.*2184C>T
|
rs886059610
|
|
NM_001098484.3(SLC4A4):c.*2281dup
|
rs569665634
|
|
NM_001098484.3(SLC4A4):c.*26G>A
|
rs200777620
|
|
NM_001098484.3(SLC4A4):c.*26G>T
|
rs200777620
|
|
NM_001098484.3(SLC4A4):c.*3016T>C
|
rs1737886382
|
|
NM_001098484.3(SLC4A4):c.*3080T>C
|
rs886059615
|
|
NM_001098484.3(SLC4A4):c.*3574A>G
|
rs1737924001
|
|
NM_001098484.3(SLC4A4):c.*3615C>T
|
rs886059616
|
|
NM_001098484.3(SLC4A4):c.*3747G>A
|
rs886059618
|
|
NM_001098484.3(SLC4A4):c.*411G>C
|
rs1453452
|
|
NM_001098484.3(SLC4A4):c.*517G>A
|
rs886059599
|
|
NM_001098484.3(SLC4A4):c.*552A>C
|
rs553403475
|
|
NM_001098484.3(SLC4A4):c.*58del
|
rs796456055
|
|
NM_001098484.3(SLC4A4):c.*748T>C
|
rs1217826942
|
|
NM_001098484.3(SLC4A4):c.*815C>T
|
rs886059601
|
|
NM_001098484.3(SLC4A4):c.*880T>A
|
rs748345541
|
|
NM_001098484.3(SLC4A4):c.*989T>A
|
rs34921070
|
|
NM_001098484.3(SLC4A4):c.*989T>C
|
rs34921070
|
|
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser)
|
rs121908856
|
|
NM_001098484.3(SLC4A4):c.1132A>C (p.Ile378Leu)
|
rs886059595
|
|
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)
|
|
|
NM_001098484.3(SLC4A4):c.1235A>G (p.Asn412Ser)
|
rs886059596
|
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73del
|
rs747897537
|
|
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=)
|
rs145593845
|
|
NM_001098484.3(SLC4A4):c.254-187G>A
|
rs1728681523
|
|
NM_001098484.3(SLC4A4):c.2547T>G (p.Ile849Met)
|
rs1735529581
|
|
NM_001098484.3(SLC4A4):c.2612T>G (p.Leu871Arg)
|
rs1735535325
|
|
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His)
|
rs1736599400
|
|
NM_001098484.3(SLC4A4):c.290G>A (p.Gly97Glu)
|
rs781030949
|
|
NM_001098484.3(SLC4A4):c.2951T>C (p.Val984Ala)
|
|
|
NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr)
|
rs1737540024
|
|
NM_001098484.3(SLC4A4):c.390-5C>T
|
rs181184794
|
|
NM_001098484.3(SLC4A4):c.808-4G>T
|
rs886059594
|
|
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)
|
rs1553913019
|
|
NM_001098484.3(SLC4A4):c.915A>G (p.Leu305=)
|
rs776706481
|
|
NM_001128831.4(CA1):c.368_369del (p.His123fs)
|
rs768769200
|
|
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)
|
rs1680670309
|
|
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter)
|
rs121908858
|
|
NM_020632.3(ATP6V0A4):c.1030-2A>C
|
|
|
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs)
|
rs587776616
|
|
NM_020632.3(ATP6V0A4):c.1238G>A (p.Gly413Asp)
|
|
|
NM_020632.3(ATP6V0A4):c.1333TTC[1] (p.Phe446del)
|
|
|
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)
|
rs121908369
|
|
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
|
|
|
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
|
|
|
NM_020632.3(ATP6V0A4):c.1613C>T (p.Ser538Leu)
|
|
|
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys)
|
rs369486474
|
|
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr)
|
rs774244498
|
|
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)
|
rs1584907924
|
|
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter)
|
rs1464966535
|
|
NM_020632.3(ATP6V0A4):c.196+4A>G
|
|
|
NM_020632.3(ATP6V0A4):c.1997A>G (p.His666Arg)
|
|
|
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
|
|
|
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs)
|
rs1804439932
|
|
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
|
|
|
NM_020632.3(ATP6V0A4):c.2430-19G>A
|
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020632.3(ATP6V0A4):c.418-1G>A
|
rs587776617
|
|
NM_020632.3(ATP6V0A4):c.640-29dup
|
rs72044473
|
|
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs)
|
rs2117291505
|
|