NM_012463.4(ATP6V0A2):c.2056-333C>T
|
rs7309294
|
0.99192
|
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)
|
rs7135542
|
0.71178
|
NM_012463.4(ATP6V0A2):c.294+103T>C
|
rs7301641
|
0.66467
|
NM_012463.4(ATP6V0A2):c.294+217T>C
|
rs9787987
|
0.66334
|
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)
|
rs1139789
|
0.66312
|
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)
|
rs1399961
|
0.66054
|
NM_012463.4(ATP6V0A2):c.649-114T>G
|
rs10744159
|
0.66049
|
NM_012463.4(ATP6V0A2):c.731+242A>G
|
rs2271662
|
0.66048
|
NM_012463.4(ATP6V0A2):c.732-287C>T
|
rs10773030
|
0.66031
|
NM_012463.4(ATP6V0A2):c.432+14C>T
|
rs11837144
|
0.65907
|
NM_012463.4(ATP6V0A2):c.732-168T>C
|
rs2271661
|
0.59203
|
NM_012463.4(ATP6V0A2):c.433-195C>T
|
rs882563
|
0.52536
|
NM_012463.4(ATP6V0A2):c.294+214C>T
|
rs9788204
|
0.52368
|
NM_012463.4(ATP6V0A2):c.117+51A>C
|
rs66647364
|
0.41348
|
NC_000012.12:g.123712059T>A
|
rs117336016
|
0.33948
|
NC_000012.12:g.123712057T>A
|
rs146184147
|
0.33882
|
NM_012463.4(ATP6V0A2):c.2465+58T>C
|
rs56862679
|
0.12829
|
NM_012463.4(ATP6V0A2):c.2055+114A>G
|
rs7956769
|
0.07450
|
NC_000012.12:g.123712067A>G
|
rs11057336
|
0.07149
|
NM_012463.4(ATP6V0A2):c.2055+252C>T
|
rs7973463
|
0.05355
|
NM_012463.3(ATP6V0A2):c.-399A>T
|
rs116592138
|
0.05048
|
NM_012463.3(ATP6V0A2):c.-400G>C
|
rs115017792
|
0.05038
|
NM_012463.4(ATP6V0A2):c.432+230C>T
|
rs59540041
|
0.04800
|
NM_012463.4(ATP6V0A2):c.522-49A>G
|
rs7962913
|
0.04773
|
NM_012463.4(ATP6V0A2):c.196+235G>A
|
rs113239274
|
0.04730
|
NM_012463.3(ATP6V0A2):c.-407A>T
|
rs111323913
|
0.04400
|
NM_012463.4(ATP6V0A2):c.433-117T>C
|
rs74783839
|
0.04318
|
NM_012463.4(ATP6V0A2):c.1606-301G>A
|
rs11836898
|
0.02575
|
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)
|
rs17883456
|
0.02527
|
NM_012463.3(ATP6V0A2):c.-511T>A
|
rs767739299
|
0.02519
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_012463.4(ATP6V0A2):c.522-284G>C
|
rs145118736
|
0.02316
|
NM_012463.4(ATP6V0A2):c.522-159T>C
|
rs77181570
|
0.02312
|
NM_012463.4(ATP6V0A2):c.295-190G>A
|
rs149640118
|
0.02279
|
NM_012463.4(ATP6V0A2):c.521+40C>T
|
rs111865336
|
0.02008
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_012463.4(ATP6V0A2):c.433-170A>G
|
rs76993617
|
0.01664
|
NM_012463.4(ATP6V0A2):c.1190-123C>T
|
rs77220701
|
0.01575
|
NM_012463.4(ATP6V0A2):c.295-265G>A
|
rs113418391
|
0.01537
|
NM_012463.4(ATP6V0A2):c.118-73G>A
|
rs114594614
|
0.01368
|
NM_012463.4(ATP6V0A2):c.1039-14T>C
|
rs115569365
|
0.01308
|
NM_012463.4(ATP6V0A2):c.1039-94C>A
|
rs76451484
|
0.01168
|
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)
|
rs75279884
|
0.01166
|
NM_012463.4(ATP6V0A2):c.1190-115T>C
|
rs112570022
|
0.01148
|
NM_012463.4(ATP6V0A2):c.1606-12G>A
|
rs112415338
|
0.01148
|
NM_012463.4(ATP6V0A2):c.732-247C>T
|
rs112784463
|
0.01085
|
NM_012463.4(ATP6V0A2):c.1039-32T>A
|
rs117654599
|
0.00964
|
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=)
|
rs73420336
|
0.00931
|
NC_000012.12:g.123712122T>C
|
rs115697861
|
0.00847
|
NM_012463.4(ATP6V0A2):c.649-36G>A
|
rs143993135
|
0.00750
|
NM_012463.4(ATP6V0A2):c.522-306G>T
|
rs149952976
|
0.00741
|
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)
|
rs7969410
|
0.00727
|
NM_012463.4(ATP6V0A2):c.*191T>C
|
rs150408179
|
0.00628
|
NM_012463.4(ATP6V0A2):c.197-263T>C
|
rs146464642
|
0.00617
|
NM_012463.4(ATP6V0A2):c.1936-147C>T
|
rs80175450
|
0.00604
|
NM_012463.4(ATP6V0A2):c.826-217T>C
|
rs74713525
|
0.00575
|
NM_012463.4(ATP6V0A2):c.2055+166C>G
|
rs111986323
|
0.00524
|
NM_012463.4(ATP6V0A2):c.1039-127A>C
|
rs560210864
|
0.00463
|
NM_012463.4(ATP6V0A2):c.433-60C>T
|
rs139844022
|
0.00461
|
NM_012463.4(ATP6V0A2):c.197-283A>G
|
rs149902738
|
0.00414
|
NM_012463.4(ATP6V0A2):c.732-102G>A
|
rs115568485
|
0.00407
|
NM_012463.4(ATP6V0A2):c.1039-303C>T
|
rs113438472
|
0.00383
|
NM_012463.4(ATP6V0A2):c.117+81G>T
|
rs571330835
|
0.00379
|
NM_012463.4(ATP6V0A2):c.2175+267G>A
|
rs189134797
|
0.00372
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_012463.4(ATP6V0A2):c.1039-12T>C
|
rs190537134
|
0.00128
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_012463.4(ATP6V0A2):c.1189+12G>T
|
rs377235629
|
0.00085
|
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)
|
rs146967928
|
0.00078
|
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)
|
rs80355657
|
0.00078
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)
|
rs147641581
|
0.00047
|
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00045
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00037
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)
|
rs146156426
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1327-16G>A
|
rs149092701
|
0.00033
|
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln)
|
rs141310219
|
0.00030
|
NM_012463.4(ATP6V0A2):c.1936-7C>T
|
rs370135665
|
0.00028
|
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)
|
rs144499089
|
0.00026
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=)
|
rs138172178
|
0.00021
|
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)
|
rs367950442
|
0.00021
|
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)
|
rs140835376
|
0.00021
|
NM_012463.4(ATP6V0A2):c.1039-13G>T
|
rs375793162
|
0.00019
|
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)
|
rs763991801
|
0.00014
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys)
|
rs200463200
|
0.00011
|
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)
|
rs201694504
|
0.00011
|
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=)
|
rs139680786
|
0.00010
|
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)
|
rs752306671
|
0.00010
|
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)
|
rs201271558
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)
|
rs182439983
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)
|
rs2271659
|
0.00008
|
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=)
|
rs149439834
|
0.00008
|
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=)
|
rs142041624
|
0.00008
|
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln)
|
rs377561982
|
0.00008
|
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys)
|
rs778381327
|
0.00007
|
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)
|
rs758922111
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)
|
rs762614200
|
0.00006
|
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)
|
rs199801221
|
0.00005
|
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=)
|
rs373419502
|
0.00005
|
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)
|
rs771839087
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=)
|
rs775345155
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)
|
rs371908109
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)
|
rs941238473
|
0.00004
|
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)
|
rs142935490
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)
|
rs781305219
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)
|
rs372416067
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=)
|
rs759980365
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=)
|
rs149123235
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=)
|
rs753589480
|
0.00003
|
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)
|
rs747354658
|
0.00003
|
NM_012463.4(ATP6V0A2):c.521+14C>T
|
rs747194853
|
0.00003
|
NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp)
|
rs940128206
|
0.00003
|
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys)
|
rs759593402
|
0.00003
|
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)
|
rs774118423
|
0.00003
|
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu)
|
rs772170459
|
0.00003
|
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)
|
rs367873118
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys)
|
rs370299179
|
0.00002
|
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly)
|
rs760212304
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)
|
rs144946016
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=)
|
rs759226841
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)
|
rs754014350
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2558A>G (p.Asp853Gly)
|
rs767971908
|
0.00002
|
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu)
|
rs772179448
|
0.00002
|
NM_012463.4(ATP6V0A2):c.521+17G>A
|
rs192339944
|
0.00002
|
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys)
|
rs368924297
|
0.00002
|
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)
|
rs1381866878
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)
|
rs567406924
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1724+20T>A
|
rs778282853
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)
|
rs374410950
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
|
rs777130500
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu)
|
rs751698448
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=)
|
rs775830030
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu)
|
rs769901746
|
0.00001
|
NM_012463.4(ATP6V0A2):c.432+12C>T
|
rs535259667
|
0.00001
|
NM_012463.4(ATP6V0A2):c.576G>T (p.Leu192Phe)
|
rs780455437
|
0.00001
|
NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met)
|
rs776619252
|
0.00001
|
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)
|
rs369952560
|
0.00001
|
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=)
|
rs754399086
|
0.00001
|
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His)
|
rs1295585374
|
0.00001
|
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg)
|
rs946611542
|
0.00001
|
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=)
|
rs776563027
|
0.00001
|
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr)
|
rs775855556
|
0.00001
|
NC_000012.12:g.123712055AC[6]
|
rs1188328972
|
|
NC_000012.12:g.123712055AC[8]
|
rs1188328972
|
|
NC_000012.12:g.123712057AC[11]
|
rs761076797
|
|
NC_000012.12:g.123712057AC[7]
|
rs761076797
|
|
NC_000012.12:g.123712057AC[9]
|
rs761076797
|
|
NC_000012.12:g.123712061AC[5]
|
rs1344327382
|
|
NC_000012.12:g.123712061AC[6]
|
rs1344327382
|
|
NC_000012.12:g.123712061AC[7]
|
rs1344327382
|
|
NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1]
|
rs1555295148
|
|
NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1]
|
rs1246294062
|
|
NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1]
|
rs1246294062
|
|
NM_012463.4(ATP6V0A2):c.1039-110A>C
|
rs113442258
|
|
NM_012463.4(ATP6V0A2):c.1039-123del
|
rs10715944
|
|
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)
|
rs1171365721
|
|
NM_012463.4(ATP6V0A2):c.1249C>T (p.His417Tyr)
|
rs2135909683
|
|
NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1355A>C (p.Tyr452Ser)
|
rs1956641918
|
|
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)
|
rs911881776
|
|
NM_012463.4(ATP6V0A2):c.1420A>G (p.Lys474Glu)
|
rs2135910171
|
|
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)
|
rs532258057
|
|
NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.1515-3_1515-2del
|
rs2135910474
|
|
NM_012463.4(ATP6V0A2):c.1724+20del
|
rs375845531
|
|
NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs)
|
rs2135879752
|
|
NM_012463.4(ATP6V0A2):c.196+15T>G
|
rs1404046246
|
|
NM_012463.4(ATP6V0A2):c.196+173dup
|
rs143201160
|
|
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu)
|
rs1555299234
|
|
NM_012463.4(ATP6V0A2):c.2056-14C>G
|
rs375232199
|
|
NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=)
|
rs962207534
|
|
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val)
|
rs886049062
|
|
NM_012463.4(ATP6V0A2):c.2293+168_2293+171del
|
rs145776710
|
|
NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser)
|
rs765645222
|
|
NM_012463.4(ATP6V0A2):c.2466-3dup
|
rs370511382
|
|
NM_012463.4(ATP6V0A2):c.2466-73dup
|
rs530511817
|
|
NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=)
|
rs535703391
|
|
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.295-112del
|
rs796749108
|
|
NM_012463.4(ATP6V0A2):c.295-112dup
|
rs796749108
|
|
NM_012463.4(ATP6V0A2):c.295-17C>A
|
rs1555296412
|
|
NM_012463.4(ATP6V0A2):c.295-276del
|
rs11326601
|
|
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.432+251T>C
|
rs192821655
|
|
NM_012463.4(ATP6V0A2):c.521+14C>G
|
rs747194853
|
|
NM_012463.4(ATP6V0A2):c.522-13del
|
rs140638516
|
|
NM_012463.4(ATP6V0A2):c.732-23T>C
|
rs2271660
|
|
NM_012463.4(ATP6V0A2):c.732-23T>G
|
rs2271660
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.732-3C>T
|
rs1371899202
|
|
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)
|
rs199578524
|
|
NM_012463.4(ATP6V0A2):c.825+183A>C
|
rs2333838
|
|
NM_012463.4(ATP6V0A2):c.826-89GA[3]
|
|
|
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
|
rs139680786
|
|
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)
|
rs371533517
|
|