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.*1693C>G
|
rs10846553
|
0.70431
|
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.*1128T>C
|
rs10744162
|
0.53964
|
NM_012463.4(ATP6V0A2):c.*3425G>A
|
rs2333834
|
0.52752
|
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.*3553G>A
|
rs73420351
|
0.09739
|
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.*3603G>A
|
rs73420352
|
0.05364
|
NM_012463.4(ATP6V0A2):c.2055+252C>T
|
rs7973463
|
0.05355
|
NM_012463.4(ATP6V0A2):c.*574C>T
|
rs112521789
|
0.05337
|
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.*3227C>G
|
rs111540619
|
0.04290
|
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.*1600G>A
|
rs58028686
|
0.02320
|
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.*2877T>A
|
rs77765053
|
0.02183
|
NM_012463.4(ATP6V0A2):c.*2357C>T
|
rs117222175
|
0.02177
|
NM_012463.4(ATP6V0A2):c.*3235A>G
|
rs7310965
|
0.02017
|
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.*1205C>G
|
rs6488903
|
0.01582
|
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.*2646A>G
|
rs77292614
|
0.01186
|
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.*3654A>G
|
rs77670478
|
0.01086
|
NM_012463.4(ATP6V0A2):c.732-247C>T
|
rs112784463
|
0.01085
|
NM_012463.4(ATP6V0A2):c.*1731C>T
|
rs114514797
|
0.01081
|
NM_012463.4(ATP6V0A2):c.*2329G>A
|
rs113118376
|
0.01080
|
NM_012463.4(ATP6V0A2):c.1039-32T>A
|
rs117654599
|
0.00964
|
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=)
|
rs73420336
|
0.00931
|
NM_012463.4(ATP6V0A2):c.*2875A>C
|
rs149741581
|
0.00851
|
NC_000012.12:g.123712122T>C
|
rs115697861
|
0.00847
|
NM_012463.4(ATP6V0A2):c.*1645G>A
|
rs74994957
|
0.00766
|
NM_012463.4(ATP6V0A2):c.*1064G>A
|
rs7980215
|
0.00751
|
NM_012463.4(ATP6V0A2):c.649-36G>A
|
rs143993135
|
0.00750
|
NM_012463.4(ATP6V0A2):c.*1837T>C
|
rs115183932
|
0.00749
|
NM_012463.4(ATP6V0A2):c.*3357G>C
|
rs7297473
|
0.00748
|
NM_012463.4(ATP6V0A2):c.*2710G>A
|
rs145999411
|
0.00742
|
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.*3000G>A
|
rs183891010
|
0.00622
|
NM_012463.4(ATP6V0A2):c.197-263T>C
|
rs146464642
|
0.00617
|
NM_012463.4(ATP6V0A2):c.*3665T>G
|
rs2651
|
0.00616
|
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.*2876A>T
|
rs191476665
|
0.00418
|
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.*998T>C
|
rs12298446
|
0.00401
|
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.*785T>C
|
rs146660715
|
0.00262
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_012463.4(ATP6V0A2):c.*2618A>G
|
rs193208741
|
0.00155
|
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.*2929C>G
|
rs145602576
|
0.00111
|
NM_012463.4(ATP6V0A2):c.*1681G>A
|
rs575925916
|
0.00089
|
NM_012463.4(ATP6V0A2):c.*577C>T
|
rs577796265
|
0.00089
|
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.*1122A>G
|
rs3827881
|
0.00064
|
NM_012463.4(ATP6V0A2):c.*1599C>T
|
rs534414817
|
0.00059
|
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.*2759T>C
|
rs550259483
|
0.00038
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00037
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
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.*2198C>T
|
rs886049073
|
0.00026
|
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.*1803C>T
|
rs117646592
|
0.00024
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
NM_012463.4(ATP6V0A2):c.*271A>G
|
rs886049064
|
0.00021
|
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.1430A>T (p.Asn477Ile)
|
rs532258057
|
0.00019
|
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)
|
rs763991801
|
0.00014
|
NM_012463.4(ATP6V0A2):c.*2833A>T
|
rs117111955
|
0.00013
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_012463.4(ATP6V0A2):c.*3159G>A
|
rs539564846
|
0.00012
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_012463.4(ATP6V0A2):c.*3166C>T
|
rs777687879
|
0.00011
|
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.2505C>G (p.Thr835=)
|
rs535703391
|
0.00011
|
NM_012463.4(ATP6V0A2):c.*1454A>G
|
rs3748272
|
0.00010
|
NM_012463.4(ATP6V0A2):c.*3505A>G
|
rs868846588
|
0.00010
|
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.*3042T>G
|
rs886049076
|
0.00009
|
NM_012463.4(ATP6V0A2):c.*742G>A
|
rs964496583
|
0.00009
|
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.1665C>T (p.Ser555=)
|
rs373155729
|
0.00009
|
NM_012463.4(ATP6V0A2):c.197-4A>G
|
rs541441279
|
0.00009
|
NM_012463.4(ATP6V0A2):c.*2454T>C
|
rs776825961
|
0.00008
|
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.*1252A>G
|
rs141136421
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*1799A>C
|
rs755729836
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*2485C>T
|
rs144043973
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)
|
rs768141782
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)
|
rs199698721
|
0.00006
|
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.603C>T (p.Ile201=)
|
rs181112338
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*643C>T
|
rs377386130
|
0.00005
|
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.*1828C>G
|
rs886049068
|
0.00004
|
NM_012463.4(ATP6V0A2):c.*709C>T
|
rs547048918
|
0.00004
|
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.2033G>A (p.Arg678His)
|
rs761913726
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val)
|
rs766224435
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)
|
rs941238473
|
0.00004
|
NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=)
|
rs369978210
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)
|
rs200933894
|
0.00004
|
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu)
|
rs551494374
|
0.00004
|
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
|
rs563333869
|
0.00004
|
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile)
|
rs780788821
|
0.00004
|
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)
|
rs142935490
|
0.00004
|
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)
|
rs201247720
|
0.00004
|
NM_012463.4(ATP6V0A2):c.*2090C>T
|
rs772018611
|
0.00003
|
NM_012463.4(ATP6V0A2):c.*3269A>G
|
rs567165258
|
0.00003
|
NM_012463.4(ATP6V0A2):c.*575G>A
|
rs996318859
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)
|
rs917452697
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)
|
rs781305219
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=)
|
rs147411055
|
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.1515-12T>G
|
rs201512900
|
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.234C>T (p.Pro78=)
|
rs375372808
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)
|
rs774594773
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=)
|
rs762290613
|
0.00003
|
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val)
|
rs199633614
|
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.621G>A (p.Leu207=)
|
rs374338507
|
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.*1680C>T
|
rs886049067
|
0.00002
|
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.2028T>G (p.Asn676Lys)
|
rs763022700
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=)
|
rs202084330
|
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.2250C>T (p.Thr750=)
|
rs759193879
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=)
|
rs1308437998
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)
|
rs754014350
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=)
|
rs1337898685
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)
|
rs774276857
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)
|
rs571286312
|
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.482T>G (p.Leu161Trp)
|
rs750042310
|
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.892C>T (p.Arg298Cys)
|
rs1217674662
|
0.00002
|
NM_012463.4(ATP6V0A2):c.*2039C>G
|
rs886049069
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*2085C>G
|
rs185883563
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*3262G>A
|
rs1593929112
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*3684C>T
|
rs1051636200
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*3707A>G
|
rs1203316393
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*434T>A
|
rs886049065
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*706T>G
|
rs1288578795
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1038+19C>T
|
rs748475567
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)
|
rs374873455
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala)
|
rs147833091
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu)
|
rs201857139
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)
|
rs1381866878
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=)
|
rs751710968
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1164C>T (p.Val388=)
|
rs757645572
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu)
|
rs750788949
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu)
|
rs770611939
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)
|
rs985944979
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)
|
rs907470146
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met)
|
rs1555298476
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val)
|
rs1193899105
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)
|
rs567406924
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly)
|
rs761024266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu)
|
rs1240866102
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1605+13C>T
|
rs1031913267
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1724+20T>A
|
rs778282853
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)
|
rs374410950
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys)
|
rs148307049
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg)
|
rs766998428
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
|
rs777130500
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2176-5C>G
|
rs201910056
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu)
|
rs751698448
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293+1G>A
|
rs750984566
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-6T>C
|
rs756082099
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val)
|
rs1289485537
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys)
|
rs768609186
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys)
|
rs1300082047
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=)
|
rs199720540
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=)
|
rs1390474120
|
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.2547C>A (p.Phe849Leu)
|
rs775425809
|
0.00001
|
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)
|
rs1247351393
|
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.745G>A (p.Val249Met)
|
rs879082266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)
|
rs369952560
|
0.00001
|
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu)
|
rs571403150
|
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.819C>G (p.Leu273=)
|
rs760832828
|
0.00001
|
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=)
|
rs776563027
|
0.00001
|
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys)
|
rs753314616
|
0.00001
|
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr)
|
rs775855556
|
0.00001
|
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)
|
rs773660973
|
0.00001
|
ATP6V0A2, 1-BP INS, 100A
|
|
|
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.*115C>T
|
rs367543009
|
|
NM_012463.4(ATP6V0A2):c.*1620T>A
|
rs189881056
|
|
NM_012463.4(ATP6V0A2):c.*1950G>A
|
rs1956794312
|
|
NM_012463.4(ATP6V0A2):c.*2128_*2129del
|
rs150303181
|
|
NM_012463.4(ATP6V0A2):c.*2161C>G
|
rs886049071
|
|
NM_012463.4(ATP6V0A2):c.*2186_*2189del
|
rs772714418
|
|
NM_012463.4(ATP6V0A2):c.*2344_*2346dup
|
rs886049074
|
|
NM_012463.4(ATP6V0A2):c.*2353G>T
|
rs74386589
|
|
NM_012463.4(ATP6V0A2):c.*2771A>G
|
rs1026356999
|
|
NM_012463.4(ATP6V0A2):c.*2782C>A
|
rs183280767
|
|
NM_012463.4(ATP6V0A2):c.*2984_*2986del
|
rs886049075
|
|
NM_012463.4(ATP6V0A2):c.*3167G>A
|
rs112529654
|
|
NM_012463.4(ATP6V0A2):c.*3368T>G
|
rs1956822109
|
|
NM_012463.4(ATP6V0A2):c.*564T>C
|
rs886049066
|
|
NM_012463.4(ATP6V0A2):c.*60dup
|
rs747772644
|
|
NM_012463.4(ATP6V0A2):c.*63C>T
|
rs576086591
|
|
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)
|
rs1956563926
|
|
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu)
|
rs1956564188
|
|
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
|
|
|
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=)
|
rs147411055
|
|
NM_012463.4(ATP6V0A2):c.1039-110A>C
|
rs113442258
|
|
NM_012463.4(ATP6V0A2):c.1039-123del
|
rs10715944
|
|
NM_012463.4(ATP6V0A2):c.1039-13G>A
|
rs375793162
|
|
NM_012463.4(ATP6V0A2):c.1039-15T>C
|
|
|
NM_012463.4(ATP6V0A2):c.1039-1G>A
|
|
|
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)
|
rs958086368
|
|
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=)
|
rs1593910063
|
|
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr)
|
rs753742915
|
|
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1084A>G (p.Thr362Ala)
|
|
|
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile)
|
rs779001204
|
|
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
|
|
|
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
|
|
|
NM_012463.4(ATP6V0A2):c.1147G>A (p.Val383Met)
|
rs1555298342
|
|
NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=)
|
|
|
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg)
|
rs1956634532
|
|
NM_012463.4(ATP6V0A2):c.118-13A>G
|
|
|
NM_012463.4(ATP6V0A2):c.118-1G>T
|
rs2135879573
|
|
NM_012463.4(ATP6V0A2):c.118-4T>C
|
|
|
NM_012463.4(ATP6V0A2):c.118-6del
|
|
|
NM_012463.4(ATP6V0A2):c.118-9T>G
|
|
|
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)
|
|
|
NM_012463.4(ATP6V0A2):c.1190-7dup
|
|
|
NM_012463.4(ATP6V0A2):c.1214del (p.Pro405fs)
|
rs2135909614
|
|
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)
|
rs1171365721
|
|
NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=)
|
|
|
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
|
|
|
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
|
|
|
NM_012463.4(ATP6V0A2):c.1249C>T (p.His417Tyr)
|
rs2135909683
|
|
NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
|
|
|
NM_012463.4(ATP6V0A2):c.1300C>A (p.His434Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
|
|
|
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)
|
rs80356755
|
|
NM_012463.4(ATP6V0A2):c.1326+7A>C
|
|
|
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup
|
rs1593910803
|
|
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
|
|
|
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.1362C>T (p.Leu454=)
|
|
|
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val)
|
rs753076012
|
|
NM_012463.4(ATP6V0A2):c.1403A>G (p.Tyr468Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
|
|
|
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
|
|
|
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.1437C>T (p.Phe479=)
|
|
|
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
|
|
|
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
|
|
|
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
|
|
|
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
|
|
|
NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
|
|
|
NM_012463.4(ATP6V0A2):c.1515-3_1515-2del
|
rs2135910474
|
|
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
|
|
|
NM_012463.4(ATP6V0A2):c.1515-9T>C
|
|
|
NM_012463.4(ATP6V0A2):c.1515-9T>G
|
|
|
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.1558A>T (p.Ser520Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.1577G>A (p.Arg526Gln)
|
rs757432786
|
|
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1605+10C>T
|
|
|
NM_012463.4(ATP6V0A2):c.1605+16T>G
|
rs532950608
|
|
NM_012463.4(ATP6V0A2):c.1605+1G>A
|
rs1956646992
|
|
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
|
|
|
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
|
|
|
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
|
|
|
NM_012463.4(ATP6V0A2):c.1661T>C (p.Met554Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
|
|
|
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)
|
rs139454557
|
|
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
|
|
|
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
|
|
|
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
|
|
|
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=)
|
rs2135913544
|
|
NM_012463.4(ATP6V0A2):c.170G>C (p.Arg57Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val)
|
rs2135913589
|
|
NM_012463.4(ATP6V0A2):c.1724+11A>T
|
|
|
NM_012463.4(ATP6V0A2):c.1724+20del
|
rs375845531
|
|
NM_012463.4(ATP6V0A2):c.1724+20dup
|
|
|
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
|
|
|
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs)
|
rs2135879752
|
|
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
|
|
|
NM_012463.4(ATP6V0A2):c.196+15T>G
|
rs1404046246
|
|
NM_012463.4(ATP6V0A2):c.196+173dup
|
rs143201160
|
|
NM_012463.4(ATP6V0A2):c.196+8T>A
|
|
|
NM_012463.4(ATP6V0A2):c.197-14T>A
|
|
|
NM_012463.4(ATP6V0A2):c.197-16A>G
|
|
|
NM_012463.4(ATP6V0A2):c.1981C>G (p.Pro661Ala)
|
|
|
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
|
|
|
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu)
|
rs1555299234
|
|
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
|
|
|
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
|
|
|
NM_012463.4(ATP6V0A2):c.2055+4A>C
|
rs2135917390
|
|
NM_012463.4(ATP6V0A2):c.2055+8C>T
|
|
|
NM_012463.4(ATP6V0A2):c.2055+9G>A
|
|
|
NM_012463.4(ATP6V0A2):c.2056-10T>C
|
|
|
NM_012463.4(ATP6V0A2):c.2056-14C>G
|
rs375232199
|
|
NM_012463.4(ATP6V0A2):c.2056-14C>T
|
|
|
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
|
|
|
NM_012463.4(ATP6V0A2):c.2056-20T>C
|
|
|
NM_012463.4(ATP6V0A2):c.2056-2A>G
|
|
|
NM_012463.4(ATP6V0A2):c.2056-2dup
|
|
|
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
|
|
|
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
|
|
|
NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=)
|
rs962207534
|
|
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
|
|
|
NM_012463.4(ATP6V0A2):c.2176-10TC[2]
|
rs1593920665
|
|
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del
|
rs367543007
|
|
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)
|
rs2135920743
|
|
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=)
|
rs770098416
|
|
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
|
|
|
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp)
|
rs780465961
|
|
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
|
|
|
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)
|
rs1220385043
|
|
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
|
|
|
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
|
|
|
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val)
|
rs886049062
|
|
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
|
|
|
NM_012463.4(ATP6V0A2):c.2293+168_2293+171del
|
rs145776710
|
|
NM_012463.4(ATP6V0A2):c.2294-12A>G
|
|
|
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)
|
rs367543008
|
|
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
|
|
|
NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro)
|
rs1956768742
|
|
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
|
|
|
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
|
|
|
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
|
|
|
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)
|
rs1566294545
|
|
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
|
|
|
NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser)
|
rs765645222
|
|
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
|
|
|
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)
|
|
|
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=)
|
rs1414004996
|
|
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)
|
rs2135923855
|
|
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
|
|
|
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2465+20T>C
|
|
|
NM_012463.4(ATP6V0A2):c.2466-10T>G
|
|
|
NM_012463.4(ATP6V0A2):c.2466-16C>G
|
|
|
NM_012463.4(ATP6V0A2):c.2466-16C>T
|
|
|
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3del
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3dup
|
rs370511382
|
|
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del
|
rs370511382
|
|
NM_012463.4(ATP6V0A2):c.2466-73dup
|
rs530511817
|
|
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
|
|
|
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
|
|
|
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2501G>A (p.Gly834Asp)
|
|
|
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=)
|
rs1451115150
|
|
NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=)
|
rs535703391
|
|
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.2533C>T (p.Leu845Phe)
|
|
|
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
|
|
|
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
|
|
|
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=)
|
rs1032324166
|
|
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.294+16C>A
|
|
|
NM_012463.4(ATP6V0A2):c.294+16C>T
|
|
|
NM_012463.4(ATP6V0A2):c.294+17G>A
|
|
|
NM_012463.4(ATP6V0A2):c.294+18A>G
|
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
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.302T>A (p.Leu101Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter)
|
rs794727643
|
|
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
|
|
|
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
|
|
|
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
|
|
|
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
|
rs80356752
|
|
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
|
|
|
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
|
|
|
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
|
|
|
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
|
|
|
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala)
|
rs1319344210
|
|
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
|
|
|
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.426_427inv (p.Val143Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.432+251T>C
|
rs192821655
|
|
NM_012463.4(ATP6V0A2):c.433-5T>C
|
|
|
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
|
|
|
NM_012463.4(ATP6V0A2):c.472G>A (p.Asp158Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
|
|
|
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
|
|
|
NM_012463.4(ATP6V0A2):c.521+14C>G
|
rs747194853
|
|
NM_012463.4(ATP6V0A2):c.522-13del
|
rs140638516
|
|
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
|
|
|
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)
|
rs1956462432
|
|
NM_012463.4(ATP6V0A2):c.548G>A (p.Gly183Glu)
|
rs1555296748
|
|
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
|
|
|
NM_012463.4(ATP6V0A2):c.648+13C>T
|
|
|
NM_012463.4(ATP6V0A2):c.649-15A>G
|
|
|
NM_012463.4(ATP6V0A2):c.649-20T>C
|
|
|
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)
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rs759593402
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NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
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NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
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NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
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NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=)
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rs767516975
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NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
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NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
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NM_012463.4(ATP6V0A2):c.731+12A>G
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NM_012463.4(ATP6V0A2):c.731+16A>G
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NM_012463.4(ATP6V0A2):c.731+6A>G
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NM_012463.4(ATP6V0A2):c.732-23T>C
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rs2271660
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NM_012463.4(ATP6V0A2):c.732-23T>G
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rs2271660
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NM_012463.4(ATP6V0A2):c.732-2A>G
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rs80356753
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NM_012463.4(ATP6V0A2):c.732-3C>T
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rs1371899202
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NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
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NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
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NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
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NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)
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rs199578524
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NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met)
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rs1956545181
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NM_012463.4(ATP6V0A2):c.803C>G (p.Thr268Ser)
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NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
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NM_012463.4(ATP6V0A2):c.825+183A>C
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rs2333838
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NM_012463.4(ATP6V0A2):c.825+2T>C
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rs398124257
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NM_012463.4(ATP6V0A2):c.826-14T>G
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rs2135901661
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NM_012463.4(ATP6V0A2):c.826-15G>A
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NM_012463.4(ATP6V0A2):c.826-18C>G
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NM_012463.4(ATP6V0A2):c.826-20C>T
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NM_012463.4(ATP6V0A2):c.826-5C>T
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rs1593903077
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NM_012463.4(ATP6V0A2):c.826-89GA[3]
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NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
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rs139680786
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NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)
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rs80356754
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NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
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NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
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NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu)
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rs759906846
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NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
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NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
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NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
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NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)
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rs371533517
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NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
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NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=)
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rs2135901865
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NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
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NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
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NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
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NM_012463.4(ATP6V0A2):c.979G>C (p.Glu327Gln)
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NM_012463.4(ATP6V0A2):c.987G>A (p.Trp329Ter)
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rs376626151
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NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)
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