ClinVar Miner

List of variants in gene ATP6V0A2

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Gene type:
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Total variants: 586
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HGVS dbSNP gnomAD frequency
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) rs759593402
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) rs767516975
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
NM_012463.4(ATP6V0A2):c.731+12A>G
NM_012463.4(ATP6V0A2):c.731+16A>G
NM_012463.4(ATP6V0A2):c.731+6A>G
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.744C>T (p.His248=)
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) rs199578524
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.803C>G (p.Thr268Ser)
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
NM_012463.4(ATP6V0A2):c.825+183A>C rs2333838
NM_012463.4(ATP6V0A2):c.825+2T>C rs398124257
NM_012463.4(ATP6V0A2):c.826-14T>G rs2135901661
NM_012463.4(ATP6V0A2):c.826-15G>A
NM_012463.4(ATP6V0A2):c.826-18C>G
NM_012463.4(ATP6V0A2):c.826-20C>T
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.826-89GA[3]
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu) rs759906846
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) rs2135901865
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_012463.4(ATP6V0A2):c.979G>C (p.Glu327Gln)
NM_012463.4(ATP6V0A2):c.987G>A (p.Trp329Ter) rs376626151
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)

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