ClinVar Miner

List of variants studied for ALG9 congenital disorder of glycosylation by Invitae

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ClinVar version:
Total variants: 526
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.111742146del rs10708475 1.00000
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
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.432+14C>T rs11837144 0.65907
NM_024740.2(ALG9):c.1602+10449A>G rs610437 0.63674
NM_024740.2(ALG9):c.132-12dup rs1555157381 0.46207
NM_024740.2(ALG9):c.865G>A (p.Val289Ile) rs10502151 0.28588
NM_024740.2(ALG9):c.406-7C>T rs45574638 0.02566
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_024740.2(ALG9):c.132-17T>G rs782169051 0.00984
NM_024740.2(ALG9):c.132-13T>G rs72994380 0.00979
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_024740.2(ALG9):c.1473-14T>C rs187507214 0.00657
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_024740.2(ALG9):c.132-16T>G rs781960988 0.00248
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_024740.2(ALG9):c.790-11C>T rs188241987 0.00152
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00128
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His) rs201194863 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_024740.2(ALG9):c.1762G>T (p.Val588Phe) rs150225347 0.00071
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_024740.2(ALG9):c.405+7G>A rs372345664 0.00053
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) rs147641581 0.00047
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
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.522-9G>A rs189175284 0.00036
NM_024740.2(ALG9):c.1332C>T (p.His444=) rs139516254 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.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263 0.00031
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_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val) rs138584071 0.00025
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 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.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_024740.2(ALG9):c.1356A>G (p.Glu452=) rs200460892 0.00015
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) rs763991801 0.00014
NM_012463.4(ATP6V0A2):c.117+19A>T rs746099453 0.00013
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_024740.2(ALG9):c.62C>T (p.Ala21Val) rs1298391733 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.1935+8A>G rs377650732 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_024740.2(ALG9):c.789+11T>G rs371939356 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.1665C>T (p.Ser555=) rs373155729 0.00009
NM_012463.4(ATP6V0A2):c.197-4A>G rs541441279 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 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_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470 0.00008
NM_024740.2(ALG9):c.132-18T>G rs528601164 0.00008
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) rs778381327 0.00007
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_024740.2(ALG9):c.1533A>G (p.Glu511=) rs377345625 0.00006
NM_024740.2(ALG9):c.765G>A (p.Ser255=) rs372338362 0.00006
NM_024740.2(ALG9):c.790-4T>C rs534732271 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_024740.2(ALG9):c.896-3C>T rs782063335 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.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.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_024740.2(ALG9):c.1038G>A (p.Pro346=) rs372262029 0.00004
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile) rs1377024435 0.00004
NM_024740.2(ALG9):c.246T>C (p.Asp82=) rs782243361 0.00004
NM_024740.2(ALG9):c.405+8C>A rs559793984 0.00004
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.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_024740.2(ALG9):c.1660C>T (p.Arg554Trp) rs782084496 0.00003
NM_024740.2(ALG9):c.477-15T>C rs782507133 0.00003
NM_024740.2(ALG9):c.504C>T (p.His168=) rs782753981 0.00003
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) rs370299179 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.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_024740.2(ALG9):c.188A>G (p.Lys63Arg) rs781991188 0.00002
NM_024740.2(ALG9):c.388A>G (p.Ile130Val) rs782298472 0.00002
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.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.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.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.1822A>G (p.Lys608Glu) rs942181771 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=) rs1274398806 0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950 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.2293+1G>A rs750984566 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val) rs1289485537 0.00001
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys) rs1300082047 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile) rs1247351393 0.00001
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) rs1485624455 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.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.997G>C (p.Ala333Pro) rs773660973 0.00001
NM_024740.2(ALG9):c.1134T>A (p.Leu378=) rs1375163899 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.1251G>A (p.Ser417=) rs782372397 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.132-15T>G rs782361758 0.00001
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val) rs782350313 0.00001
NM_024740.2(ALG9):c.1392T>A (p.Thr464=) rs1461283997 0.00001
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys) rs782251524 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NC_000011.9:g.(?_111657121)_(111922093_?)del
NC_000012.11:g.(?_124191253)_(124207015_?)dup
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.102G>T (p.Leu34=)
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=) rs147411055
NM_012463.4(ATP6V0A2):c.1039-13G>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.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.1157A>G (p.Tyr386Cys)
NM_012463.4(ATP6V0A2):c.117+10G>A
NM_012463.4(ATP6V0A2):c.117+13C>T
NM_012463.4(ATP6V0A2):c.117+18_117+19del rs772260989
NM_012463.4(ATP6V0A2):c.117+19A>G
NM_012463.4(ATP6V0A2):c.117+1del
NM_012463.4(ATP6V0A2):c.117+20C>G
NM_012463.4(ATP6V0A2):c.117+20_117+21insT
NM_012463.4(ATP6V0A2):c.117+7G>A
NM_012463.4(ATP6V0A2):c.117+9C>A
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.1215G>A (p.Pro405=) rs1171365721
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.1291A>G (p.Asn431Asp)
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
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.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.1407C>T (p.Asn469=)
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
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.1496AGA[1] (p.Lys500del)
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.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.1665C>G (p.Ser555=)
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.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.1725-10del
NM_012463.4(ATP6V0A2):c.1725-9C>T
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln) rs2135870876
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) rs1956686080
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys) rs2135914600
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) rs2135914630
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)
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.1953G>A (p.Val651=)
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.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.19A>G (p.Ser7Gly)
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
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.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.2151A>T (p.Gly717=)
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.2223G>A (p.Glu741=)
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
NM_012463.4(ATP6V0A2):c.2294-12A>G
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
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.2370G>C (p.Leu790=)
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
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.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.2502C>T (p.Gly834=) rs1451115150
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
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.302T>A (p.Leu101Ter)
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.34C>G (p.Leu12Val) rs1232267114
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.433-5T>C
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)
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.72G>A (p.Glu24=)
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.732-2A>G rs80356753
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.78C>G (p.Leu26=)
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)
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.840C>T (p.Thr280=) rs139680786
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.90C>G (p.Gly30=)
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.999G>A (p.Ala333=)
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
NM_024740.2(ALG9):c.1018+19G>A
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
NM_024740.2(ALG9):c.114C>G (p.Gly38=)
NM_024740.2(ALG9):c.1173+18G>A
NM_024740.2(ALG9):c.1174-19T>G
NM_024740.2(ALG9):c.1174-5A>T
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu) rs929508101
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
NM_024740.2(ALG9):c.131+10C>T
NM_024740.2(ALG9):c.131+1G>C
NM_024740.2(ALG9):c.131+5G>A rs567032424
NM_024740.2(ALG9):c.131+5G>T rs567032424
NM_024740.2(ALG9):c.131+7G>C
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
NM_024740.2(ALG9):c.132-13_132-12insTTG
NM_024740.2(ALG9):c.132-13del
NM_024740.2(ALG9):c.132-19T>G
NM_024740.2(ALG9):c.132-20T>G
NM_024740.2(ALG9):c.1320C>T (p.Phe440=)
NM_024740.2(ALG9):c.1324+10C>T
NM_024740.2(ALG9):c.1324+6T>G
NM_024740.2(ALG9):c.1325-17A>G
NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
NM_024740.2(ALG9):c.1377C>T (p.Asp459=) rs2136830008
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) rs782023699
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
NM_024740.2(ALG9):c.1733+19A>G
NM_024740.2(ALG9):c.1733+9C>T
NM_024740.2(ALG9):c.1734-15T>C
NM_024740.2(ALG9):c.1734-16dup
NM_024740.2(ALG9):c.1734-17del
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
NM_024740.2(ALG9):c.270+17G>C
NM_024740.2(ALG9):c.271-10G>A
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
NM_024740.2(ALG9):c.27C>T (p.Arg9=)
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
NM_024740.2(ALG9):c.360T>C (p.His120=)
NM_024740.2(ALG9):c.405+9A>T
NM_024740.2(ALG9):c.414G>A (p.Val138=)
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys) rs1555158969
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
NM_024740.2(ALG9):c.702-9_702-8del
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
NM_024740.2(ALG9):c.790-20T>C
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
NM_024740.2(ALG9):c.846C>T (p.Leu282=)
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
NM_024740.2(ALG9):c.896-2A>G
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn) rs1964247669
NM_024740.2(ALG9):c.992del (p.Met331fs) rs2136936118

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