NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)
|
rs147641581
|
0.00047
|
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_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln)
|
rs141310219
|
0.00030
|
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_024740.2(ALG9):c.1489A>G (p.Ile497Val)
|
rs138584071
|
0.00025
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
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.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys)
|
rs200463200
|
0.00011
|
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)
|
rs752306671
|
0.00010
|
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)
|
rs201271558
|
0.00009
|
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)
|
rs758214692
|
0.00009
|
NM_024740.2(ALG9):c.129C>T (p.Thr43=)
|
rs1311317470
|
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.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.26C>T (p.Thr9Ile)
|
rs752689489
|
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_024740.2(ALG9):c.128C>T (p.Thr43Ile)
|
rs1377024435
|
0.00004
|
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.2554G>A (p.Asp852Asn)
|
rs774594773
|
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.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_024740.2(ALG9):c.1660C>T (p.Arg554Trp)
|
rs782084496
|
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.2072T>C (p.Ile691Thr)
|
rs144946016
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)
|
rs754014350
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)
|
rs774276857
|
0.00002
|
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu)
|
rs772179448
|
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.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.1247G>A (p.Gly416Glu)
|
rs770611939
|
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.1468A>G (p.Ser490Gly)
|
rs761024266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu)
|
rs942181771
|
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.2335C>G (p.Leu779Val)
|
rs1289485537
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys)
|
rs1300082047
|
0.00001
|
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)
|
rs1247351393
|
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.818T>G (p.Leu273Arg)
|
rs946611542
|
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.1166C>T (p.Ala389Val)
|
rs1555122792
|
0.00001
|
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val)
|
rs782350313
|
0.00001
|
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys)
|
rs782251524
|
0.00001
|
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.1038G>T (p.Ser346=)
|
rs147411055
|
|
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.1157A>G (p.Tyr386Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
|
|
|
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)
|
rs911881776
|
|
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val)
|
rs753076012
|
|
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)
|
rs532258057
|
|
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
|
|
|
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
|
|
|
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
|
|
|
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val)
|
rs2135913589
|
|
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
|
|
|
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln)
|
rs2135870876
|
|
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys)
|
rs2135914600
|
|
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.197-16A>G
|
|
|
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
|
|
|
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
|
|
|
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.2055+4A>C
|
rs2135917390
|
|
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
|
|
|
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
|
|
|
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.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.382T>C (p.Tyr128His)
|
|
|
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.426_427inv (p.Val143Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)
|
rs759593402
|
|
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
|
|
|
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.731+6A>G
|
|
|
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu)
|
rs759906846
|
|
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)
|
rs371533517
|
|
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
|
|
|
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
|
|
|
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
|
|
|
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
|
|
|
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
|
|
|
NM_024740.2(ALG9):c.1174-19T>G
|
|
|
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.131+5G>A
|
rs567032424
|
|
NM_024740.2(ALG9):c.131+5G>T
|
rs567032424
|
|
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
|
|
|
NM_024740.2(ALG9):c.1324+6T>G
|
|
|
NM_024740.2(ALG9):c.1325-17A>G
|
|
|
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
|
|
|
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
|
|
|
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.1431A>G (p.Lys477=)
|
|
|
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
|
|
|
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
|
|
|
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
|
|
|
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
|
|
|
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
|
|
|
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
|
|
|
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.279C>T (p.Tyr93=)
|
|
|
NM_024740.2(ALG9):c.360T>C (p.His120=)
|
|
|
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
|
|
|
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.739A>G (p.Arg247Gly)
|
|
|
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
|
|
|
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
|
|
|
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
|
|
|
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
|
|