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.521+40C>T
|
rs111865336
|
0.02008
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
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.1039-94C>A
|
rs76451484
|
0.01168
|
NM_012463.4(ATP6V0A2):c.1190-115T>C
|
rs112570022
|
0.01148
|
NM_012463.4(ATP6V0A2):c.732-247C>T
|
rs112784463
|
0.01085
|
NM_012463.4(ATP6V0A2):c.1039-32T>A
|
rs117654599
|
0.00964
|
NC_000012.12:g.123712122T>C
|
rs115697861
|
0.00847
|
NM_012463.4(ATP6V0A2):c.649-36G>A
|
rs143993135
|
0.00750
|
NM_012463.4(ATP6V0A2):c.522-306G>T
|
rs149952976
|
0.00741
|
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)
|
rs7969410
|
0.00727
|
NM_012463.4(ATP6V0A2):c.*191T>C
|
rs150408179
|
0.00628
|
NM_012463.4(ATP6V0A2):c.197-263T>C
|
rs146464642
|
0.00617
|
NM_012463.4(ATP6V0A2):c.1936-147C>T
|
rs80175450
|
0.00604
|
NM_012463.4(ATP6V0A2):c.826-217T>C
|
rs74713525
|
0.00575
|
NM_012463.4(ATP6V0A2):c.2055+166C>G
|
rs111986323
|
0.00524
|
NM_012463.4(ATP6V0A2):c.1039-127A>C
|
rs560210864
|
0.00463
|
NM_012463.4(ATP6V0A2):c.433-60C>T
|
rs139844022
|
0.00461
|
NM_012463.4(ATP6V0A2):c.197-283A>G
|
rs149902738
|
0.00414
|
NM_012463.4(ATP6V0A2):c.732-102G>A
|
rs115568485
|
0.00407
|
NM_012463.4(ATP6V0A2):c.*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.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_012463.4(ATP6V0A2):c.1039-12T>C
|
rs190537134
|
0.00128
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_012463.4(ATP6V0A2):c.1189+12G>T
|
rs377235629
|
0.00085
|
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)
|
rs146967928
|
0.00078
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
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_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.1936-7C>T
|
rs370135665
|
0.00028
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
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.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)
|
rs201694504
|
0.00011
|
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=)
|
rs139680786
|
0.00010
|
NM_012463.4(ATP6V0A2):c.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.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.*2485C>T
|
rs144043973
|
0.00006
|
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)
|
rs199801221
|
0.00005
|
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=)
|
rs373419502
|
0.00005
|
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)
|
rs771839087
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=)
|
rs775345155
|
0.00004
|
NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=)
|
rs369978210
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)
|
rs200933894
|
0.00004
|
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
|
rs563333869
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)
|
rs917452697
|
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.2556C>T (p.Asp852=)
|
rs762290613
|
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.993C>T (p.Pro331=)
|
rs367873118
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=)
|
rs202084330
|
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.2320C>T (p.Leu774=)
|
rs1337898685
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)
|
rs571286312
|
0.00002
|
NM_012463.4(ATP6V0A2):c.521+17G>A
|
rs192339944
|
0.00002
|
NM_012463.4(ATP6V0A2):c.*2085C>G
|
rs185883563
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1038+19C>T
|
rs748475567
|
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.1323A>G (p.Gln441=)
|
rs985944979
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)
|
rs567406924
|
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.2294-4G>A
|
rs551697992
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-6T>C
|
rs756082099
|
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.432+12C>T
|
rs535259667
|
0.00001
|
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=)
|
rs754399086
|
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
|
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.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.*2128_*2129del
|
rs150303181
|
|
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
|
|
|
NM_012463.4(ATP6V0A2):c.1039-110A>C
|
rs113442258
|
|
NM_012463.4(ATP6V0A2):c.1039-13G>A
|
rs375793162
|
|
NM_012463.4(ATP6V0A2):c.1039-15T>C
|
|
|
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=)
|
rs1593910063
|
|
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
|
|
|
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
|
|
|
NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=)
|
|
|
NM_012463.4(ATP6V0A2):c.118-13A>G
|
|
|
NM_012463.4(ATP6V0A2):c.118-4T>C
|
|
|
NM_012463.4(ATP6V0A2):c.118-9T>G
|
|
|
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)
|
rs1171365721
|
|
NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=)
|
|
|
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
|
|
|
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
|
|
|
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.1362C>T (p.Leu454=)
|
|
|
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
|
|
|
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
|
|
|
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.1491G>A (p.Glu497=)
|
|
|
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.1605+10C>T
|
|
|
NM_012463.4(ATP6V0A2):c.1605+16T>G
|
rs532950608
|
|
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
|
|
|
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
|
|
|
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
|
|
|
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.1724+11A>T
|
|
|
NM_012463.4(ATP6V0A2):c.1724+20del
|
rs375845531
|
|
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
|
|
|
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
|
|
|
NM_012463.4(ATP6V0A2):c.196+15T>G
|
rs1404046246
|
|
NM_012463.4(ATP6V0A2):c.196+8T>A
|
|
|
NM_012463.4(ATP6V0A2):c.197-14T>A
|
|
|
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
|
|
|
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
|
|
|
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.2067A>G (p.Thr689=)
|
|
|
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
|
|
|
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=)
|
rs962207534
|
|
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
|
|
|
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=)
|
rs770098416
|
|
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
|
|
|
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
|
|
|
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.2328C>T (p.Arg776=)
|
|
|
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
|
|
|
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
|
|
|
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
|
|
|
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
|
|
|
NM_012463.4(ATP6V0A2):c.2465+20T>C
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NM_012463.4(ATP6V0A2):c.2466-10T>G
|
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NM_012463.4(ATP6V0A2):c.2466-16C>G
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NM_012463.4(ATP6V0A2):c.2466-16C>T
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NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
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NM_012463.4(ATP6V0A2):c.2466-3dup
|
rs370511382
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NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
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NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
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NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
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NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=)
|
rs1032324166
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NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)
|
rs139785866
|
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NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=)
|
rs139785866
|
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NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
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NM_012463.4(ATP6V0A2):c.294+16C>A
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NM_012463.4(ATP6V0A2):c.294+16C>T
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NM_012463.4(ATP6V0A2):c.294+17G>A
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NM_012463.4(ATP6V0A2):c.294+18A>G
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NM_012463.4(ATP6V0A2):c.295-112del
|
rs796749108
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NM_012463.4(ATP6V0A2):c.295-17C>A
|
rs1555296412
|
|
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
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NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
|
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NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
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|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
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NM_012463.4(ATP6V0A2):c.432+251T>C
|
rs192821655
|
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NM_012463.4(ATP6V0A2):c.433-5T>C
|
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NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
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NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
|
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|
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.645A>G (p.Glu215=)
|
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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.705C>T (p.Gly235=)
|
rs767516975
|
|
NM_012463.4(ATP6V0A2):c.731+12A>G
|
|
|
NM_012463.4(ATP6V0A2):c.731+16A>G
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NM_012463.4(ATP6V0A2):c.732-23T>G
|
rs2271660
|
|
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.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.826-89GA[3]
|
|
|
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
|
rs139680786
|
|
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
|
|
|
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
|
|
|
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
|
|
|
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=)
|
rs2135901865
|
|
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
|
|
|
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)
|
|
|