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
|
|