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.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.1794C>T (p.Tyr598=)
|
rs77191760
|
0.00238
|
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_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_012463.4(ATP6V0A2):c.1189+12G>T
|
rs377235629
|
0.00085
|
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.1332C>T (p.His444=)
|
rs139516254
|
0.00036
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1327-16G>A
|
rs149092701
|
0.00033
|
NM_024740.2(ALG9):c.1659C>T (p.Pro553=)
|
rs2276263
|
0.00031
|
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)
|
rs199995104
|
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_024740.2(ALG9):c.62C>T (p.Ala21Val)
|
rs1298391733
|
0.00012
|
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)
|
rs201694504
|
0.00011
|
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)
|
rs2271659
|
0.00008
|
NM_024740.2(ALG9):c.132-18T>G
|
rs528601164
|
0.00008
|
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)
|
rs181112338
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
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_012463.4(ATP6V0A2):c.118-6del
|
|
|
NM_012463.4(ATP6V0A2):c.1190-7dup
|
|
|
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.2466-3del
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3dup
|
rs370511382
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.522-13del
|
rs140638516
|
|
NM_024740.2(ALG9):c.1018+19G>A
|
|
|
NM_024740.2(ALG9):c.132-13del
|
|
|
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)
|
rs12575909
|
|
NM_024740.2(ALG9):c.1734-17del
|
|
|