NM_005765.3(ATP6AP2):c.534+45G>C
|
rs3112299
|
0.91713
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522
|
0.02009
|
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys)
|
rs146371390
|
0.00018
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)
|
rs142013283
|
0.00011
|
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly)
|
rs748977074
|
0.00011
|
NM_005765.3(ATP6AP2):c.398G>A (p.Arg133Lys)
|
rs560852897
|
0.00009
|
NM_005765.3(ATP6AP2):c.534+7G>A
|
rs369876508
|
0.00009
|
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His)
|
rs756836341
|
0.00009
|
NM_005765.3(ATP6AP2):c.397-13A>G
|
rs369015249
|
0.00008
|
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=)
|
rs372993268
|
0.00007
|
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=)
|
rs775818303
|
0.00006
|
NM_005765.3(ATP6AP2):c.588+7A>G
|
rs377112095
|
0.00006
|
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=)
|
rs149902247
|
0.00006
|
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)
|
rs138150013
|
0.00005
|
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg)
|
rs745748841
|
0.00005
|
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=)
|
rs138952430
|
0.00005
|
NM_005765.3(ATP6AP2):c.120G>A (p.Glu40=)
|
rs748408839
|
0.00004
|
NM_005765.3(ATP6AP2):c.859-11C>T
|
rs767283025
|
0.00004
|
NM_005765.3(ATP6AP2):c.300+19A>C
|
rs763279174
|
0.00003
|
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)
|
rs184634552
|
0.00003
|
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)
|
rs147857235
|
0.00002
|
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe)
|
rs759094089
|
0.00002
|
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr)
|
rs910550834
|
0.00002
|
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val)
|
rs375148460
|
0.00002
|
NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=)
|
rs1173775262
|
0.00002
|
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)
|
rs138458908
|
0.00002
|
NM_005765.3(ATP6AP2):c.534+16C>T
|
rs750200667
|
0.00002
|
NM_005765.3(ATP6AP2):c.535-14T>G
|
rs769547935
|
0.00002
|
NM_005765.3(ATP6AP2):c.678T>C (p.Tyr226=)
|
rs1386735381
|
0.00002
|
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser)
|
rs202105468
|
0.00001
|
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)
|
rs767128351
|
0.00001
|
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=)
|
rs771044157
|
0.00001
|
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile)
|
rs966044221
|
0.00001
|
NM_005765.3(ATP6AP2):c.324T>C (p.Ser108=)
|
rs772002758
|
0.00001
|
NM_005765.3(ATP6AP2):c.372T>G (p.Val124=)
|
rs768335960
|
0.00001
|
NM_005765.3(ATP6AP2):c.38-13G>A
|
rs374449836
|
0.00001
|
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys)
|
rs745734335
|
0.00001
|
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys)
|
rs760027081
|
0.00001
|
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser)
|
rs377762605
|
0.00001
|
NM_005765.3(ATP6AP2):c.534+14T>A
|
rs372642412
|
0.00001
|
NM_005765.3(ATP6AP2):c.534+8C>T
|
rs753957171
|
0.00001
|
NM_005765.3(ATP6AP2):c.589-12T>C
|
rs1382713000
|
0.00001
|
NM_005765.3(ATP6AP2):c.589-3A>G
|
rs370220088
|
0.00001
|
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His)
|
rs751433380
|
0.00001
|
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn)
|
rs1242256343
|
0.00001
|
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys)
|
rs1158279990
|
0.00001
|
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val)
|
rs776952090
|
0.00001
|
NM_005765.3(ATP6AP2):c.859-9A>G
|
rs1226152622
|
0.00001
|
NM_005765.3(ATP6AP2):c.888A>G (p.Ala296=)
|
rs764184906
|
0.00001
|
NM_005765.3(ATP6AP2):c.948C>T (p.Ala316=)
|
rs968409596
|
0.00001
|
NC_000023.10:g.(?_40464793)_(40465007_?)dup
|
|
|
NC_000023.11:g.(?_40581046)_(40605775_?)dup
|
|
|
NM_005765.3(ATP6AP2):c.1008T>C (p.Asp336=)
|
|
|
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)
|
rs1927055441
|
|
NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
|
|
|
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
|
|
|
NM_005765.3(ATP6AP2):c.168+15T>G
|
|
|
NM_005765.3(ATP6AP2):c.168+3A>G
|
|
|
NM_005765.3(ATP6AP2):c.168+6T>A
|
rs1057519331
|
|
NM_005765.3(ATP6AP2):c.168+7A>G
|
rs2146538326
|
|
NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
|
|
|
NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
|
|
|
NM_005765.3(ATP6AP2):c.192A>T (p.Ala64=)
|
|
|
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu)
|
rs2146539439
|
|
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
|
|
|
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu)
|
rs796052283
|
|
NM_005765.3(ATP6AP2):c.252C>T (p.Asn84=)
|
|
|
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)
|
rs1926620037
|
|
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)
|
rs1450455949
|
|
NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=)
|
rs34217273
|
|
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser)
|
rs1926621605
|
|
NM_005765.3(ATP6AP2):c.301-11_301-10del
|
rs1926795050
|
|
NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=)
|
rs770593270
|
|
NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
|
|
|
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)
|
rs121918521
|
|
NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
|
|
|
NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
|
|
|
NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
|
|
|
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=)
|
rs397518480
|
|
NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
|
|
|
NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)
|
|
|
NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
|
|
|
NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
|
|
|
NM_005765.3(ATP6AP2):c.397-16T>G
|
|
|
NM_005765.3(ATP6AP2):c.397-9T>A
|
|
|
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)
|
rs1555977799
|
|
NM_005765.3(ATP6AP2):c.411A>G (p.Val137=)
|
rs2146542663
|
|
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=)
|
rs1555977800
|
|
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)
|
rs1926802970
|
|
NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=)
|
rs1926803092
|
|
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)
|
rs2146542684
|
|
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)
|
rs866274169
|
|
NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
|
|
|
NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=)
|
rs2146542730
|
|
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)
|
rs1926552105
|
|
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=)
|
rs371701957
|
|
NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
|
|
|
NM_005765.3(ATP6AP2):c.534+10G>A
|
|
|
NM_005765.3(ATP6AP2):c.534+10G>C
|
rs758140053
|
|
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)
|
rs773037776
|
|
NM_005765.3(ATP6AP2):c.546C>T (p.Leu182=)
|
|
|
NM_005765.3(ATP6AP2):c.589-19G>A
|
|
|
NM_005765.3(ATP6AP2):c.589-6C>T
|
|
|
NM_005765.3(ATP6AP2):c.594T>G (p.Ser198=)
|
|
|
NM_005765.3(ATP6AP2):c.609A>G (p.Leu203=)
|
rs2146543619
|
|
NM_005765.3(ATP6AP2):c.60T>C (p.Ser20=)
|
|
|
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)
|
rs2146543631
|
|
NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=)
|
rs1926856559
|
|
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)
|
rs2146543666
|
|
NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
|
|
|
NM_005765.3(ATP6AP2):c.735A>G (p.Gln245=)
|
|
|
NM_005765.3(ATP6AP2):c.738+10A>T
|
|
|
NM_005765.3(ATP6AP2):c.738+15G>A
|
rs777239225
|
|
NM_005765.3(ATP6AP2):c.738+8T>A
|
rs2146543689
|
|
NM_005765.3(ATP6AP2):c.739-5_739-4del
|
|
|
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)
|
rs2146544175
|
|
NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
|
|
|
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
|
|
|
NM_005765.3(ATP6AP2):c.777A>G (p.Ala259=)
|
|
|
NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
|
|
|
NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=)
|
rs2146544212
|
|
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)
|
rs1555978066
|
|
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
|
|
|
NM_005765.3(ATP6AP2):c.858+4A>G
|
|
|
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)
|
rs1555978069
|
|
NM_005765.3(ATP6AP2):c.859-11C>G
|
rs767283025
|
|
NM_005765.3(ATP6AP2):c.859-5T>C
|
|
|
NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
|
|
|
NM_005765.3(ATP6AP2):c.891T>C (p.Tyr297=)
|
|
|
NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
|
|
|
NM_005765.3(ATP6AP2):c.930A>G (p.Val310=)
|
|
|
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)
|
rs2146547241
|
|
NM_005765.3(ATP6AP2):c.945C>T (p.Ile315=)
|
|
|
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
|
|
|
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp)
|
rs1555978614
|
|
NM_005765.3(ATP6AP2):c.954C>G (p.Ala318=)
|
|
|
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met)
|
rs2146547252
|
|
NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)
|
|
|
NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)
|
|
|