NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)
|
rs16846517
|
0.01187
|
NM_020632.3(ATP6V0A4):c.417+14G>C
|
rs141824671
|
0.01075
|
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=)
|
rs77328827
|
0.00942
|
NM_020632.3(ATP6V0A4):c.816+19C>T
|
rs80076422
|
0.00643
|
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln)
|
rs140846842
|
0.00528
|
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)
|
rs34772799
|
0.00346
|
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)
|
rs6956646
|
0.00297
|
NM_001098484.3(SLC4A4):c.550+3A>G
|
rs199790542
|
0.00289
|
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=)
|
rs114698511
|
0.00156
|
NM_001098484.3(SLC4A4):c.807+13T>G
|
rs116455604
|
0.00154
|
NM_020632.3(ATP6V0A4):c.1573-3C>T
|
rs182512951
|
0.00153
|
NM_001098484.3(SLC4A4):c.1322+15C>T
|
rs151292808
|
0.00130
|
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=)
|
rs146394238
|
0.00110
|
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=)
|
rs141568521
|
0.00070
|
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser)
|
rs150863118
|
0.00066
|
NM_020632.3(ATP6V0A4):c.2011-8G>A
|
rs183571925
|
0.00061
|
NM_001098484.3(SLC4A4):c.3099+15A>G
|
rs576304574
|
0.00058
|
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp)
|
rs147889261
|
0.00035
|
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)
|
rs200226048
|
0.00031
|
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile)
|
rs201643562
|
0.00028
|
NM_020632.3(ATP6V0A4):c.1030-18T>C
|
rs769523748
|
0.00027
|
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe)
|
rs144697860
|
0.00027
|
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg)
|
rs145013450
|
0.00009
|
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala)
|
rs140896827
|
0.00009
|
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg)
|
rs371213982
|
0.00009
|
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp)
|
rs767146505
|
0.00009
|
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser)
|
rs190792699
|
0.00008
|
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met)
|
rs368301208
|
0.00006
|
NM_020632.3(ATP6V0A4):c.1909-19C>T
|
rs373949515
|
0.00006
|
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn)
|
rs147475779
|
0.00006
|
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg)
|
rs368553213
|
0.00005
|
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val)
|
rs772360411
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile)
|
rs150912912
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)
|
rs1252623454
|
0.00003
|
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg)
|
rs376273720
|
0.00003
|
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg)
|
rs141194465
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)
|
rs754517968
|
0.00002
|
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg)
|
rs767611310
|
0.00002
|
NM_020632.3(ATP6V0A4):c.417+8C>T
|
rs767661194
|
0.00002
|
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe)
|
rs202236628
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1029+4C>A
|
rs745448000
|
0.00001
|
NM_020632.3(ATP6V0A4):c.118-10G>A
|
rs191616896
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys)
|
rs370116072
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1691+1G>A
|
rs587776615
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)
|
rs121908367
|
0.00001
|
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=)
|
rs145593845
|
|
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His)
|
rs1736599400
|
|
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys)
|
rs369486474
|
|
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr)
|
rs774244498
|
|
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)
|
rs1584907924
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020632.3(ATP6V0A4):c.640-29dup
|
rs72044473
|
|