NM_213599.3(ANO5):c.*554C>T
|
rs117180492
|
0.02476
|
NM_213599.3(ANO5):c.*279G>A
|
rs72982058
|
0.02298
|
NM_213599.3(ANO5):c.*3168C>T
|
rs35892535
|
0.01843
|
NM_001130987.2(DYSF):c.*53G>A
|
rs114777968
|
0.01775
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
NM_213599.3(ANO5):c.*2095G>A
|
rs142192440
|
0.01610
|
NM_213599.3(ANO5):c.*3155T>C
|
rs78929863
|
0.01340
|
NM_213599.3(ANO5):c.*1328C>T
|
rs78089375
|
0.01250
|
NM_213599.3(ANO5):c.-261A>C
|
rs114897158
|
0.01250
|
NM_213599.3(ANO5):c.*1661C>T
|
rs12284506
|
0.01249
|
NM_213599.3(ANO5):c.*930C>T
|
rs78428314
|
0.01204
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
NM_213599.3(ANO5):c.*3350T>G
|
rs144806967
|
0.00723
|
NM_213599.3(ANO5):c.*2357A>T
|
rs151218419
|
0.00715
|
NM_001130987.2(DYSF):c.*267C>G
|
rs181677134
|
0.00625
|
NM_213599.3(ANO5):c.*2869A>G
|
rs115249135
|
0.00608
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_213599.3(ANO5):c.*622G>A
|
rs185108747
|
0.00343
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_213599.3(ANO5):c.*1712T>C
|
rs530413127
|
0.00216
|
NM_213599.3(ANO5):c.-210G>C
|
rs181864243
|
0.00172
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
NM_213599.3(ANO5):c.*1967G>A
|
rs147606218
|
0.00144
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_213599.3(ANO5):c.*817A>G
|
rs551128567
|
0.00104
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_213599.3(ANO5):c.*3077G>C
|
rs184295328
|
0.00049
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_213599.3(ANO5):c.*2947A>T
|
rs764082792
|
0.00048
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
NM_213599.3(ANO5):c.*1757A>C
|
rs886048136
|
0.00033
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
NM_213599.3(ANO5):c.*2207A>T
|
rs143147634
|
0.00030
|
NM_001130987.2(DYSF):c.*78C>T
|
rs367543759
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001130987.2(DYSF):c.*75C>T
|
rs374833260
|
0.00026
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
NM_213599.3(ANO5):c.*3373C>A
|
rs868787906
|
0.00021
|
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)
|
rs201515915
|
0.00020
|
NM_213599.3(ANO5):c.*2568T>A
|
rs150297037
|
0.00019
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.*142G>A
|
rs774156078
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)
|
rs369170272
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_213599.3(ANO5):c.*2274A>G
|
rs372225865
|
0.00015
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
0.00011
|
NM_001130987.2(DYSF):c.*179G>A
|
rs886056284
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)
|
rs143568054
|
0.00010
|
NM_213599.3(ANO5):c.*1119C>T
|
rs886048131
|
0.00010
|
NM_213599.3(ANO5):c.2235+4A>C
|
rs372056234
|
0.00010
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)
|
rs201890095
|
0.00009
|
NM_213599.3(ANO5):c.369G>A (p.Ser123=)
|
rs199888040
|
0.00009
|
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)
|
rs143632564
|
0.00008
|
NM_001130987.2(DYSF):c.4464+7T>C
|
rs369949055
|
0.00008
|
NM_213599.3(ANO5):c.*1941C>T
|
rs183334403
|
0.00008
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
NM_213599.3(ANO5):c.*305A>T
|
rs867650799
|
0.00006
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)
|
rs773240314
|
0.00005
|
NM_213599.3(ANO5):c.*2293G>C
|
rs886048138
|
0.00005
|
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)
|
rs146341538
|
0.00005
|
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)
|
rs769254776
|
0.00004
|
NM_001130987.2(DYSF):c.1807-10C>T
|
rs749361351
|
0.00004
|
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)
|
rs201209494
|
0.00004
|
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)
|
rs370286628
|
0.00004
|
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln)
|
rs143078257
|
0.00004
|
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=)
|
rs886056280
|
0.00003
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)
|
rs148925399
|
0.00003
|
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)
|
rs747583441
|
0.00003
|
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)
|
rs781732915
|
0.00003
|
NM_001130987.2(DYSF):c.5643-12A>G
|
rs375507062
|
0.00003
|
NM_213599.3(ANO5):c.*2752G>A
|
rs752574891
|
0.00003
|
NM_213599.3(ANO5):c.*3196A>G
|
rs886048142
|
0.00003
|
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser)
|
rs139344099
|
0.00003
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)
|
rs761916273
|
0.00002
|
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)
|
rs763309812
|
0.00002
|
NM_001130987.2(DYSF):c.759+10G>A
|
rs200198865
|
0.00002
|
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)
|
rs777607869
|
0.00002
|
NM_001130987.2(DYSF):c.1276+13C>T
|
rs373530549
|
0.00001
|
NM_001130987.2(DYSF):c.1493+13T>C
|
rs886056279
|
0.00001
|
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser)
|
rs748826870
|
0.00001
|
NM_001130987.2(DYSF):c.1577-1639G>C
|
rs767550929
|
0.00001
|
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala)
|
rs886042550
|
0.00001
|
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)
|
rs770883682
|
0.00001
|
NM_001130987.2(DYSF):c.3898-4C>G
|
rs555206040
|
0.00001
|
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)
|
rs886056283
|
0.00001
|
NM_213599.3(ANO5):c.*1248A>G
|
rs886048132
|
0.00001
|
NM_213599.3(ANO5):c.*1647T>C
|
rs886048133
|
0.00001
|
NM_213599.3(ANO5):c.*185A>G
|
rs774589940
|
0.00001
|
NM_213599.3(ANO5):c.*3206A>G
|
rs886048143
|
0.00001
|
NM_213599.3(ANO5):c.-162A>G
|
rs61879341
|
0.00001
|
NM_213599.3(ANO5):c.-65G>C
|
rs886048116
|
0.00001
|
NM_213599.3(ANO5):c.1548C>T (p.Leu516=)
|
rs886042624
|
0.00001
|
NM_213599.3(ANO5):c.1801-9T>C
|
rs202034123
|
0.00001
|
NM_213599.3(ANO5):c.2139C>T (p.Thr713=)
|
rs767479331
|
0.00001
|
NM_213599.3(ANO5):c.2236-5T>G
|
rs886048122
|
0.00001
|
NM_213599.3(ANO5):c.2317A>G (p.Met773Val)
|
rs751028884
|
0.00001
|
NM_213599.3(ANO5):c.2478G>T (p.Trp826Cys)
|
rs886048124
|
0.00001
|
NM_213599.3(ANO5):c.567A>G (p.Ala189=)
|
rs546565538
|
0.00001
|
NM_001130987.2(DYSF):c.*245T>C
|
rs886056285
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)
|
rs770228554
|
|
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg)
|
rs886056281
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala)
|
rs886056278
|
|
NM_001130987.2(DYSF):c.3927+10G>A
|
rs886056282
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
NM_213599.3(ANO5):c.*106T>C
|
rs886048126
|
|
NM_213599.3(ANO5):c.*1095G>A
|
rs886048130
|
|
NM_213599.3(ANO5):c.*112_*113del
|
rs5790246
|
|
NM_213599.3(ANO5):c.*114C>T
|
rs12575889
|
|
NM_213599.3(ANO5):c.*114_*115del
|
rs886048127
|
|
NM_213599.3(ANO5):c.*1666_*1669dup
|
rs886048134
|
|
NM_213599.3(ANO5):c.*1674T>A
|
rs886048135
|
|
NM_213599.3(ANO5):c.*220G>A
|
rs886048128
|
|
NM_213599.3(ANO5):c.*2252T>C
|
rs886048137
|
|
NM_213599.3(ANO5):c.*2296T>C
|
rs762485787
|
|
NM_213599.3(ANO5):c.*2704A>C
|
rs886048139
|
|
NM_213599.3(ANO5):c.*2784G>A
|
rs886048140
|
|
NM_213599.3(ANO5):c.*2980T>C
|
rs886048141
|
|
NM_213599.3(ANO5):c.*3251_*3253del
|
rs548308698
|
|
NM_213599.3(ANO5):c.*3273G>C
|
rs886048145
|
|
NM_213599.3(ANO5):c.*3473T>G
|
rs886048147
|
|
NM_213599.3(ANO5):c.*811A>G
|
rs886048129
|
|
NM_213599.3(ANO5):c.*99del
|
rs376217145
|
|
NM_213599.3(ANO5):c.-194G>T
|
rs573002846
|
|
NM_213599.3(ANO5):c.1277T>C (p.Leu426Pro)
|
rs886048119
|
|
NM_213599.3(ANO5):c.138+10G>A
|
rs78987921
|
|
NM_213599.3(ANO5):c.138+7A>G
|
rs886048118
|
|
NM_213599.3(ANO5):c.1641A>C (p.Arg547=)
|
rs886048120
|
|
NM_213599.3(ANO5):c.2236-10_2236-7del
|
rs886048121
|
|
NM_213599.3(ANO5):c.2249C>T (p.Ala750Val)
|
rs886048123
|
|
NM_213599.3(ANO5):c.2580T>C (p.Asp860=)
|
rs886048125
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
NM_213599.3(ANO5):c.79A>C (p.Met27Leu)
|
rs886048117
|
|
NM_213599.3(ANO5):c.88-14C>T
|
rs770721931
|
|