NM_001130987.2(DYSF):c.3928-85G>T
|
rs1529408
|
0.96005
|
NM_001130987.2(DYSF):c.5885-16T>C
|
rs1863812
|
0.91575
|
NM_001130987.2(DYSF):c.4626+43A>G
|
rs84182
|
0.87024
|
NM_001130987.2(DYSF):c.4528-56A>G
|
rs84181
|
0.85683
|
NM_213599.3(ANO5):c.267T>C (p.Asp89=)
|
rs4312063
|
0.83210
|
NM_213599.3(ANO5):c.-136G>C
|
rs12792259
|
0.83191
|
NM_001130987.2(DYSF):c.1277-48A>G
|
rs4852800
|
0.81805
|
NM_001130987.2(DYSF):c.1034-68T>C
|
rs12713755
|
0.81086
|
NM_001130987.2(DYSF):c.1003-73A>G
|
rs11675897
|
0.81016
|
NM_001130987.2(DYSF):c.5004-37C>T
|
rs2303599
|
0.79706
|
NM_001130987.2(DYSF):c.5785-41C>T
|
rs2559081
|
0.77107
|
NM_001130987.2(DYSF):c.1985-116T>C
|
rs2303597
|
0.72705
|
NM_213599.3(ANO5):c.*3178C>G
|
rs6483841
|
0.72187
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001130987.2(DYSF):c.1033+94G>T
|
rs11687223
|
0.68496
|
NM_001130987.2(DYSF):c.1450-88A>G
|
rs4852802
|
0.67986
|
NM_213599.3(ANO5):c.138+169G>A
|
rs4922980
|
0.67443
|
NM_213599.3(ANO5):c.*1286G>T
|
rs7925081
|
0.65457
|
NM_001130987.2(DYSF):c.1449+13C>T
|
rs4852801
|
0.60553
|
NM_001130987.2(DYSF):c.3403-121G>C
|
rs3811611
|
0.59433
|
NM_001130987.2(DYSF):c.2979+112A>C
|
rs10183967
|
0.57695
|
NM_213599.3(ANO5):c.*496A>G
|
rs10766930
|
0.53080
|
NM_001130987.2(DYSF):c.1034-20G>A
|
rs12713756
|
0.48623
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_001130987.2(DYSF):c.460+150A>G
|
rs57229705
|
0.19499
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_001130987.2(DYSF):c.3086-17G>A
|
rs3764971
|
0.18932
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_001130987.2(DYSF):c.-30G>A
|
rs61333801
|
0.17633
|
NM_213599.3(ANO5):c.2520+25G>C
|
rs11026488
|
0.16418
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
NM_001130987.2(DYSF):c.2864+84G>C
|
rs62143855
|
0.14839
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_001130987.2(DYSF):c.1494-163G>T
|
rs79617374
|
0.13069
|
NM_001130987.2(DYSF):c.1034-64C>T
|
rs55695728
|
0.12659
|
NM_001130987.2(DYSF):c.4221+96C>T
|
rs2016605
|
0.12613
|
NM_001130987.2(DYSF):c.760-17C>T
|
rs61104194
|
0.11792
|
NM_213599.3(ANO5):c.*1521T>C
|
rs73483433
|
0.09970
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_001130987.2(DYSF):c.889-104G>A
|
rs13417592
|
0.09831
|
NM_213599.3(ANO5):c.*1313A>G
|
rs73483432
|
0.09785
|
NM_001130987.2(DYSF):c.148-91C>T
|
rs35628632
|
0.09296
|
NM_001130987.2(DYSF):c.1149+54C>T
|
rs56343439
|
0.09198
|
NM_001130987.2(DYSF):c.4221+119A>G
|
rs1814333
|
0.08837
|
NM_001130987.2(DYSF):c.239+20G>A
|
rs12470028
|
0.08061
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_213599.3(ANO5):c.879-18T>C
|
rs7104758
|
0.06440
|
NM_213599.3(ANO5):c.*3152G>A
|
rs79486036
|
0.04921
|
NM_001130987.2(DYSF):c.3575-17C>T
|
rs13421969
|
0.04340
|
NM_001130987.2(DYSF):c.1807-24C>G
|
rs2303595
|
0.04339
|
NM_213599.3(ANO5):c.*3121A>G
|
rs35827261
|
0.04156
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001130987.2(DYSF):c.889-68G>A
|
rs28500662
|
0.03261
|
NM_001130987.2(DYSF):c.460+82C>T
|
rs79084610
|
0.03125
|
NM_213599.3(ANO5):c.1898+29G>T
|
rs76084798
|
0.02917
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
NM_001130987.2(DYSF):c.4222-20G>A
|
rs111935215
|
0.02442
|
NM_001130987.2(DYSF):c.2410-117A>G
|
rs72827550
|
0.02151
|
NM_213599.3(ANO5):c.1120-24A>T
|
rs11026476
|
0.02147
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)
|
rs115750596
|
0.00971
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
NM_213599.3(ANO5):c.*1429A>G
|
rs78143145
|
0.00911
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser)
|
rs138144479
|
0.00727
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)
|
rs146136277
|
0.00524
|
NM_213599.3(ANO5):c.1095A>G (p.Leu365=)
|
rs35804601
|
0.00183
|
NM_213599.3(ANO5):c.2521-7C>T
|
rs201438159
|
0.00109
|
NM_213599.3(ANO5):c.2029+19T>G
|
rs374035760
|
0.00052
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_001130987.2(DYSF):c.3229-61G>C
|
rs57041989
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
NM_213599.3(ANO5):c.*113del
|
rs5790246
|
|
NM_213599.3(ANO5):c.*1762del
|
rs398015552
|
|
NM_213599.3(ANO5):c.*3481dup
|
rs147581685
|
|
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1]
|
rs71034576
|
|
NM_213599.3(ANO5):c.-217G>T
|
rs73479393
|
|
NM_213599.3(ANO5):c.139-164del
|
rs60388835
|
|
NM_213599.3(ANO5):c.2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.2236-10dup
|
rs72105710
|
|
NM_213599.3(ANO5):c.2236-12_2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.2236-13_2236-10del
|
rs72105710
|
|
NM_213599.3(ANO5):c.2415-22del
|
rs5790245
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|