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.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
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.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
NM_001130987.2(DYSF):c.460+82C>T
|
rs79084610
|
0.03125
|
NM_001130987.2(DYSF):c.1577-1635C>G
|
rs76402294
|
0.03029
|
NM_001130987.2(DYSF):c.*199T>G
|
rs13429381
|
0.02954
|
NM_213599.3(ANO5):c.1898+29G>T
|
rs76084798
|
0.02917
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
NM_213599.3(ANO5):c.*554C>T
|
rs117180492
|
0.02476
|
NM_001130987.2(DYSF):c.4222-20G>A
|
rs111935215
|
0.02442
|
NM_213599.3(ANO5):c.*279G>A
|
rs72982058
|
0.02298
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
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_001130987.2(DYSF):c.889-34C>T
|
rs115184725
|
0.01903
|
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_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_001130987.2(DYSF):c.3228+208A>C
|
rs143560409
|
0.00838
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
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.800C>G (p.Thr267Ser)
|
rs138144479
|
0.00727
|
NM_213599.3(ANO5):c.*3350T>G
|
rs144806967
|
0.00723
|
NM_213599.3(ANO5):c.*2357A>T
|
rs151218419
|
0.00715
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_001130987.2(DYSF):c.*267C>G
|
rs181677134
|
0.00625
|
NM_213599.3(ANO5):c.*2869A>G
|
rs115249135
|
0.00608
|
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)
|
rs146136277
|
0.00524
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_213599.3(ANO5):c.*622G>A
|
rs185108747
|
0.00343
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_213599.3(ANO5):c.*1967G>A
|
rs147606218
|
0.00226
|
NM_213599.3(ANO5):c.*1712T>C
|
rs530413127
|
0.00216
|
NM_213599.3(ANO5):c.1095A>G (p.Leu365=)
|
rs35804601
|
0.00183
|
NM_213599.3(ANO5):c.-210G>C
|
rs181864243
|
0.00172
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_213599.3(ANO5):c.2521-7C>T
|
rs201438159
|
0.00109
|
NM_213599.3(ANO5):c.*817A>G
|
rs551128567
|
0.00104
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_001130987.2(DYSF):c.3228+205C>A
|
rs149264392
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)
|
rs147139414
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)
|
rs143053635
|
0.00054
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
0.00053
|
NM_213599.3(ANO5):c.2029+19T>G
|
rs374035760
|
0.00052
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_213599.3(ANO5):c.*3077G>C
|
rs184295328
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
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.2697+1G>A
|
rs140108514
|
0.00046
|
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_001130987.2(DYSF):c.803A>C (p.Asn268Thr)
|
rs150917600
|
0.00037
|
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_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
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.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)
|
rs146064054
|
0.00021
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
NM_213599.3(ANO5):c.*1119C>T
|
rs886048131
|
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_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
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_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_213599.3(ANO5):c.*2274A>G
|
rs372225865
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
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.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)
|
rs143568054
|
0.00010
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
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.1798C>T (p.Arg600Trp)
|
rs149386446
|
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.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
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.*179G>A
|
rs886056284
|
0.00007
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)
|
rs753176482
|
0.00007
|
NM_213599.3(ANO5):c.*2752G>A
|
rs752574891
|
0.00007
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
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.2167G>A (p.Val723Met)
|
rs182450244
|
0.00005
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)
|
rs539727858
|
0.00005
|
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)
|
rs773240314
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
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.2148G>A (p.Ala716=)
|
rs201239189
|
0.00004
|
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)
|
rs201209494
|
0.00004
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)
|
rs762486621
|
0.00004
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00004
|
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)
|
rs779159879
|
0.00004
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)
|
rs370286628
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)
|
rs372952394
|
0.00004
|
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln)
|
rs143078257
|
0.00004
|
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.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)
|
rs747583441
|
0.00003
|
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)
|
rs766924837
|
0.00003
|
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)
|
rs778065845
|
0.00003
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)
|
rs369627849
|
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_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser)
|
rs139344099
|
0.00003
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.1380+2T>C
|
rs398123765
|
0.00002
|
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)
|
rs755829878
|
0.00002
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)
|
rs199543257
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)
|
rs754763074
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)
|
rs761916273
|
0.00002
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)
|
rs571364996
|
0.00002
|
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)
|
rs763309812
|
0.00002
|
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)
|
rs748528655
|
0.00002
|
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
|
rs957111625
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001130987.2(DYSF):c.759+10G>A
|
rs200198865
|
0.00002
|
NM_001130987.2(DYSF):c.785G>A (p.Arg262His)
|
rs764849844
|
0.00002
|
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)
|
rs777607869
|
0.00002
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)
|
rs375071568
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.1276+13C>T
|
rs373530549
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)
|
rs794727119
|
0.00001
|
NM_001130987.2(DYSF):c.1493+13T>C
|
rs886056279
|
0.00001
|
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=)
|
rs886056280
|
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.1609G>A (p.Gly537Arg)
|
rs121908962
|
0.00001
|
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)
|
rs559177313
|
0.00001
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)
|
rs567956595
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.1985-1G>T
|
rs2091139939
|
0.00001
|
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)
|
rs756258757
|
0.00001
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)
|
rs370745710
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala)
|
rs886042550
|
0.00001
|
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser)
|
rs772518246
|
0.00001
|
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)
|
rs770883682
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs)
|
rs748542672
|
0.00001
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)
|
rs763674597
|
0.00001
|
NM_001130987.2(DYSF):c.3898-4C>G
|
rs555206040
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001130987.2(DYSF):c.4387+2T>C
|
rs759939755
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)
|
rs886044422
|
0.00001
|
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu)
|
rs199827126
|
0.00001
|
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)
|
rs1342179740
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5458-1G>A
|
rs886042879
|
0.00001
|
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)
|
rs886056283
|
0.00001
|
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe)
|
rs1486691301
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.5784+1G>A
|
rs909564120
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs)
|
rs886042318
|
0.00001
|
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)
|
rs886043489
|
0.00001
|
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)
|
rs746663568
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)
|
rs398123808
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
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.*3196A>G
|
rs886048142
|
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.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)
|
rs1168346560
|
0.00001
|
NM_213599.3(ANO5):c.1548C>T (p.Leu516=)
|
rs886042624
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
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.424A>T (p.Thr142Ser)
|
rs757367942
|
0.00001
|
NM_213599.3(ANO5):c.567A>G (p.Ala189=)
|
rs546565538
|
0.00001
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.*245T>C
|
rs886056285
|
|
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)
|
rs1573671276
|
|
NM_001130987.2(DYSF):c.1002+1G>A
|
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1003-1G>A
|
|
|
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
|
|
|
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)
|
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)
|
|
|
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
|
|
|
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
|
rs2082829594
|
|
NM_001130987.2(DYSF):c.1192del (p.Ser398fs)
|
rs2087887269
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
|
|
|
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)
|
rs779969348
|
|
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)
|
rs778673716
|
|
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)
|
|
|
NM_001130987.2(DYSF):c.1264_1276+1dup
|
|
|
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
|
rs2087900330
|
|
NM_001130987.2(DYSF):c.1272_1276+3dup
|
|
|
NM_001130987.2(DYSF):c.1274_1276+4dup
|
rs768425085
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
|
|
|
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)
|
rs766936914
|
|
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)
|
rs398123766
|
|
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
|
rs2089169741
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)
|
rs1236367931
|
|
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del)
|
rs2152761340
|
|
NM_001130987.2(DYSF):c.148-2A>G
|
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
NM_001130987.2(DYSF):c.1494-1G>C
|
|
|
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
|
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.1577-1655C>G
|
rs886044410
|
|
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT
|
|
|
NM_001130987.2(DYSF):c.1595del (p.Phe532fs)
|
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
|
|
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)
|
rs2090909751
|
|
NM_001130987.2(DYSF):c.1625del (p.Asn542fs)
|
rs2152786967
|
|
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
|
|
|
NM_001130987.2(DYSF):c.1686del (p.Gly563fs)
|
|
|
NM_001130987.2(DYSF):c.1692+1G>C
|
|
|
NM_001130987.2(DYSF):c.1709_1722del (p.Tyr570fs)
|
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1806+1G>T
|
|
|
NM_001130987.2(DYSF):c.1807-2A>G
|
|
|
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
|
|
|
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
|
|
|
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)
|
rs121908953
|
|
NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)
|
|
|
NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)
|
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr)
|
rs886043196
|
|
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)
|
rs2082945195
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.1984+2T>A
|
|
|
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
|
|
|
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)
|
rs2091142154
|
|
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)
|
rs2091144091
|
|
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)
|
rs121908957
|
|
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)
|
rs770228554
|
|
NM_001130987.2(DYSF):c.2110-1G>A
|
|
|
NM_001130987.2(DYSF):c.2217-1G>A
|
|
|
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
|
|
|
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
|
|
|
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
|
|
|
NM_001130987.2(DYSF):c.2258_2259del (p.His753fs)
|
|
|
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
|
|
|
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)
|
|
|
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
|
|
|
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)
|
rs398123773
|
|
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)
|
rs121908956
|
|
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
|
|
|
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs)
|
rs755849745
|
|
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)
|
rs2091951931
|
|
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
|
rs2092204417
|
|
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)
|
rs2092205152
|
|
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)
|
rs780129376
|
|
NM_001130987.2(DYSF):c.2628del (p.Phe876fs)
|
|
|
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)
|
rs2092208616
|
|
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
|
rs2092209337
|
|
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
|
|
|
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)
|
rs2092210085
|
|
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)
|
rs2092211777
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)
|
|
|
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
|
|
|
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg)
|
rs886056281
|
|
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)
|
|
|
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
|
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
|
rs2092231526
|
|
NM_001130987.2(DYSF):c.2864+1G>C
|
|
|
NM_001130987.2(DYSF):c.2864+5G>A
|
rs886044131
|
|
NM_001130987.2(DYSF):c.2891del (p.His964fs)
|
|
|
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs)
|
rs2092323164
|
|
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)
|
rs398123777
|
|
NM_001130987.2(DYSF):c.2947del (p.Trp983fs)
|
|
|
NM_001130987.2(DYSF):c.2964del (p.Asp988fs)
|
|
|
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn)
|
rs2152814096
|
|
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)
|
rs2092340623
|
|
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
|
rs763925689
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
|
|
|
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
|
rs2092343409
|
|
NM_001130987.2(DYSF):c.3085+2T>C
|
rs886042951
|
|
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
|
|
|
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly)
|
rs2152815107
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs)
|
rs753711667
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
|
|
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)
|
|
|
NM_001130987.2(DYSF):c.3164_3165del (p.His1055fs)
|
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
|
|
|
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
|
rs2092369130
|
|
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
|
|
|
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
|
|
|
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
|
|
|
NM_001130987.2(DYSF):c.3228+2T>C
|
|
|
NM_001130987.2(DYSF):c.3229-61G>C
|
rs57041989
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
|
rs1666836481
|
|
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
|
|
|
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs)
|
rs2152822956
|
|
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
|
rs1252415299
|
|
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)
|
|
|
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)
|
|
|
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs)
|
rs1574097294
|
|
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
|
|
|
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
|
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)
|
rs1558513494
|
|
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
|
|
|
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)
|
rs398123780
|
|
NM_001130987.2(DYSF):c.3427del (p.Glu1143fs)
|
rs2093189899
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)
|
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
|
rs2093222376
|
|
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)
|
rs886042827
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3575-1G>C
|
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
|
rs2093464314
|
|
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)
|
rs1380642629
|
|
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)
|
|
|
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
|
|
|
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
|
rs143393575
|
|
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
|
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)
|
rs773773555
|
|
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala)
|
rs886056278
|
|
NM_001130987.2(DYSF):c.3756+6T>A
|
|
|
NM_001130987.2(DYSF):c.3812del (p.Pro1271fs)
|
|
|
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
|
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)
|
|
|
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
|
rs1462064763
|
|
NM_001130987.2(DYSF):c.3927+10G>A
|
rs886056282
|
|
NM_001130987.2(DYSF):c.3957+2T>G
|
rs1553377764
|
|
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter)
|
rs147950418
|
|
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
|
|
|
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
|
|
|
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
|
|
|
NM_001130987.2(DYSF):c.410del (p.Pro137fs)
|
rs886043342
|
|
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)
|
rs1574340403
|
|
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)
|
rs971134497
|
|
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)
|
rs139654844
|
|
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
|
|
|
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)
|
|
|
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
|
|
|
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
|
|
|
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)
|
rs886043145
|
|
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)
|
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4528-2del
|
|
|
NM_001130987.2(DYSF):c.4528-5C>G
|
rs774448845
|
|
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
|
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)
|
rs398123788
|
|
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)
|
rs886042635
|
|
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
|
|
|
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
|
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
NM_001130987.2(DYSF):c.4755+1G>A
|
|
|
NM_001130987.2(DYSF):c.4756-1G>A
|
rs2152940909
|
|
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs)
|
rs1179051248
|
|
NM_001130987.2(DYSF):c.4771del (p.Tyr1591fs)
|
|
|
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
|
rs2094828804
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
|
|
|
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)
|
rs1057516051
|
|
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs)
|
rs772270346
|
|
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
|
rs2094861411
|
|
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)
|
rs786200896
|
|
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
|
rs868779799
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer)
|
rs2152950672
|
|
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
|
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)
|
|
|
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)
|
rs753279446
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
|
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
NM_001130987.2(DYSF):c.5175-1G>A
|
|
|
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
|
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)
|
rs1558771348
|
|
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
|
|
|
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
|
rs2094975129
|
|
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
|
|
|
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
|
|
|
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
|
|
|
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
|
|
|
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
|
rs2094975881
|
|
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
|
rs2094976185
|
|
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)
|
rs762398889
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)
|
rs2094976441
|
|
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)
|
rs727503912
|
|
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
|
rs2095035479
|
|
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
|
|
|
NM_001130987.2(DYSF):c.5458-2A>G
|
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5546+2T>A
|
rs1553415233
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)
|
|
|
NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter)
|
rs2152955939
|
|
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)
|
rs768704227
|
|
NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp)
|
rs931174858
|
|
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)
|
rs2095073059
|
|
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
|
|
|
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
|
rs1320752132
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
NM_001130987.2(DYSF):c.5642+2T>A
|
|
|
NM_001130987.2(DYSF):c.5642+3A>G
|
|
|
NM_001130987.2(DYSF):c.5642_5642+12del
|
|
|
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)
|
rs886043966
|
|
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
|
|
|
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)
|
rs1024524968
|
|
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)
|
rs786205081
|
|
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)
|
rs1573100371
|
|
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
|
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5785-824C>T
|
rs1285082850
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
NM_001130987.2(DYSF):c.5830_5843del (p.Arg1944fs)
|
|
|
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)
|
rs1573138313
|
|
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)
|
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)
|
|
|
NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)
|
|
|
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
|
|
|
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg)
|
rs1553420858
|
|
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs)
|
rs2152967906
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
|
|
|
NM_001130987.2(DYSF):c.6064-1G>C
|
rs886042636
|
|
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
|
|
|
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
|
rs2095289978
|
|
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
|
|
|
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)
|
|
|
NM_001130987.2(DYSF):c.6173+1G>A
|
|
|
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)
|
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])
|
rs749619435
|
|
NM_001130987.2(DYSF):c.6321+1G>C
|
|
|
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
|
|
|
NM_001130987.2(DYSF):c.641del (p.Ala214fs)
|
|
|
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
|
|
|
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
|
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
|
|
|
NM_001130987.2(DYSF):c.754_759+5del
|
rs1433612344
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
NM_001130987.2(DYSF):c.760-2A>G
|
|
|
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
|
rs759065714
|
|
NM_001130987.2(DYSF):c.859del (p.His287fs)
|
|
|
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
|
rs794727851
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)
|
rs1553522104
|
|
NM_001130987.2(DYSF):c.907_910del (p.Phe303fs)
|
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
NM_001130987.2(DYSF):c.923del (p.Glu308fs)
|
rs2086635842
|
|
NM_001130987.2(DYSF):c.947del (p.Ile316fs)
|
|
|
NM_001130987.2(DYSF):c.951+1del
|
rs786200898
|
|
NM_001130987.2(DYSF):c.951+2T>C
|
|
|
NM_001130987.2(DYSF):c.952-3C>G
|
|
|
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
|
rs1553522751
|
|
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
|
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
|
|
|
NM_001130987.2(DYSF):c.997_1002+1delinsAAAA
|
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)
|
rs1553370437
|
|
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)
|
rs886042504
|
|
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
|
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
NM_003494.4(DYSF):c.1522+1G>A
|
rs1473130799
|
|
NM_003494.4(DYSF):c.1642del
|
rs398123772
|
|
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)
|
rs2080944539
|
|
NM_003494.4(DYSF):c.42_43del (p.Pro15fs)
|
|
|
NM_003494.4(DYSF):c.88+1G>A
|
|
|
NM_213599.2(ANO5):c.[155A>G];[191dupA]
|
|
|
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.*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.*1762del
|
rs398015552
|
|
NM_213599.3(ANO5):c.*1890AAGA[1]
|
rs397786204
|
|
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.*3481dup
|
rs147581685
|
|
NM_213599.3(ANO5):c.*811A>G
|
rs886048129
|
|
NM_213599.3(ANO5):c.*99del
|
rs376217145
|
|
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1]
|
rs71034576
|
|
NM_213599.3(ANO5):c.-194G>T
|
rs573002846
|
|
NM_213599.3(ANO5):c.-217G>T
|
rs73479393
|
|
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)
|
rs1554929295
|
|
NM_213599.3(ANO5):c.1158del (p.Phe386fs)
|
rs1564936489
|
|
NM_213599.3(ANO5):c.1277T>C (p.Leu426Pro)
|
rs886048119
|
|
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)
|
rs754889480
|
|
NM_213599.3(ANO5):c.138+10G>A
|
rs78987921
|
|
NM_213599.3(ANO5):c.138+7A>G
|
rs886048118
|
|
NM_213599.3(ANO5):c.139-164del
|
rs60388835
|
|
NM_213599.3(ANO5):c.1418_1421delinsGGACGACACCAGTGACGA (p.Val473fs)
|
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.1641A>C (p.Arg547=)
|
rs886048120
|
|
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs)
|
rs1554931773
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter)
|
rs768835530
|
|
NM_213599.3(ANO5):c.2236-10_2236-7del
|
rs886048121
|
|
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.2249C>T (p.Ala750Val)
|
rs886048123
|
|
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)
|
|
|
NM_213599.3(ANO5):c.2415-22del
|
rs5790245
|
|
NM_213599.3(ANO5):c.2580T>C (p.Asp860=)
|
rs886048125
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.79A>C (p.Met27Leu)
|
rs886048117
|
|
NM_213599.3(ANO5):c.88-14C>T
|
rs770721931
|
|
NM_213599.3(ANO5):c.898dup (p.Ile300fs)
|
rs1383346134
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
NM_213599.3(ANO5):c.[1520del];[155A>G]
|
|
|