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_213599.3(ANO5):c.*1286G>T
|
rs7925081
|
0.65457
|
NM_213599.3(ANO5):c.*496A>G
|
rs10766930
|
0.53080
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_000231.3(SGCG):c.*295T>C
|
rs3829352
|
0.37163
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_000231.3(SGCG):c.-88G>A
|
rs4770403
|
0.15108
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_213599.3(ANO5):c.*1521T>C
|
rs73483433
|
0.09970
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_000337.6(SGCD):c.*4092A>G
|
rs56389540
|
0.09897
|
NM_213599.3(ANO5):c.*1313A>G
|
rs73483432
|
0.09785
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
NM_000337.6(SGCD):c.*3650G>T
|
rs72803044
|
0.08674
|
NM_000337.6(SGCD):c.*3962G>A
|
rs56182215
|
0.08205
|
NM_000337.6(SGCD):c.*3687A>G
|
rs72803046
|
0.08194
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_000337.6(SGCD):c.*7300C>A
|
rs72803048
|
0.06455
|
NM_000337.5(SGCD):c.-303A>T
|
rs7725121
|
0.06375
|
NM_000231.3(SGCG):c.*13C>T
|
rs9510701
|
0.05421
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
NM_213599.3(ANO5):c.*3152G>A
|
rs79486036
|
0.04921
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
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.*554C>T
|
rs117180492
|
0.02476
|
NM_213599.3(ANO5):c.*279G>A
|
rs72982058
|
0.02298
|
NM_000337.6(SGCD):c.*7596A>G
|
rs80115276
|
0.02244
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_213599.3(ANO5):c.*3168C>T
|
rs35892535
|
0.01843
|
NM_001130987.2(DYSF):c.*53G>A
|
rs114777968
|
0.01775
|
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)
|
rs62642519
|
0.01774
|
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_000070.3(CAPN3):c.1355-6G>A
|
rs28364485
|
0.01593
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
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_000070.3(CAPN3):c.-104G>C
|
rs149698681
|
0.01241
|
NM_213599.3(ANO5):c.*930C>T
|
rs78428314
|
0.01204
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_000232.5(SGCB):c.*1105A>G
|
rs77404139
|
0.01061
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_000232.5(SGCB):c.*724C>T
|
rs79282232
|
0.00971
|
NM_000337.5(SGCD):c.-179A>G
|
rs77808502
|
0.00918
|
NM_213599.3(ANO5):c.*1429A>G
|
rs78143145
|
0.00911
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_000231.3(SGCG):c.*10G>A
|
rs139369964
|
0.00794
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
NM_213599.3(ANO5):c.*3350T>G
|
rs144806967
|
0.00723
|
NM_000337.6(SGCD):c.*822C>T
|
rs78615220
|
0.00715
|
NM_213599.3(ANO5):c.*2357A>T
|
rs151218419
|
0.00715
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_001130987.2(DYSF):c.*267C>G
|
rs181677134
|
0.00625
|
NM_213599.3(ANO5):c.*2869A>G
|
rs115249135
|
0.00608
|
NM_000070.3(CAPN3):c.2381-12A>G
|
rs73402734
|
0.00578
|
NM_000232.5(SGCB):c.*2907T>C
|
rs138349341
|
0.00486
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
NM_000231.3(SGCG):c.*185G>A
|
rs115918628
|
0.00447
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_213599.3(ANO5):c.*1712T>C
|
rs530413127
|
0.00216
|
NM_000070.3(CAPN3):c.2264-11C>T
|
rs28364537
|
0.00195
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
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_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
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_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
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_000337.5(SGCD):c.-352T>C
|
rs727503419
|
0.00043
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
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_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000337.6(SGCD):c.-30G>A
|
rs374043017
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
|
rs151253841
|
0.00010
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_213599.3(ANO5):c.2139C>T (p.Thr713=)
|
rs767479331
|
0.00001
|
NM_000231.3(SGCG):c.*136T>A
|
rs3751372
|
|
NM_000231.3(SGCG):c.*136T>C
|
rs3751372
|
|
NM_000337.6(SGCD):c.*4340_*4341dup
|
rs556887176
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
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.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001267550.2(TTN):c.*99dup
|
rs11424072
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_213599.3(ANO5):c.*112_*113del
|
rs5790246
|
|
NM_213599.3(ANO5):c.*1762del
|
rs398015552
|
|
NM_213599.3(ANO5):c.*1890AAGA[1]
|
rs397786204
|
|
NM_213599.3(ANO5):c.*3481dup
|
rs147581685
|
|
NM_213599.3(ANO5):c.-217G>T
|
rs73479393
|
|
NM_213599.3(ANO5):c.138+10G>A
|
rs78987921
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
NM_213599.3(ANO5):c.364-8del
|
rs146983312
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|