NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)
|
rs7249826
|
1.00000
|
NM_001100.4(ACTA1):c.455-53A>C
|
rs527621
|
0.99850
|
NM_178554.6(KY):c.1251T>C (p.Phe417=)
|
rs4955535
|
0.99696
|
NM_032237.5(POMK):c.282+34C>A
|
rs5024011
|
0.99646
|
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)
|
rs4145333
|
0.99572
|
NM_001103.4(ACTN2):c.242-84G>A
|
rs1341865
|
0.99335
|
NM_001103.4(ACTN2):c.351T>C (p.Ile117=)
|
rs1341864
|
0.99334
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_000023.4(SGCA):c.37+66C>T
|
rs9911548
|
0.99075
|
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=)
|
rs2919360
|
0.99001
|
NM_004168.4(SDHA):c.1795-66C>T
|
rs387134
|
0.98913
|
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg)
|
rs1466685
|
0.98834
|
NM_004618.5(TOP3A):c.1282-21G>A
|
rs6502645
|
0.98602
|
NM_032578.4(MYPN):c.2886T>C (p.Val962=)
|
rs10733838
|
0.98443
|
NM_024854.5(PYROXD1):c.165+22G>C
|
rs4762702
|
0.98439
|
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=)
|
rs2562831
|
0.98238
|
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=)
|
rs2742348
|
0.98231
|
NM_016653.3(MAP3K20):c.670-11G>C
|
rs11899707
|
0.98158
|
NM_032578.4(MYPN):c.2703+17T>C
|
rs6480306
|
0.98057
|
NM_000070.3(CAPN3):c.*134C>T
|
rs3098423
|
0.97772
|
NM_001077365.2(POMT1):c.856-49T>G
|
rs4740163
|
0.97653
|
NM_018116.4(MSTO1):c.561-17A>G
|
rs1200697
|
0.97601
|
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)
|
rs6710212
|
0.97529
|
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp)
|
rs2131107
|
0.97526
|
NM_004393.6(DAG1):c.285+42T>C
|
rs2329024
|
0.97521
|
NM_032608.7(MYO18B):c.1641G>C (p.Trp547Cys)
|
rs3859866
|
0.97472
|
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=)
|
rs4894043
|
0.97302
|
NM_032608.7(MYO18B):c.1981T>C (p.Trp661Arg)
|
rs5761170
|
0.96944
|
NM_001199563.2(BVES):c.*114G>A
|
rs221657
|
0.96643
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
NM_005876.5(SPEG):c.9462-27C>T
|
rs907146
|
0.96294
|
NM_001130987.2(DYSF):c.3928-85G>T
|
rs1529408
|
0.96005
|
NM_003000.3(SDHB):c.201-36G>T
|
rs1022580
|
0.95416
|
NM_003000.3(SDHB):c.18C>A (p.Ala6=)
|
rs2746462
|
0.95374
|
NM_000426.4(LAMA2):c.381C>A (p.Thr127=)
|
rs4404787
|
0.95273
|
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)
|
rs1800280
|
0.95243
|
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)
|
rs7139095
|
0.95112
|
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)
|
rs6659553
|
0.94881
|
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)
|
rs1552280
|
0.94745
|
NM_001256545.2(MEGF10):c.1114C>T (p.Leu372=)
|
rs31483
|
0.94572
|
NM_002465.4(MYBPC1):c.1633+33T>C
|
rs1997204
|
0.94445
|
NM_001267550.2(TTN):c.4480+6C>T
|
rs719201
|
0.94227
|
NM_001103.4(ACTN2):c.448+73G>A
|
rs1341862
|
0.93228
|
NM_015602.4(TOR1AIP1):c.1503G>A (p.Ala501=)
|
rs627897
|
0.93133
|
NM_001103.4(ACTN2):c.378C>T (p.Asn126=)
|
rs1341863
|
0.93032
|
NM_213720.3(CHCHD10):c.261+11A>G
|
rs131444
|
0.92009
|
NM_001130987.2(DYSF):c.5885-16T>C
|
rs1863812
|
0.91575
|
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)
|
rs179468
|
0.91291
|
NM_182914.3(SYNE2):c.10697+29G>A
|
rs1255964
|
0.91279
|
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly)
|
rs1890908
|
0.91221
|
NM_000023.4(SGCA):c.*6T>C
|
rs2696288
|
0.91073
|
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)
|
rs10406027
|
0.90489
|
NM_000337.6(SGCD):c.*6717G>A
|
rs1827368
|
0.90216
|
NM_000540.3(RYR1):c.1441-24T>C
|
rs7254832
|
0.90133
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
NM_001382567.1(STIM1):c.1474+17C>G
|
rs2289570
|
0.89391
|
NM_001077365.2(POMT1):c.986+49G>A
|
rs10901066
|
0.88278
|
NM_001077365.2(POMT1):c.876T>C (p.Thr292=)
|
rs10901065
|
0.88277
|
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)
|
rs3739494
|
0.88273
|
NM_001077365.2(POMT1):c.428-21T>C
|
rs11243404
|
0.88267
|
NM_001077365.2(POMT1):c.700-48A>G
|
rs2018621
|
0.88264
|
NM_001077365.2(POMT1):c.699+53A>G
|
rs2296949
|
0.88248
|
NM_001848.3(COL6A1):c.1335+27A>C
|
rs2850173
|
0.88231
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
NM_001077365.2(POMT1):c.*41T>C
|
rs3739495
|
0.88174
|
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)
|
rs594012
|
0.87913
|
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn)
|
rs2291310
|
0.87769
|
NM_001848.3(COL6A1):c.2434+15A>G
|
rs2236485
|
0.87616
|
NM_182914.3(SYNE2):c.7183G>A (p.Ala2395Thr)
|
rs4027405
|
0.87610
|
NM_001199563.2(BVES):c.227-23G>A
|
rs4946656
|
0.87399
|
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met)
|
rs2291311
|
0.87338
|
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=)
|
rs7167612
|
0.87160
|
NM_001848.3(COL6A1):c.428+14A>G
|
rs3746993
|
0.87078
|
NM_001130987.2(DYSF):c.4626+43A>G
|
rs84182
|
0.87024
|
NM_001848.3(COL6A1):c.859-19A>G
|
rs2277814
|
0.86865
|
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)
|
rs2919359
|
0.86820
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_213595.4(ISCU):c.20T>G (p.Phe7Cys)
|
rs10778648
|
0.86086
|
NM_213595.4(ISCU):c.19T>G (p.Phe7Val)
|
rs10778647
|
0.86084
|
NM_001103.4(ACTN2):c.2526+33A>G
|
rs2282366
|
0.85706
|
NM_001130987.2(DYSF):c.4528-56A>G
|
rs84181
|
0.85683
|
NM_182961.4(SYNE1):c.17203-48G>A
|
rs4112833
|
0.85656
|
NM_001164508.2(NEB):c.294+52T>G
|
rs4664499
|
0.85425
|
NM_012470.4(TNPO3):c.1359-73G>A
|
rs1154329
|
0.85345
|
NM_004006.3(DMD):c.9649+15T>C
|
rs2293668
|
0.84201
|
NM_001077365.2(POMT1):c.1698+48C>G
|
rs2277152
|
0.84050
|
NM_001077365.2(POMT1):c.2003+13C>T
|
rs4740165
|
0.84044
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
NM_032608.7(MYO18B):c.5748+11A>G
|
rs2072007
|
0.83583
|
NM_000023.4(SGCA):c.312+83C>T
|
rs2696297
|
0.83281
|
NM_213599.3(ANO5):c.267T>C (p.Asp89=)
|
rs4312063
|
0.83210
|
NM_213599.3(ANO5):c.-136G>C
|
rs12792259
|
0.83191
|
NM_013382.7(POMT2):c.1383G>A (p.Arg461=)
|
rs2270419
|
0.82874
|
NM_001169109.2(SCO2):c.-14+522A>G
|
rs131805
|
0.82861
|
NM_025215.6(PUS1):c.303+89G>T
|
rs10902480
|
0.82359
|
NM_016474.5(CCDC174):c.308-55C>A
|
rs2276754
|
0.82289
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
NM_001849.4(COL6A2):c.1332+26A>G
|
rs3737362
|
0.82158
|
NM_013382.7(POMT2):c.1911T>G (p.Leu637=)
|
rs3209079
|
0.82113
|
NM_001130987.2(DYSF):c.1277-48A>G
|
rs4852800
|
0.81805
|
NM_152305.3(POGLUT1):c.457-25G>A
|
rs4688007
|
0.81781
|
NM_031229.4(RBCK1):c.168-242C>T
|
rs6115906
|
0.81688
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_016474.5(CCDC174):c.725-13A>G
|
rs2280383
|
0.81143
|
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)
|
rs6711382
|
0.81103
|
NM_001130987.2(DYSF):c.1034-68T>C
|
rs12713755
|
0.81086
|
NM_001849.4(COL6A2):c.1771-25A>G
|
rs2839113
|
0.81072
|
NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg)
|
rs123509
|
0.81037
|
NM_001130987.2(DYSF):c.1003-73A>G
|
rs11675897
|
0.81016
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=)
|
rs10151127
|
0.80823
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)
|
rs6781
|
0.80380
|
NM_182961.4(SYNE1):c.12352-39A>G
|
rs9479298
|
0.80324
|
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=)
|
rs604033
|
0.80050
|
NM_001130987.2(DYSF):c.5004-37C>T
|
rs2303599
|
0.79706
|
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)
|
rs7997
|
0.79357
|
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=)
|
rs31303
|
0.79100
|
NM_182961.4(SYNE1):c.1463+24G>T
|
rs4523096
|
0.78969
|
NM_001199563.2(BVES):c.351+30T>G
|
rs9404604
|
0.78922
|
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)
|
rs7349185
|
0.78899
|
NM_001164508.2(NEB):c.402+101A>G
|
rs4300824
|
0.78142
|
NM_001103.4(ACTN2):c.877-8C>G
|
rs2288601
|
0.77958
|
NM_000231.3(SGCG):c.703-53C>T
|
rs9510700
|
0.77702
|
NM_000070.3(CAPN3):c.1992+110T>C
|
rs3115883
|
0.77192
|
NM_001130987.2(DYSF):c.5785-41C>T
|
rs2559081
|
0.77107
|
NM_000070.3(CAPN3):c.1537-48T>C
|
rs2241827
|
0.76381
|
NM_004281.4(BAG3):c.1296A>G (p.Val432=)
|
rs196295
|
0.75935
|
NM_007126.5(VCP):c.1360-35A>G
|
rs2258240
|
0.75740
|
NM_001128227.3(GNE):c.51+34T>C
|
rs7875447
|
0.75717
|
NM_182914.3(SYNE2):c.7076G>A (p.Ser2359Asn)
|
rs4027404
|
0.75629
|
NM_007126.5(VCP):c.811+3G>A
|
rs514492
|
0.75591
|
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
NM_016213.5(TRIP4):c.1044-25G>A
|
rs2046356
|
0.74036
|
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)
|
rs760597
|
0.73933
|
NM_173660.5(DOK7):c.533-29A>G
|
rs2006791
|
0.73240
|
NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His)
|
rs8010911
|
0.72882
|
NM_182914.3(SYNE2):c.10213-43A>G
|
rs1255972
|
0.72793
|
NM_182914.3(SYNE2):c.6851C>T (p.Ala2284Val)
|
rs4027402
|
0.72784
|
NM_001130987.2(DYSF):c.1985-116T>C
|
rs2303597
|
0.72705
|
NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr)
|
rs4902264
|
0.72634
|
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
|
rs970547
|
0.72620
|
NM_182914.3(SYNE2):c.9744+41G>A
|
rs10138253
|
0.72582
|
NM_016653.3(MAP3K20):c.1360-28A>G
|
rs820008
|
0.72578
|
NM_031229.4(RBCK1):c.918-61A>G
|
rs2057251
|
0.72369
|
NM_213599.3(ANO5):c.*3178C>G
|
rs6483841
|
0.72187
|
NM_007078.3(LDB3):c.-24+8T>C
|
rs2803558
|
0.72185
|
NM_004006.3(DMD):c.1993-37T>G
|
rs115571
|
0.71699
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_182914.3(SYNE2):c.8824A>G (p.Ile2942Val)
|
rs3829767
|
0.71158
|
NM_004281.4(BAG3):c.910-21A>C
|
rs196294
|
0.70836
|
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu)
|
rs10497520
|
0.69988
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly)
|
rs228406
|
0.69509
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_002936.6(RNASEH1):c.409+34C>A
|
rs7563960
|
0.69067
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_020451.3(SELENON):c.1093-46C>A
|
rs760598
|
0.68499
|
NM_001130987.2(DYSF):c.1033+94G>T
|
rs11687223
|
0.68496
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_001130987.2(DYSF):c.1450-88A>G
|
rs4852802
|
0.67986
|
NM_001382567.1(STIM1):c.1138-25T>C
|
rs10767828
|
0.67780
|
NM_182914.3(SYNE2):c.591-45G>A
|
rs1255874
|
0.67518
|
NM_213599.3(ANO5):c.138+169G>A
|
rs4922980
|
0.67443
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)
|
rs1049434
|
0.66103
|
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)
|
rs2279516
|
0.65985
|
NM_213599.3(ANO5):c.*1286G>T
|
rs7925081
|
0.65457
|
NM_001164508.2(NEB):c.24580-81A>G
|
rs4664455
|
0.65048
|
NM_001164508.2(NEB):c.24766-18C>T
|
rs2288195
|
0.64910
|
NM_032578.4(MYPN):c.3286-28G>T
|
rs7079549
|
0.64847
|
NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln)
|
rs5761268
|
0.64830
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
NM_004370.6(COL12A1):c.7086+44C>G
|
rs499018
|
0.64589
|
NM_032578.4(MYPN):c.2565-21A>G
|
rs7097776
|
0.64504
|
NM_182961.4(SYNE1):c.19471-18C>T
|
rs6557210
|
0.64435
|
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)
|
rs2288888
|
0.64200
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_020451.3(SELENON):c.1282-41C>T
|
rs10902685
|
0.64052
|
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
|
rs2294228
|
0.64022
|
NM_001164508.2(NEB):c.20158-42G>A
|
rs2288201
|
0.63566
|
NM_005138.3(SCO2):c.633A>C (p.Ala211=)
|
rs12148
|
0.63421
|
NM_002465.4(MYBPC1):c.2222-38T>C
|
rs2254631
|
0.63203
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)
|
rs3745847
|
0.62871
|
NM_178554.6(KY):c.1665T>C (p.Leu555=)
|
rs2293293
|
0.62616
|
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=)
|
rs1056019
|
0.62528
|
NM_152263.4(TPM3):c.776-49T>C
|
rs4845364
|
0.62465
|
NM_001164508.2(NEB):c.1674+30T>G
|
rs6433569
|
0.62430
|
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)
|
rs4935
|
0.62369
|
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)
|
rs6709886
|
0.62301
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
NM_001164508.2(NEB):c.21840+82A>G
|
rs2288198
|
0.61992
|
NM_152328.5(ADSS1):c.*3A>G
|
rs6644
|
0.61061
|
NM_003673.4(TCAP):c.453A>C (p.Ala151=)
|
rs1053651
|
0.61044
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_001206641.3(COA6):c.47G>C (p.Ser16Thr)
|
rs10910420
|
0.60769
|
NM_001130987.2(DYSF):c.1449+13C>T
|
rs4852801
|
0.60553
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
NM_000540.3(RYR1):c.2943G>A (p.Thr981=)
|
rs2228069
|
0.60233
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser)
|
rs6805421
|
0.59704
|
NM_005198.5(CHKB):c.333+10G>T
|
rs86337
|
0.59693
|
NM_001164508.2(NEB):c.22162-108C>T
|
rs2288196
|
0.59579
|
NM_001164508.2(NEB):c.22800+32C>T
|
rs16830136
|
0.59551
|
NM_001130987.2(DYSF):c.3403-121G>C
|
rs3811611
|
0.59433
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg)
|
rs2071950
|
0.59279
|
NM_152328.5(ADSS1):c.585-42A>G
|
rs3803307
|
0.59250
|
NM_152305.3(POGLUT1):c.456+39G>T
|
rs3732419
|
0.59158
|
NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu)
|
rs133885
|
0.59120
|
NM_001164508.2(NEB):c.20368-57G>A
|
rs4664486
|
0.59006
|
NM_002206.3(ITGA7):c.2357+21A>G
|
rs7953669
|
0.58989
|
NM_002206.3(ITGA7):c.1282-11T>C
|
rs2293412
|
0.58963
|
NM_021942.6(TRAPPC11):c.2851+29C>G
|
rs12651215
|
0.58778
|
NM_032608.7(MYO18B):c.2786+39G>A
|
rs2331162
|
0.58745
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_032608.7(MYO18B):c.199-3C>T
|
rs133902
|
0.58447
|
NM_032608.7(MYO18B):c.2502T>C (p.Gly834=)
|
rs738643
|
0.58283
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
NM_032578.4(MYPN):c.1647T>C (p.Ser549=)
|
rs2673794
|
0.57747
|
NM_001130987.2(DYSF):c.2979+112A>C
|
rs10183967
|
0.57695
|
NM_080916.3(DGUOK):c.*13A>T
|
rs4777
|
0.57593
|
NM_182961.4(SYNE1):c.11580+15C>T
|
rs6908392
|
0.57402
|
NM_015602.4(TOR1AIP1):c.437T>C (p.Met146Thr)
|
rs1281378
|
0.57305
|
NM_002693.3(POLG):c.2071-22T>C
|
rs2072267
|
0.56891
|
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met)
|
rs10151658
|
0.56664
|
NM_001005361.3(DNM2):c.236-29C>G
|
rs3826803
|
0.56569
|
NM_001164508.2(NEB):c.20998-44A>C
|
rs3732310
|
0.56531
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
NM_213595.4(ISCU):c.35C>T (p.Ala12Val)
|
rs2287555
|
0.56452
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
NM_001164508.2(NEB):c.19731+103G>T
|
rs4575719
|
0.55813
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_002465.4(MYBPC1):c.*78G>A
|
rs2764
|
0.55606
|
NM_001164508.2(NEB):c.21522+78C>G
|
rs60806638
|
0.55600
|
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)
|
rs6558406
|
0.55590
|
NM_001378030.1(CCDC78):c.1302-53A>G
|
rs12599130
|
0.54951
|
NM_007126.5(VCP):c.1695+8A>G
|
rs684562
|
0.54947
|
NM_015602.4(TOR1AIP1):c.827C>G (p.Pro276Arg)
|
rs609521
|
0.54825
|
NM_058246.4(DNAJB6):c.-26-7C>T
|
rs3802100
|
0.54438
|
NM_001849.4(COL6A2):c.2462-35C>T
|
rs7279622
|
0.54180
|
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=)
|
rs6558405
|
0.54173
|
NM_001953.5(TYMP):c.516+27A>G
|
rs470119
|
0.54142
|
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)
|
rs7014582
|
0.54076
|
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=)
|
rs7822511
|
0.53938
|
NM_152490.5(B3GALNT2):c.321= (p.Glu107=)
|
rs291396
|
0.53906
|
NM_139343.3(BIN1):c.1002+163T>C
|
rs2276582
|
0.53506
|
NM_001159699.2(FHL1):c.737-8C>T
|
rs2076705
|
0.53498
|
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)
|
rs7833924
|
0.53335
|
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg)
|
rs55895668
|
0.53310
|
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)
|
rs4797
|
0.53290
|
NM_213599.3(ANO5):c.*496A>G
|
rs10766930
|
0.53080
|
NM_001397406.1(FDX2):c.45A>G (p.Leu15=)
|
rs395782
|
0.52486
|
NM_001161403.3(LIMS2):c.399G>A (p.Lys133=)
|
rs4662751
|
0.52377
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_001397406.1(FDX2):c.159T>G (p.Ala53=)
|
rs378395
|
0.52347
|
NM_182914.3(SYNE2):c.18390-48A>G
|
rs1152592
|
0.51946
|
NM_182961.4(SYNE1):c.3505-39A>C
|
rs502268
|
0.51916
|
NM_005138.3(SCO2):c.-78G>C
|
rs131806
|
0.51847
|
NM_013382.7(POMT2):c.1184-47A>C
|
rs2287387
|
0.51704
|
NM_000257.4(MYH7):c.-9+23T>C
|
rs2239578
|
0.51695
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_001164508.2(NEB):c.10452+71T>C
|
rs10186482
|
0.50955
|
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)
|
rs3749877
|
0.50817
|
NM_182914.3(SYNE2):c.19333+5C>T
|
rs1152590
|
0.50736
|
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)
|
rs3749878
|
0.50693
|
NM_001103.4(ACTN2):c.1107+33A>C
|
rs2288602
|
0.50667
|
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)
|
rs7819099
|
0.50384
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_000217.3(KCNA1):c.804G>C (p.Thr268=)
|
rs2227910
|
0.50318
|
NM_145868.2(ANXA11):c.858+45G>A
|
rs9421228
|
0.50220
|
NM_000426.4(LAMA2):c.5727-24T>A
|
rs3828735
|
0.50074
|
NM_000426.4(LAMA2):c.5727-22C>T
|
rs80125253
|
0.50051
|
NM_000426.4(LAMA2):c.5727-21T>G
|
rs76902576
|
0.50019
|
NM_001927.4(DES):c.579-38C>T
|
rs12991025
|
0.50005
|
NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=)
|
rs4241779
|
0.49989
|
NM_182961.4(SYNE1):c.9147-13G>A
|
rs214955
|
0.49738
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_002206.3(ITGA7):c.334+19A>G
|
rs2293413
|
0.49590
|
NM_024854.5(PYROXD1):c.881-39A>G
|
rs3825287
|
0.49534
|
NM_024854.5(PYROXD1):c.-44T>C
|
rs2058464
|
0.49506
|
NM_024854.5(PYROXD1):c.751-36T>C
|
rs7309539
|
0.49486
|
NM_024854.5(PYROXD1):c.994-10T>C
|
rs3782660
|
0.49485
|
NM_024854.5(PYROXD1):c.489-23A>G
|
rs2192183
|
0.49469
|
NM_024854.5(PYROXD1):c.650-38T>C
|
rs2302500
|
0.49466
|
NM_024854.5(PYROXD1):c.84+40C>A
|
rs2110165
|
0.49448
|
NM_001849.4(COL6A2):c.1116+32G>A
|
rs7279347
|
0.49217
|
NM_002206.3(ITGA7):c.1887+29G>A
|
rs7974721
|
0.49050
|
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=)
|
rs8043
|
0.49045
|
NM_182961.4(SYNE1):c.12795-12A>G
|
rs9478314
|
0.48867
|
NM_182961.4(SYNE1):c.8177+20A>T
|
rs214943
|
0.48837
|
NM_001130987.2(DYSF):c.1034-20G>A
|
rs12713756
|
0.48623
|
NM_002206.3(ITGA7):c.1952G>A (p.Arg651His)
|
rs1800974
|
0.48530
|
NM_182961.4(SYNE1):c.17346+38C>T
|
rs9371581
|
0.48251
|
NM_001256545.2(MEGF10):c.3387T>A (p.Gly1129=)
|
rs3812052
|
0.48209
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_002206.3(ITGA7):c.3184-12G>C
|
rs3852533
|
0.47439
|
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=)
|
rs2256191
|
0.47326
|
NM_182961.4(SYNE1):c.7713-49G>A
|
rs214944
|
0.47302
|
NM_002206.3(ITGA7):c.2004-19G>A
|
rs2293410
|
0.47288
|
NM_001378030.1(CCDC78):c.766-11G>A
|
rs4984921
|
0.47174
|
NM_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.46819
|
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)
|
rs2919358
|
0.46622
|
NM_001195518.2(MICU1):c.538-4A>G
|
rs3793927
|
0.46289
|
NM_201384.3(PLEC):c.1264-15G>A
|
rs7003580
|
0.45916
|
NM_001103.4(ACTN2):c.241+131C>T
|
rs2275399
|
0.45532
|
NM_182961.4(SYNE1):c.9651+47C>T
|
rs1873176
|
0.45478
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001849.4(COL6A2):c.928-19C>T
|
rs762438
|
0.45414
|
NM_000217.3(KCNA1):c.*9G>A
|
rs4766310
|
0.45248
|
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=)
|
rs2946642
|
0.45129
|
NM_031229.4(RBCK1):c.22+33C>T
|
rs3746792
|
0.44804
|
NM_000070.3(CAPN3):c.2381-79T>C
|
rs3115884
|
0.44779
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)
|
rs13046639
|
0.44460
|
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)
|
rs13052956
|
0.44458
|
NM_002693.3(POLG):c.3483-19T>G
|
rs2307438
|
0.44213
|
NM_182961.4(SYNE1):c.7029+45T>C
|
rs177330
|
0.43899
|
NM_000232.5(SGCB):c.244-21T>C
|
rs225170
|
0.43577
|
NM_145868.2(ANXA11):c.858+55G>A
|
rs2573348
|
0.43337
|
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=)
|
rs2304891
|
0.43325
|
NM_000231.3(SGCG):c.579-28T>G
|
rs1536727
|
0.42785
|
NM_145868.2(ANXA11):c.1335+15T>C
|
rs1079242
|
0.42648
|
NM_017534.6(MYH2):c.324A>G (p.Glu108=)
|
rs12600539
|
0.42634
|
NM_004370.6(COL12A1):c.5395-29G>A
|
rs1332020
|
0.42606
|
NM_005876.5(SPEG):c.2226G>A (p.Lys742=)
|
rs10932806
|
0.42459
|
NM_032578.4(MYPN):c.3075+21G>A
|
rs7081213
|
0.41962
|
NM_002936.6(RNASEH1):c.498A>G (p.Pro166=)
|
rs10186193
|
0.41265
|
NM_017534.6(MYH2):c.742-30A>C
|
rs11078849
|
0.40629
|
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
|
rs7079481
|
0.40619
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_004618.5(TOP3A):c.391-10C>T
|
rs7207123
|
0.39970
|
NM_017534.6(MYH2):c.904+10G>A
|
rs719277
|
0.39768
|
NM_017534.6(MYH2):c.2697+25A>G
|
rs3744565
|
0.39755
|
NM_000231.3(SGCG):c.579-32T>G
|
rs1536725
|
0.39650
|
NM_000337.6(SGCD):c.84T>C (p.Tyr28=)
|
rs1801193
|
0.39558
|
NM_001103.4(ACTN2):c.697+33G>A
|
rs819640
|
0.39452
|
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)
|
rs10823148
|
0.39447
|
NM_182914.3(SYNE2):c.12381+43T>C
|
rs9323444
|
0.39334
|
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn)
|
rs10997975
|
0.39270
|
NM_201384.3(PLEC):c.1815+13A>G
|
rs10866916
|
0.39200
|
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn)
|
rs7916821
|
0.39079
|
NM_016474.5(CCDC174):c.1176G>A (p.Pro392=)
|
rs1901
|
0.39015
|
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
NM_001135254.2(PAX7):c.879A>G (p.Pro293=)
|
rs2743201
|
0.38628
|
NM_024854.5(PYROXD1):c.*49A>G
|
rs12422251
|
0.38609
|
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg)
|
rs12464085
|
0.38593
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_182961.4(SYNE1):c.1351-24A>T
|
rs4331993
|
0.38135
|
NM_004168.4(SDHA):c.456+91G>C
|
rs12520059
|
0.38073
|
NM_139343.3(BIN1):c.1372-90C>T
|
rs6745677
|
0.38066
|
NM_017739.4(POMGNT1):c.1027-44A>G
|
rs7527668
|
0.37971
|
NM_005876.5(SPEG):c.8368A>G (p.Arg2790Gly)
|
rs55760516
|
0.37734
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)
|
rs1801187
|
0.36912
|
NM_032608.7(MYO18B):c.7040A>G (p.Gln2347Arg)
|
rs2236005
|
0.36742
|
NM_145868.2(ANXA11):c.859-62C>T
|
rs2236557
|
0.36135
|
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=)
|
rs4894029
|
0.35796
|
NM_012470.4(TNPO3):c.759C>G (p.Leu253=)
|
rs2305324
|
0.35727
|
NM_178554.6(KY):c.1593C>G (p.Gly531=)
|
rs2293294
|
0.35725
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.35628
|
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=)
|
rs2163009
|
0.35615
|
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=)
|
rs1560221
|
0.35601
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)
|
rs3813250
|
0.35546
|
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=)
|
rs2366751
|
0.35531
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)
|
rs2229850
|
0.35164
|
NM_001267550.2(TTN):c.97795+6G>T
|
rs3731750
|
0.35139
|
NM_001848.3(COL6A1):c.1462-36A>G
|
rs2276255
|
0.35129
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
NM_139343.3(BIN1):c.1573-128T>A
|
rs2071270
|
0.35075
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
NM_145868.2(ANXA11):c.1030-44A>C
|
rs2236558
|
0.34951
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_017739.4(POMGNT1):c.951-52A>G
|
rs7527935
|
0.34868
|
NM_017739.4(POMGNT1):c.1212-66T>C
|
rs2292484
|
0.34786
|
NM_017739.4(POMGNT1):c.1212-81C>T
|
rs2292485
|
0.34766
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_000540.3(RYR1):c.7926+28A>G
|
rs1469699
|
0.34603
|
NM_017534.6(MYH2):c.3263+15A>G
|
rs2277651
|
0.34231
|
NM_000426.4(LAMA2):c.3174+38A>G
|
rs902373
|
0.33937
|
NM_139343.3(BIN1):c.1132-126_1132-125dup
|
rs35339559
|
0.33588
|
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=)
|
rs2562838
|
0.33531
|
NM_182914.3(SYNE2):c.17202C>A (p.Leu5734=)
|
rs7161192
|
0.33500
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_139343.3(BIN1):c.412-25T>C
|
rs67327804
|
0.33319
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_004006.3(DMD):c.8027+11C>T
|
rs2270672
|
0.33026
|
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
|
rs1053312
|
0.32867
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_032608.7(MYO18B):c.3795G>A (p.Gly1265=)
|
rs5996988
|
0.32734
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_001267550.2(TTN):c.2244G>A (p.Glu748=)
|
rs6715406
|
0.32532
|
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
NM_031229.4(RBCK1):c.1029+39C>G
|
rs6051905
|
0.32396
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_003900.5(SQSTM1):c.755-23G>A
|
rs2241349
|
0.32312
|
NM_004006.3(DMD):c.2168+13T>C
|
rs228373
|
0.32216
|
NM_000540.3(RYR1):c.8816+17T>A
|
rs2915959
|
0.32203
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_000540.3(RYR1):c.8400+28A>G
|
rs2915953
|
0.32146
|
NM_000540.3(RYR1):c.8816+43A>C
|
rs2960346
|
0.32141
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
NM_002693.3(POLG):c.3105-36A>G
|
rs2246900
|
0.31986
|
NM_182914.3(SYNE2):c.2473-22T>G
|
rs1255908
|
0.31704
|
NM_000540.3(RYR1):c.8541+37T>G
|
rs2960343
|
0.31600
|
NM_000540.3(RYR1):c.8617-35C>T
|
rs2960344
|
0.31588
|
NM_000540.3(RYR1):c.8692+28T>G
|
rs2960345
|
0.31541
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_001267550.2(TTN):c.23099-3T>C
|
rs2562830
|
0.31174
|
NM_004618.5(TOP3A):c.2022-39C>A
|
rs6502644
|
0.31103
|
NM_000540.3(RYR1):c.8541+34C>T
|
rs2960342
|
0.31072
|
NM_152328.5(ADSS1):c.193-5122G>A
|
rs34672588
|
0.31059
|
NM_016653.3(MAP3K20):c.445-37A>G
|
rs2289399
|
0.30550
|
NM_139343.3(BIN1):c.698+10A>G
|
rs72481904
|
0.30545
|
NM_201384.3(PLEC):c.*10C>T
|
rs1065837
|
0.30524
|
NM_139343.3(BIN1):c.774+62G>A
|
rs2071268
|
0.30494
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_004393.6(DAG1):c.2256C>T (p.His752=)
|
rs1801143
|
0.30176
|
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=)
|
rs35916068
|
0.30160
|
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=)
|
rs2857829
|
0.29968
|
NM_201384.3(PLEC):c.4045-4A>G
|
rs7002152
|
0.29962
|
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His)
|
rs6558407
|
0.29956
|
NM_201384.3(PLEC):c.3757-6A>G
|
rs11136333
|
0.29944
|
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=)
|
rs7016416
|
0.29943
|
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=)
|
rs3135109
|
0.29936
|
NM_201384.3(PLEC):c.3840+48A>G
|
rs11782890
|
0.29923
|
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln)
|
rs11136334
|
0.29922
|
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=)
|
rs55836855
|
0.29922
|
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=)
|
rs11778026
|
0.29910
|
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val)
|
rs7002002
|
0.29901
|
NM_201384.3(PLEC):c.7426-35C>T
|
rs11786903
|
0.29882
|
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=)
|
rs11777402
|
0.29844
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=)
|
rs2562836
|
0.29823
|
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=)
|
rs56117011
|
0.29823
|
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=)
|
rs1140522
|
0.29794
|
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=)
|
rs6984820
|
0.29792
|
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=)
|
rs2562839
|
0.29759
|
NM_001164508.2(NEB):c.1675-67C>T
|
rs10193188
|
0.29744
|
NM_201384.3(PLEC):c.7425+37C>T
|
rs11786934
|
0.29669
|
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)
|
rs240736
|
0.29412
|
NM_001164508.2(NEB):c.5763+35T>C
|
rs12620077
|
0.29408
|
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr)
|
rs1427463
|
0.29359
|
NM_007215.4(POLG2):c.1110+44T>C
|
rs7223078
|
0.29352
|
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)
|
rs2293468
|
0.29320
|
NM_201384.3(PLEC):c.1095T>C (p.Asp365=)
|
rs11783799
|
0.29245
|
NM_201384.3(PLEC):c.1169+43T>A
|
rs11783772
|
0.29193
|
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=)
|
rs55646585
|
0.29155
|
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val)
|
rs11136336
|
0.29153
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_139343.3(BIN1):c.486T>C (p.Thr162=)
|
rs1060743
|
0.29063
|
NM_001164508.2(NEB):c.8160+84G>A
|
rs4664494
|
0.29054
|
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)
|
rs4685076
|
0.29043
|
NM_201384.3(PLEC):c.2923+37C>T
|
rs11136335
|
0.28946
|
NM_001080449.3(DNA2):c.507C>A (p.Ala169=)
|
rs3758626
|
0.28903
|
NM_004006.3(DMD):c.6614+26G>T
|
rs3761604
|
0.28231
|
NM_173660.5(DOK7):c.332-18T>C
|
rs2699425
|
0.28202
|
NM_000069.2(CACNA1S):c.-231A>G
|
rs4506487
|
0.28191
|
NM_001164508.2(NEB):c.19314+42C>T
|
rs2288206
|
0.27894
|
NM_001164508.2(NEB):c.18366+78T>C
|
rs7602715
|
0.27138
|
NM_001289808.2(CRYAB):c.324+4T>G
|
rs11603779
|
0.26871
|
NM_182961.4(SYNE1):c.130-25C>T
|
rs2141152
|
0.26785
|
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=)
|
rs2230154
|
0.26761
|
NM_003051.4(SLC16A1):c.362-21A>C
|
rs201021807
|
0.26702
|
NM_001164508.2(NEB):c.5763+281G>A
|
rs12616767
|
0.26661
|
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)
|
rs1027199
|
0.26612
|
NM_021942.6(TRAPPC11):c.2851+46G>A
|
rs62358033
|
0.26555
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
NM_001164508.2(NEB):c.16909-168C>T
|
rs3771901
|
0.26318
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_001164508.2(NEB):c.24393+60A>C
|
rs10497081
|
0.26227
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
NM_001164508.2(NEB):c.24874-47A>T
|
rs2288193
|
0.26026
|
NM_016653.3(MAP3K20):c.1032+39G>A
|
rs16861404
|
0.26026
|
NM_004614.5(TK2):c.-38A>G
|
rs3743716
|
0.25659
|
NM_005876.5(SPEG):c.7839G>A (p.Pro2613=)
|
rs875098
|
0.25609
|
NM_000426.4(LAMA2):c.3411+13G>A
|
rs3798663
|
0.25503
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
NM_005876.5(SPEG):c.9390G>T (p.Pro3130=)
|
rs12473286
|
0.25371
|
NM_001164508.2(NEB):c.25405-34T>C
|
rs16830090
|
0.25362
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu)
|
rs10755037
|
0.25298
|
NM_021942.6(TRAPPC11):c.2370C>T (p.Thr790=)
|
rs4862234
|
0.25098
|
NM_001164508.2(NEB):c.17535+90A>G
|
rs3732312
|
0.24731
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_001164508.2(NEB):c.18156+222T>A
|
rs12052998
|
0.24703
|
NM_182914.3(SYNE2):c.19857G>T (p.Leu6619=)
|
rs35648226
|
0.24610
|
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)
|
rs12139527
|
0.24484
|
NM_001267550.2(TTN):c.67637-17T>C
|
rs2288571
|
0.24363
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)
|
rs2645774
|
0.23421
|
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=)
|
rs12464787
|
0.23390
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=)
|
rs4915476
|
0.23047
|
NM_001267550.2(TTN):c.18029-19G>C
|
rs17076
|
0.22460
|
NM_002465.4(MYBPC1):c.1634-18del
|
rs3835190
|
0.22202
|
NM_178554.6(KY):c.87G>T (p.Thr29=)
|
rs13060869
|
0.22105
|
NM_004618.5(TOP3A):c.916-49G>A
|
rs2294913
|
0.21931
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
NM_001267550.2(TTN):c.57315T>C (p.His19105=)
|
rs35833641
|
0.21406
|
NM_145868.2(ANXA11):c.858+42C>T
|
rs3000941
|
0.21367
|
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln)
|
rs1800275
|
0.21153
|
NM_139343.3(BIN1):c.1674+56G>A
|
rs7568161
|
0.20707
|
NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser)
|
rs2627037
|
0.20680
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys)
|
rs2163008
|
0.20385
|
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)
|
rs764291
|
0.20383
|
NM_001164508.2(NEB):c.4611+70T>C
|
rs58903550
|
0.20373
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_139343.3(BIN1):c.858-12C>A
|
rs6720741
|
0.20254
|
NM_000337.6(SGCD):c.*3772dup
|
rs397841758
|
0.20069
|
NM_001164508.2(NEB):c.11289+99G>A
|
rs62174707
|
0.19979
|
NM_001130987.2(DYSF):c.460+150A>G
|
rs57229705
|
0.19499
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_000069.3(CACNA1S):c.4543+7G>A
|
rs2297905
|
0.19414
|
NM_004369.4(COL6A3):c.7092+26G>A
|
rs2270656
|
0.19247
|
NM_001130987.2(DYSF):c.3086-17G>A
|
rs3764971
|
0.18932
|
NM_001164508.2(NEB):c.5031+48A>G
|
rs4664496
|
0.18844
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
NM_001164508.2(NEB):c.8161-118A>T
|
rs35172004
|
0.18143
|
NM_007126.5(VCP):c.129+47G>A
|
rs10972300
|
0.17835
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
NM_001130987.2(DYSF):c.-30G>A
|
rs61333801
|
0.17633
|
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)
|
rs35813871
|
0.17564
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_024301.5(FKRP):c.-34C>T
|
rs3201779
|
0.17414
|
NM_016532.4(INPP5K):c.-60G>T
|
rs3815465
|
0.17124
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
NM_001267550.2(TTN):c.104988C>T (p.Val34996=)
|
rs3829748
|
0.16457
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_213599.3(ANO5):c.2520+25G>C
|
rs11026488
|
0.16418
|
NM_000023.4(SGCA):c.385+167A>G
|
rs11868160
|
0.16228
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn)
|
rs13390491
|
0.16202
|
NM_024334.3(TMEM43):c.883-47C>T
|
rs2731320
|
0.16071
|
NM_005476.7(GNE):c.1817-81G>C
|
rs2296817
|
0.15990
|
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)
|
rs1801188
|
0.15883
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
NM_001267052.2(UNC45B):c.808+39G>A
|
rs11869662
|
0.15718
|
NM_001040436.3(YARS2):c.*209G>C
|
rs10844337
|
0.15609
|
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)
|
rs2857265
|
0.15539
|
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)
|
rs3731748
|
0.15537
|
NM_000337.6(SGCD):c.*5863C>T
|
rs11953631
|
0.15411
|
NM_001130987.2(DYSF):c.1276+11C>T
|
rs35982795
|
0.15096
|
NM_000023.4(SGCA):c.313-39C>A
|
rs59944537
|
0.14899
|
NM_005262.3(GFER):c.456-83C>T
|
rs72766615
|
0.14880
|
NM_001130987.2(DYSF):c.2864+84G>C
|
rs62143855
|
0.14839
|
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)
|
rs3817552
|
0.14585
|
NM_014254.3(RXYLT1):c.*18C>G
|
rs1876465
|
0.14533
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_001267550.2(TTN):c.107681-46T>A
|
rs16866373
|
0.14513
|
NM_001077365.2(POMT1):c.1082+16G>A
|
rs59515295
|
0.14451
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
NM_001040436.3(YARS2):c.291C>T (p.Gly97=)
|
rs11539444
|
0.14354
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val)
|
rs11539445
|
0.14334
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_004614.5(TK2):c.619-53A>G
|
rs2241619
|
0.13547
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
NM_032608.7(MYO18B):c.9C>G (p.Ile3Met)
|
rs61734946
|
0.13255
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
NM_139343.3(BIN1):c.-27C>T
|
rs11554586
|
0.13209
|
NM_001130987.2(DYSF):c.1494-163G>T
|
rs79617374
|
0.13069
|
NM_000070.3(CAPN3):c.1194-26C>G
|
rs3743003
|
0.13055
|
NM_001130987.2(DYSF):c.1034-64C>T
|
rs55695728
|
0.12659
|
NM_001130987.2(DYSF):c.4221+96C>T
|
rs2016605
|
0.12613
|
NM_145868.2(ANXA11):c.1087-26A>G
|
rs2304410
|
0.12544
|
NM_001164508.2(NEB):c.7957-152C>T
|
rs28375835
|
0.12498
|
NM_000070.3(CAPN3):c.633-69G>A
|
rs4924675
|
0.12331
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_004006.3(DMD):c.6290+27T>A
|
rs3788896
|
0.12062
|
NM_001130987.2(DYSF):c.760-17C>T
|
rs61104194
|
0.11792
|
NM_001164508.2(NEB):c.12018+29G>A
|
rs11902616
|
0.11589
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
NM_003002.4(SDHD):c.315-32T>C
|
rs4151637
|
0.11444
|
NM_003002.4(SDHD):c.170-29A>G
|
rs9919624
|
0.11431
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)
|
rs13374149
|
0.11390
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
NM_145868.2(ANXA11):c.950-87C>G
|
rs34148644
|
0.10893
|
NM_145868.2(ANXA11):c.55+54G>A
|
rs75804987
|
0.10881
|
NM_145868.2(ANXA11):c.672T>C (p.Ile224=)
|
rs2228427
|
0.10871
|
NM_152328.5(ADSS1):c.579C>T (p.Ser193=)
|
rs12894569
|
0.10868
|
NM_145868.2(ANXA11):c.650-10C>G
|
rs34332933
|
0.10863
|
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=)
|
rs41267497
|
0.10778
|
NM_005876.5(SPEG):c.8059C>A (p.Pro2687Thr)
|
rs13026308
|
0.10397
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
NM_145868.2(ANXA11):c.1276+80G>T
|
rs112550067
|
0.10122
|
NM_213599.3(ANO5):c.*1521T>C
|
rs73483433
|
0.09970
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=)
|
rs2291312
|
0.09947
|
NM_000337.6(SGCD):c.*4092A>G
|
rs56389540
|
0.09897
|
NM_001130987.2(DYSF):c.889-104G>A
|
rs13417592
|
0.09831
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
NM_213599.3(ANO5):c.*1313A>G
|
rs73483432
|
0.09785
|
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=)
|
rs2228072
|
0.09736
|
NM_001164508.2(NEB):c.6184-14T>A
|
rs10173335
|
0.09664
|
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=)
|
rs16847674
|
0.09605
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
NM_182961.4(SYNE1):c.17202+24G>A
|
rs12662994
|
0.09437
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_001130987.2(DYSF):c.148-91C>T
|
rs35628632
|
0.09296
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
NM_001130987.2(DYSF):c.1149+54C>T
|
rs56343439
|
0.09198
|
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=)
|
rs6732060
|
0.09129
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
NM_000023.4(SGCA):c.933C>T (p.Val311=)
|
rs1801191
|
0.08920
|
NM_001130987.2(DYSF):c.4221+119A>G
|
rs1814333
|
0.08837
|
NM_000540.3(RYR1):c.7527G>A (p.Val2509=)
|
rs2071088
|
0.08780
|
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys)
|
rs3850625
|
0.08709
|
NM_000337.6(SGCD):c.*3650G>T
|
rs72803044
|
0.08674
|
NM_000426.4(LAMA2):c.156C>T (p.Ile52=)
|
rs1140366
|
0.08370
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
NM_001256007.3(PNPLA8):c.1358+16T>C
|
rs11971386
|
0.08285
|
NM_000337.6(SGCD):c.*3962G>A
|
rs56182215
|
0.08205
|
NM_000337.6(SGCD):c.*3687A>G
|
rs72803046
|
0.08194
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
NM_001130987.2(DYSF):c.239+20G>A
|
rs12470028
|
0.08061
|
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)
|
rs13398235
|
0.07839
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=)
|
rs2742343
|
0.06625
|
NM_145868.2(ANXA11):c.171+95A>G
|
rs2789689
|
0.06581
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
NM_000337.6(SGCD):c.*7300C>A
|
rs72803048
|
0.06455
|
NM_213599.3(ANO5):c.879-18T>C
|
rs7104758
|
0.06440
|
NC_000005.10:g.156326973A>T
|
rs7725121
|
0.06375
|
NM_001267550.2(TTN):c.38753T>C (p.Leu12918Ser)
|
rs2562847
|
0.06111
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
NM_001267550.2(TTN):c.29042-16G>A
|
rs10203085
|
0.05999
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)
|
rs3731744
|
0.05786
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)
|
rs3829749
|
0.05620
|
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=)
|
rs12993099
|
0.05590
|
NM_017739.4(POMGNT1):c.1895+30A>G
|
rs113174528
|
0.05532
|
NM_015602.4(TOR1AIP1):c.879A>C (p.Gln293His)
|
rs17279712
|
0.05445
|
NM_004006.3(DMD):c.4234-13A>G
|
rs41303181
|
0.05327
|
NM_015602.4(TOR1AIP1):c.964+17A>G
|
rs17370826
|
0.05277
|
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=)
|
rs55863869
|
0.05117
|
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=)
|
rs2742344
|
0.05063
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=)
|
rs2271477
|
0.05003
|
NM_213599.3(ANO5):c.*3152G>A
|
rs79486036
|
0.04921
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn)
|
rs2306636
|
0.04907
|
NM_001267550.2(TTN):c.13218C>T (p.Ala4406=)
|
rs1883084
|
0.04879
|
NM_001267550.2(TTN):c.13594A>C (p.Thr4532Pro)
|
rs2562829
|
0.04828
|
NM_001267550.2(TTN):c.13800A>C (p.Leu4600Phe)
|
rs1883085
|
0.04810
|
NM_001267550.2(TTN):c.12255T>C (p.Ile4085=)
|
rs2742357
|
0.04800
|
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)
|
rs2291308
|
0.04799
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
NM_000023.4(SGCA):c.37+23G>A
|
rs79410682
|
0.04614
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
NM_000070.3(CAPN3):c.498+35G>T
|
rs28364399
|
0.04397
|
NM_001267550.2(TTN):c.26200+19A>T
|
rs2562837
|
0.04396
|
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=)
|
rs2742332
|
0.04384
|
NM_001130987.2(DYSF):c.3575-17C>T
|
rs13421969
|
0.04340
|
NM_001130987.2(DYSF):c.1807-24C>G
|
rs2303595
|
0.04339
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_017739.4(POMGNT1):c.235+33T>G
|
rs41309197
|
0.04222
|
NM_145868.2(ANXA11):c.572G>A (p.Arg191Gln)
|
rs2229554
|
0.04181
|
NM_213599.3(ANO5):c.*3121A>G
|
rs35827261
|
0.04156
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)
|
rs112723255
|
0.04015
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
NM_145868.2(ANXA11):c.1181-5C>T
|
rs75810295
|
0.03958
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=)
|
rs41274330
|
0.03876
|
NM_000069.3(CACNA1S):c.2746-14C>T
|
rs113792034
|
0.03828
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
NM_002465.4(MYBPC1):c.3492+39C>T
|
rs35621105
|
0.03732
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
NM_000070.3(CAPN3):c.1746-64C>T
|
rs17764849
|
0.03691
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly)
|
rs12406479
|
0.03481
|
NM_001267550.2(TTN):c.37705G>A (p.Val12569Ile)
|
rs568086259
|
0.03479
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_001130987.2(DYSF):c.889-68G>A
|
rs28500662
|
0.03261
|
NM_001267550.2(TTN):c.65575+19T>G
|
rs72646865
|
0.03204
|
NM_145868.2(ANXA11):c.390C>T (p.Gly130=)
|
rs35694404
|
0.03162
|
NM_001130987.2(DYSF):c.460+82C>T
|
rs79084610
|
0.03125
|
NM_213599.3(ANO5):c.1898+29G>T
|
rs76084798
|
0.02917
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=)
|
rs16847623
|
0.02892
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)
|
rs73973133
|
0.02781
|
NM_017739.4(POMGNT1):c.1111-23C>T
|
rs2292486
|
0.02728
|
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=)
|
rs16847669
|
0.02707
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_000069.3(CACNA1S):c.1393+7C>T
|
rs3767512
|
0.02512
|
NM_145868.2(ANXA11):c.1458+77C>T
|
rs12775374
|
0.02483
|
NM_145868.2(ANXA11):c.1335+94A>G
|
rs12767142
|
0.02481
|
NM_001130987.2(DYSF):c.4222-20G>A
|
rs111935215
|
0.02442
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
NM_000069.3(CACNA1S):c.2063+7G>T
|
rs79984703
|
0.02430
|
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His)
|
rs2562832
|
0.02406
|
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=)
|
rs2742329
|
0.02401
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
NM_000337.6(SGCD):c.*7596A>G
|
rs80115276
|
0.02244
|
NM_000337.6(SGCD):c.700-19T>C
|
rs80086857
|
0.02231
|
NC_000002.12:g.178535859A>G
|
rs202214630
|
0.02222
|
NM_001267550.2(TTN):c.36203-9T>C
|
rs2562849
|
0.02192
|
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=)
|
rs2742354
|
0.02192
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=)
|
rs35339227
|
0.02168
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
NM_001130987.2(DYSF):c.2410-117A>G
|
rs72827550
|
0.02151
|
NM_213599.3(ANO5):c.1120-24A>T
|
rs11026476
|
0.02147
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=)
|
rs55895721
|
0.02109
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=)
|
rs2115557
|
0.02057
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
NM_000069.3(CACNA1S):c.2748C>T (p.His916=)
|
rs2297902
|
0.02034
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
NM_000337.6(SGCD):c.295-40T>A
|
rs74571343
|
0.01950
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
NM_000069.3(CACNA1S):c.-83C>T
|
rs116071603
|
0.01915
|
NM_001130987.2(DYSF):c.889-34C>T
|
rs115184725
|
0.01903
|
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=)
|
rs56183942
|
0.01893
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)
|
rs200021871
|
0.01863
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
0.01832
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)
|
rs57389274
|
0.01798
|
NM_005138.2(SCO2):c.-142G>C
|
rs145052206
|
0.01794
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
NM_001267550.2(TTN):c.37202-4T>C
|
rs202032281
|
0.01693
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=)
|
rs535294541
|
0.01666
|
NM_145868.2(ANXA11):c.171+19C>T
|
rs12269637
|
0.01660
|
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=)
|
rs61734621
|
0.01658
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
NM_000069.3(CACNA1S):c.3796-9G>A
|
rs142184434
|
0.01603
|
NM_000069.3(CACNA1S):c.3525+18C>T
|
rs56021911
|
0.01583
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
NM_001267550.2(TTN):c.2781A>C (p.Thr927=)
|
rs55892860
|
0.01493
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
NM_001267550.2(TTN):c.40141+7G>A
|
rs77960621
|
0.01470
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01345
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_001040436.3(YARS2):c.*191T>C
|
rs144235100
|
0.01314
|
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser)
|
rs201474544
|
0.01309
|
NM_000337.6(SGCD):c.*3898C>T
|
rs74717343
|
0.01308
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
NM_145868.2(ANXA11):c.456C>T (p.Tyr152=)
|
rs34003188
|
0.01293
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_000070.3(CAPN3):c.-104G>C
|
rs149698681
|
0.01241
|
NM_000069.3(CACNA1S):c.3053+13T>C
|
rs41267501
|
0.01237
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu)
|
rs72650053
|
0.01188
|
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val)
|
rs55853696
|
0.01185
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
NM_001267550.2(TTN):c.100766-9C>T
|
rs77483833
|
0.01165
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01140
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
NM_001040436.3(YARS2):c.*162A>G
|
rs11052215
|
0.01096
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01080
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01069
|
NM_000069.3(CACNA1S):c.3953+6C>T
|
rs115707724
|
0.01059
|
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr)
|
rs61238538
|
0.01045
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
NM_015602.4(TOR1AIP1):c.909T>C (p.Asn303=)
|
rs115742637
|
0.01001
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=)
|
rs148729348
|
0.00975
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)
|
rs115750596
|
0.00971
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)
|
rs11896779
|
0.00966
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
NC_000005.10:g.156327097A>G
|
rs77808502
|
0.00918
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
NM_000023.4(SGCA):c.528C>T (p.Thr176=)
|
rs1801190
|
0.00912
|
NM_213599.3(ANO5):c.*1429A>G
|
rs78143145
|
0.00911
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)
|
rs142356235
|
0.00873
|
NM_001130987.2(DYSF):c.3228+208A>C
|
rs143560409
|
0.00838
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
NM_001267550.2(TTN):c.33340+10T>C
|
rs72650039
|
0.00830
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)
|
rs10185798
|
0.00826
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His)
|
rs35856559
|
0.00797
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
NM_001267550.2(TTN):c.37722T>C (p.Val12574=)
|
rs377422414
|
0.00745
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser)
|
rs138144479
|
0.00727
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
NM_000337.6(SGCD):c.*822C>T
|
rs78615220
|
0.00715
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00714
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=)
|
rs72648979
|
0.00702
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=)
|
rs72648977
|
0.00701
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)
|
rs76815324
|
0.00667
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_000069.3(CACNA1S):c.2361-13C>T
|
rs2182117
|
0.00658
|
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=)
|
rs16847664
|
0.00657
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_001267550.2(TTN):c.53288-18G>T
|
rs72646810
|
0.00643
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_001040436.3(YARS2):c.1103+18T>C
|
rs190343859
|
0.00622
|
NM_000023.4(SGCA):c.*10C>G
|
rs60300808
|
0.00619
|
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr)
|
rs138144724
|
0.00615
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp)
|
rs113231696
|
0.00597
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_000069.3(CACNA1S):c.399-14C>T
|
rs116534514
|
0.00590
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
NM_000069.3(CACNA1S):c.4668+19T>C
|
rs140742077
|
0.00573
|
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)
|
rs33971253
|
0.00570
|
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)
|
rs113391261
|
0.00559
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_000069.3(CACNA1S):c.-68T>C
|
rs140748567
|
0.00558
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)
|
rs35495899
|
0.00555
|
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=)
|
rs112868209
|
0.00555
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)
|
rs146136277
|
0.00524
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_000069.3(CACNA1S):c.*310A>T
|
rs190783634
|
0.00503
|
NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe)
|
rs186232617
|
0.00502
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=)
|
rs143483718
|
0.00479
|
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile)
|
rs80136515
|
0.00471
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_000069.3(CACNA1S):c.2745+14C>T
|
rs74138824
|
0.00464
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=)
|
rs13376324
|
0.00448
|
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)
|
rs114267234
|
0.00446
|
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)
|
rs78269740
|
0.00443
|
NM_001128227.3(GNE):c.51+63A>G
|
rs185045598
|
0.00436
|
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=)
|
rs116378128
|
0.00419
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_000069.3(CACNA1S):c.3953+7G>A
|
rs141071505
|
0.00409
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
NM_001267550.2(TTN):c.13706G>A (p.Ser4569Asn)
|
rs115532048
|
0.00405
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
NM_001040436.3(YARS2):c.342C>T (p.Gly114=)
|
rs115606831
|
0.00371
|
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His)
|
rs79466278
|
0.00365
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
NM_000069.3(CACNA1S):c.-60A>G
|
rs145803564
|
0.00349
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn)
|
rs78535378
|
0.00334
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00307
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
NM_000337.6(SGCD):c.*158G>A
|
rs187465743
|
0.00253
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_000023.4(SGCA):c.-8G>A
|
rs149296410
|
0.00248
|
NM_000337.6(SGCD):c.*8110A>C
|
rs796540027
|
0.00245
|
NM_000337.6(SGCD):c.699+71G>A
|
rs187204080
|
0.00245
|
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00241
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00241
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_000069.3(CACNA1S):c.5134+8C>T
|
rs114243233
|
0.00238
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_000069.3(CACNA1S):c.2227+15G>A
|
rs192276596
|
0.00236
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)
|
rs146976883
|
0.00233
|
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
|
rs114191482
|
0.00228
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00215
|
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn)
|
rs149690630
|
0.00215
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
|
rs72749169
|
0.00210
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
0.00208
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu)
|
rs370765948
|
0.00197
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
NM_000337.6(SGCD):c.*2604T>C
|
rs541571525
|
0.00187
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_213599.3(ANO5):c.1095A>G (p.Leu365=)
|
rs35804601
|
0.00183
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)
|
rs138423302
|
0.00170
|
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
NM_001267550.2(TTN):c.30598+15C>T
|
rs79685525
|
0.00156
|
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu)
|
rs200815663
|
0.00154
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_000337.6(SGCD):c.*3845T>C
|
rs528838126
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
NM_001267550.2(TTN):c.48460+8C>T
|
rs2288565
|
0.00137
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
NM_000337.6(SGCD):c.*6065A>G
|
rs183129118
|
0.00130
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)
|
rs201797790
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala)
|
rs6433728
|
0.00124
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00124
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)
|
rs371819104
|
0.00122
|
NM_000069.3(CACNA1S):c.5371-19C>T
|
rs201064986
|
0.00121
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_015602.4(TOR1AIP1):c.576G>A (p.Arg192=)
|
rs146164995
|
0.00116
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
NM_001267550.2(TTN):c.33581-18T>C
|
rs148392677
|
0.00113
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_213599.3(ANO5):c.2521-7C>T
|
rs201438159
|
0.00109
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)
|
rs376917681
|
0.00102
|
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=)
|
rs150520884
|
0.00100
|
NM_001267550.2(TTN):c.76523C>A (p.Pro25508Gln)
|
rs188085512
|
0.00100
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00097
|
NM_000069.3(CACNA1S):c.5370+10G>A
|
rs368138384
|
0.00096
|
NM_000337.6(SGCD):c.*8356T>A
|
rs576236693
|
0.00096
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_000069.3(CACNA1S):c.900+14C>T
|
rs377170574
|
0.00093
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=)
|
rs193191368
|
0.00088
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001267550.2(TTN):c.2775+4G>A
|
rs548681281
|
0.00086
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
NM_000337.6(SGCD):c.*4993A>C
|
rs62382385
|
0.00084
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)
|
rs200049911
|
0.00081
|
NM_001267550.2(TTN):c.36701-16A>G
|
rs577899845
|
0.00081
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)
|
rs373842558
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=)
|
rs34374418
|
0.00076
|
NM_000069.3(CACNA1S):c.4114-8T>C
|
rs373675720
|
0.00076
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
NM_000069.3(CACNA1S):c.4338+13G>T
|
rs370782181
|
0.00075
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro)
|
rs139373152
|
0.00073
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_001130987.2(DYSF):c.3228+205C>A
|
rs149264392
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)
|
rs367577681
|
0.00070
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
NM_015602.4(TOR1AIP1):c.428C>T (p.Ser143Phe)
|
rs141391430
|
0.00068
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
NM_000069.3(CACNA1S):c.3796-11C>T
|
rs369565379
|
0.00061
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
NC_000002.12:g.178618858T>C
|
rs182706301
|
0.00059
|
NM_000069.3(CACNA1S):c.1948+10C>G
|
rs201173419
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_000337.6(SGCD):c.*4608G>A
|
rs541428502
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_000337.6(SGCD):c.*6833G>A
|
rs137998497
|
0.00056
|
NM_001267550.2(TTN):c.32011+10C>G
|
rs192002980
|
0.00056
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)
|
rs148680317
|
0.00055
|
NM_001267550.2(TTN):c.44548+9A>G
|
rs372725070
|
0.00055
|
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)
|
rs144218745
|
0.00054
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=)
|
rs141808465
|
0.00053
|
NM_000337.6(SGCD):c.*5907T>C
|
rs766068819
|
0.00053
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_001267550.2(TTN):c.50994T>C (p.Ser16998=)
|
rs752023426
|
0.00053
|
NM_213599.3(ANO5):c.2029+19T>G
|
rs374035760
|
0.00052
|
NM_000069.3(CACNA1S):c.4339-14G>A
|
rs200570483
|
0.00051
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
NC_000002.12:g.178611280T>G
|
rs146208555
|
0.00046
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000337.6(SGCD):c.*5591G>A
|
rs746078886
|
0.00046
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)
|
rs146136274
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
NM_001267550.2(TTN):c.94464T>C (p.Ala31488=)
|
rs138888307
|
0.00041
|
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer)
|
rs145521179
|
0.00041
|
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=)
|
rs150962971
|
0.00038
|
NM_000337.6(SGCD):c.*440G>A
|
rs535200914
|
0.00038
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00038
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
NM_001267550.2(TTN):c.12024C>T (p.Leu4008=)
|
rs371694842
|
0.00037
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_004006.3(DMD):c.1095A>C (p.Gln365His)
|
rs1800266
|
0.00035
|
NM_015602.4(TOR1AIP1):c.965-10del
|
rs769057969
|
0.00035
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
NM_000069.3(CACNA1S):c.1948+18G>A
|
rs113175669
|
0.00031
|
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
|
rs370105333
|
0.00031
|
NM_000069.3(CACNA1S):c.2361-11C>T
|
rs376279583
|
0.00030
|
NM_000069.3(CACNA1S):c.542-13C>T
|
rs199502458
|
0.00030
|
NM_000337.6(SGCD):c.*6186C>T
|
rs559185520
|
0.00030
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)
|
rs190021597
|
0.00029
|
NM_001267550.2(TTN):c.52008C>G (p.Val17336=)
|
rs144507270
|
0.00029
|
NM_000337.6(SGCD):c.*7559G>C
|
rs751653849
|
0.00028
|
NM_001267550.2(TTN):c.38378A>G (p.Lys12793Arg)
|
rs189389531
|
0.00028
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000337.6(SGCD):c.*2797A>T
|
rs771116351
|
0.00027
|
NM_000337.6(SGCD):c.193-17T>G
|
rs201079829
|
0.00027
|
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=)
|
rs369467841
|
0.00027
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)
|
rs200487405
|
0.00026
|
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)
|
rs148273582
|
0.00026
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_000069.3(CACNA1S):c.2657+9C>T
|
rs375784883
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=)
|
rs148105111
|
0.00023
|
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)
|
rs4915212
|
0.00022
|
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)
|
rs141717649
|
0.00022
|
NM_000069.3(CACNA1S):c.2657+10G>A
|
rs371339601
|
0.00022
|
NM_000069.3(CACNA1S):c.1949-7C>T
|
rs368564115
|
0.00021
|
NM_000337.6(SGCD):c.*5337G>A
|
rs144968734
|
0.00021
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
NM_000337.6(SGCD):c.*7231A>T
|
rs766236284
|
0.00020
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00020
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)
|
rs142907833
|
0.00019
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
NM_000069.3(CACNA1S):c.258+6A>G
|
rs376899610
|
0.00016
|
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)
|
rs147646714
|
0.00016
|
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=)
|
rs757432785
|
0.00016
|
NM_000337.6(SGCD):c.*1856A>T
|
rs886060295
|
0.00016
|
NM_000337.6(SGCD):c.-404G>A
|
rs192662989
|
0.00016
|
NM_000337.6(SGCD):c.817C>T (p.Leu273=)
|
rs375029639
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
0.00016
|
NM_001267550.2(TTN):c.37956G>T (p.Val12652=)
|
rs541757326
|
0.00016
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)
|
rs375403439
|
0.00016
|
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)
|
rs138189035
|
0.00015
|
NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro)
|
rs373049289
|
0.00015
|
NM_015602.4(TOR1AIP1):c.838+3A>G
|
rs139072070
|
0.00015
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)
|
rs377474103
|
0.00014
|
NM_000337.6(SGCD):c.*1719G>A
|
rs886060293
|
0.00014
|
NM_000337.6(SGCD):c.*3779T>C
|
rs886060302
|
0.00014
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)
|
rs771843862
|
0.00014
|
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=)
|
rs587780978
|
0.00014
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000023.4(SGCA):c.981C>T (p.Ser327=)
|
rs368522117
|
0.00013
|
NM_000069.3(CACNA1S):c.2906+17G>A
|
rs202089480
|
0.00013
|
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=)
|
rs200935259
|
0.00013
|
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)
|
rs143933255
|
0.00013
|
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)
|
rs146696748
|
0.00013
|
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=)
|
rs368173398
|
0.00013
|
NM_000337.6(SGCD):c.*753C>T
|
rs543082767
|
0.00013
|
NM_000337.6(SGCD):c.3+20G>A
|
rs187786098
|
0.00013
|
NM_000337.6(SGCD):c.755C>T (p.Thr252Met)
|
rs199520526
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)
|
rs371730757
|
0.00013
|
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)
|
rs773886758
|
0.00013
|
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=)
|
rs779996703
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000337.6(SGCD):c.*6127G>A
|
rs527412372
|
0.00012
|
NM_000337.6(SGCD):c.*8380A>G
|
rs556296196
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr)
|
rs150137596
|
0.00012
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)
|
rs192464868
|
0.00012
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)
|
rs370861322
|
0.00011
|
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys)
|
rs756612471
|
0.00011
|
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)
|
rs771865391
|
0.00011
|
NM_000069.3(CACNA1S):c.3415-13G>T
|
rs755431424
|
0.00011
|
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln)
|
rs200042281
|
0.00011
|
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)
|
rs145340252
|
0.00011
|
NM_000069.3(CACNA1S):c.5227-20C>T
|
rs377205612
|
0.00011
|
NM_000069.3(CACNA1S):c.900+17G>A
|
rs373839474
|
0.00011
|
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)
|
rs773209639
|
0.00011
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_000337.6(SGCD):c.*2139C>T
|
rs889080445
|
0.00011
|
NM_000337.6(SGCD):c.*5467G>C
|
rs749139391
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His)
|
rs139364730
|
0.00011
|
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=)
|
rs189129662
|
0.00010
|
NM_000069.3(CACNA1S):c.1949-6G>A
|
rs373698107
|
0.00010
|
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=)
|
rs147076871
|
0.00010
|
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)
|
rs183195890
|
0.00010
|
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg)
|
rs540721779
|
0.00010
|
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=)
|
rs367685667
|
0.00010
|
NM_000337.6(SGCD):c.3+11C>T
|
rs374790317
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
NM_001267550.2(TTN):c.2151C>T (p.Pro717=)
|
rs374570732
|
0.00010
|
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00010
|
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)
|
rs143365858
|
0.00009
|
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)
|
rs148132791
|
0.00009
|
NM_000069.3(CACNA1S):c.1151-18T>C
|
rs112628416
|
0.00009
|
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=)
|
rs145689664
|
0.00009
|
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=)
|
rs550584336
|
0.00009
|
NM_000069.3(CACNA1S):c.3525+7del
|
rs759199210
|
0.00009
|
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=)
|
rs376781102
|
0.00009
|
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp)
|
rs753684563
|
0.00009
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)
|
rs542575761
|
0.00009
|
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=)
|
rs369466156
|
0.00009
|
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=)
|
rs377442695
|
0.00009
|
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)
|
rs531445644
|
0.00009
|
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His)
|
rs145065164
|
0.00009
|
NM_000069.3(CACNA1S):c.2361-10G>A
|
rs533238983
|
0.00008
|
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=)
|
rs200898535
|
0.00008
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000337.6(SGCD):c.*1047C>T
|
rs999149586
|
0.00008
|
NM_000337.6(SGCD):c.*7298A>C
|
rs886060321
|
0.00008
|
NM_000337.6(SGCD):c.*7507A>G
|
rs75641902
|
0.00008
|
NM_000337.6(SGCD):c.-59G>A
|
rs375477247
|
0.00008
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)
|
rs587780985
|
0.00008
|
NM_001267550.2(TTN):c.33742+8C>T
|
rs375939001
|
0.00008
|
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)
|
rs201023108
|
0.00008
|
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys)
|
rs377110579
|
0.00008
|
NM_000023.4(SGCA):c.312+6G>A
|
rs371433770
|
0.00007
|
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)
|
rs117672945
|
0.00007
|
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)
|
rs746698767
|
0.00007
|
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile)
|
rs572977674
|
0.00007
|
NM_000069.3(CACNA1S):c.1619+9C>T
|
rs372942667
|
0.00007
|
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys)
|
rs200165212
|
0.00007
|
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)
|
rs371818752
|
0.00007
|
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=)
|
rs373033092
|
0.00007
|
NM_000069.3(CACNA1S):c.3796-14C>T
|
rs377210987
|
0.00007
|
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)
|
rs751405561
|
0.00007
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)
|
rs753176482
|
0.00007
|
NM_001164508.2(NEB):c.2475C>T (p.Asp825=)
|
rs180881237
|
0.00007
|
NM_001267550.2(TTN):c.104205G>A (p.Thr34735=)
|
rs752424146
|
0.00007
|
NM_001267550.2(TTN):c.28359C>T (p.His9453=)
|
rs372238447
|
0.00007
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
NM_001267550.2(TTN):c.561G>A (p.Ser187=)
|
rs141444282
|
0.00007
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
NM_001267550.2(TTN):c.76854A>G (p.Val25618=)
|
rs192902075
|
0.00007
|
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His)
|
rs745350340
|
0.00007
|
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)
|
rs766855169
|
0.00006
|
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)
|
rs200075504
|
0.00006
|
NM_000023.4(SGCA):c.657C>T (p.His219=)
|
rs747684069
|
0.00006
|
NM_000069.3(CACNA1S):c.1393+16G>A
|
rs374866886
|
0.00006
|
NM_000069.3(CACNA1S):c.1619+10G>A
|
rs374195664
|
0.00006
|
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=)
|
rs201748367
|
0.00006
|
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=)
|
rs61734612
|
0.00006
|
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=)
|
rs528604695
|
0.00006
|
NM_000069.3(CACNA1S):c.2491-20C>T
|
rs200340608
|
0.00006
|
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met)
|
rs200224590
|
0.00006
|
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=)
|
rs200893062
|
0.00006
|
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)
|
rs80338782
|
0.00006
|
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)
|
rs189797100
|
0.00006
|
NM_000069.3(CACNA1S):c.3796-13G>A
|
rs374572342
|
0.00006
|
NM_000069.3(CACNA1S):c.3953+16C>T
|
rs201874906
|
0.00006
|
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)
|
rs149036408
|
0.00006
|
NM_000069.3(CACNA1S):c.4669-11G>A
|
rs376672151
|
0.00006
|
NM_000337.6(SGCD):c.*1990C>T
|
rs558206035
|
0.00006
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser)
|
rs758527900
|
0.00006
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly)
|
rs75458912
|
0.00006
|
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)
|
rs761409144
|
0.00006
|
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)
|
rs397517684
|
0.00006
|
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=)
|
rs185660043
|
0.00006
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=)
|
rs762103106
|
0.00006
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00006
|
NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr)
|
rs768257163
|
0.00006
|
NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val)
|
rs376697448
|
0.00006
|
NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys)
|
rs749592068
|
0.00006
|
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=)
|
rs763572841
|
0.00006
|
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)
|
rs200945974
|
0.00005
|
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu)
|
rs756131999
|
0.00005
|
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile)
|
rs139860737
|
0.00005
|
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=)
|
rs376863448
|
0.00005
|
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu)
|
rs374324813
|
0.00005
|
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)
|
rs765581827
|
0.00005
|
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=)
|
rs372633174
|
0.00005
|
NM_000231.3(SGCG):c.101G>A (p.Arg34His)
|
rs755404457
|
0.00005
|
NM_000337.6(SGCD):c.*5884A>G
|
rs760303963
|
0.00005
|
NM_001267550.2(TTN):c.105085T>C (p.Leu35029=)
|
rs374678473
|
0.00005
|
NM_001267550.2(TTN):c.11811T>C (p.Pro3937=)
|
rs571602215
|
0.00005
|
NM_001267550.2(TTN):c.14935+9C>T
|
rs544241749
|
0.00005
|
NM_001267550.2(TTN):c.2280C>T (p.Val760=)
|
rs727505021
|
0.00005
|
NM_001267550.2(TTN):c.31227T>G (p.Val10409=)
|
rs748539440
|
0.00005
|
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=)
|
rs139054950
|
0.00005
|
NM_001267550.2(TTN):c.51739+14C>A
|
rs727505018
|
0.00005
|
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)
|
rs755839294
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_001267550.2(TTN):c.9519C>T (p.Asp3173=)
|
rs151129843
|
0.00005
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met)
|
rs376847458
|
0.00005
|
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)
|
rs200495464
|
0.00005
|
NM_000023.4(SGCA):c.1155C>T (p.Asp385=)
|
rs183964744
|
0.00004
|
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys)
|
rs538696245
|
0.00004
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu)
|
rs201737381
|
0.00004
|
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=)
|
rs747075757
|
0.00004
|
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=)
|
rs188071541
|
0.00004
|
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr)
|
rs575247457
|
0.00004
|
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)
|
rs76460090
|
0.00004
|
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=)
|
rs202132932
|
0.00004
|
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=)
|
rs766639108
|
0.00004
|
NM_000069.3(CACNA1S):c.3796-19G>A
|
rs369787862
|
0.00004
|
NM_000069.3(CACNA1S):c.4543+4G>A
|
rs776190353
|
0.00004
|
NM_000069.3(CACNA1S):c.5370+7C>T
|
rs571061537
|
0.00004
|
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)
|
rs186538122
|
0.00004
|
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=)
|
rs748352939
|
0.00004
|
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)
|
rs138205421
|
0.00004
|
NM_000337.6(SGCD):c.*7566C>T
|
rs913397406
|
0.00004
|
NM_000337.6(SGCD):c.*906C>T
|
rs886060292
|
0.00004
|
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
|
rs549319429
|
0.00004
|
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)
|
rs1437006739
|
0.00004
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)
|
rs764237334
|
0.00004
|
NM_000337.6(SGCD):c.716C>T (p.Ala239Val)
|
rs377153196
|
0.00004
|
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)
|
rs201239189
|
0.00004
|
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=)
|
rs555324138
|
0.00004
|
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)
|
rs779159076
|
0.00004
|
NM_001267550.2(TTN):c.18942C>T (p.Thr6314=)
|
rs572285982
|
0.00004
|
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=)
|
rs765956215
|
0.00004
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
NM_001267550.2(TTN):c.34379-14T>C
|
rs727505341
|
0.00004
|
NM_001267550.2(TTN):c.38256G>A (p.Pro12752=)
|
rs794728014
|
0.00004
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
NM_001267550.2(TTN):c.67348+11G>C
|
rs587780982
|
0.00004
|
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=)
|
rs767989384
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001267550.2(TTN):c.97464T>C (p.Ser32488=)
|
rs571147766
|
0.00004
|
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=)
|
rs72648274
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg)
|
rs374418323
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr)
|
rs138345857
|
0.00004
|
NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=)
|
rs140133465
|
0.00004
|
NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe)
|
rs759689850
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)
|
rs756912039
|
0.00003
|
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)
|
rs751466306
|
0.00003
|
NM_000023.4(SGCA):c.158-4C>A
|
rs776411719
|
0.00003
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)
|
rs1241905770
|
0.00003
|
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=)
|
rs144920422
|
0.00003
|
NM_000069.3(CACNA1S):c.1393+11A>T
|
rs753604199
|
0.00003
|
NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr)
|
rs776209588
|
0.00003
|
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=)
|
rs200091030
|
0.00003
|
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=)
|
rs889659456
|
0.00003
|
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)
|
rs143816534
|
0.00003
|
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=)
|
rs751043315
|
0.00003
|
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=)
|
rs774801845
|
0.00003
|
NM_000069.3(CACNA1S):c.3610-17G>A
|
rs368357562
|
0.00003
|
NM_000069.3(CACNA1S):c.3667-5C>T
|
rs368885124
|
0.00003
|
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser)
|
rs142144624
|
0.00003
|
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)
|
rs138167275
|
0.00003
|
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)
|
rs970352258
|
0.00003
|
NM_000069.3(CACNA1S):c.4543+15G>A
|
rs746717103
|
0.00003
|
NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile)
|
rs374294701
|
0.00003
|
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=)
|
rs746654928
|
0.00003
|
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)
|
rs1287586310
|
0.00003
|
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val)
|
rs139920212
|
0.00003
|
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=)
|
rs376517944
|
0.00003
|
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)
|
rs764247865
|
0.00003
|
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys)
|
rs570232197
|
0.00003
|
NM_000337.5(SGCD):c.-135C>T
|
rs886060284
|
0.00003
|
NM_000337.6(SGCD):c.*3580G>A
|
rs1214313359
|
0.00003
|
NM_000337.6(SGCD):c.-43-1G>A
|
rs767016855
|
0.00003
|
NM_000337.6(SGCD):c.294+15A>C
|
rs377470284
|
0.00003
|
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)
|
rs752000538
|
0.00003
|
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)
|
rs750459196
|
0.00003
|
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys)
|
rs768979513
|
0.00003
|
NM_000337.6(SGCD):c.699+72A>C
|
rs376317697
|
0.00003
|
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu)
|
rs375159661
|
0.00003
|
NM_000337.6(SGCD):c.783C>T (p.Phe261=)
|
rs768741617
|
0.00003
|
NM_000337.6(SGCD):c.798C>T (p.Cys266=)
|
rs371850230
|
0.00003
|
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)
|
rs369627849
|
0.00003
|
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn)
|
rs183321773
|
0.00003
|
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)
|
rs375032616
|
0.00003
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=)
|
rs775065173
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=)
|
rs773148195
|
0.00003
|
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)
|
rs373140387
|
0.00003
|
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp)
|
rs756853004
|
0.00003
|
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn)
|
rs375448136
|
0.00003
|
NM_015602.4(TOR1AIP1):c.554-1G>A
|
rs200993053
|
0.00003
|
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile)
|
rs767019881
|
0.00003
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)
|
rs779834721
|
0.00002
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
NM_000023.4(SGCA):c.230G>A (p.Arg77His)
|
rs369340251
|
0.00002
|
NM_000023.4(SGCA):c.312+5C>T
|
rs377006294
|
0.00002
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=)
|
rs1051111849
|
0.00002
|
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=)
|
rs763639897
|
0.00002
|
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=)
|
rs754689047
|
0.00002
|
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)
|
rs751671175
|
0.00002
|
NM_000069.3(CACNA1S):c.1619+15C>T
|
rs771698501
|
0.00002
|
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)
|
rs373525085
|
0.00002
|
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val)
|
rs185777948
|
0.00002
|
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys)
|
rs377082783
|
0.00002
|
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu)
|
rs759887262
|
0.00002
|
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=)
|
rs113659687
|
0.00002
|
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)
|
rs764821044
|
0.00002
|
NM_000069.3(CACNA1S):c.259-14G>A
|
rs762197754
|
0.00002
|
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met)
|
rs751833750
|
0.00002
|
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met)
|
rs571902899
|
0.00002
|
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)
|
rs759934490
|
0.00002
|
NM_000069.3(CACNA1S):c.2853+6C>T
|
rs376299130
|
0.00002
|
NM_000069.3(CACNA1S):c.2854-15T>G
|
rs1405252446
|
0.00002
|
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=)
|
rs745738564
|
0.00002
|
NM_000069.3(CACNA1S):c.3053+19C>G
|
rs372276351
|
0.00002
|
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu)
|
rs765685405
|
0.00002
|
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met)
|
rs200558548
|
0.00002
|
NM_000069.3(CACNA1S):c.3610-18C>T
|
rs747616430
|
0.00002
|
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp)
|
rs762394267
|
0.00002
|
NM_000069.3(CACNA1S):c.4242-5C>T
|
rs749316339
|
0.00002
|
NM_000069.3(CACNA1S):c.4441+3G>A
|
rs886045795
|
0.00002
|
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln)
|
rs946904077
|
0.00002
|
NM_000069.3(CACNA1S):c.5135-4A>G
|
rs1388042700
|
0.00002
|
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala)
|
rs1187716461
|
0.00002
|
NM_000069.3(CACNA1S):c.702G>T (p.Val234=)
|
rs752724350
|
0.00002
|
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)
|
rs768015104
|
0.00002
|
NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile)
|
rs763637720
|
0.00002
|
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser)
|
rs886045801
|
0.00002
|
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly)
|
rs201585867
|
0.00002
|
NM_000117.3(EMD):c.632G>A (p.Arg211His)
|
rs782596223
|
0.00002
|
NM_000337.6(SGCD):c.*5749C>T
|
rs886060310
|
0.00002
|
NM_000337.6(SGCD):c.1A>G (p.Met1Val)
|
rs756367674
|
0.00002
|
NM_000337.6(SGCD):c.298A>C (p.Asn100His)
|
rs1436273126
|
0.00002
|
NM_000337.6(SGCD):c.3+2T>A
|
rs753979573
|
0.00002
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
NM_000337.6(SGCD):c.575+6C>T
|
rs886044432
|
0.00002
|
NM_000337.6(SGCD):c.630C>T (p.Ile210=)
|
rs763051644
|
0.00002
|
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe)
|
rs781628137
|
0.00002
|
NM_000337.6(SGCD):c.786G>A (p.Glu262=)
|
rs1197695649
|
0.00002
|
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)
|
rs202223676
|
0.00002
|
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)
|
rs1488623227
|
0.00002
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)
|
rs754763074
|
0.00002
|
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)
|
rs571364996
|
0.00002
|
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)
|
rs748528655
|
0.00002
|
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)
|
rs369619711
|
0.00002
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
NM_001267550.2(TTN):c.2160T>G (p.Pro720=)
|
rs776860277
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln)
|
rs76604657
|
0.00002
|
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)
|
rs397517702
|
0.00002
|
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=)
|
rs768116404
|
0.00002
|
NM_001267550.2(TTN):c.88895-18C>T
|
rs547463003
|
0.00002
|
NM_004006.3(DMD):c.367G>A (p.Val123Ile)
|
rs757220688
|
0.00002
|
NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala)
|
rs1419816532
|
0.00002
|
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp)
|
rs770711808
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.1035G>A (p.Arg345=)
|
rs374989747
|
0.00001
|
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)
|
rs368243053
|
0.00001
|
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)
|
rs150524482
|
0.00001
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
0.00001
|
NM_000023.4(SGCA):c.147T>C (p.Pro49=)
|
rs745447270
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.312+19A>C
|
rs527959287
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.422G>A (p.Arg141His)
|
rs1325350236
|
0.00001
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)
|
rs1356585975
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
NM_000023.4(SGCA):c.600G>A (p.Val200=)
|
rs764188161
|
0.00001
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
NM_000023.4(SGCA):c.716A>G (p.His239Arg)
|
rs398123099
|
0.00001
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
NM_000023.4(SGCA):c.748-2A>T
|
rs1412537279
|
0.00001
|
NM_000023.4(SGCA):c.748-3C>T
|
rs794727834
|
0.00001
|
NM_000023.4(SGCA):c.847G>C (p.Asp283His)
|
rs766674286
|
0.00001
|
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)
|
rs886043256
|
0.00001
|
NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala)
|
rs752737494
|
0.00001
|
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu)
|
rs1450678337
|
0.00001
|
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)
|
rs140246559
|
0.00001
|
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=)
|
rs765888271
|
0.00001
|
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=)
|
rs774899299
|
0.00001
|
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe)
|
rs772213240
|
0.00001
|
NM_000069.3(CACNA1S):c.1827+6C>T
|
rs202244301
|
0.00001
|
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser)
|
rs768445692
|
0.00001
|
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys)
|
rs1347247620
|
0.00001
|
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe)
|
rs757750396
|
0.00001
|
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val)
|
rs774585202
|
0.00001
|
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)
|
rs1313818230
|
0.00001
|
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu)
|
rs779684649
|
0.00001
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
NM_000069.3(CACNA1S):c.2361-3C>T
|
rs774194599
|
0.00001
|
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)
|
rs148895719
|
0.00001
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
NM_000069.3(CACNA1S):c.2658-10C>T
|
rs760659248
|
0.00001
|
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe)
|
rs1013152799
|
0.00001
|
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=)
|
rs376393159
|
0.00001
|
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser)
|
rs569324688
|
0.00001
|
NM_000069.3(CACNA1S):c.2854-6C>T
|
rs1033462438
|
0.00001
|
NM_000069.3(CACNA1S):c.2907-16G>A
|
rs756591873
|
0.00001
|
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)
|
rs377715551
|
0.00001
|
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=)
|
rs374912997
|
0.00001
|
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu)
|
rs886045798
|
0.00001
|
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn)
|
rs749706205
|
0.00001
|
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=)
|
rs1453821550
|
0.00001
|
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys)
|
rs776320792
|
0.00001
|
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys)
|
rs763707356
|
0.00001
|
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro)
|
rs749588662
|
0.00001
|
NM_000069.3(CACNA1S):c.3609+6T>C
|
rs1369529387
|
0.00001
|
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=)
|
rs774191804
|
0.00001
|
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=)
|
rs773738696
|
0.00001
|
NM_000069.3(CACNA1S):c.3667-4G>A
|
rs762497596
|
0.00001
|
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr)
|
rs756259956
|
0.00001
|
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg)
|
rs768780512
|
0.00001
|
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=)
|
rs748525277
|
0.00001
|
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=)
|
rs1262731998
|
0.00001
|
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu)
|
rs563795648
|
0.00001
|
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile)
|
rs200487546
|
0.00001
|
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly)
|
rs1007920084
|
0.00001
|
NM_000069.3(CACNA1S):c.4242-10C>G
|
rs574154912
|
0.00001
|
NM_000069.3(CACNA1S):c.4242-4G>A
|
rs780264366
|
0.00001
|
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg)
|
rs886045796
|
0.00001
|
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=)
|
rs757017761
|
0.00001
|
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala)
|
rs74642988
|
0.00001
|
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr)
|
rs752620158
|
0.00001
|
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn)
|
rs1413666626
|
0.00001
|
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser)
|
rs147007610
|
0.00001
|
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)
|
rs200772623
|
0.00001
|
NM_000069.3(CACNA1S):c.5048+8C>T
|
rs759622507
|
0.00001
|
NM_000069.3(CACNA1S):c.5135-7C>T
|
rs886038223
|
0.00001
|
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg)
|
rs758722244
|
0.00001
|
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val)
|
rs771065920
|
0.00001
|
NM_000069.3(CACNA1S):c.541+18T>A
|
rs760602154
|
0.00001
|
NM_000069.3(CACNA1S):c.541+7G>A
|
rs1218931598
|
0.00001
|
NM_000069.3(CACNA1S):c.550G>A (p.Val184Met)
|
rs1662243070
|
0.00001
|
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)
|
rs771569004
|
0.00001
|
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr)
|
rs779799849
|
0.00001
|
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser)
|
rs1028599438
|
0.00001
|
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=)
|
rs780305979
|
0.00001
|
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)
|
rs776793553
|
0.00001
|
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)
|
rs143583537
|
0.00001
|
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)
|
rs774685118
|
0.00001
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
NM_000231.3(SGCG):c.547C>T (p.Leu183Phe)
|
rs1425113474
|
0.00001
|
NM_000337.6(SGCD):c.*5819G>T
|
rs962759358
|
0.00001
|
NM_000337.6(SGCD):c.153C>T (p.Ala51=)
|
rs1021837057
|
0.00001
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
NM_000337.6(SGCD):c.340A>G (p.Ile114Val)
|
rs760206240
|
0.00001
|
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys)
|
rs748107425
|
0.00001
|
NM_000337.6(SGCD):c.354G>T (p.Gln118His)
|
rs770930747
|
0.00001
|
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)
|
rs1324593212
|
0.00001
|
NM_000337.6(SGCD):c.447C>G (p.Leu149=)
|
rs1257378159
|
0.00001
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_000337.6(SGCD):c.506C>T (p.Ala169Val)
|
rs876658001
|
0.00001
|
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)
|
rs769250018
|
0.00001
|
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser)
|
rs794727901
|
0.00001
|
NM_000337.6(SGCD):c.642T>C (p.Ala214=)
|
rs778303434
|
0.00001
|
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr)
|
rs772799792
|
0.00001
|
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)
|
rs150591365
|
0.00001
|
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)
|
rs559177313
|
0.00001
|
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)
|
rs567956595
|
0.00001
|
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)
|
rs370745710
|
0.00001
|
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe)
|
rs1486691301
|
0.00001
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=)
|
rs565546452
|
0.00001
|
NM_001267550.2(TTN):c.18456T>C (p.His6152=)
|
rs756540833
|
0.00001
|
NM_001267550.2(TTN):c.20808G>A (p.Arg6936=)
|
rs773342572
|
0.00001
|
NM_001267550.2(TTN):c.27273C>T (p.Cys9091=)
|
rs375546576
|
0.00001
|
NM_001267550.2(TTN):c.2730C>T (p.Thr910=)
|
rs375432172
|
0.00001
|
NM_001267550.2(TTN):c.30966C>T (p.Asp10322=)
|
rs587780979
|
0.00001
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
NM_001267550.2(TTN):c.43704A>G (p.Val14568=)
|
rs368783829
|
0.00001
|
NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=)
|
rs376959563
|
0.00001
|
NM_001267550.2(TTN):c.63981A>G (p.Val21327=)
|
rs397517656
|
0.00001
|
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)
|
rs397517673
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met)
|
rs567800207
|
0.00001
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
NM_001267550.2(TTN):c.78942T>C (p.Asp26314=)
|
rs560223850
|
0.00001
|
NM_001267550.2(TTN):c.88152G>A (p.Lys29384=)
|
rs1206935877
|
0.00001
|
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)
|
rs557737090
|
0.00001
|
NM_001267550.2(TTN):c.96904+8C>T
|
rs528358945
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr)
|
rs775375281
|
0.00001
|
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met)
|
rs377375784
|
0.00001
|
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu)
|
rs760733600
|
0.00001
|
NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr)
|
rs1376862055
|
0.00001
|
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln)
|
rs773422033
|
0.00001
|
NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn)
|
rs1647780800
|
0.00001
|
NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=)
|
rs150530440
|
0.00001
|
NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=)
|
rs769367527
|
0.00001
|
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu)
|
rs1198939008
|
0.00001
|
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp)
|
rs770895707
|
0.00001
|
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)
|
rs556069604
|
0.00001
|
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)
|
rs774752168
|
0.00001
|
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)
|
rs148131756
|
0.00001
|
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)
|
rs754653320
|
0.00001
|
NM_024301.5(FKRP):c.119G>A (p.Arg40His)
|
rs2054891509
|
0.00001
|
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)
|
rs963039919
|
0.00001
|
NM_024301.5(FKRP):c.9C>T (p.Leu3=)
|
rs756295058
|
0.00001
|
NM_182914.3(SYNE2):c.10697+35T>G
|
rs1392162624
|
0.00001
|
NM_000023.4(SGCA):c.-5C>G
|
rs776195527
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly)
|
rs1376381665
|
|
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)
|
rs1487379783
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
NM_000023.4(SGCA):c.160G>A (p.Val54Ile)
|
rs1485826147
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)
|
rs2144494625
|
|
NM_000023.4(SGCA):c.312G>A (p.Glu104=)
|
rs886044401
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)
|
rs749097695
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
NM_000023.4(SGCA):c.38-46G>C
|
rs142537375
|
|
NM_000023.4(SGCA):c.386-16del
|
rs556088617
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)
|
rs1555568788
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs)
|
rs2144493097
|
|
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)
|
rs886044540
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)
|
rs754703769
|
|
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)
|
rs1905254738
|
|
NM_000023.4(SGCA):c.819G>A (p.Pro273=)
|
rs35972733
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.956+2_956+19del
|
rs1555569342
|
|
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=)
|
rs542505383
|
|
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=)
|
rs763965450
|
|
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe)
|
rs1174671318
|
|
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg)
|
rs749572656
|
|
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile)
|
rs1235626524
|
|
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)
|
rs977298165
|
|
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=)
|
rs373712202
|
|
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr)
|
rs1411108885
|
|
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu)
|
rs772738139
|
|
NM_000069.3(CACNA1S):c.152+17G>A
|
rs113558244
|
|
NM_000069.3(CACNA1S):c.152+17G>C
|
rs113558244
|
|
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)
|
rs140662085
|
|
NM_000069.3(CACNA1S):c.1550G>A (p.Gly517Asp)
|
rs2102144073
|
|
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=)
|
rs775975526
|
|
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)
|
rs143999390
|
|
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp)
|
rs569061608
|
|
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp)
|
rs1661653168
|
|
NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)
|
|
|
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val)
|
rs550246898
|
|
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=)
|
rs200743095
|
|
NM_000069.3(CACNA1S):c.1948+10C>T
|
rs201173419
|
|
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met)
|
rs764736462
|
|
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys)
|
rs35708442
|
|
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)
|
rs141619541
|
|
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=)
|
rs141619541
|
|
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=)
|
rs1057524226
|
|
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=)
|
rs770064983
|
|
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)
|
rs553593355
|
|
NM_000069.3(CACNA1S):c.2746-16G>A
|
rs531717137
|
|
NM_000069.3(CACNA1S):c.2854-33CCTC[6]
|
rs747117832
|
|
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)
|
rs146497999
|
|
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=)
|
rs146497999
|
|
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly)
|
rs80338782
|
|
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=)
|
rs34515088
|
|
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu)
|
rs142102094
|
|
NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp)
|
rs375919164
|
|
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
|
|
|
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del)
|
rs1283443722
|
|
NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met)
|
rs1660730259
|
|
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly)
|
rs200034567
|
|
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser)
|
rs921262693
|
|
NM_000069.3(CACNA1S):c.3861+14G>T
|
rs200654730
|
|
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn)
|
rs1660695433
|
|
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met)
|
rs377030324
|
|
NM_000069.3(CACNA1S):c.3953+14G>A
|
rs201077181
|
|
NM_000069.3(CACNA1S):c.3953+5G>A
|
rs752722907
|
|
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn)
|
rs1030338556
|
|
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
|
|
|
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=)
|
rs769933784
|
|
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=)
|
rs553580116
|
|
NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)
|
|
|
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=)
|
rs761794209
|
|
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)
|
rs540448406
|
|
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=)
|
rs1553248697
|
|
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu)
|
rs995172326
|
|
NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu)
|
rs774256022
|
|
NM_000069.3(CACNA1S):c.4669-6C>T
|
|
|
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys)
|
rs758332515
|
|
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr)
|
rs1553248123
|
|
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His)
|
rs886045794
|
|
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
|
|
|
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg)
|
rs1660204682
|
|
NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly)
|
rs1660201407
|
|
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)
|
rs777977731
|
|
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)
|
rs200434921
|
|
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg)
|
rs1255660415
|
|
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=)
|
rs1558047794
|
|
NM_000069.3(CACNA1S):c.541+9C>T
|
rs375541532
|
|
NM_000069.3(CACNA1S):c.542-9C>T
|
rs767627454
|
|
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly)
|
rs1057524423
|
|
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)
|
rs554596425
|
|
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=)
|
rs756090938
|
|
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly)
|
rs1057524424
|
|
NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu)
|
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000069.3(CACNA1S):c.853G>A (p.Val285Met)
|
|
|
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met)
|
rs1558078309
|
|
NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala)
|
rs2141102293
|
|
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)
|
rs760344791
|
|
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val)
|
rs2141223812
|
|
NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr)
|
rs2141224186
|
|
NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)
|
rs2141164606
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
NM_000117.3(EMD):c.433G>A (p.Glu145Lys)
|
rs2067882908
|
|
NM_000117.3(EMD):c.715C>T (p.Leu239Phe)
|
rs2067886585
|
|
NM_000182.5(HADHA):c.252A>C (p.Gln84His)
|
rs2147784410
|
|
NM_000231.3(SGCG):c.579-24T>G
|
rs1536729
|
|
NM_000231.3(SGCG):c.579-26T>G
|
rs1536728
|
|
NM_000231.3(SGCG):c.740T>C (p.Leu247Pro)
|
rs2137534069
|
|
NM_000337.5(SGCD):c.-626_-616del
|
rs149976574
|
|
NM_000337.6(SGCD):c.*1906C>G
|
rs540017785
|
|
NM_000337.6(SGCD):c.*1907G>A
|
rs75063526
|
|
NM_000337.6(SGCD):c.*2813C>A
|
rs886060297
|
|
NM_000337.6(SGCD):c.*2814G>A
|
rs142023087
|
|
NM_000337.6(SGCD):c.*4935C>T
|
rs1029399512
|
|
NM_000337.6(SGCD):c.*6223T>A
|
rs886060313
|
|
NM_000337.6(SGCD):c.*6518C>T
|
rs1165157961
|
|
NM_000337.6(SGCD):c.*6660dup
|
rs57240389
|
|
NM_000337.6(SGCD):c.*6664C>T
|
rs1010222786
|
|
NM_000337.6(SGCD):c.-44+1_-44+2dup
|
rs1554093294
|
|
NM_000337.6(SGCD):c.-44+2T>A
|
rs1300537737
|
|
NM_000337.6(SGCD):c.-94C>G
|
rs13170573
|
|
NM_000337.6(SGCD):c.105G>C (p.Leu35=)
|
rs193922392
|
|
NM_000337.6(SGCD):c.105G>T (p.Leu35=)
|
rs193922392
|
|
NM_000337.6(SGCD):c.116T>C (p.Val39Ala)
|
rs794729164
|
|
NM_000337.6(SGCD):c.177C>T (p.Val59=)
|
rs727505265
|
|
NM_000337.6(SGCD):c.192+1G>A
|
rs1267810339
|
|
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
|
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
|
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn)
|
rs786205286
|
|
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln)
|
rs1159364901
|
|
NM_000337.6(SGCD):c.294+1G>A
|
rs727503422
|
|
NM_000337.6(SGCD):c.3+19C>T
|
rs182715924
|
|
NM_000337.6(SGCD):c.337A>C (p.Asn113His)
|
rs1760624404
|
|
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu)
|
rs956992133
|
|
NM_000337.6(SGCD):c.363G>T (p.Val121=)
|
rs1327634775
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[4]
|
rs727504998
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile)
|
rs886044160
|
|
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)
|
rs766924806
|
|
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr)
|
rs886043902
|
|
NM_000337.6(SGCD):c.534A>G (p.Ile178Met)
|
rs1474496504
|
|
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser)
|
rs1187720404
|
|
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr)
|
rs1757387093
|
|
NM_000337.6(SGCD):c.594G>T (p.Arg198=)
|
rs754875886
|
|
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)
|
rs1327580871
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000337.6(SGCD):c.775_777del (p.Lys259del)
|
rs1207864818
|
|
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser)
|
rs753240054
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
NM_000432.4(MYL2):c.353+20del
|
rs3833910
|
|
NM_000540.3(RYR1):c.1672+29G>C
|
rs2288889
|
|
NM_000540.3(RYR1):c.631+39dup
|
rs35018208
|
|
NM_000540.3(RYR1):c.8068-29_8068-27del
|
rs796750554
|
|
NM_000540.3(RYR1):c.8932+34dup
|
rs5828009
|
|
NM_001040436.3(YARS2):c.*406C>T
|
rs145618550
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001079802.2(FKTN):c.*42del
|
rs749100291
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)
|
rs1343750016
|
|
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
|
rs2132016533
|
|
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)
|
rs2133099564
|
|
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val)
|
rs2133161218
|
|
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)
|
rs759791267
|
|
NM_001103.4(ACTN2):c.877-42C>T
|
rs7527525
|
|
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)
|
rs398123766
|
|
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr)
|
rs886043196
|
|
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn)
|
rs2152814096
|
|
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.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)
|
rs139654844
|
|
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)
|
rs768704227
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001164508.2(NEB):c.10872+27A>C
|
rs10186656
|
|
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys)
|
rs2153960539
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu)
|
rs2153726853
|
|
NM_001164508.2(NEB):c.22161+18G>C
|
rs6721666
|
|
NM_001206641.3(COA6):c.373-8dup
|
rs58896934
|
|
NM_001256007.3(PNPLA8):c.1626-15del
|
rs3214243
|
|
NM_001267550.2(TTN):c.*99dup
|
rs11424072
|
|
NM_001267550.2(TTN):c.100766-10dup
|
rs749872538
|
|
NM_001267550.2(TTN):c.100766-11_100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)
|
rs398124462
|
|
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)
|
rs794729250
|
|
NM_001267550.2(TTN):c.11255-17_11255-16del
|
rs72647895
|
|
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=)
|
rs373875040
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)
|
rs779159076
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)
|
rs557350005
|
|
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)
|
rs535793314
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.2226C>A (p.Ser742=)
|
rs151025677
|
|
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)
|
rs533384820
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
NM_001267550.2(TTN):c.30683-21_30683-19del
|
rs752002029
|
|
NM_001267550.2(TTN):c.33018A>G (p.Thr11006=)
|
rs765492188
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.43481-16dup
|
rs730880350
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala)
|
rs369269320
|
|
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln)
|
rs547986881
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.6303C>T (p.Val2101=)
|
rs937168906
|
|
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)
|
rs187378247
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.74190T>G (p.Gly24730=)
|
rs201797603
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=)
|
rs751627427
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001267550.2(TTN):c.85863T>C (p.Tyr28621=)
|
rs113527853
|
|
NM_001267550.2(TTN):c.8887A>C (p.Thr2963Pro)
|
rs200875815
|
|
NM_001267550.2(TTN):c.8902+14_8902+16delinsA
|
rs786200994
|
|
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser)
|
rs370568740
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
NM_001267550.2(TTN):c.9472-19del
|
rs201990196
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.99810C>T (p.Val33270=)
|
rs564536939
|
|
NM_001363810.1(VMA21):c.19G>C (p.Gly7Arg)
|
rs176451
|
|
NM_001378030.1(CCDC78):c.1134-131del
|
rs35843452
|
|
NM_001378030.1(CCDC78):c.1134-160dup
|
rs548208034
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
NM_001849.4(COL6A2):c.1672-24C>G
|
rs3746995
|
|
NM_001953.5(TYMP):c.766-53C>T
|
rs2148679059
|
|
NM_002495.4(NDUFS4):c.424+19dup
|
rs140172554
|
|
NM_002693.3:c.2734+39_2734+40insAGGT
|
rs2152061162
|
|
NM_003418.5(CNBP):c.156C>T (p.Asp52=)
|
rs4303883
|
|
NM_004006.3(DMD):c.10367del (p.Asn3456fs)
|
rs1556028034
|
|
NM_004006.3(DMD):c.2335G>C (p.Asp779His)
|
rs2148691189
|
|
NM_004006.3(DMD):c.3630del (p.Glu1211fs)
|
rs2098315232
|
|
NM_004006.3(DMD):c.610A>G (p.Arg204Gly)
|
rs2148751035
|
|
NM_004006.3(DMD):c.888C>A (p.Phe296Leu)
|
rs977310228
|
|
NM_004168.4(SDHA):c.771-11A>G
|
rs2288461
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
NM_004370.6(COL12A1):c.1892-19dup
|
rs11347601
|
|
NM_004614.5(TK2):c.-30C>G
|
rs3743715
|
|
NM_004618.5(TOP3A):c.1468-11G>T
|
rs3817992
|
|
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro)
|
rs140523
|
|
NM_005476.7(GNE):c.710T>C (p.Leu237Ser)
|
rs886043407
|
|
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=)
|
rs10167209
|
|
NM_007215.4(POLG2):c.1191+6dup
|
rs60611997
|
|
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)
|
|
|
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
|
|
|
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu)
|
rs1558048637
|
|
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His)
|
rs748833315
|
|
NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu)
|
|
|
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
|
|
|
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
|
rs2148480016
|
|
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn)
|
rs1558045449
|
|
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)
|
rs11581962
|
|
NM_015602.4(TOR1AIP1):c.964+1G>A
|
rs2274955
|
|
NM_016474.5(CCDC174):c.485+83C>G
|
rs9840626
|
|
NM_016532.4(INPP5K):c.554+16del
|
rs5818804
|
|
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu)
|
rs3769148
|
|
NM_017534.6(MYH2):c.399T>A (p.Pro133=)
|
rs11078850
|
|
NM_017739.4(POMGNT1):c.*457C>T
|
rs1657513729
|
|
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)
|
rs752591703
|
|
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)
|
rs2148167563
|
|
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)
|
rs972657462
|
|
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)
|
rs2148202208
|
|
NM_021942.6(TRAPPC11):c.2851+42GC[2]
|
rs147708886
|
|
NM_024301.5(FKRP):c.282C>T (p.Pro94=)
|
rs1267805674
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
NM_031229.4(RBCK1):c.282C>T (p.Phe94=)
|
rs753580979
|
|
NM_032608.7(MYO18B):c.2439C>G (p.Leu813=)
|
rs738642
|
|
NM_032608.7(MYO18B):c.530C>T (p.Pro177Leu)
|
rs13058434
|
|
NM_032608.7(MYO18B):c.5749-11del
|
rs10600754
|
|
NM_032806.6(POMGNT2):c.-43C>T
|
rs2936818
|
|
NM_133378.4(TTN):c.26780-19dup
|
rs397517532
|
|
NM_139343.3(BIN1):c.1573-63C>T
|
rs7558000
|
|
NM_139343.3(BIN1):c.1573-72C>T
|
rs7558001
|
|
NM_145064.3(STAC3):c.66+30dup
|
rs35971501
|
|
NM_145868.2(ANXA11):c.-8-55G>A
|
rs11201972
|
|
NM_145868.2(ANXA11):c.688C>T (p.Arg230Cys)
|
rs1049550
|
|
NM_145868.2(ANXA11):c.745-30del
|
rs61537094
|
|
NM_145868.2(ANXA11):c.858+42CG[2]
|
rs746498821
|
|
NM_145868.2(ANXA11):c.858+47G>A
|
rs75344562
|
|
NM_145868.2(ANXA11):c.859-60C>G
|
rs12762098
|
|
NM_152328.5(ADSS1):c.193-4992T>C
|
rs33958252
|
|
NM_152490.5(B3GALNT2):c.-138=
|
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_182914.3(SYNE2):c.2647-3dup
|
rs397726340
|
|
NM_182914.3(SYNE2):c.79+40G>T
|
rs2275018
|
|
NM_182914.3(SYNE2):c.9926A>G (p.His3309Arg)
|
rs8010699
|
|
NM_182961.4(SYNE1):c.11254-31T>G
|
rs6932325
|
|
NM_182961.4(SYNE1):c.11581-15dup
|
rs5880967
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
NM_201384.3(PLEC):c.174+22G>C
|
rs7823393
|
|
NM_201384.3(PLEC):c.2304+9dup
|
rs35671527
|
|
NM_201384.3(PLEC):c.378T>C (p.Ala126=)
|
rs6993938
|
|
NM_201384.3(PLEC):c.946-33C>G
|
rs6994460
|
|
NM_213595.4(ISCU):c.114+17dup
|
rs60547936
|
|
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.-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
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|
NM_213720.3(CHCHD10):c.409+27G>C
|
rs140182
|
|