ClinVar Miner

List of variants reported as benign for hereditary skeletal muscle disorder by Genome-Nilou Lab

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1441
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_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_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_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_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_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_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
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_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.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_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_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_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_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_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_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_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
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_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_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_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_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_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_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_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 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_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_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_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00419
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_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_000023.4(SGCA):c.-8G>A rs149296410 0.00248
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_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_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925 0.00214
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_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_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
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_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_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_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
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_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_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.5370+10G>A rs368138384 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_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_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_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_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_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_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_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
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_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465 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_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_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_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_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=) rs370105333 0.00031
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 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_001267550.2(TTN):c.38378A>G (p.Lys12793Arg) rs189389531 0.00028
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) rs369467841 0.00027
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 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_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
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_001267550.2(TTN):c.27846C>T (p.Ser9282=) rs182355009 0.00017
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 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_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) rs771843862 0.00014
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=) rs587780978 0.00014
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480 0.00013
NM_000337.6(SGCD):c.3+20G>A rs187786098 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_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.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 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_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 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_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 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_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.3796-14C>T rs377210987 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_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 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_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) rs139860737 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 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_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 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_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 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.554-1G>A rs200993053 0.00003
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 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_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_182914.3(SYNE2):c.10697+35T>G rs1392162624 0.00001
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000023.4(SGCA):c.386-16del rs556088617
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
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.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000231.3(SGCG):c.579-24T>G rs1536729
NM_000231.3(SGCG):c.579-26T>G rs1536728
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.6(SGCD):c.-94C>G rs13170573
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.-45G>T rs77013649
NM_001103.4(ACTN2):c.877-42C>T rs7527525
NM_001130987.2(DYSF):c.3229-61G>C rs57041989
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001164508.2(NEB):c.10872+27A>C rs10186656
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_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_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
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_021942.6(TRAPPC11):c.2851+42GC[2] rs147708886
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.