ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Myriad Genetics, Inc.

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 636
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00005
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) rs1342179740 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_000023.4(SGCA):c.119del (p.Leu40fs)
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
NM_000023.4(SGCA):c.84_90del (p.His29fs)
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter) rs2054157050
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter) rs774048414
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter) rs2054179951
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter) rs2054206966
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter) rs2053335168
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter) rs2053442769
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter) rs2053484604
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter) rs2053589887
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter) rs1669918554
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter) rs1669632177
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter) rs1670695099
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter) rs1460602961
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter) rs1670693281
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter) rs11552518
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter) rs1670589674
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter) rs1670587952
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
NM_000182.5(HADHA):c.761del (p.Lys254fs)
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter) rs1670172615
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter) rs1670172561
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter) rs1670128490
NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) rs781939560
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) rs587783755
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) rs2039434309
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) rs2039921355
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) rs2039922261
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870
NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) rs1778991422
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) rs1436470033
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) rs1781455687
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) rs1781592001
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) rs1786068382
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) rs1786068836
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) rs1231305572
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) rs1786301728
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) rs1042843028
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) rs1786309995
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) rs897845923
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) rs1789398455
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) rs1789399141
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) rs1773282962
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) rs1773283278
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) rs1773502803
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) rs1774908660
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) rs1774908820
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) rs1776953529
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) rs1776953853
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) rs917205971
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) rs1462522184
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) rs1775311864
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) rs1782086229
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) rs1775315900
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) rs1778273068
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) rs1783482812
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) rs1377818460
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) rs1778283565
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) rs1784882494
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) rs2082829594
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) rs2087900330
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) rs2089169741
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) rs2090909751
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) rs2082945195
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) rs2091142154
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) rs2091144091
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) rs2091951931
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) rs2092204417
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) rs2092205152
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) rs2092208616
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) rs2092209337
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) rs2092210085
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) rs2092211777
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) rs2092231526
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) rs763925689
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) rs2092343409
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) rs2092369130
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) rs1666836481
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) rs2093222376
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) rs2093464314
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) rs143393575
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) rs773773555
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) rs1462064763
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) rs576130413
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) rs2094828804
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) rs2094861411
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) rs868779799
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) rs2094975129
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) rs2094975881
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) rs2094976185
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) rs2094976441
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) rs2095073059
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) rs1320752132
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) rs2095289978
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) rs759065714
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)
NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)
NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)
NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)
NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)
NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)
NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)
NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)
NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)
NM_001164508.2(NEB):c.1082_1097del (p.Tyr361fs)
NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)
NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)
NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)
NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)
NM_001164508.2(NEB):c.11529del (p.His3844fs)
NM_001164508.2(NEB):c.11891del (p.Asn3964fs)
NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)
NM_001164508.2(NEB):c.11986del (p.Ser3996fs)
NM_001164508.2(NEB):c.1254_1255del (p.Ser418fs)
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
NM_001164508.2(NEB):c.1370_1386delinsTCTA (p.Asn457fs)
NM_001164508.2(NEB):c.1415_1416insACATTCAAAGT (p.Gln473fs)
NM_001164508.2(NEB):c.1638dup (p.Ile547fs)
NM_001164508.2(NEB):c.1694G>A (p.Trp565Ter)
NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)
NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)
NM_001164508.2(NEB):c.18769del (p.Ala6257fs)
NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)
NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)
NM_001164508.2(NEB):c.18809del (p.Arg6270fs)
NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)
NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)
NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)
NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)
NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)
NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)
NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)
NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)
NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)
NM_001164508.2(NEB):c.19442C>A (p.Ser6481Ter)
NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)
NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)
NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)
NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)
NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)
NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)
NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)
NM_001164508.2(NEB):c.2067T>A (p.Tyr689Ter)
NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)
NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)
NM_001164508.2(NEB):c.20813del (p.Lys6938fs)
NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)
NM_001164508.2(NEB):c.21130del (p.Gly7046fs)
NM_001164508.2(NEB):c.21213del (p.Lys7071fs)
NM_001164508.2(NEB):c.2148C>A (p.Cys716Ter)
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
NM_001164508.2(NEB):c.2299C>T (p.Gln767Ter)
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
NM_001164508.2(NEB):c.2332G>T (p.Glu778Ter)
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
NM_001164508.2(NEB):c.2388_2389del (p.His796fs)
NM_001164508.2(NEB):c.2437G>T (p.Glu813Ter)
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
NM_001164508.2(NEB):c.2549del (p.Lys850fs)
NM_001164508.2(NEB):c.2560_2561insTGAAATATTGATACAC (p.Lys854delinsMetLysTyrTer)
NM_001164508.2(NEB):c.2613_2614del (p.Lys872fs)
NM_001164508.2(NEB):c.2627del (p.Asn876fs)
NM_001164508.2(NEB):c.2716A>T (p.Lys906Ter)
NM_001164508.2(NEB):c.2762T>A (p.Leu921Ter)
NM_001164508.2(NEB):c.2882G>A (p.Trp961Ter)
NM_001164508.2(NEB):c.2956C>T (p.Gln986Ter)
NM_001164508.2(NEB):c.3018_3019insCATCT (p.Ile1007fs)
NM_001164508.2(NEB):c.3178_3179del (p.Ser1060fs)
NM_001164508.2(NEB):c.3181A>T (p.Lys1061Ter)
NM_001164508.2(NEB):c.3187G>T (p.Gly1063Ter)
NM_001164508.2(NEB):c.3277G>T (p.Glu1093Ter)
NM_001164508.2(NEB):c.3328A>T (p.Lys1110Ter)
NM_001164508.2(NEB):c.3330del (p.Lys1110fs)
NM_001164508.2(NEB):c.3338_3339insATGTC (p.His1113fs)
NM_001164508.2(NEB):c.3382A>T (p.Lys1128Ter)
NM_001164508.2(NEB):c.3383_3384del (p.Lys1128fs)
NM_001164508.2(NEB):c.3401del (p.Lys1134fs)
NM_001164508.2(NEB):c.3432_3433del (p.Phe1144fs)
NM_001164508.2(NEB):c.3448A>T (p.Lys1150Ter)
NM_001164508.2(NEB):c.3679A>T (p.Lys1227Ter)
NM_001164508.2(NEB):c.3780_3782delinsT (p.Leu1260fs)
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3860dup (p.Asn1287fs)
NM_001164508.2(NEB):c.3872_3873insTCTAA (p.Ser1292fs)
NM_001164508.2(NEB):c.3997A>T (p.Lys1333Ter)
NM_001164508.2(NEB):c.4047_4048del (p.Gln1350fs)
NM_001164508.2(NEB):c.4066del (p.Val1356fs)
NM_001164508.2(NEB):c.4265_4266del (p.Glu1422fs)
NM_001164508.2(NEB):c.4515C>A (p.Tyr1505Ter)
NM_001164508.2(NEB):c.4538_4539delinsGGGT (p.Lys1513fs)
NM_001164508.2(NEB):c.4543A>T (p.Lys1515Ter)
NM_001164508.2(NEB):c.4545_4546insGTTATTT (p.Tyr1516fs)
NM_001164508.2(NEB):c.4555_4556del (p.Asp1519fs)
NM_001164508.2(NEB):c.4576_4580delinsTTT (p.Ile1526fs)
NM_001164508.2(NEB):c.4585A>T (p.Lys1529Ter)
NM_001164508.2(NEB):c.4656T>A (p.Tyr1552Ter)
NM_001164508.2(NEB):c.4661T>A (p.Leu1554Ter)
NM_001164508.2(NEB):c.4729_4730insT (p.Lys1577fs)
NM_001164508.2(NEB):c.4765G>T (p.Gly1589Ter)
NM_001164508.2(NEB):c.4899_4903del (p.Val1634fs)
NM_001164508.2(NEB):c.4908_4912del (p.Ala1637fs)
NM_001164508.2(NEB):c.4916_4917insG (p.Ser1640fs)
NM_001164508.2(NEB):c.4922_4928del (p.Gln1641fs)
NM_001164508.2(NEB):c.4999del (p.His1667fs)
NM_001164508.2(NEB):c.5164A>T (p.Lys1722Ter)
NM_001164508.2(NEB):c.5170A>T (p.Lys1724Ter)
NM_001164508.2(NEB):c.5191dup (p.Thr1731fs)
NM_001164508.2(NEB):c.5236A>T (p.Lys1746Ter)
NM_001164508.2(NEB):c.5269A>T (p.Lys1757Ter)
NM_001164508.2(NEB):c.527G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5434A>T (p.Arg1812Ter)
NM_001164508.2(NEB):c.5440_5441del (p.Ile1814fs)
NM_001164508.2(NEB):c.5664del (p.Thr1889fs)
NM_001164508.2(NEB):c.5839A>T (p.Lys1947Ter)
NM_001164508.2(NEB):c.5983C>T (p.Gln1995Ter)
NM_001164508.2(NEB):c.6013_6015delinsT (p.His2005fs)
NM_001164508.2(NEB):c.6045_6048del (p.Ala2016fs)
NM_001164508.2(NEB):c.6208A>T (p.Lys2070Ter)
NM_001164508.2(NEB):c.624_627delinsAGCAGCACG (p.Glu209fs)
NM_001164508.2(NEB):c.632G>A (p.Trp211Ter)
NM_001164508.2(NEB):c.6353_6354insTTCATATT (p.Met2119fs)
NM_001164508.2(NEB):c.6356_6357del (p.Met2119fs)
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)
NM_001164508.2(NEB):c.6476_6477insTTATG (p.Met2159fs)
NM_001164508.2(NEB):c.6505A>T (p.Lys2169Ter)
NM_001164508.2(NEB):c.6615_6624del (p.Gln2206fs)
NM_001164508.2(NEB):c.6638delinsGTA (p.Phe2213fs)
NM_001164508.2(NEB):c.6644_6646delinsGACAG (p.Lys2215fs)
NM_001164508.2(NEB):c.6732_6736del (p.Lys2245fs)
NM_001164508.2(NEB):c.7042A>T (p.Lys2348Ter)
NM_001164508.2(NEB):c.7054A>T (p.Lys2352Ter)
NM_001164508.2(NEB):c.7058G>A (p.Trp2353Ter)
NM_001164508.2(NEB):c.7075_7078del (p.Ser2359fs)
NM_001164508.2(NEB):c.7146del (p.Asn2383fs)
NM_001164508.2(NEB):c.7329_7330del (p.Ser2443fs)
NM_001164508.2(NEB):c.7511_7512del (p.Lys2504fs)
NM_001164508.2(NEB):c.7537A>T (p.Lys2513Ter)
NM_001164508.2(NEB):c.7601_7602insCCCCAGCTCTCTCC (p.Ile2536fs)
NM_001164508.2(NEB):c.7813del (p.Asp2605fs)
NM_001164508.2(NEB):c.7948del (p.Gln2650fs)
NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)
NM_001164508.2(NEB):c.8111_8112del (p.Asp2704fs)
NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)
NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)
NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)
NM_001164508.2(NEB):c.8554del (p.Val2852fs)
NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)
NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)
NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)
NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)
NM_001164508.2(NEB):c.931A>T (p.Lys311Ter)
NM_001164508.2(NEB):c.9662del (p.His3221fs)
NM_001164508.2(NEB):c.9667del (p.Met3223fs)
NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)
NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)
NM_001164508.2(NEB):c.985G>T (p.Glu329Ter)
NM_004006.3(DMD):c.10699C>T (p.Gln3567Ter) rs2036842297
NM_004006.3(DMD):c.10807G>T (p.Glu3603Ter) rs754333675
NM_004006.3(DMD):c.1346T>A (p.Leu449Ter)
NM_004006.3(DMD):c.1405G>T (p.Glu469Ter) rs774163062
NM_004006.3(DMD):c.1501G>T (p.Glu501Ter) rs2055461260
NM_004006.3(DMD):c.1819A>T (p.Lys607Ter) rs767698069
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter) rs1302764635
NM_004006.3(DMD):c.1840A>T (p.Lys614Ter)
NM_004006.3(DMD):c.2626G>T (p.Glu876Ter) rs1040401556
NM_004006.3(DMD):c.2692A>T (p.Lys898Ter)
NM_004006.3(DMD):c.2873C>A (p.Ser958Ter)
NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter) rs398123919
NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)
NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)
NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter) rs2098349366
NM_004006.3(DMD):c.3824T>A (p.Leu1275Ter) rs770934386
NM_004006.3(DMD):c.3892G>T (p.Gly1298Ter) rs750349613
NM_004006.3(DMD):c.3898G>T (p.Glu1300Ter) rs2098280321
NM_004006.3(DMD):c.3928G>T (p.Glu1310Ter)
NM_004006.3(DMD):c.4342C>T (p.Gln1448Ter) rs2097990454
NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter) rs2147613866
NM_004006.3(DMD):c.4454T>A (p.Leu1485Ter) rs2097986340
NM_004006.3(DMD):c.4649T>A (p.Leu1550Ter) rs2097958158
NM_004006.3(DMD):c.4656T>A (p.Tyr1552Ter) rs2097958107
NM_004006.3(DMD):c.4715T>A (p.Leu1572Ter)
NM_004006.3(DMD):c.4943T>A (p.Leu1648Ter)
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter) rs2097849830
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.5012T>A (p.Leu1671Ter) rs2097849676
NM_004006.3(DMD):c.5026G>T (p.Glu1676Ter) rs868267519
NM_004006.3(DMD):c.5114C>G (p.Ser1705Ter) rs2097848034
NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter)
NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter) rs79541196
NM_004006.3(DMD):c.5548A>T (p.Lys1850Ter)
NM_004006.3(DMD):c.5584A>T (p.Lys1862Ter)
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter) rs1603631244
NM_004006.3(DMD):c.5767A>T (p.Lys1923Ter)
NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter) rs2097747388
NM_004006.3(DMD):c.5860A>T (p.Lys1954Ter) rs2097746958
NM_004006.3(DMD):c.6124A>T (p.Lys2042Ter) rs1178785582
NM_004006.3(DMD):c.6175A>T (p.Lys2059Ter) rs2097447879
NM_004006.3(DMD):c.6217A>T (p.Lys2073Ter) rs773372553
NM_004006.3(DMD):c.6428G>A (p.Trp2143Ter) rs2097114467
NM_004006.3(DMD):c.7833T>A (p.Tyr2611Ter) rs2082254429
NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter) rs2080887929
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) rs2148421809
NM_004006.3(DMD):c.8329A>T (p.Arg2777Ter) rs2071051447
NM_004006.3(DMD):c.8483T>A (p.Leu2828Ter) rs2069915167
NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter) rs2068034053
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter) rs2065154326
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter) rs2065150560
NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter) rs72466562
NM_004006.3(DMD):c.9219T>A (p.Tyr3073Ter)
NM_004006.3(DMD):c.9284T>A (p.Leu3095Ter)
NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter) rs2147071577
NM_004006.3(DMD):c.9362T>A (p.Leu3121Ter) rs2044453958
NM_004006.3(DMD):c.9534T>A (p.Cys3178Ter)
NM_004006.3(DMD):c.9743T>A (p.Leu3248Ter) rs2043796525
NM_004006.3(DMD):c.9856A>T (p.Arg3286Ter)
NM_004006.3(DMD):c.986C>A (p.Ser329Ter)
NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter)
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter) rs1829027066
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter) rs1828929851
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter) rs1828921198
NM_005476.7(GNE):c.1222del (p.Ser408fs)
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter) rs1828914261
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter) rs1828703342
NM_005476.7(GNE):c.1305del (p.Gln436fs)
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
NM_005476.7(GNE):c.811G>T (p.Glu271Ter) rs1829294478
NM_005476.7(GNE):c.926dup (p.Ala310fs)
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
NM_005476.7(GNE):c.955G>T (p.Gly319Ter) rs1829284405
NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)
NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)
NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)
NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)
NM_017739.4(POMGNT1):c.137del (p.Phe46fs)
NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)
NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)
NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)
NM_017739.4(POMGNT1):c.307del (p.Val103fs)
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)
NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)
NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)
NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.732del (p.Pro245fs)
NM_017739.4(POMGNT1):c.94del (p.Gln32fs)

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