|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
|
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)
|
rs146525742
|
0.00006
|
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
|
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile)
|
rs376564984
|
0.00004
|
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
|
NM_001267550.2(TTN):c.30437T>A (p.Val10146Asp)
|
rs372185371
|
0.00003
|
|
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)
|
rs373108028
|
0.00003
|
|
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)
|
rs199476325
|
0.00003
|
|
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro)
|
rs727503619
|
0.00001
|
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
|
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
|
|
|
|
NM_000257.4(MYH7):c.3337-5_3337-4insG
|
rs779144252
|
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
|
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
|
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
|
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
|
|
|
|
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
|
|
|
|
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)
|
rs878854375
|
|
|
NM_001005361.3(DNM2):c.853C>G (p.Leu285Val)
|
rs878854382
|
|
|
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
|
|
|
|
NM_001100.4(ACTA1):c.341C>T (p.Pro114Leu)
|
rs878854387
|
|
|
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu)
|
rs768144106
|
|
|
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)
|
rs878854374
|
|
|
NM_001144996.1(ITGA7):c.[1011-4A>G];[2752C>T]
|
|
|
|
NM_001164508.2(NEB):c.1782+4_1782+5del
|
rs398124168
|
|
|
NM_001164508.2(NEB):c.23557G>A (p.Val7853Ile)
|
rs878854397
|
|
|
NM_001267550.2(TTN):c.101821A>T (p.Arg33941Ter)
|
rs878854388
|
|
|
NM_001267550.2(TTN):c.19879T>G (p.Ser6627Ala)
|
rs762585871
|
|
|
NM_001267550.2(TTN):c.3490G>T (p.Glu1164Ter)
|
rs878854391
|
|
|
NM_001267550.2(TTN):c.43747+2T>C
|
rs878854384
|
|
|
NM_001267550.2(TTN):c.48845T>C (p.Val16282Ala)
|
rs878854396
|
|
|
NM_001267550.2(TTN):c.55418del (p.Arg18473fs)
|
rs878854380
|
|
|
NM_001267550.2(TTN):c.91690G>T (p.Gly30564Ter)
|
rs878854390
|
|
|
NM_001267550.2(TTN):c.[102956_102958delCAA];[62722C>T]
|
|
|
|
NM_001267550.2(TTN):c.[106154A>C];[45599C>G]
|
|
|
|
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
|
|
|
|
NM_001267550.2(TTN):c.[14217A>C];[84105A>T]
|
|
|
|
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
|
|
|
|
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
|
|
|
|
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
|
|
|
|
NM_001267550.2(TTN):c.[46387G>A];[75050T>C]
|
|
|
|
NM_001267550.2(TTN):c.[83315A>T];[91762G>A]
|
|
|
|
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
|
|
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
|
NM_001848.3(COL6A1):c.1716del (p.Tyr573fs)
|
rs878854381
|
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)
|
rs878854362
|
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
|
NM_002206.3(ITGA7):c.2663G>A (p.Gly888Glu)
|
rs878854395
|
|
|
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)
|
rs878854363
|
|
|
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
|
|
|
|
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs)
|
rs878854366
|
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
|
NM_006790.3(MYOT):c.314C>T (p.Pro105Leu)
|
rs878854392
|
|
|
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
|
|
|
|
NM_020451.3(SELENON):c.713_714dup (p.Arg239fs)
|
rs878854389
|
|
|
NM_033337.3(CAV3):c.380C>A (p.Thr127Asn)
|
rs878854385
|
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
|
NM_213599.3(ANO5):c.352del (p.Glu118fs)
|
rs878854367
|
|