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_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
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_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_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_000257.4(MYH7):c.3337-5_3337-4insG
|
rs779144252
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_001005361.3(DNM2):c.853C>G (p.Leu285Val)
|
rs878854382
|
|
NM_001100.4(ACTA1):c.341C>T (p.Pro114Leu)
|
rs878854387
|
|
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.[106154A>C];[45599C>G]
|
|
|
NM_001267550.2(TTN):c.[14217A>C];[84105A>T]
|
|
|
NM_001267550.2(TTN):c.[46387G>A];[75050T>C]
|
|
|
NM_001267550.2(TTN):c.[83315A>T];[91762G>A]
|
|
|
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_002206.3(ITGA7):c.2663G>A (p.Gly888Glu)
|
rs878854395
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
NM_006790.3(MYOT):c.314C>T (p.Pro105Leu)
|
rs878854392
|
|
NM_020451.3(SELENON):c.713_714dup (p.Arg239fs)
|
rs878854389
|
|
NM_033337.3(CAV3):c.380C>A (p.Thr127Asn)
|
rs878854385
|
|