NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)
|
rs113993956
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His)
|
rs387907339
|
|
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)
|
rs104894201
|
|
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter)
|
rs104894202
|
|
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)
|
rs1566402514
|
|
NM_001289808.2(CRYAB):c.60del (p.Ser21fs)
|
rs281865141
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.5(FLNC):c.665T>C (p.Met222Thr)
|
|
|
NM_001458.5(FLNC):c.733G>A (p.Val245Met)
|
|
|
NM_001458.5(FLNC):c.752T>C (p.Met251Thr)
|
rs387906586
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile)
|
rs121908460
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
NM_031157.4(HNRNPA1):c.1064-63_*4+37del
|
|
|
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)
|
rs1008642
|
|