基因名 突变
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:673772C>T,c.257C>T,p.T86I
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:672477G>A,c.34G>A,p.G12S
MYL4(NM_001002841,myosin, light chain 4, alkali; atrial, embryonic,197aa) g.17:45299153G>A,c.419G>A,p.R140H
MYL4(NM_001002841,myosin, light chain 4, alkali; atrial, embryonic,197aa) g.17:45299086C>T,c.352C>T,p.P118S
MYL4(NM_001002841,myosin, light chain 4, alkali; atrial, embryonic,197aa) g.17:45299073T>G,c.339T>G,p.F113L
MYL3(NM_000258,myosin, light chain 3, alkali; ventricular, skeletal, slow,195aa) g.3:46904789C>T,c.92G>A,p.R31H
MYL3(NM_000258,myosin, light chain 3, alkali; ventricular, skeletal, slow,195aa) g.3:46899949C>T,c.484G>A,p.E162K
MYL1(NM_079420,myosin, light chain 1, alkali; skeletal, fast,194aa) g.2:211179765_211179766insT,c.1_2insA,p.1fs
MYL1(NM_079420,myosin, light chain 1, alkali; skeletal, fast,194aa) g.2:211179735A>G,c.32T>C,p.V11A
MYL1(NM_079420,myosin, light chain 1, alkali; skeletal, fast,194aa) g.2:211163209C>T,c.239G>A,p.R80Q
MYL12A(NM_006471,myosin, light chain 12A, regulatory, non-sarcomeric,171aa) g.18:3255858T>G,c.458T>G,p.F153C
MYL12A(NM_006471,myosin, light chain 12A, regulatory, non-sarcomeric,171aa) g.18:3255837C>T,c.437C>T,p.P146L
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101272328C>T,c.71G>A,p.G24E
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101267529G>A,c.94C>T,p.R32W
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101267483A>G,c.140T>C,p.F47S
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101267298G>C,c.175C>G,p.L59V
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101266291G>C,c.335C>G,p.T112S
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101265445T>A,c.385A>T,p.M129L
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101259513C>T,c.520G>A,p.V174I
MYL10(NM_138403,myosin, light chain 10, regulatory,226aa) g.7:101259504C>T,c.529G>A,p.D177N
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36745275G>C,c.7C>G,p.Q3E
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36745146G>A,c.136C>T,p.L46F
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36714278C>T,c.1201G>A,p.V401I
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36697100T>G,c.2635A>C,p.M879L
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36696277C>T,c.2872G>A,p.A958T
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36691016C>T,c.3592G>A,p.V1198M
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36690299G>A,c.3676C>T,p.R1226W
MYH9(NM_002473,myosin, heavy chain 9, non-muscle,1960aa) g.22:36689909C>T,c.3838G>A,p.V1280M
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org