基因名 突变
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30419606G>A,c.1525G>A,p.V509I
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30418689G>A,c.1292G>A,p.R431Q
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30411341T>A,c.834T>A,p.N278K
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30411336G>A,c.829G>A,p.G277R
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30408306C>G,c.430C>G,p.P144A
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30408301G>T,c.425G>T,p.G142V
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30408157C>T,c.281C>T,p.P94L
MYLK2(NM_033118,myosin light chain kinase 2,596aa) g.20:30408049C>A,c.173C>A,p.A58D
MYLIP(NM_013262,myosin regulatory light chain interacting protein,445aa) g.6:16145390G>A,c.1090G>A,p.E364K
MYLIP(NM_013262,myosin regulatory light chain interacting protein,445aa) g.6:16145325A>G,c.1025A>G,p.N342S
MYLIP(NM_013262,myosin regulatory light chain interacting protein,445aa) g.6:16145315G>A,c.1015G>A,p.V339I
MYLIP(NM_013262,myosin regulatory light chain interacting protein,445aa) g.6:16144054G>A,c.787G>A,p.G263R
MYLIP(NM_013262,myosin regulatory light chain interacting protein,445aa) g.6:16143390A>C,c.604A>C,p.I202L
MYLIP(NM_013262,myosin regulatory light chain interacting protein,445aa) g.6:16130851G>A,c.151G>A,p.G51S
MYL7(NM_021223,myosin, light chain 7, regulatory,175aa) g.7:44180651C>T,c.26G>A,p.R9Q
MYL7(NM_021223,myosin, light chain 7, regulatory,175aa) g.7:44179406C>T,c.352G>A,p.G118S
MYL7(NM_021223,myosin, light chain 7, regulatory,175aa) g.7:44178584G>A,c.464C>T,p.A155V
MYL6(NM_021019,myosin, light chain 6, alkali, smooth muscle and non-muscle,151aa) g.12:56554415G>C,c.433G>C,p.V145L
MYL6B(NM_001199629,myosin, light chain 6B, alkali, smooth muscle and non-muscle,208aa) g.12:56549218G>A,c.362G>A,p.R121H
MYL6B(NM_001199629,myosin, light chain 6B, alkali, smooth muscle and non-muscle,208aa) g.12:56548910G>A,c.274G>A,p.V92M
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:675777G>C,c.516G>C,p.E172D
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:675772A>G,c.511A>G,p.K171E
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:675710T>C,c.449T>C,p.I150T
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:675682G>A,c.421G>A,p.V141M
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:674892T>C,c.383T>C,p.L128P
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:674350del,c.345del,p.115fs
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:674309G>A,c.304G>A,p.E102K
MYL5(NM_002477,myosin, light chain 5, regulatory,173aa) g.4:673778T>C,c.263T>C,p.F88S
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