基因名 突变
MYBPH(NM_004997,myosin binding protein H,477aa) g.1:203137787T>C,c.1434A>G,p.X478W
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109840856G>A,c.169C>T,p.R57W
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109840832G>A,c.193C>T,p.R65W
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109840182G>A,c.292C>T,p.R98C
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109840169C>T,c.305G>A,p.R102Q
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109840098G>A,c.376C>T,p.R126C
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109839533C>T,c.602G>A,p.R201H
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109839482C>T,c.653G>A,p.R218H
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109838960G>A,c.763C>T,p.R255X
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109838959C>T,c.764G>A,p.R255Q
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109838918C>T,c.805G>A,p.D269N
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109838905A>G,c.818T>C,p.V273A
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109837853G>A,c.934C>T,p.H312Y
MYBPHL(NM_001010985,myosin binding protein H-like,354aa) g.1:109837810A>G,c.977T>C,p.F326S
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47372859C>T,c.223G>A,p.D75N
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47371598C>T,c.472G>A,p.V158M
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47371450G>A,c.529C>T,p.R177C
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47371414C>T,c.565G>A,p.V189I
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47371330T>C,c.649A>G,p.S217G
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47370041T>C,c.706A>G,p.S236G
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47367871C>T,c.977G>A,p.R326Q
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47364637G>A,c.1286C>T,p.A429V
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47364468G>A,c.1370C>T,p.T457M
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47364465C>T,c.1373G>A,p.R458H
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47364249G>A,c.1504C>T,p.R502W
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47364234C>T,c.1519G>A,p.G507R
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47362731C>T,c.1855G>A,p.E619K
MYBPC3(NM_000256,myosin binding protein C, cardiac,1274aa) g.11:47360110C>T,c.2269G>A,p.V757M
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