基因名 突变
MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) g.1:171607815C>T,c.652G>A,p.E218K
MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) g.1:171605642G>A,c.938C>T,p.S313F
MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) g.1:171605522G>A,c.1058C>T,p.T353I
MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) g.1:171605387T>C,c.1193A>G,p.K398R
MYOCD(NM_001146312,myocardin,986aa) g.17:12666691C>A,c.2691C>A,p.D897E
MYOCD(NM_001146312,myocardin,986aa) g.17:12666617C>T,c.2617C>T,p.L873F
MYOCD(NM_001146312,myocardin,986aa) g.17:12666520C>A,c.2520C>A,p.S840R
MYOCD(NM_001146312,myocardin,986aa) g.17:12666489C>T,c.2489C>T,p.S830L
MYOCD(NM_001146312,myocardin,986aa) g.17:12666408G>A,c.2408G>A,p.R803K
MYOCD(NM_001146312,myocardin,986aa) g.17:12661424A>G,c.2225A>G,p.D742G
MYOCD(NM_001146312,myocardin,986aa) g.17:12661424A>G,c.2225A>G,p.742CrypticDonor
MYOCD(NM_001146312,myocardin,986aa) g.17:12659746G>A,c.2074G>A,p.D692N
MYOCD(NM_001146312,myocardin,986aa) g.17:12656546G>C,c.1941G>C,p.Q647H
MYOCD(NM_001146312,myocardin,986aa) g.17:12656490C>A,c.1885C>A,p.L629I
MYOCD(NM_001146312,myocardin,986aa) g.17:12656076G>A,c.1471G>A,p.V491M
MYOCD(NM_001146312,myocardin,986aa) g.17:12656070G>T,c.1465G>T,p.V489F
MYOCD(NM_001146312,myocardin,986aa) g.17:12656052G>A,c.1447G>A,p.G483S
MYOCD(NM_001146312,myocardin,986aa) g.17:12655938G>A,c.1333G>A,p.G445S
MYOCD(NM_001146312,myocardin,986aa) g.17:12655861C>T,c.1256C>T,p.T419M
MYOCD(NM_001146312,myocardin,986aa) g.17:12655854G>A,c.1249G>A,p.D417N
MYOCD(NM_001146312,myocardin,986aa) g.17:12655839G>C,c.1234G>C,p.V412L
MYOCD(NM_001146312,myocardin,986aa) g.17:12649295C>T,c.1031C>T,p.T344I
MYOCD(NM_001146312,myocardin,986aa) g.17:12647729T>C,c.947T>C,p.L316P
MYOCD(NM_001146312,myocardin,986aa) g.17:12642622A>G,c.694A>G,p.I232V
MYOCD(NM_001146312,myocardin,986aa) g.17:12639568G>A,c.506G>A,p.S169N
MYO9B(NM_001130065,myosin IXB,2022aa) g.19:17322578C>T,c.6053C>T,p.S2018L
MYO9B(NM_001130065,myosin IXB,2022aa) g.19:17317529G>A,c.5428G>A,p.V1810I
MYO9B(NM_001130065,myosin IXB,2022aa) g.19:17316802G>A,c.5098G>A,p.V1700M
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