基因名 突变
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4204184T>C,c.721A>G,p.I241V
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4199634A>T,c.927T>A,p.D309E
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4199311C>T,c.1250G>A,p.G417D
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4199303G>A,c.1258C>T,p.R420C
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4199261C>T,c.1300G>A,p.V434M
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4199083T>G,c.1478A>C,p.K493T
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4198954C>G,c.1607G>C,p.G536A
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4198949_4198954del,c.1607_1612del,p.536_538del
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4198907G>A,c.1654C>T,p.L552F
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4190595G>C,c.1774C>G,p.P592A
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4190577G>C,c.1792C>G,p.R598G
OTOP1(NM_177998,otopetrin 1,612aa) g.4:4190576C>G,c.1793G>C,p.R598P
OTOL1(NM_001080440,otolin 1,477aa) g.3:161221705A>C,c.1409A>C,p.E470A
OTOL1(NM_001080440,otolin 1,477aa) g.3:161221091A>C,c.795A>C,p.K265N
OTOL1(NM_001080440,otolin 1,477aa) g.3:161220921G>A,c.625G>A,p.G209R
OTOL1(NM_001080440,otolin 1,477aa) g.3:161220819C>A,c.523C>A,p.P175T
OTOL1(NM_001080440,otolin 1,477aa) g.3:161220110G>A,c.470G>A,p.R157H
OTOL1(NM_001080440,otolin 1,477aa) g.3:161214895T>A,c.300T>A,p.N100K
OTOL1(NM_001080440,otolin 1,477aa) g.3:161214875C>G,c.280C>G,p.P94A
OTOL1(NM_001080440,otolin 1,477aa) g.3:161214827G>A,c.232G>A,p.V78I
OTOL1(NM_001080440,otolin 1,477aa) g.3:161214690C>T,c.95C>T,p.T32M
OTOG(NM_001277269,otogelin,2925aa) g.11:17667439G>C,c.8726G>C,p.W2909S
OTOG(NM_001277269,otogelin,2925aa) g.11:17667139G>C,c.8526G>C,p.K2842N
OTOG(NM_001277269,otogelin,2925aa) g.11:17667125C>T,c.8512C>T,p.R2838C
OTOG(NM_001277269,otogelin,2925aa) g.11:17663747G>A,c.8405G>A,p.R2802H
OTOG(NM_001277269,otogelin,2925aa) g.11:17663723C>T,c.8381C>T,p.T2794M
OTOG(NM_001277269,otogelin,2925aa) g.11:17663416G>A,c.8249G>A,p.R2750Q
OTOG(NM_001277269,otogelin,2925aa) g.11:17662573G>A,c.8161G>A,p.D2721N
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