基因名 突变
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73464825G>A,c.2891G>A,p.R964Q
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73464812G>A,c.2878G>A,p.E960K
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73464788G>A,c.2854G>A,p.E952K
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73464764A>G,c.2830A>G,p.S944G
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73462314del,c.2596del,p.866fs
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73461953G>A,c.2572G>A,p.V858I
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73455253A>G,c.2368A>G,p.M790V
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73453990C>T,c.2263C>T,p.H755Y
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73442306G>A,c.1963G>A,p.V655I
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73434906G>A,c.1487G>A,p.S496N
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73434888G>C,c.1469G>C,p.G490A
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73406348G>A,c.1423G>A,p.V475M
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73406232G>A,c.1307G>A,p.S436N
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73405729G>A,c.1282G>A,p.D428N
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73405682G>A,c.1235G>A,p.R412H
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73405681C>T,c.1234C>T,p.R412C
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73377112G>A,c.1096G>A,p.A366T
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73376998G>A,c.982G>A,p.A328T
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73337684G>A,c.767G>A,p.R256H
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73326643G>C,c.574G>C,p.E192Q
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73270959G>A,c.419G>A,p.R140H
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73270926C>T,c.386C>T,p.A129V
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73269866A>G,c.173A>G,p.Q58R
CDH23(NM_022124,cadherin-related 23,3354aa) g.10:73199595C>T,c.7C>T,p.R3C
CDH22(NM_021248,cadherin 22, type 2,828aa) g.20:44869878C>T,c.274G>A,p.E92K
CDH22(NM_021248,cadherin 22, type 2,828aa) g.20:44856165T>A,c.652A>T,p.T218S
CDH22(NM_021248,cadherin 22, type 2,828aa) g.20:44845507C>T,c.796G>A,p.V266I
CDH22(NM_021248,cadherin 22, type 2,828aa) g.20:44841750C>T,c.916G>A,p.V306M
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