基因名 突变
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140559320G>A,c.1705G>A,p.G569S
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140559029G>C,c.1414G>C,p.G472R
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558672T>A,c.1057T>A,p.F353I
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558628T>C,c.1013T>C,p.V338A
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558613C>T,c.998C>T,p.T333I
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558580C>T,c.965C>T,p.A322V
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558528A>G,c.913A>G,p.K305E
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558391G>C,c.776G>C,p.S259T
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558345G>C,c.730G>C,p.E244Q
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558315G>C,c.700G>C,p.V234L
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558212A>C,c.597A>C,p.K199N
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558120G>A,c.505G>A,p.E169K
PCDHB8(NM_019120,protocadherin beta 8,801aa) g.5:140558102A>G,c.487A>G,p.I163V
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554562A>T,c.2146A>T,p.R716W
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554557G>A,c.2141G>A,p.R714K
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554484G>T,c.2068G>T,p.V690L
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554481G>T,c.2065G>T,p.V689L
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554330G>C,c.1914G>C,p.Q638H
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554310G>T,c.1894G>T,p.E632X
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554244A>G,c.1828A>G,p.T610A
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554172G>C,c.1756G>C,p.V586L
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554118A>G,c.1702A>G,p.S568G
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140554016A>T,c.1600A>T,p.T534S
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140553917G>A,c.1501G>A,p.A501T
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140553893T>C,c.1477T>C,p.S493P
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140553866G>A,c.1450G>A,p.A484T
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140553827G>C,c.1411G>C,p.G471R
PCDHB7(NM_018940,protocadherin beta 7,793aa) g.5:140553822C>A,c.1406C>A,p.P469H
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