基因名 突变
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43464613T>C,c.5273A>G,p.N1758S
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43460123C>T,c.5584G>A,p.A1862T
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43460116C>T,c.5591G>A,p.S1864N
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43460089T>A,c.5618A>T,p.E1873V
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43447704C>T,c.6235G>A,p.G2079R
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43447536C>T,c.6403G>A,p.D2135N
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43440233A>G,c.6845T>C,p.I2282T
EPG5(NM_020964,ectopic P-granules autophagy protein 5 homolog (C. elegans),2579aa) g.18:43438592A>C,c.7165T>G,p.L2389V
EPDR1(NM_017549,ependymin related 1,224aa) g.7:37989978A>C,c.655A>C,p.S219R
EPDR1(NM_017549,ependymin related 1,224aa) g.7:37989949C>T,c.626C>T,p.T209M
EPDR1(NM_017549,ependymin related 1,224aa) g.7:37988477T>C,c.305T>C,p.V102A
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47607081A>G,c.831A>G,p.I277M
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47606113A>G,c.577A>G,p.I193V
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47604176C>T,c.515C>T,p.T172M
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47602405G>C,c.458G>C,p.R153T
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47601106T>C,c.344T>C,p.M115T
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47601060G>A,c.298G>A,p.D100N
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47601029G>C,c.267G>C,p.Q89H
EPCAM(NM_002354,epithelial cell adhesion molecule,314aa) g.2:47601012C>T,c.250C>T,p.P84S
EPC2(NM_015630,enhancer of polycomb homolog 2 (Drosophila),807aa) g.2:149542531C>T,c.2312C>T,p.P771L
EPC2(NM_015630,enhancer of polycomb homolog 2 (Drosophila),807aa) g.2:149528738A>G,c.1502A>G,p.N501S
EPC2(NM_015630,enhancer of polycomb homolog 2 (Drosophila),807aa) g.2:149520349A>G,c.926A>G,p.K309R
EPC2(NM_015630,enhancer of polycomb homolog 2 (Drosophila),807aa) g.2:149511650A>G,c.614A>G,p.N205S
EPC2(NM_015630,enhancer of polycomb homolog 2 (Drosophila),807aa) g.2:149447880A>G,c.251A>G,p.N84S
EPC1(NM_025209,enhancer of polycomb homolog 1 (Drosophila),836aa) g.10:32582606C>G,c.373G>C,p.V125L
EPC1(NM_025209,enhancer of polycomb homolog 1 (Drosophila),836aa) g.10:32580219T>C,c.847A>G,p.M283V
EPC1(NM_025209,enhancer of polycomb homolog 1 (Drosophila),836aa) g.10:32580205C>T,c.861G>A,p.M287I
EPC1(NM_025209,enhancer of polycomb homolog 1 (Drosophila),836aa) g.10:32576084T>C,c.1094A>G,p.N365S
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