基因名 突变
ENC1(NM_001256574,ectodermal-neural cortex 1 (with BTB domain),589aa) g.5:73931581T>C,c.730A>G,p.I244V
ENC1(NM_001256574,ectodermal-neural cortex 1 (with BTB domain),589aa) g.5:73930621C>T,c.1690G>A,p.V564M
ENAM(NM_031889,enamelin,1142aa) g.4:71510543G>T,c.3400G>T,p.V1134L
ENAM(NM_031889,enamelin,1142aa) g.4:71510463G>A,c.3320G>A,p.S1107N
ENAM(NM_031889,enamelin,1142aa) g.4:71510420C>T,c.3277C>T,p.P1093S
ENAM(NM_031889,enamelin,1142aa) g.4:71509672A>C,c.2529A>C,p.R843S
ENAM(NM_031889,enamelin,1142aa) g.4:71509431G>A,c.2288G>A,p.R763Q
ENAM(NM_031889,enamelin,1142aa) g.4:71509314C>T,c.2171C>T,p.P724L
ENAM(NM_031889,enamelin,1142aa) g.4:71509163G>A,c.2020G>A,p.E674K
ENAM(NM_031889,enamelin,1142aa) g.4:71509086T>C,c.1943T>C,p.I648T
ENAM(NM_031889,enamelin,1142aa) g.4:71508869T>C,c.1726T>C,p.F576L
ENAM(NM_031889,enamelin,1142aa) g.4:71508799C>G,c.1656C>G,p.I552M
ENAM(NM_031889,enamelin,1142aa) g.4:71508539G>A,c.1396G>A,p.V466I
ENAM(NM_031889,enamelin,1142aa) g.4:71508491C>T,c.1348C>T,p.P450S
ENAM(NM_031889,enamelin,1142aa) g.4:71508324A>T,c.1181A>T,p.Y394F
ENAM(NM_031889,enamelin,1142aa) g.4:71508308G>A,c.1165G>A,p.G389S
ENAM(NM_031889,enamelin,1142aa) g.4:71508215G>A,c.1072G>A,p.G358S
ENAM(NM_031889,enamelin,1142aa) g.4:71503556G>T,c.584G>T,p.G195V
ENAM(NM_031889,enamelin,1142aa) g.4:71500262G>A,c.448G>A,p.E150K
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225707104G>A,c.598C>T,p.R200W
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225706984G>A,c.718C>T,p.R240W
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225706917C>T,c.785G>A,p.R262H
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225700681A>G,c.1256T>C,p.I419T
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225700618C>G,c.1319G>C,p.G440A
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225688725G>A,c.1649C>T,p.T550M
ENAH(NM_001008493,enabled homolog (Drosophila),591aa) g.1:225685482C>T,c.1771G>A,p.A591T
EN2(NM_001427,engrailed homeobox 2,333aa) g.7:155251433C>T,c.361C>T,p.L121F
EN2(NM_001427,engrailed homeobox 2,333aa) g.7:155251100G>C,c.28G>C,p.E10Q
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