基因名 突变
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1248994G>A,c.757G>A,p.G253S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1248087G>A,c.442G>A,p.V148I
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1247854C>T,c.209C>T,p.P70L
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1247506C>T,c.199C>T,p.P67S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1247458C>T,c.151C>T,p.R51W
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1246941A>G,c.101A>G,p.E34G
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195538675C>T,c.14G>A,p.R5H
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195538669C>G,c.20G>C,p.R7T
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195538621G>A,c.68C>T,p.P23L
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195518330C>G,c.121G>C,p.A41P
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195518120T>G,c.331A>C,p.M111L
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195518119A>T,c.332T>A,p.M111K
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195518112_195518113insGTCTCCTGCGTAACA,c.338_339insTGTTACGCAGGAGAC,p.113ins5aa
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195518055C>T,c.396G>A,p.M132I
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195518002T>C,c.449A>G,p.N150S
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517909G>T,c.542C>A,p.T181K
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517909G>A,c.542C>T,p.T181I
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517553A>C,c.898T>G,p.F300V
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517508T>G,c.943A>C,p.T315P
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517321G>A,c.1130C>T,p.T377I
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517258G>A,c.1193C>T,p.T398I
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517183G>A,c.1268C>T,p.S423F
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517169T>C,c.1282A>G,p.I428V
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517060C>T,c.1391G>A,p.R464Q
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195517013A>G,c.1438T>C,p.F480L
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195516980A>G,c.1471T>C,p.S491P
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195516878T>C,c.1573A>G,p.T525A
MUC4(NM_018406,mucin 4, cell surface associated,5412aa) g.3:195516730G>A,c.1721C>T,p.T574I
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