基因名 突变
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1262189C>T,c.4079C>T,p.T1360M
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1262084C>T,c.3974C>T,p.P1325L
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1261563C>T,c.3928C>T,p.P1310S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1261561C>T,c.3926C>T,p.T1309M
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1261125A>C,c.3680A>C,p.Y1227S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1260114A>G,c.3311A>G,p.K1104R
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1258387G>A,c.3290G>A,p.R1097H
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1258365G>A,c.3268G>A,p.G1090S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1258327G>A,c.3230G>A,p.R1077H
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1258240C>T,c.3143C>T,p.A1048V
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1258197A>G,c.3100A>G,p.I1034V
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1258192A>T,c.3095A>T,p.N1032I
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1257668C>T,c.2933C>T,p.P978L
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1256588_1256589insC,c.2825_2826insC,p.942fs
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1256549A>C,c.2786A>C,p.N929T
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1256409G>A,c.2725G>A,p.D909N
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1255527G>A,c.2470G>A,p.V824M
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1255507G>A,c.2450G>A,p.R817Q
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1255486C>A,c.2429C>A,p.T810N
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1254407G>A,c.2230G>A,p.G744S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1253980A>G,c.2045A>G,p.D682G
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1253976A>G,c.2041A>G,p.S681G
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1253691C>T,c.1855C>T,p.R619W
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1252215C>T,c.1520C>T,p.T507M
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1251819G>A,c.1459G>A,p.G487S
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1251799C>T,c.1439C>T,p.A480V
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1251248G>A,c.1234G>A,p.G412R
MUC5B(NM_002458,mucin 5B, oligomeric mucus/gel-forming,5762aa) g.11:1249864C>A,c.845C>A,p.A282E
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