基因名 突变
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228135631C>T,c.1721C>T,p.P574L
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228131169A>G,c.1352A>G,p.H451R
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228128568G>A,c.1223G>A,p.R408H
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228121101G>T,c.976G>T,p.D326Y
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228118867G>A,c.805G>A,p.E269K
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228113175A>G,c.485A>G,p.E162G
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228111435T>C,c.422T>C,p.L141P
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228110691C>A,c.346C>A,p.P116T
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228102723G>C,c.127G>C,p.G43R
COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) g.2:228029515C>T,c.73C>T,p.P25S
COL4A3BP(NM_001130105,collagen, type IV, alpha 3 (Goodpasture antigen) binding protein,752aa) g.5:74807200G>C,c.217C>G,p.R73G
COL4A3BP(NM_001130105,collagen, type IV, alpha 3 (Goodpasture antigen) binding protein,752aa) g.5:74807116C>T,c.301G>A,p.D101N
COL4A3BP(NM_001130105,collagen, type IV, alpha 3 (Goodpasture antigen) binding protein,752aa) g.5:74721308C>T,c.857G>A,p.R286H
COL4A3BP(NM_001130105,collagen, type IV, alpha 3 (Goodpasture antigen) binding protein,752aa) g.5:74715213C>T,c.1016G>A,p.R339H
COL4A3BP(NM_001130105,collagen, type IV, alpha 3 (Goodpasture antigen) binding protein,752aa) g.5:74712733G>A,c.1189C>T,p.R397C
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111164485G>A,c.5086G>A,p.G1696S
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111164467G>A,c.5068G>A,p.A1690T
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111164432C>T,c.5033C>T,p.T1678I
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111160431G>A,c.4744G>A,p.E1582K
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111160305C>T,c.4618C>T,p.R1540W
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111158815G>A,c.4456G>A,p.V1486I
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111158809C>T,c.4450C>T,p.R1484C
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111156311T>C,c.4256T>C,p.M1419T
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111156250G>A,c.4195G>A,p.V1399I
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111156196G>A,c.4141G>A,p.A1381T
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111143645G>A,c.3412G>A,p.V1138M
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111143601A>G,c.3368A>G,p.E1123G
COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) g.13:111141841C>T,c.3257C>T,p.A1086V
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