基因名 突变
INSL5(NM_005478,insulin-like 5,135aa) g.1:67266844G>A,c.61C>T,p.R21W
INSL5(NM_005478,insulin-like 5,135aa) g.1:67266843C>T,c.62G>A,p.R21Q
INSL5(NM_005478,insulin-like 5,135aa) g.1:67266802G>A,c.103C>T,p.R35W
INSL5(NM_005478,insulin-like 5,135aa) g.1:67266756T>A,c.149A>T,p.Q50L
INSL5(NM_005478,insulin-like 5,135aa) g.1:67263868G>A,c.236C>T,p.A79V
INSL5(NM_005478,insulin-like 5,135aa) g.1:67263817C>G,c.287G>C,p.G96A
INSL5(NM_005478,insulin-like 5,135aa) g.1:67263815G>A,c.289C>T,p.Q97X
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5233855C>A,c.398C>A,p.T133N
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5233807G>A,c.350G>A,p.R117H
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5233789G>A,c.332G>A,p.R111H
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5233788C>T,c.331C>T,p.R111C
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5231711G>A,c.188G>A,p.R63H
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5231605C>G,c.82C>G,p.L28V
INSL4(NM_002195,insulin-like 4 (placenta),139aa) g.9:5231539C>T,c.16C>T,p.R6W
INSL3(NM_001265587,insulin-like 3 (Leydig cell),157aa) g.19:17932297C>A,c.19G>T,p.A7S
INSL3(NM_001265587,insulin-like 3 (Leydig cell),157aa) g.19:17932138T>C,c.178A>G,p.T60A
INSL3(NM_001265587,insulin-like 3 (Leydig cell),157aa) g.19:17927801C>T,c.353G>A,p.R118H
INSL3(NM_001265587,insulin-like 3 (Leydig cell),157aa) g.19:17927687G>C,c.467C>G,p.T156S
INS-IGF2(NM_001042376,INS-IGF2 readthrough,200aa) g.11:2170468C>T,c.295G>A,p.G99S
INS-IGF2(NM_001042376,INS-IGF2 readthrough,200aa) g.11:2170443C>T,c.320G>A,p.R107Q
INS-IGF2(NM_001042376,INS-IGF2 readthrough,200aa) g.11:2169014A>G,c.431T>C,p.L144P
INSIG2(NM_016133,insulin induced gene 2,225aa) g.2:118865875G>A,c.655G>A,p.A219T
INSIG2(NM_016133,insulin induced gene 2,225aa) g.2:118864736A>G,c.607A>G,p.M203V
INSIG1(NM_005542,insulin induced gene 1,277aa) g.7:155093367A>G,c.504A>G,p.I168M
INSIG1(NM_005542,insulin induced gene 1,277aa) g.7:155090359A>G,c.364A>G,p.I122V
INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) g.11:15262002G>A,c.1544G>A,p.R515H
INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) g.11:15257166A>G,c.1330A>G,p.N444D
INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) g.11:15243179G>A,c.1117G>A,p.V373M
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