
| 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 |