| 基因名 | 突变 |
|---|---|
| SOX7(NM_031439,SRY (sex determining region Y)-box 7,388aa) | g.8:10584030C>T,c.385G>A,p.V129M |
| SOX7(NM_031439,SRY (sex determining region Y)-box 7,388aa) | g.8:10583909G>C,c.506C>G,p.T169S |
| SOX7(NM_031439,SRY (sex determining region Y)-box 7,388aa) | g.8:10583782G>T,c.633C>A,p.D211E |
| SOX7(NM_031439,SRY (sex determining region Y)-box 7,388aa) | g.8:10583616C>T,c.799G>A,p.G267S |
| SOX6(NM_017508,SRY (sex determining region Y)-box 6,804aa) | g.11:16362593C>T,c.211G>A,p.D71N |
| SOX6(NM_017508,SRY (sex determining region Y)-box 6,804aa) | g.11:16340018T>C,c.428A>G,p.E143G |
| SOX6(NM_017508,SRY (sex determining region Y)-box 6,804aa) | g.11:16077414C>T,c.1021G>A,p.V341M |
| SOX6(NM_017508,SRY (sex determining region Y)-box 6,804aa) | g.11:16071435G>A,c.1187C>T,p.A396V |
| SOX6(NM_017508,SRY (sex determining region Y)-box 6,804aa) | g.11:16036505C>T,c.1643G>A,p.R548Q |
| SOX5(NM_152989,SRY (sex determining region Y)-box 5,750aa) | g.12:23757400T>G,c.1046A>C,p.Q349P |
| SOX4(NM_003107,SRY (sex determining region Y)-box 4,474aa) | g.6:21595712C>T,c.947C>T,p.A316V |
| SOX4(NM_003107,SRY (sex determining region Y)-box 4,474aa) | g.6:21594847C>G,c.82C>G,p.L28V |
| SOX3(NM_005634,SRY (sex determining region Y)-box 3,446aa) | g.X:139587212C>T,c.14G>A,p.R5Q |
| SOX3(NM_005634,SRY (sex determining region Y)-box 3,446aa) | g.X:139587069C>G,c.157G>C,p.V53L |
| SOX3(NM_005634,SRY (sex determining region Y)-box 3,446aa) | g.X:139586280C>T,c.946G>A,p.G316S |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157078924A>G,c.163T>C,p.C55R |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157078632G>A,c.455C>T,p.P152L |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157078402C>T,c.685G>A,p.E229K |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157075784T>C,c.1088A>G,p.N363S |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157073747G>T,c.1285C>A,p.Q429K |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157073705G>A,c.1327C>T,p.R443C |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157073657T>C,c.1375A>G,p.T459A |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157065439G>A,c.1679C>T,p.S560L |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157065430T>G,c.1688A>C,p.Q563P |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157065407C>T,c.1711G>A,p.V571I |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157065392T>C,c.1726A>G,p.R576G |
| SOX30(NM_178424,SRY (sex determining region Y)-box 30,753aa) | g.5:157053610T>C,c.2000A>G,p.N667S |
| SOX1(NM_005986,SRY (sex determining region Y)-box 1,391aa) | g.13:112723111C>T,c.1139C>T,p.A380V |