| 基因名 | 突变 |
|---|---|
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24531581G>A,c.698C>T,p.T233I |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24531533C>T,c.746G>A,p.R249Q |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24531519T>C,c.760A>G,p.T254A |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24524958C>T,c.871G>A,p.V291I |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24522944G>A,c.1178C>T,p.A393V |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24522800C>T,c.1322G>A,p.R441K |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24521652C>T,c.1376G>A,p.R459H |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24498698G>C,c.1965C>G,p.N655K |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24484479C>T,c.2488G>A,p.A830T |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24483997G>T,c.2660C>A,p.S887Y |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24483979C>G,c.2678G>C,p.G893A |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24477250T>C,c.2939A>G,p.Y980C |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24443897T>C,c.3616A>G,p.I1206V |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24440870G>A,c.3712C>T,p.R1238C |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24439048A>G,c.3860T>C,p.I1287T |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24435599G>A,c.4009C>T,p.R1337W |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24432835T>G,c.4325A>C,p.Y1442S |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24432793T>C,c.4367A>G,p.N1456S |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24431184C>T,c.4600G>A,p.A1534T |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24431127T>G,c.4657A>C,p.K1553Q |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24431124G>A,c.4660C>T,p.R1554C |
| ITSN2(NM_006277,intersectin 2,1697aa) | g.2:24431123C>T,c.4661G>A,p.R1554H |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35239562A>G,c.4100A>G,p.K1367R |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35208804A>G,c.3529A>G,p.N1177D |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35208777G>A,c.3502G>A,p.A1168T |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35206723C>T,c.3464C>T,p.A1155V |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35206669G>A,c.3410G>A,p.S1137N |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35201942A>G,c.3244A>G,p.I1082V |