| 基因名 | 突变 |
|---|---|
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127670915C>T,c.3920G>A,p.R1307H |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127668685G>T,c.4141C>A,p.H1381N |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127666364T>C,c.4246A>G,p.T1416A |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127666312C>T,c.4298G>A,p.R1433H |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127666298C>T,c.4312G>A,p.E1438K |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127641254G>A,c.5623C>T,p.R1875C |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127625639A>G,c.6446T>C,p.V2149A |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127624136A>G,c.6751T>C,p.C2251R |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127623047G>A,c.6833C>T,p.T2278M |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127622491T>C,c.6931A>G,p.M2311V |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127614491A>G,c.7181T>C,p.I2394T |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127613625C>T,c.7418G>A,p.R2473Q |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127609633G>A,c.7739C>T,p.S2580L |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127609564A>G,c.7808T>C,p.F2603S |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127597460T>G,c.8332A>C,p.K2778Q |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127597441G>A,c.8351C>T,p.P2784L |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127595366G>C,c.8520C>G,p.N2840K |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48936888C>T,c.79G>A,p.A27T |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48826343C>T,c.796G>A,p.V266I |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48808430G>A,c.1277C>T,p.P426L |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48807637C>T,c.1415G>A,p.C472Y |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48797307A>G,c.1875T>C,p.N625N |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48796041C>T,c.2056G>A,p.A686T |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48787397T>C,c.2600A>G,p.N867S |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48782072T>C,c.3058A>G,p.T1020A |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48780631T>C,c.3142A>G,p.I1048V |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48780378del,c.3269del,p.1090fs |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48779562C>T,c.3410G>A,p.R1137H |