| 基因名 | 突变 |
|---|---|
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8138038C>T,c.7846G>A,p.G2616R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8138001G>A,c.7883C>T,p.T2628M |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8131134G>A,c.8099C>T,p.A2700V |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8131054G>A,c.8179C>T,p.R2727W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8131003C>T,c.8230G>A,p.G2744R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8130913G>A,c.8320C>T,p.R2774W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8130867G>T,c.8366C>A,p.P2789Q |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127873094G>A,c.203C>T,p.A68V |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127863579G>A,c.518C>T,p.T173I |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127800515A>G,c.728T>C,p.I243T |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127800456G>A,c.787C>T,p.R263W |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127782297C>T,c.829G>A,p.V277I |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127744469G>A,c.976C>T,p.P326S |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127744405C>T,c.1040G>A,p.R347H |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127728869C>A,c.1424G>T,p.G475V |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127727722C>G,c.1592G>C,p.G531A |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127714505T>C,c.1682A>G,p.H561R |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127713560C>G,c.1734G>C,p.E578D |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127712529T>C,c.1867A>G,p.T623A |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127705003T>C,c.2120A>G,p.Y707C |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127700358C>T,c.2363G>A,p.R788H |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127686655C>T,c.2717G>A,p.R906H |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127686571C>T,c.2801G>A,p.R934Q |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127685135C>T,c.2893G>A,p.V965I |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127680124C>T,c.3296G>A,p.R1099H |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127680079G>A,c.3341C>T,p.T1114M |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127671749T>C,c.3655A>G,p.M1219V |
| FBN2(NM_001999,fibrillin 2,2912aa) | g.5:127671694C>A,c.3710G>T,p.R1237L |