| 基因名 | 突变 |
|---|---|
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161788A>G,c.5390T>C,p.L1797P |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161780C>G,c.5398G>C,p.G1800R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161777C>T,c.5401G>A,p.G1801R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161451G>A,c.5416C>T,p.R1806W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161450C>T,c.5417G>A,p.R1806Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161438C>T,c.5429G>A,p.R1810Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8161366C>T,c.5501G>A,p.R1834H |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8160956C>T,c.5548G>A,p.E1850K |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8160897G>C,c.5607C>G,p.N1869K |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8160334G>A,c.5710C>T,p.L1904F |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8159362G>T,c.5873C>A,p.P1958H |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8159339G>C,c.5896C>G,p.H1966D |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8156466C>T,c.5914G>A,p.E1972K |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8155130G>A,c.6037C>T,p.R2013W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8151993C>T,c.6722G>A,p.R2241Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8151138G>A,c.6826C>T,p.R2276W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8151132C>G,c.6832G>C,p.D2278H |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8151095G>A,c.6869C>T,p.T2290I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8150427C>T,c.6907G>A,p.E2303K |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8150393C>T,c.6941G>A,p.S2314N |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8150382C>T,c.6952G>A,p.A2318T |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8150331G>A,c.7003C>T,p.R2335C |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8145929G>A,c.7411C>T,p.R2471C |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8145928C>T,c.7412G>A,p.R2471H |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8140232G>A,c.7517C>T,p.P2506L |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8138104C>T,c.7780G>A,p.V2594I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8138054C>A,c.7830G>T,p.E2610D |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8138041C>T,c.7843G>A,p.A2615T |