| 基因名 | 突变 |
|---|---|
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8188812C>T,c.2812G>A,p.V938I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8188760G>A,c.2864C>T,p.P955L |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8188682C>T,c.2942G>A,p.R981Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8188437G>A,c.2993C>T,p.T998M |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8186249G>A,c.3104C>T,p.S1035F |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8183871G>A,c.3247C>T,p.R1083W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8182446C>A,c.3365G>T,p.G1122V |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8182160C>T,c.3479G>A,p.R1160Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8182053C>T,c.3586G>A,p.D1196N |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8181644T>C,c.3626A>G,p.Q1209R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8176945T>C,c.3877A>G,p.S1293G |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8176890C>G,c.3932G>C,p.G1311A |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8176640C>T,c.3976G>A,p.V1326I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8176579C>T,c.4037G>A,p.R1346H |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8176044C>T,c.4108G>A,p.V1370M |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8175953C>T,c.4199G>A,p.R1400Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8175836G>A,c.4226C>T,p.A1409V |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8175770T>A,c.4292A>T,p.N1431I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8174198C>T,c.4531G>A,p.G1511R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8174156G>A,c.4573C>T,p.R1525W |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8173108del,c.4633del,p.1545fs |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8171067C>T,c.4738G>A,p.V1580I |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8171016T>C,c.4789A>G,p.S1597G |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8168545C>T,c.4840G>A,p.G1614S |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8168538C>T,c.4847G>A,p.C1616Y |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8167716A>G,c.4981T>C,p.C1661R |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8167685C>T,c.5012G>A,p.R1671Q |
| FBN3(NM_032447,fibrillin 3,2809aa) | g.19:8162212C>T,c.5248G>A,p.A1750T |