| 基因名 | 突变 |
|---|---|
| FBLN5(NM_006329,fibulin 5,448aa) | g.14:92353630G>A,c.646C>T,p.P216S |
| FBLN5(NM_006329,fibulin 5,448aa) | g.14:92336686A>G,c.1229T>C,p.I410T |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13679319G>A,c.3596G>A,p.R1199Q |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13679318C>T,c.3595C>T,p.R1199W |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13679115C>T,c.3392C>T,p.A1131V |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13672888C>G,c.3145C>G,p.P1049A |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13672855G>A,c.3112G>A,p.G1038S |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13672274G>A,c.3044G>A,p.R1015H |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13670739G>A,c.2789G>A,p.R930H |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13670694G>A,c.2744G>A,p.R915H |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13670536A>G,c.2701A>G,p.T901A |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13670465C>T,c.2630C>T,p.T877M |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13670444C>T,c.2609C>T,p.P870L |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13661319G>A,c.2143G>A,p.V715M |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13655658C>T,c.1723C>T,p.R575W |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13655602A>G,c.1667A>G,p.E556G |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13655548A>G,c.1613A>G,p.N538S |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13651071G>A,c.1477G>A,p.V493I |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13613081C>T,c.1226C>T,p.P409L |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13613015A>C,c.1160A>C,p.N387T |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612936A>G,c.1081A>G,p.S361G |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612921G>A,c.1066G>A,p.V356M |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612786G>A,c.931G>A,p.A311T |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612633C>G,c.778C>G,p.L260V |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612508C>T,c.653C>T,p.A218V |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612459G>C,c.604G>C,p.E202Q |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612435G>A,c.580G>A,p.E194K |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612427G>A,c.572G>A,p.R191Q |