| 基因名 | 突变 |
|---|---|
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48779550G>A,c.3422C>T,p.P1141L |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48779530G>C,c.3442C>G,p.P1148A |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48764778C>T,c.4306G>A,p.V1436M |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48748913C>T,c.5343G>A,p.V1781V |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48741040T>C,c.5596A>G,p.I1866V |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48729161C>A,c.6493G>T,p.V2165L |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48725102C>T,c.6700G>A,p.V2234M |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48720608C>T,c.6932G>A,p.R2311H |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48720553G>C,c.6987C>G,p.D2329E |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48718025C>T,c.7241G>A,p.R2414Q |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48717640T>C,c.7379A>G,p.K2460R |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48714152T>G,c.7567A>C,p.I2523L |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48713793C>T,c.7661G>A,p.R2554Q |
| FBN1(NM_000138,fibrillin 1,2871aa) | g.15:48703417C>T,c.8386G>A,p.E2796K |
| FBL(NM_001436,fibrillarin,321aa) | g.19:40331367C>T,c.71G>A,p.R24H |
| FBL(NM_001436,fibrillarin,321aa) | g.19:40331068G>A,c.269C>T,p.P90L |
| FBL(NM_001436,fibrillarin,321aa) | g.19:40325327C>T,c.922G>A,p.V308M |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112944997G>A,c.1234G>A,p.V412I |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112944907G>A,c.1144G>A,p.G382S |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112944889G>A,c.1126G>A,p.V376M |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112944857G>A,c.1094G>A,p.R365Q |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112944856C>T,c.1093C>T,p.R365X |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112942817A>G,c.848A>G,p.Q283R |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112940424G>A,c.727G>A,p.A243T |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112939387G>A,c.604G>A,p.A202T |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112922697G>A,c.355G>A,p.V119M |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112922638T>A,c.296T>A,p.V99E |
| FBLN7(NM_153214,fibulin 7,439aa) | g.2:112922601C>G,c.259C>G,p.P87A |