| 基因名 | 突变 |
|---|---|
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612351G>A,c.496G>A,p.G166S |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612286A>G,c.431A>G,p.H144R |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612224G>T,c.369G>T,p.E123D |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612199C>T,c.344C>T,p.P115L |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612111G>A,c.256G>A,p.G86S |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612108G>A,c.253G>A,p.A85T |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612090G>A,c.235G>A,p.V79M |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13612055G>A,c.200G>A,p.G67D |
| FBLN2(NM_001165035,fibulin 2,1231aa) | g.3:13611884C>T,c.29C>T,p.A10V |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45996298A>G,c.2084A>G,p.H695R |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45972941G>T,c.1925G>T,p.R642L |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45970414C>T,c.1721C>T,p.T574M |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45946488G>A,c.1690G>A,p.A564T |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45943012G>A,c.1369G>A,p.V457I |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45939367G>T,c.1282G>T,p.V428L |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45938125C>T,c.1157C>T,p.T386M |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45937253G>C,c.1066+1G>C,p.356Donor |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45923827A>G,c.422A>G,p.Q141R |
| FBLN1(NM_006486,fibulin 1,703aa) | g.22:45914567G>T,c.85G>T,p.A29S |
| FBLIM1(NM_017556,filamin binding LIM protein 1,373aa) | g.1:16101228T>C,c.827T>C,p.I276T |
| FBLIM1(NM_017556,filamin binding LIM protein 1,373aa) | g.1:16097048G>A,c.686G>A,p.R229Q |
| FBLIM1(NM_017556,filamin binding LIM protein 1,373aa) | g.1:16096934C>T,c.572C>T,p.S191F |
| FBLIM1(NM_017556,filamin binding LIM protein 1,373aa) | g.1:16091699C>T,c.221C>T,p.P74L |
| FBLIM1(NM_017556,filamin binding LIM protein 1,373aa) | g.1:16091593C>T,c.115C>T,p.R39C |
| FBLIM1(NM_017556,filamin binding LIM protein 1,373aa) | g.1:16091591G>A,c.113G>A,p.R38Q |
| FBF1(NM_001080542,Fas (TNFRSF6) binding factor 1,1133aa) | g.17:73929161G>A,c.40C>T,p.P14S |
| FBF1(NM_001080542,Fas (TNFRSF6) binding factor 1,1133aa) | g.17:73926121C>A,c.194G>T,p.G65V |
| FBF1(NM_001080542,Fas (TNFRSF6) binding factor 1,1133aa) | g.17:73922941T>C,c.451A>G,p.R151G |