| Genename | Variants |
|---|---|
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990710C>T,c.1499G>A,p.R500Q |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990614C>T,c.1595G>A,p.S532N |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990596T>C,c.1613A>G,p.K538R |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990582G>A,c.1627C>T,p.R543W |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990377G>C,c.1832C>G,p.A611G |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990371A>G,c.1838T>C,p.L613S |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990338C>T,c.1871G>A,p.R624H |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990113G>A,c.2096C>T,p.A699V |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39990012G>A,c.2197C>T,p.R733C |
| EMILIN3(NM_052846,elastin microfibril interfacer 3,766aa) | g.20:39989978C>T,c.2231G>A,p.R744H |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2913082T>C,c.2842T>C,p.Y948H |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2909700C>T,c.2707C>T,p.P903S |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2907024T>C,c.2603T>C,p.V868A |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2892430G>A,c.2305G>A,p.V769I |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2891917G>A,c.1792G>A,p.E598K |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2891899A>G,c.1774A>G,p.R592G |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2891886C>G,c.1761C>G,p.N587K |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2891725C>T,c.1600C>T,p.R534W |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2891083A>C,c.958A>C,p.S320R |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2890900A>G,c.775A>G,p.M259V |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2890859C>T,c.734C>T,p.T245M |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2890796G>A,c.671G>A,p.R224Q |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2890715C>T,c.590C>T,p.T197M |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2890702C>T,c.577C>T,p.R193X |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2890649G>A,c.524G>A,p.G175E |
| EMILIN2(NM_032048,elastin microfibril interfacer 2,1053aa) | g.18:2885080G>A,c.376G>A,p.V126M |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27308159G>A,c.2707G>A,p.E903K |
| EMILIN1(NM_007046,elastin microfibril interfacer 1,1016aa) | g.2:27306853A>G,c.2414A>G,p.H805R |