| 基因名 | 突变 |
|---|---|
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189975040T>A,c.233A>T,p.D78V |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189940142T>G,c.1081A>C,p.M361L |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189933588G>A,c.1181C>T,p.A394V |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189932993C>T,c.1261G>A,p.A421T |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189932953G>A,c.1301C>T,p.T434M |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189932764G>A,c.1378C>T,p.P460S |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189931144A>G,c.1535T>C,p.V512A |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189918622G>A,c.2498C>T,p.P833L |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189916131G>C,c.2846C>G,p.S949C |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189916123G>A,c.2854C>T,p.R952C |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189916110C>G,c.2867G>C,p.R956P |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189915371G>A,c.2963C>T,p.T988M |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189914156T>G,c.3064A>C,p.T1022P |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189914122G>A,c.3098C>T,p.P1033L |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189907882G>A,c.3466C>T,p.P1156S |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189904234G>C,c.3689C>G,p.T1230R |
| COL5A2(NM_000393,collagen, type V, alpha 2,1499aa) | g.2:189898934A>T,c.4362T>A,p.N1454K |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137727030G>A,c.5350G>A,p.A1784T |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137726973C>T,c.5293C>T,p.R1765C |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137726950C>T,c.5270C>T,p.T1757M |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137721967G>T,c.5081G>T,p.R1694L |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137716653G>A,c.4906G>A,p.A1636T |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137716561C>T,c.4814C>T,p.A1605V |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137716498G>A,c.4751G>A,p.R1584Q |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137710863C>T,c.4410C>T,p.P1470P |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137710725C>T,c.4370C>T,p.P1457L |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137708884C>T,c.4135C>T,p.P1379S |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137707833C>T,c.4121C>T,p.T1374M |