| 基因名 | 突变 |
|---|---|
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137707473G>A,c.4066G>A,p.A1356T |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137706719C>G,c.3983C>G,p.P1328R |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137705831C>T,c.3855C>T,p.G1285G |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137703346C>T,c.3591C>T,p.D1197D |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137694741C>T,c.3014C>T,p.T1005M |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137693830C>A,c.2983C>A,p.P995T |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137688701A>G,c.2852A>G,p.N951S |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137681049G>A,c.2695G>A,p.G899S |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137676914C>G,c.2564C>G,p.P855R |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137674521C>T,c.2439C>T,p.D813D |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137658325C>T,c.2114C>T,p.P705L |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137657580C>T,c.2088C>T,p.P696P |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137650103C>T,c.1896C>T,p.F632F |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137642654G>A,c.1588G>A,p.G530S |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137623484C>T,c.1307C>T,p.A436V |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137623349C>T,c.1172C>T,p.P391L |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137622320A>G,c.1163A>G,p.N388S |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137620579G>A,c.850G>A,p.E284K |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137619218C>T,c.761C>T,p.S254L |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137593099G>A,c.574G>A,p.D192N |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137593051A>C,c.526A>C,p.N176H |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137593039G>A,c.514G>A,p.V172I |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137591886G>A,c.409G>A,p.V137I |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137591855G>T,c.378G>T,p.Q126H |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137591755C>T,c.278C>T,p.A93V |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137582841C>T,c.193C>T,p.R65W |
| COL5A1(NM_001278074,collagen, type V, alpha 1,1838aa) | g.9:137582797A>C,c.149A>C,p.N50T |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107462929G>A,c.323C>T,p.P108L |