| 基因名 | 突变 |
|---|---|
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71707097G>A,c.2024G>A,p.R675Q |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71690231G>A,c.1573G>A,p.V525M |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71690223C>T,c.1565C>T,p.P522L |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71690190C>T,c.1532C>T,p.P511L |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71684726G>A,c.1259G>A,p.R420H |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71683573G>T,c.1213G>T,p.D405Y |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71662507G>A,c.784G>A,p.E262K |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71658508G>A,c.770G>A,p.R257Q |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71658478G>A,c.740G>A,p.R247Q |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71640274G>A,c.451G>A,p.A151T |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71582188C>T,c.358C>T,p.P120S |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71582134C>T,c.304C>T,p.L102F |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71562415G>T,c.236G>T,p.R79L |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75904624T>G,c.113A>C,p.E38A |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75904564G>A,c.173C>T,p.T58M |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75899061G>A,c.695C>T,p.T232M |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75890874T>G,c.1945A>C,p.K649Q |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75887651A>T,c.2165T>A,p.V722E |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75887541G>A,c.2275C>T,p.P759S |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75887442C>T,c.2374G>A,p.V792I |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75884928C>T,c.2536G>A,p.V846I |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75875492C>T,c.2714G>A,p.R905H |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75875445T>C,c.2761A>G,p.I921V |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75875327G>A,c.2879C>T,p.T960M |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75875241C>T,c.2965G>A,p.G989R |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75866093G>C,c.3130C>G,p.P1044A |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75862112C>T,c.3652G>A,p.V1218M |
| COL12A1(NM_004370,collagen, type XII, alpha 1,3063aa) | g.6:75862093C>T,c.3671G>A,p.R1224H |