| 基因名 | 突变 |
|---|---|
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32149712G>T,c.2281C>A,p.P761T |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32148555C>A,c.2518G>T,p.A840S |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32146665G>A,c.2542C>T,p.R848C |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32145693C>T,c.2620G>A,p.G874R |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32138045G>A,c.3077C>T,p.P1026L |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32133177G>A,c.3356C>T,p.P1119L |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32126680C>T,c.3812G>A,p.R1271Q |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32126672C>T,c.3820G>A,p.A1274T |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32121026C>G,c.4179G>C,p.K1393N |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32119619C>A,c.4383G>T,p.R1461S |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32119605A>C,c.4397T>G,p.M1466R |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32119590G>T,c.4412C>A,p.A1471D |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32118448T>G,c.4619A>C,p.Q1540P |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32118304G>A,c.4763C>T,p.P1588L |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101832116G>A,c.4115G>A,p.R1372Q |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101832101A>G,c.4100A>G,p.Y1367C |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101832065C>T,c.4064C>T,p.P1355L |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101831995G>A,c.3994G>A,p.V1332I |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101830911A>G,c.3912A>G,p.I1304M |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101825372C>T,c.3632C>T,p.A1211V |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101824573C>T,c.3578C>T,p.A1193V |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101824353G>A,c.3503G>A,p.R1168H |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101824352C>T,c.3502C>T,p.R1168C |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101817650C>T,c.3188C>T,p.P1063L |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101817602G>A,c.3140G>A,p.G1047D |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101816909A>G,c.3002A>G,p.K1001R |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101816858G>C,c.2951G>C,p.G984A |
| COL15A1(NM_001855,collagen, type XV, alpha 1,1388aa) | g.9:101812005C>G,c.2827C>G,p.P943A |