| 基因名 | 突变 |
|---|---|
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105794415C>T,c.3730G>A,p.D1244N |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105794406G>A,c.3739C>T,p.R1247W |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105794044G>A,c.3815C>T,p.P1272L |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793951C>T,c.3908G>A,p.R1303Q |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793895C>T,c.3964G>A,p.G1322S |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793835C>T,c.4024G>A,p.G1342S |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793826C>T,c.4033G>A,p.G1345R |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793778C>T,c.4081G>A,p.G1361R |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793750T>C,c.4109A>G,p.D1370G |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105793739T>C,c.4120A>G,p.N1374D |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105792717G>A,c.4304C>T,p.A1435V |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105791997G>A,c.4490C>T,p.P1497L |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32167758C>T,c.37G>A,p.G13S |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32165495G>T,c.185C>A,p.T62K |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32164184G>A,c.290C>T,p.P97L |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32164127G>A,c.347C>T,p.T116M |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32163664C>T,c.500G>A,p.R167H |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32163632G>T,c.532C>A,p.R178S |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32163574C>T,c.590G>A,p.R197Q |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32158076T>C,c.1193A>G,p.K398R |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32157239C>T,c.1262G>A,p.R421Q |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32157065G>C,c.1351C>G,p.P451A |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32155401C>T,c.1561G>A,p.V521I |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32154650C>A,c.1656+1G>T,p.552Donor |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32151331T>C,c.1925A>G,p.Q642R |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32150143G>C,c.2141C>G,p.A714G |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32149760C>T,c.2233G>A,p.G745S |
| COL16A1(NM_001856,collagen, type XVI, alpha 1,1604aa) | g.1:32149721G>C,c.2272C>G,p.P758A |