| 基因名 | 突变 |
|---|---|
| XPNPEP2(NM_003399,X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound,674aa) | g.X:128886229C>T,c.925C>T,p.R309C |
| XPNPEP2(NM_003399,X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound,674aa) | g.X:128884502G>T,c.696G>T,p.K232N |
| XPNPEP2(NM_003399,X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound,674aa) | g.X:128884473G>A,c.667G>A,p.V223I |
| XPNPEP2(NM_003399,X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound,674aa) | g.X:128884450C>T,c.644C>T,p.T215I |
| XPNPEP2(NM_003399,X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound,674aa) | g.X:128878004A>G,c.191A>G,p.Q64R |
| XPNPEP2(NM_003399,X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound,674aa) | g.X:128876116C>G,c.82C>G,p.L28V |
| XPNPEP1(NM_020383,X-prolyl aminopeptidase (aminopeptidase P) 1, soluble,666aa) | g.10:111667495G>C,c.200C>G,p.T67S |
| XPNPEP1(NM_020383,X-prolyl aminopeptidase (aminopeptidase P) 1, soluble,666aa) | g.10:111643840C>G,c.815G>C,p.G272A |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14220023G>C,c.46C>G,p.L16V |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14214561A>T,c.105T>A,p.D35E |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14214524G>A,c.142C>T,p.L48F |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14214463T>A,c.203A>T,p.D68V |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14214404T>C,c.262A>G,p.I88V |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14209787G>A,c.506C>T,p.T169M |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14200382G>T,c.1001C>A,p.P334H |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199969_14199970insG,c.1413_1414insC,p.471fs |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199940C>A,c.1443G>T,p.K481N |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199908C>T,c.1475G>A,p.R492H |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199887G>A,c.1496C>T,p.A499V |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199844C>G,c.1539G>C,p.M513I |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199603G>A,c.1780C>T,p.R594C |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14199542A>G,c.1841T>C,p.F614S |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14197856C>T,c.2012G>A,p.R671H |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14187631G>C,c.2633C>G,p.A878G |
| XPC(NM_004628,xeroderma pigmentosum, complementation group C,940aa) | g.3:14187449G>T,c.2815C>A,p.Q939K |
| XPA(NM_000380,xeroderma pigmentosum, complementation group A,273aa) | g.9:100451916C>T,c.289G>A,p.V97I |
| XPA(NM_000380,xeroderma pigmentosum, complementation group A,273aa) | g.9:100447273T>G,c.605A>C,p.E202A |
| XPA(NM_000380,xeroderma pigmentosum, complementation group A,273aa) | g.9:100437843C>A,c.700G>T,p.V234L |