| 基因名 | 突变 |
|---|---|
| SPRR2E(NM_001024209,small proline-rich protein 2E,72aa) | g.1:153066050A>C,c.178T>G,p.S60A |
| SPRR2D(NM_006945,small proline-rich protein 2D,72aa) | g.1:153012765T>C,c.58A>G,p.T20A |
| SPRR2D(NM_006945,small proline-rich protein 2D,72aa) | g.1:153012715G>T,c.108C>A,p.C36X |
| SPRR2D(NM_006945,small proline-rich protein 2D,72aa) | g.1:153012641G>A,c.182C>T,p.P61L |
| SPRR1B(NM_003125,small proline-rich protein 1B,89aa) | g.1:153004853C>T,c.32C>T,p.T11I |
| SPRR1A(NM_001199828,small proline-rich protein 1A,89aa) | g.1:152957887G>A,c.181G>A,p.V61I |
| SPRR1A(NM_001199828,small proline-rich protein 1A,89aa) | g.1:152957832C>A,c.126C>A,p.H42Q |
| SPRN(NM_001012508,shadow of prion protein homolog (zebrafish),151aa) | g.10:135237166G>A,c.20C>T,p.T7M |
| SPRN(NM_001012508,shadow of prion protein homolog (zebrafish),151aa) | g.10:135236917C>T,c.269G>A,p.R90K |
| SPR(NM_003124,sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase),261aa) | g.2:73118508C>T,c.628C>T,p.R210W |
| SPR(NM_003124,sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase),261aa) | g.2:73114673G>A,c.112G>A,p.V38I |
| SPRED3(NM_001042522,sprouty-related, EVH1 domain containing 3,410aa) | g.19:38886225C>A,c.673C>A,p.R225S |
| SPRED3(NM_001042522,sprouty-related, EVH1 domain containing 3,410aa) | g.19:38886145C>T,c.593C>T,p.T198M |
| SPRED3(NM_001042522,sprouty-related, EVH1 domain containing 3,410aa) | g.19:38885397C>A,c.538C>A,p.P180T |
| SPRED2(NM_181784,sprouty-related, EVH1 domain containing 2,418aa) | g.2:65561889C>T,c.223G>A,p.V75I |
| SPRED2(NM_181784,sprouty-related, EVH1 domain containing 2,418aa) | g.2:65543932C>T,c.524G>A,p.R175Q |
| SPRED2(NM_181784,sprouty-related, EVH1 domain containing 2,418aa) | g.2:65541087C>A,c.805G>T,p.V269L |
| SPRED2(NM_181784,sprouty-related, EVH1 domain containing 2,418aa) | g.2:65541063C>G,c.829G>C,p.G277R |
| SPRED1(NM_152594,sprouty-related, EVH1 domain containing 1,444aa) | g.15:38643456T>C,c.926T>C,p.V309A |
| SPRED1(NM_152594,sprouty-related, EVH1 domain containing 1,444aa) | g.15:38641627C>T,c.587C>T,p.T196I |
| SPRED1(NM_152594,sprouty-related, EVH1 domain containing 1,444aa) | g.15:38591665G>A,c.124G>A,p.V42I |
| SPRED1(NM_152594,sprouty-related, EVH1 domain containing 1,444aa) | g.15:38545416C>A,c.30C>A,p.N10K |
| SPRED1(NM_152594,sprouty-related, EVH1 domain containing 1,444aa) | g.15:38545412A>T,c.26A>T,p.D9V |
| SPPL2C(NM_175882,signal peptide peptidase like 2C,684aa) | g.17:43924292G>A,c.2020G>A,p.V674I |
| SPPL2C(NM_175882,signal peptide peptidase like 2C,684aa) | g.17:43924248C>T,c.1976C>T,p.T659I |
| SPPL2C(NM_175882,signal peptide peptidase like 2C,684aa) | g.17:43924200C>G,c.1928C>G,p.P643R |
| SPPL2C(NM_175882,signal peptide peptidase like 2C,684aa) | g.17:43924130G>A,c.1858G>A,p.G620R |
| SPPL2C(NM_175882,signal peptide peptidase like 2C,684aa) | g.17:43924074C>T,c.1802C>T,p.S601F |