| 基因名 | 突变 |
|---|---|
| SCIN(NM_001112706,scinderin,715aa) | g.7:12675713T>C,c.1363T>C,p.F455L |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12675698C>A,c.1348C>A,p.L450M |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12675690G>A,c.1340G>A,p.R447Q |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12668760T>A,c.1232T>A,p.V411D |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12668733G>A,c.1205G>A,p.R402H |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12666378T>C,c.1151T>C,p.M384T |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12666344T>A,c.1117T>A,p.F373I |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12620766A>G,c.436A>G,p.R146G |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12617836A>G,c.347A>G,p.K116R |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12610594A>G,c.182A>G,p.H61R |
| SCIN(NM_001112706,scinderin,715aa) | g.7:12610578C>T,c.166C>T,p.R56X |
| SCIMP(NM_207103,SLP adaptor and CSK interacting membrane protein,145aa) | g.17:5126630C>T,c.143G>A,p.R48Q |
| SCIMP(NM_207103,SLP adaptor and CSK interacting membrane protein,145aa) | g.17:5114226G>A,c.308C>T,p.P103L |
| SCHIP1(NM_014575,schwannomin interacting protein 1,487aa) | g.3:159604096_159604097insC,c.979_980insC,p.327fs |
| SCGN(NM_006998,secretagogin, EF-hand calcium binding protein,276aa) | g.6:25661861C>T,c.235C>T,p.R79W |
| SCGN(NM_006998,secretagogin, EF-hand calcium binding protein,276aa) | g.6:25653678G>T,c.151G>T,p.D51Y |
| SCGB3A1(NM_052863,secretoglobin, family 3A, member 1,104aa) | g.5:180017690del,c.201del,p.67fs |
| SCGB2B2(NM_001025591,secretoglobin, family 2B, member 2,96aa) | g.19:35085417C>T,c.52G>A,p.V18I |
| SCGB2B2(NM_001025591,secretoglobin, family 2B, member 2,96aa) | g.19:35085112C>T,c.214G>A,p.V72M |
| SCGB2A2(NM_002411,secretoglobin, family 2A, member 2,93aa) | g.11:62038506C>T,c.209C>T,p.T70M |
| SCGB2A2(NM_002411,secretoglobin, family 2A, member 2,93aa) | g.11:62037726C>G,c.38C>G,p.S13C |
| SCGB1D4(NM_206998,secretoglobin, family 1D, member 4,83aa) | g.11:62064987C>A,c.199G>T,p.D67Y |
| SCGB1D2(NM_006551,secretoglobin, family 1D, member 2,90aa) | g.11:62010944T>C,c.239T>C,p.V80A |
| SCGB1D2(NM_006551,secretoglobin, family 1D, member 2,90aa) | g.11:62010938C>T,c.233C>T,p.A78V |
| SCGB1D2(NM_006551,secretoglobin, family 1D, member 2,90aa) | g.11:62010863C>T,c.158C>T,p.P53L |
| SCGB1D1(NM_006552,secretoglobin, family 1D, member 1,90aa) | g.11:61960880G>A,c.253G>A,p.A85T |
| SCGB1D1(NM_006552,secretoglobin, family 1D, member 1,90aa) | g.11:61959668G>A,c.196G>A,p.V66M |
| SCGB1D1(NM_006552,secretoglobin, family 1D, member 1,90aa) | g.11:61959636C>T,c.164C>T,p.A55V |