| 基因名 | 突变 |
|---|---|
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41148251G>A,c.1327G>A,p.G443S |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41148239G>A,c.1315G>A,p.E439K |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41148177G>A,c.1253G>A,p.R418H |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41146864G>A,c.1142G>A,p.R381H |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41146702G>A,c.1096G>A,p.E366K |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41146693G>A,c.1087G>A,p.A363T |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41146616C>T,c.1010C>T,p.P337L |
| SPINT1(NM_181642,serine peptidase inhibitor, Kunitz type 1,529aa) | g.15:41136885C>T,c.133C>T,p.P45S |
| SPINK8(NM_001080525,serine peptidase inhibitor, Kazal type 8 (putative),97aa) | g.3:48361027C>T,c.199G>A,p.V67I |
| SPINK8(NM_001080525,serine peptidase inhibitor, Kazal type 8 (putative),97aa) | g.3:48360992T>G,c.234A>C,p.K78N |
| SPINK8(NM_001080525,serine peptidase inhibitor, Kazal type 8 (putative),97aa) | g.3:48351395C>T,c.281G>A,p.C94Y |
| SPINK6(NM_205841,serine peptidase inhibitor, Kazal type 6,80aa) | g.5:147593497C>A,c.106C>A,p.P36T |
| SPINK6(NM_205841,serine peptidase inhibitor, Kazal type 6,80aa) | g.5:147582715C>T,c.56C>T,p.T19I |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147506593A>G,c.3005A>G,p.H1002R |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147506583A>G,c.2995A>G,p.K999E |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147505093T>C,c.2746T>C,p.C916R |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147503415G>A,c.2558G>A,p.R853Q |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147499891G>T,c.2475G>T,p.E825D |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147498551A>G,c.2243A>G,p.E748G |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147498054C>T,c.2167C>T,p.R723W |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147498019G>A,c.2132G>A,p.R711Q |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147494001G>A,c.1964G>A,p.G655D |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147488368G>A,c.1660G>A,p.E554K |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147486660C>A,c.1540C>A,p.H514N |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147486618C>T,c.1498C>T,p.R500W |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147484535G>A,c.1451G>A,p.R484K |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147480955A>G,c.1258A>G,p.K420E |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147480080G>A,c.1156G>A,p.D386N |