| 基因名 | 突变 |
|---|---|
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147480056A>C,c.1132A>C,p.K378Q |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147480027G>A,c.1103G>A,p.S368N |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147477551C>T,c.1004C>T,p.A335V |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147475388C>T,c.802C>T,p.R268C |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147475386A>G,c.800A>G,p.Q267R |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147466001G>A,c.316G>A,p.D106N |
| SPINK5(NM_001127698,serine peptidase inhibitor, Kazal type 5,1094aa) | g.5:147443653C>T,c.46C>T,p.L16F |
| SPINK4(NM_014471,serine peptidase inhibitor, Kazal type 4,86aa) | g.9:33246696C>T,c.185C>T,p.T62M |
| SPINK4(NM_014471,serine peptidase inhibitor, Kazal type 4,86aa) | g.9:33246639C>T,c.128C>T,p.S43F |
| SPINK4(NM_014471,serine peptidase inhibitor, Kazal type 4,86aa) | g.9:33240231G>A,c.25G>A,p.A9T |
| SPINK4(NM_014471,serine peptidase inhibitor, Kazal type 4,86aa) | g.9:33240225G>A,c.19G>A,p.V7I |
| SPINK4(NM_014471,serine peptidase inhibitor, Kazal type 4,86aa) | g.9:33240217G>A,c.11G>A,p.R4H |
| SPINK4(NM_014471,serine peptidase inhibitor, Kazal type 4,86aa) | g.9:33240216C>T,c.10C>T,p.R4C |
| SPINK2(NM_001271718,serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor),134aa) | g.4:57687719C>T,c.110G>A,p.G37E |
| SPINK2(NM_001271718,serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor),134aa) | g.4:57687711T>C,c.118A>G,p.T40A |
| SPINK1(NM_003122,serine peptidase inhibitor, Kazal type 1,79aa) | g.5:147207678T>C,c.101A>G,p.N34S |
| SPINK1(NM_003122,serine peptidase inhibitor, Kazal type 1,79aa) | g.5:147207669T>C,c.110A>G,p.N37S |
| SPINK1(NM_003122,serine peptidase inhibitor, Kazal type 1,79aa) | g.5:147207616G>A,c.163C>T,p.P55S |
| SPINK1(NM_003122,serine peptidase inhibitor, Kazal type 1,79aa) | g.5:147207583A>G,c.194+2T>C,p.65Donor |
| SPINK14(NM_001001325,serine peptidase inhibitor, Kazal type 14 (putative),97aa) | g.5:147553843C>T,c.158C>T,p.T53M |
| SPINK13(NM_001040129,serine peptidase inhibitor, Kazal type 13 (putative),94aa) | g.5:147661742G>T,c.184G>T,p.A62S |
| SPINK13(NM_001040129,serine peptidase inhibitor, Kazal type 13 (putative),94aa) | g.5:147653924C>T,c.85C>T,p.R29C |
| SPIN3(NM_001010862,spindlin family, member 3,258aa) | g.X:57021244C>T,c.137G>A,p.R46Q |
| SPIN3(NM_001010862,spindlin family, member 3,258aa) | g.X:57020874A>C,c.507T>G,p.D169E |
| SPIDR(NM_001080394,scaffolding protein involved in DNA repair,915aa) | g.8:48641992T>C,c.2569T>C,p.S857P |
| SPIDR(NM_001080394,scaffolding protein involved in DNA repair,915aa) | g.8:48639846C>T,c.2426C>T,p.P809L |
| SPIDR(NM_001080394,scaffolding protein involved in DNA repair,915aa) | g.8:48626144C>T,c.2282C>T,p.P761L |
| SPIDR(NM_001080394,scaffolding protein involved in DNA repair,915aa) | g.8:48625376G>T,c.2130G>T,p.E710D |