| 基因名 | 突变 |
|---|---|
| SMTNL2(NM_001114974,smoothelin-like 2,461aa) | g.17:4495663A>G,c.407A>G,p.D136G |
| SMTNL2(NM_001114974,smoothelin-like 2,461aa) | g.17:4488127G>A,c.227G>A,p.R76H |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57317542G>A,c.1442G>A,p.R481H |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57313798G>A,c.1166G>A,p.R389Q |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57313797C>T,c.1165C>T,p.R389X |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57313469C>G,c.1033C>G,p.R345G |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57313461G>A,c.1025G>A,p.R342Q |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57311371G>A,c.895G>A,p.G299R |
| SMTNL1(NM_001105565,smoothelin-like 1,494aa) | g.11:57310828C>T,c.713C>T,p.A238V |
| SMS(NM_004595,spermine synthase,366aa) | g.X:21996141C>T,c.569C>T,p.T190I |
| SMR3B(NM_006685,submaxillary gland androgen regulated protein 3B,79aa) | g.4:71255465C>T,c.140C>T,p.P47L |
| SMR3B(NM_006685,submaxillary gland androgen regulated protein 3B,79aa) | g.4:71255425C>G,c.100C>G,p.P34A |
| SMR3B(NM_006685,submaxillary gland androgen regulated protein 3B,79aa) | g.4:71255404_71255405insG,c.79_80insG,p.27fs |
| SMR3A(NM_012390,submaxillary gland androgen regulated protein 3A,134aa) | g.4:71232701C>T,c.395C>T,p.P132L |
| SMR3A(NM_012390,submaxillary gland androgen regulated protein 3A,134aa) | g.4:71232520G>A,c.214G>A,p.G72S |
| SMR3A(NM_012390,submaxillary gland androgen regulated protein 3A,134aa) | g.4:71232496C>T,c.190C>T,p.P64S |
| SMR3A(NM_012390,submaxillary gland androgen regulated protein 3A,134aa) | g.4:71232430T>C,c.124T>C,p.C42R |
| SMR3A(NM_012390,submaxillary gland androgen regulated protein 3A,134aa) | g.4:71232388G>A,c.82G>A,p.G28R |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28285338C>T,c.1357C>T,p.L453F |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28285155T>C,c.1174T>C,p.Y392H |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282533T>G,c.945T>G,p.N315K |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282309G>A,c.805G>A,p.V269I |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282307G>A,c.803G>A,p.R268H |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282292T>C,c.788T>C,p.V263A |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282271A>G,c.767A>G,p.N256S |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282259G>A,c.755G>A,p.R252Q |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28282194G>A,c.691-1G>A,p.231Acceptor |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28279813T>C,c.461T>C,p.I154T |