| 基因名 | 突变 |
|---|---|
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109764875_109764877del,c.1039_1041del,p.347del |
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109764535G>T,c.795G>T,p.R265S |
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109764516C>T,c.776C>T,p.T259I |
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109764222G>A,c.667G>A,p.V223I |
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109763464C>T,c.370C>T,p.H124Y |
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109762332C>T,c.8C>T,p.P3L |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415713G>A,c.1772G>A,p.R591H |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415704C>T,c.1763C>T,p.T588M |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415616G>A,c.1675G>A,p.V559I |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415539C>T,c.1598C>T,p.P533L |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415475G>A,c.1534G>A,p.V512M |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415463G>A,c.1522G>A,p.G508R |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415259G>A,c.1474G>A,p.G492S |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6415245C>T,c.1460C>T,p.A487V |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6414911G>A,c.1328G>A,p.R443Q |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6413377G>A,c.1082G>A,p.R361H |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6413290C>G,c.995C>G,p.P332R |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6413182G>A,c.887G>A,p.R296Q |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6413167G>A,c.872G>A,p.R291H |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6413139C>A,c.844C>A,p.P282T |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6412854C>T,c.559C>T,p.P187S |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6412635G>A,c.340G>A,p.V114M |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6411936_6411941del,c.108_113del,p.36_38del |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6411935T>C,c.107T>C,p.V36A |
| SMPD1(NM_000543,sphingomyelin phosphodiesterase 1, acid lysosomal,631aa) | g.11:6411836G>A,c.8G>A,p.R3H |
| SMOX(NM_001270691,spermine oxidase,585aa) | g.20:4163483C>T,c.1357C>T,p.R453C |
| SMOX(NM_001270691,spermine oxidase,585aa) | g.20:4163472C>T,c.1346C>T,p.T449M |
| SMOX(NM_001270691,spermine oxidase,585aa) | g.20:4163028G>C,c.902G>C,p.R301P |