| 基因名 | 突变 |
|---|---|
| SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) | g.7:878592A>G,c.235A>G,p.S79G |
| SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) | g.7:878584G>C,c.227G>C,p.G76A |
| SUN1(NM_001130965,Sad1 and UNC84 domain containing 1,785aa) | g.7:878560G>A,c.203G>A,p.G68D |
| SUMO4(NM_001002255,small ubiquitin-like modifier 4,95aa) | g.6:149721690G>A,c.163G>A,p.V55M |
| SUMO4(NM_001002255,small ubiquitin-like modifier 4,95aa) | g.6:149721528A>G,c.1A>G,p.M1V |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56146188C>T,c.865C>T,p.R289W |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56146177A>G,c.854A>G,p.N285S |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56145825G>A,c.679G>A,p.D227N |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56144566G>A,c.632G>A,p.R211H |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56141888G>A,c.418G>A,p.V140M |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56140760_56140761del,c.352_353del,p.118fs |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56136260C>A,c.210C>A,p.D70E |
| SUMF2(NM_015411,sulfatase modifying factor 2,320aa) | g.7:56136232C>G,c.182C>G,p.T61R |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4508892C>T,c.38G>A,p.C13Y |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4508871A>C,c.59T>G,p.L20R |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4508802G>A,c.128C>T,p.A43V |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4508742C>T,c.188G>A,p.S63N |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4459778G>A,c.641C>T,p.A214V |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4458816G>A,c.836C>T,p.A279V |
| SUMF1(NM_182760,sulfatase modifying factor 1,374aa) | g.3:4452628T>C,c.875A>G,p.Y292C |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37415666A>C,c.4T>G,p.C2G |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37415603C>T,c.67G>A,p.A23T |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37414586A>T,c.110T>A,p.V37D |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37414548T>C,c.148A>G,p.K50E |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37410599A>C,c.257T>G,p.L86X |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37406716T>C,c.300A>G,p.I100M |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37406711C>T,c.305G>A,p.R102Q |
| SULT6B1(NM_001032377,sulfotransferase family, cytosolic, 6B, member 1,265aa) | g.2:37406680C>G,c.336G>C,p.L112F |