| 基因名 | 突变 |
|---|---|
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46318977C>T,c.630G>A,p.M210I |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46318955T>C,c.652A>G,p.M218V |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46313221C>T,c.842G>A,p.R281Q |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46311891G>A,c.911C>T,p.T304M |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46301074G>A,c.1444C>T,p.R482W |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46295158C>T,c.1651G>A,p.V551I |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46295140C>T,c.1669G>A,p.A557T |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46295011T>C,c.1798A>G,p.T600A |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46292910C>T,c.2021G>A,p.R674H |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46292902G>A,c.2029C>T,p.H677Y |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46292361C>T,c.2063G>A,p.G688D |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46292275T>C,c.2149A>G,p.N717D |
| SULF2(NM_001161841,sulfatase 2,870aa) | g.20:46291858T>C,c.2326A>G,p.T776A |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70551076C>G,c.2534C>G,p.P845R |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70551073G>A,c.2531G>A,p.R844K |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70551019A>T,c.2477A>T,p.H826L |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70550806C>T,c.2354C>T,p.T785M |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70541825G>A,c.2195G>A,p.R732Q |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70541791C>T,c.2161C>T,p.R721C |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70541785_70541787del,c.2155_2157del,p.719del |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70536402G>A,c.1820G>A,p.G607D |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70533375C>G,c.1483C>G,p.R495G |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70533361G>A,c.1469G>A,p.R490Q |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70533284T>G,c.1392T>G,p.I464M |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70515476A>G,c.1111A>G,p.I371V |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70515440G>A,c.1075G>A,p.V359I |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70514019G>A,c.1016G>A,p.R339H |
| SULF1(NM_001128205,sulfatase 1,871aa) | g.8:70498703G>A,c.524G>A,p.R175H |