| 基因名 | 突变 |
|---|---|
| SLC9B1(NM_139173,solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1,515aa) | g.4:103911041T>A,c.127A>T,p.T43S |
| SLC9B1(NM_139173,solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1,515aa) | g.4:103853344T>C,c.766A>G,p.S256G |
| SLC9B1(NM_139173,solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1,515aa) | g.4:103853323T>C,c.787A>G,p.I263V |
| SLC9B1(NM_139173,solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1,515aa) | g.4:103832610C>T,c.914G>A,p.R305Q |
| SLC9B1(NM_139173,solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1,515aa) | g.4:103822404G>A,c.1418C>T,p.A473V |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:143566989C>T,c.175+1G>A,p.59Donor |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:143550890G>T,c.349C>A,p.P117T |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:143214181G>C,c.1199C>G,p.A400G |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:143100940C>T,c.1486G>A,p.D496N |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:142985717T>C,c.1765A>G,p.I589V |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:142985681G>A,c.1801C>T,p.P601S |
| SLC9A9(NM_173653,solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,645aa) | g.3:142985674G>T,c.1808C>A,p.A603E |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48503392C>T,c.1643C>T,p.A548V |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48481304C>T,c.929C>T,p.T310M |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48472034A>G,c.677A>G,p.N226S |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48467309T>G,c.545T>G,p.F182C |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48456126C>T,c.338C>T,p.A113V |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48429485A>C,c.26A>C,p.E9A |
| SLC9A8(NM_001260491,solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8,597aa) | g.20:48429462G>T,c.3G>T,p.M1I |
| SLC9A7(NM_001257291,solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7,726aa) | g.X:46521569G>A,c.923C>T,p.A308V |
| SLC9A7(NM_001257291,solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7,726aa) | g.X:46510565T>C,c.1330A>G,p.I444V |
| SLC9A7(NM_001257291,solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7,726aa) | g.X:46508195G>A,c.1388C>T,p.P463L |
| SLC9A7(NM_001257291,solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7,726aa) | g.X:46480479C>A,c.1756G>T,p.A586S |
| SLC9A6(NM_001042537,solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6,701aa) | g.X:135115628G>A,c.1703G>A,p.R568Q |
| SLC9A6(NM_001042537,solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6,701aa) | g.X:135067686G>T,c.25G>T,p.A9S |
| SLC9A5(NM_004594,solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5,896aa) | g.16:67304891A>C,c.2469A>C,p.E823D |
| SLC9A5(NM_004594,solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5,896aa) | g.16:67304881G>A,c.2459G>A,p.R820Q |
| SLC9A5(NM_004594,solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5,896aa) | g.16:67298304G>A,c.1892G>A,p.R631Q |