
| 基因名 | 突变 |
|---|---|
| SLC9A5(NM_004594,solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5,896aa) | g.16:67293776G>A,c.1769G>A,p.R590H |
| SLC9A5(NM_004594,solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5,896aa) | g.16:67290903_67290904insG,c.1222_1223insG,p.408fs |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103149100G>A,c.2350G>A,p.G784S |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103149055T>C,c.2305T>C,p.S769P |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103142785C>T,c.2018C>T,p.T673I |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103142757G>A,c.1990G>A,p.G664R |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103141583G>A,c.1919G>A,p.R640K |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103141556G>A,c.1892G>A,p.R631H |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103136414G>T,c.1818G>T,p.R606S |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103136368C>T,c.1772C>T,p.S591F |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103125391G>A,c.1487G>A,p.R496H |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103124628G>A,c.1289G>A,p.R430Q |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103095699G>A,c.658G>A,p.V220M |
| SLC9A4(NM_001011552,solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4,798aa) | g.2:103090268T>C,c.50T>C,p.L17P |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2087893G>A,c.922G>A,p.E308K |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086973G>A,c.766G>A,p.V256I |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086847G>A,c.713G>A,p.R238Q |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086790G>A,c.656G>A,p.R219Q |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086757G>A,c.623G>A,p.R208H |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086482G>A,c.572G>A,p.R191H |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086469C>T,c.559C>T,p.R187C |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086466G>A,c.556G>A,p.A186T |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086421C>T,c.511C>T,p.R171W |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086353G>A,c.443G>A,p.R148H |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2086328G>A,c.418G>A,p.V140I |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2079726G>C,c.357G>C,p.W119C |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2079665G>A,c.296G>A,p.R99Q |
| SLC9A3R2(NM_001130012,solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2,337aa) | g.16:2077090G>C,c.84G>C,p.E28D |