| 基因名 | 突变 |
|---|---|
| SLC36A3(NM_001145017,solute carrier family 36, member 3,511aa) | g.5:150657166C>T,c.1324G>A,p.V442M |
| SLC36A3(NM_001145017,solute carrier family 36, member 3,511aa) | g.5:150657148C>G,c.1342G>C,p.A448P |
| SLC36A3(NM_001145017,solute carrier family 36, member 3,511aa) | g.5:150657130G>T,c.1360C>A,p.L454I |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150723761C>T,c.232G>A,p.A78T |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150723749C>T,c.244G>A,p.A82T |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150723155C>A,c.260G>T,p.G87V |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150723092C>T,c.323G>A,p.C108Y |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150722512G>A,c.377C>T,p.T126M |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150715021T>C,c.613A>G,p.M205V |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150714978C>T,c.656G>A,p.R219Q |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150704980G>A,c.877C>T,p.R293C |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150704946G>A,c.911C>T,p.S304F |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150701709C>T,c.1078G>A,p.V360I |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150701661G>A,c.1126C>T,p.R376C |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150701625C>T,c.1162G>A,p.V388I |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150696625C>T,c.1205G>A,p.R402H |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150696496G>A,c.1334C>T,p.A445V |
| SLC36A2(NM_181776,solute carrier family 36 (proton/amino acid symporter), member 2,483aa) | g.5:150696419C>T,c.1411G>A,p.D471N |
| SLC36A1(NM_078483,solute carrier family 36 (proton/amino acid symporter), member 1,476aa) | g.5:150867793A>G,c.1409A>G,p.N470S |
| SLC36A1(NM_078483,solute carrier family 36 (proton/amino acid symporter), member 1,476aa) | g.5:150867742A>G,c.1358A>G,p.Y453C |
| SLC36A1(NM_078483,solute carrier family 36 (proton/amino acid symporter), member 1,476aa) | g.5:150859026C>T,c.1135C>T,p.R379C |
| SLC36A1(NM_078483,solute carrier family 36 (proton/amino acid symporter), member 1,476aa) | g.5:150847269T>C,c.506T>C,p.V169A |
| SLC36A1(NM_078483,solute carrier family 36 (proton/amino acid symporter), member 1,476aa) | g.5:150843202G>T,c.232G>T,p.V78L |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386280G>A,c.977G>A,p.W326X |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386279T>C,c.976T>C,p.W326R |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386237G>A,c.934G>A,p.G312R |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386234G>A,c.931G>A,p.V311M |
| SLC35G6(NM_001102614,solute carrier family 35, member G6,338aa) | g.17:7386217T>C,c.914T>C,p.V305A |