| 基因名 | 突变 |
|---|---|
| SLC38A3(NM_006841,solute carrier family 38, member 3,504aa) | g.3:50255745G>A,c.979G>A,p.A327T |
| SLC38A3(NM_006841,solute carrier family 38, member 3,504aa) | g.3:50251833A>G,c.102-1A>G,p.34Acceptor |
| SLC38A3(NM_006841,solute carrier family 38, member 3,504aa) | g.3:50251833_50251834insG,c.102insG,p.34fs |
| SLC38A3(NM_006841,solute carrier family 38, member 3,504aa) | g.3:50251832C>A,c.102-2C>A,p.34Acceptor |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46764973G>A,c.104C>T,p.A35V |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46761058T>C,c.380A>G,p.N127S |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46758909C>A,c.627G>T,p.L209F |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46758462G>A,c.670C>T,p.L224F |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46757536C>T,c.1027G>A,p.A343T |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46756366C>T,c.1235G>A,p.R412H |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46754919T>C,c.1496A>G,p.H499R |
| SLC38A2(NM_018976,solute carrier family 38, member 2,506aa) | g.12:46754916T>C,c.1499A>G,p.N500S |
| SLC38A1(NM_001278387,solute carrier family 38, member 1,487aa) | g.12:46623400T>C,c.145A>G,p.S49G |
| SLC38A1(NM_001278387,solute carrier family 38, member 1,487aa) | g.12:46600938G>A,c.563C>T,p.S188L |
| SLC38A1(NM_001278387,solute carrier family 38, member 1,487aa) | g.12:46591791C>T,c.1175G>A,p.R392H |
| SLC38A1(NM_001278387,solute carrier family 38, member 1,487aa) | g.12:46582764C>T,c.1453G>A,p.E485K |
| SLC38A11(NM_001199148,solute carrier family 38, member 11,406aa) | g.2:165802112G>A,c.187C>T,p.P63S |
| SLC38A11(NM_001199148,solute carrier family 38, member 11,406aa) | g.2:165796019A>G,c.310T>C,p.S104P |
| SLC38A11(NM_001199148,solute carrier family 38, member 11,406aa) | g.2:165795982C>T,c.347G>A,p.R116Q |
| SLC38A11(NM_001199148,solute carrier family 38, member 11,406aa) | g.2:165793912T>C,c.397A>G,p.T133A |
| SLC38A11(NM_001199148,solute carrier family 38, member 11,406aa) | g.2:165765194C>A,c.883G>T,p.V295L |
| SLC38A11(NM_001199148,solute carrier family 38, member 11,406aa) | g.2:165755156C>T,c.1012G>A,p.D338N |
| SLC38A10(NM_001037984,solute carrier family 38, member 10,1119aa) | g.17:79257237T>C,c.329A>G,p.N110S |
| SLC38A10(NM_001037984,solute carrier family 38, member 10,1119aa) | g.17:79257226G>A,c.340C>T,p.R114W |
| SLC38A10(NM_001037984,solute carrier family 38, member 10,1119aa) | g.17:79256117G>A,c.373C>T,p.R125C |
| SLC38A10(NM_001037984,solute carrier family 38, member 10,1119aa) | g.17:79256084T>C,c.406A>G,p.I136V |
| SLC38A10(NM_001037984,solute carrier family 38, member 10,1119aa) | g.17:79254530C>T,c.505G>A,p.V169M |
| SLC38A10(NM_001037984,solute carrier family 38, member 10,1119aa) | g.17:79254485G>A,c.550C>T,p.R184W |