| 基因名 | 突变 |
|---|---|
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62651966G>C,c.1034G>C,p.G345A |
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62649463G>A,c.829G>A,p.D277N |
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62649427A>G,c.793A>G,p.I265V |
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62649421G>T,c.787G>T,p.G263C |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44547609G>A,c.1889G>A,p.G630D |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44547574G>A,c.1854G>A,p.M618I |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44547566G>A,c.1846G>A,p.A616T |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44547546A>G,c.1826A>G,p.N609S |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44540983C>T,c.1510C>T,p.R504C |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44539866G>A,c.1474G>A,p.A492T |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44539792T>C,c.1400T>C,p.M467T |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44539759G>A,c.1367G>A,p.R456H |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44539758C>T,c.1366C>T,p.R456C |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44531415G>A,c.1270G>A,p.V424M |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44528268del,c.1136+2del,p.379Donordel |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44528256G>A,c.1126G>A,p.G376S |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44528165G>A,c.1035G>A,p.E345E |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44528161C>T,c.1031C>T,p.S344L |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44527119C>T,c.901C>T,p.R301W |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44513202T>C,c.797T>C,p.F266S |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44513193G>C,c.788G>C,p.S263T |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44508601G>A,c.686G>A,p.R229Q |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44507990C>T,c.566C>T,p.T189M |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44502979C>T,c.305C>T,p.A102V |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44502916G>A,c.242G>A,p.R81H |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44502915C>T,c.241C>T,p.R81C |
| SLC3A1(NM_000341,solute carrier family 3 (amino acid transporter heavy chain), member 1,685aa) | g.2:44502682A>G,c.8A>G,p.E3G |
| SLC39A9(NM_018375,solute carrier family 39, member 9,307aa) | g.14:69925212G>A,c.826G>A,p.D276N |