| 基因名 | 突变 |
|---|---|
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87235210G>A,c.808C>T,p.L270F |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87229946G>A,c.932C>T,p.S311L |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87229890G>A,c.988C>T,p.L330F |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87229739C>T,c.1139G>A,p.R380K |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87229736C>T,c.1142G>A,p.R381Q |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87229706G>T,c.1172C>A,p.P391H |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87226700A>G,c.1355T>C,p.M452T |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87226647C>T,c.1408G>A,p.E470K |
| SLC7A13(NM_138817,solute carrier family 7 (anionic amino acid transporter), member 13,470aa) | g.8:87226635_87226642del,c.1413del,p.471fs |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139162973G>A,c.251C>T,p.T84M |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139153538_139153539insA,c.405-2insT,p.135Acceptorins |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139153535G>A,c.406C>T,p.P136S |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139144434G>A,c.565C>T,p.R189W |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139144395T>C,c.604A>G,p.I202V |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139140483C>T,c.683G>A,p.R228K |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139104414T>C,c.961A>G,p.I321V |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139101829C>T,c.1232G>A,p.R411Q |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139100496G>A,c.1319C>T,p.A440V |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139100372C>T,c.1442+1G>A,p.481Donor |
| SLC7A11(NM_014331,solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11,501aa) | g.4:139093119A>T,c.1497T>A,p.D499E |
| SLC7A10(NM_019849,solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10,523aa) | g.19:33706868C>T,c.163G>A,p.G55S |
| SLC7A10(NM_019849,solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10,523aa) | g.19:33706859T>C,c.172A>G,p.I58V |
| SLC7A10(NM_019849,solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10,523aa) | g.19:33703817C>T,c.448G>A,p.V150M |
| SLC7A10(NM_019849,solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10,523aa) | g.19:33702397C>T,c.835G>A,p.V279M |
| SLC7A10(NM_019849,solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10,523aa) | g.19:33699862C>T,c.1507G>A,p.E503K |
| SLC6A9(NM_201649,solute carrier family 6 (neurotransmitter transporter, glycine), member 9,706aa) | g.1:44482799C>T,c.7G>A,p.G3S |
| SLC6A9(NM_201649,solute carrier family 6 (neurotransmitter transporter, glycine), member 9,706aa) | g.1:44482772G>A,c.34C>T,p.R12C |
| SLC6A9(NM_201649,solute carrier family 6 (neurotransmitter transporter, glycine), member 9,706aa) | g.1:44477251G>C,c.231C>G,p.H77Q |