| 基因名 | 突变 |
|---|---|
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68344771G>A,c.59C>T,p.A20V |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68344696C>T,c.134G>A,p.G45D |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68344363A>C,c.346T>G,p.S116A |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68338027C>T,c.580G>A,p.D194N |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68337948T>C,c.659A>G,p.Y220C |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68337937A>G,c.670T>C,p.W224R |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68336400T>C,c.683A>G,p.N228S |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68336312C>G,c.771G>C,p.E257D |
| SLC7A6OS(NM_032178,solute carrier family 7, member 6 opposite strand,309aa) | g.16:68335290C>A,c.818G>T,p.S273I |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68331179T>C,c.1496T>C,p.L499P |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68330397A>G,c.1250A>G,p.K417R |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68330381C>T,c.1234C>T,p.R412C |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68325203T>A,c.886T>A,p.S296T |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68321648del,c.524-1del,p.175Acceptordel |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68309144C>T,c.515C>T,p.A172V |
| SLC7A6(NM_001076785,solute carrier family 7 (amino acid transporter light chain, y+L system), member 6,515aa) | g.16:68308707A>T,c.78A>T,p.E26D |
| SLC7A5(NM_003486,solute carrier family 7 (amino acid transporter light chain, L system), member 5,507aa) | g.16:87902907C>T,c.122G>A,p.G41D |
| SLC7A5(NM_003486,solute carrier family 7 (amino acid transporter light chain, L system), member 5,507aa) | g.16:87874758T>A,c.668A>T,p.D223V |
| SLC7A5(NM_003486,solute carrier family 7 (amino acid transporter light chain, L system), member 5,507aa) | g.16:87870220C>T,c.1174G>A,p.D392N |
| SLC7A5(NM_003486,solute carrier family 7 (amino acid transporter light chain, L system), member 5,507aa) | g.16:87868122C>A,c.1366G>T,p.V456L |
| SLC7A5(NM_003486,solute carrier family 7 (amino acid transporter light chain, L system), member 5,507aa) | g.16:87866598T>A,c.1502A>T,p.Q501L |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21386095G>A,c.7C>T,p.R3W |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21386019G>A,c.83C>T,p.T28I |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21386010G>A,c.92C>T,p.T31M |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21385954T>C,c.148A>G,p.M50V |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21385918C>T,c.184G>A,p.V62M |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21385876C>T,c.226G>A,p.G76S |
| SLC7A4(NM_004173,solute carrier family 7, member 4,635aa) | g.22:21385834C>T,c.268G>A,p.A90T |