| 基因名 | 突变 |
|---|---|
| SLC33A1(NM_004733,solute carrier family 33 (acetyl-CoA transporter), member 1,549aa) | g.3:155560337C>T,c.847G>A,p.E283K |
| SLC33A1(NM_004733,solute carrier family 33 (acetyl-CoA transporter), member 1,549aa) | g.3:155547573C>G,c.1386G>C,p.W462C |
| SLC33A1(NM_004733,solute carrier family 33 (acetyl-CoA transporter), member 1,549aa) | g.3:155547508T>G,c.1451A>C,p.N484T |
| SLC33A1(NM_004733,solute carrier family 33 (acetyl-CoA transporter), member 1,549aa) | g.3:155546124C>T,c.1525G>A,p.G509S |
| SLC33A1(NM_004733,solute carrier family 33 (acetyl-CoA transporter), member 1,549aa) | g.3:155546070A>C,c.1579T>G,p.F527V |
| SLC32A1(NM_080552,solute carrier family 32 (GABA vesicular transporter), member 1,525aa) | g.20:37357266C>A,c.1562C>A,p.T521N |
| SLC31A2(NM_001860,solute carrier family 31 (copper transporter), member 2,143aa) | g.9:115923801C>T,c.86C>T,p.S29L |
| SLC31A1(NM_001859,solute carrier family 31 (copper transporter), member 1,190aa) | g.9:116021136C>G,c.365C>G,p.T122S |
| SLC31A1(NM_001859,solute carrier family 31 (copper transporter), member 1,190aa) | g.9:116018501C>G,c.73C>G,p.P25A |
| SLC30A9(NM_006345,solute carrier family 30 (zinc transporter), member 9,568aa) | g.4:42051452A>G,c.796A>G,p.M266V |
| SLC30A9(NM_006345,solute carrier family 30 (zinc transporter), member 9,568aa) | g.4:42025372G>A,c.581G>A,p.R194H |
| SLC30A9(NM_006345,solute carrier family 30 (zinc transporter), member 9,568aa) | g.4:42020142A>G,c.289A>G,p.T97A |
| SLC30A9(NM_006345,solute carrier family 30 (zinc transporter), member 9,568aa) | g.4:42003677C>T,c.154C>T,p.P52S |
| SLC30A9(NM_006345,solute carrier family 30 (zinc transporter), member 9,568aa) | g.4:42003671A>G,c.148A>G,p.M50V |
| SLC30A8(NM_001172813,solute carrier family 30 (zinc transporter), member 8,320aa) | g.8:118184784G>A,c.827G>A,p.R276Q |
| SLC30A8(NM_001172813,solute carrier family 30 (zinc transporter), member 8,320aa) | g.8:118184783C>T,c.826C>T,p.R276W |
| SLC30A8(NM_001172813,solute carrier family 30 (zinc transporter), member 8,320aa) | g.8:118174044G>A,c.493G>A,p.V165I |
| SLC30A8(NM_001172813,solute carrier family 30 (zinc transporter), member 8,320aa) | g.8:118169980G>A,c.322G>A,p.V108M |
| SLC30A7(NM_133496,solute carrier family 30 (zinc transporter), member 7,376aa) | g.1:101431361C>G,c.970C>G,p.Q324E |
| SLC30A6(NM_001193513,solute carrier family 30 (zinc transporter), member 6,501aa) | g.2:32445640A>G,c.1364A>G,p.H455R |
| SLC30A6(NM_001193513,solute carrier family 30 (zinc transporter), member 6,501aa) | g.2:32431994A>C,c.928A>C,p.I310L |
| SLC30A5(NM_022902,solute carrier family 30 (zinc transporter), member 5,765aa) | g.5:68414334G>A,c.1448G>A,p.R483Q |
| SLC30A5(NM_022902,solute carrier family 30 (zinc transporter), member 5,765aa) | g.5:68411954C>T,c.985C>T,p.R329W |
| SLC30A5(NM_022902,solute carrier family 30 (zinc transporter), member 5,765aa) | g.5:68411831G>A,c.862G>A,p.V288M |
| SLC30A5(NM_022902,solute carrier family 30 (zinc transporter), member 5,765aa) | g.5:68411139G>A,c.688G>A,p.D230N |
| SLC30A5(NM_022902,solute carrier family 30 (zinc transporter), member 5,765aa) | g.5:68400476C>T,c.292C>T,p.H98Y |
| SLC30A4(NM_013309,solute carrier family 30 (zinc transporter), member 4,429aa) | g.15:45814363C>T,c.190G>A,p.G64R |
| SLC30A4(NM_013309,solute carrier family 30 (zinc transporter), member 4,429aa) | g.15:45781208C>T,c.725G>A,p.R242H |