| 基因名 | 突变 |
|---|---|
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65918286T>G,c.1868T>G,p.M623R |
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65918177_65918179del,c.1759_1761del,p.587del |
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65917865G>A,c.1447G>A,p.V483I |
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65917355T>G,c.937T>G,p.L313V |
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65917349G>C,c.931G>C,p.V311L |
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65917019G>A,c.601G>A,p.V201M |
| SLC24A1(NM_004727,solute carrier family 24 (sodium/potassium/calcium exchanger), member 1,1099aa) | g.15:65916527A>T,c.109A>T,p.T37S |
| SLC23A3(NM_001144890,solute carrier family 23, member 3,618aa) | g.2:220034251C>G,c.312G>C,p.M104I |
| SLC23A3(NM_001144890,solute carrier family 23, member 3,618aa) | g.2:220032934C>G,c.805G>C,p.V269L |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138718915G>A,c.28C>T,p.R10W |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138718266G>A,c.65C>T,p.P22L |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138715520T>C,c.784A>G,p.M262V |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138715502C>T,c.802G>A,p.V268M |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138714971A>G,c.1010T>C,p.I337T |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138713959A>C,c.1273T>G,p.S425A |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138713708G>A,c.1421C>T,p.T474M |
| SLC23A1(NM_152685,solute carrier family 23 (ascorbic acid transporter), member 1,602aa) | g.5:138707916G>T,c.1588C>A,p.Q530K |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63177324C>T,c.1652C>T,p.T551M |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63177290G>C,c.1618G>C,p.E540Q |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63176216T>C,c.1466T>C,p.I489T |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63176192G>A,c.1442G>A,p.G481E |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63176187A>G,c.1437A>G,p.I479M |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63175599G>A,c.1304G>A,p.R435H |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63175593C>T,c.1298C>T,p.T433M |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63149671del,c.995del,p.332fs |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63149641C>T,c.965C>T,p.S322F |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63143153C>A,c.867C>A,p.N289K |
| SLC22A9(NM_080866,solute carrier family 22 (organic anion transporter), member 9,553aa) | g.11:63141471G>A,c.767G>A,p.R256Q |