| 基因名 | 突变 |
|---|---|
| SLC50A1(NM_018845,solute carrier family 50 (sugar efflux transporter), member 1,221aa) | g.1:155110127C>T,c.373C>T,p.R125W |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139747468A>G,c.2411A>G,p.N804S |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139747064G>A,c.2145G>A,p.W715X |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139745800C>G,c.2036C>G,p.A679G |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139745548T>A,c.1912T>A,p.S638T |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139745121G>C,c.1740G>C,p.W580C |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139744180G>A,c.1693G>A,p.G565R |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139742623C>T,c.1006C>T,p.P336S |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139742519G>A,c.902G>A,p.R301Q |
| SLC4A9(NM_001258428,solute carrier family 4, sodium bicarbonate cotransporter, member 9,983aa) | g.5:139742088C>T,c.850C>T,p.R284W |
| SLC4A8(NM_001039960,solute carrier family 4, sodium bicarbonate cotransporter, member 8,1093aa) | g.12:51868937A>G,c.2119A>G,p.I707V |
| SLC4A8(NM_001039960,solute carrier family 4, sodium bicarbonate cotransporter, member 8,1093aa) | g.12:51863567C>T,c.1519C>T,p.R507C |
| SLC4A8(NM_001039960,solute carrier family 4, sodium bicarbonate cotransporter, member 8,1093aa) | g.12:51844774_51844775insG,c.245_246insG,p.82fs |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27473156T>A,c.756A>T,p.E252D |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27473140G>A,c.772C>T,p.R258C |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27472936C>T,c.976G>A,p.E326K |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27472926C>T,c.986G>A,p.R329H |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27472846C>T,c.1066G>A,p.E356K |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27463161G>A,c.1349C>T,p.A450V |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27462214T>C,c.1462A>G,p.I488V |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27444663A>C,c.2261T>G,p.M754R |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27444657T>C,c.2267A>G,p.N756S |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27436600G>A,c.2683C>T,p.H895Y |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27436597G>A,c.2686C>T,p.P896S |
| SLC4A7(NM_003615,solute carrier family 4, sodium bicarbonate cotransporter, member 7,1214aa) | g.3:27418334G>T,c.3566C>A,p.P1189H |
| SLC4A5(NM_133478,solute carrier family 4 (sodium bicarbonate cotransporter), member 5,1121aa) | g.2:74542089_74542091del,c.60_62del,p.20_21del |
| SLC4A5(NM_133478,solute carrier family 4 (sodium bicarbonate cotransporter), member 5,1121aa) | g.2:74531730C>T,c.157G>A,p.G53S |
| SLC4A5(NM_133478,solute carrier family 4 (sodium bicarbonate cotransporter), member 5,1121aa) | g.2:74531703G>A,c.184C>T,p.R62W |