| 基因名 | 突变 |
|---|---|
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42336620G>A,c.787C>T,p.R263C |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42336584G>C,c.823C>G,p.H275D |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42335485C>T,c.1151G>A,p.R384H |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42335476C>T,c.1160G>A,p.R387Q |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42333075C>T,c.1766G>A,p.R589H |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42330695C>T,c.2102G>A,p.G701D |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42328687C>T,c.2495G>A,p.R832H |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42328621G>A,c.2561C>T,p.P854L |
| SLC4A1(NM_000342,solute carrier family 4 (anion exchanger), member 1,911aa) | g.17:42328598C>T,c.2584G>A,p.V862I |
| SLC4A1AP(NM_018158,solute carrier family 4 (anion exchanger), member 1, adaptor protein,796aa) | g.2:27908097T>G,c.2069T>G,p.M690R |
| SLC4A1AP(NM_018158,solute carrier family 4 (anion exchanger), member 1, adaptor protein,796aa) | g.2:27890190G>T,c.1077G>T,p.Q359H |
| SLC4A1AP(NM_018158,solute carrier family 4 (anion exchanger), member 1, adaptor protein,796aa) | g.2:27887160C>T,c.541C>T,p.R181C |
| SLC4A1AP(NM_018158,solute carrier family 4 (anion exchanger), member 1, adaptor protein,796aa) | g.2:27887034C>A,c.415C>A,p.P139T |
| SLC4A1AP(NM_018158,solute carrier family 4 (anion exchanger), member 1, adaptor protein,796aa) | g.2:27886852C>T,c.233C>T,p.A78V |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3218634G>C,c.77C>G,p.P26R |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3218563T>C,c.148A>G,p.R50G |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3215433G>A,c.325C>T,p.R109C |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3215406T>C,c.352A>G,p.M118V |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3214906C>T,c.475G>A,p.G159S |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3214851T>C,c.530A>G,p.N177S |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3214830C>T,c.551G>A,p.R184H |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3214803T>C,c.578A>G,p.N193S |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3214213C>T,c.805G>A,p.E269K |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3212031G>A,c.1022C>T,p.A341V |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3212028G>A,c.1025C>T,p.P342L |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3211859A>T,c.1107T>A,p.F369L |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3211834C>T,c.1132G>A,p.A378T |
| SLC4A11(NM_001174090,solute carrier family 4, sodium borate transporter, member 11,918aa) | g.20:3210324C>T,c.1717G>A,p.A573T |