| 基因名 | 突变 |
|---|---|
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16911749C>T,c.9340G>A,p.G3114S |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16911671C>T,c.9418G>A,p.A3140T |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16893406G>C,c.9491C>G,p.S3164W |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16882986G>A,c.9724C>T,p.P3242S |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16882952G>A,c.9758C>T,p.T3253M |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16882375G>A,c.9986C>T,p.S3329L |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16878375C>T,c.10039G>A,p.G3347R |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16878338G>A,c.10076C>T,p.S3359L |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16877110G>A,c.10265C>T,p.T3422I |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16877080G>C,c.10295C>G,p.T3432S |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16870964G>A,c.10604C>T,p.T3535M |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16870912G>T,c.10656C>A,p.N3552K |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16870839C>T,c.10729G>A,p.A3577T |
| CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) | g.10:16870809C>T,c.10759G>A,p.G3587R |
| CTXN3(NM_001048252,cortexin 3,81aa) | g.5:126993282G>A,c.69G>A,p.M23I |
| CTXN3(NM_001048252,cortexin 3,81aa) | g.5:126993263A>T,c.50A>T,p.E17V |
| CTXN2(NM_001145668,cortexin 2,81aa) | g.15:48493739C>T,c.242C>T,p.A81V |
| CTXN2(NM_001145668,cortexin 2,81aa) | g.15:48493738G>A,c.241G>A,p.A81T |
| CTXN2(NM_001145668,cortexin 2,81aa) | g.15:48493597G>A,c.100G>A,p.V34I |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781613G>A,c.1502G>A,p.R501Q |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781603C>G,c.1492C>G,p.Q498E |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781475C>T,c.1439C>T,p.P480L |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781315G>A,c.1400G>A,p.R467H |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781314C>T,c.1399C>T,p.R467C |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781082C>T,c.1289C>T,p.P430L |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781079C>T,c.1286C>T,p.P429L |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781073G>A,c.1280G>A,p.R427Q |
| CTU2(NM_001012759,cytosolic thiouridylase subunit 2 homolog (S. pombe),515aa) | g.16:88781064C>T,c.1271C>T,p.T424I |