| 基因名 | 突变 |
|---|---|
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1525071C>G,c.3011G>C,p.R1004P |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1523722C>T,c.3346G>A,p.V1116M |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1520512G>C,c.3908C>G,p.T1303S |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1520077T>C,c.3950A>G,p.D1317G |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1520020C>T,c.4007G>A,p.R1336Q |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1518142A>G,c.4490T>C,p.V1497A |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1517296G>A,c.4828C>T,p.R1610W |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1516523C>T,c.4970G>A,p.R1657H |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1515637C>T,c.5449G>A,p.V1817M |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1515634G>A,c.5452C>T,p.P1818S |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1513935G>A,c.5698C>T,p.R1900W |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1512808G>C,c.5970C>G,p.F1990L |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1512720C>T,c.6058G>A,p.E2020K |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1511954T>C,c.6139A>G,p.M2047V |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1511239G>A,c.6223C>T,p.R2075W |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1511217C>T,c.6245G>A,p.S2082N |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1511216G>T,c.6246C>A,p.S2082R |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1511214A>C,c.6248T>G,p.F2083C |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1511213G>C,c.6249C>G,p.F2083L |
| INTS12(NM_020395,integrator complex subunit 12,462aa) | g.4:106604435C>T,c.844G>A,p.V282I |
| INTS12(NM_020395,integrator complex subunit 12,462aa) | g.4:106604435C>A,c.844G>T,p.V282F |
| INTS12(NM_020395,integrator complex subunit 12,462aa) | g.4:106604350A>G,c.929T>C,p.L310S |
| INTS12(NM_020395,integrator complex subunit 12,462aa) | g.4:106604227T>C,c.1052A>G,p.N351S |
| INTS12(NM_020395,integrator complex subunit 12,462aa) | g.4:106604164C>A,c.1115G>T,p.G372V |
| INTS10(NM_018142,integrator complex subunit 10,710aa) | g.8:19700397A>G,c.1678A>G,p.I560V |
| INTS10(NM_018142,integrator complex subunit 10,710aa) | g.8:19681436G>T,c.717G>T,p.K239N |
| INSRR(NM_014215,insulin receptor-related receptor,1297aa) | g.1:156824054G>A,c.127C>T,p.R43C |
| INSRR(NM_014215,insulin receptor-related receptor,1297aa) | g.1:156823922G>A,c.259C>T,p.R87C |