| 基因名 | 突变 |
|---|---|
| INTS5(NM_030628,integrator complex subunit 5,1019aa) | g.11:62415888C>T,c.1664G>A,p.R555Q |
| INTS5(NM_030628,integrator complex subunit 5,1019aa) | g.11:62415168C>T,c.2384G>A,p.C795Y |
| INTS5(NM_030628,integrator complex subunit 5,1019aa) | g.11:62414505C>G,c.3047G>C,p.R1016P |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77702260G>A,c.140C>T,p.T47I |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77690088G>A,c.425C>T,p.P142L |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77671398T>C,c.697A>G,p.I233V |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77649828G>A,c.1034C>T,p.S345L |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77635932A>C,c.1378T>G,p.S460A |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77602810T>C,c.2365A>G,p.T789A |
| INTS4(NM_033547,integrator complex subunit 4,963aa) | g.11:77602487T>C,c.2470A>G,p.I824V |
| INTS3(NM_023015,integrator complex subunit 3,1042aa) | g.1:153745523A>G,c.3017A>G,p.N1006S |
| INTS3(NM_023015,integrator complex subunit 3,1042aa) | g.1:153740157G>A,c.2098G>A,p.A700T |
| INTS2(NM_020748,integrator complex subunit 2,1204aa) | g.17:60003972G>A,c.58C>T,p.P20S |
| INTS2(NM_020748,integrator complex subunit 2,1204aa) | g.17:60003954T>C,c.76A>G,p.M26V |
| INTS2(NM_020748,integrator complex subunit 2,1204aa) | g.17:59989372G>A,c.733C>T,p.R245C |
| INTS2(NM_020748,integrator complex subunit 2,1204aa) | g.17:59984988C>T,c.986G>A,p.R329K |
| INTS2(NM_020748,integrator complex subunit 2,1204aa) | g.17:59984895A>G,c.1079T>C,p.V360A |
| INTS2(NM_020748,integrator complex subunit 2,1204aa) | g.17:59955426T>G,c.2302A>C,p.N768H |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1542732C>T,c.154G>A,p.G52S |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1539916C>G,c.436G>C,p.V146L |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1538455C>T,c.1171G>A,p.V391I |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1538176C>T,c.1297G>A,p.A433T |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1538175G>A,c.1298C>T,p.A433V |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1535882T>C,c.1621A>G,p.I541V |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1528981_1528982insCAGGCCCTGCTCCCAGCCCCGGGCCCGCCGAGGGGACGTGCGCACTCACTT,c.2316_2317insAAGTGAGTGCGCACGTCCCCTCGGCGGGCCCGGGGCTGGGAGCAGGGCCTG,p.772_773ins17aa |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1527564G>A,c.2348C>T,p.T783M |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1527546G>A,c.2366C>T,p.T789M |
| INTS1(NM_001080453,integrator complex subunit 1,2190aa) | g.7:1526275C>T,c.2962G>A,p.V988M |