| 基因名 | 突变 |
|---|---|
| CTDSPL(NM_001008392,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like,276aa) | g.3:38017281C>T,c.601C>T,p.R201C |
| CTDSPL(NM_001008392,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like,276aa) | g.3:38017231G>A,c.551G>A,p.R184H |
| CTDSPL(NM_001008392,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like,276aa) | g.3:38012928G>A,c.457G>A,p.E153K |
| CTDSPL2(NM_016396,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2,466aa) | g.15:44788617C>T,c.731C>T,p.A244V |
| CTDSPL2(NM_016396,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2,466aa) | g.15:44776461C>T,c.226C>T,p.R76C |
| CTDSP2(NM_005730,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2,271aa) | g.12:58240210G>T,c.9C>A,p.H3Q |
| CTDSP2(NM_005730,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2,271aa) | g.12:58220844C>T,c.289G>A,p.E97K |
| CTDSP2(NM_005730,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2,271aa) | g.12:58220841C>T,c.292G>A,p.D98N |
| CTDSP2(NM_005730,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2,271aa) | g.12:58220816A>G,c.317T>C,p.I106T |
| CTDSP2(NM_005730,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2,271aa) | g.12:58217707T>C,c.670A>G,p.I224V |
| CTDSP1(NM_021198,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1,261aa) | g.2:219269089C>G,c.727C>G,p.Q243E |
| CTDSP1(NM_021198,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1,261aa) | g.2:219266385G>A,c.166G>A,p.A56T |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77513776A>C,c.2872A>C,p.N958H |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77477971C>T,c.2372C>T,p.A791V |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77477922G>A,c.2323G>A,p.D775N |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77477824C>T,c.2225C>T,p.A742V |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77475187_77475188insGGA,c.1727_1728insGGA,p.576ins1aa |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77475021G>A,c.1561G>A,p.A521T |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77474829G>A,c.1369G>A,p.D457N |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77474761G>A,c.1301G>A,p.R434Q |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77474667G>A,c.1207G>A,p.E403K |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77474626C>T,c.1166C>T,p.A389V |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77474604C>T,c.1144C>T,p.R382W |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77474550G>C,c.1090G>C,p.G364R |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77473127C>T,c.1019C>T,p.T340M |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77464914G>A,c.769G>A,p.A257T |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77455227C>T,c.317C>T,p.A106V |
| CTDP1(NM_004715,CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1,961aa) | g.18:77440128T>G,c.181T>G,p.S61A |