| 基因名 | 突变 |
|---|---|
| MED20(NM_004275,mediator complex subunit 20,212aa) | g.6:41884616G>A,c.76C>T,p.R26W |
| MED20(NM_004275,mediator complex subunit 20,212aa) | g.6:41884544C>T,c.148G>A,p.A50T |
| MED20(NM_004275,mediator complex subunit 20,212aa) | g.6:41874904G>A,c.545C>T,p.A182V |
| MED20(NM_004275,mediator complex subunit 20,212aa) | g.6:41874815G>A,c.634C>T,p.R212C |
| MED1(NM_004774,mediator complex subunit 1,1581aa) | g.17:37604109G>A,c.74C>T,p.A25V |
| MED1(NM_004774,mediator complex subunit 1,1581aa) | g.17:37566454C>T,c.2020G>A,p.G674S |
| MED1(NM_004774,mediator complex subunit 1,1581aa) | g.17:37565924A>T,c.2550T>A,p.S850R |
| MED1(NM_004774,mediator complex subunit 1,1581aa) | g.17:37564974G>A,c.3500C>T,p.S1167F |
| MED1(NM_004774,mediator complex subunit 1,1581aa) | g.17:37563969T>C,c.4505A>G,p.K1502R |
| MED19(NM_153450,mediator complex subunit 19,194aa) | g.11:57479507C>A,c.145G>T,p.A49S |
| MED17(NM_004268,mediator complex subunit 17,651aa) | g.11:93528104C>T,c.890C>T,p.A297V |
| MED17(NM_004268,mediator complex subunit 17,651aa) | g.11:93526941G>A,c.685G>A,p.D229N |
| MED17(NM_004268,mediator complex subunit 17,651aa) | g.11:93517886G>C,c.207G>C,p.E69D |
| MED17(NM_004268,mediator complex subunit 17,651aa) | g.11:93517882A>C,c.203A>C,p.Q68P |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:891080C>T,c.52G>A,p.V18I |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:886081C>T,c.568G>A,p.V190M |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:880065C>T,c.1225G>A,p.A409T |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:879947C>T,c.1343G>A,p.S448N |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:875364G>C,c.1651C>G,p.L551V |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:871226G>A,c.2126C>T,p.P709L |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:871146C>T,c.2206G>A,p.D736N |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:871092G>A,c.2260C>T,p.R754W |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:871050C>T,c.2302G>A,p.D768N |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:868897C>T,c.2365G>A,p.A789T |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:868231G>A,c.2504C>T,p.P835L |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:868115C>T,c.2620G>A,p.E874K |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:868108C>G,c.2627G>C,p.R876P |
| MED16(NM_005481,mediator complex subunit 16,877aa) | g.19:868105G>A,c.2630C>T,p.P877L |