| 基因名 | 突变 |
|---|---|
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20940876C>T,c.2252C>T,p.S751L |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20937429G>T,c.1567G>T,p.G523C |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20937201C>T,c.1484C>T,p.A495V |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20936980C>T,c.1355C>T,p.P452L |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20936980C>G,c.1355C>G,p.P452R |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20936980C>A,c.1355C>A,p.P452H |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20936929C>T,c.1304C>T,p.S435L |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20922898A>C,c.1132A>C,p.M378L |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20921025A>G,c.962A>G,p.Q321R |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20920814_20920816del,c.751_753del,p.251del |
| MED15(NM_001003891,mediator complex subunit 15,788aa) | g.22:20920813_20920814insCAG,c.750_751insCAG,p.250_251ins1aa |
| MED14(NM_004229,mediator complex subunit 14,1454aa) | g.X:40552019G>C,c.1786C>G,p.Q596E |
| MED14(NM_004229,mediator complex subunit 14,1454aa) | g.X:40551980T>C,c.1825A>G,p.R609G |
| MED14(NM_004229,mediator complex subunit 14,1454aa) | g.X:40541136T>C,c.2425A>G,p.I809V |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60140614T>C,c.115A>G,p.T39A |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60140454G>C,c.275C>G,p.A92G |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60140446T>C,c.283A>G,p.I95V |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60088502T>C,c.1376A>G,p.N459S |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60088220G>A,c.1658C>T,p.S553L |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60069978T>C,c.2186A>G,p.E729G |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60060020G>A,c.3344C>T,p.T1115M |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60059803A>T,c.3561T>A,p.D1187E |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60045404T>C,c.4183A>G,p.I1395V |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60042569T>C,c.4642A>G,p.S1548G |
| MED13(NM_005121,mediator complex subunit 13,2174aa) | g.17:60042388G>A,c.4823C>T,p.P1608L |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116534535C>T,c.418G>A,p.V140I |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116457747G>A,c.656C>T,p.T219M |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116452965T>C,c.1124A>G,p.H375R |