| 基因名 | 突变 |
|---|---|
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116446654T>C,c.1564A>G,p.S522G |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116446585T>C,c.1633A>G,p.M545V |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116446564T>C,c.1654A>G,p.I552V |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116445398T>G,c.2056A>C,p.K686Q |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116445257A>T,c.2197T>A,p.C733S |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116444143G>C,c.2312C>G,p.A771G |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116429247T>C,c.3512A>G,p.K1171R |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116429001G>A,c.3758C>T,p.T1253I |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116421997G>A,c.4519C>T,p.R1507C |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116421186G>A,c.4691C>T,p.P1564L |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116421180G>A,c.4697C>T,p.S1566L |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116421133A>T,c.4744T>A,p.S1582T |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116413543G>A,c.5365C>T,p.R1789W |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116413495T>C,c.5413A>G,p.I1805V |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116413426C>A,c.5482G>T,p.V1828L |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116413345C>T,c.5563G>A,p.V1855I |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116410005G>A,c.5768C>T,p.T1923I |
| MED13L(NM_015335,mediator complex subunit 13-like,2210aa) | g.12:116399085T>C,c.6619A>G,p.M2207V |
| MED12(NM_005120,mediator complex subunit 12,2177aa) | g.X:70349623G>A,c.3785G>A,p.R1262K |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:151107788T>C,c.5368T>C,p.Y1790H |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:151105707G>A,c.5093G>A,p.R1698Q |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:151102861G>A,c.4865G>A,p.R1622Q |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:151101630C>T,c.4639C>T,p.L1547F |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:151090424G>A,c.3629G>A,p.R1210Q |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:150908681A>G,c.1931A>G,p.D644G |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:150908578G>T,c.1828G>T,p.D610Y |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:150883678G>A,c.1403G>A,p.R468H |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:150881774A>C,c.1202A>C,p.Q401P |