| 基因名 | 突变 |
|---|---|
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5811183T>C,c.1255A>G,p.I419V |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5811155A>C,c.1283T>G,p.V428G |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5811135T>G,c.1303A>C,p.K435Q |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5801283T>A,c.1960A>T,p.T654S |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5798887T>C,c.2189A>G,p.N730S |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5787572T>C,c.2408A>G,p.Y803C |
| ERMP1(NM_024896,endoplasmic reticulum metallopeptidase 1,904aa) | g.9:5787566C>T,c.2414G>A,p.R805Q |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158182141G>A,c.14C>T,p.P5L |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158182085G>T,c.70C>A,p.Q24K |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158182001C>T,c.154G>A,p.A52T |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158178285A>G,c.353T>C,p.I118T |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158178075T>C,c.563A>G,p.D188G |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158178027A>G,c.611T>C,p.I204T |
| ERMN(NM_020711,ermin, ERM-like protein,284aa) | g.2:158177944T>C,c.694A>G,p.S232G |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170181570A>G,c.1998A>G,p.I666M |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170181548G>T,c.1976G>T,p.S659I |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170176757G>A,c.1727G>A,p.R576H |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170176735C>T,c.1705C>T,p.R569C |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170176724C>T,c.1694C>T,p.T565M |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170176648A>G,c.1618A>G,p.S540G |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170176146G>A,c.1505G>A,p.R502H |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170176121C>G,c.1480C>G,p.R494G |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170173455G>T,c.1274G>T,p.G425V |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170169738A>G,c.1162A>G,p.N388D |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170169699G>A,c.1123G>A,p.G375R |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170169691T>C,c.1115T>C,p.L372S |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170169688A>G,c.1112A>G,p.H371R |
| ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) | g.6:170169676G>A,c.1100G>A,p.R367H |