| 基因名 | 突变 |
|---|---|
| ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) | g.2:54024884G>A,c.442G>A,p.E148K |
| ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) | g.2:54023133A>G,c.331A>G,p.S111G |
| ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) | g.2:54014412G>A,c.65G>A,p.C22Y |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:665983C>A,c.47G>T,p.R16I |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:642583G>A,c.199C>T,p.R67W |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623943C>T,c.409G>A,p.E137K |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623906C>T,c.446G>A,p.R149Q |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623748C>T,c.604G>A,p.V202M |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623696G>A,c.656C>T,p.T219I |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623604C>A,c.748G>T,p.G250C |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623532C>T,c.820G>A,p.G274S |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:623459C>G,c.893G>C,p.G298A |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:618732C>T,c.1124G>A,p.R375H |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:618675G>A,c.1181C>T,p.T394M |
| ERICH1(NM_207332,glutamate-rich 1,443aa) | g.8:618647T>G,c.1209A>C,p.R403S |
| ERI3(NM_024066,ERI1 exoribonuclease family member 3,337aa) | g.1:44820650C>T,c.49G>A,p.E17K |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20814156G>C,c.265C>G,p.L89V |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20811667G>A,c.518C>T,p.P173L |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20810665C>T,c.652G>A,p.D218N |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20810266T>C,c.856A>G,p.I286V |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20810067T>C,c.1055A>G,p.Y352C |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20809966T>C,c.1156A>G,p.T386A |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20809965G>A,c.1157C>T,p.T386I |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20809915G>C,c.1207C>G,p.P403A |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20809773A>G,c.1349T>C,p.L450S |
| ERI2(NM_001142725,ERI1 exoribonuclease family member 2,691aa) | g.16:20809303C>T,c.1819G>A,p.V607I |
| ERI1(NM_153332,exoribonuclease 1,349aa) | g.8:8887544_8887546del,c.1050del,p.350fs |
| ERI1(NM_153332,exoribonuclease 1,349aa) | g.8:8887543_8887545del,c.1049_1050del,p.350fs |