| 基因名 | 突变 |
|---|---|
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105622294C>T,c.508G>A,p.G170S |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105618527G>A,c.890C>T,p.T297I |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105617042C>T,c.1501G>A,p.E501K |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105615648C>T,c.1612G>A,p.D538N |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105614734C>T,c.2063G>A,p.R688H |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105614701G>A,c.2096C>T,p.A699V |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105614696C>T,c.2101G>A,p.D701N |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105613683G>A,c.2459C>T,p.A820V |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105612959C>T,c.2582G>A,p.R861Q |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105612826C>A,c.2605G>T,p.G869W |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105612798G>A,c.2633C>T,p.P878L |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105612169C>T,c.2851G>A,p.A951T |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105612084C>T,c.2936G>A,p.R979H |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105611295G>A,c.3056C>T,p.S1019L |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609955G>T,c.3105C>A,p.D1035E |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609836G>A,c.3224C>T,p.T1075M |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609825A>G,c.3235T>C,p.S1079P |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609400G>A,c.3349C>T,p.R1117W |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609325C>T,c.3424G>A,p.G1142R |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609279G>A,c.3470C>T,p.P1157L |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609276G>A,c.3473C>T,p.P1158L |
| JAG2(NM_002226,jagged 2,1238aa) | g.14:105609123G>A,c.3626C>T,p.P1209L |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10653603C>A,c.133G>T,p.V45L |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10644614C>T,c.436G>A,p.V146I |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10639284C>T,c.526G>A,p.V176I |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10633188C>T,c.814G>A,p.V272I |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10628673G>A,c.1655C>T,p.P552L |
| JAG1(NM_000214,jagged 1,1218aa) | g.20:10622523T>C,c.2590A>G,p.I864V |