| 基因名 | 突变 |
|---|---|
| DIEXF(NM_014388,digestive organ expansion factor homolog (zebrafish),756aa) | g.1:210004199C>G,c.199C>G,p.Q67E |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61542808G>A,c.157C>T,p.P53S |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61542388G>A,c.577C>T,p.R193W |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61542195G>A,c.770C>T,p.P257L |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61537401C>T,c.1426G>A,p.E476K |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61537379A>G,c.1448T>C,p.V483A |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61528306A>G,c.1631T>C,p.M544T |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61528271C>T,c.1666G>A,p.A556T |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61528117C>A,c.1820G>T,p.G607V |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61528090G>A,c.1847C>T,p.P616L |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61527988G>A,c.1949C>T,p.S650L |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61527971del,c.1966del,p.656fs |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61527739T>C,c.2060A>G,p.N687S |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61526238T>C,c.2360A>G,p.N787S |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61526220G>C,c.2378C>G,p.A793G |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61526176C>T,c.2422G>A,p.V808M |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61524300C>T,c.3116G>A,p.R1039H |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61522352C>G,c.3501G>C,p.Q1167H |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61513649G>T,c.3659C>A,p.P1220Q |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61513427_61513438del,c.3870_3881del,p.1290_1294del |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61513388G>A,c.3920C>T,p.A1307V |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61513314C>T,c.3994G>A,p.A1332T |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61513293T>A,c.4015A>T,p.T1339S |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61512983T>A,c.4325A>T,p.D1442V |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61512815T>G,c.4493A>C,p.E1498A |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61512687A>G,c.4621T>C,p.S1541P |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61512606T>C,c.4702A>G,p.T1568A |
| DIDO1(NM_033081,death inducer-obliterator 1,2240aa) | g.20:61512420C>T,c.4888G>A,p.E1630K |