| 基因名 | 突变 |
|---|---|
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:878171C>T,c.1297C>T,p.R433W |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:877831T>C,c.1027T>C,p.W343R |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:877589C>T,c.943C>T,p.P315S |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:877523C>G,c.877C>G,p.P293A |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:874816_874817insT,c.682_683insT,p.228fs |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:874809G>C,c.675G>C,p.W225C |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:874762C>T,c.628C>T,p.R210C |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:874714C>T,c.580C>T,p.R194W |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:874497G>C,c.508G>C,p.E170Q |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:874446C>T,c.457C>T,p.R153C |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:865694C>T,c.232C>T,p.H78Y |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:865628G>A,c.166G>A,p.G56S |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:865584G>A,c.122G>A,p.R41Q |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:865580G>A,c.118G>A,p.A40T |
| SAMD11(NM_152486,sterile alpha motif domain containing 11,681aa) | g.1:865545G>A,c.83G>A,p.R28Q |
| SAMD10(NM_080621,sterile alpha motif domain containing 10,202aa) | g.20:62608720T>G,c.131A>C,p.H44P |
| SAMD10(NM_080621,sterile alpha motif domain containing 10,202aa) | g.20:62608646G>A,c.205C>T,p.R69C |
| SAMD10(NM_080621,sterile alpha motif domain containing 10,202aa) | g.20:62608491C>T,c.278G>A,p.R93Q |
| SAMD10(NM_080621,sterile alpha motif domain containing 10,202aa) | g.20:62607179G>A,c.452C>T,p.A151V |
| SAMD10(NM_080621,sterile alpha motif domain containing 10,202aa) | g.20:62607130C>A,c.501G>T,p.Q167H |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50408810G>A,c.212C>T,p.T71M |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50408673C>T,c.349G>A,p.G117R |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50407502A>C,c.1520T>G,p.L507R |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50406807C>A,c.2215G>T,p.A739S |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50406732A>G,c.2290T>C,p.S764P |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50406630T>G,c.2392A>C,p.I798L |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50405659G>A,c.2483C>T,p.T828M |
| SALL4(NM_020436,sal-like 4 (Drosophila),1053aa) | g.20:50400989C>G,c.2977G>C,p.G993R |