| 基因名 | 突变 |
|---|---|
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992939C>A,c.923G>T,p.G308V |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992735C>T,c.1127G>A,p.R376H |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992397T>C,c.1465A>G,p.S489G |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992154T>C,c.1708A>G,p.T570A |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992060C>T,c.1802G>A,p.R601Q |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992016T>C,c.1846A>G,p.T616A |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21992015G>A,c.1847C>T,p.T616I |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21991748G>A,c.2114C>T,p.T705I |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21991703T>C,c.2159A>G,p.N720S |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21991626C>G,c.2236G>C,p.G746R |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21991589G>C,c.2273C>G,p.P758R |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21991144C>G,c.2718G>C,p.E906D |
| SALL2(NM_005407,sal-like 2 (Drosophila),1007aa) | g.14:21990897A>G,c.2965T>C,p.S989P |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175754C>G,c.88G>C,p.V30L |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175661T>C,c.181A>G,p.S61G |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175658T>C,c.184A>G,p.S62G |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175655C>T,c.187G>A,p.G63S |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175655_51175656insGCT,c.186_187insAGC,p.62_63ins1aa |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175457C>T,c.385G>A,p.V129I |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51175324G>A,c.518C>T,p.P173L |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51174305C>G,c.1537G>C,p.E513Q |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51174255C>G,c.1587G>C,p.E529D |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51174229G>A,c.1613C>T,p.P538L |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51173735C>T,c.2107G>A,p.D703N |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51172894G>A,c.2948C>T,p.S983L |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51172864T>C,c.2978A>G,p.N993S |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51171175C>T,c.3532G>A,p.V1178I |
| SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) | g.16:51171126T>C,c.3581A>G,p.N1194S |