| 基因名 | 突变 |
|---|---|
| AGFG1(NM_001135187,ArfGAP with FG repeats 1,584aa) | g.2:228389571G>C,c.634G>C,p.A212P |
| AGFG1(NM_001135187,ArfGAP with FG repeats 1,584aa) | g.2:228388517T>C,c.416T>C,p.V139A |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32151734G>A,c.83C>T,p.A28V |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32151458G>A,c.229C>T,p.R77C |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32151443C>T,c.244G>A,p.G82S |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32150716C>T,c.641G>A,p.R214Q |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32150657G>A,c.700C>T,p.R234W |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32150446C>G,c.769G>C,p.V257L |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32150047C>T,c.989G>A,p.R330H |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32149140C>T,c.1154G>A,p.R385Q |
| AGER(NM_001206929,advanced glycosylation end product-specific receptor,420aa) | g.6:32148963G>A,c.1220C>T,p.S407L |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27292989G>A,c.2519G>A,p.R840H |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27292523G>A,c.2438G>A,p.R813Q |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27292460G>A,c.2375G>A,p.R792Q |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27291556G>A,c.2299G>A,p.G767R |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27290385C>T,c.2113C>T,p.R705W |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27282266G>A,c.2083G>A,p.V695I |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27282189T>G,c.2006T>G,p.F669C |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27282187del,c.2004del,p.668fs |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27282096G>A,c.1913G>A,p.R638Q |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27282066C>T,c.1883C>T,p.P628L |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27281389G>A,c.1793G>A,p.R598H |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27281305C>T,c.1709C>T,p.A570V |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27279591G>A,c.1466G>A,p.R489H |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27276815C>T,c.439C>T,p.R147C |
| AGBL5(NM_021831,ATP/GTP binding protein-like 5,886aa) | g.2:27275904A>C,c.78A>C,p.E26D |
| AGBL4(NM_032785,ATP/GTP binding protein-like 4,503aa) | g.1:50163034C>T,c.233G>A,p.R78H |
| AGBL4(NM_032785,ATP/GTP binding protein-like 4,503aa) | g.1:49511311C>T,c.539G>A,p.S180N |