| 基因名 | 突变 |
|---|---|
| PGAP1(NM_024989,post-GPI attachment to proteins 1,922aa) | g.2:197777744T>C,c.511A>G,p.I171V |
| PGAP1(NM_024989,post-GPI attachment to proteins 1,922aa) | g.2:197735679G>C,c.1753C>G,p.Q585E |
| PGAP1(NM_024989,post-GPI attachment to proteins 1,922aa) | g.2:197712747A>G,c.1876T>C,p.Y626H |
| PGAP1(NM_024989,post-GPI attachment to proteins 1,922aa) | g.2:197708670G>C,c.2467C>G,p.L823V |
| PGAM5(NM_001170543,phosphoglycerate mutase family member 5,289aa) | g.12:133294371A>G,c.572A>G,p.K191R |
| PGAM5(NM_001170543,phosphoglycerate mutase family member 5,289aa) | g.12:133294358G>A,c.559G>A,p.V187M |
| PGAM5(NM_001170543,phosphoglycerate mutase family member 5,289aa) | g.12:133291604C>T,c.352C>T,p.R118C |
| PGAM5(NM_001170543,phosphoglycerate mutase family member 5,289aa) | g.12:133291596A>G,c.344A>G,p.E115G |
| PGAM5(NM_001170543,phosphoglycerate mutase family member 5,289aa) | g.12:133291473G>A,c.221G>A,p.R74Q |
| PGAM4(NM_001029891,phosphoglycerate mutase family member 4,254aa) | g.X:77225061C>G,c.75G>C,p.W25C |
| PGAM4(NM_001029891,phosphoglycerate mutase family member 4,254aa) | g.X:77225057C>T,c.79G>A,p.D27N |
| PGAM4(NM_001029891,phosphoglycerate mutase family member 4,254aa) | g.X:77224879C>T,c.257G>A,p.R86H |
| PGAM4(NM_001029891,phosphoglycerate mutase family member 4,254aa) | g.X:77224867C>T,c.269G>A,p.R90Q |
| PGAM4(NM_001029891,phosphoglycerate mutase family member 4,254aa) | g.X:77224614C>G,c.522G>C,p.Q174H |
| PGAM4(NM_001029891,phosphoglycerate mutase family member 4,254aa) | g.X:77224487C>T,c.649G>A,p.V217I |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44104881C>T,c.248G>A,p.R83H |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44104839C>T,c.290G>A,p.G97D |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44104807C>T,c.322G>A,p.G108R |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44104788A>C,c.341T>G,p.I114S |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44104584C>T,c.442G>A,p.G148R |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44104542G>A,c.484C>T,p.R162W |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44102418T>G,c.707A>C,p.E236A |
| PGAM2(NM_000290,phosphoglycerate mutase 2 (muscle),253aa) | g.7:44102412G>A,c.713C>T,p.T238M |
| PGAM1(NM_002629,phosphoglycerate mutase 1 (brain),254aa) | g.10:99192229C>T,c.713C>T,p.T238M |
| PGAM1(NM_002629,phosphoglycerate mutase 1 (brain),254aa) | g.10:99190748C>T,c.451C>T,p.P151S |
| PGAM1(NM_002629,phosphoglycerate mutase 1 (brain),254aa) | g.10:99190408A>G,c.412A>G,p.K138E |
| PGAM1(NM_002629,phosphoglycerate mutase 1 (brain),254aa) | g.10:99190189C>T,c.193C>T,p.R65W |
| PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) | g.11:61018733G>A,c.1147G>A,p.G383S |