| 基因名 | 突变 |
|---|---|
| PGD(NM_002631,phosphogluconate dehydrogenase,483aa) | g.1:10477532G>A,c.1075G>A,p.A359T |
| PGD(NM_002631,phosphogluconate dehydrogenase,483aa) | g.1:10473200G>A,c.736G>A,p.D246N |
| PGD(NM_002631,phosphogluconate dehydrogenase,483aa) | g.1:10471586A>G,c.631A>G,p.M211V |
| PGC(NM_002630,progastricsin (pepsinogen C),388aa) | g.6:41708238C>T,c.758G>A,p.G253D |
| PGC(NM_002630,progastricsin (pepsinogen C),388aa) | g.6:41705551T>G,c.931A>C,p.N311H |
| PGC(NM_002630,progastricsin (pepsinogen C),388aa) | g.6:41704735C>A,c.1022G>T,p.G341V |
| PGBD5(NM_001258311,piggyBac transposable element derived 5,524aa) | g.1:230561389C>A,c.286G>T,p.A96S |
| PGBD5(NM_001258311,piggyBac transposable element derived 5,524aa) | g.1:230493032C>T,c.367G>A,p.V123M |
| PGBD5(NM_001258311,piggyBac transposable element derived 5,524aa) | g.1:230492801C>T,c.598G>A,p.A200T |
| PGBD5(NM_001258311,piggyBac transposable element derived 5,524aa) | g.1:230472931G>A,c.998C>T,p.A333V |
| PGBD5(NM_001258311,piggyBac transposable element derived 5,524aa) | g.1:230459215C>T,c.1531G>A,p.V511I |
| PGBD4(NM_152595,piggyBac transposable element derived 4,585aa) | g.15:34396030C>T,c.1298C>T,p.S433L |
| PGBD4(NM_152595,piggyBac transposable element derived 4,585aa) | g.15:34395667G>A,c.935G>A,p.R312H |
| PGBD4(NM_152595,piggyBac transposable element derived 4,585aa) | g.15:34395231A>G,c.499A>G,p.I167V |
| PGBD4(NM_152595,piggyBac transposable element derived 4,585aa) | g.15:34394926C>T,c.194C>T,p.T65I |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50724869G>A,c.292C>T,p.Q98X |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50724500G>A,c.661C>T,p.R221W |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50724277T>C,c.884A>G,p.Y295C |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50724016C>T,c.1145G>A,p.R382K |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50724013A>G,c.1148T>C,p.V383A |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50723825G>C,c.1336C>G,p.Q446E |
| PGBD3(NM_170753,piggyBac transposable element derived 3,593aa) | g.10:50723654T>A,c.1507A>T,p.K503X |
| PGBD2(NM_170725,piggyBac transposable element derived 2,592aa) | g.1:249212160G>C,c.1377G>C,p.K459N |
| PGBD2(NM_170725,piggyBac transposable element derived 2,592aa) | g.1:249212114G>A,c.1331G>A,p.R444Q |
| PGBD2(NM_170725,piggyBac transposable element derived 2,592aa) | g.1:249212113C>T,c.1330C>T,p.R444W |
| PGBD2(NM_170725,piggyBac transposable element derived 2,592aa) | g.1:249211967G>A,c.1184G>A,p.R395K |
| PGBD2(NM_170725,piggyBac transposable element derived 2,592aa) | g.1:249211907G>A,c.1124G>A,p.R375H |
| PGBD2(NM_170725,piggyBac transposable element derived 2,592aa) | g.1:249211729C>G,c.946C>G,p.L316V |