| 基因名 | 突变 |
|---|---|
| PGM2L1(NM_173582,phosphoglucomutase 2-like 1,622aa) | g.11:74053573G>A,c.1565C>T,p.T522I |
| PGM2L1(NM_173582,phosphoglucomutase 2-like 1,622aa) | g.11:74053547C>T,c.1591G>A,p.V531I |
| PGM2L1(NM_173582,phosphoglucomutase 2-like 1,622aa) | g.11:74047743T>A,c.1823A>T,p.N608I |
| PGM2L1(NM_173582,phosphoglucomutase 2-like 1,622aa) | g.11:74047707C>T,c.1859G>A,p.R620H |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64120039G>A,c.1555G>A,p.V519I |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64117470G>A,c.1465G>A,p.A489T |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64114301T>C,c.1312T>C,p.Y438H |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64104434C>A,c.1161C>A,p.S387R |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64104430C>T,c.1157C>T,p.A386V |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64102059G>A,c.1082G>A,p.R361Q |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64097432C>T,c.715C>T,p.R239C |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64095111A>G,c.316A>G,p.I106V |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64095102C>T,c.307C>T,p.R103C |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64089432G>A,c.300+1G>A,p.100Donor |
| PGM1(NM_001172818,phosphoglucomutase 1,580aa) | g.1:64089400A>T,c.269A>T,p.E90V |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153320401G>A,c.8C>T,p.P3L |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153320372T>G,c.37A>C,p.I13L |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153317814C>T,c.184G>A,p.G62R |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153317723T>C,c.275A>G,p.Q92R |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153314228G>A,c.500C>T,p.S167L |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153314153C>A,c.575G>T,p.G192V |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153314127G>A,c.601C>T,p.R201W |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153314126C>T,c.602G>A,p.R201Q |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153313044C>T,c.637G>A,p.V213I |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153309719C>T,c.881G>A,p.G294D |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153309699C>T,c.901G>A,p.D301N |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153303307C>T,c.1058G>A,p.R353Q |
| PGLYRP4(NM_020393,peptidoglycan recognition protein 4,373aa) | g.1:153303305T>C,c.1060A>G,p.T354A |