| 基因名 | 突变 |
|---|---|
| PGPEP1L(NM_001167902,pyroglutamyl-peptidase I-like,142aa) | g.15:99511873G>A,c.263C>T,p.A88V |
| PGPEP1L(NM_001167902,pyroglutamyl-peptidase I-like,142aa) | g.15:99511841C>T,c.295G>A,p.G99R |
| PGPEP1L(NM_001167902,pyroglutamyl-peptidase I-like,142aa) | g.15:99511804_99511805insC,c.331_332insG,p.111fs |
| PGPEP1L(NM_001167902,pyroglutamyl-peptidase I-like,142aa) | g.15:99511793C>G,c.343G>C,p.E115Q |
| PGPEP1L(NM_001167902,pyroglutamyl-peptidase I-like,142aa) | g.15:99511745C>G,c.391G>C,p.E131Q |
| PGPEP1L(NM_001167902,pyroglutamyl-peptidase I-like,142aa) | g.15:99511732A>G,c.404T>C,p.M135T |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71114248G>A,c.1585G>A,p.D529N |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71114202T>G,c.1539T>G,p.S513R |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71098912C>T,c.1427C>T,p.T476M |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71098864T>C,c.1379T>C,p.I460T |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71098810C>T,c.1325C>T,p.T442M |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71080017A>G,c.1052A>G,p.K351R |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71006509G>A,c.757G>A,p.A253T |
| PGM5(NM_021965,phosphoglucomutase 5,567aa) | g.9:71002486A>G,c.679A>G,p.I227V |
| PGM3(NM_001199917,phosphoglucomutase 3,570aa) | g.6:83900923A>T,c.65T>A,p.V22D |
| PGM3(NM_001199917,phosphoglucomutase 3,570aa) | g.6:83900682T>C,c.134A>G,p.N45S |
| PGM3(NM_001199917,phosphoglucomutase 3,570aa) | g.6:83898373G>T,c.433C>A,p.L145M |
| PGM3(NM_001199917,phosphoglucomutase 3,570aa) | g.6:83888401T>G,c.1104A>C,p.E368D |
| PGM3(NM_001199917,phosphoglucomutase 3,570aa) | g.6:83880167C>T,c.1480G>A,p.D494N |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37863153G>A,c.1759G>A,p.E587K |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37857299G>A,c.1673G>A,p.R558H |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37857286G>A,c.1660G>A,p.V554M |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37851856A>C,c.1464A>C,p.E488D |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37848913A>G,c.1279A>G,p.I427V |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37848578A>G,c.1034A>G,p.N345S |
| PGM2(NM_018290,phosphoglucomutase 2,612aa) | g.4:37831719G>A,c.215G>A,p.R72H |
| PGM2L1(NM_173582,phosphoglucomutase 2-like 1,622aa) | g.11:74109185C>T,c.22G>A,p.D8N |
| PGM2L1(NM_173582,phosphoglucomutase 2-like 1,622aa) | g.11:74109166A>G,c.41T>C,p.L14P |