| 基因名 | 突变 |
|---|---|
| GZF1(NM_022482,GDNF-inducible zinc finger protein 1,711aa) | g.20:23345589A>G,c.569A>G,p.N190S |
| GZF1(NM_022482,GDNF-inducible zinc finger protein 1,711aa) | g.20:23345243A>T,c.223A>T,p.T75S |
| GZF1(NM_022482,GDNF-inducible zinc finger protein 1,711aa) | g.20:23345052A>C,c.32A>C,p.K11T |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21733299C>T,c.280G>A,p.A94T |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21728874C>T,c.421G>A,p.G141S |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21721886G>A,c.736C>T,p.R246X |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21713402T>C,c.1087A>G,p.M363V |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21712054T>G,c.1279A>C,p.I427L |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21711150C>T,c.1406G>A,p.R469H |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21695522T>G,c.1553A>C,p.E518A |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21695439T>C,c.1636A>G,p.T546A |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21693480C>T,c.1673G>A,p.R558H |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21692202G>A,c.1880C>T,p.S627L |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21690035C>G,c.1965G>C,p.Q655H |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21689995C>T,c.2005G>A,p.D669N |
| GYS2(NM_021957,glycogen synthase 2 (liver),703aa) | g.12:21689946A>G,c.2054T>C,p.F685S |
| GYS1(NM_002103,glycogen synthase 1 (muscle),737aa) | g.19:49489229C>T,c.556G>A,p.V186I |
| GYS1(NM_002103,glycogen synthase 1 (muscle),737aa) | g.19:49489154G>A,c.631C>T,p.R211C |
| GYS1(NM_002103,glycogen synthase 1 (muscle),737aa) | g.19:49484835T>C,c.1121A>G,p.N374S |
| GYS1(NM_002103,glycogen synthase 1 (muscle),737aa) | g.19:49481243T>C,c.1246A>G,p.M416V |
| GYS1(NM_002103,glycogen synthase 1 (muscle),737aa) | g.19:49472855C>T,c.1904G>A,p.R635H |
| GYS1(NM_002103,glycogen synthase 1 (muscle),737aa) | g.19:49472636C>T,c.2123G>A,p.R708H |
| GYPE(NM_198682,glycophorin E (MNS blood group),78aa) | g.4:144801662C>T,c.38G>A,p.G13E |
| GYPE(NM_198682,glycophorin E (MNS blood group),78aa) | g.4:144801662C>G,c.38G>C,p.G13A |
| GYPC(NM_001256584,glycophorin C (Gerbich blood group),107aa) | g.2:127453579A>G,c.185A>G,p.Y62C |
| GYPC(NM_001256584,glycophorin C (Gerbich blood group),107aa) | g.2:127453534C>T,c.140C>T,p.A47V |
| GYPC(NM_001256584,glycophorin C (Gerbich blood group),107aa) | g.2:127451514G>A,c.118G>A,p.V40I |
| GYPC(NM_001256584,glycophorin C (Gerbich blood group),107aa) | g.2:127451483G>C,c.87G>C,p.E29D |