| 基因名 | 突变 |
|---|---|
| HKR1(NM_181786,HKR1, GLI-Kruppel zinc finger family member,659aa) | g.19:37838122T>G,c.121T>G,p.Y41D |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71026510C>A,c.2751C>A,p.N917K |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71025483G>A,c.2515G>A,p.A839T |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71025417G>A,c.2449G>A,p.V817M |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71025403G>A,c.2435G>A,p.C812Y |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71021046G>A,c.2368G>A,p.E790K |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71020999G>A,c.2321G>A,p.R774H |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71020921A>C,c.2243A>C,p.Y748S |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71018660T>C,c.2161T>C,p.W721R |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71018657A>G,c.2158A>G,p.I720V |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71010193T>C,c.1716+2T>C,p.572Donor |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71008427G>A,c.1513G>A,p.G505R |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71008190C>T,c.1276C>T,p.R426C |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71007270C>T,c.1186C>T,p.R396C |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71007172C>T,c.1088C>T,p.P363L |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71003000G>C,c.754G>C,p.E252Q |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:71000427T>C,c.611T>C,p.L204P |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70992664C>T,c.371C>T,p.T124I |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70992634C>T,c.341C>T,p.T114M |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70987072C>T,c.173C>T,p.T58M |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70987060A>G,c.161A>G,p.D54G |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70987029C>T,c.130C>T,p.R44W |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70987024G>A,c.125G>A,p.R42Q |
| HKDC1(NM_025130,hexokinase domain containing 1,917aa) | g.10:70987023C>T,c.124C>T,p.R42W |
| HK3(NM_002115,hexokinase 3 (white cell),923aa) | g.5:176318466G>A,c.182C>T,p.A61V |
| HK3(NM_002115,hexokinase 3 (white cell),923aa) | g.5:176318431G>A,c.217C>T,p.R73W |
| HK3(NM_002115,hexokinase 3 (white cell),923aa) | g.5:176318430C>T,c.218G>A,p.R73Q |
| HK3(NM_002115,hexokinase 3 (white cell),923aa) | g.5:176318162C>T,c.290G>A,p.G97E |