| 基因名 | 突变 |
|---|---|
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784342A>G,c.202A>G,p.K68E |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784250T>C,c.110T>C,p.M37T |
| GDPGP1(NM_001013657,GDP-D-glucose phosphorylase 1,385aa) | g.15:90784207A>G,c.67A>G,p.R23G |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75173888G>A,c.164C>T,p.T55M |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75168818G>A,c.235C>T,p.R79C |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75161025C>T,c.379G>A,p.G127R |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75153469C>T,c.1106G>A,p.R369H |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75152797C>T,c.1219G>A,p.G407S |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75152243C>T,c.1438G>A,p.A480T |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75151002G>A,c.1478C>T,p.P493L |
| GDPD5(NM_030792,glycerophosphodiester phosphodiesterase domain containing 5,605aa) | g.11:75148020G>A,c.1630C>T,p.R544W |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76982175C>G,c.400G>C,p.V134L |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76979586T>G,c.625-2A>C,p.209Acceptor |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76979550T>C,c.659A>G,p.K220R |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76979511A>G,c.698T>C,p.I233T |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76969468G>A,c.827C>T,p.S276L |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76954833G>A,c.1147C>T,p.H383Y |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76954812T>C,c.1168A>G,p.I390V |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76954790T>A,c.1190A>T,p.N397I |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76954788_76954789insA,c.1191_1192insT,p.397fs |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76940264T>C,c.1403A>G,p.Y468C |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76928361T>G,c.1526-2A>C,p.509Acceptor |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76928357T>C,c.1528A>G,p.T510A |
| GDPD4(NM_182833,glycerophosphodiester phosphodiesterase domain containing 4,520aa) | g.11:76928356G>A,c.1529C>T,p.T510I |
| GDPD3(NM_024307,glycerophosphodiester phosphodiesterase domain containing 3,318aa) | g.16:30124682G>A,c.118C>T,p.R40C |
| GDPD3(NM_024307,glycerophosphodiester phosphodiesterase domain containing 3,318aa) | g.16:30124072C>G,c.225G>C,p.Q75H |
| GDPD3(NM_024307,glycerophosphodiester phosphodiesterase domain containing 3,318aa) | g.16:30124065G>C,c.232C>G,p.R78G |
| GDPD3(NM_024307,glycerophosphodiester phosphodiesterase domain containing 3,318aa) | g.16:30124016G>A,c.281C>T,p.S94L |