| 基因名 | 突变 |
|---|---|
| GDF15(NM_004864,growth differentiation factor 15,308aa) | g.19:18499449T>G,c.631T>G,p.C211G |
| GDF15(NM_004864,growth differentiation factor 15,308aa) | g.19:18499422C>G,c.604C>G,p.H202D |
| GDF15(NM_004864,growth differentiation factor 15,308aa) | g.19:18499305C>T,c.487C>T,p.P163S |
| GDF15(NM_004864,growth differentiation factor 15,308aa) | g.19:18499305_18499306insCGT,c.487_488insCGT,p.163ins1aa |
| GDF15(NM_004864,growth differentiation factor 15,308aa) | g.19:18497141T>A,c.142T>A,p.S48T |
| GDF15(NM_004864,growth differentiation factor 15,308aa) | g.19:18497024G>C,c.25G>C,p.V9L |
| GDF11(NM_005811,growth differentiation factor 11,407aa) | g.12:56142553G>T,c.629G>T,p.G210V |
| GDF10(NM_004962,growth differentiation factor 10,478aa) | g.10:48438647_48438649del,c.62_64del,p.21_22del |
| GDF10(NM_004962,growth differentiation factor 10,478aa) | g.10:48428888G>C,c.998C>G,p.P333R |
| GDF10(NM_004962,growth differentiation factor 10,478aa) | g.10:48426652C>G,c.1355G>C,p.G452A |
| GDF10(NM_004962,growth differentiation factor 10,478aa) | g.10:48426575G>A,c.1432C>T,p.R478W |
| GDE1(NM_016641,glycerophosphodiester phosphodiesterase 1,331aa) | g.16:19533192C>G,c.95G>C,p.C32S |
| GDE1(NM_016641,glycerophosphodiester phosphodiesterase 1,331aa) | g.16:19533123G>A,c.164C>T,p.A55V |
| GDE1(NM_016641,glycerophosphodiester phosphodiesterase 1,331aa) | g.16:19516398C>T,c.653G>A,p.R218Q |
| GDE1(NM_016641,glycerophosphodiester phosphodiesterase 1,331aa) | g.16:19514806C>T,c.982G>A,p.E328K |
| GDAP2(NM_017686,ganglioside induced differentiation associated protein 2,497aa) | g.1:118454694T>C,c.481A>G,p.M161V |
| GDAP2(NM_017686,ganglioside induced differentiation associated protein 2,497aa) | g.1:118441771G>A,c.704C>T,p.P235L |
| GDAP2(NM_017686,ganglioside induced differentiation associated protein 2,497aa) | g.1:118426240A>G,c.1117T>C,p.Y373H |
| GDAP2(NM_017686,ganglioside induced differentiation associated protein 2,497aa) | g.1:118413220T>C,c.1465A>G,p.T489A |
| GDAP1(NM_018972,ganglioside induced differentiation associated protein 1,358aa) | g.8:75276366G>A,c.841G>A,p.E281K |
| GDAP1L1(NM_001256737,ganglioside induced differentiation associated protein 1-like 1,386aa) | g.20:42907863G>A,c.1084G>A,p.G362R |
| GDAP1L1(NM_001256737,ganglioside induced differentiation associated protein 1-like 1,386aa) | g.20:42907822A>G,c.1043A>G,p.N348S |
| GDAP1L1(NM_001256737,ganglioside induced differentiation associated protein 1-like 1,386aa) | g.20:42891917G>A,c.652G>A,p.E218K |
| GDAP1L1(NM_001256737,ganglioside induced differentiation associated protein 1-like 1,386aa) | g.20:42887023G>A,c.380G>A,p.R127Q |
| GDA(NM_001242506,guanine deaminase,380aa) | g.9:74840668G>A,c.568G>A,p.V190M |
| GDA(NM_001242506,guanine deaminase,380aa) | g.9:74838127G>A,c.476G>A,p.R159H |
| GCSH(NM_004483,glycine cleavage system protein H (aminomethyl carrier),173aa) | g.16:81129822G>A,c.62C>T,p.S21L |
| GCSH(NM_004483,glycine cleavage system protein H (aminomethyl carrier),173aa) | g.16:81129759C>A,c.125G>T,p.R42L |