| 基因名 | 突变 |
|---|---|
| GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) | g.22:17450929C>T,c.841G>A,p.A281T |
| GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) | g.22:17449238T>C,c.973A>G,p.N325D |
| GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) | g.22:17447138C>G,c.1140G>C,p.Q380H |
| GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) | g.22:17447036C>G,c.1242G>C,p.E414D |
| GAB4(NM_001037814,GRB2-associated binding protein family, member 4,574aa) | g.22:17444715G>A,c.1481C>T,p.P494L |
| GAB3(NM_001081573,GRB2-associated binding protein 3,587aa) | g.X:153940872T>C,c.701A>G,p.H234R |
| GAB3(NM_001081573,GRB2-associated binding protein 3,587aa) | g.X:153940861G>A,c.712C>T,p.P238S |
| GAB3(NM_001081573,GRB2-associated binding protein 3,587aa) | g.X:153908497C>G,c.1559G>C,p.S520T |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77961419C>A,c.404G>T,p.G135V |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77961408G>A,c.415C>T,p.R139C |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77961357G>A,c.466C>T,p.R156C |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77938000C>G,c.718G>C,p.G240R |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77937972T>C,c.746A>G,p.Y249C |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77937928T>C,c.790A>G,p.S264G |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77937828G>A,c.890C>T,p.T297M |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77937768G>A,c.950C>T,p.P317L |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77937687G>A,c.1031C>T,p.P344L |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77934709A>G,c.1316T>C,p.I439T |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77934700C>T,c.1325G>A,p.R442Q |
| GAB2(NM_080491,GRB2-associated binding protein 2,676aa) | g.11:77931418C>T,c.1834G>A,p.V612I |
| GAB1(NM_207123,GRB2-associated binding protein 1,724aa) | g.4:144359688C>T,c.1130C>T,p.T377I |
| GAB1(NM_207123,GRB2-associated binding protein 1,724aa) | g.4:144359490C>T,c.932C>T,p.P311L |
| GAB1(NM_207123,GRB2-associated binding protein 1,724aa) | g.4:144359285G>A,c.727G>A,p.D243N |
| GAB1(NM_207123,GRB2-associated binding protein 1,724aa) | g.4:144354659C>G,c.383C>G,p.P128R |
| GAB1(NM_207123,GRB2-associated binding protein 1,724aa) | g.4:144336882C>T,c.325C>T,p.R109C |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78092585C>T,c.2780C>T,p.T927I |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78092473G>C,c.2668G>C,p.V890L |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78091523G>A,c.2456G>A,p.R819Q |