基因名 |
突变 |
AGAP11(NM_133447,ankyrin repeat and GTPase domain Arf GTPase activating protein 11,550aa) |
g.10:88768253A>G,c.244A>G,p.I82V |
AGA(NM_000027,aspartylglucosaminidase,346aa) |
g.4:178363496C>A,c.34G>T,p.V12L |
AGA(NM_000027,aspartylglucosaminidase,346aa) |
g.4:178360811G>T,c.313C>A,p.L105I |
AGA(NM_000027,aspartylglucosaminidase,346aa) |
g.4:178359960G>C,c.446C>G,p.T149S |
AGA(NM_000027,aspartylglucosaminidase,346aa) |
g.4:178354406A>G,c.902T>C,p.F301S |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64819059A>G,c.2701A>G,p.I901V |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64808387G>A,c.2519G>A,p.S840N |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64780532A>G,c.1924A>G,p.T642A |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64780515A>G,c.1907A>G,p.H636R |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64780466A>G,c.1858A>G,p.T620A |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64780404G>A,c.1796G>A,p.R599Q |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64780257A>G,c.1649A>G,p.N550S |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64780238A>G,c.1630A>G,p.N544D |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64779830G>A,c.1222G>A,p.D408N |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64779829T>G,c.1221T>G,p.D407E |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64779509G>A,c.901G>A,p.E301K |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64779471A>G,c.863A>G,p.K288R |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64779452G>A,c.844G>A,p.G282S |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64779195G>A,c.587G>A,p.G196E |
AFTPH(NM_203437,aftiphilin,936aa) |
g.2:64778749C>A,c.141C>A,p.F47L |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74321009T>C,c.*10+2T>C,p.3'UTRDonor |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74319538C>G,c.1709C>G,p.A570G |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74318340G>T,c.1651G>T,p.E551X |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74318320C>T,c.1631C>T,p.A544V |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74318176G>A,c.1487G>A,p.G496D |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74316373C>T,c.1331C>T,p.S444L |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74313380A>G,c.1045A>G,p.I349V |
AFP(NM_001134,alpha-fetoprotein,609aa) |
g.4:74310774C>G,c.778C>G,p.L260V |