基因名 |
突变 |
ADAM18(NM_014237,ADAM metallopeptidase domain 18,739aa) |
g.8:39467043A>G,c.307A>G,p.N103D |
ADAM18(NM_014237,ADAM metallopeptidase domain 18,739aa) |
g.8:39442160C>T,c.19C>T,p.L7F |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9683364T>C,c.148A>G,p.I50V |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9667998T>C,c.536A>G,p.Q179R |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9667930T>C,c.604A>G,p.R202G |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9666349C>A,c.644G>T,p.R215I |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9658268G>A,c.1066C>T,p.P356S |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9642319C>G,c.1631G>C,p.G544A |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9633092C>T,c.2017G>A,p.V673I |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9630541G>A,c.2240C>T,p.S747L |
ADAM17(NM_003183,ADAM metallopeptidase domain 17,824aa) |
g.2:9630538G>A,c.2243C>T,p.A748V |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155033918C>T,c.2305C>T,p.P769S |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155033913C>T,c.2300C>T,p.P767L |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155033265G>A,c.2234G>A,p.R745Q |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155032770C>T,c.2158C>T,p.R720C |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155030599C>A,c.1689C>A,p.N563K |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155030595G>A,c.1685G>A,p.R562H |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155030534G>A,c.1624G>A,p.A542T |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155028562C>T,c.751C>T,p.R251W |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155028450C>A,c.718C>A,p.L240M |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155028299G>A,c.646G>A,p.E216K |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026947C>G,c.577C>G,p.P193A |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026942A>C,c.572A>C,p.K191T |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026854G>C,c.484G>C,p.G162R |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026834A>G,c.464A>G,p.Q155R |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026654G>A,c.371G>A,p.R124Q |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026438C>T,c.316C>T,p.R106W |
ADAM15(NM_207197,ADAM metallopeptidase domain 15,863aa) |
g.1:155026402C>T,c.280C>T,p.R94C |