基因名 |
突变 |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924619G>C,c.403G>C,p.V135L |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924602T>G,c.386T>G,p.F129C |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924566C>G,c.350C>G,p.A117G |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924553G>A,c.337G>A,p.G113S |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924517G>A,c.301G>A,p.D101N |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924501C>G,c.285C>G,p.D95E |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924422G>A,c.206G>A,p.G69D |
ADAM21(NM_003813,ADAM metallopeptidase domain 21,722aa) |
g.14:70924335C>T,c.119C>T,p.P40L |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70990738T>C,c.887A>G,p.H296R |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70990615A>G,c.1010T>C,p.L337P |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70990348A>C,c.1277T>G,p.F426C |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70989964T>C,c.1661A>G,p.Y554C |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70989947T>C,c.1678A>G,p.N560D |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70989851C>T,c.1774G>A,p.G592S |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70989811C>T,c.1814G>A,p.W605X |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70989413T>A,c.2212A>T,p.M738L |
ADAM20(NM_003814,ADAM metallopeptidase domain 20,776aa) |
g.14:70989377G>A,c.2248C>T,p.L750F |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:157002695C>T,c.10G>A,p.G4S |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:157002628C>A,c.77G>T,p.R26L |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156991445G>A,c.187C>T,p.L63F |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156946896C>G,c.551G>C,p.R184T |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156946851C>T,c.596G>A,p.R199H |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156936418C>T,c.796G>A,p.G266R |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156936364T>C,c.850A>G,p.S284G |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156929869C>T,c.1250G>A,p.R417Q |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156929816C>T,c.1303G>A,p.E435K |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156923974C>T,c.1522G>A,p.G508S |
ADAM19(NM_033274,ADAM metallopeptidase domain 19,918aa) |
g.5:156918850C>T,c.1979G>A,p.G660D |