基因名 |
突变 |
ADAM32(NM_145004,ADAM metallopeptidase domain 32,787aa) |
g.8:39080632C>G,c.1400C>G,p.T467S |
ADAM32(NM_145004,ADAM metallopeptidase domain 32,787aa) |
g.8:39068671A>G,c.1061A>G,p.N354S |
ADAM32(NM_145004,ADAM metallopeptidase domain 32,787aa) |
g.8:39027452G>A,c.851G>A,p.R284H |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120438827T>C,c.133A>G,p.I45V |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120438652T>C,c.308A>G,p.H103R |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120438488C>A,c.472G>T,p.V158F |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120438430T>C,c.530A>G,p.D177G |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120438295T>C,c.665A>G,p.N222S |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120437977T>C,c.983A>G,p.N328S |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120437884A>G,c.1076T>C,p.L359P |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120436918G>A,c.2042C>T,p.A681V |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120436895C>G,c.2065G>C,p.V689L |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120436751T>C,c.2209A>G,p.T737A |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120436711T>C,c.2249A>G,p.Q750R |
ADAM30(NM_021794,ADAM metallopeptidase domain 30,790aa) |
g.1:120436700C>T,c.2260G>A,p.E754K |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39695687A>C,c.18T>G,p.F6L |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39695677C>A,c.28G>T,p.G10W |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39695671C>T,c.34G>A,p.G12S |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39695662G>A,c.43C>T,p.R15W |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39694696C>T,c.91G>A,p.E31K |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39646261T>A,c.571-2A>T,p.191Acceptor |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39645670T>G,c.743A>C,p.H248P |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39645631C>T,c.782G>A,p.R261H |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39644551A>G,c.833T>C,p.V278A |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39624438A>G,c.1436T>C,p.L479P |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39624373C>T,c.1501G>A,p.G501S |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39613406T>C,c.1638A>G,p.I546M |
ADAM2(NM_001464,ADAM metallopeptidase domain 2,735aa) |
g.8:39606935G>A,c.1910C>T,p.A637V |