基因名 |
突变 |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43826204C>T,c.2999G>A,p.R1000H |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43826109C>T,c.3094G>A,p.E1032K |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43823440G>A,c.3469C>T,p.R1157X |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43822171G>A,c.3818C>T,p.S1273F |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43822156C>T,c.3833G>A,p.S1278N |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43821184G>A,c.4034C>T,p.A1345V |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43821155C>A,c.4063G>T,p.G1355C |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43821125C>T,c.4093G>A,p.G1365R |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43777630C>A,c.4603G>T,p.G1535W |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28217059C>T,c.215G>A,p.G72E |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28216961C>T,c.313G>A,p.V105M |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28216919C>G,c.355G>C,p.D119H |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28216595C>G,c.679G>C,p.A227P |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28214255C>A,c.1132G>T,p.V378L |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28213333A>C,c.1362T>G,p.F454L |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28212861G>C,c.1399C>G,p.P467A |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28212379G>A,c.1667C>T,p.T556M |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28212212C>T,c.1834G>A,p.D612N |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28210854C>T,c.2108G>A,p.R703H |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28210535C>T,c.2267G>A,p.R756Q |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28210457T>C,c.2345A>G,p.D782G |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28210368G>A,c.2434C>T,p.R812C |
ADAMTS1(NM_006988,ADAM metallopeptidase with thrombospondin type 1 motif, 1,967aa) |
g.21:28210209C>T,c.2593G>A,p.E865K |
ADAMTS19(NM_133638,ADAM metallopeptidase with thrombospondin type 1 motif, 19,1207aa) |
g.5:129072868C>T,c.3581C>T,p.T1194I |
ADAMTS19(NM_133638,ADAM metallopeptidase with thrombospondin type 1 motif, 19,1207aa) |
g.5:129072807C>T,c.3520C>T,p.R1174X |
ADAMTS19(NM_133638,ADAM metallopeptidase with thrombospondin type 1 motif, 19,1207aa) |
g.5:129040056A>T,c.3266A>T,p.Y1089F |
ADAMTS19(NM_133638,ADAM metallopeptidase with thrombospondin type 1 motif, 19,1207aa) |
g.5:129030526A>C,c.2914A>C,p.N972H |
ADAMTS19(NM_133638,ADAM metallopeptidase with thrombospondin type 1 motif, 19,1207aa) |
g.5:128983484C>A,c.1881C>A,p.S627R |