Genename |
Variants |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178634681C>T,c.724G>A,p.A242T |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178634672C>T,c.733G>A,p.V245I |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178634641C>T,c.764G>A,p.R255Q |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178585825C>T,c.1031G>A,p.R344H |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178581162G>A,c.1270C>T,p.R424C |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178564818C>T,c.1903G>A,p.E635K |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178563002C>T,c.1993G>A,p.G665R |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178562980C>A,c.2015G>T,p.R672L |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178562923C>T,c.2072G>A,p.R691H |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178559249C>T,c.2272G>A,p.A758T |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178556953G>A,c.2437C>T,p.H813Y |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178556938C>T,c.2452G>A,p.V818I |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178555097C>T,c.2480G>A,p.R827Q |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178554983G>A,c.2594C>T,p.P865L |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178553029G>A,c.2720C>T,p.A907V |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178552137C>T,c.2795G>A,p.R932Q |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178552114C>T,c.2818G>A,p.V940M |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178552039C>T,c.2893G>A,p.E965K |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178549719G>A,c.3014C>T,p.A1005V |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178541023C>T,c.3481G>A,p.V1161I |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178540998C>A,c.3506G>T,p.G1169V |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178540975G>A,c.3529C>T,p.P1177S |
ADAMTS2(NM_014244,ADAM metallopeptidase with thrombospondin type 1 motif, 2,1211aa) |
g.5:178540960G>A,c.3544C>T,p.R1182X |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43847747C>T,c.1723G>A,p.G575R |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43847725C>T,c.1745G>A,p.R582H |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43846199G>T,c.1957C>A,p.R653S |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43846198C>T,c.1958G>A,p.R653H |
ADAMTS20(NM_025003,ADAM metallopeptidase with thrombospondin type 1 motif, 20,1910aa) |
g.12:43828141T>A,c.2627A>T,p.K876M |