Genename |
Variants |
ANAPC11(NM_001002244,anaphase promoting complex subunit 11,196aa) |
g.17:79857812C>T,c.427C>T,p.R143X |
ANAPC11(NM_001002244,anaphase promoting complex subunit 11,196aa) |
g.17:79857229C>T,c.221C>T,p.T74M |
ANAPC10(NM_001256708,anaphase promoting complex subunit 10,185aa) |
g.4:145916666A>C,c.417T>G,p.I139M |
AMZ2(NM_016627,archaelysin family metallopeptidase 2,360aa) |
g.17:66252960_66252964del,c.933_937del,p.311fs |
AMZ2(NM_016627,archaelysin family metallopeptidase 2,360aa) |
g.17:66251938G>A,c.848G>A,p.R283Q |
AMZ2(NM_016627,archaelysin family metallopeptidase 2,360aa) |
g.17:66250649A>G,c.691A>G,p.I231V |
AMZ2(NM_016627,archaelysin family metallopeptidase 2,360aa) |
g.17:66247237C>G,c.504C>G,p.F168L |
AMZ2(NM_016627,archaelysin family metallopeptidase 2,360aa) |
g.17:66246432G>A,c.104G>A,p.R35H |
AMZ2(NM_016627,archaelysin family metallopeptidase 2,360aa) |
g.17:66246416A>G,c.88A>G,p.N30D |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752487G>A,c.1472G>A,p.R491H |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752486C>T,c.1471C>T,p.R491C |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752456C>T,c.1441C>T,p.R481X |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752405C>T,c.1390C>T,p.R464C |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752396G>A,c.1381G>A,p.V461M |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752383C>A,c.1368C>A,p.S456R |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752346C>T,c.1331C>T,p.T444M |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752330C>T,c.1315C>T,p.R439C |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752322C>T,c.1307C>T,p.A436V |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752321G>A,c.1306G>A,p.A436T |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752241G>A,c.1226G>A,p.R409Q |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752240C>T,c.1225C>T,p.R409W |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752196C>T,c.1181C>T,p.P394L |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752132G>A,c.1117G>A,p.G373R |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752109C>T,c.1094C>T,p.S365L |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752057G>A,c.1042G>A,p.A348T |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2752046C>T,c.1031C>T,p.P344L |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2749439G>A,c.937G>A,p.E313K |
AMZ1(NM_133463,archaelysin family metallopeptidase 1,498aa) |
g.7:2749437T>C,c.935T>C,p.I312T |