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
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org