Genename |
Variants |
BRIX1(NM_018321,BRX1, biogenesis of ribosomes, homolog (S. cerevisiae),353aa) |
g.5:34923313A>G,c.637A>G,p.N213D |
BRIX1(NM_018321,BRX1, biogenesis of ribosomes, homolog (S. cerevisiae),353aa) |
g.5:34919970G>C,c.297G>C,p.K99N |
BRIX1(NM_018321,BRX1, biogenesis of ribosomes, homolog (S. cerevisiae),353aa) |
g.5:34915857A>G,c.14A>G,p.K5R |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59937223G>C,c.139C>G,p.P47A |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59934428T>C,c.370A>G,p.T124A |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59926567C>T,c.430G>A,p.A144T |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59924572G>A,c.517C>T,p.R173C |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59924512C>T,c.577G>A,p.V193I |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59886108T>C,c.638A>G,p.H213R |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59886010T>C,c.736A>G,p.I246V |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59876546G>A,c.1255C>T,p.R419W |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59870998T>C,c.1433A>G,p.H478R |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59793412G>A,c.2392C>T,p.R798X |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59793364G>A,c.2440C>T,p.R814C |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59763347A>G,c.2755T>C,p.S919P |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59763298A>C,c.2804T>G,p.V935G |
BRIP1(NM_032043,BRCA1 interacting protein C-terminal helicase 1,1249aa) |
g.17:59763272G>C,c.2830C>G,p.Q944E |
BRINP2(NM_021165,bone morphogenetic protein/retinoic acid inducible neural-specific 2,783aa) |
g.1:177249757C>T,c.1445C>T,p.P482L |
BRINP2(NM_021165,bone morphogenetic protein/retinoic acid inducible neural-specific 2,783aa) |
g.1:177247854C>G,c.1168C>G,p.L390V |
BRINP2(NM_021165,bone morphogenetic protein/retinoic acid inducible neural-specific 2,783aa) |
g.1:177245364G>A,c.806G>A,p.R269H |
BRINP2(NM_021165,bone morphogenetic protein/retinoic acid inducible neural-specific 2,783aa) |
g.1:177245355A>C,c.797A>C,p.E266A |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:122075584C>T,c.50G>A,p.R17H |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:122075527T>C,c.107A>G,p.K36R |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:122011288G>T,c.359C>A,p.T120N |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:122004445C>A,c.459G>T,p.K153N |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:122004380C>T,c.524G>A,p.R175H |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:121976335T>C,c.784A>G,p.N262D |
BRINP1(NM_014618,bone morphogenetic protein/retinoic acid inducible neural-specific 1,761aa) |
g.9:121976323G>A,c.796C>T,p.R266C |