Genename Variants
BCL2A1(NM_001114735,BCL2-related protein A1,163aa) g.15:80263345A>C,c.117T>G,p.N39K
BCL2A1(NM_001114735,BCL2-related protein A1,163aa) g.15:80263217C>T,c.245G>A,p.G82D
BCL2A1(NM_001114735,BCL2-related protein A1,163aa) g.15:80263167G>C,c.295C>G,p.L99V
BCL11A(NM_022893,B-cell CLL/lymphoma 11A (zinc finger protein),835aa) g.2:60773406C>G,c.85G>C,p.D29H
BCL11A(NM_022893,B-cell CLL/lymphoma 11A (zinc finger protein),835aa) g.2:60689217_60689218insG,c.829_830insC,p.277fs
BCL10(NM_003921,B-cell CLL/lymphoma 10,233aa) g.1:85742023C>A,c.13G>T,p.A5S
BCL10(NM_003921,B-cell CLL/lymphoma 10,233aa) g.1:85742012G>C,c.24C>G,p.L8L
BCL10(NM_003921,B-cell CLL/lymphoma 10,233aa) g.1:85736358G>C,c.289C>G,p.Q97E
BCL10(NM_003921,B-cell CLL/lymphoma 10,233aa) g.1:85733527G>A,c.485C>T,p.T162M
BCL10(NM_003921,B-cell CLL/lymphoma 10,233aa) g.1:85733374C>T,c.638G>A,p.G213E
BCKDK(NM_001122957,branched chain ketoacid dehydrogenase kinase,365aa) g.16:31123320A>T,c.1066A>T,p.S356C
BCKDK(NM_001122957,branched chain ketoacid dehydrogenase kinase,365aa) g.16:31122692A>G,c.917A>G,p.D306G
BCKDK(NM_001122957,branched chain ketoacid dehydrogenase kinase,365aa) g.16:31122446C>T,c.751C>T,p.R251C
BCKDK(NM_001122957,branched chain ketoacid dehydrogenase kinase,365aa) g.16:31122058T>C,c.692T>C,p.I231T
BCKDK(NM_001122957,branched chain ketoacid dehydrogenase kinase,365aa) g.16:31121102G>A,c.373G>A,p.V125M
BCKDHB(NM_183050,branched chain keto acid dehydrogenase E1, beta polypeptide,392aa) g.6:80816532C>T,c.122C>T,p.T41I
BCKDHB(NM_183050,branched chain keto acid dehydrogenase E1, beta polypeptide,392aa) g.6:80816424C>T,c.14C>T,p.A5V
BCKDHA(NM_000709,branched chain keto acid dehydrogenase E1, alpha polypeptide,445aa) g.19:41930386A>G,c.1211A>G,p.N404S
BCKDHA(NM_000709,branched chain keto acid dehydrogenase E1, alpha polypeptide,445aa) g.19:41930367G>A,c.1192G>A,p.E398K
BCKDHA(NM_000709,branched chain keto acid dehydrogenase E1, alpha polypeptide,445aa) g.19:41928988A>G,c.1081A>G,p.I361V
BCKDHA(NM_000709,branched chain keto acid dehydrogenase E1, alpha polypeptide,445aa) g.19:41920030C>T,c.452C>T,p.T151M
BCKDHA(NM_000709,branched chain keto acid dehydrogenase E1, alpha polypeptide,445aa) g.19:41916549C>A,c.116C>A,p.P39H
BCHE(NM_000055,butyrylcholinesterase,602aa) g.3:165548806T>A,c.16A>T,p.T6S
BCHE(NM_000055,butyrylcholinesterase,602aa) g.3:165548529T>C,c.293A>G,p.D98G
BCHE(NM_000055,butyrylcholinesterase,602aa) g.3:165548394C>T,c.428G>A,p.G143D
BCHE(NM_000055,butyrylcholinesterase,602aa) g.3:165548187G>A,c.635C>T,p.A212V
BCHE(NM_000055,butyrylcholinesterase,602aa) g.3:165547973C>G,c.849G>C,p.E283D
BCHE(NM_000055,butyrylcholinesterase,602aa) g.3:165547938T>C,c.884A>G,p.K295R
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