Genename |
Variants |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165547863G>A,c.959C>T,p.P320L |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165547625del,c.1197del,p.399fs |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165547569C>A,c.1253G>T,p.G418V |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165504085G>C,c.1532C>G,p.T511S |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165504004A>G,c.1613T>C,p.I538T |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165503998G>A,c.1619C>T,p.T540M |
BCHE(NM_000055,butyrylcholinesterase,602aa) |
g.3:165491280C>T,c.1699G>A,p.A567T |
BCDIN3D(NM_181708,BCDIN3 domain containing,292aa) |
g.12:50232746G>A,c.287C>T,p.T96I |
BCDIN3D(NM_181708,BCDIN3 domain containing,292aa) |
g.12:50232608C>T,c.425G>A,p.R142Q |
BCDIN3D(NM_181708,BCDIN3 domain containing,292aa) |
g.12:50232353C>T,c.680G>A,p.R227Q |
BCDIN3D(NM_181708,BCDIN3 domain containing,292aa) |
g.12:50232169A>T,c.864T>A,p.S288R |
BCCIP(NM_078469,BRCA2 and CDKN1A interacting protein,292aa) |
g.10:127522475C>T,c.734C>T,p.A245V |
BCCIP(NM_078469,BRCA2 and CDKN1A interacting protein,292aa) |
g.10:127522465A>C,c.724A>C,p.K242Q |
BCCIP(NM_078469,BRCA2 and CDKN1A interacting protein,292aa) |
g.10:127520029G>A,c.452G>A,p.R151H |
BCCIP(NM_078469,BRCA2 and CDKN1A interacting protein,292aa) |
g.10:127512145C>G,c.19C>G,p.R7G |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49309937T>C,c.137A>G,p.H46R |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49309776G>C,c.298C>G,p.Q100E |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49303070G>C,c.557C>G,p.T186R |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49300511C>T,c.775G>A,p.D259N |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49299954G>A,c.946C>T,p.R316C |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49299903G>A,c.997C>T,p.R333W |
BCAT2(NM_001190,branched chain amino-acid transaminase 2, mitochondrial,392aa) |
g.19:49299896A>G,c.1004T>C,p.V335A |
BCAT1(NM_005504,branched chain amino-acid transaminase 1, cytosolic,386aa) |
g.12:25047359G>T,c.129C>A,p.D43E |
BCAT1(NM_005504,branched chain amino-acid transaminase 1, cytosolic,386aa) |
g.12:25047312G>A,c.176C>T,p.T59M |
BCAT1(NM_005504,branched chain amino-acid transaminase 1, cytosolic,386aa) |
g.12:25002847G>A,c.547C>T,p.L183F |
BCAT1(NM_005504,branched chain amino-acid transaminase 1, cytosolic,386aa) |
g.12:25002738C>G,c.656G>C,p.G219A |
BCAT1(NM_005504,branched chain amino-acid transaminase 1, cytosolic,386aa) |
g.12:24985740C>T,c.961G>A,p.E321K |
BCAT1(NM_005504,branched chain amino-acid transaminase 1, cytosolic,386aa) |
g.12:24985659C>T,c.1042G>A,p.E348K |