Genename |
Variants |
BVES(NM_001199563,blood vessel epicardial substance,360aa) |
g.6:105581328T>C,c.125A>G,p.H42R |
BVES(NM_001199563,blood vessel epicardial substance,360aa) |
g.6:105577255G>A,c.350C>T,p.P117L |
BVES(NM_001199563,blood vessel epicardial substance,360aa) |
g.6:105573420G>A,c.385C>T,p.R129W |
BVES(NM_001199563,blood vessel epicardial substance,360aa) |
g.6:105573398C>T,c.407G>A,p.R136H |
BVES(NM_001199563,blood vessel epicardial substance,360aa) |
g.6:105563677A>G,c.842T>C,p.L281P |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633947G>A,c.358C>T,p.R120C |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633862G>A,c.443C>T,p.P148L |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633763C>T,c.542G>A,p.R181H |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633749C>G,c.556G>C,p.D186H |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633724C>T,c.581G>A,p.R194H |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633580C>A,c.725G>T,p.R242I |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116633554T>A,c.751A>T,p.T251S |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116631627G>A,c.1078C>T,p.R360W |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116631554C>T,c.1151G>A,p.R384Q |
BUD13(NM_032725,BUD13 homolog (S. cerevisiae),619aa) |
g.11:116631542G>C,c.1163C>G,p.S388C |
BUB3(NM_004725,BUB3 mitotic checkpoint protein,328aa) |
g.10:124919951G>A,c.446G>A,p.R149Q |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111431788C>T,c.100G>A,p.V34I |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111431718del,c.170del,p.57fs |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111430353T>C,c.307A>G,p.I103V |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111425226G>A,c.677C>T,p.A226V |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111419406G>T,c.970C>A,p.R324S |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111419345T>C,c.1031A>G,p.Y344C |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111419175C>T,c.1201G>A,p.A401T |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111415139T>C,c.1600A>G,p.N534D |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111413322C>T,c.1870G>A,p.D624N |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111406955C>T,c.2204-1G>A,p.735Acceptor |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111406882C>T,c.2276G>A,p.S759N |
BUB1(NM_004336,BUB1 mitotic checkpoint serine/threonine kinase,1085aa) |
g.2:111406862C>A,c.2296G>T,p.E766X |