Genename |
Variants |
BPIFA3(NM_178466,BPI fold containing family A, member 3,254aa) |
g.20:31811616G>T,c.128-1G>T,p.43Acceptor |
BPIFA3(NM_178466,BPI fold containing family A, member 3,254aa) |
g.20:31805464C>A,c.122C>A,p.A41E |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31767470G>C,c.706G>C,p.V236L |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31767470G>A,c.706G>A,p.V236I |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31767461C>T,c.697C>T,p.Q233X |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31767425C>T,c.661C>T,p.R221C |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31761919A>G,c.337A>G,p.K113E |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31757102C>G,c.151C>G,p.L51V |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31757078G>A,c.127G>A,p.G43R |
BPIFA2(NM_080574,BPI fold containing family A, member 2,249aa) |
g.20:31756954G>A,c.3G>A,p.M1I |
BPIFA1(NM_130852,BPI fold containing family A, member 1,256aa) |
g.20:31828085A>T,c.475A>T,p.I159F |
BPIFA1(NM_130852,BPI fold containing family A, member 1,256aa) |
g.20:31826009C>G,c.309C>G,p.N103K |
BPIFA1(NM_130852,BPI fold containing family A, member 1,256aa) |
g.20:31825867G>A,c.167G>A,p.S56N |
BPIFA1(NM_130852,BPI fold containing family A, member 1,256aa) |
g.20:31825593G>A,c.76G>A,p.V26M |
BPIFA1(NM_130852,BPI fold containing family A, member 1,256aa) |
g.20:31825591C>T,c.74C>T,p.P25L |
BPHL(NM_004332,biphenyl hydrolase-like (serine hydrolase),291aa) |
g.6:3152781A>G,c.848A>G,p.N283S |
BPHL(NM_004332,biphenyl hydrolase-like (serine hydrolase),291aa) |
g.6:3152760T>C,c.827T>C,p.L276S |
BPHL(NM_004332,biphenyl hydrolase-like (serine hydrolase),291aa) |
g.6:3140712G>A,c.757G>A,p.D253N |
BPHL(NM_004332,biphenyl hydrolase-like (serine hydrolase),291aa) |
g.6:3129280C>T,c.380C>T,p.A127V |
BPHL(NM_004332,biphenyl hydrolase-like (serine hydrolase),291aa) |
g.6:3127644T>C,c.378+2T>C,p.126Donor |
BPHL(NM_004332,biphenyl hydrolase-like (serine hydrolase),291aa) |
g.6:3123967G>A,c.184G>A,p.A62T |
BPGM(NM_199186,2,3-bisphosphoglycerate mutase,259aa) |
g.7:134363637C>G,c.634C>G,p.L212V |
BPGM(NM_199186,2,3-bisphosphoglycerate mutase,259aa) |
g.7:134346785G>A,c.526G>A,p.E176K |
BORA(NM_024808,bora, aurora kinase A activator,559aa) |
g.13:73327921T>C,c.1576T>C,p.C526R |
BORA(NM_024808,bora, aurora kinase A activator,559aa) |
g.13:73321218G>A,c.1451G>A,p.S484N |
BORA(NM_024808,bora, aurora kinase A activator,559aa) |
g.13:73321056A>G,c.1289A>G,p.N430S |
BORA(NM_024808,bora, aurora kinase A activator,559aa) |
g.13:73320924G>A,c.1157G>A,p.R386Q |
BORA(NM_024808,bora, aurora kinase A activator,559aa) |
g.13:73320152C>T,c.809C>T,p.S270L |