Genename |
Variants |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18198717C>T,c.1342G>A,p.V448I |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18195768T>G,c.1551A>C,p.E517D |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18195712G>A,c.1607C>T,p.P536L |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18192186A>G,c.1945T>C,p.S649P |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18192174G>T,c.1957C>A,p.P653T |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101012914A>G,c.100T>C,p.S34P |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101006856C>T,c.412G>A,p.G138S |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101005562C>T,c.526G>A,p.D176N |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101005556C>T,c.532G>A,p.V178I |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101005487C>T,c.601G>A,p.D201N |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101005435G>T,c.653C>A,p.P218Q |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101004865C>T,c.1223G>A,p.R408Q |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101004700C>T,c.1388G>A,p.R463H |
BEGAIN(NM_001159531,brain-enriched guanylate kinase-associated,593aa) |
g.14:101004382G>A,c.1706C>T,p.P569L |
BECN1(NM_003766,beclin 1, autophagy related,450aa) |
g.17:40971605C>T,c.221G>A,p.R74H |
BECN1(NM_003766,beclin 1, autophagy related,450aa) |
g.17:40970264C>T,c.658G>A,p.E220K |
BECN1(NM_003766,beclin 1, autophagy related,450aa) |
g.17:40962888T>C,c.1243A>G,p.I415V |
BEAN1(NM_001178020,brain expressed, associated with NEDD4, 1,259aa) |
g.16:66514612C>G,c.564C>G,p.H188Q |
BEAN1(NM_001178020,brain expressed, associated with NEDD4, 1,259aa) |
g.16:66511561G>A,c.388G>A,p.G130R |
BEAN1(NM_001178020,brain expressed, associated with NEDD4, 1,259aa) |
g.16:66503705C>A,c.226C>A,p.R76S |
BEAN1(NM_001178020,brain expressed, associated with NEDD4, 1,259aa) |
g.16:66503684C>T,c.205C>T,p.R69W |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70860710T>G,c.7873T>G,p.X2625E |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70858342A>G,c.7738A>G,p.T2580A |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70858268A>G,c.7664A>G,p.N2555S |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70858250A>G,c.7646A>G,p.N2549S |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70849136T>G,c.7189T>G,p.Y2397D |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70845400A>G,c.6962A>G,p.K2321R |
BDP1(NM_018429,B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB,2624aa) |
g.5:70840909T>G,c.6607T>G,p.S2203A |