Genename |
Variants |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32458676G>C,c.625G>C,p.E209Q |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32447064C>T,c.563C>T,p.T188M |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32260338A>G,c.73A>G,p.T25A |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60588565C>T,c.2839C>T,p.R947C |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60588553T>C,c.2827T>C,p.S943P |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60588535C>T,c.2809C>T,p.R937X |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60577396A>G,c.2608A>G,p.N870D |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60573675G>A,c.2462G>A,p.G821E |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60573594C>T,c.2381C>T,p.S794L |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60562953A>C,c.2132A>C,p.N711T |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60562867A>T,c.2046A>T,p.E682D |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60560050T>C,c.1822T>C,p.S608P |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60548136A>G,c.553A>G,p.I185V |
BICC1(NM_001080512,bicaudal C homolog 1 (Drosophila),974aa) |
g.10:60273034C>T,c.131C>T,p.P44L |
BHMT(NM_001713,betaine--homocysteine S-methyltransferase,406aa) |
g.5:78421959G>A,c.716G>A,p.R239Q |
BHMT(NM_001713,betaine--homocysteine S-methyltransferase,406aa) |
g.5:78417158G>A,c.595G>A,p.G199S |
BHMT(NM_001713,betaine--homocysteine S-methyltransferase,406aa) |
g.5:78411602C>T,c.46C>T,p.R16C |
BHMT2(NM_017614,betaine--homocysteine S-methyltransferase 2,363aa) |
g.5:78379069C>T,c.653C>T,p.T218M |
BHMT2(NM_017614,betaine--homocysteine S-methyltransferase 2,363aa) |
g.5:78378780G>A,c.598+1G>A,p.200Donor |
BHMT2(NM_017614,betaine--homocysteine S-methyltransferase 2,363aa) |
g.5:78376651C>T,c.400C>T,p.Q134X |
BHMT2(NM_017614,betaine--homocysteine S-methyltransferase 2,363aa) |
g.5:78376581_78376582insG,c.330_331insG,p.110fs |
BHMT2(NM_017614,betaine--homocysteine S-methyltransferase 2,363aa) |
g.5:78375222C>T,c.197C>T,p.A66V |
BHLHE41(NM_030762,basic helix-loop-helix family, member e41,482aa) |
g.12:26277654A>G,c.59T>C,p.I20T |
BHLHE41(NM_030762,basic helix-loop-helix family, member e41,482aa) |
g.12:26277507T>C,c.71A>G,p.Y24C |
BHLHE41(NM_030762,basic helix-loop-helix family, member e41,482aa) |
g.12:26275555G>A,c.893C>T,p.A298V |
BHLHE41(NM_030762,basic helix-loop-helix family, member e41,482aa) |
g.12:26275166C>T,c.1282G>A,p.A428T |
BHLHE40(NM_003670,basic helix-loop-helix family, member e40,412aa) |
g.3:5025309G>A,c.1171G>A,p.V391I |
BHLHE40(NM_003670,basic helix-loop-helix family, member e40,412aa) |
g.3:5025240C>T,c.1102C>T,p.P368S |