基因名 |
突变 |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187631G>A,c.1702G>A,p.G568R |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6185506T>C,c.1382T>C,p.I461T |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6183185C>A,c.1224C>A,p.F408L |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6177261G>T,c.760G>T,p.V254L |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6165994A>T,c.706A>T,p.I236L |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6156510A>G,c.455A>G,p.K152R |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6156483T>C,c.428T>C,p.V143A |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6147640A>G,c.251A>G,p.N84S |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6147483C>T,c.94C>T,p.R32X |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6141593T>A,c.39T>A,p.D13E |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78526804C>T,c.40G>A,p.G14R |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78526798G>A,c.46C>T,p.P16S |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78487042C>T,c.259G>A,p.D87N |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78475108T>A,c.683A>T,p.H228L |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78473160C>T,c.1190G>A,p.R397Q |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78466127T>C,c.1897A>G,p.M633V |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78466037C>G,c.1987G>C,p.E663Q |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78466027C>T,c.1997G>A,p.R666Q |
ACSBG1(NM_015162,acyl-CoA synthetase bubblegum family member 1,724aa) |
g.15:78466006G>A,c.2018C>T,p.A673V |
ACRV1(NM_001612,acrosomal vesicle protein 1,265aa) |
g.11:125548192C>T,c.53G>A,p.G18E |
ACRV1(NM_001612,acrosomal vesicle protein 1,265aa) |
g.11:125547869C>T,c.376G>A,p.G126R |
ACRV1(NM_001612,acrosomal vesicle protein 1,265aa) |
g.11:125546370G>A,c.557C>T,p.T186I |
ACRV1(NM_001612,acrosomal vesicle protein 1,265aa) |
g.11:125542576T>A,c.710A>T,p.N237I |
ACR(NM_001097,acrosin,421aa) |
g.22:51183421C>T,c.1052C>T,p.P351L |
ACR(NM_001097,acrosin,421aa) |
g.22:51183255A>G,c.886A>G,p.M296V |
ACR(NM_001097,acrosin,421aa) |
g.22:51178313T>C,c.473T>C,p.I158T |
ACR(NM_001097,acrosin,421aa) |
g.22:51178150G>A,c.310G>A,p.G104R |
ACR(NM_001097,acrosin,421aa) |
g.22:51177731C>G,c.110C>G,p.P37R |