基因名 |
突变 |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89220556C>T,c.1672C>T,p.R558W |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89220496A>G,c.1614-2A>G,p.538Acceptor |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89212412G>A,c.1568G>A,p.R523Q |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89212406C>G,c.1562C>G,p.T521S |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89211764G>A,c.1456G>A,p.A486T |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89211714G>A,c.1406G>A,p.R469Q |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89187295G>A,c.1213G>A,p.A405T |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89180883G>A,c.1114G>A,p.V372M |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89178531C>T,c.854C>T,p.P285L |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89169066G>A,c.721G>A,p.V241M |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89167634C>T,c.545C>T,p.P182L |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89167625T>G,c.536T>G,p.V179G |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89167138G>C,c.49G>C,p.A17P |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89167094T>C,c.5T>C,p.L2P |
ACSF3(NM_001243279,acyl-CoA synthetase family member 3,576aa) |
g.16:89167090A>G,c.1A>G,p.M1V |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48551348G>A,c.1711G>A,p.A571T |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48551276C>T,c.1639C>T,p.R547W |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48539858C>A,c.704C>A,p.A235D |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48538186G>A,c.277G>A,p.V93I |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48538117A>C,c.208A>C,p.N70H |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48538067C>T,c.158C>T,p.T53M |
ACSF2(NM_025149,acyl-CoA synthetase family member 2,615aa) |
g.17:48503677G>T,c.55G>T,p.G19W |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187805G>C,c.1876G>C,p.E626Q |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187800G>A,c.1871G>A,p.R624K |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187731C>G,c.1802C>G,p.P601R |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187728A>T,c.1799A>T,p.D600V |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187686G>A,c.1757G>A,p.G586D |
ACSBG2(NM_030924,acyl-CoA synthetase bubblegum family member 2,666aa) |
g.19:6187680G>A,c.1751G>A,p.G584D |