基因名 |
突变 |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15584474C>G,c.332G>C,p.W111S |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15430506T>C,c.701A>G,p.K234R |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15427137G>A,c.851C>T,p.T284I |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15425168G>A,c.977C>T,p.P326L |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15405840G>A,c.1082C>T,p.S361L |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15405216G>A,c.1186C>T,p.R396C |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15405189G>A,c.1213C>T,p.R405X |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15405188C>T,c.1214G>A,p.R405Q |
AGMO(NM_001004320,alkylglycerol monooxygenase,445aa) |
g.7:15405170G>A,c.1232C>T,p.P411L |
AGMAT(NM_024758,agmatine ureohydrolase (agmatinase),352aa) |
g.1:15909850C>G,c.313G>C,p.G105R |
AGMAT(NM_024758,agmatine ureohydrolase (agmatinase),352aa) |
g.1:15909744C>T,c.419G>A,p.R140Q |
AGMAT(NM_024758,agmatine ureohydrolase (agmatinase),352aa) |
g.1:15905482T>G,c.592A>C,p.K198Q |
AGMAT(NM_024758,agmatine ureohydrolase (agmatinase),352aa) |
g.1:15905471G>T,c.603C>A,p.H201Q |
AGMAT(NM_024758,agmatine ureohydrolase (agmatinase),352aa) |
g.1:15905363G>T,c.711C>A,p.N237K |
AGMAT(NM_024758,agmatine ureohydrolase (agmatinase),352aa) |
g.1:15900201G>A,c.1004C>T,p.A335V |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100382266G>A,c.4460G>A,p.R1487Q |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100382037A>G,c.4331A>G,p.N1444S |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100379208C>T,c.4075C>T,p.R1359C |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100379160G>A,c.4027G>A,p.E1343K |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100376325G>A,c.3758G>A,p.R1253H |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100368318G>A,c.3668G>A,p.G1223D |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100368269G>A,c.3619G>A,p.A1207T |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100361925G>A,c.3343G>A,p.G1115R |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100358107A>G,c.3203A>G,p.Y1068C |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100358103C>T,c.3199C>T,p.P1067S |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100356893G>A,c.2930G>A,p.R977Q |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100349983C>T,c.2522C>T,p.S841F |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100349947A>G,c.2486A>G,p.N829S |