Genename |
Variants |
ACAN(NM_013227,aggrecan,2530aa) |
g.15:89382129C>A,c.306C>A,p.D102E |
ACAN(NM_013227,aggrecan,2530aa) |
g.15:89382053G>A,c.230G>A,p.R77H |
ACAN(NM_013227,aggrecan,2530aa) |
g.15:89382022G>A,c.199G>A,p.A67T |
ACAN(NM_013227,aggrecan,2530aa) |
g.15:89382008C>A,c.185C>A,p.T62N |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7128292G>A,c.1616G>A,p.R539Q |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7127698C>T,c.1363C>T,p.R455W |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7127674G>A,c.1339G>A,p.G447R |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7127303G>A,c.1121G>A,p.R374H |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7127026G>A,c.1018G>A,p.A340T |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7126064G>A,c.729G>A,p.S243S |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7125608G>A,c.637G>A,p.G213R |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7124115A>G,c.80A>G,p.K27R |
ACADVL(NM_001270448,acyl-CoA dehydrogenase, very long chain,579aa) |
g.17:7124093G>A,c.58G>A,p.E20K |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121177142C>T,c.1130C>T,p.P377L |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121177117G>A,c.1105G>A,p.G369S |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121176971C>T,c.1058C>T,p.S353L |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121176678G>A,c.989G>A,p.R330H |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121176355G>A,c.815G>A,p.R272H |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121176348A>G,c.808A>G,p.M270V |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121176083G>A,c.625G>A,p.G209S |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121175745C>T,c.578C>T,p.S193L |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121175678C>T,c.511C>T,p.R171W |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121175211C>T,c.413C>T,p.A138V |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121174900G>A,c.322G>A,p.G108S |
ACADS(NM_000017,acyl-CoA dehydrogenase, C-2 to C-3 short chain,412aa) |
g.12:121164946C>T,c.164C>T,p.P55L |
ACADSB(NM_001609,acyl-CoA dehydrogenase, short/branched chain,432aa) |
g.10:124812613A>G,c.1165A>G,p.M389V |
ACADSB(NM_001609,acyl-CoA dehydrogenase, short/branched chain,432aa) |
g.10:124806770A>G,c.946A>G,p.I316V |
ACADSB(NM_001609,acyl-CoA dehydrogenase, short/branched chain,432aa) |
g.10:124803949A>G,c.848A>G,p.Y283C |