Genename |
Variants |
ACAT2(NM_005891,acetyl-CoA acetyltransferase 2,397aa) |
g.6:160196343A>G,c.632A>G,p.K211R |
ACAT2(NM_005891,acetyl-CoA acetyltransferase 2,397aa) |
g.6:160196237G>A,c.526G>A,p.E176K |
ACAT1(NM_000019,acetyl-CoA acetyltransferase 1,427aa) |
g.11:108012417G>T,c.816G>T,p.Q272H |
ACAT1(NM_000019,acetyl-CoA acetyltransferase 1,427aa) |
g.11:108004600C>G,c.174C>G,p.S58R |
ACAT1(NM_000019,acetyl-CoA acetyltransferase 1,427aa) |
g.11:107992346G>C,c.13G>C,p.A5P |
ACAP3(NM_030649,ArfGAP with coiled-coil, ankyrin repeat and PH domains 3,834aa) |
g.1:1238583G>A,c.184C>T,p.R62C |
ACAP3(NM_030649,ArfGAP with coiled-coil, ankyrin repeat and PH domains 3,834aa) |
g.1:1233791A>C,c.874T>G,p.S292A |
ACAP3(NM_030649,ArfGAP with coiled-coil, ankyrin repeat and PH domains 3,834aa) |
g.1:1232004G>A,c.1138C>T,p.R380C |
ACAP3(NM_030649,ArfGAP with coiled-coil, ankyrin repeat and PH domains 3,834aa) |
g.1:1231208C>T,c.1613G>A,p.C538Y |
ACAP3(NM_030649,ArfGAP with coiled-coil, ankyrin repeat and PH domains 3,834aa) |
g.1:1231203G>A,c.1618C>T,p.R540W |
ACAP3(NM_030649,ArfGAP with coiled-coil, ankyrin repeat and PH domains 3,834aa) |
g.1:1230919C>T,c.1721G>A,p.R574H |
ACAP2(NM_012287,ArfGAP with coiled-coil, ankyrin repeat and PH domains 2,778aa) |
g.3:195015490A>G,c.1723T>C,p.S575P |
ACAP2(NM_012287,ArfGAP with coiled-coil, ankyrin repeat and PH domains 2,778aa) |
g.3:195015462C>A,c.1751G>T,p.S584I |
ACAP2(NM_012287,ArfGAP with coiled-coil, ankyrin repeat and PH domains 2,778aa) |
g.3:195013094T>C,c.1853A>G,p.N618S |
ACAP2(NM_012287,ArfGAP with coiled-coil, ankyrin repeat and PH domains 2,778aa) |
g.3:195012451C>T,c.2047G>A,p.V683I |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7254697G>A,c.2206G>A,p.D736N |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7254315G>A,c.2119G>A,p.A707T |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7252365G>A,c.1730G>A,p.R577Q |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7251713C>T,c.1597C>T,p.R533W |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7246859G>A,c.506G>A,p.R169Q |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7246835C>T,c.482C>T,p.T161M |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7245358G>A,c.203G>A,p.R68H |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7245333G>A,c.178G>A,p.V60I |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7240678G>A,c.101G>A,p.R34H |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7240641G>T,c.64G>T,p.E22X |
ACAP1(NM_014716,ArfGAP with coiled-coil, ankyrin repeat and PH domains 1,740aa) |
g.17:7240632G>A,c.55G>A,p.A19T |
ACAN(NM_013227,aggrecan,2530aa) |
g.15:89417238A>G,c.7499A>G,p.Q2500R |
ACAN(NM_013227,aggrecan,2530aa) |
g.15:89417117G>A,c.7378G>A,p.G2460R |