Genename |
Variants |
AGBL1(NM_152336,ATP/GTP binding protein-like 1,1066aa) |
g.15:86697675C>T,c.139C>T,p.R47W |
AGBL1(NM_152336,ATP/GTP binding protein-like 1,1066aa) |
g.15:86687050G>A,c.98G>A,p.R33Q |
AGBL1(NM_152336,ATP/GTP binding protein-like 1,1066aa) |
g.15:86687049C>T,c.97C>T,p.R33W |
AGAP9(NM_001190810,ArfGAP with GTPase domain, ankyrin repeat and PH domain 9,658aa) |
g.10:48235983G>A,c.750G>A,p.W250X |
AGAP9(NM_001190810,ArfGAP with GTPase domain, ankyrin repeat and PH domain 9,658aa) |
g.10:48235975A>G,c.742A>G,p.M248V |
AGAP9(NM_001190810,ArfGAP with GTPase domain, ankyrin repeat and PH domain 9,658aa) |
g.10:48235951C>A,c.718C>A,p.P240T |
AGAP9(NM_001190810,ArfGAP with GTPase domain, ankyrin repeat and PH domain 9,658aa) |
g.10:48235892C>T,c.659C>T,p.P220L |
AGAP8(NM_001276343,ArfGAP with GTPase domain, ankyrin repeat and PH domain 8,686aa) |
g.10:51225877G>A,c.1174C>T,p.P392S |
AGAP8(NM_001276343,ArfGAP with GTPase domain, ankyrin repeat and PH domain 8,686aa) |
g.10:51225724G>C,c.1327C>G,p.L443V |
AGAP8(NM_001276343,ArfGAP with GTPase domain, ankyrin repeat and PH domain 8,686aa) |
g.10:51225507C>T,c.1544G>A,p.R515H |
AGAP8(NM_001276343,ArfGAP with GTPase domain, ankyrin repeat and PH domain 8,686aa) |
g.10:51225375G>A,c.1676C>T,p.T559M |
AGAP8(NM_001276343,ArfGAP with GTPase domain, ankyrin repeat and PH domain 8,686aa) |
g.10:51225181C>T,c.1870G>A,p.G624S |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51472618A>G,c.362T>C,p.L121S |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465783T>C,c.673A>G,p.M225V |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465650C>T,c.806G>A,p.R269Q |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465552A>T,c.904T>A,p.Y302N |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465476A>G,c.980T>C,p.L327S |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465380G>C,c.1076C>G,p.S359C |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465366G>C,c.1090C>G,p.P364A |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465353G>A,c.1103C>T,p.P368L |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465138C>T,c.1318G>A,p.E440K |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51465131A>G,c.1325T>C,p.M442T |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51464993G>T,c.1463C>A,p.T488N |
AGAP7(NM_001077685,ArfGAP with GTPase domain, ankyrin repeat and PH domain 7,663aa) |
g.10:51464981C>T,c.1475G>A,p.R492H |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51769746G>T,c.1861G>T,p.E621X |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51769579G>A,c.1694G>A,p.R565Q |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51769405G>A,c.1520G>A,p.R507H |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51769057C>T,c.1172C>T,p.P391L |