Genename |
Variants |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51768964G>A,c.1079G>A,p.S360N |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51768675_51768676del,c.790_791del,p.264fs |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51768631G>A,c.746G>A,p.R249H |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51748684G>A,c.209G>A,p.R70Q |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51748659C>T,c.184C>T,p.L62F |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51748584A>G,c.109A>G,p.R37G |
AGAP6(NM_001077665,ArfGAP with GTPase domain, ankyrin repeat and PH domain 6,686aa) |
g.10:51748510G>A,c.35G>A,p.S12N |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75451811C>T,c.386G>A,p.C129Y |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75442543C>T,c.406G>A,p.E136K |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75442477G>C,c.472C>G,p.H158D |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75435673G>A,c.745C>T,p.R249C |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75435612G>A,c.806C>T,p.P269L |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75434641G>A,c.1777C>T,p.R593W |
AGAP5(NM_001144000,ArfGAP with GTPase domain, ankyrin repeat and PH domain 5,686aa) |
g.10:75434461G>A,c.1957C>T,p.R653X |
AGAP4(NM_133446,ArfGAP with GTPase domain, ankyrin repeat and PH domain 4,663aa) |
g.10:46322267C>A,c.1088G>T,p.S363I |
AGAP4(NM_133446,ArfGAP with GTPase domain, ankyrin repeat and PH domain 4,663aa) |
g.10:46321904C>T,c.1451G>A,p.R484H |
AGAP4(NM_133446,ArfGAP with GTPase domain, ankyrin repeat and PH domain 4,663aa) |
g.10:46321880C>T,c.1475G>A,p.R492H |
AGAP4(NM_133446,ArfGAP with GTPase domain, ankyrin repeat and PH domain 4,663aa) |
g.10:46321527G>A,c.1828C>T,p.R610C |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150841011G>A,c.2717G>A,p.R906H |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150840963C>T,c.2669C>T,p.P890L |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150840440A>T,c.2286A>T,p.E762D |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150837174G>A,c.1775G>A,p.R592Q |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150835349G>A,c.1615G>A,p.D539N |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150835325C>T,c.1591C>T,p.R531C |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150817104G>A,c.1000G>A,p.D334N |
AGAP3(NM_031946,ArfGAP with GTPase domain, ankyrin repeat and PH domain 3,911aa) |
g.7:150817078C>T,c.974C>T,p.T325M |
AGAP2(NM_001122772,ArfGAP with GTPase domain, ankyrin repeat and PH domain 2,1192aa) |
g.12:58131251G>T,c.779C>A,p.A260D |
AGAP2(NM_001122772,ArfGAP with GTPase domain, ankyrin repeat and PH domain 2,1192aa) |
g.12:58131119G>A,c.911C>T,p.A304V |