Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33435225G>ACA363682129SYNGAP1c.325G>A (p.Ala109Thr)
c.583G>A (p.Ala195Thr)
c.406G>A (p.Ala136Thr)
c.538G>A (p.Ala180Thr)
n.778G>A
6g.33435225G>CCA16044320SYNGAP1c.325G>C (p.Ala109Pro)
c.583G>C (p.Ala195Pro)
c.406G>C (p.Ala136Pro)
c.538G>C (p.Ala180Pro)
n.778G>C
 ClinVar dbSNP
6g.33435225G=CA1620011324SYNGAP1c.325G= (p.Ala109=)
c.583G= (p.Ala195=)
c.406G= (p.Ala136=)
c.538G= (p.Ala180=)
n.778G=
6g.33435225G>TCA363682131SYNGAP1c.325G>T (p.Ala109Ser)
c.583G>T (p.Ala195Ser)
c.406G>T (p.Ala136Ser)
c.538G>T (p.Ala180Ser)
n.778G>T
 gnomAD v4
6g.33435226C>ACA363682133SYNGAP1c.326C>A (p.Ala109Glu)
c.584C>A (p.Ala195Glu)
c.407C>A (p.Ala136Glu)
c.539C>A (p.Ala180Glu)
n.779C>A
6g.33435226C>GCA363682134SYNGAP1c.326C>G (p.Ala109Gly)
c.584C>G (p.Ala195Gly)
c.407C>G (p.Ala136Gly)
c.539C>G (p.Ala180Gly)
n.779C>G
6g.33435226C>TCA363682132SYNGAP1c.326C>T (p.Ala109Val)
c.584C>T (p.Ala195Val)
c.407C>T (p.Ala136Val)
c.539C>T (p.Ala180Val)
n.779C>T
6g.33435227A>CCA450106959SYNGAP1c.327A>C (p.Ala109=)
c.585A>C (p.Ala195=)
c.408A>C (p.Ala136=)
c.540A>C (p.Ala180=)
n.780A>C
6g.33435227A>GCA450106961SYNGAP1c.327A>G (p.Ala109=)
c.585A>G (p.Ala195=)
c.408A>G (p.Ala136=)
c.540A>G (p.Ala180=)
n.780A>G
 ClinVar dbSNP
6g.33435227A>TCA450106962SYNGAP1c.327A>T (p.Ala109=)
c.585A>T (p.Ala195=)
c.408A>T (p.Ala136=)
c.540A>T (p.Ala180=)
n.780A>T
6g.33435228T>ACA363682135SYNGAP1c.328T>A (p.Leu110Met)
c.586T>A (p.Leu196Met)
c.409T>A (p.Leu137Met)
c.541T>A (p.Leu181Met)
n.781T>A
6g.33435228T>CCA209814SYNGAP1c.328T>C (p.Leu110=)
c.586T>C (p.Leu196=)
c.409T>C (p.Leu137=)
c.541T>C (p.Leu181=)
n.781T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435228T>GCA363682136SYNGAP1c.328T>G (p.Leu110Val)
c.586T>G (p.Leu196Val)
c.409T>G (p.Leu137Val)
c.541T>G (p.Leu181Val)
n.781T>G
6g.33435228T=CA1620011325SYNGAP1c.328T= (p.Leu110=)
c.586T= (p.Leu196=)
c.409T= (p.Leu137=)
c.541T= (p.Leu181=)
n.781T=
6g.33435229T>ACA363682137SYNGAP1c.329T>A (p.Leu110Ter)
c.587T>A (p.Leu196Ter)
c.410T>A (p.Leu137Ter)
c.542T>A (p.Leu181Ter)
n.782T>A
 dbSNP
6g.33435229T>CCA363682138SYNGAP1c.329T>C (p.Leu110Ser)
c.587T>C (p.Leu196Ser)
c.410T>C (p.Leu137Ser)
c.542T>C (p.Leu181Ser)
n.782T>C
6g.33435229T>GCA363682139SYNGAP1c.329T>G (p.Leu110Trp)
c.587T>G (p.Leu196Trp)
c.410T>G (p.Leu137Trp)
c.542T>G (p.Leu181Trp)
n.782T>G
6g.33435229T=CA1620011326SYNGAP1c.329T= (p.Leu110=)
c.587T= (p.Leu196=)
c.410T= (p.Leu137=)
c.542T= (p.Leu181=)
n.782T=
6g.33435230G>ACA3758530SYNGAP1c.330G>A (p.Leu110=)
c.588G>A (p.Leu196=)
c.411G>A (p.Leu137=)
c.543G>A (p.Leu181=)
n.783G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435230G>CCA363682140SYNGAP1c.330G>C (p.Leu110Phe)
c.588G>C (p.Leu196Phe)
c.411G>C (p.Leu137Phe)
c.543G>C (p.Leu181Phe)
n.783G>C
6g.33435230G=CA1620011327SYNGAP1c.330G= (p.Leu110=)
c.588G= (p.Leu196=)
c.411G= (p.Leu137=)
c.543G= (p.Leu181=)
n.783G=
6g.33435230G>TCA363682141SYNGAP1c.330G>T (p.Leu110Phe)
c.588G>T (p.Leu196Phe)
c.411G>T (p.Leu137Phe)
c.543G>T (p.Leu181Phe)
n.783G>T
6g.33435231G>ACA363682142SYNGAP1c.331G>A (p.Glu111Lys)
c.589G>A (p.Glu197Lys)
c.412G>A (p.Glu138Lys)
c.544G>A (p.Glu182Lys)
n.784G>A
6g.33435231G>CCA363682143SYNGAP1c.331G>C (p.Glu111Gln)
c.589G>C (p.Glu197Gln)
c.412G>C (p.Glu138Gln)
c.544G>C (p.Glu182Gln)
n.784G>C
6g.33435231G=CA1620011328SYNGAP1c.331G= (p.Glu111=)
c.589G= (p.Glu197=)
c.412G= (p.Glu138=)
c.544G= (p.Glu182=)
n.784G=
6g.33435231G>TCA363682144SYNGAP1c.331G>T (p.Glu111Ter)
c.589G>T (p.Glu197Ter)
c.412G>T (p.Glu138Ter)
c.544G>T (p.Glu182Ter)
n.784G>T
 dbSNP
6g.33435232A>CCA363682145SYNGAP1c.332A>C (p.Glu111Ala)
c.590A>C (p.Glu197Ala)
c.413A>C (p.Glu138Ala)
c.545A>C (p.Glu182Ala)
n.785A>C
6g.33435232A>GCA363682146SYNGAP1c.332A>G (p.Glu111Gly)
c.590A>G (p.Glu197Gly)
c.413A>G (p.Glu138Gly)
c.545A>G (p.Glu182Gly)
n.785A>G
6g.33435232A>TCA363682147SYNGAP1c.332A>T (p.Glu111Val)
c.590A>T (p.Glu197Val)
c.413A>T (p.Glu138Val)
c.545A>T (p.Glu182Val)
n.785A>T
6g.33435233G>ACA450106966SYNGAP1c.333G>A (p.Glu111=)
c.591G>A (p.Glu197=)
c.414G>A (p.Glu138=)
c.546G>A (p.Glu182=)
n.786G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33435233G>CCA363682149SYNGAP1c.333G>C (p.Glu111Asp)
c.591G>C (p.Glu197Asp)
c.414G>C (p.Glu138Asp)
c.546G>C (p.Glu182Asp)
n.786G>C
6g.33435233G=CA1620011329SYNGAP1c.333G= (p.Glu111=)
c.591G= (p.Glu197=)
c.414G= (p.Glu138=)
c.546G= (p.Glu182=)
n.786G=
6g.33435233G>TCA363682148SYNGAP1c.333G>T (p.Glu111Asp)
c.591G>T (p.Glu197Asp)
c.414G>T (p.Glu138Asp)
c.546G>T (p.Glu182Asp)
n.786G>T
6g.33435234C>ACA363682150SYNGAP1c.334C>A (p.Leu112Ile)
c.592C>A (p.Leu198Ile)
c.415C>A (p.Leu139Ile)
c.547C>A (p.Leu183Ile)
n.787C>A
6g.33435234C>GCA363682152SYNGAP1c.334C>G (p.Leu112Val)
c.592C>G (p.Leu198Val)
c.415C>G (p.Leu139Val)
c.547C>G (p.Leu183Val)
n.787C>G
6g.33435234C>TCA363682151SYNGAP1c.334C>T (p.Leu112Phe)
c.592C>T (p.Leu198Phe)
c.415C>T (p.Leu139Phe)
c.547C>T (p.Leu183Phe)
n.787C>T
6g.33435235T>ACA363682153SYNGAP1c.335T>A (p.Leu112His)
c.593T>A (p.Leu198His)
c.416T>A (p.Leu139His)
c.548T>A (p.Leu183His)
n.788T>A
6g.33435235T>CCA363682155SYNGAP1c.335T>C (p.Leu112Pro)
c.593T>C (p.Leu198Pro)
c.416T>C (p.Leu139Pro)
c.548T>C (p.Leu183Pro)
n.788T>C
6g.33435235T>GCA363682154SYNGAP1c.335T>G (p.Leu112Arg)
c.593T>G (p.Leu198Arg)
c.416T>G (p.Leu139Arg)
c.548T>G (p.Leu183Arg)
n.788T>G
6g.33435236C>ACA450106968SYNGAP1c.336C>A (p.Leu112=)
c.594C>A (p.Leu198=)
c.417C>A (p.Leu139=)
c.549C>A (p.Leu183=)
n.789C>A
6g.33435236C=CA1620011330SYNGAP1c.336C= (p.Leu112=)
c.594C= (p.Leu198=)
c.417C= (p.Leu139=)
c.549C= (p.Leu183=)
n.789C=
6g.33435236C>GCA450106970SYNGAP1c.336C>G (p.Leu112=)
c.594C>G (p.Leu198=)
c.417C>G (p.Leu139=)
c.549C>G (p.Leu183=)
n.789C>G
6g.33435236C>TCA450106969SYNGAP1c.336C>T (p.Leu112=)
c.594C>T (p.Leu198=)
c.417C>T (p.Leu139=)
c.549C>T (p.Leu183=)
n.789C>T
 dbSNP gnomAD v4
6g.33435237A>CCA363682156SYNGAP1c.337A>C (p.Asn113His)
c.595A>C (p.Asn199His)
c.418A>C (p.Asn140His)
c.550A>C (p.Asn184His)
n.790A>C
6g.33435237A>GCA363682158SYNGAP1c.337A>G (p.Asn113Asp)
c.595A>G (p.Asn199Asp)
c.418A>G (p.Asn140Asp)
c.550A>G (p.Asn184Asp)
n.790A>G
6g.33435237A>TCA363682157SYNGAP1c.337A>T (p.Asn113Tyr)
c.595A>T (p.Asn199Tyr)
c.418A>T (p.Asn140Tyr)
c.550A>T (p.Asn184Tyr)
n.790A>T
6g.33435238A>CCA363682159SYNGAP1c.338A>C (p.Asn113Thr)
c.596A>C (p.Asn199Thr)
c.419A>C (p.Asn140Thr)
c.551A>C (p.Asn184Thr)
n.791A>C
6g.33435238A>GCA363682160SYNGAP1c.338A>G (p.Asn113Ser)
c.596A>G (p.Asn199Ser)
c.419A>G (p.Asn140Ser)
c.551A>G (p.Asn184Ser)
n.791A>G
6g.33435238A>TCA363682161SYNGAP1c.338A>T (p.Asn113Ile)
c.596A>T (p.Asn199Ile)
c.419A>T (p.Asn140Ile)
c.551A>T (p.Asn184Ile)
n.791A>T
6g.33435239C>ACA363682162SYNGAP1c.339C>A (p.Asn113Lys)
c.597C>A (p.Asn199Lys)
c.420C>A (p.Asn140Lys)
c.552C>A (p.Asn184Lys)
n.792C>A
 ClinVar
6g.33435239C>GCA363682163SYNGAP1c.339C>G (p.Asn113Lys)
c.597C>G (p.Asn199Lys)
c.420C>G (p.Asn140Lys)
c.552C>G (p.Asn184Lys)
n.792C>G
6g.33435239C>TCA450106971SYNGAP1c.339C>T (p.Asn113=)
c.597C>T (p.Asn199=)
c.420C>T (p.Asn140=)
c.552C>T (p.Asn184=)
n.792C>T
6g.33435240T>ACA363682164SYNGAP1c.340T>A (p.Leu114Met)
c.598T>A (p.Leu200Met)
c.421T>A (p.Leu141Met)
c.553T>A (p.Leu185Met)
n.793T>A
6g.33435240T>CCA450106972SYNGAP1c.340T>C (p.Leu114=)
c.598T>C (p.Leu200=)
c.421T>C (p.Leu141=)
c.553T>C (p.Leu185=)
n.793T>C
 dbSNP gnomAD v3 gnomAD v4
6g.33435240T>GCA363682165SYNGAP1c.340T>G (p.Leu114Val)
c.598T>G (p.Leu200Val)
c.421T>G (p.Leu141Val)
c.553T>G (p.Leu185Val)
n.793T>G
6g.33435240T=CA1620011331SYNGAP1c.340T= (p.Leu114=)
c.598T= (p.Leu200=)
c.421T= (p.Leu141=)
c.553T= (p.Leu185=)
n.793T=
6g.33435241T>ACA363682166SYNGAP1c.341T>A (p.Leu114Ter)
c.599T>A (p.Leu200Ter)
c.422T>A (p.Leu141Ter)
c.554T>A (p.Leu185Ter)
n.794T>A
 dbSNP
6g.33435241T>CCA363682167SYNGAP1c.341T>C (p.Leu114Ser)
c.599T>C (p.Leu200Ser)
c.422T>C (p.Leu141Ser)
c.554T>C (p.Leu185Ser)
n.794T>C
6g.33435241T>GCA363682168SYNGAP1c.341T>G (p.Leu114Trp)
c.599T>G (p.Leu200Trp)
c.422T>G (p.Leu141Trp)
c.554T>G (p.Leu185Trp)
n.794T>G
6g.33435241T=CA1620011332SYNGAP1c.341T= (p.Leu114=)
c.599T= (p.Leu200=)
c.422T= (p.Leu141=)
c.554T= (p.Leu185=)
n.794T=
6g.33435242G>ACA450106973SYNGAP1c.342G>A (p.Leu114=)
c.600G>A (p.Leu200=)
c.423G>A (p.Leu141=)
c.555G>A (p.Leu185=)
n.795G>A
6g.33435242G>CCA363682169SYNGAP1c.342G>C (p.Leu114Phe)
c.600G>C (p.Leu200Phe)
c.423G>C (p.Leu141Phe)
c.555G>C (p.Leu185Phe)
n.795G>C
 ClinVar dbSNP gnomAD v4
6g.33435242G=CA1620011333SYNGAP1c.342G= (p.Leu114=)
c.600G= (p.Leu200=)
c.423G= (p.Leu141=)
c.555G= (p.Leu185=)
n.795G=
6g.33435242G>TCA363682170SYNGAP1c.342G>T (p.Leu114Phe)
c.600G>T (p.Leu200Phe)
c.423G>T (p.Leu141Phe)
c.555G>T (p.Leu185Phe)
n.795G>T
6g.33435243G>ACA363682173SYNGAP1c.343G>A (p.Asp115Asn)
c.601G>A (p.Asp201Asn)
c.424G>A (p.Asp142Asn)
c.556G>A (p.Asp186Asn)
n.796G>A
6g.33435243G>CCA363682171SYNGAP1c.343G>C (p.Asp115His)
c.601G>C (p.Asp201His)
c.424G>C (p.Asp142His)
c.556G>C (p.Asp186His)
n.796G>C
6g.33435243G>TCA363682172SYNGAP1c.343G>T (p.Asp115Tyr)
c.601G>T (p.Asp201Tyr)
c.424G>T (p.Asp142Tyr)
c.556G>T (p.Asp186Tyr)
n.796G>T
6g.33435244A>CCA363682174SYNGAP1c.344A>C (p.Asp115Ala)
c.602A>C (p.Asp201Ala)
c.425A>C (p.Asp142Ala)
c.557A>C (p.Asp186Ala)
n.797A>C
6g.33435244A>GCA363682175SYNGAP1c.344A>G (p.Asp115Gly)
c.602A>G (p.Asp201Gly)
c.425A>G (p.Asp142Gly)
c.557A>G (p.Asp186Gly)
n.797A>G
6g.33435244A>TCA363682176SYNGAP1c.344A>T (p.Asp115Val)
c.602A>T (p.Asp201Val)
c.425A>T (p.Asp142Val)
c.557A>T (p.Asp186Val)
n.797A>T
6g.33435245T>ACA363682177SYNGAP1c.345T>A (p.Asp115Glu)
c.603T>A (p.Asp201Glu)
c.426T>A (p.Asp142Glu)
c.558T>A (p.Asp186Glu)
n.798T>A
 ClinVar
6g.33435245T>CCA450106976SYNGAP1c.345T>C (p.Asp115=)
c.603T>C (p.Asp201=)
c.426T>C (p.Asp142=)
c.558T>C (p.Asp186=)
n.798T>C
6g.33435245T>GCA3758531SYNGAP1c.345T>G (p.Asp115Glu)
c.603T>G (p.Asp201Glu)
c.426T>G (p.Asp142Glu)
c.558T>G (p.Asp186Glu)
n.798T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435245T=CA1620011334SYNGAP1c.345T= (p.Asp115=)
c.603T= (p.Asp201=)
c.426T= (p.Asp142=)
c.558T= (p.Asp186=)
n.798T=
6g.33435246delCA2580074400SYNGAP1c.346del (p.Glu116LysfsTer21)
c.604del (p.Glu202LysfsTer21)
c.427del (p.Glu143LysfsTer21)
c.559del (p.Glu187LysfsTer21)
n.799del
 ClinVar
6g.33435246G>ACA363682178SYNGAP1c.346G>A (p.Glu116Lys)
c.604G>A (p.Glu202Lys)
c.427G>A (p.Glu143Lys)
c.559G>A (p.Glu187Lys)
n.799G>A
6g.33435246G>CCA363682179SYNGAP1c.346G>C (p.Glu116Gln)
c.604G>C (p.Glu202Gln)
c.427G>C (p.Glu143Gln)
c.559G>C (p.Glu187Gln)
n.799G>C
6g.33435246G=CA1620011335SYNGAP1c.346G= (p.Glu116=)
c.604G= (p.Glu202=)
c.427G= (p.Glu143=)
c.559G= (p.Glu187=)
n.799G=
6g.33435246G>TCA363682180SYNGAP1c.346G>T (p.Glu116Ter)
c.604G>T (p.Glu202Ter)
c.427G>T (p.Glu143Ter)
c.559G>T (p.Glu187Ter)
n.799G>T
 dbSNP
6g.33435247A>CCA363682181SYNGAP1c.347A>C (p.Glu116Ala)
c.605A>C (p.Glu202Ala)
c.428A>C (p.Glu143Ala)
c.560A>C (p.Glu187Ala)
n.800A>C
6g.33435247A>GCA363682182SYNGAP1c.347A>G (p.Glu116Gly)
c.605A>G (p.Glu202Gly)
c.428A>G (p.Glu143Gly)
c.560A>G (p.Glu187Gly)
n.800A>G
6g.33435247A>TCA363682183SYNGAP1c.347A>T (p.Glu116Val)
c.605A>T (p.Glu202Val)
c.428A>T (p.Glu143Val)
c.560A>T (p.Glu187Val)
n.800A>T
6g.33435248A>CCA363682184SYNGAP1c.348A>C (p.Glu116Asp)
c.606A>C (p.Glu202Asp)
c.429A>C (p.Glu143Asp)
c.561A>C (p.Glu187Asp)
n.801A>C
6g.33435248A>GCA450106978SYNGAP1c.348A>G (p.Glu116=)
c.606A>G (p.Glu202=)
c.429A>G (p.Glu143=)
c.561A>G (p.Glu187=)
n.801A>G
6g.33435248A>TCA363682185SYNGAP1c.348A>T (p.Glu116Asp)
c.606A>T (p.Glu202Asp)
c.429A>T (p.Glu143Asp)
c.561A>T (p.Glu187Asp)
n.801A>T
6g.33435249G>ACA363682186SYNGAP1c.349G>A (p.Asp117Asn)
c.607G>A (p.Asp203Asn)
c.430G>A (p.Asp144Asn)
c.562G>A (p.Asp188Asn)
n.802G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33435249G>CCA363682187SYNGAP1c.349G>C (p.Asp117His)
c.607G>C (p.Asp203His)
c.430G>C (p.Asp144His)
c.562G>C (p.Asp188His)
n.802G>C
6g.33435249G=CA1620011336SYNGAP1c.349G= (p.Asp117=)
c.607G= (p.Asp203=)
c.430G= (p.Asp144=)
c.562G= (p.Asp188=)
n.802G=
6g.33435249G>TCA363682188SYNGAP1c.349G>T (p.Asp117Tyr)
c.607G>T (p.Asp203Tyr)
c.430G>T (p.Asp144Tyr)
c.562G>T (p.Asp188Tyr)
n.802G>T
6g.33435250A>CCA363682189SYNGAP1c.350A>C (p.Asp117Ala)
c.608A>C (p.Asp203Ala)
c.431A>C (p.Asp144Ala)
c.563A>C (p.Asp188Ala)
n.803A>C
6g.33435250A>GCA363682190SYNGAP1c.350A>G (p.Asp117Gly)
c.608A>G (p.Asp203Gly)
c.431A>G (p.Asp144Gly)
c.563A>G (p.Asp188Gly)
n.803A>G
6g.33435250A>TCA363682191SYNGAP1c.350A>T (p.Asp117Val)
c.608A>T (p.Asp203Val)
c.431A>T (p.Asp144Val)
c.563A>T (p.Asp188Val)
n.803A>T
6g.33435251T>ACA363682192SYNGAP1c.351T>A (p.Asp117Glu)
c.609T>A (p.Asp203Glu)
c.432T>A (p.Asp144Glu)
c.564T>A (p.Asp188Glu)
n.804T>A
6g.33435251T>CCA450106981SYNGAP1c.351T>C (p.Asp117=)
c.609T>C (p.Asp203=)
c.432T>C (p.Asp144=)
c.564T>C (p.Asp188=)
n.804T>C
6g.33435251T>GCA363682193SYNGAP1c.351T>G (p.Asp117Glu)
c.609T>G (p.Asp203Glu)
c.432T>G (p.Asp144Glu)
c.564T>G (p.Asp188Glu)
n.804T>G
6g.33435252T>ACA363682194SYNGAP1c.352T>A (p.Ser118Thr)
c.610T>A (p.Ser204Thr)
c.433T>A (p.Ser145Thr)
c.565T>A (p.Ser189Thr)
n.805T>A
6g.33435252T>CCA363682195SYNGAP1c.352T>C (p.Ser118Pro)
c.610T>C (p.Ser204Pro)
c.433T>C (p.Ser145Pro)
c.565T>C (p.Ser189Pro)
n.805T>C
6g.33435252T>GCA363682196SYNGAP1c.352T>G (p.Ser118Ala)
c.610T>G (p.Ser204Ala)
c.433T>G (p.Ser145Ala)
c.565T>G (p.Ser189Ala)
n.805T>G
6g.33435253C>ACA363682199SYNGAP1c.353C>A (p.Ser118Tyr)
c.611C>A (p.Ser204Tyr)
c.434C>A (p.Ser145Tyr)
c.566C>A (p.Ser189Tyr)
n.806C>A
6g.33435253C>GCA363682198SYNGAP1c.353C>G (p.Ser118Cys)
c.611C>G (p.Ser204Cys)
c.434C>G (p.Ser145Cys)
c.566C>G (p.Ser189Cys)
n.806C>G
 ClinVar dbSNP
6g.33435253C>TCA363682197SYNGAP1c.353C>T (p.Ser118Phe)
c.611C>T (p.Ser204Phe)
c.434C>T (p.Ser145Phe)
c.566C>T (p.Ser189Phe)
n.806C>T
 COSMIC COSMIC
6g.33435254C>ACA450106985SYNGAP1c.354C>A (p.Ser118=)
c.612C>A (p.Ser204=)
c.435C>A (p.Ser145=)
c.567C>A (p.Ser189=)
n.807C>A
6g.33435254C>GCA450106986SYNGAP1c.354C>G (p.Ser118=)
c.612C>G (p.Ser204=)
c.435C>G (p.Ser145=)
c.567C>G (p.Ser189=)
n.807C>G
6g.33435254C>TCA450106988SYNGAP1c.354C>T (p.Ser118=)
c.612C>T (p.Ser204=)
c.435C>T (p.Ser145=)
c.567C>T (p.Ser189=)
n.807C>T
6g.33435255A>CCA363682200SYNGAP1c.355A>C (p.Ile119Leu)
c.613A>C (p.Ile205Leu)
c.436A>C (p.Ile146Leu)
c.568A>C (p.Ile190Leu)
n.808A>C
6g.33435255A>GCA363682201SYNGAP1c.355A>G (p.Ile119Val)
c.613A>G (p.Ile205Val)
c.436A>G (p.Ile146Val)
c.568A>G (p.Ile190Val)
n.808A>G
6g.33435255A>TCA363682202SYNGAP1c.355A>T (p.Ile119Phe)
c.613A>T (p.Ile205Phe)
c.436A>T (p.Ile146Phe)
c.568A>T (p.Ile190Phe)
n.808A>T
6g.33435256T>ACA363682203SYNGAP1c.356T>A (p.Ile119Asn)
c.614T>A (p.Ile205Asn)
c.437T>A (p.Ile146Asn)
c.569T>A (p.Ile190Asn)
n.809T>A
6g.33435256T>CCA363682204SYNGAP1c.356T>C (p.Ile119Thr)
c.614T>C (p.Ile205Thr)
c.437T>C (p.Ile146Thr)
c.569T>C (p.Ile190Thr)
n.809T>C
6g.33435256T>GCA363682205SYNGAP1c.356T>G (p.Ile119Ser)
c.614T>G (p.Ile205Ser)
c.437T>G (p.Ile146Ser)
c.569T>G (p.Ile190Ser)
n.809T>G
6g.33435257T>ACA450106990SYNGAP1c.357T>A (p.Ile119=)
c.615T>A (p.Ile205=)
c.438T>A (p.Ile146=)
c.570T>A (p.Ile190=)
n.810T>A
6g.33435257T>CCA450106991SYNGAP1c.357T>C (p.Ile119=)
c.615T>C (p.Ile205=)
c.438T>C (p.Ile146=)
c.570T>C (p.Ile190=)
n.810T>C
 gnomAD v4
6g.33435257T>GCA363682206SYNGAP1c.357T>G (p.Ile119Met)
c.615T>G (p.Ile205Met)
c.438T>G (p.Ile146Met)
c.570T>G (p.Ile190Met)
n.810T>G
6g.33435258A>CCA363682207SYNGAP1c.358A>C (p.Ile120Leu)
c.616A>C (p.Ile206Leu)
c.439A>C (p.Ile147Leu)
c.571A>C (p.Ile191Leu)
n.811A>C
6g.33435258A>GCA363682208SYNGAP1c.358A>G (p.Ile120Val)
c.616A>G (p.Ile206Val)
c.439A>G (p.Ile147Val)
c.571A>G (p.Ile191Val)
n.811A>G
6g.33435258A>TCA363682209SYNGAP1c.358A>T (p.Ile120Phe)
c.616A>T (p.Ile206Phe)
c.439A>T (p.Ile147Phe)
c.571A>T (p.Ile191Phe)
n.811A>T
6g.33435259T>ACA363682210SYNGAP1c.359T>A (p.Ile120Asn)
c.617T>A (p.Ile206Asn)
c.440T>A (p.Ile147Asn)
c.572T>A (p.Ile191Asn)
n.812T>A
6g.33435259T>CCA363682211SYNGAP1c.359T>C (p.Ile120Thr)
c.617T>C (p.Ile206Thr)
c.440T>C (p.Ile147Thr)
c.572T>C (p.Ile191Thr)
n.812T>C
 COSMIC COSMIC
6g.33435259T>GCA363682212SYNGAP1c.359T>G (p.Ile120Ser)
c.617T>G (p.Ile206Ser)
c.440T>G (p.Ile147Ser)
c.572T>G (p.Ile191Ser)
n.812T>G
6g.33435260C>ACA450106995SYNGAP1c.360C>A (p.Ile120=)
c.618C>A (p.Ile206=)
c.441C>A (p.Ile147=)
c.573C>A (p.Ile191=)
n.813C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33435260C=CA1620011337SYNGAP1c.360C= (p.Ile120=)
c.618C= (p.Ile206=)
c.441C= (p.Ile147=)
c.573C= (p.Ile191=)
n.813C=
6g.33435260C>GCA363682213SYNGAP1c.360C>G (p.Ile120Met)
c.618C>G (p.Ile206Met)
c.441C>G (p.Ile147Met)
c.573C>G (p.Ile191Met)
n.813C>G
6g.33435260C>TCA450106996SYNGAP1c.360C>T (p.Ile120=)
c.618C>T (p.Ile206=)
c.441C>T (p.Ile147=)
c.573C>T (p.Ile191=)
n.813C>T
 gnomAD v4
6g.33435261A=CA1620011338SYNGAP1c.361A= (p.Lys121=)
c.619A= (p.Lys207=)
c.442A= (p.Lys148=)
c.574A= (p.Lys192=)
n.814A=
6g.33435261A>CCA363682216SYNGAP1c.361A>C (p.Lys121Gln)
c.619A>C (p.Lys207Gln)
c.442A>C (p.Lys148Gln)
c.574A>C (p.Lys192Gln)
n.814A>C
6g.33435261A>GCA363682214SYNGAP1c.361A>G (p.Lys121Glu)
c.619A>G (p.Lys207Glu)
c.442A>G (p.Lys148Glu)
c.574A>G (p.Lys192Glu)
n.814A>G
6g.33435261A>TCA363682215SYNGAP1c.361A>T (p.Lys121Ter)
c.619A>T (p.Lys207Ter)
c.442A>T (p.Lys148Ter)
c.574A>T (p.Lys192Ter)
n.814A>T
 dbSNP
6g.33435262A>CCA363682217SYNGAP1c.362A>C (p.Lys121Thr)
c.620A>C (p.Lys207Thr)
c.443A>C (p.Lys148Thr)
c.575A>C (p.Lys192Thr)
n.815A>C
6g.33435262A>GCA363682218SYNGAP1c.362A>G (p.Lys121Arg)
c.620A>G (p.Lys207Arg)
c.443A>G (p.Lys148Arg)
c.575A>G (p.Lys192Arg)
n.815A>G
6g.33435262A>TCA363682219SYNGAP1c.362A>T (p.Lys121Met)
c.620A>T (p.Lys207Met)
c.443A>T (p.Lys148Met)
c.575A>T (p.Lys192Met)
n.815A>T
6g.33435263G>ACA450106997SYNGAP1c.363G>A (p.Lys121=)
c.621G>A (p.Lys207=)
c.444G>A (p.Lys148=)
c.576G>A (p.Lys192=)
n.816G>A
6g.33435263G>CCA363682220SYNGAP1c.363G>C (p.Lys121Asn)
c.621G>C (p.Lys207Asn)
c.444G>C (p.Lys148Asn)
c.576G>C (p.Lys192Asn)
n.816G>C
6g.33435263G>TCA363682221SYNGAP1c.363G>T (p.Lys121Asn)
c.621G>T (p.Lys207Asn)
c.444G>T (p.Lys148Asn)
c.576G>T (p.Lys192Asn)
n.816G>T
6g.33435264C>ACA363682222SYNGAP1c.364C>A (p.Pro122Thr)
c.622C>A (p.Pro208Thr)
c.445C>A (p.Pro149Thr)
c.577C>A (p.Pro193Thr)
n.817C>A
6g.33435264C>GCA363682223SYNGAP1c.364C>G (p.Pro122Ala)
c.622C>G (p.Pro208Ala)
c.445C>G (p.Pro149Ala)
c.577C>G (p.Pro193Ala)
n.817C>G
6g.33435264C>TCA363682224SYNGAP1c.364C>T (p.Pro122Ser)
c.622C>T (p.Pro208Ser)
c.445C>T (p.Pro149Ser)
c.577C>T (p.Pro193Ser)
n.817C>T
6g.33435265delCA2695202900SYNGAP1c.365del (p.Pro122GlnfsTer15)
c.623del (p.Pro208GlnfsTer15)
c.446del (p.Pro149GlnfsTer15)
c.578del (p.Pro193GlnfsTer15)
n.818del
6g.33435265C>ACA363682225SYNGAP1c.365C>A (p.Pro122Gln)
c.623C>A (p.Pro208Gln)
c.446C>A (p.Pro149Gln)
c.578C>A (p.Pro193Gln)
n.818C>A
6g.33435265C>GCA363682226SYNGAP1c.365C>G (p.Pro122Arg)
c.623C>G (p.Pro208Arg)
c.446C>G (p.Pro149Arg)
c.578C>G (p.Pro193Arg)
n.818C>G
6g.33435265C>TCA363682227SYNGAP1c.365C>T (p.Pro122Leu)
c.623C>T (p.Pro208Leu)
c.446C>T (p.Pro149Leu)
c.578C>T (p.Pro193Leu)
n.818C>T
 gnomAD v4
6g.33435266A>CCA450106998SYNGAP1c.366A>C (p.Pro122=)
c.624A>C (p.Pro208=)
c.447A>C (p.Pro149=)
c.579A>C (p.Pro193=)
n.819A>C
6g.33435266A>GCA450107000SYNGAP1c.366A>G (p.Pro122=)
c.624A>G (p.Pro208=)
c.447A>G (p.Pro149=)
c.579A>G (p.Pro193=)
n.819A>G
6g.33435266A>TCA450106999SYNGAP1c.366A>T (p.Pro122=)
c.624A>T (p.Pro208=)
c.447A>T (p.Pro149=)
c.579A>T (p.Pro193=)
n.819A>T
6g.33435267G>ACA363682230SYNGAP1c.367G>A (p.Val123Met)
c.625G>A (p.Val209Met)
c.448G>A (p.Val150Met)
c.580G>A (p.Val194Met)
n.820G>A
6g.33435267G>CCA363682229SYNGAP1c.367G>C (p.Val123Leu)
c.625G>C (p.Val209Leu)
c.448G>C (p.Val150Leu)
c.580G>C (p.Val194Leu)
n.820G>C
6g.33435267G>TCA363682228SYNGAP1c.367G>T (p.Val123Leu)
c.625G>T (p.Val209Leu)
c.448G>T (p.Val150Leu)
c.580G>T (p.Val194Leu)
n.820G>T
6g.33435268T>ACA363682231SYNGAP1c.368T>A (p.Val123Glu)
c.626T>A (p.Val209Glu)
c.449T>A (p.Val150Glu)
c.581T>A (p.Val194Glu)
n.821T>A
6g.33435268T>CCA363682232SYNGAP1c.368T>C (p.Val123Ala)
c.626T>C (p.Val209Ala)
c.449T>C (p.Val150Ala)
c.581T>C (p.Val194Ala)
n.821T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33435268T>GCA363682233SYNGAP1c.368T>G (p.Val123Gly)
c.626T>G (p.Val209Gly)
c.449T>G (p.Val150Gly)
c.581T>G (p.Val194Gly)
n.821T>G
6g.33435268T=CA1620011339SYNGAP1c.368T= (p.Val123=)
c.626T= (p.Val209=)
c.449T= (p.Val150=)
c.581T= (p.Val194=)
n.821T=
6g.33435269G>ACA137097642SYNGAP1c.369G>A (p.Val123=)
c.627G>A (p.Val209=)
c.450G>A (p.Val150=)
c.582G>A (p.Val194=)
n.822G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33435269G>CCA450107001SYNGAP1c.369G>C (p.Val123=)
c.627G>C (p.Val209=)
c.450G>C (p.Val150=)
c.582G>C (p.Val194=)
n.822G>C
6g.33435269G=CA1620011340SYNGAP1c.369G= (p.Val123=)
c.627G= (p.Val209=)
c.450G= (p.Val150=)
c.582G= (p.Val194=)
n.822G=
6g.33435269G>TCA450107002SYNGAP1c.369G>T (p.Val123=)
c.627G>T (p.Val209=)
c.450G>T (p.Val150=)
c.582G>T (p.Val194=)
n.822G>T
6g.33435270C>ACA363682234SYNGAP1c.370C>A (p.His124Asn)
c.628C>A (p.His210Asn)
c.451C>A (p.His151Asn)
c.583C>A (p.His195Asn)
n.823C>A
6g.33435270C>GCA363682235SYNGAP1c.370C>G (p.His124Asp)
c.628C>G (p.His210Asp)
c.451C>G (p.His151Asp)
c.583C>G (p.His195Asp)
n.823C>G
6g.33435270C>TCA363682236SYNGAP1c.370C>T (p.His124Tyr)
c.628C>T (p.His210Tyr)
c.451C>T (p.His151Tyr)
c.583C>T (p.His195Tyr)
n.823C>T
6g.33435270_33435273dupCA658796756SYNGAP1c.370_373dup (p.Ser125ThrfsTer12)
c.628_631dup (p.Ser211ThrfsTer12)
c.451_454dup (p.Ser152ThrfsTer12)
c.583_586dup (p.Ser196ThrfsTer12)
n.823_826dup
 ClinVar dbSNP
6g.33435271A>CCA363682237SYNGAP1c.371A>C (p.His124Pro)
c.629A>C (p.His210Pro)
c.452A>C (p.His151Pro)
c.584A>C (p.His195Pro)
n.824A>C
6g.33435271A>GCA363682238SYNGAP1c.371A>G (p.His124Arg)
c.629A>G (p.His210Arg)
c.452A>G (p.His151Arg)
c.584A>G (p.His195Arg)
n.824A>G
6g.33435271A>TCA363682239SYNGAP1c.371A>T (p.His124Leu)
c.629A>T (p.His210Leu)
c.452A>T (p.His151Leu)
c.584A>T (p.His195Leu)
n.824A>T
6g.33435271_33435274dupCA2580074401SYNGAP1c.371_374dup (p.Ser125ArgfsTer12)
c.629_632dup (p.Ser211ArgfsTer12)
c.452_455dup (p.Ser152ArgfsTer12)
c.584_587dup (p.Ser196ArgfsTer12)
n.824_827dup
 ClinVar
6g.33435272C>ACA363682240SYNGAP1c.372C>A (p.His124Gln)
c.630C>A (p.His210Gln)
c.453C>A (p.His151Gln)
c.585C>A (p.His195Gln)
n.825C>A
6g.33435272C>GCA363682241SYNGAP1c.372C>G (p.His124Gln)
c.630C>G (p.His210Gln)
c.453C>G (p.His151Gln)
c.585C>G (p.His195Gln)
n.825C>G
6g.33435272C>TCA450107003SYNGAP1c.372C>T (p.His124=)
c.630C>T (p.His210=)
c.453C>T (p.His151=)
c.585C>T (p.His195=)
n.825C>T
 ClinVar dbSNP
6g.33435273A>CCA363682242SYNGAP1c.373A>C (p.Ser125Arg)
c.631A>C (p.Ser211Arg)
c.454A>C (p.Ser152Arg)
c.586A>C (p.Ser196Arg)
n.826A>C
6g.33435273A>GCA363682243SYNGAP1c.373A>G (p.Ser125Gly)
c.631A>G (p.Ser211Gly)
c.454A>G (p.Ser152Gly)
c.586A>G (p.Ser196Gly)
n.826A>G
6g.33435273A>TCA363682244SYNGAP1c.373A>T (p.Ser125Cys)
c.631A>T (p.Ser211Cys)
c.454A>T (p.Ser152Cys)
c.586A>T (p.Ser196Cys)
n.826A>T
6g.33435274G>ACA363682246SYNGAP1c.374G>A (p.Ser125Asn)
c.632G>A (p.Ser211Asn)
c.455G>A (p.Ser152Asn)
c.587G>A (p.Ser196Asn)
n.827G>A
6g.33435274G>CCA363682247SYNGAP1c.374G>C (p.Ser125Thr)
c.632G>C (p.Ser211Thr)
c.455G>C (p.Ser152Thr)
c.587G>C (p.Ser196Thr)
n.827G>C
6g.33435274G>TCA363682245SYNGAP1c.374G>T (p.Ser125Ile)
c.632G>T (p.Ser211Ile)
c.455G>T (p.Ser152Ile)
c.587G>T (p.Ser196Ile)
n.827G>T
6g.33435275C>ACA363682248SYNGAP1c.375C>A (p.Ser125Arg)
c.633C>A (p.Ser211Arg)
c.456C>A (p.Ser152Arg)
c.588C>A (p.Ser196Arg)
n.828C>A
6g.33435275C>GCA363682249SYNGAP1c.375C>G (p.Ser125Arg)
c.633C>G (p.Ser211Arg)
c.456C>G (p.Ser152Arg)
c.588C>G (p.Ser196Arg)
n.828C>G
6g.33435275C>TCA450107004SYNGAP1c.375C>T (p.Ser125=)
c.633C>T (p.Ser211=)
c.456C>T (p.Ser152=)
c.588C>T (p.Ser196=)
n.828C>T
6g.33435276T>ACA363682250SYNGAP1c.376T>A (p.Ser126Thr)
c.634T>A (p.Ser212Thr)
c.457T>A (p.Ser153Thr)
c.589T>A (p.Ser197Thr)
n.829T>A
6g.33435276T>CCA363682251SYNGAP1c.376T>C (p.Ser126Pro)
c.634T>C (p.Ser212Pro)
c.457T>C (p.Ser153Pro)
c.589T>C (p.Ser197Pro)
n.829T>C
6g.33435276T>GCA363682252SYNGAP1c.376T>G (p.Ser126Ala)
c.634T>G (p.Ser212Ala)
c.457T>G (p.Ser153Ala)
c.589T>G (p.Ser197Ala)
n.829T>G
6g.33435277C>ACA363682253SYNGAP1c.377C>A (p.Ser126Tyr)
c.635C>A (p.Ser212Tyr)
c.458C>A (p.Ser153Tyr)
c.590C>A (p.Ser197Tyr)
n.830C>A
6g.33435277C>GCA363682254SYNGAP1c.377C>G (p.Ser126Cys)
c.635C>G (p.Ser212Cys)
c.458C>G (p.Ser153Cys)
c.590C>G (p.Ser197Cys)
n.830C>G
6g.33435277C>TCA363682255SYNGAP1c.377C>T (p.Ser126Phe)
c.635C>T (p.Ser212Phe)
c.458C>T (p.Ser153Phe)
c.590C>T (p.Ser197Phe)
n.830C>T
6g.33435278C>ACA450107005SYNGAP1c.378C>A (p.Ser126=)
c.636C>A (p.Ser212=)
c.459C>A (p.Ser153=)
c.591C>A (p.Ser197=)
n.831C>A
6g.33435278C>GCA450107007SYNGAP1c.378C>G (p.Ser126=)
c.636C>G (p.Ser212=)
c.459C>G (p.Ser153=)
c.591C>G (p.Ser197=)
n.831C>G
6g.33435278C>TCA450107006SYNGAP1c.378C>T (p.Ser126=)
c.636C>T (p.Ser212=)
c.459C>T (p.Ser153=)
c.591C>T (p.Ser197=)
n.831C>T
6g.33435279A>CCA363682256SYNGAP1c.379A>C (p.Ile127Leu)
c.637A>C (p.Ile213Leu)
c.460A>C (p.Ile154Leu)
c.592A>C (p.Ile198Leu)
n.832A>C
6g.33435279A>GCA363682257SYNGAP1c.379A>G (p.Ile127Val)
c.637A>G (p.Ile213Val)
c.460A>G (p.Ile154Val)
c.592A>G (p.Ile198Val)
n.832A>G
6g.33435279A>TCA363682258SYNGAP1c.379A>T (p.Ile127Phe)
c.637A>T (p.Ile213Phe)
c.460A>T (p.Ile154Phe)
c.592A>T (p.Ile198Phe)
n.832A>T
6g.33435280T>ACA363682261SYNGAP1c.380T>A (p.Ile127Asn)
c.638T>A (p.Ile213Asn)
c.461T>A (p.Ile154Asn)
c.593T>A (p.Ile198Asn)
n.833T>A
6g.33435280T>CCA363682260SYNGAP1c.380T>C (p.Ile127Thr)
c.638T>C (p.Ile213Thr)
c.461T>C (p.Ile154Thr)
c.593T>C (p.Ile198Thr)
n.833T>C
6g.33435280T>GCA363682259SYNGAP1c.380T>G (p.Ile127Ser)
c.638T>G (p.Ile213Ser)
c.461T>G (p.Ile154Ser)
c.593T>G (p.Ile198Ser)
n.833T>G
6g.33435281C>ACA450107008SYNGAP1c.381C>A (p.Ile127=)
c.639C>A (p.Ile213=)
c.462C>A (p.Ile154=)
c.594C>A (p.Ile198=)
n.834C>A
6g.33435281C>GCA363682263SYNGAP1c.381C>G (p.Ile127Met)
c.639C>G (p.Ile213Met)
c.462C>G (p.Ile154Met)
c.594C>G (p.Ile198Met)
n.834C>G
6g.33435281C>TCA450107009SYNGAP1c.381C>T (p.Ile127=)
c.639C>T (p.Ile213=)
c.462C>T (p.Ile154=)
c.594C>T (p.Ile198=)
n.834C>T
6g.33435282delCA2695202901SYNGAP1c.382del (p.Leu128TrpfsTer9)
c.640del (p.Leu214TrpfsTer9)
c.463del (p.Leu155TrpfsTer9)
c.595del (p.Leu199TrpfsTer9)
n.835del
6g.33435282C>ACA363682265SYNGAP1c.382C>A (p.Leu128Met)
c.640C>A (p.Leu214Met)
c.463C>A (p.Leu155Met)
c.595C>A (p.Leu199Met)
n.835C>A
6g.33435282C>GCA363682268SYNGAP1c.382C>G (p.Leu128Val)
c.640C>G (p.Leu214Val)
c.463C>G (p.Leu155Val)
c.595C>G (p.Leu199Val)
n.835C>G
6g.33435282C>TCA450107010SYNGAP1c.382C>T (p.Leu128=)
c.640C>T (p.Leu214=)
c.463C>T (p.Leu155=)
c.595C>T (p.Leu199=)
n.835C>T
6g.33435283T>ACA363682271SYNGAP1c.383T>A (p.Leu128Gln)
c.641T>A (p.Leu214Gln)
c.464T>A (p.Leu155Gln)
c.596T>A (p.Leu199Gln)
n.836T>A
6g.33435283T>CCA363682272SYNGAP1c.383T>C (p.Leu128Pro)
c.641T>C (p.Leu214Pro)
c.464T>C (p.Leu155Pro)
c.596T>C (p.Leu199Pro)
n.836T>C
6g.33435283T>GCA363682274SYNGAP1c.383T>G (p.Leu128Arg)
c.641T>G (p.Leu214Arg)
c.464T>G (p.Leu155Arg)
c.596T>G (p.Leu199Arg)
n.836T>G
6g.33435284G>ACA450107013SYNGAP1c.384G>A (p.Leu128=)
c.642G>A (p.Leu214=)
c.465G>A (p.Leu155=)
c.597G>A (p.Leu199=)
n.837G>A
 COSMIC COSMIC
6g.33435284G>CCA450107012SYNGAP1c.384G>C (p.Leu128=)
c.642G>C (p.Leu214=)
c.465G>C (p.Leu155=)
c.597G>C (p.Leu199=)
n.837G>C
6g.33435284G>TCA450107011SYNGAP1c.384G>T (p.Leu128=)
c.642G>T (p.Leu214=)
c.465G>T (p.Leu155=)
c.597G>T (p.Leu199=)
n.837G>T
6g.33435285G>ACA363682278SYNGAP1c.385G>A (p.Gly129Ser)
c.643G>A (p.Gly215Ser)
c.466G>A (p.Gly156Ser)
c.598G>A (p.Gly200Ser)
n.838G>A
6g.33435285G>CCA363682280SYNGAP1c.385G>C (p.Gly129Arg)
c.643G>C (p.Gly215Arg)
c.466G>C (p.Gly156Arg)
c.598G>C (p.Gly200Arg)
n.838G>C
6g.33435285G>TCA363682282SYNGAP1c.385G>T (p.Gly129Cys)
c.643G>T (p.Gly215Cys)
c.466G>T (p.Gly156Cys)
c.598G>T (p.Gly200Cys)
n.838G>T
6g.33435286G>ACA363682285SYNGAP1c.386G>A (p.Gly129Asp)
c.644G>A (p.Gly215Asp)
c.467G>A (p.Gly156Asp)
c.599G>A (p.Gly200Asp)
n.839G>A
6g.33435286G>CCA363682287SYNGAP1c.386G>C (p.Gly129Ala)
c.644G>C (p.Gly215Ala)
c.467G>C (p.Gly156Ala)
c.599G>C (p.Gly200Ala)
n.839G>C
6g.33435286G>TCA363682289SYNGAP1c.386G>T (p.Gly129Val)
c.644G>T (p.Gly215Val)
c.467G>T (p.Gly156Val)
c.599G>T (p.Gly200Val)
n.839G>T
6g.33435287C>ACA450107014SYNGAP1c.387C>A (p.Gly129=)
c.645C>A (p.Gly215=)
c.468C>A (p.Gly156=)
c.600C>A (p.Gly200=)
n.840C>A
6g.33435287C>GCA450107016SYNGAP1c.387C>G (p.Gly129=)
c.645C>G (p.Gly215=)
c.468C>G (p.Gly156=)
c.600C>G (p.Gly200=)
n.840C>G
 ClinVar dbSNP gnomAD v4
6g.33435287C>TCA450107015SYNGAP1c.387C>T (p.Gly129=)
c.645C>T (p.Gly215=)
c.468C>T (p.Gly156=)
c.600C>T (p.Gly200=)
n.840C>T
6g.33435288C>ACA363682296SYNGAP1c.388C>A (p.Gln130Lys)
c.646C>A (p.Gln216Lys)
c.469C>A (p.Gln157Lys)
c.601C>A (p.Gln201Lys)
n.841C>A
6g.33435288C=CA1620011341SYNGAP1c.388C= (p.Gln130=)
c.646C= (p.Gln216=)
c.469C= (p.Gln157=)
c.601C= (p.Gln201=)
n.841C=
6g.33435288C>GCA363682294SYNGAP1c.388C>G (p.Gln130Glu)
c.646C>G (p.Gln216Glu)
c.469C>G (p.Gln157Glu)
c.601C>G (p.Gln201Glu)
n.841C>G
6g.33435288C>TCA363682292SYNGAP1c.388C>T (p.Gln130Ter)
c.646C>T (p.Gln216Ter)
c.469C>T (p.Gln157Ter)
c.601C>T (p.Gln201Ter)
n.841C>T
 ClinVar dbSNP
6g.33435289A>CCA363682298SYNGAP1c.389A>C (p.Gln130Pro)
c.647A>C (p.Gln216Pro)
c.470A>C (p.Gln157Pro)
c.602A>C (p.Gln201Pro)
n.842A>C
6g.33435289A>GCA363682302SYNGAP1c.389A>G (p.Gln130Arg)
c.647A>G (p.Gln216Arg)
c.470A>G (p.Gln157Arg)
c.602A>G (p.Gln201Arg)
n.842A>G
6g.33435289A>TCA363682300SYNGAP1c.389A>T (p.Gln130Leu)
c.647A>T (p.Gln216Leu)
c.470A>T (p.Gln157Leu)
c.602A>T (p.Gln201Leu)
n.842A>T
6g.33435290G>ACA450107017SYNGAP1c.390G>A (p.Gln130=)
c.648G>A (p.Gln216=)
c.471G>A (p.Gln157=)
c.603G>A (p.Gln201=)
n.843G>A
6g.33435290G>CCA363682305SYNGAP1c.390G>C (p.Gln130His)
c.648G>C (p.Gln216His)
c.471G>C (p.Gln157His)
c.603G>C (p.Gln201His)
n.843G>C
6g.33435290G>TCA363682307SYNGAP1c.390G>T (p.Gln130His)
c.648G>T (p.Gln216His)
c.471G>T (p.Gln157His)
c.603G>T (p.Gln201His)
n.843G>T
6g.33435291G>ACA363682310SYNGAP1c.391G>A (p.Glu131Lys)
c.649G>A (p.Glu217Lys)
c.472G>A (p.Glu158Lys)
c.604G>A (p.Glu202Lys)
n.844G>A
6g.33435291G>CCA363682312SYNGAP1c.391G>C (p.Glu131Gln)
c.649G>C (p.Glu217Gln)
c.472G>C (p.Glu158Gln)
c.604G>C (p.Glu202Gln)
n.844G>C
 gnomAD v4
6g.33435291G=CA1620011342SYNGAP1c.391G= (p.Glu131=)
c.649G= (p.Glu217=)
c.472G= (p.Glu158=)
c.604G= (p.Glu202=)
n.844G=
6g.33435291G>TCA363682314SYNGAP1c.391G>T (p.Glu131Ter)
c.649G>T (p.Glu217Ter)
c.472G>T (p.Glu158Ter)
c.604G>T (p.Glu202Ter)
n.844G>T
 dbSNP
6g.33435292A>CCA363682317SYNGAP1c.392A>C (p.Glu131Ala)
c.650A>C (p.Glu217Ala)
c.473A>C (p.Glu158Ala)
c.605A>C (p.Glu202Ala)
n.845A>C
6g.33435292A>GCA363682318SYNGAP1c.392A>G (p.Glu131Gly)
c.650A>G (p.Glu217Gly)
c.473A>G (p.Glu158Gly)
c.605A>G (p.Glu202Gly)
n.845A>G
6g.33435292A>TCA363682320SYNGAP1c.392A>T (p.Glu131Val)
c.650A>T (p.Glu217Val)
c.473A>T (p.Glu158Val)
c.605A>T (p.Glu202Val)
n.845A>T
6g.33435293G>ACA450107018SYNGAP1c.393G>A (p.Glu131=)
c.651G>A (p.Glu217=)
c.474G>A (p.Glu158=)
c.606G>A (p.Glu202=)
n.846G>A
6g.33435293G>CCA363682323SYNGAP1c.393G>C (p.Glu131Asp)
c.651G>C (p.Glu217Asp)
c.474G>C (p.Glu158Asp)
c.606G>C (p.Glu202Asp)
n.846G>C
6g.33435293G>TCA363682324SYNGAP1c.393G>T (p.Glu131Asp)
c.651G>T (p.Glu217Asp)
c.474G>T (p.Glu158Asp)
c.606G>T (p.Glu202Asp)
n.846G>T
 gnomAD v4
6g.33435294T>ACA363682327SYNGAP1c.394T>A (p.Phe132Ile)
c.652T>A (p.Phe218Ile)
c.475T>A (p.Phe159Ile)
c.607T>A (p.Phe203Ile)
n.847T>A
 gnomAD v4
6g.33435294T>CCA363682328SYNGAP1c.394T>C (p.Phe132Leu)
c.652T>C (p.Phe218Leu)
c.475T>C (p.Phe159Leu)
c.607T>C (p.Phe203Leu)
n.847T>C
6g.33435294T>GCA363682330SYNGAP1c.394T>G (p.Phe132Val)
c.652T>G (p.Phe218Val)
c.475T>G (p.Phe159Val)
c.607T>G (p.Phe203Val)
n.847T>G
6g.33435294_33435296delinsTTCCA1620011343SYNGAP1c.394_396delinsTTC (p.Phe132=)
c.652_654delinsTTC (p.Phe218=)
c.475_477delinsTTC (p.Phe159=)
c.607_609delinsTTC (p.Phe203=)
n.847_849delinsTTC
6g.33435295T>ACA363682337SYNGAP1c.395T>A (p.Phe132Tyr)
c.653T>A (p.Phe218Tyr)
c.476T>A (p.Phe159Tyr)
c.608T>A (p.Phe203Tyr)
n.848T>A
6g.33435295T>CCA363682333SYNGAP1c.395T>C (p.Phe132Ser)
c.653T>C (p.Phe218Ser)
c.476T>C (p.Phe159Ser)
c.608T>C (p.Phe203Ser)
n.848T>C
6g.33435295T>GCA363682335SYNGAP1c.395T>G (p.Phe132Cys)
c.653T>G (p.Phe218Cys)
c.476T>G (p.Phe159Cys)
c.608T>G (p.Phe203Cys)
n.848T>G
 gnomAD v4
6g.33435296_33435297delCA1620011344SYNGAP1c.396_397del (p.Phe132LeufsTer3)
c.654_655del (p.Phe218LeufsTer3)
c.477_478del (p.Phe159LeufsTer3)
c.609_610del (p.Phe203LeufsTer3)
n.849_850del
 ClinVar dbSNP
6g.33435296C>ACA363682339SYNGAP1c.396C>A (p.Phe132Leu)
c.654C>A (p.Phe218Leu)
c.477C>A (p.Phe159Leu)
c.609C>A (p.Phe203Leu)
n.849C>A
6g.33435296C=CA1620011345SYNGAP1c.396C= (p.Phe132=)
c.654C= (p.Phe218=)
c.477C= (p.Phe159=)
c.609C= (p.Phe203=)
n.849C=
6g.33435296C>GCA363682341SYNGAP1c.396C>G (p.Phe132Leu)
c.654C>G (p.Phe218Leu)
c.477C>G (p.Phe159Leu)
c.609C>G (p.Phe203Leu)
n.849C>G
6g.33435296C>TCA137097654SYNGAP1c.396C>T (p.Phe132=)
c.654C>T (p.Phe218=)
c.477C>T (p.Phe159=)
c.609C>T (p.Phe203=)
n.849C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33435297T>ACA363682345SYNGAP1c.397T>A (p.Cys133Ser)
c.655T>A (p.Cys219Ser)
c.478T>A (p.Cys160Ser)
c.610T>A (p.Cys204Ser)
n.850T>A
6g.33435297T>CCA363682347SYNGAP1c.397T>C (p.Cys133Arg)
c.655T>C (p.Cys219Arg)
c.478T>C (p.Cys160Arg)
c.610T>C (p.Cys204Arg)
n.850T>C
6g.33435297T>GCA363682348SYNGAP1c.397T>G (p.Cys133Gly)
c.655T>G (p.Cys219Gly)
c.478T>G (p.Cys160Gly)
c.610T>G (p.Cys204Gly)
n.850T>G
6g.33435298G>ACA363682352SYNGAP1c.398G>A (p.Cys133Tyr)
c.656G>A (p.Cys219Tyr)
c.479G>A (p.Cys160Tyr)
c.611G>A (p.Cys204Tyr)
n.851G>A
6g.33435298G>CCA363682354SYNGAP1c.398G>C (p.Cys133Ser)
c.656G>C (p.Cys219Ser)
c.479G>C (p.Cys160Ser)
c.611G>C (p.Cys204Ser)
n.851G>C
6g.33435298G>TCA363682355SYNGAP1c.398G>T (p.Cys133Phe)
c.656G>T (p.Cys219Phe)
c.479G>T (p.Cys160Phe)
c.611G>T (p.Cys204Phe)
n.851G>T
6g.33435299T>ACA363682356SYNGAP1c.399T>A (p.Cys133Ter)
c.657T>A (p.Cys219Ter)
c.480T>A (p.Cys160Ter)
c.612T>A (p.Cys204Ter)
n.852T>A
 dbSNP
6g.33435299T>CCA450107019SYNGAP1c.399T>C (p.Cys133=)
c.657T>C (p.Cys219=)
c.480T>C (p.Cys160=)
c.612T>C (p.Cys204=)
n.852T>C
6g.33435299T>GCA363682358SYNGAP1c.399T>G (p.Cys133Trp)
c.657T>G (p.Cys219Trp)
c.480T>G (p.Cys160Trp)
c.612T>G (p.Cys204Trp)
n.852T>G
6g.33435299T=CA1620011346SYNGAP1c.399T= (p.Cys133=)
c.657T= (p.Cys219=)
c.480T= (p.Cys160=)
c.612T= (p.Cys204=)
n.852T=
6g.33435300T>ACA363682362SYNGAP1c.400T>A (p.Phe134Ile)
c.658T>A (p.Phe220Ile)
c.481T>A (p.Phe161Ile)
c.613T>A (p.Phe205Ile)
n.853T>A
6g.33435300T>CCA363682364SYNGAP1c.400T>C (p.Phe134Leu)
c.658T>C (p.Phe220Leu)
c.481T>C (p.Phe161Leu)
c.613T>C (p.Phe205Leu)
n.853T>C
6g.33435300T>GCA363682361SYNGAP1c.400T>G (p.Phe134Val)
c.658T>G (p.Phe220Val)
c.481T>G (p.Phe161Val)
c.613T>G (p.Phe205Val)
n.853T>G
6g.33435301T>ACA363682366SYNGAP1c.401T>A (p.Phe134Tyr)
c.659T>A (p.Phe220Tyr)
c.482T>A (p.Phe161Tyr)
c.614T>A (p.Phe205Tyr)
n.854T>A
6g.33435301T>CCA363682369SYNGAP1c.401T>C (p.Phe134Ser)
c.659T>C (p.Phe220Ser)
c.482T>C (p.Phe161Ser)
c.614T>C (p.Phe205Ser)
n.854T>C
6g.33435301T>GCA363682371SYNGAP1c.401T>G (p.Phe134Cys)
c.659T>G (p.Phe220Cys)
c.482T>G (p.Phe161Cys)
c.614T>G (p.Phe205Cys)
n.854T>G
6g.33435302T>ACA363682374SYNGAP1c.402T>A (p.Phe134Leu)
c.660T>A (p.Phe220Leu)
c.483T>A (p.Phe161Leu)
c.615T>A (p.Phe205Leu)
n.855T>A
6g.33435302T>CCA450107020SYNGAP1c.402T>C (p.Phe134=)
c.660T>C (p.Phe220=)
c.483T>C (p.Phe161=)
c.615T>C (p.Phe205=)
n.855T>C
 ClinVar
6g.33435302T>GCA363682376SYNGAP1c.402T>G (p.Phe134Leu)
c.660T>G (p.Phe220Leu)
c.483T>G (p.Phe161Leu)
c.615T>G (p.Phe205Leu)
n.855T>G
6g.33435303G>ACA363682379SYNGAP1c.403G>A (p.Glu135Lys)
c.661G>A (p.Glu221Lys)
c.484G>A (p.Glu162Lys)
c.616G>A (p.Glu206Lys)
n.856G>A
 COSMIC COSMIC
6g.33435303G>CCA363682381SYNGAP1c.403G>C (p.Glu135Gln)
c.661G>C (p.Glu221Gln)
c.484G>C (p.Glu162Gln)
c.616G>C (p.Glu206Gln)
n.856G>C
6g.33435303G=CA1620011347SYNGAP1c.403G= (p.Glu135=)
c.661G= (p.Glu221=)
c.484G= (p.Glu162=)
c.616G= (p.Glu206=)
n.856G=
6g.33435303G>TCA363682383SYNGAP1c.403G>T (p.Glu135Ter)
c.661G>T (p.Glu221Ter)
c.484G>T (p.Glu162Ter)
c.616G>T (p.Glu206Ter)
n.856G>T
 dbSNP
6g.33435304A>CCA363682386SYNGAP1c.404A>C (p.Glu135Ala)
c.662A>C (p.Glu221Ala)
c.485A>C (p.Glu162Ala)
c.617A>C (p.Glu206Ala)
n.857A>C
6g.33435304A>GCA363682388SYNGAP1c.404A>G (p.Glu135Gly)
c.662A>G (p.Glu221Gly)
c.485A>G (p.Glu162Gly)
c.617A>G (p.Glu206Gly)
n.857A>G
6g.33435304A>TCA363682390SYNGAP1c.404A>T (p.Glu135Val)
c.662A>T (p.Glu221Val)
c.485A>T (p.Glu162Val)
c.617A>T (p.Glu206Val)
n.857A>T
 ClinVar
6g.33435305G>ACA450107021SYNGAP1c.405G>A (p.Glu135=)
c.663G>A (p.Glu221=)
c.486G>A (p.Glu162=)
c.618G>A (p.Glu206=)
n.858G>A
6g.33435305G>CCA363682394SYNGAP1c.405G>C (p.Glu135Asp)
c.663G>C (p.Glu221Asp)
c.486G>C (p.Glu162Asp)
c.618G>C (p.Glu206Asp)
n.858G>C
6g.33435305G>TCA363682396SYNGAP1c.405G>T (p.Glu135Asp)
c.663G>T (p.Glu221Asp)
c.486G>T (p.Glu162Asp)
c.618G>T (p.Glu206Asp)
n.858G>T
6g.33435306G>ACA16621837SYNGAP1c.405+1G>A (n.405+1G>A)
c.663+1G>A (n.663+1G>A)
c.486+1G>A (n.486+1G>A)
c.618+1G>A (n.618+1G>A)
n.858+1G>A
 ClinVar dbSNP
6g.33435306G>CCA363682404SYNGAP1c.405+1G>C (n.405+1G>C)
c.663+1G>C (n.663+1G>C)
c.486+1G>C (n.486+1G>C)
c.618+1G>C (n.618+1G>C)
n.858+1G>C
6g.33435306G=CA1620011348SYNGAP1c.405+1G= (n.405+1G=)
c.663+1G= (n.663+1G=)
c.486+1G= (n.486+1G=)
c.618+1G= (n.618+1G=)
n.858+1G=
6g.33435306G>TCA363682401SYNGAP1c.405+1G>T (n.405+1G>T)
c.663+1G>T (n.663+1G>T)
c.486+1G>T (n.486+1G>T)
c.618+1G>T (n.618+1G>T)
n.858+1G>T
 ClinVar dbSNP
6g.33435307T>ACA363682409SYNGAP1c.405+2T>A (n.405+2T>A)
c.663+2T>A (n.663+2T>A)
c.486+2T>A (n.486+2T>A)
c.618+2T>A (n.618+2T>A)
n.858+2T>A
6g.33435307T>CCA363682413SYNGAP1c.405+2T>C (n.405+2T>C)
c.663+2T>C (n.663+2T>C)
c.486+2T>C (n.486+2T>C)
c.618+2T>C (n.618+2T>C)
n.858+2T>C
6g.33435307T>GCA363682418SYNGAP1c.405+2T>G (n.405+2T>G)
c.663+2T>G (n.663+2T>G)
c.486+2T>G (n.486+2T>G)
c.618+2T>G (n.618+2T>G)
n.858+2T>G
6g.33435308A=CA1620011349SYNGAP1c.405+3A= (n.405+3A=)
c.663+3A= (n.663+3A=)
c.486+3A= (n.486+3A=)
c.618+3A= (n.618+3A=)
n.858+3A=
6g.33435308A>GCA1620011350SYNGAP1c.405+3A>G (n.405+3A>G)
c.663+3A>G (n.663+3A>G)
c.486+3A>G (n.486+3A>G)
c.618+3A>G (n.618+3A>G)
n.858+3A>G
 dbSNP
6g.33435309C=CA1620011351SYNGAP1c.405+4C= (n.405+4C=)
c.663+4C= (n.663+4C=)
c.486+4C= (n.486+4C=)
c.618+4C= (n.618+4C=)
n.858+4C=
6g.33435309C>GCA2580074374SYNGAP1c.405+4C>G (n.405+4C>G)
c.663+4C>G (n.663+4C>G)
c.486+4C>G (n.486+4C>G)
c.618+4C>G (n.618+4C>G)
n.858+4C>G
 ClinVar
6g.33435309C>TCA566700431SYNGAP1c.405+4C>T (n.405+4C>T)
c.663+4C>T (n.663+4C>T)
c.486+4C>T (n.486+4C>T)
c.618+4C>T (n.618+4C>T)
n.858+4C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33435310T>GCA2678272413SYNGAP1c.405+5T>G (n.405+5T>G)
c.663+5T>G (n.663+5T>G)
c.486+5T>G (n.486+5T>G)
c.618+5T>G (n.618+5T>G)
n.858+5T>G
 gnomAD v4
6g.33435313G>CCA566700432SYNGAP1c.405+8G>C (n.405+8G>C)
c.663+8G>C (n.663+8G>C)
c.486+8G>C (n.486+8G>C)
c.618+8G>C (n.618+8G>C)
n.858+8G>C
 dbSNP gnomAD v2 gnomAD v4
6g.33435313G=CA1620011352SYNGAP1c.405+8G= (n.405+8G=)
c.663+8G= (n.663+8G=)
c.486+8G= (n.486+8G=)
c.618+8G= (n.618+8G=)
n.858+8G=
6g.33435315C=CA1620011353SYNGAP1c.405+10C= (n.405+10C=)
c.663+10C= (n.663+10C=)
c.486+10C= (n.486+10C=)
c.618+10C= (n.618+10C=)
n.858+10C=
6g.33435315C>GCA137097657SYNGAP1c.405+10C>G (n.405+10C>G)
c.663+10C>G (n.663+10C>G)
c.486+10C>G (n.486+10C>G)
c.618+10C>G (n.618+10C>G)
n.858+10C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33435316T>GCA1620011355SYNGAP1c.405+11T>G (n.405+11T>G)
c.663+11T>G (n.663+11T>G)
c.486+11T>G (n.486+11T>G)
c.618+11T>G (n.618+11T>G)
n.858+11T>G
 dbSNP gnomAD v4
6g.33435316T=CA1620011354SYNGAP1c.405+11T= (n.405+11T=)
c.663+11T= (n.663+11T=)
c.486+11T= (n.486+11T=)
c.618+11T= (n.618+11T=)
n.858+11T=
6g.33435318G>CCA2678272423SYNGAP1c.405+13G>C (n.405+13G>C)
c.663+13G>C (n.663+13G>C)
c.486+13G>C (n.486+13G>C)
c.618+13G>C (n.618+13G>C)
n.858+13G>C
 gnomAD v4
6g.33435318G>TCA2678272422SYNGAP1c.405+13G>T (n.405+13G>T)
c.663+13G>T (n.663+13G>T)
c.486+13G>T (n.486+13G>T)
c.618+13G>T (n.618+13G>T)
n.858+13G>T
 gnomAD v4
6g.33435319T>GCA1087668242SYNGAP1c.405+14T>G (n.405+14T>G)
c.663+14T>G (n.663+14T>G)
c.486+14T>G (n.486+14T>G)
c.618+14T>G (n.618+14T>G)
n.858+14T>G
 gnomAD v3 gnomAD v4
6g.33435322G>CCA2578585380SYNGAP1c.405+17G>C (n.405+17G>C)
c.663+17G>C (n.663+17G>C)
c.486+17G>C (n.486+17G>C)
c.618+17G>C (n.618+17G>C)
n.858+17G>C
6g.33435323C>TCA2678272425SYNGAP1c.405+18C>T (n.405+18C>T)
c.663+18C>T (n.663+18C>T)
c.486+18C>T (n.486+18C>T)
c.618+18C>T (n.618+18C>T)
n.858+18C>T
 gnomAD v4
6g.33435325G>ACA1087668245SYNGAP1c.405+20G>A (n.405+20G>A)
c.663+20G>A (n.663+20G>A)
c.486+20G>A (n.486+20G>A)
c.618+20G>A (n.618+20G>A)
n.858+20G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33435325G=CA1620011356SYNGAP1c.405+20G= (n.405+20G=)
c.663+20G= (n.663+20G=)
c.486+20G= (n.486+20G=)
c.618+20G= (n.618+20G=)
n.858+20G=
6g.33435328delCA2535772243SYNGAP1c.405+23del (n.405+23del)
c.663+23del (n.663+23del)
c.486+23del (n.486+23del)
c.618+23del (n.618+23del)
n.858+23del
 gnomAD v4

Number of alleles fetched