Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33446566G>ACA658796751SYNGAP1,SYNGAP1-AS1c.3325-9G>A (n.3325-9G>A)
c.3583-9G>A (n.3583-9G>A)
c.3541-15G>A (n.3541-15G>A)
c.3406-9G>A (n.3406-9G>A)
c.3538-9G>A (n.3538-9G>A)
n.329+40C>T
 ClinVar dbSNP
6g.33446566G=CA1620016772SYNGAP1,SYNGAP1-AS1c.3325-9G= (n.3325-9G=)
c.3583-9G= (n.3583-9G=)
c.3541-15G= (n.3541-15G=)
c.3406-9G= (n.3406-9G=)
c.3538-9G= (n.3538-9G=)
n.329+40C=
6g.33446567G>CCA2578585618SYNGAP1,SYNGAP1-AS1c.3325-8G>C (n.3325-8G>C)
c.3583-8G>C (n.3583-8G>C)
c.3541-14G>C (n.3541-14G>C)
c.3406-8G>C (n.3406-8G>C)
c.3538-8G>C (n.3538-8G>C)
n.329+39C>G
6g.33446568C>ACA2770567407SYNGAP1,SYNGAP1-AS1c.3325-7C>A (n.3325-7C>A)
c.3583-7C>A (n.3583-7C>A)
c.3541-13C>A (n.3541-13C>A)
c.3406-7C>A (n.3406-7C>A)
c.3538-7C>A (n.3538-7C>A)
n.329+38G>T
6g.33446568C=CA1620016775SYNGAP1,SYNGAP1-AS1c.3325-7C= (n.3325-7C=)
c.3583-7C= (n.3583-7C=)
c.3541-13C= (n.3541-13C=)
c.3406-7C= (n.3406-7C=)
c.3538-7C= (n.3538-7C=)
n.329+38G=
6g.33446568C>GCA2578585619SYNGAP1,SYNGAP1-AS1c.3325-7C>G (n.3325-7C>G)
c.3583-7C>G (n.3583-7C>G)
c.3541-13C>G (n.3541-13C>G)
c.3406-7C>G (n.3406-7C>G)
c.3538-7C>G (n.3538-7C>G)
n.329+38G>C
6g.33446568C>TCA3759075SYNGAP1,SYNGAP1-AS1c.3325-7C>T (n.3325-7C>T)
c.3583-7C>T (n.3583-7C>T)
c.3541-13C>T (n.3541-13C>T)
c.3406-7C>T (n.3406-7C>T)
c.3538-7C>T (n.3538-7C>T)
n.329+38G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446569G>ACA354198SYNGAP1,SYNGAP1-AS1c.3325-6G>A (n.3325-6G>A)
c.3583-6G>A (n.3583-6G>A)
c.3541-12G>A (n.3541-12G>A)
c.3406-6G>A (n.3406-6G>A)
c.3538-6G>A (n.3538-6G>A)
n.329+37C>T
 ClinVar dbSNP gnomAD v4
6g.33446569G>CCA566700770SYNGAP1,SYNGAP1-AS1c.3325-6G>C (n.3325-6G>C)
c.3583-6G>C (n.3583-6G>C)
c.3541-12G>C (n.3541-12G>C)
c.3406-6G>C (n.3406-6G>C)
c.3538-6G>C (n.3538-6G>C)
n.329+37C>G
 dbSNP gnomAD v2 gnomAD v4
6g.33446569G=CA1620016780SYNGAP1,SYNGAP1-AS1c.3325-6G= (n.3325-6G=)
c.3583-6G= (n.3583-6G=)
c.3541-12G= (n.3541-12G=)
c.3406-6G= (n.3406-6G=)
c.3538-6G= (n.3538-6G=)
n.329+37C=
6g.33446569G>TCA2678278391SYNGAP1,SYNGAP1-AS1c.3325-6G>T (n.3325-6G>T)
c.3583-6G>T (n.3583-6G>T)
c.3541-12G>T (n.3541-12G>T)
c.3406-6G>T (n.3406-6G>T)
c.3538-6G>T (n.3538-6G>T)
n.329+37C>A
 gnomAD v4
6g.33446570G>TCA2578585620SYNGAP1,SYNGAP1-AS1c.3325-5G>T (n.3325-5G>T)
c.3583-5G>T (n.3583-5G>T)
c.3541-11G>T (n.3541-11G>T)
c.3406-5G>T (n.3406-5G>T)
c.3538-5G>T (n.3538-5G>T)
n.329+36C>A
6g.33446571G>ACA1087662402SYNGAP1,SYNGAP1-AS1c.3325-4G>A (n.3325-4G>A)
c.3583-4G>A (n.3583-4G>A)
c.3541-10G>A (n.3541-10G>A)
c.3406-4G>A (n.3406-4G>A)
c.3538-4G>A (n.3538-4G>A)
n.329+35C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33446571G=CA1620016783SYNGAP1,SYNGAP1-AS1c.3325-4G= (n.3325-4G=)
c.3583-4G= (n.3583-4G=)
c.3541-10G= (n.3541-10G=)
c.3406-4G= (n.3406-4G=)
c.3538-4G= (n.3538-4G=)
n.329+35C=
6g.33446572C=CA1620016784SYNGAP1,SYNGAP1-AS1c.3325-3C= (n.3325-3C=)
c.3583-3C= (n.3583-3C=)
c.3541-9C= (n.3541-9C=)
c.3406-3C= (n.3406-3C=)
c.3538-3C= (n.3538-3C=)
n.329+34G=
6g.33446572C>TCA3759076SYNGAP1,SYNGAP1-AS1c.3325-3C>T (n.3325-3C>T)
c.3583-3C>T (n.3583-3C>T)
c.3541-9C>T (n.3541-9C>T)
c.3406-3C>T (n.3406-3C>T)
c.3538-3C>T (n.3538-3C>T)
n.329+34G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446573A>CCA363636763SYNGAP1,SYNGAP1-AS1c.3325-2A>C (n.3325-2A>C)
c.3583-2A>C (n.3583-2A>C)
c.3541-8A>C (n.3541-8A>C)
c.3406-2A>C (n.3406-2A>C)
c.3538-2A>C (n.3538-2A>C)
n.329+33T>G
6g.33446573A>GCA363636765SYNGAP1,SYNGAP1-AS1c.3325-2A>G (n.3325-2A>G)
c.3583-2A>G (n.3583-2A>G)
c.3541-8A>G (n.3541-8A>G)
c.3406-2A>G (n.3406-2A>G)
c.3538-2A>G (n.3538-2A>G)
n.329+33T>C
6g.33446573A>TCA363636767SYNGAP1,SYNGAP1-AS1c.3325-2A>T (n.3325-2A>T)
c.3583-2A>T (n.3583-2A>T)
c.3541-8A>T (n.3541-8A>T)
c.3406-2A>T (n.3406-2A>T)
c.3538-2A>T (n.3538-2A>T)
n.329+33T>A
6g.33446574G>ACA363636769SYNGAP1,SYNGAP1-AS1c.3325-1G>A (n.3325-1G>A)
c.3583-1G>A (n.3583-1G>A)
c.3541-7G>A (n.3541-7G>A)
c.3406-1G>A (n.3406-1G>A)
c.3538-1G>A (n.3538-1G>A)
n.329+32C>T
6g.33446574G>CCA363636771SYNGAP1,SYNGAP1-AS1c.3325-1G>C (n.3325-1G>C)
c.3583-1G>C (n.3583-1G>C)
c.3541-7G>C (n.3541-7G>C)
c.3406-1G>C (n.3406-1G>C)
c.3538-1G>C (n.3538-1G>C)
n.329+32C>G
6g.33446574G>TCA363636772SYNGAP1,SYNGAP1-AS1c.3325-1G>T (n.3325-1G>T)
c.3583-1G>T (n.3583-1G>T)
c.3541-7G>T (n.3541-7G>T)
c.3406-1G>T (n.3406-1G>T)
c.3538-1G>T (n.3538-1G>T)
n.329+32C>A
6g.33446575G>ACA363636774SYNGAP1,SYNGAP1-AS1c.3325G>A (p.Val1109Met)
c.3583G>A (p.Val1195Met)
c.3541-6G>A (n.3541-6G>A)
c.3406G>A (p.Val1136Met)
c.3538G>A (p.Val1180Met)
n.329+31C>T
6g.33446575G>CCA363636779SYNGAP1,SYNGAP1-AS1c.3325G>C (p.Val1109Leu)
c.3583G>C (p.Val1195Leu)
c.3541-6G>C (n.3541-6G>C)
c.3406G>C (p.Val1136Leu)
c.3538G>C (p.Val1180Leu)
n.329+31C>G
6g.33446575G>TCA363636780SYNGAP1,SYNGAP1-AS1c.3325G>T (p.Val1109Leu)
c.3583G>T (p.Val1195Leu)
c.3541-6G>T (n.3541-6G>T)
c.3406G>T (p.Val1136Leu)
c.3538G>T (p.Val1180Leu)
n.329+31C>A
6g.33446576T>ACA363636782SYNGAP1,SYNGAP1-AS1c.3326T>A (p.Val1109Glu)
c.3584T>A (p.Val1195Glu)
c.3541-5T>A (n.3541-5T>A)
c.3407T>A (p.Val1136Glu)
c.3539T>A (p.Val1180Glu)
n.329+30A>T
6g.33446576T>CCA363636784SYNGAP1,SYNGAP1-AS1c.3326T>C (p.Val1109Ala)
c.3584T>C (p.Val1195Ala)
c.3541-5T>C (n.3541-5T>C)
c.3407T>C (p.Val1136Ala)
c.3539T>C (p.Val1180Ala)
n.329+30A>G
6g.33446576T>GCA363636785SYNGAP1,SYNGAP1-AS1c.3326T>G (p.Val1109Gly)
c.3584T>G (p.Val1195Gly)
c.3541-5T>G (n.3541-5T>G)
c.3407T>G (p.Val1136Gly)
c.3539T>G (p.Val1180Gly)
n.329+30A>C
6g.33446577G>ACA449839599SYNGAP1,SYNGAP1-AS1c.3327G>A (p.Val1109=)
c.3585G>A (p.Val1195=)
c.3541-4G>A (n.3541-4G>A)
c.3408G>A (p.Val1136=)
c.3540G>A (p.Val1180=)
n.329+29C>T
 dbSNP gnomAD v3 gnomAD v4
6g.33446577G>CCA449839601SYNGAP1,SYNGAP1-AS1c.3327G>C (p.Val1109=)
c.3585G>C (p.Val1195=)
c.3541-4G>C (n.3541-4G>C)
c.3408G>C (p.Val1136=)
c.3540G>C (p.Val1180=)
n.329+29C>G
6g.33446577G=CA1620016790SYNGAP1,SYNGAP1-AS1c.3327G= (p.Val1109=)
c.3585G= (p.Val1195=)
c.3541-4G= (n.3541-4G=)
c.3408G= (p.Val1136=)
c.3540G= (p.Val1180=)
n.329+29C=
6g.33446577G>TCA449839602SYNGAP1,SYNGAP1-AS1c.3327G>T (p.Val1109=)
c.3585G>T (p.Val1195=)
c.3541-4G>T (n.3541-4G>T)
c.3408G>T (p.Val1136=)
c.3540G>T (p.Val1180=)
n.329+29C>A
6g.33446578A=CA1620016794SYNGAP1,SYNGAP1-AS1c.3328A= (p.Lys1110=)
c.3586A= (p.Lys1196=)
c.3541-3A= (n.3541-3A=)
c.3409A= (p.Lys1137=)
c.3541A= (p.Lys1181=)
n.329+28T=
6g.33446578A>CCA363636789SYNGAP1,SYNGAP1-AS1c.3328A>C (p.Lys1110Gln)
c.3586A>C (p.Lys1196Gln)
c.3541-3A>C (n.3541-3A>C)
c.3409A>C (p.Lys1137Gln)
c.3541A>C (p.Lys1181Gln)
n.329+28T>G
6g.33446578A>GCA363636791SYNGAP1,SYNGAP1-AS1c.3328A>G (p.Lys1110Glu)
c.3586A>G (p.Lys1196Glu)
c.3541-3A>G (n.3541-3A>G)
c.3409A>G (p.Lys1137Glu)
c.3541A>G (p.Lys1181Glu)
n.329+28T>C
6g.33446578A>TCA363636787SYNGAP1,SYNGAP1-AS1c.3328A>T (p.Lys1110Ter)
c.3586A>T (p.Lys1196Ter)
c.3541-3A>T (n.3541-3A>T)
c.3409A>T (p.Lys1137Ter)
c.3541A>T (p.Lys1181Ter)
n.329+28T>A
 dbSNP
6g.33446579dupCA1139659352SYNGAP1,SYNGAP1-AS1c.3329dup (p.Glu1111GlyfsTer24)
c.3587dup (p.Glu1197GlyfsTer24)
c.3541-2dup (n.3541-2dup)
c.3410dup (p.Glu1138GlyfsTer24)
c.3542dup (p.Glu1182GlyfsTer24)
n.329+28dup
 ClinVar dbSNP
6g.33446579A>CCA363636795SYNGAP1,SYNGAP1-AS1c.3329A>C (p.Lys1110Thr)
c.3587A>C (p.Lys1196Thr)
c.3541-2A>C (n.3541-2A>C)
c.3410A>C (p.Lys1137Thr)
c.3542A>C (p.Lys1181Thr)
n.329+27T>G
6g.33446579A>GCA363636792SYNGAP1,SYNGAP1-AS1c.3329A>G (p.Lys1110Arg)
c.3587A>G (p.Lys1196Arg)
c.3541-2A>G (n.3541-2A>G)
c.3410A>G (p.Lys1137Arg)
c.3542A>G (p.Lys1181Arg)
n.329+27T>C
6g.33446579A>TCA363636797SYNGAP1,SYNGAP1-AS1c.3329A>T (p.Lys1110Met)
c.3587A>T (p.Lys1196Met)
c.3541-2A>T (n.3541-2A>T)
c.3410A>T (p.Lys1137Met)
c.3542A>T (p.Lys1181Met)
n.329+27T>A
6g.33446580G>ACA363636798SYNGAP1,SYNGAP1-AS1c.3330G>A (p.Lys1110=)
c.3588G>A (p.Lys1196=)
c.3541-1G>A (n.3541-1G>A)
c.3411G>A (p.Lys1137=)
c.3543G>A (p.Lys1181=)
n.329+26C>T
6g.33446580G>CCA363636801SYNGAP1,SYNGAP1-AS1c.3330G>C (p.Lys1110Asn)
c.3588G>C (p.Lys1196Asn)
c.3541-1G>C (n.3541-1G>C)
c.3411G>C (p.Lys1137Asn)
c.3543G>C (p.Lys1181Asn)
n.329+26C>G
6g.33446580G>TCA363636799SYNGAP1,SYNGAP1-AS1c.3330G>T (p.Lys1110Asn)
c.3588G>T (p.Lys1196Asn)
c.3541-1G>T (n.3541-1G>T)
c.3411G>T (p.Lys1137Asn)
c.3543G>T (p.Lys1181Asn)
n.329+26C>A
6g.33446581G>ACA363636804SYNGAP1,SYNGAP1-AS1c.3331G>A (p.Glu1111Lys)
c.3589G>A (p.Glu1197Lys)
c.3541G>A (p.Glu1181Lys)
c.3412G>A (p.Glu1138Lys)
c.3544G>A (p.Glu1182Lys)
n.329+25C>T
6g.33446581G>CCA363636805SYNGAP1,SYNGAP1-AS1c.3331G>C (p.Glu1111Gln)
c.3589G>C (p.Glu1197Gln)
c.3541G>C (p.Glu1181Gln)
c.3412G>C (p.Glu1138Gln)
c.3544G>C (p.Glu1182Gln)
n.329+25C>G
6g.33446581G=CA1620016797SYNGAP1,SYNGAP1-AS1c.3331G= (p.Glu1111=)
c.3589G= (p.Glu1197=)
c.3541G= (p.Glu1181=)
c.3412G= (p.Glu1138=)
c.3544G= (p.Glu1182=)
n.329+25C=
6g.33446581G>TCA363636806SYNGAP1,SYNGAP1-AS1c.3331G>T (p.Glu1111Ter)
c.3589G>T (p.Glu1197Ter)
c.3541G>T (p.Glu1181Ter)
c.3412G>T (p.Glu1138Ter)
c.3544G>T (p.Glu1182Ter)
n.329+25C>A
 dbSNP
6g.33446582A>CCA363636808SYNGAP1,SYNGAP1-AS1c.3332A>C (p.Glu1111Ala)
c.3590A>C (p.Glu1197Ala)
c.3542A>C (p.Glu1181Ala)
c.3413A>C (p.Glu1138Ala)
c.3545A>C (p.Glu1182Ala)
n.329+24T>G
6g.33446582A>GCA363636810SYNGAP1,SYNGAP1-AS1c.3332A>G (p.Glu1111Gly)
c.3590A>G (p.Glu1197Gly)
c.3542A>G (p.Glu1181Gly)
c.3413A>G (p.Glu1138Gly)
c.3545A>G (p.Glu1182Gly)
n.329+24T>C
6g.33446582A>TCA363636812SYNGAP1,SYNGAP1-AS1c.3332A>T (p.Glu1111Val)
c.3590A>T (p.Glu1197Val)
c.3542A>T (p.Glu1181Val)
c.3413A>T (p.Glu1138Val)
c.3545A>T (p.Glu1182Val)
n.329+24T>A
6g.33446583G>ACA449839611SYNGAP1,SYNGAP1-AS1c.3333G>A (p.Glu1111=)
c.3591G>A (p.Glu1197=)
c.3543G>A (p.Glu1181=)
c.3414G>A (p.Glu1138=)
c.3546G>A (p.Glu1182=)
n.329+23C>T
6g.33446583G>CCA363636813SYNGAP1,SYNGAP1-AS1c.3333G>C (p.Glu1111Asp)
c.3591G>C (p.Glu1197Asp)
c.3543G>C (p.Glu1181Asp)
c.3414G>C (p.Glu1138Asp)
c.3546G>C (p.Glu1182Asp)
n.329+23C>G
6g.33446583G>TCA363636815SYNGAP1,SYNGAP1-AS1c.3333G>T (p.Glu1111Asp)
c.3591G>T (p.Glu1197Asp)
c.3543G>T (p.Glu1181Asp)
c.3414G>T (p.Glu1138Asp)
c.3546G>T (p.Glu1182Asp)
n.329+23C>A
6g.33446583_33446584delinsGTCA1620016801SYNGAP1,SYNGAP1-AS1c.3333_3334delinsGT (p.Glu1111=)
c.3591_3592delinsGT (p.Glu1197=)
c.3543_3544delinsGT (p.Glu1181=)
c.3414_3415delinsGT (p.Glu1138=)
c.3546_3547delinsGT (p.Glu1182=)
n.329+22_329+23delinsAC
6g.33446584delCA207942SYNGAP1,SYNGAP1-AS1c.3334del (p.Tyr1112ThrfsTer8)
c.3592del (p.Tyr1198ThrfsTer8)
c.3544del (p.Tyr1182ThrfsTer8)
c.3415del (p.Tyr1139ThrfsTer8)
c.3547del (p.Tyr1183ThrfsTer8)
n.329+22del
 ClinVar dbSNP
6g.33446584T>ACA363636818SYNGAP1,SYNGAP1-AS1c.3334T>A (p.Tyr1112Asn)
c.3592T>A (p.Tyr1198Asn)
c.3544T>A (p.Tyr1182Asn)
c.3415T>A (p.Tyr1139Asn)
c.3547T>A (p.Tyr1183Asn)
n.329+22A>T
6g.33446584T>CCA363636819SYNGAP1,SYNGAP1-AS1c.3334T>C (p.Tyr1112His)
c.3592T>C (p.Tyr1198His)
c.3544T>C (p.Tyr1182His)
c.3415T>C (p.Tyr1139His)
c.3547T>C (p.Tyr1183His)
n.329+22A>G
6g.33446584T>GCA363636820SYNGAP1,SYNGAP1-AS1c.3334T>G (p.Tyr1112Asp)
c.3592T>G (p.Tyr1198Asp)
c.3544T>G (p.Tyr1182Asp)
c.3415T>G (p.Tyr1139Asp)
c.3547T>G (p.Tyr1183Asp)
n.329+22A>C
6g.33446585A>CCA363636826SYNGAP1,SYNGAP1-AS1c.3335A>C (p.Tyr1112Ser)
c.3593A>C (p.Tyr1198Ser)
c.3545A>C (p.Tyr1182Ser)
c.3416A>C (p.Tyr1139Ser)
c.3548A>C (p.Tyr1183Ser)
n.329+21T>G
6g.33446585A>GCA363636823SYNGAP1,SYNGAP1-AS1c.3335A>G (p.Tyr1112Cys)
c.3593A>G (p.Tyr1198Cys)
c.3545A>G (p.Tyr1182Cys)
c.3416A>G (p.Tyr1139Cys)
c.3548A>G (p.Tyr1183Cys)
n.329+21T>C
6g.33446585A>TCA363636825SYNGAP1,SYNGAP1-AS1c.3335A>T (p.Tyr1112Phe)
c.3593A>T (p.Tyr1198Phe)
c.3545A>T (p.Tyr1182Phe)
c.3416A>T (p.Tyr1139Phe)
c.3548A>T (p.Tyr1183Phe)
n.329+21T>A
6g.33446586C>ACA363636830SYNGAP1,SYNGAP1-AS1c.3336C>A (p.Tyr1112Ter)
c.3594C>A (p.Tyr1198Ter)
c.3546C>A (p.Tyr1182Ter)
c.3417C>A (p.Tyr1139Ter)
c.3549C>A (p.Tyr1183Ter)
n.329+20G>T
6g.33446586C=CA1620016809SYNGAP1,SYNGAP1-AS1c.3336C= (p.Tyr1112=)
c.3594C= (p.Tyr1198=)
c.3546C= (p.Tyr1182=)
c.3417C= (p.Tyr1139=)
c.3549C= (p.Tyr1183=)
n.329+20G=
6g.33446586C>GCA363636833SYNGAP1,SYNGAP1-AS1c.3336C>G (p.Tyr1112Ter)
c.3594C>G (p.Tyr1198Ter)
c.3546C>G (p.Tyr1182Ter)
c.3417C>G (p.Tyr1139Ter)
c.3549C>G (p.Tyr1183Ter)
n.329+20G>C
 ClinVar dbSNP
6g.33446586C>TCA137075350SYNGAP1,SYNGAP1-AS1c.3336C>T (p.Tyr1112=)
c.3594C>T (p.Tyr1198=)
c.3546C>T (p.Tyr1182=)
c.3417C>T (p.Tyr1139=)
c.3549C>T (p.Tyr1183=)
n.329+20G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33446587G>ACA3759077SYNGAP1,SYNGAP1-AS1c.3337G>A (p.Glu1113Lys)
c.3595G>A (p.Glu1199Lys)
c.3547G>A (p.Glu1183Lys)
c.3418G>A (p.Glu1140Lys)
c.3550G>A (p.Glu1184Lys)
n.329+19C>T
 ClinVar dbSNP ExAC gnomAD v4
6g.33446587G>CCA363636838SYNGAP1,SYNGAP1-AS1c.3337G>C (p.Glu1113Gln)
c.3595G>C (p.Glu1199Gln)
c.3547G>C (p.Glu1183Gln)
c.3418G>C (p.Glu1140Gln)
c.3550G>C (p.Glu1184Gln)
n.329+19C>G
6g.33446587G=CA1620016812SYNGAP1,SYNGAP1-AS1c.3337G= (p.Glu1113=)
c.3595G= (p.Glu1199=)
c.3547G= (p.Glu1183=)
c.3418G= (p.Glu1140=)
c.3550G= (p.Glu1184=)
n.329+19C=
6g.33446587G>TCA363636840SYNGAP1,SYNGAP1-AS1c.3337G>T (p.Glu1113Ter)
c.3595G>T (p.Glu1199Ter)
c.3547G>T (p.Glu1183Ter)
c.3418G>T (p.Glu1140Ter)
c.3550G>T (p.Glu1184Ter)
n.329+19C>A
 dbSNP
6g.33446588A>CCA363636844SYNGAP1,SYNGAP1-AS1c.3338A>C (p.Glu1113Ala)
c.3596A>C (p.Glu1199Ala)
c.3548A>C (p.Glu1183Ala)
c.3419A>C (p.Glu1140Ala)
c.3551A>C (p.Glu1184Ala)
n.329+18T>G
6g.33446588A>GCA363636847SYNGAP1,SYNGAP1-AS1c.3338A>G (p.Glu1113Gly)
c.3596A>G (p.Glu1199Gly)
c.3548A>G (p.Glu1183Gly)
c.3419A>G (p.Glu1140Gly)
c.3551A>G (p.Glu1184Gly)
n.329+18T>C
6g.33446588A>TCA363636848SYNGAP1,SYNGAP1-AS1c.3338A>T (p.Glu1113Val)
c.3596A>T (p.Glu1199Val)
c.3548A>T (p.Glu1183Val)
c.3419A>T (p.Glu1140Val)
c.3551A>T (p.Glu1184Val)
n.329+18T>A
6g.33446589G>ACA449839613SYNGAP1,SYNGAP1-AS1c.3339G>A (p.Glu1113=)
c.3597G>A (p.Glu1199=)
c.3549G>A (p.Glu1183=)
c.3420G>A (p.Glu1140=)
c.3552G>A (p.Glu1184=)
n.329+17C>T
6g.33446589G>CCA363636849SYNGAP1,SYNGAP1-AS1c.3339G>C (p.Glu1113Asp)
c.3597G>C (p.Glu1199Asp)
c.3549G>C (p.Glu1183Asp)
c.3420G>C (p.Glu1140Asp)
c.3552G>C (p.Glu1184Asp)
n.329+17C>G
6g.33446589G>TCA363636850SYNGAP1,SYNGAP1-AS1c.3339G>T (p.Glu1113Asp)
c.3597G>T (p.Glu1199Asp)
c.3549G>T (p.Glu1183Asp)
c.3420G>T (p.Glu1140Asp)
c.3552G>T (p.Glu1184Asp)
n.329+17C>A
6g.33446590G>ACA363636854SYNGAP1,SYNGAP1-AS1c.3340G>A (p.Glu1114Lys)
c.3598G>A (p.Glu1200Lys)
c.3550G>A (p.Glu1184Lys)
c.3421G>A (p.Glu1141Lys)
c.3553G>A (p.Glu1185Lys)
n.329+16C>T
6g.33446590G>CCA363636852SYNGAP1,SYNGAP1-AS1c.3340G>C (p.Glu1114Gln)
c.3598G>C (p.Glu1200Gln)
c.3550G>C (p.Glu1184Gln)
c.3421G>C (p.Glu1141Gln)
c.3553G>C (p.Glu1185Gln)
n.329+16C>G
6g.33446590G=CA1620016815SYNGAP1,SYNGAP1-AS1c.3340G= (p.Glu1114=)
c.3598G= (p.Glu1200=)
c.3550G= (p.Glu1184=)
c.3421G= (p.Glu1141=)
c.3553G= (p.Glu1185=)
n.329+16C=
6g.33446590G>TCA363636851SYNGAP1,SYNGAP1-AS1c.3340G>T (p.Glu1114Ter)
c.3598G>T (p.Glu1200Ter)
c.3550G>T (p.Glu1184Ter)
c.3421G>T (p.Glu1141Ter)
c.3553G>T (p.Glu1185Ter)
n.329+16C>A
 dbSNP
6g.33446591A>CCA363636855SYNGAP1,SYNGAP1-AS1c.3341A>C (p.Glu1114Ala)
c.3599A>C (p.Glu1200Ala)
c.3551A>C (p.Glu1184Ala)
c.3422A>C (p.Glu1141Ala)
c.3554A>C (p.Glu1185Ala)
n.329+15T>G
6g.33446591A>GCA363636858SYNGAP1,SYNGAP1-AS1c.3341A>G (p.Glu1114Gly)
c.3599A>G (p.Glu1200Gly)
c.3551A>G (p.Glu1184Gly)
c.3422A>G (p.Glu1141Gly)
c.3554A>G (p.Glu1185Gly)
n.329+15T>C
6g.33446591A>TCA363636859SYNGAP1,SYNGAP1-AS1c.3341A>T (p.Glu1114Val)
c.3599A>T (p.Glu1200Val)
c.3551A>T (p.Glu1184Val)
c.3422A>T (p.Glu1141Val)
c.3554A>T (p.Glu1185Val)
n.329+15T>A
6g.33446591dupCA915944227SYNGAP1,SYNGAP1-AS1c.3341dup (p.Glu1115GlyfsTer20)
c.3599dup (p.Glu1201GlyfsTer20)
c.3551dup (p.Glu1185GlyfsTer20)
c.3422dup (p.Glu1142GlyfsTer20)
c.3554dup (p.Glu1186GlyfsTer20)
n.329+15dup
 ClinVar dbSNP
6g.33446592G>ACA449839614SYNGAP1,SYNGAP1-AS1c.3342G>A (p.Glu1114=)
c.3600G>A (p.Glu1200=)
c.3552G>A (p.Glu1184=)
c.3423G>A (p.Glu1141=)
c.3555G>A (p.Glu1185=)
n.329+14C>T
6g.33446592G>CCA363636862SYNGAP1,SYNGAP1-AS1c.3342G>C (p.Glu1114Asp)
c.3600G>C (p.Glu1200Asp)
c.3552G>C (p.Glu1184Asp)
c.3423G>C (p.Glu1141Asp)
c.3555G>C (p.Glu1185Asp)
n.329+14C>G
6g.33446592G>TCA363636863SYNGAP1,SYNGAP1-AS1c.3342G>T (p.Glu1114Asp)
c.3600G>T (p.Glu1200Asp)
c.3552G>T (p.Glu1184Asp)
c.3423G>T (p.Glu1141Asp)
c.3555G>T (p.Glu1185Asp)
n.329+14C>A
6g.33446593G>ACA363636868SYNGAP1,SYNGAP1-AS1c.3343G>A (p.Glu1115Lys)
c.3601G>A (p.Glu1201Lys)
c.3553G>A (p.Glu1185Lys)
c.3424G>A (p.Glu1142Lys)
c.3556G>A (p.Glu1186Lys)
n.329+13C>T
6g.33446593G>CCA363636871SYNGAP1,SYNGAP1-AS1c.3343G>C (p.Glu1115Gln)
c.3601G>C (p.Glu1201Gln)
c.3553G>C (p.Glu1185Gln)
c.3424G>C (p.Glu1142Gln)
c.3556G>C (p.Glu1186Gln)
n.329+13C>G
6g.33446593G=CA1620016821SYNGAP1,SYNGAP1-AS1c.3343G= (p.Glu1115=)
c.3601G= (p.Glu1201=)
c.3553G= (p.Glu1185=)
c.3424G= (p.Glu1142=)
c.3556G= (p.Glu1186=)
n.329+13C=
6g.33446593G>TCA363636872SYNGAP1,SYNGAP1-AS1c.3343G>T (p.Glu1115Ter)
c.3601G>T (p.Glu1201Ter)
c.3553G>T (p.Glu1185Ter)
c.3424G>T (p.Glu1142Ter)
c.3556G>T (p.Glu1186Ter)
n.329+13C>A
 dbSNP
6g.33446594A>CCA363636874SYNGAP1,SYNGAP1-AS1c.3344A>C (p.Glu1115Ala)
c.3602A>C (p.Glu1201Ala)
c.3554A>C (p.Glu1185Ala)
c.3425A>C (p.Glu1142Ala)
c.3557A>C (p.Glu1186Ala)
n.329+12T>G
6g.33446594A>GCA363636875SYNGAP1,SYNGAP1-AS1c.3344A>G (p.Glu1115Gly)
c.3602A>G (p.Glu1201Gly)
c.3554A>G (p.Glu1185Gly)
c.3425A>G (p.Glu1142Gly)
c.3557A>G (p.Glu1186Gly)
n.329+12T>C
6g.33446594A>TCA363636878SYNGAP1,SYNGAP1-AS1c.3344A>T (p.Glu1115Val)
c.3602A>T (p.Glu1201Val)
c.3554A>T (p.Glu1185Val)
c.3425A>T (p.Glu1142Val)
c.3557A>T (p.Glu1186Val)
n.329+12T>A
6g.33446595G>ACA3759078SYNGAP1,SYNGAP1-AS1c.3345G>A (p.Glu1115=)
c.3603G>A (p.Glu1201=)
c.3555G>A (p.Glu1185=)
c.3426G>A (p.Glu1142=)
c.3558G>A (p.Glu1186=)
n.329+11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446595G>CCA363636882SYNGAP1,SYNGAP1-AS1c.3345G>C (p.Glu1115Asp)
c.3603G>C (p.Glu1201Asp)
c.3555G>C (p.Glu1185Asp)
c.3426G>C (p.Glu1142Asp)
c.3558G>C (p.Glu1186Asp)
n.329+11C>G
6g.33446595G=CA1620016825SYNGAP1,SYNGAP1-AS1c.3345G= (p.Glu1115=)
c.3603G= (p.Glu1201=)
c.3555G= (p.Glu1185=)
c.3426G= (p.Glu1142=)
c.3558G= (p.Glu1186=)
n.329+11C=
6g.33446595G>TCA363636880SYNGAP1,SYNGAP1-AS1c.3345G>T (p.Glu1115Asp)
c.3603G>T (p.Glu1201Asp)
c.3555G>T (p.Glu1185Asp)
c.3426G>T (p.Glu1142Asp)
c.3558G>T (p.Glu1186Asp)
n.329+11C>A
6g.33446596A>CCA363636888SYNGAP1,SYNGAP1-AS1c.3346A>C (p.Ile1116Leu)
c.3604A>C (p.Ile1202Leu)
c.3556A>C (p.Ile1186Leu)
c.3427A>C (p.Ile1143Leu)
c.3559A>C (p.Ile1187Leu)
n.329+10T>G
6g.33446596A>GCA363636889SYNGAP1,SYNGAP1-AS1c.3346A>G (p.Ile1116Val)
c.3604A>G (p.Ile1202Val)
c.3556A>G (p.Ile1186Val)
c.3427A>G (p.Ile1143Val)
c.3559A>G (p.Ile1187Val)
n.329+10T>C
6g.33446596A>TCA363636892SYNGAP1,SYNGAP1-AS1c.3346A>T (p.Ile1116Phe)
c.3604A>T (p.Ile1202Phe)
c.3556A>T (p.Ile1186Phe)
c.3427A>T (p.Ile1143Phe)
c.3559A>T (p.Ile1187Phe)
n.329+10T>A
6g.33446596_33446597delinsATCA1620016828SYNGAP1,SYNGAP1-AS1c.3346_3347delinsAT (p.Ile1116=)
c.3604_3605delinsAT (p.Ile1202=)
c.3556_3557delinsAT (p.Ile1186=)
c.3427_3428delinsAT (p.Ile1143=)
c.3559_3560delinsAT (p.Ile1187=)
n.329+9_329+10delinsAT
6g.33446597T>ACA363636894SYNGAP1,SYNGAP1-AS1c.3347T>A (p.Ile1116Asn)
c.3605T>A (p.Ile1202Asn)
c.3557T>A (p.Ile1186Asn)
c.3428T>A (p.Ile1143Asn)
c.3560T>A (p.Ile1187Asn)
n.329+9A>T
6g.33446597T>CCA363636896SYNGAP1,SYNGAP1-AS1c.3347T>C (p.Ile1116Thr)
c.3605T>C (p.Ile1202Thr)
c.3557T>C (p.Ile1186Thr)
c.3428T>C (p.Ile1143Thr)
c.3560T>C (p.Ile1187Thr)
n.329+9A>G
6g.33446597T>GCA363636897SYNGAP1,SYNGAP1-AS1c.3347T>G (p.Ile1116Ser)
c.3605T>G (p.Ile1202Ser)
c.3557T>G (p.Ile1186Ser)
c.3428T>G (p.Ile1143Ser)
c.3560T>G (p.Ile1187Ser)
n.329+9A>C
6g.33446598delCA1139659353SYNGAP1,SYNGAP1-AS1c.3348del (p.His1117ThrfsTer3)
c.3606del (p.His1203ThrfsTer3)
c.3558del (p.His1187ThrfsTer3)
c.3429del (p.His1144ThrfsTer3)
c.3561del (p.His1188ThrfsTer3)
n.329+9del
 ClinVar dbSNP
6g.33446598T>ACA449839615SYNGAP1,SYNGAP1-AS1c.3348T>A (p.Ile1116=)
c.3606T>A (p.Ile1202=)
c.3558T>A (p.Ile1186=)
c.3429T>A (p.Ile1143=)
c.3561T>A (p.Ile1187=)
n.329+8A>T
6g.33446598T>CCA449839616SYNGAP1,SYNGAP1-AS1c.3348T>C (p.Ile1116=)
c.3606T>C (p.Ile1202=)
c.3558T>C (p.Ile1186=)
c.3429T>C (p.Ile1143=)
c.3561T>C (p.Ile1187=)
n.329+8A>G
6g.33446598T>GCA363636898SYNGAP1,SYNGAP1-AS1c.3348T>G (p.Ile1116Met)
c.3606T>G (p.Ile1202Met)
c.3558T>G (p.Ile1186Met)
c.3429T>G (p.Ile1143Met)
c.3561T>G (p.Ile1187Met)
n.329+8A>C
6g.33446599C>ACA363636901SYNGAP1,SYNGAP1-AS1c.3349C>A (p.His1117Asn)
c.3607C>A (p.His1203Asn)
c.3559C>A (p.His1187Asn)
c.3430C>A (p.His1144Asn)
c.3562C>A (p.His1188Asn)
n.329+7G>T
6g.33446599C=CA1620016837SYNGAP1,SYNGAP1-AS1c.3349C= (p.His1117=)
c.3607C= (p.His1203=)
c.3559C= (p.His1187=)
c.3430C= (p.His1144=)
c.3562C= (p.His1188=)
n.329+7G=
6g.33446599C>GCA363636904SYNGAP1,SYNGAP1-AS1c.3349C>G (p.His1117Asp)
c.3607C>G (p.His1203Asp)
c.3559C>G (p.His1187Asp)
c.3430C>G (p.His1144Asp)
c.3562C>G (p.His1188Asp)
n.329+7G>C
 ClinVar dbSNP
6g.33446599C>TCA363636906SYNGAP1,SYNGAP1-AS1c.3349C>T (p.His1117Tyr)
c.3607C>T (p.His1203Tyr)
c.3559C>T (p.His1187Tyr)
c.3430C>T (p.His1144Tyr)
c.3562C>T (p.His1188Tyr)
n.329+7G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33446600A>CCA363636909SYNGAP1,SYNGAP1-AS1c.3350A>C (p.His1117Pro)
c.3608A>C (p.His1203Pro)
c.3560A>C (p.His1187Pro)
c.3431A>C (p.His1144Pro)
c.3563A>C (p.His1188Pro)
n.329+6T>G
6g.33446600A>GCA363636910SYNGAP1,SYNGAP1-AS1c.3350A>G (p.His1117Arg)
c.3608A>G (p.His1203Arg)
c.3560A>G (p.His1187Arg)
c.3431A>G (p.His1144Arg)
c.3563A>G (p.His1188Arg)
n.329+6T>C
6g.33446600A>TCA363636912SYNGAP1,SYNGAP1-AS1c.3350A>T (p.His1117Leu)
c.3608A>T (p.His1203Leu)
c.3560A>T (p.His1187Leu)
c.3431A>T (p.His1144Leu)
c.3563A>T (p.His1188Leu)
n.329+6T>A
6g.33446601C>ACA363636917SYNGAP1,SYNGAP1-AS1c.3351C>A (p.His1117Gln)
c.3609C>A (p.His1203Gln)
c.3561C>A (p.His1187Gln)
c.3432C>A (p.His1144Gln)
c.3564C>A (p.His1188Gln)
n.329+5G>T
6g.33446601C>GCA363636914SYNGAP1,SYNGAP1-AS1c.3351C>G (p.His1117Gln)
c.3609C>G (p.His1203Gln)
c.3561C>G (p.His1187Gln)
c.3432C>G (p.His1144Gln)
c.3564C>G (p.His1188Gln)
n.329+5G>C
6g.33446601C>TCA449839617SYNGAP1,SYNGAP1-AS1c.3351C>T (p.His1117=)
c.3609C>T (p.His1203=)
c.3561C>T (p.His1187=)
c.3432C>T (p.His1144=)
c.3564C>T (p.His1188=)
n.329+5G>A
 gnomAD v4
6g.33446602T>ACA363636921SYNGAP1,SYNGAP1-AS1c.3352T>A (p.Ser1118Thr)
c.3610T>A (p.Ser1204Thr)
c.3562T>A (p.Ser1188Thr)
c.3433T>A (p.Ser1145Thr)
c.3565T>A (p.Ser1189Thr)
n.329+4A>T
6g.33446602T>CCA363636926SYNGAP1,SYNGAP1-AS1c.3352T>C (p.Ser1118Pro)
c.3610T>C (p.Ser1204Pro)
c.3562T>C (p.Ser1188Pro)
c.3433T>C (p.Ser1145Pro)
c.3565T>C (p.Ser1189Pro)
n.329+4A>G
6g.33446602T>GCA363636924SYNGAP1,SYNGAP1-AS1c.3352T>G (p.Ser1118Ala)
c.3610T>G (p.Ser1204Ala)
c.3562T>G (p.Ser1188Ala)
c.3433T>G (p.Ser1145Ala)
c.3565T>G (p.Ser1189Ala)
n.329+4A>C
6g.33446603C>ACA363636929SYNGAP1,SYNGAP1-AS1c.3353C>A (p.Ser1118Ter)
c.3611C>A (p.Ser1204Ter)
c.3563C>A (p.Ser1188Ter)
c.3434C>A (p.Ser1145Ter)
c.3566C>A (p.Ser1189Ter)
n.329+3G>T
6g.33446603C>GCA363636932SYNGAP1,SYNGAP1-AS1c.3353C>G (p.Ser1118Ter)
c.3611C>G (p.Ser1204Ter)
c.3563C>G (p.Ser1188Ter)
c.3434C>G (p.Ser1145Ter)
c.3566C>G (p.Ser1189Ter)
n.329+3G>C
6g.33446603C>TCA363636934SYNGAP1,SYNGAP1-AS1c.3353C>T (p.Ser1118Leu)
c.3611C>T (p.Ser1204Leu)
c.3563C>T (p.Ser1188Leu)
c.3434C>T (p.Ser1145Leu)
c.3566C>T (p.Ser1189Leu)
n.329+3G>A
 gnomAD v4
6g.33446604A>CCA449839618SYNGAP1,SYNGAP1-AS1c.3354A>C (p.Ser1118=)
c.3612A>C (p.Ser1204=)
c.3564A>C (p.Ser1188=)
c.3435A>C (p.Ser1145=)
c.3567A>C (p.Ser1189=)
n.329+2T>G
6g.33446604A>GCA449839619SYNGAP1,SYNGAP1-AS1c.3354A>G (p.Ser1118=)
c.3612A>G (p.Ser1204=)
c.3564A>G (p.Ser1188=)
c.3435A>G (p.Ser1145=)
c.3567A>G (p.Ser1189=)
n.329+2T>C
6g.33446604A>TCA449839620SYNGAP1,SYNGAP1-AS1c.3354A>T (p.Ser1118=)
c.3612A>T (p.Ser1204=)
c.3564A>T (p.Ser1188=)
c.3435A>T (p.Ser1145=)
c.3567A>T (p.Ser1189=)
n.329+2T>A
6g.33446605C>ACA363636935SYNGAP1,SYNGAP1-AS1c.3355C>A (p.Leu1119Met)
c.3613C>A (p.Leu1205Met)
c.3565C>A (p.Leu1189Met)
c.3436C>A (p.Leu1146Met)
c.3568C>A (p.Leu1190Met)
n.329+1G>T
6g.33446605C>GCA363636937SYNGAP1,SYNGAP1-AS1c.3355C>G (p.Leu1119Val)
c.3613C>G (p.Leu1205Val)
c.3565C>G (p.Leu1189Val)
c.3436C>G (p.Leu1146Val)
c.3568C>G (p.Leu1190Val)
n.329+1G>C
6g.33446605C>TCA449839621SYNGAP1,SYNGAP1-AS1c.3355C>T (p.Leu1119=)
c.3613C>T (p.Leu1205=)
c.3565C>T (p.Leu1189=)
c.3436C>T (p.Leu1146=)
c.3568C>T (p.Leu1190=)
n.329+1G>A
6g.33446606T>ACA363636939SYNGAP1,SYNGAP1-AS1c.3356T>A (p.Leu1119Gln)
c.3614T>A (p.Leu1205Gln)
c.3566T>A (p.Leu1189Gln)
c.3437T>A (p.Leu1146Gln)
c.3569T>A (p.Leu1190Gln)
n.329A>T
6g.33446606T>CCA363636941SYNGAP1,SYNGAP1-AS1c.3356T>C (p.Leu1119Pro)
c.3614T>C (p.Leu1205Pro)
c.3566T>C (p.Leu1189Pro)
c.3437T>C (p.Leu1146Pro)
c.3569T>C (p.Leu1190Pro)
n.329A>G
6g.33446606T>GCA363636944SYNGAP1,SYNGAP1-AS1c.3356T>G (p.Leu1119Arg)
c.3614T>G (p.Leu1205Arg)
c.3566T>G (p.Leu1189Arg)
c.3437T>G (p.Leu1146Arg)
c.3569T>G (p.Leu1190Arg)
n.329A>C
6g.33446607G>ACA449839622SYNGAP1,SYNGAP1-AS1c.3357G>A (p.Leu1119=)
c.3615G>A (p.Leu1205=)
c.3567G>A (p.Leu1189=)
c.3438G>A (p.Leu1146=)
c.3570G>A (p.Leu1190=)
n.328C>T
 gnomAD v4
6g.33446607G>CCA449839623SYNGAP1,SYNGAP1-AS1c.3357G>C (p.Leu1119=)
c.3615G>C (p.Leu1205=)
c.3567G>C (p.Leu1189=)
c.3438G>C (p.Leu1146=)
c.3570G>C (p.Leu1190=)
n.328C>G
6g.33446607G>TCA449839624SYNGAP1,SYNGAP1-AS1c.3357G>T (p.Leu1119=)
c.3615G>T (p.Leu1205=)
c.3567G>T (p.Leu1189=)
c.3438G>T (p.Leu1146=)
c.3570G>T (p.Leu1190=)
n.328C>A
6g.33446608A=CA1620016840SYNGAP1,SYNGAP1-AS1c.3358A= (p.Lys1120=)
c.3616A= (p.Lys1206=)
c.3568A= (p.Lys1190=)
c.3439A= (p.Lys1147=)
c.3571A= (p.Lys1191=)
n.327T=
6g.33446608A>CCA363636947SYNGAP1,SYNGAP1-AS1c.3358A>C (p.Lys1120Gln)
c.3616A>C (p.Lys1206Gln)
c.3568A>C (p.Lys1190Gln)
c.3439A>C (p.Lys1147Gln)
c.3571A>C (p.Lys1191Gln)
n.327T>G
6g.33446608A>GCA363636949SYNGAP1,SYNGAP1-AS1c.3358A>G (p.Lys1120Glu)
c.3616A>G (p.Lys1206Glu)
c.3568A>G (p.Lys1190Glu)
c.3439A>G (p.Lys1147Glu)
c.3571A>G (p.Lys1191Glu)
n.327T>C
6g.33446608A>TCA363636951SYNGAP1,SYNGAP1-AS1c.3358A>T (p.Lys1120Ter)
c.3616A>T (p.Lys1206Ter)
c.3568A>T (p.Lys1190Ter)
c.3439A>T (p.Lys1147Ter)
c.3571A>T (p.Lys1191Ter)
n.327T>A
 dbSNP
6g.33446610dupCA2695206229SYNGAP1,SYNGAP1-AS1c.3360dup (p.Glu1121ArgfsTer14)
c.3618dup (p.Glu1207ArgfsTer14)
c.3570dup (p.Glu1191ArgfsTer14)
c.3441dup (p.Glu1148ArgfsTer14)
c.3573dup (p.Glu1192ArgfsTer14)
n.327dup
6g.33446609A>CCA363636958SYNGAP1,SYNGAP1-AS1c.3359A>C (p.Lys1120Thr)
c.3617A>C (p.Lys1206Thr)
c.3569A>C (p.Lys1190Thr)
c.3440A>C (p.Lys1147Thr)
c.3572A>C (p.Lys1191Thr)
n.326T>G
6g.33446609A>GCA363636956SYNGAP1,SYNGAP1-AS1c.3359A>G (p.Lys1120Arg)
c.3617A>G (p.Lys1206Arg)
c.3569A>G (p.Lys1190Arg)
c.3440A>G (p.Lys1147Arg)
c.3572A>G (p.Lys1191Arg)
n.326T>C
6g.33446609A>TCA363636953SYNGAP1,SYNGAP1-AS1c.3359A>T (p.Lys1120Ile)
c.3617A>T (p.Lys1206Ile)
c.3569A>T (p.Lys1190Ile)
c.3440A>T (p.Lys1147Ile)
c.3572A>T (p.Lys1191Ile)
n.326T>A
6g.33446610A=CA1620016844SYNGAP1,SYNGAP1-AS1c.3360A= (p.Lys1120=)
c.3618A= (p.Lys1206=)
c.3570A= (p.Lys1190=)
c.3441A= (p.Lys1147=)
c.3573A= (p.Lys1191=)
n.325T=
6g.33446610A>CCA363636960SYNGAP1,SYNGAP1-AS1c.3360A>C (p.Lys1120Asn)
c.3618A>C (p.Lys1206Asn)
c.3570A>C (p.Lys1190Asn)
c.3441A>C (p.Lys1147Asn)
c.3573A>C (p.Lys1191Asn)
n.325T>G
6g.33446610A>GCA449839625SYNGAP1,SYNGAP1-AS1c.3360A>G (p.Lys1120=)
c.3618A>G (p.Lys1206=)
c.3570A>G (p.Lys1190=)
c.3441A>G (p.Lys1147=)
c.3573A>G (p.Lys1191=)
n.325T>C
 dbSNP
6g.33446610A>TCA363636963SYNGAP1,SYNGAP1-AS1c.3360A>T (p.Lys1120Asn)
c.3618A>T (p.Lys1206Asn)
c.3570A>T (p.Lys1190Asn)
c.3441A>T (p.Lys1147Asn)
c.3573A>T (p.Lys1191Asn)
n.325T>A
6g.33446611G>ACA363636965SYNGAP1,SYNGAP1-AS1c.3361G>A (p.Glu1121Lys)
c.3619G>A (p.Glu1207Lys)
c.3571G>A (p.Glu1191Lys)
c.3442G>A (p.Glu1148Lys)
c.3574G>A (p.Glu1192Lys)
n.324C>T
6g.33446611G>CCA363636968SYNGAP1,SYNGAP1-AS1c.3361G>C (p.Glu1121Gln)
c.3619G>C (p.Glu1207Gln)
c.3571G>C (p.Glu1191Gln)
c.3442G>C (p.Glu1148Gln)
c.3574G>C (p.Glu1192Gln)
n.324C>G
6g.33446611G=CA1620016846SYNGAP1,SYNGAP1-AS1c.3361G= (p.Glu1121=)
c.3619G= (p.Glu1207=)
c.3571G= (p.Glu1191=)
c.3442G= (p.Glu1148=)
c.3574G= (p.Glu1192=)
n.324C=
6g.33446611G>TCA363636970SYNGAP1,SYNGAP1-AS1c.3361G>T (p.Glu1121Ter)
c.3619G>T (p.Glu1207Ter)
c.3571G>T (p.Glu1191Ter)
c.3442G>T (p.Glu1148Ter)
c.3574G>T (p.Glu1192Ter)
n.324C>A
 dbSNP
6g.33446612A>CCA363636973SYNGAP1,SYNGAP1-AS1c.3362A>C (p.Glu1121Ala)
c.3620A>C (p.Glu1207Ala)
c.3572A>C (p.Glu1191Ala)
c.3443A>C (p.Glu1148Ala)
c.3575A>C (p.Glu1192Ala)
n.323T>G
6g.33446612A>GCA363636975SYNGAP1,SYNGAP1-AS1c.3362A>G (p.Glu1121Gly)
c.3620A>G (p.Glu1207Gly)
c.3572A>G (p.Glu1191Gly)
c.3443A>G (p.Glu1148Gly)
c.3575A>G (p.Glu1192Gly)
n.323T>C
6g.33446612A>TCA363636979SYNGAP1,SYNGAP1-AS1c.3362A>T (p.Glu1121Val)
c.3620A>T (p.Glu1207Val)
c.3572A>T (p.Glu1191Val)
c.3443A>T (p.Glu1148Val)
c.3575A>T (p.Glu1192Val)
n.323T>A
6g.33446613G>ACA449839626SYNGAP1,SYNGAP1-AS1c.3363G>A (p.Glu1121=)
c.3621G>A (p.Glu1207=)
c.3573G>A (p.Glu1191=)
c.3444G>A (p.Glu1148=)
c.3576G>A (p.Glu1192=)
n.322C>T
6g.33446613G>CCA363636980SYNGAP1,SYNGAP1-AS1c.3363G>C (p.Glu1121Asp)
c.3621G>C (p.Glu1207Asp)
c.3573G>C (p.Glu1191Asp)
c.3444G>C (p.Glu1148Asp)
c.3576G>C (p.Glu1192Asp)
n.322C>G
6g.33446613G>TCA363636982SYNGAP1,SYNGAP1-AS1c.3363G>T (p.Glu1121Asp)
c.3621G>T (p.Glu1207Asp)
c.3573G>T (p.Glu1191Asp)
c.3444G>T (p.Glu1148Asp)
c.3576G>T (p.Glu1192Asp)
n.322C>A
6g.33446614C>ACA449839627SYNGAP1,SYNGAP1-AS1c.3364C>A (p.Arg1122=)
c.3622C>A (p.Arg1208=)
c.3574C>A (p.Arg1192=)
c.3445C>A (p.Arg1149=)
c.3577C>A (p.Arg1193=)
n.321G>T
 gnomAD v4
6g.33446614C=CA1620016849SYNGAP1,SYNGAP1-AS1c.3364C= (p.Arg1122=)
c.3622C= (p.Arg1208=)
c.3574C= (p.Arg1192=)
c.3445C= (p.Arg1149=)
c.3577C= (p.Arg1193=)
n.321G=
6g.33446614C>GCA363636985SYNGAP1,SYNGAP1-AS1c.3364C>G (p.Arg1122Gly)
c.3622C>G (p.Arg1208Gly)
c.3574C>G (p.Arg1192Gly)
c.3445C>G (p.Arg1149Gly)
c.3577C>G (p.Arg1193Gly)
n.321G>C
6g.33446614C>TCA363636987SYNGAP1,SYNGAP1-AS1c.3364C>T (p.Arg1122Trp)
c.3622C>T (p.Arg1208Trp)
c.3574C>T (p.Arg1192Trp)
c.3445C>T (p.Arg1149Trp)
c.3577C>T (p.Arg1193Trp)
n.321G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33446615G>ACA363636996SYNGAP1,SYNGAP1-AS1c.3365G>A (p.Arg1122Gln)
c.3623G>A (p.Arg1208Gln)
c.3575G>A (p.Arg1192Gln)
c.3446G>A (p.Arg1149Gln)
c.3578G>A (p.Arg1193Gln)
n.320C>T
 COSMIC COSMIC
6g.33446615G>CCA363636993SYNGAP1,SYNGAP1-AS1c.3365G>C (p.Arg1122Pro)
c.3623G>C (p.Arg1208Pro)
c.3575G>C (p.Arg1192Pro)
c.3446G>C (p.Arg1149Pro)
c.3578G>C (p.Arg1193Pro)
n.320C>G
6g.33446615G>TCA363636990SYNGAP1,SYNGAP1-AS1c.3365G>T (p.Arg1122Leu)
c.3623G>T (p.Arg1208Leu)
c.3575G>T (p.Arg1192Leu)
c.3446G>T (p.Arg1149Leu)
c.3578G>T (p.Arg1193Leu)
n.320C>A
6g.33446616G>ACA449839628SYNGAP1,SYNGAP1-AS1c.3366G>A (p.Arg1122=)
c.3624G>A (p.Arg1208=)
c.3576G>A (p.Arg1192=)
c.3447G>A (p.Arg1149=)
c.3579G>A (p.Arg1193=)
n.319C>T
6g.33446616G>CCA449839629SYNGAP1,SYNGAP1-AS1c.3366G>C (p.Arg1122=)
c.3624G>C (p.Arg1208=)
c.3576G>C (p.Arg1192=)
c.3447G>C (p.Arg1149=)
c.3579G>C (p.Arg1193=)
n.319C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33446616G=CA1620016854SYNGAP1,SYNGAP1-AS1c.3366G= (p.Arg1122=)
c.3624G= (p.Arg1208=)
c.3576G= (p.Arg1192=)
c.3447G= (p.Arg1149=)
c.3579G= (p.Arg1193=)
n.319C=
6g.33446616G>TCA449839630SYNGAP1,SYNGAP1-AS1c.3366G>T (p.Arg1122=)
c.3624G>T (p.Arg1208=)
c.3576G>T (p.Arg1192=)
c.3447G>T (p.Arg1149=)
c.3579G>T (p.Arg1193=)
n.319C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33446617C>ACA363636998SYNGAP1,SYNGAP1-AS1c.3367C>A (p.Leu1123Met)
c.3625C>A (p.Leu1209Met)
c.3577C>A (p.Leu1193Met)
c.3448C>A (p.Leu1150Met)
c.3580C>A (p.Leu1194Met)
n.318G>T
6g.33446617C>GCA363636999SYNGAP1,SYNGAP1-AS1c.3367C>G (p.Leu1123Val)
c.3625C>G (p.Leu1209Val)
c.3577C>G (p.Leu1193Val)
c.3448C>G (p.Leu1150Val)
c.3580C>G (p.Leu1194Val)
n.318G>C
6g.33446617C>TCA449839631SYNGAP1,SYNGAP1-AS1c.3367C>T (p.Leu1123=)
c.3625C>T (p.Leu1209=)
c.3577C>T (p.Leu1193=)
c.3448C>T (p.Leu1150=)
c.3580C>T (p.Leu1194=)
n.318G>A
6g.33446618T>ACA363637002SYNGAP1,SYNGAP1-AS1c.3368T>A (p.Leu1123Gln)
c.3626T>A (p.Leu1209Gln)
c.3578T>A (p.Leu1193Gln)
c.3449T>A (p.Leu1150Gln)
c.3581T>A (p.Leu1194Gln)
n.317A>T
6g.33446618T>CCA363637005SYNGAP1,SYNGAP1-AS1c.3368T>C (p.Leu1123Pro)
c.3626T>C (p.Leu1209Pro)
c.3578T>C (p.Leu1193Pro)
c.3449T>C (p.Leu1150Pro)
c.3581T>C (p.Leu1194Pro)
n.317A>G
6g.33446618T>GCA363637007SYNGAP1,SYNGAP1-AS1c.3368T>G (p.Leu1123Arg)
c.3626T>G (p.Leu1209Arg)
c.3578T>G (p.Leu1193Arg)
c.3449T>G (p.Leu1150Arg)
c.3581T>G (p.Leu1194Arg)
n.317A>C
6g.33446619G>ACA449839632SYNGAP1,SYNGAP1-AS1c.3369G>A (p.Leu1123=)
c.3627G>A (p.Leu1209=)
c.3579G>A (p.Leu1193=)
c.3450G>A (p.Leu1150=)
c.3582G>A (p.Leu1194=)
n.316C>T
 dbSNP gnomAD v4
6g.33446619G>CCA449839633SYNGAP1,SYNGAP1-AS1c.3369G>C (p.Leu1123=)
c.3627G>C (p.Leu1209=)
c.3579G>C (p.Leu1193=)
c.3450G>C (p.Leu1150=)
c.3582G>C (p.Leu1194=)
n.316C>G
6g.33446619G=CA1620016858SYNGAP1,SYNGAP1-AS1c.3369G= (p.Leu1123=)
c.3627G= (p.Leu1209=)
c.3579G= (p.Leu1193=)
c.3450G= (p.Leu1150=)
c.3582G= (p.Leu1194=)
n.316C=
6g.33446619G>TCA449839634SYNGAP1,SYNGAP1-AS1c.3369G>T (p.Leu1123=)
c.3627G>T (p.Leu1209=)
c.3579G>T (p.Leu1193=)
c.3450G>T (p.Leu1150=)
c.3582G>T (p.Leu1194=)
n.316C>A
6g.33446620C>ACA363637011SYNGAP1,SYNGAP1-AS1c.3370C>A (p.His1124Asn)
c.3628C>A (p.His1210Asn)
c.3580C>A (p.His1194Asn)
c.3451C>A (p.His1151Asn)
c.3583C>A (p.His1195Asn)
n.315G>T
6g.33446620C>GCA363637013SYNGAP1,SYNGAP1-AS1c.3370C>G (p.His1124Asp)
c.3628C>G (p.His1210Asp)
c.3580C>G (p.His1194Asp)
c.3451C>G (p.His1151Asp)
c.3583C>G (p.His1195Asp)
n.315G>C
6g.33446620C>TCA363637016SYNGAP1,SYNGAP1-AS1c.3370C>T (p.His1124Tyr)
c.3628C>T (p.His1210Tyr)
c.3580C>T (p.His1194Tyr)
c.3451C>T (p.His1151Tyr)
c.3583C>T (p.His1195Tyr)
n.315G>A
6g.33446621A>CCA363637020SYNGAP1,SYNGAP1-AS1c.3371A>C (p.His1124Pro)
c.3629A>C (p.His1210Pro)
c.3581A>C (p.His1194Pro)
c.3452A>C (p.His1151Pro)
c.3584A>C (p.His1195Pro)
n.314T>G
6g.33446621A>GCA363637022SYNGAP1,SYNGAP1-AS1c.3371A>G (p.His1124Arg)
c.3629A>G (p.His1210Arg)
c.3581A>G (p.His1194Arg)
c.3452A>G (p.His1151Arg)
c.3584A>G (p.His1195Arg)
n.314T>C
6g.33446621A>TCA363637024SYNGAP1,SYNGAP1-AS1c.3371A>T (p.His1124Leu)
c.3629A>T (p.His1210Leu)
c.3581A>T (p.His1194Leu)
c.3452A>T (p.His1151Leu)
c.3584A>T (p.His1195Leu)
n.314T>A
6g.33446622C>ACA363637025SYNGAP1,SYNGAP1-AS1c.3372C>A (p.His1124Gln)
c.3630C>A (p.His1210Gln)
c.3582C>A (p.His1194Gln)
c.3453C>A (p.His1151Gln)
c.3585C>A (p.His1195Gln)
n.313G>T
6g.33446622C>GCA363637026SYNGAP1,SYNGAP1-AS1c.3372C>G (p.His1124Gln)
c.3630C>G (p.His1210Gln)
c.3582C>G (p.His1194Gln)
c.3453C>G (p.His1151Gln)
c.3585C>G (p.His1195Gln)
n.313G>C
6g.33446622C>TCA449839635SYNGAP1,SYNGAP1-AS1c.3372C>T (p.His1124=)
c.3630C>T (p.His1210=)
c.3582C>T (p.His1194=)
c.3453C>T (p.His1151=)
c.3585C>T (p.His1195=)
n.313G>A
 gnomAD v4
6g.33446623A=CA1620016859SYNGAP1,SYNGAP1-AS1c.3373A= (p.Met1125=)
c.3631A= (p.Met1211=)
c.3583A= (p.Met1195=)
c.3454A= (p.Met1152=)
c.3586A= (p.Met1196=)
n.312T=
6g.33446623A>CCA363637029SYNGAP1,SYNGAP1-AS1c.3373A>C (p.Met1125Leu)
c.3631A>C (p.Met1211Leu)
c.3583A>C (p.Met1195Leu)
c.3454A>C (p.Met1152Leu)
c.3586A>C (p.Met1196Leu)
n.312T>G
6g.33446623A>GCA3759079SYNGAP1,SYNGAP1-AS1c.3373A>G (p.Met1125Val)
c.3631A>G (p.Met1211Val)
c.3583A>G (p.Met1195Val)
c.3454A>G (p.Met1152Val)
c.3586A>G (p.Met1196Val)
n.312T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446623A>TCA363637027SYNGAP1,SYNGAP1-AS1c.3373A>T (p.Met1125Leu)
c.3631A>T (p.Met1211Leu)
c.3583A>T (p.Met1195Leu)
c.3454A>T (p.Met1152Leu)
c.3586A>T (p.Met1196Leu)
n.312T>A
6g.33446624delCA2499218232SYNGAP1,SYNGAP1-AS1c.3374del (p.Met1125SerfsTer24)
c.3632del (p.Met1211SerfsTer24)
c.3584del (p.Met1195SerfsTer24)
c.3455del (p.Met1152SerfsTer24)
c.3587del (p.Met1196SerfsTer24)
n.311del
 ClinVar dbSNP
6g.33446624T>ACA363637032SYNGAP1,SYNGAP1-AS1c.3374T>A (p.Met1125Lys)
c.3632T>A (p.Met1211Lys)
c.3584T>A (p.Met1195Lys)
c.3455T>A (p.Met1152Lys)
c.3587T>A (p.Met1196Lys)
n.311A>T
 ClinVar dbSNP
6g.33446624T>CCA363637033SYNGAP1,SYNGAP1-AS1c.3374T>C (p.Met1125Thr)
c.3632T>C (p.Met1211Thr)
c.3584T>C (p.Met1195Thr)
c.3455T>C (p.Met1152Thr)
c.3587T>C (p.Met1196Thr)
n.311A>G
6g.33446624T>GCA363637035SYNGAP1,SYNGAP1-AS1c.3374T>G (p.Met1125Arg)
c.3632T>G (p.Met1211Arg)
c.3584T>G (p.Met1195Arg)
c.3455T>G (p.Met1152Arg)
c.3587T>G (p.Met1196Arg)
n.311A>C
6g.33446624T=CA1620016862SYNGAP1,SYNGAP1-AS1c.3374T= (p.Met1125=)
c.3632T= (p.Met1211=)
c.3584T= (p.Met1195=)
c.3455T= (p.Met1152=)
c.3587T= (p.Met1196=)
n.311A=
6g.33446625G>ACA3759080SYNGAP1,SYNGAP1-AS1c.3375G>A (p.Met1125Ile)
c.3633G>A (p.Met1211Ile)
c.3585G>A (p.Met1195Ile)
c.3456G>A (p.Met1152Ile)
c.3588G>A (p.Met1196Ile)
n.310C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446625G>CCA363637037SYNGAP1,SYNGAP1-AS1c.3375G>C (p.Met1125Ile)
c.3633G>C (p.Met1211Ile)
c.3585G>C (p.Met1195Ile)
c.3456G>C (p.Met1152Ile)
c.3588G>C (p.Met1196Ile)
n.310C>G
6g.33446625G=CA1620016863SYNGAP1,SYNGAP1-AS1c.3375G= (p.Met1125=)
c.3633G= (p.Met1211=)
c.3585G= (p.Met1195=)
c.3456G= (p.Met1152=)
c.3588G= (p.Met1196=)
n.310C=
6g.33446625G>TCA363637039SYNGAP1,SYNGAP1-AS1c.3375G>T (p.Met1125Ile)
c.3633G>T (p.Met1211Ile)
c.3585G>T (p.Met1195Ile)
c.3456G>T (p.Met1152Ile)
c.3588G>T (p.Met1196Ile)
n.310C>A
6g.33446626T>ACA363637041SYNGAP1,SYNGAP1-AS1c.3376T>A (p.Ser1126Thr)
c.3634T>A (p.Ser1212Thr)
c.3586T>A (p.Ser1196Thr)
c.3457T>A (p.Ser1153Thr)
c.3589T>A (p.Ser1197Thr)
n.309A>T
6g.33446626T>CCA137075357SYNGAP1,SYNGAP1-AS1c.3376T>C (p.Ser1126Pro)
c.3634T>C (p.Ser1212Pro)
c.3586T>C (p.Ser1196Pro)
c.3457T>C (p.Ser1153Pro)
c.3589T>C (p.Ser1197Pro)
n.309A>G
 dbSNP
6g.33446626T>GCA363637044SYNGAP1,SYNGAP1-AS1c.3376T>G (p.Ser1126Ala)
c.3634T>G (p.Ser1212Ala)
c.3586T>G (p.Ser1196Ala)
c.3457T>G (p.Ser1153Ala)
c.3589T>G (p.Ser1197Ala)
n.309A>C
6g.33446626T=CA1620016865SYNGAP1,SYNGAP1-AS1c.3376T= (p.Ser1126=)
c.3634T= (p.Ser1212=)
c.3586T= (p.Ser1196=)
c.3457T= (p.Ser1153=)
c.3589T= (p.Ser1197=)
n.309A=
6g.33446627C>ACA363637047SYNGAP1,SYNGAP1-AS1c.3377C>A (p.Ser1126Tyr)
c.3635C>A (p.Ser1212Tyr)
c.3587C>A (p.Ser1196Tyr)
c.3458C>A (p.Ser1153Tyr)
c.3590C>A (p.Ser1197Tyr)
n.308G>T
6g.33446627C=CA1620016867SYNGAP1,SYNGAP1-AS1c.3377C= (p.Ser1126=)
c.3635C= (p.Ser1212=)
c.3587C= (p.Ser1196=)
c.3458C= (p.Ser1153=)
c.3590C= (p.Ser1197=)
n.308G=
6g.33446627C>GCA363637048SYNGAP1,SYNGAP1-AS1c.3377C>G (p.Ser1126Cys)
c.3635C>G (p.Ser1212Cys)
c.3587C>G (p.Ser1196Cys)
c.3458C>G (p.Ser1153Cys)
c.3590C>G (p.Ser1197Cys)
n.308G>C
6g.33446627C>TCA363637051SYNGAP1,SYNGAP1-AS1c.3377C>T (p.Ser1126Phe)
c.3635C>T (p.Ser1212Phe)
c.3587C>T (p.Ser1196Phe)
c.3458C>T (p.Ser1153Phe)
c.3590C>T (p.Ser1197Phe)
n.308G>A
 ClinVar dbSNP
6g.33446628C>ACA449839636SYNGAP1,SYNGAP1-AS1c.3378C>A (p.Ser1126=)
c.3636C>A (p.Ser1212=)
c.3588C>A (p.Ser1196=)
c.3459C>A (p.Ser1153=)
c.3591C>A (p.Ser1197=)
n.307G>T
6g.33446628C=CA1620016870SYNGAP1,SYNGAP1-AS1c.3378C= (p.Ser1126=)
c.3636C= (p.Ser1212=)
c.3588C= (p.Ser1196=)
c.3459C= (p.Ser1153=)
c.3591C= (p.Ser1197=)
n.307G=
6g.33446628C>GCA449839638SYNGAP1,SYNGAP1-AS1c.3378C>G (p.Ser1126=)
c.3636C>G (p.Ser1212=)
c.3588C>G (p.Ser1196=)
c.3459C>G (p.Ser1153=)
c.3591C>G (p.Ser1197=)
n.307G>C
6g.33446628C>TCA449839637SYNGAP1,SYNGAP1-AS1c.3378C>T (p.Ser1126=)
c.3636C>T (p.Ser1212=)
c.3588C>T (p.Ser1196=)
c.3459C>T (p.Ser1153=)
c.3591C>T (p.Ser1197=)
n.307G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33446629A>CCA363637056SYNGAP1,SYNGAP1-AS1c.3379A>C (p.Asn1127His)
c.3637A>C (p.Asn1213His)
c.3589A>C (p.Asn1197His)
c.3460A>C (p.Asn1154His)
c.3592A>C (p.Asn1198His)
n.306T>G
6g.33446629A>GCA363637057SYNGAP1,SYNGAP1-AS1c.3379A>G (p.Asn1127Asp)
c.3637A>G (p.Asn1213Asp)
c.3589A>G (p.Asn1197Asp)
c.3460A>G (p.Asn1154Asp)
c.3592A>G (p.Asn1198Asp)
n.306T>C
6g.33446629A>TCA363637054SYNGAP1,SYNGAP1-AS1c.3379A>T (p.Asn1127Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3589A>T (p.Asn1197Tyr)
c.3460A>T (p.Asn1154Tyr)
c.3592A>T (p.Asn1198Tyr)
n.306T>A
6g.33446630A=CA1620016873SYNGAP1,SYNGAP1-AS1c.3380A= (p.Asn1127=)
c.3638A= (p.Asn1213=)
c.3590A= (p.Asn1197=)
c.3461A= (p.Asn1154=)
c.3593A= (p.Asn1198=)
n.305T=
6g.33446630A>CCA137075361SYNGAP1,SYNGAP1-AS1c.3380A>C (p.Asn1127Thr)
c.3638A>C (p.Asn1213Thr)
c.3590A>C (p.Asn1197Thr)
c.3461A>C (p.Asn1154Thr)
c.3593A>C (p.Asn1198Thr)
n.305T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446630A>GCA3759081SYNGAP1,SYNGAP1-AS1c.3380A>G (p.Asn1127Ser)
c.3638A>G (p.Asn1213Ser)
c.3590A>G (p.Asn1197Ser)
c.3461A>G (p.Asn1154Ser)
c.3593A>G (p.Asn1198Ser)
n.305T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446630A>TCA363637062SYNGAP1,SYNGAP1-AS1c.3380A>T (p.Asn1127Ile)
c.3638A>T (p.Asn1213Ile)
c.3590A>T (p.Asn1197Ile)
c.3461A>T (p.Asn1154Ile)
c.3593A>T (p.Asn1198Ile)
n.305T>A
6g.33446631C>ACA363637063SYNGAP1,SYNGAP1-AS1c.3381C>A (p.Asn1127Lys)
c.3639C>A (p.Asn1213Lys)
c.3591C>A (p.Asn1197Lys)
c.3462C>A (p.Asn1154Lys)
c.3594C>A (p.Asn1198Lys)
n.304G>T
6g.33446631C>GCA363637065SYNGAP1,SYNGAP1-AS1c.3381C>G (p.Asn1127Lys)
c.3639C>G (p.Asn1213Lys)
c.3591C>G (p.Asn1197Lys)
c.3462C>G (p.Asn1154Lys)
c.3594C>G (p.Asn1198Lys)
n.304G>C
6g.33446631C>TCA449839639SYNGAP1,SYNGAP1-AS1c.3381C>T (p.Asn1127=)
c.3639C>T (p.Asn1213=)
c.3591C>T (p.Asn1197=)
c.3462C>T (p.Asn1154=)
c.3594C>T (p.Asn1198=)
n.304G>A
6g.33446632C>ACA449839640SYNGAP1,SYNGAP1-AS1c.3382C>A (p.Arg1128=)
c.3640C>A (p.Arg1214=)
c.3592C>A (p.Arg1198=)
c.3463C>A (p.Arg1155=)
c.3595C>A (p.Arg1199=)
n.303G>T
6g.33446632C>GCA363637068SYNGAP1,SYNGAP1-AS1c.3382C>G (p.Arg1128Gly)
c.3640C>G (p.Arg1214Gly)
c.3592C>G (p.Arg1198Gly)
c.3463C>G (p.Arg1155Gly)
c.3595C>G (p.Arg1199Gly)
n.303G>C
 gnomAD v4
6g.33446632C>TCA363637071SYNGAP1,SYNGAP1-AS1c.3382C>T (p.Arg1128Trp)
c.3640C>T (p.Arg1214Trp)
c.3592C>T (p.Arg1198Trp)
c.3463C>T (p.Arg1155Trp)
c.3595C>T (p.Arg1199Trp)
n.303G>A
 ClinVar dbSNP gnomAD v4
6g.33446632_33446633delinsCGCA1620016876SYNGAP1,SYNGAP1-AS1c.3382_3383delinsCG (p.Arg1128=)
c.3640_3641delinsCG (p.Arg1214=)
c.3592_3593delinsCG (p.Arg1198=)
c.3463_3464delinsCG (p.Arg1155=)
c.3595_3596delinsCG (p.Arg1199=)
n.302_303delinsCG
6g.33446633G>ACA3759082SYNGAP1,SYNGAP1-AS1c.3383G>A (p.Arg1128Gln)
c.3641G>A (p.Arg1214Gln)
c.3593G>A (p.Arg1198Gln)
c.3464G>A (p.Arg1155Gln)
c.3596G>A (p.Arg1199Gln)
n.302C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33446633G>CCA363637073SYNGAP1,SYNGAP1-AS1c.3383G>C (p.Arg1128Pro)
c.3641G>C (p.Arg1214Pro)
c.3593G>C (p.Arg1198Pro)
c.3464G>C (p.Arg1155Pro)
c.3596G>C (p.Arg1199Pro)
n.302C>G
6g.33446633G=CA1620016881SYNGAP1,SYNGAP1-AS1c.3383G= (p.Arg1128=)
c.3641G= (p.Arg1214=)
c.3593G= (p.Arg1198=)
c.3464G= (p.Arg1155=)
c.3596G= (p.Arg1199=)
n.302C=
6g.33446633G>TCA363637075SYNGAP1,SYNGAP1-AS1c.3383G>T (p.Arg1128Leu)
c.3641G>T (p.Arg1214Leu)
c.3593G>T (p.Arg1198Leu)
c.3464G>T (p.Arg1155Leu)
c.3596G>T (p.Arg1199Leu)
n.302C>A
6g.33446634delCA658796752SYNGAP1,SYNGAP1-AS1c.3384del (p.Lys1129SerfsTer20)
c.3642del (p.Lys1215SerfsTer20)
c.3594del (p.Lys1199SerfsTer20)
c.3465del (p.Lys1156SerfsTer20)
c.3597del (p.Lys1200SerfsTer20)
n.302del
 ClinVar dbSNP
6g.33446634G>ACA449839641SYNGAP1,SYNGAP1-AS1c.3384G>A (p.Arg1128=)
c.3642G>A (p.Arg1214=)
c.3594G>A (p.Arg1198=)
c.3465G>A (p.Arg1155=)
c.3597G>A (p.Arg1199=)
n.301C>T
6g.33446634G>CCA449839642SYNGAP1,SYNGAP1-AS1c.3384G>C (p.Arg1128=)
c.3642G>C (p.Arg1214=)
c.3594G>C (p.Arg1198=)
c.3465G>C (p.Arg1155=)
c.3597G>C (p.Arg1199=)
n.301C>G
 gnomAD v4
6g.33446634G>TCA449839643SYNGAP1,SYNGAP1-AS1c.3384G>T (p.Arg1128=)
c.3642G>T (p.Arg1214=)
c.3594G>T (p.Arg1198=)
c.3465G>T (p.Arg1155=)
c.3597G>T (p.Arg1199=)
n.301C>A
6g.33446635A=CA1620016886SYNGAP1,SYNGAP1-AS1c.3385A= (p.Lys1129=)
c.3643A= (p.Lys1215=)
c.3595A= (p.Lys1199=)
c.3466A= (p.Lys1156=)
c.3598A= (p.Lys1200=)
n.300T=
6g.33446635A>CCA363637077SYNGAP1,SYNGAP1-AS1c.3385A>C (p.Lys1129Gln)
c.3643A>C (p.Lys1215Gln)
c.3595A>C (p.Lys1199Gln)
c.3466A>C (p.Lys1156Gln)
c.3598A>C (p.Lys1200Gln)
n.300T>G
6g.33446635A>GCA363637079SYNGAP1,SYNGAP1-AS1c.3385A>G (p.Lys1129Glu)
c.3643A>G (p.Lys1215Glu)
c.3595A>G (p.Lys1199Glu)
c.3466A>G (p.Lys1156Glu)
c.3598A>G (p.Lys1200Glu)
n.300T>C
6g.33446635A>TCA363637080SYNGAP1,SYNGAP1-AS1c.3385A>T (p.Lys1129Ter)
c.3643A>T (p.Lys1215Ter)
c.3595A>T (p.Lys1199Ter)
c.3466A>T (p.Lys1156Ter)
c.3598A>T (p.Lys1200Ter)
n.300T>A
 dbSNP
6g.33446636A>CCA363637087SYNGAP1,SYNGAP1-AS1c.3386A>C (p.Lys1129Thr)
c.3644A>C (p.Lys1215Thr)
c.3596A>C (p.Lys1199Thr)
c.3467A>C (p.Lys1156Thr)
c.3599A>C (p.Lys1200Thr)
n.299T>G
6g.33446636A>GCA363637085SYNGAP1,SYNGAP1-AS1c.3386A>G (p.Lys1129Arg)
c.3644A>G (p.Lys1215Arg)
c.3596A>G (p.Lys1199Arg)
c.3467A>G (p.Lys1156Arg)
c.3599A>G (p.Lys1200Arg)
n.299T>C
6g.33446636A>TCA363637083SYNGAP1,SYNGAP1-AS1c.3386A>T (p.Lys1129Met)
c.3644A>T (p.Lys1215Met)
c.3596A>T (p.Lys1199Met)
c.3467A>T (p.Lys1156Met)
c.3599A>T (p.Lys1200Met)
n.299T>A
6g.33446637G>ACA449839644SYNGAP1,SYNGAP1-AS1c.3387G>A (p.Lys1129=)
c.3645G>A (p.Lys1215=)
c.3597G>A (p.Lys1199=)
c.3468G>A (p.Lys1156=)
c.3600G>A (p.Lys1200=)
n.298C>T
6g.33446637G>CCA363637088SYNGAP1,SYNGAP1-AS1c.3387G>C (p.Lys1129Asn)
c.3645G>C (p.Lys1215Asn)
c.3597G>C (p.Lys1199Asn)
c.3468G>C (p.Lys1156Asn)
c.3600G>C (p.Lys1200Asn)
n.298C>G
6g.33446637G>TCA363637090SYNGAP1,SYNGAP1-AS1c.3387G>T (p.Lys1129Asn)
c.3645G>T (p.Lys1215Asn)
c.3597G>T (p.Lys1199Asn)
c.3468G>T (p.Lys1156Asn)
c.3600G>T (p.Lys1200Asn)
n.298C>A
6g.33446638C>ACA363637093SYNGAP1,SYNGAP1-AS1c.3388C>A (p.Leu1130Met)
c.3646C>A (p.Leu1216Met)
c.3598C>A (p.Leu1200Met)
c.3469C>A (p.Leu1157Met)
c.3601C>A (p.Leu1201Met)
n.297G>T
6g.33446638C>GCA363637096SYNGAP1,SYNGAP1-AS1c.3388C>G (p.Leu1130Val)
c.3646C>G (p.Leu1216Val)
c.3598C>G (p.Leu1200Val)
c.3469C>G (p.Leu1157Val)
c.3601C>G (p.Leu1201Val)
n.297G>C
6g.33446638C>TCA449839645SYNGAP1,SYNGAP1-AS1c.3388C>T (p.Leu1130=)
c.3646C>T (p.Leu1216=)
c.3598C>T (p.Leu1200=)
c.3469C>T (p.Leu1157=)
c.3601C>T (p.Leu1201=)
n.297G>A
6g.33446639T>ACA363637099SYNGAP1,SYNGAP1-AS1c.3389T>A (p.Leu1130Gln)
c.3647T>A (p.Leu1216Gln)
c.3599T>A (p.Leu1200Gln)
c.3470T>A (p.Leu1157Gln)
c.3602T>A (p.Leu1201Gln)
n.296A>T
6g.33446639T>CCA363637100SYNGAP1,SYNGAP1-AS1c.3389T>C (p.Leu1130Pro)
c.3647T>C (p.Leu1216Pro)
c.3599T>C (p.Leu1200Pro)
c.3470T>C (p.Leu1157Pro)
c.3602T>C (p.Leu1201Pro)
n.296A>G
6g.33446639T>GCA363637103SYNGAP1,SYNGAP1-AS1c.3389T>G (p.Leu1130Arg)
c.3647T>G (p.Leu1216Arg)
c.3599T>G (p.Leu1200Arg)
c.3470T>G (p.Leu1157Arg)
c.3602T>G (p.Leu1201Arg)
n.296A>C
6g.33446640G>ACA449839646SYNGAP1,SYNGAP1-AS1c.3390G>A (p.Leu1130=)
c.3648G>A (p.Leu1216=)
c.3600G>A (p.Leu1200=)
c.3471G>A (p.Leu1157=)
c.3603G>A (p.Leu1201=)
n.295C>T
 dbSNP gnomAD v4
6g.33446640G>CCA449839647SYNGAP1,SYNGAP1-AS1c.3390G>C (p.Leu1130=)
c.3648G>C (p.Leu1216=)
c.3600G>C (p.Leu1200=)
c.3471G>C (p.Leu1157=)
c.3603G>C (p.Leu1201=)
n.295C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33446640G=CA1620016888SYNGAP1,SYNGAP1-AS1c.3390G= (p.Leu1130=)
c.3648G= (p.Leu1216=)
c.3600G= (p.Leu1200=)
c.3471G= (p.Leu1157=)
c.3603G= (p.Leu1201=)
n.295C=
6g.33446640G>TCA449839648SYNGAP1,SYNGAP1-AS1c.3390G>T (p.Leu1130=)
c.3648G>T (p.Leu1216=)
c.3600G>T (p.Leu1200=)
c.3471G>T (p.Leu1157=)
c.3603G>T (p.Leu1201=)
n.295C>A
6g.33446641G>ACA363637106SYNGAP1,SYNGAP1-AS1c.3391G>A (p.Glu1131Lys)
c.3649G>A (p.Glu1217Lys)
c.3601G>A (p.Glu1201Lys)
c.3472G>A (p.Glu1158Lys)
c.3604G>A (p.Glu1202Lys)
n.294C>T
6g.33446641G>CCA363637108SYNGAP1,SYNGAP1-AS1c.3391G>C (p.Glu1131Gln)
c.3649G>C (p.Glu1217Gln)
c.3601G>C (p.Glu1201Gln)
c.3472G>C (p.Glu1158Gln)
c.3604G>C (p.Glu1202Gln)
n.294C>G
6g.33446641G=CA1620016891SYNGAP1,SYNGAP1-AS1c.3391G= (p.Glu1131=)
c.3649G= (p.Glu1217=)
c.3601G= (p.Glu1201=)
c.3472G= (p.Glu1158=)
c.3604G= (p.Glu1202=)
n.294C=
6g.33446641G>TCA363637111SYNGAP1,SYNGAP1-AS1c.3391G>T (p.Glu1131Ter)
c.3649G>T (p.Glu1217Ter)
c.3601G>T (p.Glu1201Ter)
c.3472G>T (p.Glu1158Ter)
c.3604G>T (p.Glu1202Ter)
n.294C>A
 dbSNP
6g.33446642A=CA1620016895SYNGAP1,SYNGAP1-AS1c.3392A= (p.Glu1131=)
c.3650A= (p.Glu1217=)
c.3602A= (p.Glu1201=)
c.3473A= (p.Glu1158=)
c.3605A= (p.Glu1202=)
n.293T=
6g.33446642A>CCA363637114SYNGAP1,SYNGAP1-AS1c.3392A>C (p.Glu1131Ala)
c.3650A>C (p.Glu1217Ala)
c.3602A>C (p.Glu1201Ala)
c.3473A>C (p.Glu1158Ala)
c.3605A>C (p.Glu1202Ala)
n.293T>G
6g.33446642A>GCA363637116SYNGAP1,SYNGAP1-AS1c.3392A>G (p.Glu1131Gly)
c.3650A>G (p.Glu1217Gly)
c.3602A>G (p.Glu1201Gly)
c.3473A>G (p.Glu1158Gly)
c.3605A>G (p.Glu1202Gly)
n.293T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33446642A>TCA363637118SYNGAP1,SYNGAP1-AS1c.3392A>T (p.Glu1131Val)
c.3650A>T (p.Glu1217Val)
c.3602A>T (p.Glu1201Val)
c.3473A>T (p.Glu1158Val)
c.3605A>T (p.Glu1202Val)
n.293T>A
6g.33446643A>CCA363637120SYNGAP1,SYNGAP1-AS1c.3393A>C (p.Glu1131Asp)
c.3651A>C (p.Glu1217Asp)
c.3603A>C (p.Glu1201Asp)
c.3474A>C (p.Glu1158Asp)
c.3606A>C (p.Glu1202Asp)
n.292T>G
6g.33446643A>GCA449839649SYNGAP1,SYNGAP1-AS1c.3393A>G (p.Glu1131=)
c.3651A>G (p.Glu1217=)
c.3603A>G (p.Glu1201=)
c.3474A>G (p.Glu1158=)
c.3606A>G (p.Glu1202=)
n.292T>C
6g.33446643A>TCA363637123SYNGAP1,SYNGAP1-AS1c.3393A>T (p.Glu1131Asp)
c.3651A>T (p.Glu1217Asp)
c.3603A>T (p.Glu1201Asp)
c.3474A>T (p.Glu1158Asp)
c.3606A>T (p.Glu1202Asp)
n.292T>A
6g.33446644G>ACA363637129SYNGAP1,SYNGAP1-AS1c.3394G>A (p.Glu1132Lys)
c.3652G>A (p.Glu1218Lys)
c.3604G>A (p.Glu1202Lys)
c.3475G>A (p.Glu1159Lys)
c.3607G>A (p.Glu1203Lys)
n.291C>T
6g.33446644G>CCA363637130SYNGAP1,SYNGAP1-AS1c.3394G>C (p.Glu1132Gln)
c.3652G>C (p.Glu1218Gln)
c.3604G>C (p.Glu1202Gln)
c.3475G>C (p.Glu1159Gln)
c.3607G>C (p.Glu1203Gln)
n.291C>G
6g.33446644G=CA1620016899SYNGAP1,SYNGAP1-AS1c.3394G= (p.Glu1132=)
c.3652G= (p.Glu1218=)
c.3604G= (p.Glu1202=)
c.3475G= (p.Glu1159=)
c.3607G= (p.Glu1203=)
n.291C=
6g.33446644G>TCA363637126SYNGAP1,SYNGAP1-AS1c.3394G>T (p.Glu1132Ter)
c.3652G>T (p.Glu1218Ter)
c.3604G>T (p.Glu1202Ter)
c.3475G>T (p.Glu1159Ter)
c.3607G>T (p.Glu1203Ter)
n.291C>A
 dbSNP
6g.33446645A=CA1620016901SYNGAP1,SYNGAP1-AS1c.3395A= (p.Glu1132=)
c.3653A= (p.Glu1218=)
c.3605A= (p.Glu1202=)
c.3476A= (p.Glu1159=)
c.3608A= (p.Glu1203=)
n.290T=
6g.33446645A>CCA363637133SYNGAP1,SYNGAP1-AS1c.3395A>C (p.Glu1132Ala)
c.3653A>C (p.Glu1218Ala)
c.3605A>C (p.Glu1202Ala)
c.3476A>C (p.Glu1159Ala)
c.3608A>C (p.Glu1203Ala)
n.290T>G
6g.33446645A>GCA363637135SYNGAP1,SYNGAP1-AS1c.3395A>G (p.Glu1132Gly)
c.3653A>G (p.Glu1218Gly)
c.3605A>G (p.Glu1202Gly)
c.3476A>G (p.Glu1159Gly)
c.3608A>G (p.Glu1203Gly)
n.290T>C
6g.33446645A>TCA363637138SYNGAP1,SYNGAP1-AS1c.3395A>T (p.Glu1132Val)
c.3653A>T (p.Glu1218Val)
c.3605A>T (p.Glu1202Val)
c.3476A>T (p.Glu1159Val)
c.3608A>T (p.Glu1203Val)
n.290T>A
 ClinVar dbSNP
6g.33446646G>ACA449839650SYNGAP1,SYNGAP1-AS1c.3396G>A (p.Glu1132=)
c.3654G>A (p.Glu1218=)
c.3606G>A (p.Glu1202=)
c.3477G>A (p.Glu1159=)
c.3609G>A (p.Glu1203=)
n.289C>T
6g.33446646G>CCA3759083SYNGAP1,SYNGAP1-AS1c.3396G>C (p.Glu1132Asp)
c.3654G>C (p.Glu1218Asp)
c.3606G>C (p.Glu1202Asp)
c.3477G>C (p.Glu1159Asp)
c.3609G>C (p.Glu1203Asp)
n.289C>G
 dbSNP ExAC
6g.33446646G=CA1620016905SYNGAP1,SYNGAP1-AS1c.3396G= (p.Glu1132=)
c.3654G= (p.Glu1218=)
c.3606G= (p.Glu1202=)
c.3477G= (p.Glu1159=)
c.3609G= (p.Glu1203=)
n.289C=
6g.33446646G>TCA363637141SYNGAP1,SYNGAP1-AS1c.3396G>T (p.Glu1132Asp)
c.3654G>T (p.Glu1218Asp)
c.3606G>T (p.Glu1202Asp)
c.3477G>T (p.Glu1159Asp)
c.3609G>T (p.Glu1203Asp)
n.289C>A
6g.33446647T>ACA363637142SYNGAP1,SYNGAP1-AS1c.3397T>A (p.Tyr1133Asn)
c.3655T>A (p.Tyr1219Asn)
c.3607T>A (p.Tyr1203Asn)
c.3478T>A (p.Tyr1160Asn)
c.3610T>A (p.Tyr1204Asn)
n.288A>T
6g.33446647T>CCA363637145SYNGAP1,SYNGAP1-AS1c.3397T>C (p.Tyr1133His)
c.3655T>C (p.Tyr1219His)
c.3607T>C (p.Tyr1203His)
c.3478T>C (p.Tyr1160His)
c.3610T>C (p.Tyr1204His)
n.288A>G
 ClinVar
6g.33446647T>GCA363637148SYNGAP1,SYNGAP1-AS1c.3397T>G (p.Tyr1133Asp)
c.3655T>G (p.Tyr1219Asp)
c.3607T>G (p.Tyr1203Asp)
c.3478T>G (p.Tyr1160Asp)
c.3610T>G (p.Tyr1204Asp)
n.288A>C
6g.33446648A>CCA363637151SYNGAP1,SYNGAP1-AS1c.3398A>C (p.Tyr1133Ser)
c.3656A>C (p.Tyr1219Ser)
c.3608A>C (p.Tyr1203Ser)
c.3479A>C (p.Tyr1160Ser)
c.3611A>C (p.Tyr1204Ser)
n.287T>G
6g.33446648A>GCA363637153SYNGAP1,SYNGAP1-AS1c.3398A>G (p.Tyr1133Cys)
c.3656A>G (p.Tyr1219Cys)
c.3608A>G (p.Tyr1203Cys)
c.3479A>G (p.Tyr1160Cys)
c.3611A>G (p.Tyr1204Cys)
n.287T>C
6g.33446648A>TCA363637156SYNGAP1,SYNGAP1-AS1c.3398A>T (p.Tyr1133Phe)
c.3656A>T (p.Tyr1219Phe)
c.3608A>T (p.Tyr1203Phe)
c.3479A>T (p.Tyr1160Phe)
c.3611A>T (p.Tyr1204Phe)
n.287T>A
6g.33446649T>ACA363637158SYNGAP1,SYNGAP1-AS1c.3399T>A (p.Tyr1133Ter)
c.3657T>A (p.Tyr1219Ter)
c.3609T>A (p.Tyr1203Ter)
c.3480T>A (p.Tyr1160Ter)
c.3612T>A (p.Tyr1204Ter)
n.286A>T
6g.33446649T>CCA449839651SYNGAP1,SYNGAP1-AS1c.3399T>C (p.Tyr1133=)
c.3657T>C (p.Tyr1219=)
c.3609T>C (p.Tyr1203=)
c.3480T>C (p.Tyr1160=)
c.3612T>C (p.Tyr1204=)
n.286A>G
6g.33446649T>GCA363637160SYNGAP1,SYNGAP1-AS1c.3399T>G (p.Tyr1133Ter)
c.3657T>G (p.Tyr1219Ter)
c.3609T>G (p.Tyr1203Ter)
c.3480T>G (p.Tyr1160Ter)
c.3612T>G (p.Tyr1204Ter)
n.286A>C
6g.33446649_33446650delCA2695206230SYNGAP1,SYNGAP1-AS1c.3399_3400del (p.Tyr1133Ter)
c.3657_3658del (p.Tyr1219Ter)
c.3609_3610del (p.Tyr1203Ter)
c.3480_3481del (p.Tyr1160Ter)
c.3612_3613del (p.Tyr1204Ter)
n.285_286del
6g.33446650G>ACA363637165SYNGAP1,SYNGAP1-AS1c.3400G>A (p.Glu1134Lys)
c.3658G>A (p.Glu1220Lys)
c.3610G>A (p.Glu1204Lys)
c.3481G>A (p.Glu1161Lys)
c.3613G>A (p.Glu1205Lys)
n.285C>T
 gnomAD v4
6g.33446650G>CCA363637162SYNGAP1,SYNGAP1-AS1c.3400G>C (p.Glu1134Gln)
c.3658G>C (p.Glu1220Gln)
c.3610G>C (p.Glu1204Gln)
c.3481G>C (p.Glu1161Gln)
c.3613G>C (p.Glu1205Gln)
n.285C>G
6g.33446650G=CA1620016908SYNGAP1,SYNGAP1-AS1c.3400G= (p.Glu1134=)
c.3658G= (p.Glu1220=)
c.3610G= (p.Glu1204=)
c.3481G= (p.Glu1161=)
c.3613G= (p.Glu1205=)
n.285C=
6g.33446650G>TCA363637163SYNGAP1,SYNGAP1-AS1c.3400G>T (p.Glu1134Ter)
c.3658G>T (p.Glu1220Ter)
c.3610G>T (p.Glu1204Ter)
c.3481G>T (p.Glu1161Ter)
c.3613G>T (p.Glu1205Ter)
n.285C>A
 dbSNP
6g.33446651A>CCA363637169SYNGAP1,SYNGAP1-AS1c.3401A>C (p.Glu1134Ala)
c.3659A>C (p.Glu1220Ala)
c.3611A>C (p.Glu1204Ala)
c.3482A>C (p.Glu1161Ala)
c.3614A>C (p.Glu1205Ala)
n.284T>G
6g.33446651A>GCA363637172SYNGAP1,SYNGAP1-AS1c.3401A>G (p.Glu1134Gly)
c.3659A>G (p.Glu1220Gly)
c.3611A>G (p.Glu1204Gly)
c.3482A>G (p.Glu1161Gly)
c.3614A>G (p.Glu1205Gly)
n.284T>C
6g.33446651A>TCA363637173SYNGAP1,SYNGAP1-AS1c.3401A>T (p.Glu1134Val)
c.3659A>T (p.Glu1220Val)
c.3611A>T (p.Glu1204Val)
c.3482A>T (p.Glu1161Val)
c.3614A>T (p.Glu1205Val)
n.284T>A
6g.33446652G>ACA449839653SYNGAP1,SYNGAP1-AS1c.3402G>A (p.Glu1134=)
c.3660G>A (p.Glu1220=)
c.3612G>A (p.Glu1204=)
c.3483G>A (p.Glu1161=)
c.3615G>A (p.Glu1205=)
n.283C>T
 ClinVar dbSNP
6g.33446652G>CCA363637174SYNGAP1,SYNGAP1-AS1c.3402G>C (p.Glu1134Asp)
c.3660G>C (p.Glu1220Asp)
c.3612G>C (p.Glu1204Asp)
c.3483G>C (p.Glu1161Asp)
c.3615G>C (p.Glu1205Asp)
n.283C>G
6g.33446652G>TCA363637176SYNGAP1,SYNGAP1-AS1c.3402G>T (p.Glu1134Asp)
c.3660G>T (p.Glu1220Asp)
c.3612G>T (p.Glu1204Asp)
c.3483G>T (p.Glu1161Asp)
c.3615G>T (p.Glu1205Asp)
n.283C>A
6g.33446653C>ACA449839655SYNGAP1,SYNGAP1-AS1c.3403C>A (p.Arg1135=)
c.3661C>A (p.Arg1221=)
c.3613C>A (p.Arg1205=)
c.3484C>A (p.Arg1162=)
c.3616C>A (p.Arg1206=)
n.282G>T
6g.33446653C>GCA363637179SYNGAP1,SYNGAP1-AS1c.3403C>G (p.Arg1135Gly)
c.3661C>G (p.Arg1221Gly)
c.3613C>G (p.Arg1205Gly)
c.3484C>G (p.Arg1162Gly)
c.3616C>G (p.Arg1206Gly)
n.282G>C
6g.33446653C>TCA363637182SYNGAP1,SYNGAP1-AS1c.3403C>T (p.Arg1135Trp)
c.3661C>T (p.Arg1221Trp)
c.3613C>T (p.Arg1205Trp)
c.3484C>T (p.Arg1162Trp)
c.3616C>T (p.Arg1206Trp)
n.282G>A
 ClinVar dbSNP gnomAD v4
6g.33446654G>ACA137075371SYNGAP1,SYNGAP1-AS1c.3404G>A (p.Arg1135Gln)
c.3662G>A (p.Arg1221Gln)
c.3614G>A (p.Arg1205Gln)
c.3485G>A (p.Arg1162Gln)
c.3617G>A (p.Arg1206Gln)
n.281C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446654G>CCA363637185SYNGAP1,SYNGAP1-AS1c.3404G>C (p.Arg1135Pro)
c.3662G>C (p.Arg1221Pro)
c.3614G>C (p.Arg1205Pro)
c.3485G>C (p.Arg1162Pro)
c.3617G>C (p.Arg1206Pro)
n.281C>G
6g.33446654G=CA1620016915SYNGAP1,SYNGAP1-AS1c.3404G= (p.Arg1135=)
c.3662G= (p.Arg1221=)
c.3614G= (p.Arg1205=)
c.3485G= (p.Arg1162=)
c.3617G= (p.Arg1206=)
n.281C=
6g.33446654G>TCA363637188SYNGAP1,SYNGAP1-AS1c.3404G>T (p.Arg1135Leu)
c.3662G>T (p.Arg1221Leu)
c.3614G>T (p.Arg1205Leu)
c.3485G>T (p.Arg1162Leu)
c.3617G>T (p.Arg1206Leu)
n.281C>A
6g.33446655G>ACA449839657SYNGAP1,SYNGAP1-AS1c.3405G>A (p.Arg1135=)
c.3663G>A (p.Arg1221=)
c.3615G>A (p.Arg1205=)
c.3486G>A (p.Arg1162=)
c.3618G>A (p.Arg1206=)
n.280C>T
6g.33446655G>CCA449839659SYNGAP1,SYNGAP1-AS1c.3405G>C (p.Arg1135=)
c.3663G>C (p.Arg1221=)
c.3615G>C (p.Arg1205=)
c.3486G>C (p.Arg1162=)
c.3618G>C (p.Arg1206=)
n.280C>G
6g.33446655G>TCA449839658SYNGAP1,SYNGAP1-AS1c.3405G>T (p.Arg1135=)
c.3663G>T (p.Arg1221=)
c.3615G>T (p.Arg1205=)
c.3486G>T (p.Arg1162=)
c.3618G>T (p.Arg1206=)
n.280C>A
6g.33446656A=CA1620016920SYNGAP1,SYNGAP1-AS1c.3406A= (p.Arg1136=)
c.3664A= (p.Arg1222=)
c.3616A= (p.Arg1206=)
c.3487A= (p.Arg1163=)
c.3619A= (p.Arg1207=)
n.279T=
6g.33446656A>CCA449839661SYNGAP1,SYNGAP1-AS1c.3406A>C (p.Arg1136=)
c.3664A>C (p.Arg1222=)
c.3616A>C (p.Arg1206=)
c.3487A>C (p.Arg1163=)
c.3619A>C (p.Arg1207=)
n.279T>G
 dbSNP gnomAD v2 gnomAD v4
6g.33446656A>GCA363637189SYNGAP1,SYNGAP1-AS1c.3406A>G (p.Arg1136Gly)
c.3664A>G (p.Arg1222Gly)
c.3616A>G (p.Arg1206Gly)
c.3487A>G (p.Arg1163Gly)
c.3619A>G (p.Arg1207Gly)
n.279T>C
6g.33446656A>TCA363637190SYNGAP1,SYNGAP1-AS1c.3406A>T (p.Arg1136Trp)
c.3664A>T (p.Arg1222Trp)
c.3616A>T (p.Arg1206Trp)
c.3487A>T (p.Arg1163Trp)
c.3619A>T (p.Arg1207Trp)
n.279T>A
 COSMIC COSMIC
6g.33446657G>ACA363637191SYNGAP1,SYNGAP1-AS1c.3407G>A (p.Arg1136Lys)
c.3665G>A (p.Arg1222Lys)
c.3617G>A (p.Arg1206Lys)
c.3488G>A (p.Arg1163Lys)
c.3620G>A (p.Arg1207Lys)
n.278C>T
6g.33446657G>CCA363637193SYNGAP1,SYNGAP1-AS1c.3407G>C (p.Arg1136Thr)
c.3665G>C (p.Arg1222Thr)
c.3617G>C (p.Arg1206Thr)
c.3488G>C (p.Arg1163Thr)
c.3620G>C (p.Arg1207Thr)
n.278C>G
6g.33446657G>TCA363637192SYNGAP1,SYNGAP1-AS1c.3407G>T (p.Arg1136Met)
c.3665G>T (p.Arg1222Met)
c.3617G>T (p.Arg1206Met)
c.3488G>T (p.Arg1163Met)
c.3620G>T (p.Arg1207Met)
n.278C>A
6g.33446657_33446661dupCA1139659354SYNGAP1,SYNGAP1-AS1c.3407_3411dup (p.Leu1138GlyfsTer13)
c.3665_3669dup (p.Leu1224GlyfsTer13)
c.3617_3621dup (p.Leu1208GlyfsTer13)
c.3488_3492dup (p.Leu1165GlyfsTer13)
c.3620_3624dup (p.Leu1209GlyfsTer13)
n.274_278dup
 ClinVar dbSNP
6g.33446658G>ACA449839662SYNGAP1,SYNGAP1-AS1c.3408G>A (p.Arg1136=)
c.3666G>A (p.Arg1222=)
c.3618G>A (p.Arg1206=)
c.3489G>A (p.Arg1163=)
c.3621G>A (p.Arg1207=)
n.277C>T
6g.33446658G>CCA363637195SYNGAP1,SYNGAP1-AS1c.3408G>C (p.Arg1136Ser)
c.3666G>C (p.Arg1222Ser)
c.3618G>C (p.Arg1206Ser)
c.3489G>C (p.Arg1163Ser)
c.3621G>C (p.Arg1207Ser)
n.277C>G
6g.33446658G>TCA363637196SYNGAP1,SYNGAP1-AS1c.3408G>T (p.Arg1136Ser)
c.3666G>T (p.Arg1222Ser)
c.3618G>T (p.Arg1206Ser)
c.3489G>T (p.Arg1163Ser)
c.3621G>T (p.Arg1207Ser)
n.277C>A
6g.33446659C>ACA363637197SYNGAP1,SYNGAP1-AS1c.3409C>A (p.Leu1137Met)
c.3667C>A (p.Leu1223Met)
c.3619C>A (p.Leu1207Met)
c.3490C>A (p.Leu1164Met)
c.3622C>A (p.Leu1208Met)
n.276G>T
 dbSNP
6g.33446659C>GCA363637199SYNGAP1,SYNGAP1-AS1c.3409C>G (p.Leu1137Val)
c.3667C>G (p.Leu1223Val)
c.3619C>G (p.Leu1207Val)
c.3490C>G (p.Leu1164Val)
c.3622C>G (p.Leu1208Val)
n.276G>C
6g.33446659C>TCA449839663SYNGAP1,SYNGAP1-AS1c.3409C>T (p.Leu1137=)
c.3667C>T (p.Leu1223=)
c.3619C>T (p.Leu1207=)
c.3490C>T (p.Leu1164=)
c.3622C>T (p.Leu1208=)
n.276G>A
 gnomAD v4
6g.33446660T>ACA363637201SYNGAP1,SYNGAP1-AS1c.3410T>A (p.Leu1137Gln)
c.3668T>A (p.Leu1223Gln)
c.3620T>A (p.Leu1207Gln)
c.3491T>A (p.Leu1164Gln)
c.3623T>A (p.Leu1208Gln)
n.275A>T
6g.33446660T>CCA363637204SYNGAP1,SYNGAP1-AS1c.3410T>C (p.Leu1137Pro)
c.3668T>C (p.Leu1223Pro)
c.3620T>C (p.Leu1207Pro)
c.3491T>C (p.Leu1164Pro)
c.3623T>C (p.Leu1208Pro)
n.275A>G
6g.33446660T>GCA363637206SYNGAP1,SYNGAP1-AS1c.3410T>G (p.Leu1137Arg)
c.3668T>G (p.Leu1223Arg)
c.3620T>G (p.Leu1207Arg)
c.3491T>G (p.Leu1164Arg)
c.3623T>G (p.Leu1208Arg)
n.275A>C
6g.33446661G>ACA449839664SYNGAP1,SYNGAP1-AS1c.3411G>A (p.Leu1137=)
c.3669G>A (p.Leu1223=)
c.3621G>A (p.Leu1207=)
c.3492G>A (p.Leu1164=)
c.3624G>A (p.Leu1208=)
n.274C>T
6g.33446661G>CCA449839665SYNGAP1,SYNGAP1-AS1c.3411G>C (p.Leu1137=)
c.3669G>C (p.Leu1223=)
c.3621G>C (p.Leu1207=)
c.3492G>C (p.Leu1164=)
c.3624G>C (p.Leu1208=)
n.274C>G
6g.33446661G>TCA449839666SYNGAP1,SYNGAP1-AS1c.3411G>T (p.Leu1137=)
c.3669G>T (p.Leu1223=)
c.3621G>T (p.Leu1207=)
c.3492G>T (p.Leu1164=)
c.3624G>T (p.Leu1208=)
n.274C>A
6g.33446662C>ACA363637208SYNGAP1,SYNGAP1-AS1c.3412C>A (p.Leu1138Met)
c.3670C>A (p.Leu1224Met)
c.3622C>A (p.Leu1208Met)
c.3493C>A (p.Leu1165Met)
c.3625C>A (p.Leu1209Met)
n.273G>T
6g.33446662C>GCA363637209SYNGAP1,SYNGAP1-AS1c.3412C>G (p.Leu1138Val)
c.3670C>G (p.Leu1224Val)
c.3622C>G (p.Leu1208Val)
c.3493C>G (p.Leu1165Val)
c.3625C>G (p.Leu1209Val)
n.273G>C
6g.33446662C>TCA449839667SYNGAP1,SYNGAP1-AS1c.3412C>T (p.Leu1138=)
c.3670C>T (p.Leu1224=)
c.3622C>T (p.Leu1208=)
c.3493C>T (p.Leu1165=)
c.3625C>T (p.Leu1209=)
n.273G>A
6g.33446663T>ACA363637213SYNGAP1,SYNGAP1-AS1c.3413T>A (p.Leu1138Gln)
c.3671T>A (p.Leu1224Gln)
c.3623T>A (p.Leu1208Gln)
c.3494T>A (p.Leu1165Gln)
c.3626T>A (p.Leu1209Gln)
n.272A>T
6g.33446663T>CCA363637216SYNGAP1,SYNGAP1-AS1c.3413T>C (p.Leu1138Pro)
c.3671T>C (p.Leu1224Pro)
c.3623T>C (p.Leu1208Pro)
c.3494T>C (p.Leu1165Pro)
c.3626T>C (p.Leu1209Pro)
n.272A>G
6g.33446663T>GCA363637217SYNGAP1,SYNGAP1-AS1c.3413T>G (p.Leu1138Arg)
c.3671T>G (p.Leu1224Arg)
c.3623T>G (p.Leu1208Arg)
c.3494T>G (p.Leu1165Arg)
c.3626T>G (p.Leu1209Arg)
n.272A>C
 gnomAD v4
6g.33446664delCA2499218233SYNGAP1,SYNGAP1-AS1c.3414del (p.Ser1139ProfsTer10)
c.3672del (p.Ser1225ProfsTer10)
c.3624del (p.Ser1209ProfsTer10)
c.3495del (p.Ser1166ProfsTer10)
c.3627del (p.Ser1210ProfsTer10)
n.271del
 ClinVar dbSNP
6g.33446664G>ACA449839668SYNGAP1,SYNGAP1-AS1c.3414G>A (p.Leu1138=)
c.3672G>A (p.Leu1224=)
c.3624G>A (p.Leu1208=)
c.3495G>A (p.Leu1165=)
c.3627G>A (p.Leu1209=)
n.271C>T
6g.33446664G>CCA449839669SYNGAP1,SYNGAP1-AS1c.3414G>C (p.Leu1138=)
c.3672G>C (p.Leu1224=)
c.3624G>C (p.Leu1208=)
c.3495G>C (p.Leu1165=)
c.3627G>C (p.Leu1209=)
n.271C>G
6g.33446664G>TCA449839670SYNGAP1,SYNGAP1-AS1c.3414G>T (p.Leu1138=)
c.3672G>T (p.Leu1224=)
c.3624G>T (p.Leu1208=)
c.3495G>T (p.Leu1165=)
c.3627G>T (p.Leu1209=)
n.271C>A
6g.33446665T>ACA363637220SYNGAP1,SYNGAP1-AS1c.3415T>A (p.Ser1139Thr)
c.3673T>A (p.Ser1225Thr)
c.3625T>A (p.Ser1209Thr)
c.3496T>A (p.Ser1166Thr)
c.3628T>A (p.Ser1210Thr)
n.270A>T
6g.33446665T>CCA363637222SYNGAP1,SYNGAP1-AS1c.3415T>C (p.Ser1139Pro)
c.3673T>C (p.Ser1225Pro)
c.3625T>C (p.Ser1209Pro)
c.3496T>C (p.Ser1166Pro)
c.3628T>C (p.Ser1210Pro)
n.270A>G
6g.33446665T>GCA363637226SYNGAP1,SYNGAP1-AS1c.3415T>G (p.Ser1139Ala)
c.3673T>G (p.Ser1225Ala)
c.3625T>G (p.Ser1209Ala)
c.3496T>G (p.Ser1166Ala)
c.3628T>G (p.Ser1210Ala)
n.270A>C
6g.33446666C>ACA363637236SYNGAP1,SYNGAP1-AS1c.3416C>A (p.Ser1139Tyr)
c.3674C>A (p.Ser1225Tyr)
c.3626C>A (p.Ser1209Tyr)
c.3497C>A (p.Ser1166Tyr)
c.3629C>A (p.Ser1210Tyr)
n.269G>T
6g.33446666C>GCA363637230SYNGAP1,SYNGAP1-AS1c.3416C>G (p.Ser1139Cys)
c.3674C>G (p.Ser1225Cys)
c.3626C>G (p.Ser1209Cys)
c.3497C>G (p.Ser1166Cys)
c.3629C>G (p.Ser1210Cys)
n.269G>C
6g.33446666C>TCA363637232SYNGAP1,SYNGAP1-AS1c.3416C>T (p.Ser1139Phe)
c.3674C>T (p.Ser1225Phe)
c.3626C>T (p.Ser1209Phe)
c.3497C>T (p.Ser1166Phe)
c.3629C>T (p.Ser1210Phe)
n.269G>A

Number of alleles fetched