Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
6g.33446667C>ACA449839671SYNGAP1,SYNGAP1-AS1c.3417C>A (p.Ser1139=)
c.3675C>A (p.Ser1225=)
c.3627C>A (p.Ser1209=)
c.3498C>A (p.Ser1166=)
c.3630C>A (p.Ser1210=)
n.268G>T
6g.33446667C=CA1620016927SYNGAP1,SYNGAP1-AS1c.3417C= (p.Ser1139=)
c.3675C= (p.Ser1225=)
c.3627C= (p.Ser1209=)
c.3498C= (p.Ser1166=)
c.3630C= (p.Ser1210=)
n.268G=
6g.33446667C>GCA449839672SYNGAP1,SYNGAP1-AS1c.3417C>G (p.Ser1139=)
c.3675C>G (p.Ser1225=)
c.3627C>G (p.Ser1209=)
c.3498C>G (p.Ser1166=)
c.3630C>G (p.Ser1210=)
n.268G>C
6g.33446667C>TCA449839673SYNGAP1,SYNGAP1-AS1c.3417C>T (p.Ser1139=)
c.3675C>T (p.Ser1225=)
c.3627C>T (p.Ser1209=)
c.3498C>T (p.Ser1166=)
c.3630C>T (p.Ser1210=)
n.268G>A
 dbSNP gnomAD v4
6g.33446668C>ACA363637240SYNGAP1,SYNGAP1-AS1c.3418C>A (p.Gln1140Lys)
c.3676C>A (p.Gln1226Lys)
c.3628C>A (p.Gln1210Lys)
c.3499C>A (p.Gln1167Lys)
c.3631C>A (p.Gln1211Lys)
n.267G>T
6g.33446668C=CA1620016929SYNGAP1,SYNGAP1-AS1c.3418C= (p.Gln1140=)
c.3676C= (p.Gln1226=)
c.3628C= (p.Gln1210=)
c.3499C= (p.Gln1167=)
c.3631C= (p.Gln1211=)
n.267G=
6g.33446668C>GCA363637243SYNGAP1,SYNGAP1-AS1c.3418C>G (p.Gln1140Glu)
c.3676C>G (p.Gln1226Glu)
c.3628C>G (p.Gln1210Glu)
c.3499C>G (p.Gln1167Glu)
c.3631C>G (p.Gln1211Glu)
n.267G>C
6g.33446668C>TCA363637246SYNGAP1,SYNGAP1-AS1c.3418C>T (p.Gln1140Ter)
c.3676C>T (p.Gln1226Ter)
c.3628C>T (p.Gln1210Ter)
c.3499C>T (p.Gln1167Ter)
c.3631C>T (p.Gln1211Ter)
n.267G>A
 dbSNP
6g.33446669A>CCA363637249SYNGAP1,SYNGAP1-AS1c.3419A>C (p.Gln1140Pro)
c.3677A>C (p.Gln1226Pro)
c.3629A>C (p.Gln1210Pro)
c.3500A>C (p.Gln1167Pro)
c.3632A>C (p.Gln1211Pro)
n.266T>G
6g.33446669A>GCA363637251SYNGAP1,SYNGAP1-AS1c.3419A>G (p.Gln1140Arg)
c.3677A>G (p.Gln1226Arg)
c.3629A>G (p.Gln1210Arg)
c.3500A>G (p.Gln1167Arg)
c.3632A>G (p.Gln1211Arg)
n.266T>C
6g.33446669A>TCA363637255SYNGAP1,SYNGAP1-AS1c.3419A>T (p.Gln1140Leu)
c.3677A>T (p.Gln1226Leu)
c.3629A>T (p.Gln1210Leu)
c.3500A>T (p.Gln1167Leu)
c.3632A>T (p.Gln1211Leu)
n.266T>A
6g.33446670G>ACA449839674SYNGAP1,SYNGAP1-AS1c.3420G>A (p.Gln1140=)
c.3678G>A (p.Gln1226=)
c.3630G>A (p.Gln1210=)
c.3501G>A (p.Gln1167=)
c.3633G>A (p.Gln1211=)
n.265C>T
 dbSNP
6g.33446670G>CCA363637258SYNGAP1,SYNGAP1-AS1c.3420G>C (p.Gln1140His)
c.3678G>C (p.Gln1226His)
c.3630G>C (p.Gln1210His)
c.3501G>C (p.Gln1167His)
c.3633G>C (p.Gln1211His)
n.265C>G
6g.33446670G=CA1620016936SYNGAP1,SYNGAP1-AS1c.3420G= (p.Gln1140=)
c.3678G= (p.Gln1226=)
c.3630G= (p.Gln1210=)
c.3501G= (p.Gln1167=)
c.3633G= (p.Gln1211=)
n.265C=
6g.33446670G>TCA363637265SYNGAP1,SYNGAP1-AS1c.3420G>T (p.Gln1140His)
c.3678G>T (p.Gln1226His)
c.3630G>T (p.Gln1210His)
c.3501G>T (p.Gln1167His)
c.3633G>T (p.Gln1211His)
n.265C>A
6g.33446671G>ACA363637268SYNGAP1,SYNGAP1-AS1c.3421G>A (p.Glu1141Lys)
c.3679G>A (p.Glu1227Lys)
c.3631G>A (p.Glu1211Lys)
c.3502G>A (p.Glu1168Lys)
c.3634G>A (p.Glu1212Lys)
n.264C>T
6g.33446671G>CCA363637271SYNGAP1,SYNGAP1-AS1c.3421G>C (p.Glu1141Gln)
c.3679G>C (p.Glu1227Gln)
c.3631G>C (p.Glu1211Gln)
c.3502G>C (p.Glu1168Gln)
c.3634G>C (p.Glu1212Gln)
n.264C>G
6g.33446671G=CA1620016939SYNGAP1,SYNGAP1-AS1c.3421G= (p.Glu1141=)
c.3679G= (p.Glu1227=)
c.3631G= (p.Glu1211=)
c.3502G= (p.Glu1168=)
c.3634G= (p.Glu1212=)
n.264C=
6g.33446671G>TCA363637273SYNGAP1,SYNGAP1-AS1c.3421G>T (p.Glu1141Ter)
c.3679G>T (p.Glu1227Ter)
c.3631G>T (p.Glu1211Ter)
c.3502G>T (p.Glu1168Ter)
c.3634G>T (p.Glu1212Ter)
n.264C>A
 dbSNP
6g.33446672A>CCA363637279SYNGAP1,SYNGAP1-AS1c.3422A>C (p.Glu1141Ala)
c.3680A>C (p.Glu1227Ala)
c.3632A>C (p.Glu1211Ala)
c.3503A>C (p.Glu1168Ala)
c.3635A>C (p.Glu1212Ala)
n.263T>G
6g.33446672A>GCA363637277SYNGAP1,SYNGAP1-AS1c.3422A>G (p.Glu1141Gly)
c.3680A>G (p.Glu1227Gly)
c.3632A>G (p.Glu1211Gly)
c.3503A>G (p.Glu1168Gly)
c.3635A>G (p.Glu1212Gly)
n.263T>C
6g.33446672A>TCA363637275SYNGAP1,SYNGAP1-AS1c.3422A>T (p.Glu1141Val)
c.3680A>T (p.Glu1227Val)
c.3632A>T (p.Glu1211Val)
c.3503A>T (p.Glu1168Val)
c.3635A>T (p.Glu1212Val)
n.263T>A
6g.33446673delCA2739272946SYNGAP1,SYNGAP1-AS1c.3423del (p.Glu1142AsnfsTer7)
c.3681del (p.Glu1228AsnfsTer7)
c.3633del (p.Glu1212AsnfsTer7)
c.3504del (p.Glu1169AsnfsTer7)
c.3636del (p.Glu1213AsnfsTer7)
n.263del
 ClinVar
6g.33446673A>CCA363637282SYNGAP1,SYNGAP1-AS1c.3423A>C (p.Glu1141Asp)
c.3681A>C (p.Glu1227Asp)
c.3633A>C (p.Glu1211Asp)
c.3504A>C (p.Glu1168Asp)
c.3636A>C (p.Glu1212Asp)
n.262T>G
6g.33446673A>GCA449839675SYNGAP1,SYNGAP1-AS1c.3423A>G (p.Glu1141=)
c.3681A>G (p.Glu1227=)
c.3633A>G (p.Glu1211=)
c.3504A>G (p.Glu1168=)
c.3636A>G (p.Glu1212=)
n.262T>C
 ClinVar dbSNP
6g.33446673A>TCA363637284SYNGAP1,SYNGAP1-AS1c.3423A>T (p.Glu1141Asp)
c.3681A>T (p.Glu1227Asp)
c.3633A>T (p.Glu1211Asp)
c.3504A>T (p.Glu1168Asp)
c.3636A>T (p.Glu1212Asp)
n.262T>A
6g.33446674G>ACA363637285SYNGAP1,SYNGAP1-AS1c.3424G>A (p.Glu1142Lys)
c.3682G>A (p.Glu1228Lys)
c.3634G>A (p.Glu1212Lys)
c.3505G>A (p.Glu1169Lys)
c.3637G>A (p.Glu1213Lys)
n.261C>T
6g.33446674G>CCA363637286SYNGAP1,SYNGAP1-AS1c.3424G>C (p.Glu1142Gln)
c.3682G>C (p.Glu1228Gln)
c.3634G>C (p.Glu1212Gln)
c.3505G>C (p.Glu1169Gln)
c.3637G>C (p.Glu1213Gln)
n.261C>G
6g.33446674G=CA1620016942SYNGAP1,SYNGAP1-AS1c.3424G= (p.Glu1142=)
c.3682G= (p.Glu1228=)
c.3634G= (p.Glu1212=)
c.3505G= (p.Glu1169=)
c.3637G= (p.Glu1213=)
n.261C=
6g.33446674G>TCA363637287SYNGAP1,SYNGAP1-AS1c.3424G>T (p.Glu1142Ter)
c.3682G>T (p.Glu1228Ter)
c.3634G>T (p.Glu1212Ter)
c.3505G>T (p.Glu1169Ter)
c.3637G>T (p.Glu1213Ter)
n.261C>A
 dbSNP
6g.33446675A>CCA363637289SYNGAP1,SYNGAP1-AS1c.3425A>C (p.Glu1142Ala)
c.3683A>C (p.Glu1228Ala)
c.3635A>C (p.Glu1212Ala)
c.3506A>C (p.Glu1169Ala)
c.3638A>C (p.Glu1213Ala)
n.260T>G
6g.33446675A>GCA363637291SYNGAP1,SYNGAP1-AS1c.3425A>G (p.Glu1142Gly)
c.3683A>G (p.Glu1228Gly)
c.3635A>G (p.Glu1212Gly)
c.3506A>G (p.Glu1169Gly)
c.3638A>G (p.Glu1213Gly)
n.260T>C
6g.33446675A>TCA363637292SYNGAP1,SYNGAP1-AS1c.3425A>T (p.Glu1142Val)
c.3683A>T (p.Glu1228Val)
c.3635A>T (p.Glu1212Val)
c.3506A>T (p.Glu1169Val)
c.3638A>T (p.Glu1213Val)
n.260T>A
6g.33446678_33446681delCA658653623SYNGAP1,SYNGAP1-AS1c.3428_3431del (p.Gln1143ProfsTer5)
c.3686_3689del (p.Gln1229ProfsTer5)
c.3638_3641del (p.Gln1213ProfsTer5)
c.3509_3512del (p.Gln1170ProfsTer5)
c.3641_3644del (p.Gln1214ProfsTer5)
n.257_260del
6g.33446676A>CCA363637294SYNGAP1,SYNGAP1-AS1c.3426A>C (p.Glu1142Asp)
c.3684A>C (p.Glu1228Asp)
c.3636A>C (p.Glu1212Asp)
c.3507A>C (p.Glu1169Asp)
c.3639A>C (p.Glu1213Asp)
n.259T>G
6g.33446676A>GCA449839676SYNGAP1,SYNGAP1-AS1c.3426A>G (p.Glu1142=)
c.3684A>G (p.Glu1228=)
c.3636A>G (p.Glu1212=)
c.3507A>G (p.Glu1169=)
c.3639A>G (p.Glu1213=)
n.259T>C
6g.33446676A>TCA363637297SYNGAP1,SYNGAP1-AS1c.3426A>T (p.Glu1142Asp)
c.3684A>T (p.Glu1228Asp)
c.3636A>T (p.Glu1212Asp)
c.3507A>T (p.Glu1169Asp)
c.3639A>T (p.Glu1213Asp)
n.259T>A
6g.33446677C>ACA363637299SYNGAP1,SYNGAP1-AS1c.3427C>A (p.Gln1143Lys)
c.3685C>A (p.Gln1229Lys)
c.3637C>A (p.Gln1213Lys)
c.3508C>A (p.Gln1170Lys)
c.3640C>A (p.Gln1214Lys)
n.258G>T
6g.33446677C>GCA363637301SYNGAP1,SYNGAP1-AS1c.3427C>G (p.Gln1143Glu)
c.3685C>G (p.Gln1229Glu)
c.3637C>G (p.Gln1213Glu)
c.3508C>G (p.Gln1170Glu)
c.3640C>G (p.Gln1214Glu)
n.258G>C
6g.33446677C>TCA363637303SYNGAP1,SYNGAP1-AS1c.3427C>T (p.Gln1143Ter)
c.3685C>T (p.Gln1229Ter)
c.3637C>T (p.Gln1213Ter)
c.3508C>T (p.Gln1170Ter)
c.3640C>T (p.Gln1214Ter)
n.258G>A
 ClinVar dbSNP
6g.33446678A>CCA363637306SYNGAP1,SYNGAP1-AS1c.3428A>C (p.Gln1143Pro)
c.3686A>C (p.Gln1229Pro)
c.3638A>C (p.Gln1213Pro)
c.3509A>C (p.Gln1170Pro)
c.3641A>C (p.Gln1214Pro)
n.257T>G
 ClinVar dbSNP
6g.33446678A>GCA363637304SYNGAP1,SYNGAP1-AS1c.3428A>G (p.Gln1143Arg)
c.3686A>G (p.Gln1229Arg)
c.3638A>G (p.Gln1213Arg)
c.3509A>G (p.Gln1170Arg)
c.3641A>G (p.Gln1214Arg)
n.257T>C
6g.33446678A>TCA363637305SYNGAP1,SYNGAP1-AS1c.3428A>T (p.Gln1143Leu)
c.3686A>T (p.Gln1229Leu)
c.3638A>T (p.Gln1213Leu)
c.3509A>T (p.Gln1170Leu)
c.3641A>T (p.Gln1214Leu)
n.257T>A
6g.33446679A=CA1620016945SYNGAP1,SYNGAP1-AS1c.3429A= (p.Gln1143=)
c.3687A= (p.Gln1229=)
c.3639A= (p.Gln1213=)
c.3510A= (p.Gln1170=)
c.3642A= (p.Gln1214=)
n.256T=
6g.33446679A>CCA363637308SYNGAP1,SYNGAP1-AS1c.3429A>C (p.Gln1143His)
c.3687A>C (p.Gln1229His)
c.3639A>C (p.Gln1213His)
c.3510A>C (p.Gln1170His)
c.3642A>C (p.Gln1214His)
n.256T>G
 COSMIC COSMIC
6g.33446679A>GCA3759084SYNGAP1,SYNGAP1-AS1c.3429A>G (p.Gln1143=)
c.3687A>G (p.Gln1229=)
c.3639A>G (p.Gln1213=)
c.3510A>G (p.Gln1170=)
c.3642A>G (p.Gln1214=)
n.256T>C
 dbSNP ExAC gnomAD v2
6g.33446679A>TCA363637311SYNGAP1,SYNGAP1-AS1c.3429A>T (p.Gln1143His)
c.3687A>T (p.Gln1229His)
c.3639A>T (p.Gln1213His)
c.3510A>T (p.Gln1170His)
c.3642A>T (p.Gln1214His)
n.256T>A
6g.33446680A>CCA363637313SYNGAP1,SYNGAP1-AS1c.3430A>C (p.Thr1144Pro)
c.3688A>C (p.Thr1230Pro)
c.3640A>C (p.Thr1214Pro)
c.3511A>C (p.Thr1171Pro)
c.3643A>C (p.Thr1215Pro)
n.255T>G
6g.33446680A>GCA363637316SYNGAP1,SYNGAP1-AS1c.3430A>G (p.Thr1144Ala)
c.3688A>G (p.Thr1230Ala)
c.3640A>G (p.Thr1214Ala)
c.3511A>G (p.Thr1171Ala)
c.3643A>G (p.Thr1215Ala)
n.255T>C
6g.33446680A>TCA363637318SYNGAP1,SYNGAP1-AS1c.3430A>T (p.Thr1144Ser)
c.3688A>T (p.Thr1230Ser)
c.3640A>T (p.Thr1214Ser)
c.3511A>T (p.Thr1171Ser)
c.3643A>T (p.Thr1215Ser)
n.255T>A
6g.33446681C>ACA363637321SYNGAP1,SYNGAP1-AS1c.3431C>A (p.Thr1144Asn)
c.3689C>A (p.Thr1230Asn)
c.3641C>A (p.Thr1214Asn)
c.3512C>A (p.Thr1171Asn)
c.3644C>A (p.Thr1215Asn)
n.254G>T
6g.33446681C>GCA363637324SYNGAP1,SYNGAP1-AS1c.3431C>G (p.Thr1144Ser)
c.3689C>G (p.Thr1230Ser)
c.3641C>G (p.Thr1214Ser)
c.3512C>G (p.Thr1171Ser)
c.3644C>G (p.Thr1215Ser)
n.254G>C
6g.33446681C>TCA363637325SYNGAP1,SYNGAP1-AS1c.3431C>T (p.Thr1144Ile)
c.3689C>T (p.Thr1230Ile)
c.3641C>T (p.Thr1214Ile)
c.3512C>T (p.Thr1171Ile)
c.3644C>T (p.Thr1215Ile)
n.254G>A
6g.33446682C>ACA449839677SYNGAP1,SYNGAP1-AS1c.3432C>A (p.Thr1144=)
c.3690C>A (p.Thr1230=)
c.3642C>A (p.Thr1214=)
c.3513C>A (p.Thr1171=)
c.3645C>A (p.Thr1215=)
n.253G>T
 ClinVar dbSNP
6g.33446682C>GCA449839678SYNGAP1,SYNGAP1-AS1c.3432C>G (p.Thr1144=)
c.3690C>G (p.Thr1230=)
c.3642C>G (p.Thr1214=)
c.3513C>G (p.Thr1171=)
c.3645C>G (p.Thr1215=)
n.253G>C
6g.33446682C>TCA449839679SYNGAP1,SYNGAP1-AS1c.3432C>T (p.Thr1144=)
c.3690C>T (p.Thr1230=)
c.3642C>T (p.Thr1214=)
c.3513C>T (p.Thr1171=)
c.3645C>T (p.Thr1215=)
n.253G>A
 dbSNP gnomAD v4
6g.33446683A>CCA363637326SYNGAP1,SYNGAP1-AS1c.3433A>C (p.Ser1145Arg)
c.3691A>C (p.Ser1231Arg)
c.3643A>C (p.Ser1215Arg)
c.3514A>C (p.Ser1172Arg)
c.3646A>C (p.Ser1216Arg)
n.252T>G
6g.33446683A>GCA363637328SYNGAP1,SYNGAP1-AS1c.3433A>G (p.Ser1145Gly)
c.3691A>G (p.Ser1231Gly)
c.3643A>G (p.Ser1215Gly)
c.3514A>G (p.Ser1172Gly)
c.3646A>G (p.Ser1216Gly)
n.252T>C
6g.33446683A>TCA363637329SYNGAP1,SYNGAP1-AS1c.3433A>T (p.Ser1145Cys)
c.3691A>T (p.Ser1231Cys)
c.3643A>T (p.Ser1215Cys)
c.3514A>T (p.Ser1172Cys)
c.3646A>T (p.Ser1216Cys)
n.252T>A
6g.33446684G>ACA363637333SYNGAP1,SYNGAP1-AS1c.3434G>A (p.Ser1145Asn)
c.3692G>A (p.Ser1231Asn)
c.3644G>A (p.Ser1215Asn)
c.3515G>A (p.Ser1172Asn)
c.3647G>A (p.Ser1216Asn)
n.251C>T
6g.33446684G>CCA363637335SYNGAP1,SYNGAP1-AS1c.3434G>C (p.Ser1145Thr)
c.3692G>C (p.Ser1231Thr)
c.3644G>C (p.Ser1215Thr)
c.3515G>C (p.Ser1172Thr)
c.3647G>C (p.Ser1216Thr)
n.251C>G
6g.33446684G>TCA363637332SYNGAP1,SYNGAP1-AS1c.3434G>T (p.Ser1145Ile)
c.3692G>T (p.Ser1231Ile)
c.3644G>T (p.Ser1215Ile)
c.3515G>T (p.Ser1172Ile)
c.3647G>T (p.Ser1216Ile)
n.251C>A
6g.33446685C>ACA363637339SYNGAP1,SYNGAP1-AS1c.3435C>A (p.Ser1145Arg)
c.3693C>A (p.Ser1231Arg)
c.3645C>A (p.Ser1215Arg)
c.3516C>A (p.Ser1172Arg)
c.3648C>A (p.Ser1216Arg)
n.250G>T
6g.33446685C>GCA363637337SYNGAP1,SYNGAP1-AS1c.3435C>G (p.Ser1145Arg)
c.3693C>G (p.Ser1231Arg)
c.3645C>G (p.Ser1215Arg)
c.3516C>G (p.Ser1172Arg)
c.3648C>G (p.Ser1216Arg)
n.250G>C
6g.33446685C>TCA449839680SYNGAP1,SYNGAP1-AS1c.3435C>T (p.Ser1145=)
c.3693C>T (p.Ser1231=)
c.3645C>T (p.Ser1215=)
c.3516C>T (p.Ser1172=)
c.3648C>T (p.Ser1216=)
n.250G>A
6g.33446686A=CA1620016949SYNGAP1,SYNGAP1-AS1c.3436A= (p.Lys1146=)
c.3694A= (p.Lys1232=)
c.3646A= (p.Lys1216=)
c.3517A= (p.Lys1173=)
c.3649A= (p.Lys1217=)
n.249T=
6g.33446686A>CCA363637340SYNGAP1,SYNGAP1-AS1c.3436A>C (p.Lys1146Gln)
c.3694A>C (p.Lys1232Gln)
c.3646A>C (p.Lys1216Gln)
c.3517A>C (p.Lys1173Gln)
c.3649A>C (p.Lys1217Gln)
n.249T>G
6g.33446686A>GCA363637342SYNGAP1,SYNGAP1-AS1c.3436A>G (p.Lys1146Glu)
c.3694A>G (p.Lys1232Glu)
c.3646A>G (p.Lys1216Glu)
c.3517A>G (p.Lys1173Glu)
c.3649A>G (p.Lys1217Glu)
n.249T>C
6g.33446686A>TCA363637345SYNGAP1,SYNGAP1-AS1c.3436A>T (p.Lys1146Ter)
c.3694A>T (p.Lys1232Ter)
c.3646A>T (p.Lys1216Ter)
c.3517A>T (p.Lys1173Ter)
c.3649A>T (p.Lys1217Ter)
n.249T>A
 dbSNP
6g.33446687A>CCA363637347SYNGAP1,SYNGAP1-AS1c.3437A>C (p.Lys1146Thr)
c.3695A>C (p.Lys1232Thr)
c.3647A>C (p.Lys1216Thr)
c.3518A>C (p.Lys1173Thr)
c.3650A>C (p.Lys1217Thr)
n.248T>G
6g.33446687A>GCA363637352SYNGAP1,SYNGAP1-AS1c.3437A>G (p.Lys1146Arg)
c.3695A>G (p.Lys1232Arg)
c.3647A>G (p.Lys1216Arg)
c.3518A>G (p.Lys1173Arg)
c.3650A>G (p.Lys1217Arg)
n.248T>C
6g.33446687A>TCA363637354SYNGAP1,SYNGAP1-AS1c.3437A>T (p.Lys1146Ile)
c.3695A>T (p.Lys1232Ile)
c.3647A>T (p.Lys1216Ile)
c.3518A>T (p.Lys1173Ile)
c.3650A>T (p.Lys1217Ile)
n.248T>A
6g.33446688A>CCA363637356SYNGAP1,SYNGAP1-AS1c.3438A>C (p.Lys1146Asn)
c.3696A>C (p.Lys1232Asn)
c.3648A>C (p.Lys1216Asn)
c.3519A>C (p.Lys1173Asn)
c.3651A>C (p.Lys1217Asn)
n.247T>G
6g.33446688A>GCA449839681SYNGAP1,SYNGAP1-AS1c.3438A>G (p.Lys1146=)
c.3696A>G (p.Lys1232=)
c.3648A>G (p.Lys1216=)
c.3519A>G (p.Lys1173=)
c.3651A>G (p.Lys1217=)
n.247T>C
 gnomAD v4
6g.33446688A>TCA363637358SYNGAP1,SYNGAP1-AS1c.3438A>T (p.Lys1146Asn)
c.3696A>T (p.Lys1232Asn)
c.3648A>T (p.Lys1216Asn)
c.3519A>T (p.Lys1173Asn)
c.3651A>T (p.Lys1217Asn)
n.247T>A
6g.33446689A>CCA363637359SYNGAP1,SYNGAP1-AS1c.3439A>C (p.Ile1147Leu)
c.3697A>C (p.Ile1233Leu)
c.3649A>C (p.Ile1217Leu)
c.3520A>C (p.Ile1174Leu)
c.3652A>C (p.Ile1218Leu)
n.246T>G
6g.33446689A>GCA363637361SYNGAP1,SYNGAP1-AS1c.3439A>G (p.Ile1147Val)
c.3697A>G (p.Ile1233Val)
c.3649A>G (p.Ile1217Val)
c.3520A>G (p.Ile1174Val)
c.3652A>G (p.Ile1218Val)
n.246T>C
6g.33446689A>TCA363637363SYNGAP1,SYNGAP1-AS1c.3439A>T (p.Ile1147Phe)
c.3697A>T (p.Ile1233Phe)
c.3649A>T (p.Ile1217Phe)
c.3520A>T (p.Ile1174Phe)
c.3652A>T (p.Ile1218Phe)
n.246T>A
6g.33446690T>ACA363637374SYNGAP1,SYNGAP1-AS1c.3440T>A (p.Ile1147Asn)
c.3698T>A (p.Ile1233Asn)
c.3650T>A (p.Ile1217Asn)
c.3521T>A (p.Ile1174Asn)
c.3653T>A (p.Ile1218Asn)
n.245A>T
6g.33446690T>CCA363637377SYNGAP1,SYNGAP1-AS1c.3440T>C (p.Ile1147Thr)
c.3698T>C (p.Ile1233Thr)
c.3650T>C (p.Ile1217Thr)
c.3521T>C (p.Ile1174Thr)
c.3653T>C (p.Ile1218Thr)
n.245A>G
6g.33446690T>GCA363637380SYNGAP1,SYNGAP1-AS1c.3440T>G (p.Ile1147Ser)
c.3698T>G (p.Ile1233Ser)
c.3650T>G (p.Ile1217Ser)
c.3521T>G (p.Ile1174Ser)
c.3653T>G (p.Ile1218Ser)
n.245A>C
6g.33446691C>ACA449839683SYNGAP1,SYNGAP1-AS1c.3441C>A (p.Ile1147=)
c.3699C>A (p.Ile1233=)
c.3651C>A (p.Ile1217=)
c.3522C>A (p.Ile1174=)
c.3654C>A (p.Ile1218=)
n.244G>T
 gnomAD v4
6g.33446691C>GCA363637383SYNGAP1,SYNGAP1-AS1c.3441C>G (p.Ile1147Met)
c.3699C>G (p.Ile1233Met)
c.3651C>G (p.Ile1217Met)
c.3522C>G (p.Ile1174Met)
c.3654C>G (p.Ile1218Met)
n.244G>C
6g.33446691C>TCA449839682SYNGAP1,SYNGAP1-AS1c.3441C>T (p.Ile1147=)
c.3699C>T (p.Ile1233=)
c.3651C>T (p.Ile1217=)
c.3522C>T (p.Ile1174=)
c.3654C>T (p.Ile1218=)
n.244G>A
 COSMIC COSMIC
6g.33446692C>ACA363637395SYNGAP1,SYNGAP1-AS1c.3442C>A (p.Leu1148Met)
c.3700C>A (p.Leu1234Met)
c.3652C>A (p.Leu1218Met)
c.3523C>A (p.Leu1175Met)
c.3655C>A (p.Leu1219Met)
n.243G>T
6g.33446692C>GCA363637400SYNGAP1,SYNGAP1-AS1c.3442C>G (p.Leu1148Val)
c.3700C>G (p.Leu1234Val)
c.3652C>G (p.Leu1218Val)
c.3523C>G (p.Leu1175Val)
c.3655C>G (p.Leu1219Val)
n.243G>C
6g.33446692C>TCA449839684SYNGAP1,SYNGAP1-AS1c.3442C>T (p.Leu1148=)
c.3700C>T (p.Leu1234=)
c.3652C>T (p.Leu1218=)
c.3523C>T (p.Leu1175=)
c.3655C>T (p.Leu1219=)
n.243G>A
6g.33446693T>ACA363637403SYNGAP1,SYNGAP1-AS1c.3443T>A (p.Leu1148Gln)
c.3701T>A (p.Leu1234Gln)
c.3653T>A (p.Leu1218Gln)
c.3524T>A (p.Leu1175Gln)
c.3656T>A (p.Leu1219Gln)
n.242A>T
6g.33446693T>CCA363637405SYNGAP1,SYNGAP1-AS1c.3443T>C (p.Leu1148Pro)
c.3701T>C (p.Leu1234Pro)
c.3653T>C (p.Leu1218Pro)
c.3524T>C (p.Leu1175Pro)
c.3656T>C (p.Leu1219Pro)
n.242A>G
6g.33446693T>GCA363637409SYNGAP1,SYNGAP1-AS1c.3443T>G (p.Leu1148Arg)
c.3701T>G (p.Leu1234Arg)
c.3653T>G (p.Leu1218Arg)
c.3524T>G (p.Leu1175Arg)
c.3656T>G (p.Leu1219Arg)
n.242A>C
6g.33446694G>ACA449839687SYNGAP1,SYNGAP1-AS1c.3444G>A (p.Leu1148=)
c.3702G>A (p.Leu1234=)
c.3654G>A (p.Leu1218=)
c.3525G>A (p.Leu1175=)
c.3657G>A (p.Leu1219=)
n.241C>T
6g.33446694G>CCA449839686SYNGAP1,SYNGAP1-AS1c.3444G>C (p.Leu1148=)
c.3702G>C (p.Leu1234=)
c.3654G>C (p.Leu1218=)
c.3525G>C (p.Leu1175=)
c.3657G>C (p.Leu1219=)
n.241C>G
6g.33446694G>TCA449839685SYNGAP1,SYNGAP1-AS1c.3444G>T (p.Leu1148=)
c.3702G>T (p.Leu1234=)
c.3654G>T (p.Leu1218=)
c.3525G>T (p.Leu1175=)
c.3657G>T (p.Leu1219=)
n.241C>A
6g.33446695A>CCA363637412SYNGAP1,SYNGAP1-AS1c.3445A>C (p.Met1149Leu)
c.3703A>C (p.Met1235Leu)
c.3655A>C (p.Met1219Leu)
c.3526A>C (p.Met1176Leu)
c.3658A>C (p.Met1220Leu)
n.240T>G
6g.33446695A>GCA363637414SYNGAP1,SYNGAP1-AS1c.3445A>G (p.Met1149Val)
c.3703A>G (p.Met1235Val)
c.3655A>G (p.Met1219Val)
c.3526A>G (p.Met1176Val)
c.3658A>G (p.Met1220Val)
n.240T>C
6g.33446695A>TCA363637426SYNGAP1,SYNGAP1-AS1c.3445A>T (p.Met1149Leu)
c.3703A>T (p.Met1235Leu)
c.3655A>T (p.Met1219Leu)
c.3526A>T (p.Met1176Leu)
c.3658A>T (p.Met1220Leu)
n.240T>A
6g.33446696T>ACA363637429SYNGAP1,SYNGAP1-AS1c.3446T>A (p.Met1149Lys)
c.3704T>A (p.Met1235Lys)
c.3656T>A (p.Met1219Lys)
c.3527T>A (p.Met1176Lys)
c.3659T>A (p.Met1220Lys)
n.239A>T
6g.33446696T>CCA363637432SYNGAP1,SYNGAP1-AS1c.3446T>C (p.Met1149Thr)
c.3704T>C (p.Met1235Thr)
c.3656T>C (p.Met1219Thr)
c.3527T>C (p.Met1176Thr)
c.3659T>C (p.Met1220Thr)
n.239A>G
6g.33446696T>GCA363637434SYNGAP1,SYNGAP1-AS1c.3446T>G (p.Met1149Arg)
c.3704T>G (p.Met1235Arg)
c.3656T>G (p.Met1219Arg)
c.3527T>G (p.Met1176Arg)
c.3659T>G (p.Met1220Arg)
n.239A>C
6g.33446697G>ACA363637437SYNGAP1,SYNGAP1-AS1c.3447G>A (p.Met1149Ile)
c.3705G>A (p.Met1235Ile)
c.3657G>A (p.Met1219Ile)
c.3528G>A (p.Met1176Ile)
c.3660G>A (p.Met1220Ile)
n.238C>T
 ClinVar
6g.33446697G>CCA363637440SYNGAP1,SYNGAP1-AS1c.3447G>C (p.Met1149Ile)
c.3705G>C (p.Met1235Ile)
c.3657G>C (p.Met1219Ile)
c.3528G>C (p.Met1176Ile)
c.3660G>C (p.Met1220Ile)
n.238C>G
 gnomAD v4
6g.33446697G>TCA363637442SYNGAP1,SYNGAP1-AS1c.3447G>T (p.Met1149Ile)
c.3705G>T (p.Met1235Ile)
c.3657G>T (p.Met1219Ile)
c.3528G>T (p.Met1176Ile)
c.3660G>T (p.Met1220Ile)
n.238C>A
6g.33446698C>ACA363637455SYNGAP1,SYNGAP1-AS1c.3448C>A (p.Gln1150Lys)
c.3706C>A (p.Gln1236Lys)
c.3658C>A (p.Gln1220Lys)
c.3529C>A (p.Gln1177Lys)
c.3661C>A (p.Gln1221Lys)
n.237G>T
6g.33446698C=CA1620016954SYNGAP1,SYNGAP1-AS1c.3448C= (p.Gln1150=)
c.3706C= (p.Gln1236=)
c.3658C= (p.Gln1220=)
c.3529C= (p.Gln1177=)
c.3661C= (p.Gln1221=)
n.237G=
6g.33446698C>GCA363637448SYNGAP1,SYNGAP1-AS1c.3448C>G (p.Gln1150Glu)
c.3706C>G (p.Gln1236Glu)
c.3658C>G (p.Gln1220Glu)
c.3529C>G (p.Gln1177Glu)
c.3661C>G (p.Gln1221Glu)
n.237G>C
6g.33446698C>TCA363637452SYNGAP1,SYNGAP1-AS1c.3448C>T (p.Gln1150Ter)
c.3706C>T (p.Gln1236Ter)
c.3658C>T (p.Gln1220Ter)
c.3529C>T (p.Gln1177Ter)
c.3661C>T (p.Gln1221Ter)
n.237G>A
 ClinVar dbSNP
6g.33446699A>CCA363637469SYNGAP1,SYNGAP1-AS1c.3449A>C (p.Gln1150Pro)
c.3707A>C (p.Gln1236Pro)
c.3659A>C (p.Gln1220Pro)
c.3530A>C (p.Gln1177Pro)
c.3662A>C (p.Gln1221Pro)
n.236T>G
6g.33446699A>GCA363637472SYNGAP1,SYNGAP1-AS1c.3449A>G (p.Gln1150Arg)
c.3707A>G (p.Gln1236Arg)
c.3659A>G (p.Gln1220Arg)
c.3530A>G (p.Gln1177Arg)
c.3662A>G (p.Gln1221Arg)
n.236T>C
6g.33446699A>TCA363637475SYNGAP1,SYNGAP1-AS1c.3449A>T (p.Gln1150Leu)
c.3707A>T (p.Gln1236Leu)
c.3659A>T (p.Gln1220Leu)
c.3530A>T (p.Gln1177Leu)
c.3662A>T (p.Gln1221Leu)
n.236T>A
6g.33446700G>ACA449839688SYNGAP1,SYNGAP1-AS1c.3450G>A (p.Gln1150=)
c.3708G>A (p.Gln1236=)
c.3660G>A (p.Gln1220=)
c.3531G>A (p.Gln1177=)
c.3663G>A (p.Gln1221=)
n.235C>T
6g.33446700G>CCA363637479SYNGAP1,SYNGAP1-AS1c.3450G>C (p.Gln1150His)
c.3708G>C (p.Gln1236His)
c.3660G>C (p.Gln1220His)
c.3531G>C (p.Gln1177His)
c.3663G>C (p.Gln1221His)
n.235C>G
6g.33446700G>TCA363637482SYNGAP1,SYNGAP1-AS1c.3450G>T (p.Gln1150His)
c.3708G>T (p.Gln1236His)
c.3660G>T (p.Gln1220His)
c.3531G>T (p.Gln1177His)
c.3663G>T (p.Gln1221His)
n.235C>A
6g.33446701T>ACA363637484SYNGAP1,SYNGAP1-AS1c.3451T>A (p.Tyr1151Asn)
c.3709T>A (p.Tyr1237Asn)
c.3661T>A (p.Tyr1221Asn)
c.3532T>A (p.Tyr1178Asn)
c.3664T>A (p.Tyr1222Asn)
n.234A>T
6g.33446701T>CCA363637488SYNGAP1,SYNGAP1-AS1c.3451T>C (p.Tyr1151His)
c.3709T>C (p.Tyr1237His)
c.3661T>C (p.Tyr1221His)
c.3532T>C (p.Tyr1178His)
c.3664T>C (p.Tyr1222His)
n.234A>G
 dbSNP
6g.33446701T>GCA363637489SYNGAP1,SYNGAP1-AS1c.3451T>G (p.Tyr1151Asp)
c.3709T>G (p.Tyr1237Asp)
c.3661T>G (p.Tyr1221Asp)
c.3532T>G (p.Tyr1178Asp)
c.3664T>G (p.Tyr1222Asp)
n.234A>C
6g.33446701T=CA1620016957SYNGAP1,SYNGAP1-AS1c.3451T= (p.Tyr1151=)
c.3709T= (p.Tyr1237=)
c.3661T= (p.Tyr1221=)
c.3532T= (p.Tyr1178=)
c.3664T= (p.Tyr1222=)
n.234A=
6g.33446702A=CA1620016959SYNGAP1,SYNGAP1-AS1c.3452A= (p.Tyr1151=)
c.3710A= (p.Tyr1237=)
c.3662A= (p.Tyr1221=)
c.3533A= (p.Tyr1178=)
c.3665A= (p.Tyr1222=)
n.233T=
6g.33446702A>CCA363637492SYNGAP1,SYNGAP1-AS1c.3452A>C (p.Tyr1151Ser)
c.3710A>C (p.Tyr1237Ser)
c.3662A>C (p.Tyr1221Ser)
c.3533A>C (p.Tyr1178Ser)
c.3665A>C (p.Tyr1222Ser)
n.233T>G
6g.33446702A>GCA363637493SYNGAP1,SYNGAP1-AS1c.3452A>G (p.Tyr1151Cys)
c.3710A>G (p.Tyr1237Cys)
c.3662A>G (p.Tyr1221Cys)
c.3533A>G (p.Tyr1178Cys)
c.3665A>G (p.Tyr1222Cys)
n.233T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33446702A>TCA363637497SYNGAP1,SYNGAP1-AS1c.3452A>T (p.Tyr1151Phe)
c.3710A>T (p.Tyr1237Phe)
c.3662A>T (p.Tyr1221Phe)
c.3533A>T (p.Tyr1178Phe)
c.3665A>T (p.Tyr1222Phe)
n.233T>A
6g.33446703T>ACA363637501SYNGAP1,SYNGAP1-AS1c.3453T>A (p.Tyr1151Ter)
c.3711T>A (p.Tyr1237Ter)
c.3663T>A (p.Tyr1221Ter)
c.3534T>A (p.Tyr1178Ter)
c.3666T>A (p.Tyr1222Ter)
n.232A>T
 ClinVar
6g.33446703T>CCA449839689SYNGAP1,SYNGAP1-AS1c.3453T>C (p.Tyr1151=)
c.3711T>C (p.Tyr1237=)
c.3663T>C (p.Tyr1221=)
c.3534T>C (p.Tyr1178=)
c.3666T>C (p.Tyr1222=)
n.232A>G
6g.33446703T>GCA363637504SYNGAP1,SYNGAP1-AS1c.3453T>G (p.Tyr1151Ter)
c.3711T>G (p.Tyr1237Ter)
c.3663T>G (p.Tyr1221Ter)
c.3534T>G (p.Tyr1178Ter)
c.3666T>G (p.Tyr1222Ter)
n.232A>C
6g.33446704C>ACA363637517SYNGAP1,SYNGAP1-AS1c.3454C>A (p.Gln1152Lys)
c.3712C>A (p.Gln1238Lys)
c.3664C>A (p.Gln1222Lys)
c.3535C>A (p.Gln1179Lys)
c.3667C>A (p.Gln1223Lys)
n.231G>T
6g.33446704C=CA1620016962SYNGAP1,SYNGAP1-AS1c.3454C= (p.Gln1152=)
c.3712C= (p.Gln1238=)
c.3664C= (p.Gln1222=)
c.3535C= (p.Gln1179=)
c.3667C= (p.Gln1223=)
n.231G=
6g.33446704C>GCA363637516SYNGAP1,SYNGAP1-AS1c.3454C>G (p.Gln1152Glu)
c.3712C>G (p.Gln1238Glu)
c.3664C>G (p.Gln1222Glu)
c.3535C>G (p.Gln1179Glu)
c.3667C>G (p.Gln1223Glu)
n.231G>C
6g.33446704C>TCA363637508SYNGAP1,SYNGAP1-AS1c.3454C>T (p.Gln1152Ter)
c.3712C>T (p.Gln1238Ter)
c.3664C>T (p.Gln1222Ter)
c.3535C>T (p.Gln1179Ter)
c.3667C>T (p.Gln1223Ter)
n.231G>A
 dbSNP
6g.33446705A>CCA363637518SYNGAP1,SYNGAP1-AS1c.3455A>C (p.Gln1152Pro)
c.3713A>C (p.Gln1238Pro)
c.3665A>C (p.Gln1222Pro)
c.3536A>C (p.Gln1179Pro)
c.3668A>C (p.Gln1223Pro)
n.230T>G
6g.33446705A>GCA363637519SYNGAP1,SYNGAP1-AS1c.3455A>G (p.Gln1152Arg)
c.3713A>G (p.Gln1238Arg)
c.3665A>G (p.Gln1222Arg)
c.3536A>G (p.Gln1179Arg)
c.3668A>G (p.Gln1223Arg)
n.230T>C
6g.33446705A>TCA363637522SYNGAP1,SYNGAP1-AS1c.3455A>T (p.Gln1152Leu)
c.3713A>T (p.Gln1238Leu)
c.3665A>T (p.Gln1222Leu)
c.3536A>T (p.Gln1179Leu)
c.3668A>T (p.Gln1223Leu)
n.230T>A
6g.33446706G>ACA449839690SYNGAP1,SYNGAP1-AS1c.3456G>A (p.Gln1152=)
c.3714G>A (p.Gln1238=)
c.3666G>A (p.Gln1222=)
c.3537G>A (p.Gln1179=)
c.3669G>A (p.Gln1223=)
n.229C>T
 ClinVar dbSNP gnomAD v4
6g.33446706G>CCA363637527SYNGAP1,SYNGAP1-AS1c.3456G>C (p.Gln1152His)
c.3714G>C (p.Gln1238His)
c.3666G>C (p.Gln1222His)
c.3537G>C (p.Gln1179His)
c.3669G>C (p.Gln1223His)
n.229C>G
 dbSNP gnomAD v2 gnomAD v4
6g.33446706G=CA1620016966SYNGAP1,SYNGAP1-AS1c.3456G= (p.Gln1152=)
c.3714G= (p.Gln1238=)
c.3666G= (p.Gln1222=)
c.3537G= (p.Gln1179=)
c.3669G= (p.Gln1223=)
n.229C=
6g.33446706G>TCA363637529SYNGAP1,SYNGAP1-AS1c.3456G>T (p.Gln1152His)
c.3714G>T (p.Gln1238His)
c.3666G>T (p.Gln1222His)
c.3537G>T (p.Gln1179His)
c.3669G>T (p.Gln1223His)
n.229C>A
6g.33446707G>ACA363637538SYNGAP1,SYNGAP1-AS1c.3457G>A (p.Ala1153Thr)
c.3715G>A (p.Ala1239Thr)
c.3667G>A (p.Ala1223Thr)
c.3538G>A (p.Ala1180Thr)
c.3670G>A (p.Ala1224Thr)
n.228C>T
6g.33446707G>CCA363637541SYNGAP1,SYNGAP1-AS1c.3457G>C (p.Ala1153Pro)
c.3715G>C (p.Ala1239Pro)
c.3667G>C (p.Ala1223Pro)
c.3538G>C (p.Ala1180Pro)
c.3670G>C (p.Ala1224Pro)
n.228C>G
6g.33446707G>TCA363637542SYNGAP1,SYNGAP1-AS1c.3457G>T (p.Ala1153Ser)
c.3715G>T (p.Ala1239Ser)
c.3667G>T (p.Ala1223Ser)
c.3538G>T (p.Ala1180Ser)
c.3670G>T (p.Ala1224Ser)
n.228C>A
6g.33446708C>ACA363637545SYNGAP1,SYNGAP1-AS1c.3458C>A (p.Ala1153Asp)
c.3716C>A (p.Ala1239Asp)
c.3668C>A (p.Ala1223Asp)
c.3539C>A (p.Ala1180Asp)
c.3671C>A (p.Ala1224Asp)
n.227G>T
6g.33446708C>GCA363637548SYNGAP1,SYNGAP1-AS1c.3458C>G (p.Ala1153Gly)
c.3716C>G (p.Ala1239Gly)
c.3668C>G (p.Ala1223Gly)
c.3539C>G (p.Ala1180Gly)
c.3671C>G (p.Ala1224Gly)
n.227G>C
6g.33446708C>TCA363637550SYNGAP1,SYNGAP1-AS1c.3458C>T (p.Ala1153Val)
c.3716C>T (p.Ala1239Val)
c.3668C>T (p.Ala1223Val)
c.3539C>T (p.Ala1180Val)
c.3671C>T (p.Ala1224Val)
n.227G>A
6g.33446709C>ACA449839691SYNGAP1,SYNGAP1-AS1c.3459C>A (p.Ala1153=)
c.3717C>A (p.Ala1239=)
c.3669C>A (p.Ala1223=)
c.3540C>A (p.Ala1180=)
c.3672C>A (p.Ala1224=)
n.226G>T
6g.33446709C>GCA449839692SYNGAP1,SYNGAP1-AS1c.3459C>G (p.Ala1153=)
c.3717C>G (p.Ala1239=)
c.3669C>G (p.Ala1223=)
c.3540C>G (p.Ala1180=)
c.3672C>G (p.Ala1224=)
n.226G>C
6g.33446709C>TCA449839693SYNGAP1,SYNGAP1-AS1c.3459C>T (p.Ala1153=)
c.3717C>T (p.Ala1239=)
c.3669C>T (p.Ala1223=)
c.3540C>T (p.Ala1180=)
c.3672C>T (p.Ala1224=)
n.226G>A
 gnomAD v4
6g.33446710C>ACA449839694SYNGAP1,SYNGAP1-AS1c.3460C>A (p.Arg1154=)
c.3718C>A (p.Arg1240=)
c.3670C>A (p.Arg1224=)
c.3541C>A (p.Arg1181=)
c.3673C>A (p.Arg1225=)
n.225G>T
6g.33446710C=CA1620016971SYNGAP1,SYNGAP1-AS1c.3460C= (p.Arg1154=)
c.3718C= (p.Arg1240=)
c.3670C= (p.Arg1224=)
c.3541C= (p.Arg1181=)
c.3673C= (p.Arg1225=)
n.225G=
6g.33446710C>GCA363637553SYNGAP1,SYNGAP1-AS1c.3460C>G (p.Arg1154Gly)
c.3718C>G (p.Arg1240Gly)
c.3670C>G (p.Arg1224Gly)
c.3541C>G (p.Arg1181Gly)
c.3673C>G (p.Arg1225Gly)
n.225G>C
6g.33446710C>TCA358213SYNGAP1,SYNGAP1-AS1c.3460C>T (p.Arg1154Ter)
c.3718C>T (p.Arg1240Ter)
c.3670C>T (p.Arg1224Ter)
c.3541C>T (p.Arg1181Ter)
c.3673C>T (p.Arg1225Ter)
n.225G>A
 ClinVar dbSNP

Number of alleles fetched