Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.33446711G>ACA363637564SYNGAP1,SYNGAP1-AS1c.3461G>A (p.Arg1154Gln)
c.3719G>A (p.Arg1240Gln)
c.3671G>A (p.Arg1224Gln)
n.1G>A
c.3542G>A (p.Arg1181Gln)
c.3674G>A (p.Arg1225Gln)
n.224C>T
 gnomAD v4
6g.33446711G>CCA363637562SYNGAP1,SYNGAP1-AS1c.3461G>C (p.Arg1154Pro)
c.3719G>C (p.Arg1240Pro)
c.3671G>C (p.Arg1224Pro)
n.1G>C
c.3542G>C (p.Arg1181Pro)
c.3674G>C (p.Arg1225Pro)
n.224C>G
6g.33446711G>TCA363637558SYNGAP1,SYNGAP1-AS1c.3461G>T (p.Arg1154Leu)
c.3719G>T (p.Arg1240Leu)
c.3671G>T (p.Arg1224Leu)
n.1G>T
c.3542G>T (p.Arg1181Leu)
c.3674G>T (p.Arg1225Leu)
n.224C>A
6g.33446712A>CCA449839696SYNGAP1,SYNGAP1-AS1c.3462A>C (p.Arg1154=)
c.3720A>C (p.Arg1240=)
c.3672A>C (p.Arg1224=)
n.2A>C
c.3543A>C (p.Arg1181=)
c.3675A>C (p.Arg1225=)
n.223T>G
6g.33446712A>GCA449839697SYNGAP1,SYNGAP1-AS1c.3462A>G (p.Arg1154=)
c.3720A>G (p.Arg1240=)
c.3672A>G (p.Arg1224=)
n.2A>G
c.3543A>G (p.Arg1181=)
c.3675A>G (p.Arg1225=)
n.223T>C
6g.33446712A>TCA449839695SYNGAP1,SYNGAP1-AS1c.3462A>T (p.Arg1154=)
c.3720A>T (p.Arg1240=)
c.3672A>T (p.Arg1224=)
n.2A>T
c.3543A>T (p.Arg1181=)
c.3675A>T (p.Arg1225=)
n.223T>A
6g.33446713C>ACA363637567SYNGAP1,SYNGAP1-AS1c.3463C>A (p.Leu1155Met)
c.3721C>A (p.Leu1241Met)
c.3673C>A (p.Leu1225Met)
n.3C>A
c.3544C>A (p.Leu1182Met)
c.3676C>A (p.Leu1226Met)
n.222G>T
6g.33446713C>GCA363637571SYNGAP1,SYNGAP1-AS1c.3463C>G (p.Leu1155Val)
c.3721C>G (p.Leu1241Val)
c.3673C>G (p.Leu1225Val)
n.3C>G
c.3544C>G (p.Leu1182Val)
c.3676C>G (p.Leu1226Val)
n.222G>C
6g.33446713C>TCA449839698SYNGAP1,SYNGAP1-AS1c.3463C>T (p.Leu1155=)
c.3721C>T (p.Leu1241=)
c.3673C>T (p.Leu1225=)
n.3C>T
c.3544C>T (p.Leu1182=)
c.3676C>T (p.Leu1226=)
n.222G>A
 gnomAD v4
6g.33446713_33446715delinsCTGCA1620016972SYNGAP1,SYNGAP1-AS1c.3463_3465delinsCTG (p.Leu1155=)
c.3721_3723delinsCTG (p.Leu1241=)
c.3673_3675delinsCTG (p.Leu1225=)
n.3_5delinsCTG
c.3544_3546delinsCTG (p.Leu1182=)
c.3676_3678delinsCTG (p.Leu1226=)
n.220_222delinsCAG
6g.33446714T>ACA363637575SYNGAP1,SYNGAP1-AS1c.3464T>A (p.Leu1155Gln)
c.3722T>A (p.Leu1241Gln)
c.3674T>A (p.Leu1225Gln)
n.4T>A
c.3545T>A (p.Leu1182Gln)
c.3677T>A (p.Leu1226Gln)
n.221A>T
6g.33446714T>CCA363637579SYNGAP1,SYNGAP1-AS1c.3464T>C (p.Leu1155Pro)
c.3722T>C (p.Leu1241Pro)
c.3674T>C (p.Leu1225Pro)
n.4T>C
c.3545T>C (p.Leu1182Pro)
c.3677T>C (p.Leu1226Pro)
n.221A>G
6g.33446714T>GCA363637584SYNGAP1,SYNGAP1-AS1c.3464T>G (p.Leu1155Arg)
c.3722T>G (p.Leu1241Arg)
c.3674T>G (p.Leu1225Arg)
n.4T>G
c.3545T>G (p.Leu1182Arg)
c.3677T>G (p.Leu1226Arg)
n.221A>C
6g.33446714_33446715delCA645372820SYNGAP1,SYNGAP1-AS1c.3464_3465del (p.Leu1155ArgfsTer4)
c.3722_3723del (p.Leu1241ArgfsTer4)
c.3674_3675del (p.Leu1225ArgfsTer4)
n.4_5del
c.3545_3546del (p.Leu1182ArgfsTer4)
c.3677_3678del (p.Leu1226ArgfsTer4)
n.220_221del
 ClinVar dbSNP
6g.33446715G>ACA449839699SYNGAP1,SYNGAP1-AS1c.3465G>A (p.Leu1155=)
c.3723G>A (p.Leu1241=)
c.3675G>A (p.Leu1225=)
n.5G>A
c.3546G>A (p.Leu1182=)
c.3678G>A (p.Leu1226=)
n.220C>T
 ClinVar dbSNP
6g.33446715G>CCA449839700SYNGAP1,SYNGAP1-AS1c.3465G>C (p.Leu1155=)
c.3723G>C (p.Leu1241=)
c.3675G>C (p.Leu1225=)
n.5G>C
c.3546G>C (p.Leu1182=)
c.3678G>C (p.Leu1226=)
n.220C>G
6g.33446715G>TCA449839701SYNGAP1,SYNGAP1-AS1c.3465G>T (p.Leu1155=)
c.3723G>T (p.Leu1241=)
c.3675G>T (p.Leu1225=)
n.5G>T
c.3546G>T (p.Leu1182=)
c.3678G>T (p.Leu1226=)
n.220C>A
6g.33446716G>ACA363637588SYNGAP1,SYNGAP1-AS1c.3466G>A (p.Glu1156Lys)
c.3724G>A (p.Glu1242Lys)
c.3676G>A (p.Glu1226Lys)
n.6G>A
c.3547G>A (p.Glu1183Lys)
c.3679G>A (p.Glu1227Lys)
n.219C>T
 gnomAD v4
6g.33446716G>CCA363637590SYNGAP1,SYNGAP1-AS1c.3466G>C (p.Glu1156Gln)
c.3724G>C (p.Glu1242Gln)
c.3676G>C (p.Glu1226Gln)
n.6G>C
c.3547G>C (p.Glu1183Gln)
c.3679G>C (p.Glu1227Gln)
n.219C>G
6g.33446716G=CA1620016977SYNGAP1,SYNGAP1-AS1c.3466G= (p.Glu1156=)
c.3724G= (p.Glu1242=)
c.3676G= (p.Glu1226=)
n.6G=
c.3547G= (p.Glu1183=)
c.3679G= (p.Glu1227=)
n.219C=
6g.33446716G>TCA363637599SYNGAP1,SYNGAP1-AS1c.3466G>T (p.Glu1156Ter)
c.3724G>T (p.Glu1242Ter)
c.3676G>T (p.Glu1226Ter)
n.6G>T
c.3547G>T (p.Glu1183Ter)
c.3679G>T (p.Glu1227Ter)
n.219C>A
 dbSNP
6g.33446717A>CCA363637601SYNGAP1,SYNGAP1-AS1c.3467A>C (p.Glu1156Ala)
c.3725A>C (p.Glu1242Ala)
c.3677A>C (p.Glu1226Ala)
n.7A>C
c.3548A>C (p.Glu1183Ala)
c.3680A>C (p.Glu1227Ala)
n.218T>G
6g.33446717A>GCA363637603SYNGAP1,SYNGAP1-AS1c.3467A>G (p.Glu1156Gly)
c.3725A>G (p.Glu1242Gly)
c.3677A>G (p.Glu1226Gly)
n.7A>G
c.3548A>G (p.Glu1183Gly)
c.3680A>G (p.Glu1227Gly)
n.218T>C
6g.33446717A>TCA363637606SYNGAP1,SYNGAP1-AS1c.3467A>T (p.Glu1156Val)
c.3725A>T (p.Glu1242Val)
c.3677A>T (p.Glu1226Val)
n.7A>T
c.3548A>T (p.Glu1183Val)
c.3680A>T (p.Glu1227Val)
n.218T>A
6g.33446718G>ACA449839702SYNGAP1,SYNGAP1-AS1c.3468G>A (p.Glu1156=)
c.3726G>A (p.Glu1242=)
c.3678G>A (p.Glu1226=)
n.8G>A
c.3549G>A (p.Glu1183=)
c.3681G>A (p.Glu1227=)
n.217C>T
 ClinVar
6g.33446718G>CCA363637611SYNGAP1,SYNGAP1-AS1c.3468G>C (p.Glu1156Asp)
c.3726G>C (p.Glu1242Asp)
c.3678G>C (p.Glu1226Asp)
n.8G>C
c.3549G>C (p.Glu1183Asp)
c.3681G>C (p.Glu1227Asp)
n.217C>G
6g.33446718G>TCA363637614SYNGAP1,SYNGAP1-AS1c.3468G>T (p.Glu1156Asp)
c.3726G>T (p.Glu1242Asp)
c.3678G>T (p.Glu1226Asp)
n.8G>T
c.3549G>T (p.Glu1183Asp)
c.3681G>T (p.Glu1227Asp)
n.217C>A
6g.33446719C>ACA363637634SYNGAP1,SYNGAP1-AS1c.3469C>A (p.Gln1157Lys)
c.3727C>A (p.Gln1243Lys)
c.3679C>A (p.Gln1227Lys)
n.9C>A
c.3550C>A (p.Gln1184Lys)
c.3682C>A (p.Gln1228Lys)
n.216G>T
 gnomAD v4
6g.33446719C=CA1620016981SYNGAP1,SYNGAP1-AS1c.3469C= (p.Gln1157=)
c.3727C= (p.Gln1243=)
c.3679C= (p.Gln1227=)
n.9C=
c.3550C= (p.Gln1184=)
c.3682C= (p.Gln1228=)
n.216G=
6g.33446719C>GCA363637631SYNGAP1,SYNGAP1-AS1c.3469C>G (p.Gln1157Glu)
c.3727C>G (p.Gln1243Glu)
c.3679C>G (p.Gln1227Glu)
n.9C>G
c.3550C>G (p.Gln1184Glu)
c.3682C>G (p.Gln1228Glu)
n.216G>C
6g.33446719C>TCA363637619SYNGAP1,SYNGAP1-AS1c.3469C>T (p.Gln1157Ter)
c.3727C>T (p.Gln1243Ter)
c.3679C>T (p.Gln1227Ter)
n.9C>T
c.3550C>T (p.Gln1184Ter)
c.3682C>T (p.Gln1228Ter)
n.216G>A
 dbSNP
6g.33446720A=CA1620016986SYNGAP1,SYNGAP1-AS1c.3470A= (p.Gln1157=)
c.3728A= (p.Gln1243=)
c.3680A= (p.Gln1227=)
n.10A=
c.3551A= (p.Gln1184=)
c.3683A= (p.Gln1228=)
n.215T=
6g.33446720A>CCA363637640SYNGAP1,SYNGAP1-AS1c.3470A>C (p.Gln1157Pro)
c.3728A>C (p.Gln1243Pro)
c.3680A>C (p.Gln1227Pro)
n.10A>C
c.3551A>C (p.Gln1184Pro)
c.3683A>C (p.Gln1228Pro)
n.215T>G
6g.33446720A>GCA3759085SYNGAP1,SYNGAP1-AS1c.3470A>G (p.Gln1157Arg)
c.3728A>G (p.Gln1243Arg)
c.3680A>G (p.Gln1227Arg)
n.10A>G
c.3551A>G (p.Gln1184Arg)
c.3683A>G (p.Gln1228Arg)
n.215T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446720A>TCA363637646SYNGAP1,SYNGAP1-AS1c.3470A>T (p.Gln1157Leu)
c.3728A>T (p.Gln1243Leu)
c.3680A>T (p.Gln1227Leu)
n.10A>T
c.3551A>T (p.Gln1184Leu)
c.3683A>T (p.Gln1228Leu)
n.215T>A
6g.33446720_33446724delinsAGAGTCA1620016988SYNGAP1,SYNGAP1-AS1c.3470_3474delinsAGAGT (p.Gln1157=)
c.3728_3732delinsAGAGT (p.Gln1243=)
c.3680_3684delinsAGAGT (p.Gln1227=)
n.10_14delinsAGAGT
c.3551_3555delinsAGAGT (p.Gln1184=)
c.3683_3687delinsAGAGT (p.Gln1228=)
n.211_215delinsACTCT
6g.33446721G>ACA3759086SYNGAP1,SYNGAP1-AS1c.3471G>A (p.Gln1157=)
c.3729G>A (p.Gln1243=)
c.3681G>A (p.Gln1227=)
n.11G>A
c.3552G>A (p.Gln1184=)
c.3684G>A (p.Gln1228=)
n.214C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446721G>CCA363637649SYNGAP1,SYNGAP1-AS1c.3471G>C (p.Gln1157His)
c.3729G>C (p.Gln1243His)
c.3681G>C (p.Gln1227His)
n.11G>C
c.3552G>C (p.Gln1184His)
c.3684G>C (p.Gln1228His)
n.214C>G
 gnomAD v4
6g.33446721G=CA1620016997SYNGAP1,SYNGAP1-AS1c.3471G= (p.Gln1157=)
c.3729G= (p.Gln1243=)
c.3681G= (p.Gln1227=)
n.11G=
c.3552G= (p.Gln1184=)
c.3684G= (p.Gln1228=)
n.214C=
6g.33446721G>TCA363637652SYNGAP1,SYNGAP1-AS1c.3471G>T (p.Gln1157His)
c.3729G>T (p.Gln1243His)
c.3681G>T (p.Gln1227His)
n.11G>T
c.3552G>T (p.Gln1184His)
c.3684G>T (p.Gln1228His)
n.214C>A
6g.33446724_33446727delCA1139659355SYNGAP1,SYNGAP1-AS1c.3474_3477del (p.Ser1158ArgfsTer4)
c.3732_3735del (p.Ser1244ArgfsTer4)
c.3684_3687del (p.Ser1228ArgfsTer4)
n.14_17del
c.3555_3558del (p.Ser1185ArgfsTer4)
c.3687_3690del (p.Ser1229ArgfsTer4)
n.211_214del
 ClinVar dbSNP
6g.33446722A>CCA363637657SYNGAP1,SYNGAP1-AS1c.3472A>C (p.Ser1158Arg)
c.3730A>C (p.Ser1244Arg)
c.3682A>C (p.Ser1228Arg)
n.12A>C
c.3553A>C (p.Ser1185Arg)
c.3685A>C (p.Ser1229Arg)
n.213T>G
6g.33446722A>GCA363637659SYNGAP1,SYNGAP1-AS1c.3472A>G (p.Ser1158Gly)
c.3730A>G (p.Ser1244Gly)
c.3682A>G (p.Ser1228Gly)
n.12A>G
c.3553A>G (p.Ser1185Gly)
c.3685A>G (p.Ser1229Gly)
n.213T>C
6g.33446722A>TCA363637661SYNGAP1,SYNGAP1-AS1c.3472A>T (p.Ser1158Cys)
c.3730A>T (p.Ser1244Cys)
c.3682A>T (p.Ser1228Cys)
n.12A>T
c.3553A>T (p.Ser1185Cys)
c.3685A>T (p.Ser1229Cys)
n.213T>A
6g.33446723G>ACA363637664SYNGAP1,SYNGAP1-AS1c.3473G>A (p.Ser1158Asn)
c.3731G>A (p.Ser1244Asn)
c.3683G>A (p.Ser1228Asn)
n.13G>A
c.3554G>A (p.Ser1185Asn)
c.3686G>A (p.Ser1229Asn)
n.212C>T
 ClinVar dbSNP
6g.33446723G>CCA363637665SYNGAP1,SYNGAP1-AS1c.3473G>C (p.Ser1158Thr)
c.3731G>C (p.Ser1244Thr)
c.3683G>C (p.Ser1228Thr)
n.13G>C
c.3554G>C (p.Ser1185Thr)
c.3686G>C (p.Ser1229Thr)
n.212C>G
6g.33446723G=CA1620017003SYNGAP1,SYNGAP1-AS1c.3473G= (p.Ser1158=)
c.3731G= (p.Ser1244=)
c.3683G= (p.Ser1228=)
n.13G=
c.3554G= (p.Ser1185=)
c.3686G= (p.Ser1229=)
n.212C=
6g.33446723G>TCA363637666SYNGAP1,SYNGAP1-AS1c.3473G>T (p.Ser1158Ile)
c.3731G>T (p.Ser1244Ile)
c.3683G>T (p.Ser1228Ile)
n.13G>T
c.3554G>T (p.Ser1185Ile)
c.3686G>T (p.Ser1229Ile)
n.212C>A
6g.33446724T>ACA363637667SYNGAP1,SYNGAP1-AS1c.3474T>A (p.Ser1158Arg)
c.3732T>A (p.Ser1244Arg)
c.3684T>A (p.Ser1228Arg)
n.14T>A
c.3555T>A (p.Ser1185Arg)
c.3687T>A (p.Ser1229Arg)
n.211A>T
6g.33446724T>CCA449839703SYNGAP1,SYNGAP1-AS1c.3474T>C (p.Ser1158=)
c.3732T>C (p.Ser1244=)
c.3684T>C (p.Ser1228=)
n.14T>C
c.3555T>C (p.Ser1185=)
c.3687T>C (p.Ser1229=)
n.211A>G
6g.33446724T>GCA363637669SYNGAP1,SYNGAP1-AS1c.3474T>G (p.Ser1158Arg)
c.3732T>G (p.Ser1244Arg)
c.3684T>G (p.Ser1228Arg)
n.14T>G
c.3555T>G (p.Ser1185Arg)
c.3687T>G (p.Ser1229Arg)
n.211A>C
6g.33446725G>ACA363637675SYNGAP1,SYNGAP1-AS1c.3475G>A (p.Glu1159Lys)
c.3733G>A (p.Glu1245Lys)
c.3685G>A (p.Glu1229Lys)
n.15G>A
c.3556G>A (p.Glu1186Lys)
c.3688G>A (p.Glu1230Lys)
n.210C>T
6g.33446725G>CCA363637677SYNGAP1,SYNGAP1-AS1c.3475G>C (p.Glu1159Gln)
c.3733G>C (p.Glu1245Gln)
c.3685G>C (p.Glu1229Gln)
n.15G>C
c.3556G>C (p.Glu1186Gln)
c.3688G>C (p.Glu1230Gln)
n.210C>G
6g.33446725G=CA1620017009SYNGAP1,SYNGAP1-AS1c.3475G= (p.Glu1159=)
c.3733G= (p.Glu1245=)
c.3685G= (p.Glu1229=)
n.15G=
c.3556G= (p.Glu1186=)
c.3688G= (p.Glu1230=)
n.210C=
6g.33446725G>TCA363637672SYNGAP1,SYNGAP1-AS1c.3475G>T (p.Glu1159Ter)
c.3733G>T (p.Glu1245Ter)
c.3685G>T (p.Glu1229Ter)
n.15G>T
c.3556G>T (p.Glu1186Ter)
c.3688G>T (p.Glu1230Ter)
n.210C>A
 dbSNP
6g.33446726A>CCA363637691SYNGAP1,SYNGAP1-AS1c.3476A>C (p.Glu1159Ala)
c.3734A>C (p.Glu1245Ala)
c.3686A>C (p.Glu1229Ala)
n.16A>C
c.3557A>C (p.Glu1186Ala)
c.3689A>C (p.Glu1230Ala)
n.209T>G
6g.33446726A>GCA363637693SYNGAP1,SYNGAP1-AS1c.3476A>G (p.Glu1159Gly)
c.3734A>G (p.Glu1245Gly)
c.3686A>G (p.Glu1229Gly)
n.16A>G
c.3557A>G (p.Glu1186Gly)
c.3689A>G (p.Glu1230Gly)
n.209T>C
6g.33446726A>TCA363637697SYNGAP1,SYNGAP1-AS1c.3476A>T (p.Glu1159Val)
c.3734A>T (p.Glu1245Val)
c.3686A>T (p.Glu1229Val)
n.16A>T
c.3557A>T (p.Glu1186Val)
c.3689A>T (p.Glu1230Val)
n.209T>A
6g.33446727G>ACA449839704SYNGAP1,SYNGAP1-AS1c.3477G>A (p.Glu1159=)
c.3735G>A (p.Glu1245=)
c.3687G>A (p.Glu1229=)
n.17G>A
c.3558G>A (p.Glu1186=)
c.3690G>A (p.Glu1230=)
n.208C>T
6g.33446727G>CCA363637701SYNGAP1,SYNGAP1-AS1c.3477G>C (p.Glu1159Asp)
c.3735G>C (p.Glu1245Asp)
c.3687G>C (p.Glu1229Asp)
n.17G>C
c.3558G>C (p.Glu1186Asp)
c.3690G>C (p.Glu1230Asp)
n.208C>G
6g.33446727G>TCA363637702SYNGAP1,SYNGAP1-AS1c.3477G>T (p.Glu1159Asp)
c.3735G>T (p.Glu1245Asp)
c.3687G>T (p.Glu1229Asp)
n.17G>T
c.3558G>T (p.Glu1186Asp)
c.3690G>T (p.Glu1230Asp)
n.208C>A
6g.33446728A=CA1620017011SYNGAP1,SYNGAP1-AS1c.3478A= (p.Lys1160=)
c.3736A= (p.Lys1246=)
c.3688A= (p.Lys1230=)
n.18A=
c.3559A= (p.Lys1187=)
c.3691A= (p.Lys1231=)
n.207T=
6g.33446728A>CCA363637703SYNGAP1,SYNGAP1-AS1c.3478A>C (p.Lys1160Gln)
c.3736A>C (p.Lys1246Gln)
c.3688A>C (p.Lys1230Gln)
n.18A>C
c.3559A>C (p.Lys1187Gln)
c.3691A>C (p.Lys1231Gln)
n.207T>G
6g.33446728A>GCA363637705SYNGAP1,SYNGAP1-AS1c.3478A>G (p.Lys1160Glu)
c.3736A>G (p.Lys1246Glu)
c.3688A>G (p.Lys1230Glu)
n.18A>G
c.3559A>G (p.Lys1187Glu)
c.3691A>G (p.Lys1231Glu)
n.207T>C
6g.33446728A>TCA363637707SYNGAP1,SYNGAP1-AS1c.3478A>T (p.Lys1160Ter)
c.3736A>T (p.Lys1246Ter)
c.3688A>T (p.Lys1230Ter)
n.18A>T
c.3559A>T (p.Lys1187Ter)
c.3691A>T (p.Lys1231Ter)
n.207T>A
 dbSNP
6g.33446729A>CCA363637708SYNGAP1,SYNGAP1-AS1c.3479A>C (p.Lys1160Thr)
c.3737A>C (p.Lys1246Thr)
c.3689A>C (p.Lys1230Thr)
n.19A>C
c.3560A>C (p.Lys1187Thr)
c.3692A>C (p.Lys1231Thr)
n.206T>G
6g.33446729A>GCA363637711SYNGAP1,SYNGAP1-AS1c.3479A>G (p.Lys1160Arg)
c.3737A>G (p.Lys1246Arg)
c.3689A>G (p.Lys1230Arg)
n.19A>G
c.3560A>G (p.Lys1187Arg)
c.3692A>G (p.Lys1231Arg)
n.206T>C
 gnomAD v4
6g.33446729A>TCA363637713SYNGAP1,SYNGAP1-AS1c.3479A>T (p.Lys1160Met)
c.3737A>T (p.Lys1246Met)
c.3689A>T (p.Lys1230Met)
n.19A>T
c.3560A>T (p.Lys1187Met)
c.3692A>T (p.Lys1231Met)
n.206T>A
6g.33446730G>ACA449839705SYNGAP1,SYNGAP1-AS1c.3480G>A (p.Lys1160=)
c.3738G>A (p.Lys1246=)
c.3690G>A (p.Lys1230=)
n.20G>A
c.3561G>A (p.Lys1187=)
c.3693G>A (p.Lys1231=)
n.205C>T
 ClinVar dbSNP
6g.33446730G>CCA363637716SYNGAP1,SYNGAP1-AS1c.3480G>C (p.Lys1160Asn)
c.3738G>C (p.Lys1246Asn)
c.3690G>C (p.Lys1230Asn)
n.20G>C
c.3561G>C (p.Lys1187Asn)
c.3693G>C (p.Lys1231Asn)
n.205C>G
6g.33446730G=CA1620017015SYNGAP1,SYNGAP1-AS1c.3480G= (p.Lys1160=)
c.3738G= (p.Lys1246=)
c.3690G= (p.Lys1230=)
n.20G=
c.3561G= (p.Lys1187=)
c.3693G= (p.Lys1231=)
n.205C=
6g.33446730G>TCA363637718SYNGAP1,SYNGAP1-AS1c.3480G>T (p.Lys1160Asn)
c.3738G>T (p.Lys1246Asn)
c.3690G>T (p.Lys1230Asn)
n.20G>T
c.3561G>T (p.Lys1187Asn)
c.3693G>T (p.Lys1231Asn)
n.205C>A
6g.33446731A>CCA449839706SYNGAP1,SYNGAP1-AS1c.3481A>C (p.Arg1161=)
c.3739A>C (p.Arg1247=)
c.3691A>C (p.Arg1231=)
n.21A>C
c.3562A>C (p.Arg1188=)
c.3694A>C (p.Arg1232=)
n.204T>G
6g.33446731A>GCA363637722SYNGAP1,SYNGAP1-AS1c.3481A>G (p.Arg1161Gly)
c.3739A>G (p.Arg1247Gly)
c.3691A>G (p.Arg1231Gly)
n.21A>G
c.3562A>G (p.Arg1188Gly)
c.3694A>G (p.Arg1232Gly)
n.204T>C
6g.33446731A>TCA363637720SYNGAP1,SYNGAP1-AS1c.3481A>T (p.Arg1161Trp)
c.3739A>T (p.Arg1247Trp)
c.3691A>T (p.Arg1231Trp)
n.21A>T
c.3562A>T (p.Arg1188Trp)
c.3694A>T (p.Arg1232Trp)
n.204T>A
6g.33446732G>ACA363637727SYNGAP1,SYNGAP1-AS1c.3482G>A (p.Arg1161Lys)
c.3740G>A (p.Arg1247Lys)
c.3692G>A (p.Arg1231Lys)
n.22G>A
c.3563G>A (p.Arg1188Lys)
c.3695G>A (p.Arg1232Lys)
n.203C>T
 gnomAD v4
6g.33446732G>CCA363637730SYNGAP1,SYNGAP1-AS1c.3482G>C (p.Arg1161Thr)
c.3740G>C (p.Arg1247Thr)
c.3692G>C (p.Arg1231Thr)
n.22G>C
c.3563G>C (p.Arg1188Thr)
c.3695G>C (p.Arg1232Thr)
n.203C>G
6g.33446732G>TCA363637733SYNGAP1,SYNGAP1-AS1c.3482G>T (p.Arg1161Met)
c.3740G>T (p.Arg1247Met)
c.3692G>T (p.Arg1231Met)
n.22G>T
c.3563G>T (p.Arg1188Met)
c.3695G>T (p.Arg1232Met)
n.203C>A
6g.33446733G>ACA449839707SYNGAP1,SYNGAP1-AS1c.3483G>A (p.Arg1161=)
c.3741G>A (p.Arg1247=)
c.3693G>A (p.Arg1231=)
n.23G>A
c.3564G>A (p.Arg1188=)
c.3696G>A (p.Arg1232=)
n.202C>T
 gnomAD v4
6g.33446733G>CCA363637738SYNGAP1,SYNGAP1-AS1c.3483G>C (p.Arg1161Ser)
c.3741G>C (p.Arg1247Ser)
c.3693G>C (p.Arg1231Ser)
n.23G>C
c.3564G>C (p.Arg1188Ser)
c.3696G>C (p.Arg1232Ser)
n.202C>G
6g.33446733G>TCA363637741SYNGAP1,SYNGAP1-AS1c.3483G>T (p.Arg1161Ser)
c.3741G>T (p.Arg1247Ser)
c.3693G>T (p.Arg1231Ser)
n.23G>T
c.3564G>T (p.Arg1188Ser)
c.3696G>T (p.Arg1232Ser)
n.202C>A
6g.33446734C>ACA363637744SYNGAP1,SYNGAP1-AS1c.3484C>A (p.Leu1162Ile)
c.3742C>A (p.Leu1248Ile)
c.3694C>A (p.Leu1232Ile)
n.24C>A
c.3565C>A (p.Leu1189Ile)
c.3697C>A (p.Leu1233Ile)
n.201G>T
6g.33446734C>GCA363637747SYNGAP1,SYNGAP1-AS1c.3484C>G (p.Leu1162Val)
c.3742C>G (p.Leu1248Val)
c.3694C>G (p.Leu1232Val)
n.24C>G
c.3565C>G (p.Leu1189Val)
c.3697C>G (p.Leu1233Val)
n.201G>C
6g.33446734C>TCA449839708SYNGAP1,SYNGAP1-AS1c.3484C>T (p.Leu1162=)
c.3742C>T (p.Leu1248=)
c.3694C>T (p.Leu1232=)
n.24C>T
c.3565C>T (p.Leu1189=)
c.3697C>T (p.Leu1233=)
n.201G>A
6g.33446735T>ACA363637751SYNGAP1,SYNGAP1-AS1c.3485T>A (p.Leu1162Gln)
c.3743T>A (p.Leu1248Gln)
c.3695T>A (p.Leu1232Gln)
n.25T>A
c.3566T>A (p.Leu1189Gln)
c.3698T>A (p.Leu1233Gln)
n.200A>T
6g.33446735T>CCA363637754SYNGAP1,SYNGAP1-AS1c.3485T>C (p.Leu1162Pro)
c.3743T>C (p.Leu1248Pro)
c.3695T>C (p.Leu1232Pro)
n.25T>C
c.3566T>C (p.Leu1189Pro)
c.3698T>C (p.Leu1233Pro)
n.200A>G
6g.33446735T>GCA363637758SYNGAP1,SYNGAP1-AS1c.3485T>G (p.Leu1162Arg)
c.3743T>G (p.Leu1248Arg)
c.3695T>G (p.Leu1232Arg)
n.25T>G
c.3566T>G (p.Leu1189Arg)
c.3698T>G (p.Leu1233Arg)
n.200A>C
6g.33446736A=CA1620017017SYNGAP1,SYNGAP1-AS1c.3486A= (p.Leu1162=)
c.3744A= (p.Leu1248=)
c.3696A= (p.Leu1232=)
n.26A=
c.3567A= (p.Leu1189=)
c.3699A= (p.Leu1233=)
n.199T=
6g.33446736A>CCA449839709SYNGAP1,SYNGAP1-AS1c.3486A>C (p.Leu1162=)
c.3744A>C (p.Leu1248=)
c.3696A>C (p.Leu1232=)
n.26A>C
c.3567A>C (p.Leu1189=)
c.3699A>C (p.Leu1233=)
n.199T>G
6g.33446736A>GCA449839710SYNGAP1,SYNGAP1-AS1c.3486A>G (p.Leu1162=)
c.3744A>G (p.Leu1248=)
c.3696A>G (p.Leu1232=)
n.26A>G
c.3567A>G (p.Leu1189=)
c.3699A>G (p.Leu1233=)
n.199T>C
 dbSNP gnomAD v3 gnomAD v4
6g.33446736A>TCA449839711SYNGAP1,SYNGAP1-AS1c.3486A>T (p.Leu1162=)
c.3744A>T (p.Leu1248=)
c.3696A>T (p.Leu1232=)
n.26A>T
c.3567A>T (p.Leu1189=)
c.3699A>T (p.Leu1233=)
n.199T>A
 gnomAD v4
6g.33446737A>CCA449839712SYNGAP1,SYNGAP1-AS1c.3487A>C (p.Arg1163=)
c.3745A>C (p.Arg1249=)
c.3697A>C (p.Arg1233=)
n.27A>C
c.3568A>C (p.Arg1190=)
c.3700A>C (p.Arg1234=)
n.198T>G
6g.33446737A>GCA363637761SYNGAP1,SYNGAP1-AS1c.3487A>G (p.Arg1163Gly)
c.3745A>G (p.Arg1249Gly)
c.3697A>G (p.Arg1233Gly)
n.27A>G
c.3568A>G (p.Arg1190Gly)
c.3700A>G (p.Arg1234Gly)
n.198T>C
6g.33446737A>TCA363637765SYNGAP1,SYNGAP1-AS1c.3487A>T (p.Arg1163Trp)
c.3745A>T (p.Arg1249Trp)
c.3697A>T (p.Arg1233Trp)
n.27A>T
c.3568A>T (p.Arg1190Trp)
c.3700A>T (p.Arg1234Trp)
n.198T>A
6g.33446738G>ACA363637770SYNGAP1,SYNGAP1-AS1c.3488G>A (p.Arg1163Lys)
c.3746G>A (p.Arg1249Lys)
c.3698G>A (p.Arg1233Lys)
n.28G>A
c.3569G>A (p.Arg1190Lys)
c.3701G>A (p.Arg1234Lys)
n.197C>T
6g.33446738G>CCA363637776SYNGAP1,SYNGAP1-AS1c.3488G>C (p.Arg1163Thr)
c.3746G>C (p.Arg1249Thr)
c.3698G>C (p.Arg1233Thr)
n.28G>C
c.3569G>C (p.Arg1190Thr)
c.3701G>C (p.Arg1234Thr)
n.197C>G
6g.33446738G>TCA363637774SYNGAP1,SYNGAP1-AS1c.3488G>T (p.Arg1163Met)
c.3746G>T (p.Arg1249Met)
c.3698G>T (p.Arg1233Met)
n.28G>T
c.3569G>T (p.Arg1190Met)
c.3701G>T (p.Arg1234Met)
n.197C>A
6g.33446739G>ACA449839713SYNGAP1,SYNGAP1-AS1c.3489G>A (p.Arg1163=)
c.3747G>A (p.Arg1249=)
c.3699G>A (p.Arg1233=)
n.29G>A
c.3570G>A (p.Arg1190=)
c.3702G>A (p.Arg1234=)
n.196C>T
6g.33446739G>CCA363637780SYNGAP1,SYNGAP1-AS1c.3489G>C (p.Arg1163Ser)
c.3747G>C (p.Arg1249Ser)
c.3699G>C (p.Arg1233Ser)
n.29G>C
c.3570G>C (p.Arg1190Ser)
c.3702G>C (p.Arg1234Ser)
n.196C>G
6g.33446739G>TCA363637782SYNGAP1,SYNGAP1-AS1c.3489G>T (p.Arg1163Ser)
c.3747G>T (p.Arg1249Ser)
c.3699G>T (p.Arg1233Ser)
n.29G>T
c.3570G>T (p.Arg1190Ser)
c.3702G>T (p.Arg1234Ser)
n.196C>A
6g.33446740C>ACA363637786SYNGAP1,SYNGAP1-AS1c.3490C>A (p.Gln1164Lys)
c.3748C>A (p.Gln1250Lys)
c.3700C>A (p.Gln1234Lys)
n.30C>A
c.3571C>A (p.Gln1191Lys)
c.3703C>A (p.Gln1235Lys)
n.195G>T
6g.33446740C>GCA363637792SYNGAP1,SYNGAP1-AS1c.3490C>G (p.Gln1164Glu)
c.3748C>G (p.Gln1250Glu)
c.3700C>G (p.Gln1234Glu)
n.30C>G
c.3571C>G (p.Gln1191Glu)
c.3703C>G (p.Gln1235Glu)
n.195G>C
6g.33446740C>TCA363637789SYNGAP1,SYNGAP1-AS1c.3490C>T (p.Gln1164Ter)
c.3748C>T (p.Gln1250Ter)
c.3700C>T (p.Gln1234Ter)
n.30C>T
c.3571C>T (p.Gln1191Ter)
c.3703C>T (p.Gln1235Ter)
n.195G>A
6g.33446741A>CCA363637795SYNGAP1,SYNGAP1-AS1c.3491A>C (p.Gln1164Pro)
c.3749A>C (p.Gln1250Pro)
c.3701A>C (p.Gln1234Pro)
n.31A>C
c.3572A>C (p.Gln1191Pro)
c.3704A>C (p.Gln1235Pro)
n.194T>G
6g.33446741A>GCA363637799SYNGAP1,SYNGAP1-AS1c.3491A>G (p.Gln1164Arg)
c.3749A>G (p.Gln1250Arg)
c.3701A>G (p.Gln1234Arg)
n.31A>G
c.3572A>G (p.Gln1191Arg)
c.3704A>G (p.Gln1235Arg)
n.194T>C
6g.33446741A>TCA363637802SYNGAP1,SYNGAP1-AS1c.3491A>T (p.Gln1164Leu)
c.3749A>T (p.Gln1250Leu)
c.3701A>T (p.Gln1234Leu)
n.31A>T
c.3572A>T (p.Gln1191Leu)
c.3704A>T (p.Gln1235Leu)
n.194T>A
6g.33446742G>ACA449839714SYNGAP1,SYNGAP1-AS1c.3492G>A (p.Gln1164=)
c.3750G>A (p.Gln1250=)
c.3702G>A (p.Gln1234=)
n.32G>A
c.3573G>A (p.Gln1191=)
c.3705G>A (p.Gln1235=)
n.193C>T
6g.33446742G>CCA363637811SYNGAP1,SYNGAP1-AS1c.3492G>C (p.Gln1164His)
c.3750G>C (p.Gln1250His)
c.3702G>C (p.Gln1234His)
n.32G>C
c.3573G>C (p.Gln1191His)
c.3705G>C (p.Gln1235His)
n.193C>G
 dbSNP
6g.33446742G=CA1620017019SYNGAP1,SYNGAP1-AS1c.3492G= (p.Gln1164=)
c.3750G= (p.Gln1250=)
c.3702G= (p.Gln1234=)
n.32G=
c.3573G= (p.Gln1191=)
c.3705G= (p.Gln1235=)
n.193C=
6g.33446742G>TCA363637815SYNGAP1,SYNGAP1-AS1c.3492G>T (p.Gln1164His)
c.3750G>T (p.Gln1250His)
c.3702G>T (p.Gln1234His)
n.32G>T
c.3573G>T (p.Gln1191His)
c.3705G>T (p.Gln1235His)
n.193C>A
6g.33446743C>ACA363637818SYNGAP1,SYNGAP1-AS1c.3493C>A (p.Gln1165Lys)
c.3751C>A (p.Gln1251Lys)
c.3703C>A (p.Gln1235Lys)
n.33C>A
c.3574C>A (p.Gln1192Lys)
c.3706C>A (p.Gln1236Lys)
n.192G>T
 gnomAD v4
6g.33446743C=CA1620017021SYNGAP1,SYNGAP1-AS1c.3493C= (p.Gln1165=)
c.3751C= (p.Gln1251=)
c.3703C= (p.Gln1235=)
n.33C=
c.3574C= (p.Gln1192=)
c.3706C= (p.Gln1236=)
n.192G=
6g.33446743C>GCA363637821SYNGAP1,SYNGAP1-AS1c.3493C>G (p.Gln1165Glu)
c.3751C>G (p.Gln1251Glu)
c.3703C>G (p.Gln1235Glu)
n.33C>G
c.3574C>G (p.Gln1192Glu)
c.3706C>G (p.Gln1236Glu)
n.192G>C
6g.33446743C>TCA363637823SYNGAP1,SYNGAP1-AS1c.3493C>T (p.Gln1165Ter)
c.3751C>T (p.Gln1251Ter)
c.3703C>T (p.Gln1235Ter)
n.33C>T
c.3574C>T (p.Gln1192Ter)
c.3706C>T (p.Gln1236Ter)
n.192G>A
 ClinVar dbSNP
6g.33446744A>CCA363637827SYNGAP1,SYNGAP1-AS1c.3494A>C (p.Gln1165Pro)
c.3752A>C (p.Gln1251Pro)
c.3704A>C (p.Gln1235Pro)
n.34A>C
c.3575A>C (p.Gln1192Pro)
c.3707A>C (p.Gln1236Pro)
n.191T>G
6g.33446744A>GCA363637831SYNGAP1,SYNGAP1-AS1c.3494A>G (p.Gln1165Arg)
c.3752A>G (p.Gln1251Arg)
c.3704A>G (p.Gln1235Arg)
n.34A>G
c.3575A>G (p.Gln1192Arg)
c.3707A>G (p.Gln1236Arg)
n.191T>C
6g.33446744A>TCA363637834SYNGAP1,SYNGAP1-AS1c.3494A>T (p.Gln1165Leu)
c.3752A>T (p.Gln1251Leu)
c.3704A>T (p.Gln1235Leu)
n.34A>T
c.3575A>T (p.Gln1192Leu)
c.3707A>T (p.Gln1236Leu)
n.191T>A
6g.33446745G>ACA449839716SYNGAP1,SYNGAP1-AS1c.3495G>A (p.Gln1165=)
c.3753G>A (p.Gln1251=)
c.3705G>A (p.Gln1235=)
n.35G>A
c.3576G>A (p.Gln1192=)
c.3708G>A (p.Gln1236=)
n.190C>T
6g.33446745G>CCA363637835SYNGAP1,SYNGAP1-AS1c.3495G>C (p.Gln1165His)
c.3753G>C (p.Gln1251His)
c.3705G>C (p.Gln1235His)
n.35G>C
c.3576G>C (p.Gln1192His)
c.3708G>C (p.Gln1236His)
n.190C>G
6g.33446745G>TCA363637838SYNGAP1,SYNGAP1-AS1c.3495G>T (p.Gln1165His)
c.3753G>T (p.Gln1251His)
c.3705G>T (p.Gln1235His)
n.35G>T
c.3576G>T (p.Gln1192His)
c.3708G>T (p.Gln1236His)
n.190C>A
6g.33446746C>ACA363637842SYNGAP1,SYNGAP1-AS1c.3496C>A (p.Gln1166Lys)
c.3754C>A (p.Gln1252Lys)
c.3706C>A (p.Gln1236Lys)
n.36C>A
c.3577C>A (p.Gln1193Lys)
c.3709C>A (p.Gln1237Lys)
n.189G>T
6g.33446746C=CA1620017025SYNGAP1,SYNGAP1-AS1c.3496C= (p.Gln1166=)
c.3754C= (p.Gln1252=)
c.3706C= (p.Gln1236=)
n.36C=
c.3577C= (p.Gln1193=)
c.3709C= (p.Gln1237=)
n.189G=
6g.33446746C>GCA363637847SYNGAP1,SYNGAP1-AS1c.3496C>G (p.Gln1166Glu)
c.3754C>G (p.Gln1252Glu)
c.3706C>G (p.Gln1236Glu)
n.36C>G
c.3577C>G (p.Gln1193Glu)
c.3709C>G (p.Gln1237Glu)
n.189G>C
6g.33446746C>TCA363637844SYNGAP1,SYNGAP1-AS1c.3496C>T (p.Gln1166Ter)
c.3754C>T (p.Gln1252Ter)
c.3706C>T (p.Gln1236Ter)
n.36C>T
c.3577C>T (p.Gln1193Ter)
c.3709C>T (p.Gln1237Ter)
n.189G>A
 ClinVar dbSNP
6g.33446747A>CCA363637850SYNGAP1,SYNGAP1-AS1c.3497A>C (p.Gln1166Pro)
c.3755A>C (p.Gln1252Pro)
c.3707A>C (p.Gln1236Pro)
n.37A>C
c.3578A>C (p.Gln1193Pro)
c.3710A>C (p.Gln1237Pro)
n.188T>G
6g.33446747A>GCA363637853SYNGAP1,SYNGAP1-AS1c.3497A>G (p.Gln1166Arg)
c.3755A>G (p.Gln1252Arg)
c.3707A>G (p.Gln1236Arg)
n.37A>G
c.3578A>G (p.Gln1193Arg)
c.3710A>G (p.Gln1237Arg)
n.188T>C
6g.33446747A>TCA363637856SYNGAP1,SYNGAP1-AS1c.3497A>T (p.Gln1166Leu)
c.3755A>T (p.Gln1252Leu)
c.3707A>T (p.Gln1236Leu)
n.37A>T
c.3578A>T (p.Gln1193Leu)
c.3710A>T (p.Gln1237Leu)
n.188T>A
6g.33446748G>ACA3759087SYNGAP1,SYNGAP1-AS1c.3498G>A (p.Gln1166=)
c.3756G>A (p.Gln1252=)
c.3708G>A (p.Gln1236=)
n.38G>A
c.3579G>A (p.Gln1193=)
c.3711G>A (p.Gln1237=)
n.187C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446748G>CCA363637859SYNGAP1,SYNGAP1-AS1c.3498G>C (p.Gln1166His)
c.3756G>C (p.Gln1252His)
c.3708G>C (p.Gln1236His)
n.38G>C
c.3579G>C (p.Gln1193His)
c.3711G>C (p.Gln1237His)
n.187C>G
6g.33446748G=CA1620017029SYNGAP1,SYNGAP1-AS1c.3498G= (p.Gln1166=)
c.3756G= (p.Gln1252=)
c.3708G= (p.Gln1236=)
n.38G=
c.3579G= (p.Gln1193=)
c.3711G= (p.Gln1237=)
n.187C=
6g.33446748G>TCA363637863SYNGAP1,SYNGAP1-AS1c.3498G>T (p.Gln1166His)
c.3756G>T (p.Gln1252His)
c.3708G>T (p.Gln1236His)
n.38G>T
c.3579G>T (p.Gln1193His)
c.3711G>T (p.Gln1237His)
n.187C>A
6g.33446749G>ACA363637868SYNGAP1,SYNGAP1-AS1c.3499G>A (p.Ala1167Thr)
c.3757G>A (p.Ala1253Thr)
c.3709G>A (p.Ala1237Thr)
n.39G>A
c.3580G>A (p.Ala1194Thr)
c.3712G>A (p.Ala1238Thr)
n.186C>T
6g.33446749G>CCA363637870SYNGAP1,SYNGAP1-AS1c.3499G>C (p.Ala1167Pro)
c.3757G>C (p.Ala1253Pro)
c.3709G>C (p.Ala1237Pro)
n.39G>C
c.3580G>C (p.Ala1194Pro)
c.3712G>C (p.Ala1238Pro)
n.186C>G
6g.33446749G>TCA363637877SYNGAP1,SYNGAP1-AS1c.3499G>T (p.Ala1167Ser)
c.3757G>T (p.Ala1253Ser)
c.3709G>T (p.Ala1237Ser)
n.39G>T
c.3580G>T (p.Ala1194Ser)
c.3712G>T (p.Ala1238Ser)
n.186C>A
6g.33446750C>ACA363637884SYNGAP1,SYNGAP1-AS1c.3500C>A (p.Ala1167Glu)
c.3758C>A (p.Ala1253Glu)
c.3710C>A (p.Ala1237Glu)
n.40C>A
c.3581C>A (p.Ala1194Glu)
c.3713C>A (p.Ala1238Glu)
n.185G>T
6g.33446750C>GCA363637881SYNGAP1,SYNGAP1-AS1c.3500C>G (p.Ala1167Gly)
c.3758C>G (p.Ala1253Gly)
c.3710C>G (p.Ala1237Gly)
n.40C>G
c.3581C>G (p.Ala1194Gly)
c.3713C>G (p.Ala1238Gly)
n.185G>C
6g.33446750C>TCA363637879SYNGAP1,SYNGAP1-AS1c.3500C>T (p.Ala1167Val)
c.3758C>T (p.Ala1253Val)
c.3710C>T (p.Ala1237Val)
n.40C>T
c.3581C>T (p.Ala1194Val)
c.3713C>T (p.Ala1238Val)
n.185G>A
6g.33446751A>CCA449839724SYNGAP1,SYNGAP1-AS1c.3501A>C (p.Ala1167=)
c.3759A>C (p.Ala1253=)
c.3711A>C (p.Ala1237=)
n.41A>C
c.3582A>C (p.Ala1194=)
c.3714A>C (p.Ala1238=)
n.184T>G
6g.33446751A>GCA449839723SYNGAP1,SYNGAP1-AS1c.3501A>G (p.Ala1167=)
c.3759A>G (p.Ala1253=)
c.3711A>G (p.Ala1237=)
n.41A>G
c.3582A>G (p.Ala1194=)
c.3714A>G (p.Ala1238=)
n.184T>C
6g.33446751A>TCA449839722SYNGAP1,SYNGAP1-AS1c.3501A>T (p.Ala1167=)
c.3759A>T (p.Ala1253=)
c.3711A>T (p.Ala1237=)
n.41A>T
c.3582A>T (p.Ala1194=)
c.3714A>T (p.Ala1238=)
n.184T>A
6g.33446752G>ACA363637886SYNGAP1,SYNGAP1-AS1c.3502G>A (p.Glu1168Lys)
c.3760G>A (p.Glu1254Lys)
c.3712G>A (p.Glu1238Lys)
n.42G>A
c.3583G>A (p.Glu1195Lys)
c.3715G>A (p.Glu1239Lys)
n.183C>T
6g.33446752G>CCA363637888SYNGAP1,SYNGAP1-AS1c.3502G>C (p.Glu1168Gln)
c.3760G>C (p.Glu1254Gln)
c.3712G>C (p.Glu1238Gln)
n.42G>C
c.3583G>C (p.Glu1195Gln)
c.3715G>C (p.Glu1239Gln)
n.183C>G
 COSMIC COSMIC
6g.33446752G=CA1620017032SYNGAP1,SYNGAP1-AS1c.3502G= (p.Glu1168=)
c.3760G= (p.Glu1254=)
c.3712G= (p.Glu1238=)
n.42G=
c.3583G= (p.Glu1195=)
c.3715G= (p.Glu1239=)
n.183C=
6g.33446752G>TCA363637890SYNGAP1,SYNGAP1-AS1c.3502G>T (p.Glu1168Ter)
c.3760G>T (p.Glu1254Ter)
c.3712G>T (p.Glu1238Ter)
n.42G>T
c.3583G>T (p.Glu1195Ter)
c.3715G>T (p.Glu1239Ter)
n.183C>A
 dbSNP
6g.33446753A>CCA363637891SYNGAP1,SYNGAP1-AS1c.3503A>C (p.Glu1168Ala)
c.3761A>C (p.Glu1254Ala)
c.3713A>C (p.Glu1238Ala)
n.43A>C
c.3584A>C (p.Glu1195Ala)
c.3716A>C (p.Glu1239Ala)
n.182T>G
6g.33446753A>GCA363637892SYNGAP1,SYNGAP1-AS1c.3503A>G (p.Glu1168Gly)
c.3761A>G (p.Glu1254Gly)
c.3713A>G (p.Glu1238Gly)
n.43A>G
c.3584A>G (p.Glu1195Gly)
c.3716A>G (p.Glu1239Gly)
n.182T>C
6g.33446753A>TCA363637896SYNGAP1,SYNGAP1-AS1c.3503A>T (p.Glu1168Val)
c.3761A>T (p.Glu1254Val)
c.3713A>T (p.Glu1238Val)
n.43A>T
c.3584A>T (p.Glu1195Val)
c.3716A>T (p.Glu1239Val)
n.182T>A
6g.33446755_33446757delCA645559131SYNGAP1,SYNGAP1-AS1c.3505_3507del (p.Lys1169del)
c.3763_3765del (p.Lys1255del)
c.3715_3717del (p.Lys1239del)
n.45_47del
c.3586_3588del (p.Lys1196del)
c.3718_3720del (p.Lys1240del)
n.180_182del
 COSMIC COSMIC
6g.33446754G>ACA449839728SYNGAP1,SYNGAP1-AS1c.3504G>A (p.Glu1168=)
c.3762G>A (p.Glu1254=)
c.3714G>A (p.Glu1238=)
n.44G>A
c.3585G>A (p.Glu1195=)
c.3717G>A (p.Glu1239=)
n.181C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446754G>CCA363637898SYNGAP1,SYNGAP1-AS1c.3504G>C (p.Glu1168Asp)
c.3762G>C (p.Glu1254Asp)
c.3714G>C (p.Glu1238Asp)
n.44G>C
c.3585G>C (p.Glu1195Asp)
c.3717G>C (p.Glu1239Asp)
n.181C>G
6g.33446754G=CA1620017044SYNGAP1,SYNGAP1-AS1c.3504G= (p.Glu1168=)
c.3762G= (p.Glu1254=)
c.3714G= (p.Glu1238=)
n.44G=
c.3585G= (p.Glu1195=)
c.3717G= (p.Glu1239=)
n.181C=
6g.33446754G>TCA363637901SYNGAP1,SYNGAP1-AS1c.3504G>T (p.Glu1168Asp)
c.3762G>T (p.Glu1254Asp)
c.3714G>T (p.Glu1238Asp)
n.44G>T
c.3585G>T (p.Glu1195Asp)
c.3717G>T (p.Glu1239Asp)
n.181C>A
6g.33446755A>CCA363637905SYNGAP1,SYNGAP1-AS1c.3505A>C (p.Lys1169Gln)
c.3763A>C (p.Lys1255Gln)
c.3715A>C (p.Lys1239Gln)
n.45A>C
c.3586A>C (p.Lys1196Gln)
c.3718A>C (p.Lys1240Gln)
n.180T>G
6g.33446755A>GCA363637907SYNGAP1,SYNGAP1-AS1c.3505A>G (p.Lys1169Glu)
c.3763A>G (p.Lys1255Glu)
c.3715A>G (p.Lys1239Glu)
n.45A>G
c.3586A>G (p.Lys1196Glu)
c.3718A>G (p.Lys1240Glu)
n.180T>C
6g.33446755A>TCA363637909SYNGAP1,SYNGAP1-AS1c.3505A>T (p.Lys1169Ter)
c.3763A>T (p.Lys1255Ter)
c.3715A>T (p.Lys1239Ter)
n.45A>T
c.3586A>T (p.Lys1196Ter)
c.3718A>T (p.Lys1240Ter)
n.180T>A
6g.33446756A>CCA363637911SYNGAP1,SYNGAP1-AS1c.3506A>C (p.Lys1169Thr)
c.3764A>C (p.Lys1255Thr)
c.3716A>C (p.Lys1239Thr)
n.46A>C
c.3587A>C (p.Lys1196Thr)
c.3719A>C (p.Lys1240Thr)
n.179T>G
6g.33446756A>GCA363637916SYNGAP1,SYNGAP1-AS1c.3506A>G (p.Lys1169Arg)
c.3764A>G (p.Lys1255Arg)
c.3716A>G (p.Lys1239Arg)
n.46A>G
c.3587A>G (p.Lys1196Arg)
c.3719A>G (p.Lys1240Arg)
n.179T>C
6g.33446756A>TCA363637918SYNGAP1,SYNGAP1-AS1c.3506A>T (p.Lys1169Met)
c.3764A>T (p.Lys1255Met)
c.3716A>T (p.Lys1239Met)
n.46A>T
c.3587A>T (p.Lys1196Met)
c.3719A>T (p.Lys1240Met)
n.179T>A
6g.33446757G>ACA449839732SYNGAP1,SYNGAP1-AS1c.3507G>A (p.Lys1169=)
c.3765G>A (p.Lys1255=)
c.3717G>A (p.Lys1239=)
n.47G>A
c.3588G>A (p.Lys1196=)
c.3720G>A (p.Lys1240=)
n.178C>T
6g.33446757G>CCA363637926SYNGAP1,SYNGAP1-AS1c.3507G>C (p.Lys1169Asn)
c.3765G>C (p.Lys1255Asn)
c.3717G>C (p.Lys1239Asn)
n.47G>C
c.3588G>C (p.Lys1196Asn)
c.3720G>C (p.Lys1240Asn)
n.178C>G
6g.33446757G>TCA363637930SYNGAP1,SYNGAP1-AS1c.3507G>T (p.Lys1169Asn)
c.3765G>T (p.Lys1255Asn)
c.3717G>T (p.Lys1239Asn)
n.47G>T
c.3588G>T (p.Lys1196Asn)
c.3720G>T (p.Lys1240Asn)
n.178C>A
6g.33446758G>ACA363637932SYNGAP1,SYNGAP1-AS1c.3508G>A (p.Asp1170Asn)
c.3766G>A (p.Asp1256Asn)
c.3718G>A (p.Asp1240Asn)
n.48G>A
c.3589G>A (p.Asp1197Asn)
c.3721G>A (p.Asp1241Asn)
n.177C>T
6g.33446758G>CCA363637935SYNGAP1,SYNGAP1-AS1c.3508G>C (p.Asp1170His)
c.3766G>C (p.Asp1256His)
c.3718G>C (p.Asp1240His)
n.48G>C
c.3589G>C (p.Asp1197His)
c.3721G>C (p.Asp1241His)
n.177C>G
6g.33446758G>TCA363637937SYNGAP1,SYNGAP1-AS1c.3508G>T (p.Asp1170Tyr)
c.3766G>T (p.Asp1256Tyr)
c.3718G>T (p.Asp1240Tyr)
n.48G>T
c.3589G>T (p.Asp1197Tyr)
c.3721G>T (p.Asp1241Tyr)
n.177C>A
6g.33446759A>CCA363637939SYNGAP1,SYNGAP1-AS1c.3509A>C (p.Asp1170Ala)
c.3767A>C (p.Asp1256Ala)
c.3719A>C (p.Asp1240Ala)
n.49A>C
c.3590A>C (p.Asp1197Ala)
c.3722A>C (p.Asp1241Ala)
n.176T>G
6g.33446759A>GCA363637940SYNGAP1,SYNGAP1-AS1c.3509A>G (p.Asp1170Gly)
c.3767A>G (p.Asp1256Gly)
c.3719A>G (p.Asp1240Gly)
n.49A>G
c.3590A>G (p.Asp1197Gly)
c.3722A>G (p.Asp1241Gly)
n.176T>C
6g.33446759A>TCA363637942SYNGAP1,SYNGAP1-AS1c.3509A>T (p.Asp1170Val)
c.3767A>T (p.Asp1256Val)
c.3719A>T (p.Asp1240Val)
n.49A>T
c.3590A>T (p.Asp1197Val)
c.3722A>T (p.Asp1241Val)
n.176T>A
6g.33446760T>ACA363637943SYNGAP1,SYNGAP1-AS1c.3510T>A (p.Asp1170Glu)
c.3768T>A (p.Asp1256Glu)
c.3720T>A (p.Asp1240Glu)
n.50T>A
c.3591T>A (p.Asp1197Glu)
c.3723T>A (p.Asp1241Glu)
n.175A>T
6g.33446760T>CCA449839734SYNGAP1,SYNGAP1-AS1c.3510T>C (p.Asp1170=)
c.3768T>C (p.Asp1256=)
c.3720T>C (p.Asp1240=)
n.50T>C
c.3591T>C (p.Asp1197=)
c.3723T>C (p.Asp1241=)
n.175A>G
 gnomAD v4
6g.33446760T>GCA363637945SYNGAP1,SYNGAP1-AS1c.3510T>G (p.Asp1170Glu)
c.3768T>G (p.Asp1256Glu)
c.3720T>G (p.Asp1240Glu)
n.50T>G
c.3591T>G (p.Asp1197Glu)
c.3723T>G (p.Asp1241Glu)
n.175A>C
6g.33446761T>ACA363637947SYNGAP1,SYNGAP1-AS1c.3511T>A (p.Ser1171Thr)
c.3769T>A (p.Ser1257Thr)
c.3721T>A (p.Ser1241Thr)
n.51T>A
c.3592T>A (p.Ser1198Thr)
c.3724T>A (p.Ser1242Thr)
n.174A>T
6g.33446761T>CCA363637949SYNGAP1,SYNGAP1-AS1c.3511T>C (p.Ser1171Pro)
c.3769T>C (p.Ser1257Pro)
c.3721T>C (p.Ser1241Pro)
n.51T>C
c.3592T>C (p.Ser1198Pro)
c.3724T>C (p.Ser1242Pro)
n.174A>G
6g.33446761T>GCA363637952SYNGAP1,SYNGAP1-AS1c.3511T>G (p.Ser1171Ala)
c.3769T>G (p.Ser1257Ala)
c.3721T>G (p.Ser1241Ala)
n.51T>G
c.3592T>G (p.Ser1198Ala)
c.3724T>G (p.Ser1242Ala)
n.174A>C
6g.33446762C>ACA363637960SYNGAP1,SYNGAP1-AS1c.3512C>A (p.Ser1171Tyr)
c.3770C>A (p.Ser1257Tyr)
c.3722C>A (p.Ser1241Tyr)
n.52C>A
c.3593C>A (p.Ser1198Tyr)
c.3725C>A (p.Ser1242Tyr)
n.173G>T
6g.33446762C>GCA363637958SYNGAP1,SYNGAP1-AS1c.3512C>G (p.Ser1171Cys)
c.3770C>G (p.Ser1257Cys)
c.3722C>G (p.Ser1241Cys)
n.52C>G
c.3593C>G (p.Ser1198Cys)
c.3725C>G (p.Ser1242Cys)
n.173G>C
6g.33446762C>TCA363637955SYNGAP1,SYNGAP1-AS1c.3512C>T (p.Ser1171Phe)
c.3770C>T (p.Ser1257Phe)
c.3722C>T (p.Ser1241Phe)
n.52C>T
c.3593C>T (p.Ser1198Phe)
c.3725C>T (p.Ser1242Phe)
n.173G>A
6g.33446763C>ACA449839748SYNGAP1,SYNGAP1-AS1c.3513C>A (p.Ser1171=)
c.3771C>A (p.Ser1257=)
c.3723C>A (p.Ser1241=)
n.53C>A
c.3594C>A (p.Ser1198=)
c.3726C>A (p.Ser1242=)
n.172G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33446763C=CA1620017048SYNGAP1,SYNGAP1-AS1c.3513C= (p.Ser1171=)
c.3771C= (p.Ser1257=)
c.3723C= (p.Ser1241=)
n.53C=
c.3594C= (p.Ser1198=)
c.3726C= (p.Ser1242=)
n.172G=
6g.33446763C>GCA449839753SYNGAP1,SYNGAP1-AS1c.3513C>G (p.Ser1171=)
c.3771C>G (p.Ser1257=)
c.3723C>G (p.Ser1241=)
n.53C>G
c.3594C>G (p.Ser1198=)
c.3726C>G (p.Ser1242=)
n.172G>C
6g.33446763C>TCA449839751SYNGAP1,SYNGAP1-AS1c.3513C>T (p.Ser1171=)
c.3771C>T (p.Ser1257=)
c.3723C>T (p.Ser1241=)
n.53C>T
c.3594C>T (p.Ser1198=)
c.3726C>T (p.Ser1242=)
n.172G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446764C>ACA363637963SYNGAP1,SYNGAP1-AS1c.3514C>A (p.Gln1172Lys)
c.3772C>A (p.Gln1258Lys)
c.3724C>A (p.Gln1242Lys)
n.54C>A
c.3595C>A (p.Gln1199Lys)
c.3727C>A (p.Gln1243Lys)
n.171G>T
6g.33446764C=CA1620017051SYNGAP1,SYNGAP1-AS1c.3514C= (p.Gln1172=)
c.3772C= (p.Gln1258=)
c.3724C= (p.Gln1242=)
n.54C=
c.3595C= (p.Gln1199=)
c.3727C= (p.Gln1243=)
n.171G=
6g.33446764C>GCA363637966SYNGAP1,SYNGAP1-AS1c.3514C>G (p.Gln1172Glu)
c.3772C>G (p.Gln1258Glu)
c.3724C>G (p.Gln1242Glu)
n.54C>G
c.3595C>G (p.Gln1199Glu)
c.3727C>G (p.Gln1243Glu)
n.171G>C
6g.33446764C>TCA363637968SYNGAP1,SYNGAP1-AS1c.3514C>T (p.Gln1172Ter)
c.3772C>T (p.Gln1258Ter)
c.3724C>T (p.Gln1242Ter)
n.54C>T
c.3595C>T (p.Gln1199Ter)
c.3727C>T (p.Gln1243Ter)
n.171G>A
 dbSNP
6g.33446765A>CCA363637972SYNGAP1,SYNGAP1-AS1c.3515A>C (p.Gln1172Pro)
c.3773A>C (p.Gln1258Pro)
c.3725A>C (p.Gln1242Pro)
n.55A>C
c.3596A>C (p.Gln1199Pro)
c.3728A>C (p.Gln1243Pro)
n.170T>G
6g.33446765A>GCA363637973SYNGAP1,SYNGAP1-AS1c.3515A>G (p.Gln1172Arg)
c.3773A>G (p.Gln1258Arg)
c.3725A>G (p.Gln1242Arg)
n.55A>G
c.3596A>G (p.Gln1199Arg)
c.3728A>G (p.Gln1243Arg)
n.170T>C
6g.33446765A>TCA363637974SYNGAP1,SYNGAP1-AS1c.3515A>T (p.Gln1172Leu)
c.3773A>T (p.Gln1258Leu)
c.3725A>T (p.Gln1242Leu)
n.55A>T
c.3596A>T (p.Gln1199Leu)
c.3728A>T (p.Gln1243Leu)
n.170T>A
6g.33446766G>ACA449839757SYNGAP1,SYNGAP1-AS1c.3516G>A (p.Gln1172=)
c.3774G>A (p.Gln1258=)
c.3726G>A (p.Gln1242=)
n.56G>A
c.3597G>A (p.Gln1199=)
c.3729G>A (p.Gln1243=)
n.169C>T
6g.33446766G>CCA363637975SYNGAP1,SYNGAP1-AS1c.3516G>C (p.Gln1172His)
c.3774G>C (p.Gln1258His)
c.3726G>C (p.Gln1242His)
n.56G>C
c.3597G>C (p.Gln1199His)
c.3729G>C (p.Gln1243His)
n.169C>G
6g.33446766G>TCA363637976SYNGAP1,SYNGAP1-AS1c.3516G>T (p.Gln1172His)
c.3774G>T (p.Gln1258His)
c.3726G>T (p.Gln1242His)
n.56G>T
c.3597G>T (p.Gln1199His)
c.3729G>T (p.Gln1243His)
n.169C>A
6g.33446767A>CCA363637979SYNGAP1,SYNGAP1-AS1c.3517A>C (p.Ile1173Leu)
c.3775A>C (p.Ile1259Leu)
c.3727A>C (p.Ile1243Leu)
n.57A>C
c.3598A>C (p.Ile1200Leu)
c.3730A>C (p.Ile1244Leu)
n.168T>G
6g.33446767A>GCA363637984SYNGAP1,SYNGAP1-AS1c.3517A>G (p.Ile1173Val)
c.3775A>G (p.Ile1259Val)
c.3727A>G (p.Ile1243Val)
n.57A>G
c.3598A>G (p.Ile1200Val)
c.3730A>G (p.Ile1244Val)
n.168T>C
6g.33446767A>TCA363637982SYNGAP1,SYNGAP1-AS1c.3517A>T (p.Ile1173Phe)
c.3775A>T (p.Ile1259Phe)
c.3727A>T (p.Ile1243Phe)
n.57A>T
c.3598A>T (p.Ile1200Phe)
c.3730A>T (p.Ile1244Phe)
n.168T>A
6g.33446768T>ACA363637987SYNGAP1,SYNGAP1-AS1c.3518T>A (p.Ile1173Asn)
c.3776T>A (p.Ile1259Asn)
c.3728T>A (p.Ile1243Asn)
n.58T>A
c.3599T>A (p.Ile1200Asn)
c.3731T>A (p.Ile1244Asn)
n.167A>T
6g.33446768T>CCA363637990SYNGAP1,SYNGAP1-AS1c.3518T>C (p.Ile1173Thr)
c.3776T>C (p.Ile1259Thr)
c.3728T>C (p.Ile1243Thr)
n.58T>C
c.3599T>C (p.Ile1200Thr)
c.3731T>C (p.Ile1244Thr)
n.167A>G
6g.33446768T>GCA363637995SYNGAP1,SYNGAP1-AS1c.3518T>G (p.Ile1173Ser)
c.3776T>G (p.Ile1259Ser)
c.3728T>G (p.Ile1243Ser)
n.58T>G
c.3599T>G (p.Ile1200Ser)
c.3731T>G (p.Ile1244Ser)
n.167A>C
6g.33446769C>ACA449839777SYNGAP1,SYNGAP1-AS1c.3519C>A (p.Ile1173=)
c.3777C>A (p.Ile1259=)
c.3729C>A (p.Ile1243=)
n.59C>A
c.3600C>A (p.Ile1200=)
c.3732C>A (p.Ile1244=)
n.166G>T
6g.33446769C>GCA363638000SYNGAP1,SYNGAP1-AS1c.3519C>G (p.Ile1173Met)
c.3777C>G (p.Ile1259Met)
c.3729C>G (p.Ile1243Met)
n.59C>G
c.3600C>G (p.Ile1200Met)
c.3732C>G (p.Ile1244Met)
n.166G>C
 gnomAD v4
6g.33446769C>TCA449839779SYNGAP1,SYNGAP1-AS1c.3519C>T (p.Ile1173=)
c.3777C>T (p.Ile1259=)
c.3729C>T (p.Ile1243=)
n.59C>T
c.3600C>T (p.Ile1200=)
c.3732C>T (p.Ile1244=)
n.166G>A
6g.33446770A>CCA363638002SYNGAP1,SYNGAP1-AS1c.3520A>C (p.Lys1174Gln)
c.3778A>C (p.Lys1260Gln)
c.3730A>C (p.Lys1244Gln)
n.60A>C
c.3601A>C (p.Lys1201Gln)
c.3733A>C (p.Lys1245Gln)
n.165T>G
 gnomAD v4
6g.33446770A>GCA363638004SYNGAP1,SYNGAP1-AS1c.3520A>G (p.Lys1174Glu)
c.3778A>G (p.Lys1260Glu)
c.3730A>G (p.Lys1244Glu)
n.60A>G
c.3601A>G (p.Lys1201Glu)
c.3733A>G (p.Lys1245Glu)
n.165T>C
6g.33446770A>TCA363638003SYNGAP1,SYNGAP1-AS1c.3520A>T (p.Lys1174Ter)
c.3778A>T (p.Lys1260Ter)
c.3730A>T (p.Lys1244Ter)
n.60A>T
c.3601A>T (p.Lys1201Ter)
c.3733A>T (p.Lys1245Ter)
n.165T>A
6g.33446771A>CCA363638005SYNGAP1,SYNGAP1-AS1c.3521A>C (p.Lys1174Thr)
c.3779A>C (p.Lys1260Thr)
c.3731A>C (p.Lys1244Thr)
n.61A>C
c.3602A>C (p.Lys1201Thr)
c.3734A>C (p.Lys1245Thr)
n.164T>G
6g.33446771A>GCA363638006SYNGAP1,SYNGAP1-AS1c.3521A>G (p.Lys1174Arg)
c.3779A>G (p.Lys1260Arg)
c.3731A>G (p.Lys1244Arg)
n.61A>G
c.3602A>G (p.Lys1201Arg)
c.3734A>G (p.Lys1245Arg)
n.164T>C
 gnomAD v4
6g.33446771A>TCA363638008SYNGAP1,SYNGAP1-AS1c.3521A>T (p.Lys1174Met)
c.3779A>T (p.Lys1260Met)
c.3731A>T (p.Lys1244Met)
n.61A>T
c.3602A>T (p.Lys1201Met)
c.3734A>T (p.Lys1245Met)
n.164T>A
6g.33446772G>ACA137075377SYNGAP1,SYNGAP1-AS1c.3522G>A (p.Lys1174=)
c.3780G>A (p.Lys1260=)
c.3732G>A (p.Lys1244=)
n.62G>A
c.3603G>A (p.Lys1201=)
c.3735G>A (p.Lys1245=)
n.163C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446772G>CCA363638011SYNGAP1,SYNGAP1-AS1c.3522G>C (p.Lys1174Asn)
c.3780G>C (p.Lys1260Asn)
c.3732G>C (p.Lys1244Asn)
n.62G>C
c.3603G>C (p.Lys1201Asn)
c.3735G>C (p.Lys1245Asn)
n.163C>G
6g.33446772G=CA1620017054SYNGAP1,SYNGAP1-AS1c.3522G= (p.Lys1174=)
c.3780G= (p.Lys1260=)
c.3732G= (p.Lys1244=)
n.62G=
c.3603G= (p.Lys1201=)
c.3735G= (p.Lys1245=)
n.163C=
6g.33446772G>TCA363638012SYNGAP1,SYNGAP1-AS1c.3522G>T (p.Lys1174Asn)
c.3780G>T (p.Lys1260Asn)
c.3732G>T (p.Lys1244Asn)
n.62G>T
c.3603G>T (p.Lys1201Asn)
c.3735G>T (p.Lys1245Asn)
n.163C>A
6g.33446773A>CCA363638016SYNGAP1,SYNGAP1-AS1c.3523A>C (p.Ser1175Arg)
c.3781A>C (p.Ser1261Arg)
c.3733A>C (p.Ser1245Arg)
n.63A>C
c.3604A>C (p.Ser1202Arg)
c.3736A>C (p.Ser1246Arg)
n.162T>G
6g.33446773A>GCA363638019SYNGAP1,SYNGAP1-AS1c.3523A>G (p.Ser1175Gly)
c.3781A>G (p.Ser1261Gly)
c.3733A>G (p.Ser1245Gly)
n.63A>G
c.3604A>G (p.Ser1202Gly)
c.3736A>G (p.Ser1246Gly)
n.162T>C
6g.33446773A>TCA363638023SYNGAP1,SYNGAP1-AS1c.3523A>T (p.Ser1175Cys)
c.3781A>T (p.Ser1261Cys)
c.3733A>T (p.Ser1245Cys)
n.63A>T
c.3604A>T (p.Ser1202Cys)
c.3736A>T (p.Ser1246Cys)
n.162T>A
6g.33446774G>ACA363638027SYNGAP1,SYNGAP1-AS1c.3524G>A (p.Ser1175Asn)
c.3782G>A (p.Ser1261Asn)
c.3734G>A (p.Ser1245Asn)
n.64G>A
c.3605G>A (p.Ser1202Asn)
c.3737G>A (p.Ser1246Asn)
n.161C>T
6g.33446774G>CCA363638030SYNGAP1,SYNGAP1-AS1c.3524G>C (p.Ser1175Thr)
c.3782G>C (p.Ser1261Thr)
c.3734G>C (p.Ser1245Thr)
n.64G>C
c.3605G>C (p.Ser1202Thr)
c.3737G>C (p.Ser1246Thr)
n.161C>G
6g.33446774G>TCA363638032SYNGAP1,SYNGAP1-AS1c.3524G>T (p.Ser1175Ile)
c.3782G>T (p.Ser1261Ile)
c.3734G>T (p.Ser1245Ile)
n.64G>T
c.3605G>T (p.Ser1202Ile)
c.3737G>T (p.Ser1246Ile)
n.161C>A
6g.33446775C>ACA363638033SYNGAP1,SYNGAP1-AS1c.3525C>A (p.Ser1175Arg)
c.3783C>A (p.Ser1261Arg)
c.3735C>A (p.Ser1245Arg)
n.65C>A
c.3606C>A (p.Ser1202Arg)
c.3738C>A (p.Ser1246Arg)
n.160G>T
6g.33446775C=CA1620017059SYNGAP1,SYNGAP1-AS1c.3525C= (p.Ser1175=)
c.3783C= (p.Ser1261=)
c.3735C= (p.Ser1245=)
n.65C=
c.3606C= (p.Ser1202=)
c.3738C= (p.Ser1246=)
n.160G=
6g.33446775C>GCA363638041SYNGAP1,SYNGAP1-AS1c.3525C>G (p.Ser1175Arg)
c.3783C>G (p.Ser1261Arg)
c.3735C>G (p.Ser1245Arg)
n.65C>G
c.3606C>G (p.Ser1202Arg)
c.3738C>G (p.Ser1246Arg)
n.160G>C
6g.33446775C>TCA3759088SYNGAP1,SYNGAP1-AS1c.3525C>T (p.Ser1175=)
c.3783C>T (p.Ser1261=)
c.3735C>T (p.Ser1245=)
n.65C>T
c.3606C>T (p.Ser1202=)
c.3738C>T (p.Ser1246=)
n.160G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446776A>CCA363638051SYNGAP1,SYNGAP1-AS1c.3526A>C (p.Ile1176Leu)
c.3784A>C (p.Ile1262Leu)
c.3736A>C (p.Ile1246Leu)
n.66A>C
c.3607A>C (p.Ile1203Leu)
c.3739A>C (p.Ile1247Leu)
n.159T>G
6g.33446776A>GCA363638055SYNGAP1,SYNGAP1-AS1c.3526A>G (p.Ile1176Val)
c.3784A>G (p.Ile1262Val)
c.3736A>G (p.Ile1246Val)
n.66A>G
c.3607A>G (p.Ile1203Val)
c.3739A>G (p.Ile1247Val)
n.159T>C
6g.33446776A>TCA363638056SYNGAP1,SYNGAP1-AS1c.3526A>T (p.Ile1176Phe)
c.3784A>T (p.Ile1262Phe)
c.3736A>T (p.Ile1246Phe)
n.66A>T
c.3607A>T (p.Ile1203Phe)
c.3739A>T (p.Ile1247Phe)
n.159T>A
6g.33446777T>ACA363638059SYNGAP1,SYNGAP1-AS1c.3527T>A (p.Ile1176Asn)
c.3785T>A (p.Ile1262Asn)
c.3737T>A (p.Ile1246Asn)
n.67T>A
c.3608T>A (p.Ile1203Asn)
c.3740T>A (p.Ile1247Asn)
n.158A>T
6g.33446777T>CCA363638061SYNGAP1,SYNGAP1-AS1c.3527T>C (p.Ile1176Thr)
c.3785T>C (p.Ile1262Thr)
c.3737T>C (p.Ile1246Thr)
n.67T>C
c.3608T>C (p.Ile1203Thr)
c.3740T>C (p.Ile1247Thr)
n.158A>G
6g.33446777T>GCA363638063SYNGAP1,SYNGAP1-AS1c.3527T>G (p.Ile1176Ser)
c.3785T>G (p.Ile1262Ser)
c.3737T>G (p.Ile1246Ser)
n.67T>G
c.3608T>G (p.Ile1203Ser)
c.3740T>G (p.Ile1247Ser)
n.158A>C
6g.33446778C>ACA449839834SYNGAP1,SYNGAP1-AS1c.3528C>A (p.Ile1176=)
c.3786C>A (p.Ile1262=)
c.3738C>A (p.Ile1246=)
n.68C>A
c.3609C>A (p.Ile1203=)
c.3741C>A (p.Ile1247=)
n.157G>T
6g.33446778C>GCA363638064SYNGAP1,SYNGAP1-AS1c.3528C>G (p.Ile1176Met)
c.3786C>G (p.Ile1262Met)
c.3738C>G (p.Ile1246Met)
n.68C>G
c.3609C>G (p.Ile1203Met)
c.3741C>G (p.Ile1247Met)
n.157G>C
6g.33446778C>TCA449839832SYNGAP1,SYNGAP1-AS1c.3528C>T (p.Ile1176=)
c.3786C>T (p.Ile1262=)
c.3738C>T (p.Ile1246=)
n.68C>T
c.3609C>T (p.Ile1203=)
c.3741C>T (p.Ile1247=)
n.157G>A
6g.33446779A>CCA363638067SYNGAP1,SYNGAP1-AS1c.3529A>C (p.Ile1177Leu)
c.3787A>C (p.Ile1263Leu)
c.3739A>C (p.Ile1247Leu)
n.69A>C
c.3610A>C (p.Ile1204Leu)
c.3742A>C (p.Ile1248Leu)
n.156T>G
6g.33446779A>GCA363638069SYNGAP1,SYNGAP1-AS1c.3529A>G (p.Ile1177Val)
c.3787A>G (p.Ile1263Val)
c.3739A>G (p.Ile1247Val)
n.69A>G
c.3610A>G (p.Ile1204Val)
c.3742A>G (p.Ile1248Val)
n.156T>C
6g.33446779A>TCA363638072SYNGAP1,SYNGAP1-AS1c.3529A>T (p.Ile1177Phe)
c.3787A>T (p.Ile1263Phe)
c.3739A>T (p.Ile1247Phe)
n.69A>T
c.3610A>T (p.Ile1204Phe)
c.3742A>T (p.Ile1248Phe)
n.156T>A
6g.33446779_33446786delinsATTGGCAGCA1620017062SYNGAP1,SYNGAP1-AS1c.3529_3536delinsATTGGCAG (p.Ile1177=)
c.3787_3794delinsATTGGCAG (p.Ile1263=)
c.3739_3746delinsATTGGCAG (p.Ile1247=)
n.69_76delinsATTGGCAG
c.3610_3617delinsATTGGCAG (p.Ile1204=)
c.3742_3749delinsATTGGCAG (p.Ile1248=)
n.149_156delinsCTGCCAAT
6g.33446780T>ACA363638087SYNGAP1,SYNGAP1-AS1c.3530T>A (p.Ile1177Asn)
c.3788T>A (p.Ile1263Asn)
c.3740T>A (p.Ile1247Asn)
n.70T>A
c.3611T>A (p.Ile1204Asn)
c.3743T>A (p.Ile1248Asn)
n.155A>T
6g.33446780T>CCA363638084SYNGAP1,SYNGAP1-AS1c.3530T>C (p.Ile1177Thr)
c.3788T>C (p.Ile1263Thr)
c.3740T>C (p.Ile1247Thr)
n.70T>C
c.3611T>C (p.Ile1204Thr)
c.3743T>C (p.Ile1248Thr)
n.155A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33446780T>GCA363638080SYNGAP1,SYNGAP1-AS1c.3530T>G (p.Ile1177Ser)
c.3788T>G (p.Ile1263Ser)
c.3740T>G (p.Ile1247Ser)
n.70T>G
c.3611T>G (p.Ile1204Ser)
c.3743T>G (p.Ile1248Ser)
n.155A>C
6g.33446780T=CA1620017068SYNGAP1,SYNGAP1-AS1c.3530T= (p.Ile1177=)
c.3788T= (p.Ile1263=)
c.3740T= (p.Ile1247=)
n.70T=
c.3611T= (p.Ile1204=)
c.3743T= (p.Ile1248=)
n.155A=
6g.33446780_33446786delCA354203SYNGAP1,SYNGAP1-AS1c.3530_3536del (p.Ile1177SerfsTer2)
c.3788_3794del (p.Ile1263ThrfsTer?)
c.3740_3746del (p.Ile1247SerfsTer2)
c.3788_3794del (p.Ile1263SerfsTer2)
n.70_76del
c.3611_3617del (p.Ile1204SerfsTer2)
c.3743_3749del (p.Ile1248SerfsTer2)
n.149_155del
 ClinVar dbSNP
6g.33446781T>ACA449839843SYNGAP1,SYNGAP1-AS1c.3531T>A (p.Ile1177=)
c.3789T>A (p.Ile1263=)
c.3741T>A (p.Ile1247=)
n.71T>A
c.3612T>A (p.Ile1204=)
c.3744T>A (p.Ile1248=)
n.154A>T
6g.33446781T>CCA449839846SYNGAP1,SYNGAP1-AS1c.3531T>C (p.Ile1177=)
c.3789T>C (p.Ile1263=)
c.3741T>C (p.Ile1247=)
n.71T>C
c.3612T>C (p.Ile1204=)
c.3744T>C (p.Ile1248=)
n.154A>G
6g.33446781T>GCA363638091SYNGAP1,SYNGAP1-AS1c.3531T>G (p.Ile1177Met)
c.3789T>G (p.Ile1263Met)
c.3741T>G (p.Ile1247Met)
n.71T>G
c.3612T>G (p.Ile1204Met)
c.3744T>G (p.Ile1248Met)
n.154A>C
6g.33446782G>ACA363638094SYNGAP1,SYNGAP1-AS1c.3532G>A (p.Gly1178Ser)
c.3790G>A (p.Gly1264Ser)
c.3742G>A (p.Gly1248Ser)
n.72G>A
c.3613G>A (p.Gly1205Ser)
c.3745G>A (p.Gly1249Ser)
n.153C>T
6g.33446782G>CCA363638096SYNGAP1,SYNGAP1-AS1c.3532G>C (p.Gly1178Arg)
c.3790G>C (p.Gly1264Arg)
c.3742G>C (p.Gly1248Arg)
n.72G>C
c.3613G>C (p.Gly1205Arg)
c.3745G>C (p.Gly1249Arg)
n.153C>G
6g.33446782G>TCA363638100SYNGAP1,SYNGAP1-AS1c.3532G>T (p.Gly1178Cys)
c.3790G>T (p.Gly1264Cys)
c.3742G>T (p.Gly1248Cys)
n.72G>T
c.3613G>T (p.Gly1205Cys)
c.3745G>T (p.Gly1249Cys)
n.153C>A
6g.33446783G>ACA363638104SYNGAP1,SYNGAP1-AS1c.3533G>A (p.Gly1178Asp)
c.3791G>A (p.Gly1264Asp)
c.3743G>A (p.Gly1248Asp)
n.73G>A
c.3614G>A (p.Gly1205Asp)
c.3746G>A (p.Gly1249Asp)
n.152C>T
6g.33446783G>CCA363638108SYNGAP1,SYNGAP1-AS1c.3533G>C (p.Gly1178Ala)
c.3791G>C (p.Gly1264Ala)
c.3743G>C (p.Gly1248Ala)
n.73G>C
c.3614G>C (p.Gly1205Ala)
c.3746G>C (p.Gly1249Ala)
n.152C>G
6g.33446783G>TCA363638109SYNGAP1,SYNGAP1-AS1c.3533G>T (p.Gly1178Val)
c.3791G>T (p.Gly1264Val)
c.3743G>T (p.Gly1248Val)
n.73G>T
c.3614G>T (p.Gly1205Val)
c.3746G>T (p.Gly1249Val)
n.152C>A
6g.33446784C>ACA449839852SYNGAP1,SYNGAP1-AS1c.3534C>A (p.Gly1178=)
c.3792C>A (p.Gly1264=)
c.3744C>A (p.Gly1248=)
n.74C>A
c.3615C>A (p.Gly1205=)
c.3747C>A (p.Gly1249=)
n.151G>T
6g.33446784C>GCA449839854SYNGAP1,SYNGAP1-AS1c.3534C>G (p.Gly1178=)
c.3792C>G (p.Gly1264=)
c.3744C>G (p.Gly1248=)
n.74C>G
c.3615C>G (p.Gly1205=)
c.3747C>G (p.Gly1249=)
n.151G>C
6g.33446784C>TCA449839858SYNGAP1,SYNGAP1-AS1c.3534C>T (p.Gly1178=)
c.3792C>T (p.Gly1264=)
c.3744C>T (p.Gly1248=)
n.74C>T
c.3615C>T (p.Gly1205=)
c.3747C>T (p.Gly1249=)
n.151G>A
6g.33446785A=CA1620017071SYNGAP1,SYNGAP1-AS1c.3535A= (p.Arg1179=)
c.3793A= (p.Ser1265=)
c.3745A= (p.Arg1249=)
c.3793A= (p.Arg1265=)
n.75A=
c.3616A= (p.Arg1206=)
c.3748A= (p.Arg1250=)
n.150T=
6g.33446785A>CCA3759089SYNGAP1,SYNGAP1-AS1c.3535A>C (p.Arg1179=)
c.3793A>C (p.Ser1265Arg)
c.3745A>C (p.Arg1249=)
c.3793A>C (p.Arg1265=)
n.75A>C
c.3616A>C (p.Arg1206=)
c.3748A>C (p.Arg1250=)
n.150T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446785A>GCA363638115SYNGAP1,SYNGAP1-AS1c.3535A>G (p.Arg1179Gly)
c.3793A>G (p.Ser1265Gly)
c.3745A>G (p.Arg1249Gly)
c.3793A>G (p.Arg1265Gly)
n.75A>G
c.3616A>G (p.Arg1206Gly)
c.3748A>G (p.Arg1250Gly)
n.150T>C
6g.33446785A>TCA363638117SYNGAP1,SYNGAP1-AS1c.3535A>T (p.Arg1179Trp)
c.3793A>T (p.Ser1265Cys)
c.3745A>T (p.Arg1249Trp)
c.3793A>T (p.Arg1265Trp)
n.75A>T
c.3616A>T (p.Arg1206Trp)
c.3748A>T (p.Arg1250Trp)
n.150T>A
6g.33446786G>ACA363638120SYNGAP1,SYNGAP1-AS1c.3536G>A (p.Arg1179Lys)
c.3794G>A (p.Ser1265Asn)
c.3746G>A (p.Arg1249Lys)
c.3794G>A (p.Arg1265Lys)
n.76G>A
c.3617G>A (p.Arg1206Lys)
c.3749G>A (p.Arg1250Lys)
n.149C>T
6g.33446786G>CCA363638123SYNGAP1,SYNGAP1-AS1c.3536G>C (p.Arg1179Thr)
c.3794G>C (p.Ser1265Thr)
c.3746G>C (p.Arg1249Thr)
c.3794G>C (p.Arg1265Thr)
n.76G>C
c.3617G>C (p.Arg1206Thr)
c.3749G>C (p.Arg1250Thr)
n.149C>G
 ClinVar dbSNP
6g.33446786G=CA1620017075SYNGAP1,SYNGAP1-AS1c.3536G= (p.Arg1179=)
c.3794G= (p.Ser1265=)
c.3746G= (p.Arg1249=)
c.3794G= (p.Arg1265=)
n.76G=
c.3617G= (p.Arg1206=)
c.3749G= (p.Arg1250=)
n.149C=
6g.33446786G>TCA363638125SYNGAP1,SYNGAP1-AS1c.3536G>T (p.Arg1179Met)
c.3794G>T (p.Ser1265Ile)
c.3746G>T (p.Arg1249Met)
c.3794G>T (p.Arg1265Met)
n.76G>T
c.3617G>T (p.Arg1206Met)
c.3749G>T (p.Arg1250Met)
n.149C>A

Number of alleles fetched